To see the other types of publications on this topic, follow the link: Cerebral ventricles/abnormalities.
Journal articles on the topic 'Cerebral ventricles/abnormalities'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Cerebral ventricles/abnormalities.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Mourot, A., T. d'Amato, T. Rochet, M. Marie-Cardine, C. Artéaga, JP Martin, and J. Dalery. "Cerebral investigation of healthy siblings of schizophrenics." European Psychiatry 12, no. 6 (1997): 273–78. http://dx.doi.org/10.1016/s0924-9338(97)84785-2.
Full textAbstract:
SummaryComputed tomography (CT) studies have demonstrated that lateral ventricular size measured by ventricular brain ratio (VBR), as well as third ventricle width, is statistically enlarged in schizophrenics. Moreover, these cerebral abnormalities differ according to symptomatology evaluated with a positive and negative symptom scale. The aim of this study was to investigate, using CT scans, healthy siblings of schizophrenics, and relate the results to their ill siblings. Nineteen healthy siblings of 12 previously studied schizophrenics underwent CT scans, which were compared to those of their related schizophrenic sibling and to 17 unrelated control subjects. The results showed that in ten of 12 families, schizophrenics have larger ventricles (lateral and third ventricles) than their healthy siblings. Ventricular enlargement of healthy siblings was correlated with severity of negative symptoms of their ill sibling. Implications of a familial contribution for ventricular size and negative symptoms are discussed.
2
Przyborowska, Paulina, Zbigniew Adamiak, and Yauheni Zhalniarovich. "Quantification of cerebral lateral ventricular volume in cats by low- and high-field MRI." Journal of Feline Medicine and Surgery 19, no. 10 (November 10, 2016): 1080–86. http://dx.doi.org/10.1177/1098612x16676434.
Full textAbstract:
Objectives The aim of this study was to evaluate variations in lateral ventricles in the examined feline population with the use of quantitative analysis methods to determine whether sex or body weight influenced the size of the ventricles, and to identify any significant differences in the results of low- and high-field MRI. Methods Twenty healthy European Shorthair cats, aged 1–3 years, with body weights ranging from 2.85–4.35 kg, were studied. MRI of brain structures was performed in a low- and a high-field MRI system. The height of the brain and lateral ventricles at the level of the interthalamic adhesion, and volume of the lateral ventricles were determined in T2-weighted images in the transverse plane. The degree of symmetry of lateral ventricles was analysed based on the ratio of right to left ventricular volume. The measured parameters were processed statistically to determine whether sex and body weight were significantly correlated with variations in ventricular anatomy. The results of low- and high-field MRI were analysed to evaluate for any significant differences. Results The average brain height was determined to be 27.79 mm, and the average height of the left and right ventricles were 2.98 mm and 2.89 mm, respectively. The average ventricle/brain height ratio was 10.61%. The average volume of the left ventricle was 134.12 mm3 and the right ventricle was 130.49 mm3. Moderately enlarged ventricles were observed in two cats. Moderate ventricular asymmetry was described in four cats. Sex and body weight had no significant effect on the evaluated parameters. The differences in the results of low- and high-field MRI were not statistically significant. Conclusions and relevance This study has determined reference intervals for ventricular volume in a population of European Shorthair cats without brain disease, which will facilitate the interpretation of MRI images and the characterisation of brain abnormalities in cats with neurological disease. Further research involving larger animal populations, including other breeds, is required to compare the measured parameters between breeds and to determine reference values for other breeds.
3
Rosa, Rafael Fabiano Machado, Carla Graziadio, Rene Lenhardt, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin, and Paulo Ricardo Gazzola Zen. "Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)." Arquivos de Neuro-Psiquiatria 68, no. 1 (February 2010): 98–102. http://dx.doi.org/10.1590/s0004-282x2010000100021.
Full textAbstract:
OBJECTIVE: To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. METHOD: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. RESULTS: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%). CONCLUSION: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms.
4
Pinto, Vincenzo, and Cristina A. Rossi. "Fetal Cerebral Ventriculomegaly: Sonographic Diagnostic Workup." Donald School Journal of Ultrasound in Obstetrics and Gynecology 2, no. 3 (2008): 100–111. http://dx.doi.org/10.5005/jp-journals-10009-1070.
Full textAbstract:
Abstract Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign, which is common to several pathological entities carrying different prognosis. Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of even mild forms of ventricular dilatation and is used as a screening method for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. The recognition of associated brain anomalies is a crucial point. The research of the cause of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated abnormalities. In this article the role of prenatal sonography in recognizing the cause of the ventriculomegaly is reviewed.
5
Kim, Woojun, Min Su Park, Sang Hyun Lee, Su-Hyun Kim, In Ja Jung, Toshiyuki Takahashi, Tatsuro Misu, Kazuo Fujihara, and Ho Jin Kim. "Characteristic brain magnetic resonance imaging abnormalities in central nervous system aquaporin-4 autoimmunity." Multiple Sclerosis Journal 16, no. 10 (August 4, 2010): 1229–36. http://dx.doi.org/10.1177/1352458510376640.
Full textAbstract:
Background: Although neuromyelitis optica has been traditionally regarded as a disease without brain involvement, brain abnormalities are not uncommon in patients with neuromyelitis optica-related disorders. Methods: We aimed to characterize the brain magnetic resonance imaging (MRI) abnormalities in neuromyelitis optica spectrum disorder patients who are seropositive for anti-aquaporin-4 autoantibody (AQP4 Ab). Of 236 consecutive patients with inflammatory demyelinating central nervous system diseases, we retrospectively analyzed MRI characteristics of 78 patients who were seropositive for AQP4 Ab. Results: For an average observational period of 6.3 years, 62 patients (79%) had brain lesions on MRI. Twenty-four patients (31%) had brain MRI abnormalities at the onset of disease, and 35 (45%) had symptomatic brain involvement. Characteristic brain MRI abnormalities were classified into five categories: (1) lesions involving corticospinal tracts (e.g. posterior limb of internal capsule and cerebral peduncle (44%); (2) extensive hemispheric lesions likely due to vasogenic edema (29%); (3) periependymal lesions surrounding aqueduct and the third and fourth ventricles (22%); (4) periependymal lesions surrounding lateral ventricles (40%); and (5) medullary lesions, often contiguous with cervical lesions (31%). Fifty-four patients (69%) showed at least one kind of brain abnormality among the five characteristic MRI lesions. Ten patients showed gadolinium-enhancing lesions, which were characterized by multiple patchy enhancing patterns with blurred margins. Conclusions: In central nervous system AQP4 autoimmunity, brain MRI abnormalities were more common than is generally appreciated and were characterized by their unique localization and configuration.
6
Andescavage, Nickie N., Adre DuPlessis, Robert McCarter, Gilbert Vezina, Richard Robertson, and Catherine Limperopoulos. "Cerebrospinal Fluid and Parenchymal Brain Development and Growth in the Healthy Fetus." Developmental Neuroscience 38, no. 6 (2016): 420–29. http://dx.doi.org/10.1159/000456711.
Full textAbstract:
Objective: The objective of this study was to apply quantitative magnetic resonance imaging to characterize absolute cerebrospinal fluid (CSF) development, as well as its relative development to fetal brain parenchyma in the healthy human fetus. Design: We created three-dimensional high-resolution reconstructions of the developing brain for healthy fetuses between 18 and 40 weeks' gestation, segmented the parenchymal and CSF spaces, and calculated the volumes for the lateral, third, and fourth ventricles; extra-axial CSF space; and the cerebrum, cerebellum, and brainstem. From these data, we constructed normograms of the resulting volumes according to gestational age and described the relative development of CSF to fetal brain parenchyma. Results: Each CSF space demonstrated major increases in volumetric growth during the second half of gestation: third ventricle (23-fold), extra-axial CSF (11-fold), fourth ventricle (8-fold), and lateral ventricle (2-fold). Total CSF volume was related to total brain volume (p < 0.01), as was lateral ventricle to cerebral volume (p < 0.01); however, the fourth ventricle was not related to cerebellar or brainstem volume (p = 0.18-0.19). Relevance: Abnormalities of the CSF spaces are the most common anomalies of neurologic development detected on fetal screening using neurosonography. Normative values of absolute CSF volume, as well as relative growth in comparison to intracranial parenchyma, provide valuable insight into normal fetal neurodevelopment. These data may provide important biomarkers of early deviations from normal growth, better distinguish between benign variants and early disease, and serve as reference standards for postnatal growth and development in the premature infant.
7
Shimoji, Koki, Mai Ogura, Sanae Gamou, Seki Yunokawa, Hidetoshi Sakamoto, Satoru Fukuda, and Shigeho Morita. "A new approach for observing cerebral cisterns and ventricles via a percutaneous lumbosacral route by using fine, flexible fiberscopes." Journal of Neurosurgery 110, no. 2 (February 2009): 376–81. http://dx.doi.org/10.3171/2007.12.17287.
Full textAbstract:
Object To establish a new method for the diagnosis of central nervous system diseases, the authors visualized the cerebral cisterns and ventricles via a percutaneous lumbosacral route by using newly developed fine, flexible fiberscopes. Methods Fine, flexible fiberscopes, 0.9 and 1.4 mm in diameter, were introduced up to the cerebral cisterns and ventricles through a percutaneous lumbosacral route in awake patients with chronic headache and/or neck pain or those undergoing spinal surgery and in whom MR imaging did not disclose any particular abnormalities in the brain. A lumbosacral subarachnoid puncture was made with a modified method of a continuous epidural block. Results In 25 of 31 patients tested, the cerebellomedullary and/or pontine/interpeduncular cisterns were easily and safely reached, and the brainstem structures were visualized. Advancement of the fiberscope beyond the spinal level was abandoned in 6 patients with adhesive spinal arachnoiditis, because the fiberscopes encountered resistance seemingly caused by arachnoid adhesions. Further advancement of the fiberscopes up to the fourth and third ventricles was successfully achieved in 2 patients. A number of arachnoid filaments were found in the cerebellomedullary cistern in 4 patients: 2 with chronic spinal arachnoiditis, 1 with a spinal arachnoid cyst, and 1 with posttraumatic pain syndrome. None of the patients reported pain or any major complication except a postspinal headache and light fever, which were encountered in 4 and 1 patient, respectively. Conclusions The approach to the supraspinal structures via the lumbosacral route by using a fine, flexible fiberscope may provide a new, minimally invasive, and safe way to observe the cerebral cisterns and/or brainstem regions.
8
Blondiaux, Eléonore, and Catherine Garel. "Fetal cerebral imaging – ultrasound vs. MRI: an update." Acta Radiologica 54, no. 9 (November 2013): 1046–54. http://dx.doi.org/10.1258/ar.2012.120428.
Full textAbstract:
The purpose of this article is to analyze the advantages and limitations of prenatal ultrasonography (US) and magnetic resonance imaging (MRI) in the evaluation of the fetal brain. These imaging modalities should not be seen as competitive but rather as complementary. There are wide variations in the world regarding screening policies, technology, skills, and legislation about termination of pregnancy, and these variations markedly impact on the way of using prenatal imaging. According to the contribution expected from each technique and to local working conditions, one should choose the most appropriate imaging modality on a case-by-case basis. The advantages and limitations of US and MRI in the setting of fetal brain imaging are displayed. Different anatomical regions (midline, ventricles, subependymal area, cerebral parenchyma, pericerebral space, posterior fossa) and pathological conditions are analyzed and illustrated in order to compare the respective contribution of each technique. An accurate prenatal diagnosis of cerebral abnormalities is of utmost importance for prenatal counseling.
9
Sá, Maria José, Rui Vaz, and Celso Cruz. "Cerebrospinal fluid cytomorphologic findings in 41 intracranial tumors: a retrospective review." Arquivos de Neuro-Psiquiatria 53, no. 2 (June 1995): 218–26. http://dx.doi.org/10.1590/s0004-282x1995000200006.
Full textAbstract:
The main objective of this retrospective review of clinical and cerebrospinal fluid (CSF) data from 41 patients with intracranial tumors diagnosed between 1975 and 1989, is to report the role that the finding of neoplastic cells in CSF plays, specially when cerebral CT-scanning and MRI were not currently done. Another objective is to study the CSF proteic abnormalities in cerebral tumors. CSF cell count, cytomorphologic pictures obtained after sedimentation and protein findings are described. Tumor cells were seen in 12 cases (29%): medulloblastomas - 6, meningeal carcinomatosis - 3, multiforme glioblastoma - 1, ependymoma -1, cerebral metastasis -1; in two cases it was an unexpected finding. We noticed that tumoral localization next to the ventricles favoured cell exfoliation. Although pleocytosis was rare and uncorrelated with the presence of neoplastic cells, pathological cytomorphologic pictures appeared in most of the cases including all "positive" ones. Our results stress that the appearance of neoplastic cells in CSF remains helpful specially when it is an unexpected finding.
10
Rais, M., W. Cahn, H. G. Schnack, H. E. Hulshoff Pol, R. S. Kahn, and N. E. M. van Haren. "Brain volume reductions in medication-naive patients with schizophrenia in relation to intelligence quotient." Psychological Medicine 42, no. 9 (February 23, 2012): 1847–56. http://dx.doi.org/10.1017/s0033291712000098.
Full textAbstract:
BackgroundGlobal brain abnormalities such as brain volume loss and grey- and white-matter deficits are consistently reported in first-episode schizophrenia patients and may already be detectable in the very early stages of the illness. Whether these changes are dependent on medication use or related to intelligence quotient (IQ) is still debated.MethodMagnetic resonance imaging scans were obtained for 20 medication-naive patients with first-episode schizophrenia and 26 matched healthy subjects. Volume measures of total brain grey and white matter, third and lateral ventricles and cortical thickness/surface were obtained. Differences between the groups were investigated, taking into account the effect of intelligence.ResultsMedication-naive patients showed statistically significant reductions in whole-brain volume and cerebral grey- and white-matter volume together with lateral ventricle enlargement compared to healthy subjects. IQ was significantly lower in patients compared to controls and was positively associated with brain and white-matter volume in the whole group. No significant differences in cortical thickness were found between the groups but medication-naive patients had a significantly smaller surface in the left superior temporal pole, Heschl's gyrus and insula compared to controls.ConclusionsOur findings suggest that brain volume loss is present at illness onset, and can be explained by the reduced surface of the temporal and insular cortex. These abnormalities are not related to medication, but IQ.
11
Ionescu, Cringu Antoniu, Simona Vladareanu, Stefania Tudorache, Liana Ples, Catalin Herghelegiu, Adrian Neacsu, Dan Navolan, Ioana Dragan, and Daniela Nuti Oprescu. "The wide spectrum of ultrasound diagnosis of holoprosencephaly." Medical Ultrasonography 21, no. 2 (May 2, 2019): 163. http://dx.doi.org/10.11152/mu-1614.
Full textAbstract:
Aim: Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. The aim of this study was to assess the ultrasound diagnostic criteria for HPE.Material and method: A database of 175 fetuses with central nervous system anomalies identified by ultrasound was collected retrospectively from 2006 to 2016 in this multicenter, retrospective, observational study. Among them 18 cases (10.2%) with HPE were identified.Results: The prevalence of HPE was 2.5:10.000 with the sex distributionmale:female of 1:1.6. Six cases were alobar subtype, 3 were semilobar, 7 were lobar and 2 were middle interhemispheric variant. In the second trimester, we consider that the abnormal fusion of the lateral ventricles and the absence of the cavum septum pellucidum are the most important landmarks for HPE. Facial abnormalities varied considerably.Conclusion: This study illustrates the heterogeneity of HPE with different cerebral and facial appearances.
12
Salokangas, R. K. R., T. Cannon, T. Van Erp, T. Ilonen, T. Taiminen, H. Karlsson, H. Lauerma, et al. "Structural magnetic resonance imaging in patients with first-episode schizophrenia, psychotic and severe non-psychotic depression and healthy controls." British Journal of Psychiatry 181, S43 (September 2002): s58—s65. http://dx.doi.org/10.1192/bjp.181.43.s58.
Full textAbstract:
BackgroundStructural brain abnormalities are prevalent in patients with schizophrenia and affective disorders.AimsTo study how regional brain volumes and their ratios differ between patients with schizophrenia, psychotic depression, severe non-psychotic depression and healthy controls.MethodMagnetic resonance imaging scans of the brain on first-episode patients and on healthy controls.ResultsPatients with schizophrenia had a smaller left frontal grey matter volume than the other three groups. Patients with psychotic depression had larger ventricular and posterior sulcal cerebrospinal fluid (CSF) volumes than controls. Patients with depression had larger white matter volumes than the other patients.ConclusionsLeft frontal lobe, especially its grey matter volume, seems to be specifically reduced in first-episode schizophrenia. Enlarged cerebral ventricles and sulcal CSF volumes are prevalent in psychotic depression. Preserved or expanded white matter is typical of non-psychotic depression.
13
Camarda, Cecilia, Rosolino Camarda, Carmela Pipia, Delia Azzarello, Emanuele Grassedonio, Gianluca Sottile, Giovanna Cilluffo, and Paola Torelli. "Isolated, Subtle Neurological Abnormalities in Mild Cognitive Impairment Types." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 47, no. 1 (October 28, 2019): 77–91. http://dx.doi.org/10.1017/cjn.2019.293.
Full textAbstract:
ABSTRACT:Background:Isolated, subtle neurological abnormalities (ISNA) are commonly seen in aging and have been related to cerebral small vessel disease (SVD) and subcortical atrophy in neurologically and cognitively healthy aging subjects.Objective:To investigate the frequency of ISNA in different mild cognitive impairment (MCI) types and to evaluate for each MCI type, the cross-sectional relation between ISNA and white matter hyperintensities (WMH), lacunes, caudate atrophy, and ventricular enlargement.Methods:One thousand two hundred fifty subjects with different MCI types were included in the analysis and underwent brain magnetic resonance imaging. WMHs were assessed through two visual rating scales. Lacunes were also rated. Atrophy of the caudate nuclei and ventricular enlargement were assessed through the bicaudate ratio (BCr) and the lateral ventricles to brain ratio (LVBr), respectively. Apolipoprotein E (APOE) genotypes were also assessed. The routine neurological examination was used to evaluate ISNAs that were clustered as central-based signs, cerebellar-based signs, and primitive reflexes. The items of Part-III of the Unified Parkinson’s Disease Rating Scale were used to evaluate ISNAs that were clustered as mild parkinsonian signs. Associations of ISNAs with imaging findings were determined through logistic regression analysis.Results:The ISNAs increase with the age and are present in all MCI types, particularly in those multiple domains, and carrying the APOE ϵ4 allele, and are associated with WMH, lacunes, BCr, and LVBr.Conclusion:This study demonstrates that cortical and subcortical vascular and atrophic processes contribute to ISNAs. Long prospective population-based studies are needed to disentangle the role of ISNAs in the conversion from MCI to dementia.
14
D'Addario, Vincenzo, M. Cialdella, and G. Volpe. "Diagnosis and Counseling of Fetal Mild Ventriculomegaly." Donald School Journal of Ultrasound in Obstetrics and Gynecology 10, no. 2 (2016): 154–59. http://dx.doi.org/10.5005/jp-journals-10009-1459.
Full textAbstract:
ABSTRACT Mild ventriculomegaly (MVM) is defined as a lateral ventricular diameter measured at the level of the atrium of .10 mm but < 15 mm. Prenatal evaluation includes targeted sonographic examination for central nervous system (CNS) and extra- CNS abnormalities (present in 41.4% of the cases), and diagnostic amniocentesis for chromosomal analysis (3% of chromosomopaties in isolated cases) and infectious disease studies (1.5% incidence). Individualized patient counseling is based on these test results. Optimal postnatal care involves appropriate pediatric neurologic and developmental specialists. Learning objectives After completion of this article, the reader will be able to define the normal appearance and size of the fetal cerebral ventricles, to list the conditions associated with MVM, and to counsel the parents properly. How to cite this article D'Addario V, Cialdella M, Volpe G. Diagnosis and Counseling of Fetal Mild Ventriculomegaly. Donald School J Ultrasound Obstet Gynecol 2016;10(2):154-159.
15
Bim, C., M. Pinotti, J. R. Camilo, A. L. Maset, S. S. Mansur, and E. D. R. Vieira. "CEREBROSPINAL FLUID DRAINAGE DEVICES: EXPERIMENTAL CARACTERIZATION." Revista de Engenharia Térmica 12, no. 2 (December 31, 2013): 59. http://dx.doi.org/10.5380/reterm.v12i2.62047.
Full textAbstract:
Hydrocephalus is a pathophysiology due to the excess of cerebrospinal fluid in the brain ventricles and it can be caused by congenital defects, brain abnormalities, tumors, inflammations, infections, intracranial hemorrhage and others. Hydrocephalus can be followed by significant rise of intraventricular pressure due to the excess of production of cerebrospinalfluid over the absorption, resulting in a weakening of intellectual functions, serious neurological damage (decreased movement, sensation and functions), critical physical disabilities and even death. A procedure for treatment involves the placement of a ventricular catheter into the cerebral ventricles to divert/drain the cerebrospinal fluid flow to a bag outside of the patient body – provisory treatment known as external ventricular drainage (EVD). Another option is the permanent treatment, internal ventricular drainage (IVD), promoting the cerebrospinal fluid drainage to other body cavity, being more commonly the abdominal cavity. In both cases, EVD and IVD, it is necessary to use of some type of neurological valve in order to control the flow of cerebrospinal fluid. In the present work is proposed an experimental procedure to test the hydrodynamic behavior of a complete drainage system, or parts of them, in order to verify its performance when subjected to pressure gradients found in the human body. Results show that the method is well adapted to quantify the pressure drop in neurological systems.
16
Min, JH, HJ Kim, BJ Kim, KW Lee, IN Sunwoo, SM Kim, BJ Kim, et al. "Brain abnormalities in Sjogren syndrome with recurrent CNS manifestations: association with neuromyelitis optica." Multiple Sclerosis Journal 15, no. 9 (July 22, 2009): 1069–76. http://dx.doi.org/10.1177/1352458509106228.
Full textAbstract:
Background and objectives Optic neuritis or longitudinally extensive myelitis in Sjogren syndrome (SS) suggests a neuromyelitis optica spectrum disorder (NMOSD). However, brain abnormalities of SS remain to be elucidated for the association with neuromyelitis optica (NMO). Methods Twelve primary SS patients (all women, 42 ± 13.2 years) who had recurrent central nervous system (CNS) manifestations with brain involvement were retrospectively identified. Brain MRI, and neurologic and serologic findings were analyzed with the measurement of anti-aquaporin-4 antibody (AQP4-Ab). Results All patients showed brain lesions characteristic of NMO as follows: 1) the involved sites adjacent to the third and fourth ventricles and in the posterior limb of the internal capsule, 2) unique configurations, such as the longitudinal course from the internal capsule to the midbrain, large cerebral or cerebellar lesions over 3 cm, and cavity-like formations. AQP4-Ab was positive in six of eight patients tested, and all the seropositive patients showed lesions with increased diffusion, suggestive of vasogenic edema. Four patients met the revised criteria of NMO, and nine had features of NMOSDs. Of the remaining three patients showing only brain involvement, one had AQP4-Ab. Conclusions This study demonstrates that SS patients with recurrent CNS involvement have brain abnormalities characteristic of NMO and AQP4-Ab in Korea. The presence of AQP4-Ab in one SS patient with only brain involvement may suggest that the coexistence of NMO should be explored in SS patients with recurrent CNS manifestations, even without optic neuritis or myelitis.
17
Gluncic, V., M. Moric, Y. Chu, V. Hanko, J. Li, I. K. Lukić, A. Lukić, et al. "In utero Exposure to Anesthetics Alters Neuronal Migration Pattern in Developing Cerebral Cortex and Causes Postnatal Behavioral Deficits in Rats." Cerebral Cortex 29, no. 12 (April 11, 2019): 5285–301. http://dx.doi.org/10.1093/cercor/bhz065.
Full textAbstract:
Abstract During fetal development, cerebral cortical neurons are generated in the proliferative zone along the ventricles and then migrate to their final positions. To examine the impact of in utero exposure to anesthetics on neuronal migration, we injected pregnant rats with bromodeoxyuridine to label fetal neurons generated at embryonic Day (E) 17 and then randomized these rats to 9 different groups receiving 3 different means of anesthesia (oxygen/control, propofol, isoflurane) for 3 exposure durations (20, 50, 120 min). Histological analysis of brains from 54 pups revealed that significant number of neurons in anesthetized animals failed to acquire their correct cortical position and remained dispersed within inappropriate cortical layers and/or adjacent white matter. Behavioral testing of 86 littermates pointed to abnormalities that correspond to the aberrations in the brain areas that are specifically developing during the E17. In the second set of experiments, fetal brains exposed to isoflurane at E16 had diminished expression of the reelin and glutamic acid decarboxylase 67, proteins critical for neuronal migration. Together, these results call for cautious use of anesthetics during the neuronal migration period in pregnancy and more comprehensive investigation of neurodevelopmental consequences for the fetus and possible consequences later in life.
18
Andela, Cornelie D., Femke M. van Haalen, Oskar Ragnarsson, Eleni Papakokkinou, Gudmundur Johannsson, Alicia Santos, Susan M. Webb, Nienke R. Biermasz, Nic J. A. van der Wee, and Alberto M. Pereira. "MECHANISMS IN ENDOCRINOLOGY: Cushing's syndrome causes irreversible effects on the human brain: a systematic review of structural and functional magnetic resonance imaging studies." European Journal of Endocrinology 173, no. 1 (July 2015): R1—R14. http://dx.doi.org/10.1530/eje-14-1101.
Full textAbstract:
BackgroundCushing's syndrome (CS) is characterized by excessive exposure to cortisol, and is associated with both metabolic and behavioral abnormalities. Symptoms improve substantially after biochemical cure, but may persist during long-term remission. The causes for persistent morbidity are probably multi-factorial, including a profound effect of cortisol excess on the brain, a major target area for glucocorticoids.ObjectiveTo review publications evaluating brain characteristics in patients with CS using magnetic resonance imaging (MRI).MethodsSystematic review of literature published in PubMed, Embase, Web of Knowledge, and Cochrane databases.ResultsNineteen studies using MRI in patients with CS were selected, including studies in patients with active disease, patients in long-term remission, and longitudinal studies, covering a total of 339 unique patients. Patients with active disease showed smaller hippocampal volumes, enlarged ventricles, and cerebral atrophy as well as alterations in neurochemical concentrations and functional activity. After abrogation of cortisol excess, the reversibility of structural and neurochemical alterations was incomplete after long-term remission. MRI findings were related to clinical characteristics (i.e., cortisol levels, duration of exposure to hypercortisolism, current age, age at diagnosis, and triglyceride levels) and behavioral outcome (i.e., cognitive and emotional functioning, mood, and quality of life).ConclusionPatients with active CS demonstrate brain abnormalities, which only partly recover after biochemical cure, because these still occur even after long-term remission. CS might be considered as a human model of nature that provides a keyhole perspective of the neurotoxic effects of exogenous glucocorticoids on the brain.
19
Petersen, L. G., J. C. G. Petersen, M. Andresen, N. H. Secher, and M. Juhler. "Postural influence on intracranial and cerebral perfusion pressure in ambulatory neurosurgical patients." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 310, no. 1 (January 1, 2016): R100—R104. http://dx.doi.org/10.1152/ajpregu.00302.2015.
Full textAbstract:
We evaluated postural effects on intracranial pressure (ICP) and cerebral perfusion pressure [CPP: mean arterial pressure (MAP) − ICP] in neurosurgical patients undergoing 24-h ICP monitoring as part of their diagnostic workup. We identified nine patients (5 women, age 44 ± 20 yr; means ± SD), who were “as normal as possible,” i.e., without indication for neurosurgical intervention (e.g., focal lesions, global edema, abnormalities in ICP-profile, or cerebrospinal fluid dynamics). ICP (tip-transducer probe; Raumedic) in the brain parenchyma ( n = 7) or in the lateral ventricles ( n = 2) and cardiovascular variables (Nexfin) were determined from 20° head-down tilt to standing up. Compared with the supine position, ICP increased during 10° and 20° of head-down tilt (from 9.4 ± 3.8 to 14.3 ± 4.7 and 19 ± 4.7 mmHg; P < 0.001). Conversely, 10° and 20° head-up tilt reduced ICP to 4.8 ± 3.6 and 1.3 ± 3.6 mmHg and ICP reached −2.4 ± 4.2 mmHg in the standing position ( P < 0.05). Concordant changes in MAP maintained CPP at 77 ± 7 mmHg regardless of body position ( P = 0.95). During head-down tilt, the increase in ICP corresponded to a hydrostatic pressure gradient with reference just below the heart, likely reflecting the venous hydrostatic indifference point. When upright, the decrease in ICP was attenuated, corresponding to formation of a separate hydrostatic gradient with reference to the base of the skull, likely reflecting the site of venous collapse. ICP therefore seems to be governed by pressure in the draining veins and collapse of neck veins may protect the brain from being exposed to a large negative pressure when upright. Despite positional changes in ICP, MAP keeps CPP tightly regulated.
20
Chamova, Teodora, Dora Zlatareva, Margarita Raycheva, Stoyan Bichev, Luba Kalaydjieva, and Ivailo Tournev. "Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome." Behavioural Neurology 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/639539.
Full textAbstract:
Congenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.
21
Rosa, Rafael Fabiano Machado, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, and Paulo Ricardo Gazzola Zen. "Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report." Sao Paulo Medical Journal 133, no. 4 (October 17, 2014): 377–80. http://dx.doi.org/10.1590/1516-3180.2013.7930003.
Full textAbstract:
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives). The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.
22
Boldorini, Renzo, Gabriele Panzarasa, Paola Girardi, and Guido Monga. "Primary choroid plexus papilloma of the sacral nerve roots." Journal of Neurosurgery: Spine 10, no. 1 (January 2009): 51–53. http://dx.doi.org/10.3171/2008.10.spi08277.
Full textAbstract:
The authors describe a unique case of a choroid plexus papilloma of the sacral nerve roots. This 60-year-old woman was admitted to the hospital because of a 1-year history of sacral pain, rectal and urinary bladder retention, and paradoxical episodic incontinence. Physical examination revealed sensory abnormalities in the S-2 dermatomes and poor rectal and bladder sphincter contractions. Contrast-enhanced spinal MR imaging showed a well-circumscribed, ovoid, homogeneously enhancing mass at the S1–2 level suggesting a diagnosis of ependymoma or schwannoma, and surgery allowed the identification and complete removal of a soft gray mass intimately adhering to the sacral nerve roots. Histological examination revealed a tumor consisting of papillary structures lined by a single layer of columnar cells, with an immunophenotype that satisfied the diagnostic criteria of choroid plexus papilloma. After diagnosis, contrast-enhanced brain MR imaging excluded the presence of a primary choroid plexus papilloma in the cerebral ventricles, thus ruling out a drop metastasis along the CSF pathways. A review of the literature did not reveal any similar cases of choroid plexus papilloma, and so the authors also discuss the inclusion of primary or metastatic papillary tumors in this unusual location as part of the differential diagnosis.
23
Diaz, Jorge, Xavier Gérard, Michel-Boris Emerit, Julie Areias, David Geny, Julie Dégardin, Manuel Simonutti, et al. "YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations." Brain 143, no. 10 (October 1, 2020): 2911–28. http://dx.doi.org/10.1093/brain/awaa235.
Full textAbstract:
Abstract Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. A similar profile was observed in the Yif1b knockout (KO) mouse model developed to identify the cellular alterations involved in the clinical defects. In the CNS, mice lacking Yif1b displayed neuronal reduction, altered myelination of the motor cortex, cerebellar atrophy, enlargement of the ventricles, and subcellular alterations of endoplasmic reticulum and Golgi apparatus compartments. Remarkably, although YIF1B was not detected in primary cilia, biallelic YIF1B mutations caused primary cilia abnormalities in skin fibroblasts from both patients and Yif1b-KO mice, and in ciliary architectural components in the Yif1b-KO brain. Consequently, our findings identify YIF1B as an essential gene in early post-natal development in human, and provide a new genetic target that should be tested in patients developing a neurodevelopmental delay during the first year of life. Thus, our work is the first description of a functional deficit linking Golgipathies and ciliopathies, diseases so far associated exclusively to mutations in genes coding for proteins expressed within the primary cilium or related ultrastructures. We therefore propose that these pathologies should be considered as belonging to a larger class of neurodevelopmental diseases depending on proteins involved in the trafficking of proteins towards specific cell membrane compartments.
24
Gkinis, G., N. Ortiz, C. Alberque, and A. Canuto. "Brain Changes In Anorexia Nervosa." European Psychiatry 33, S1 (March 2016): S431. http://dx.doi.org/10.1016/j.eurpsy.2016.01.1558.
Full textAbstract:
Anorexia Nervosa (AN) is a serious and frequent psychiatric condition with the highest mortality rate within psychiatric diseases. It often starts during adolescence and affects young patients whose brain maturity is still incomplete but brain changes are often underconsidered although AN appears at a critical point of development.Brain regions involved in the pathophysiology of AN are still in debate. However, the illness is often associated with enlargement of the cortical sulci and ventricles as well as with deficits in grey and white matter volumes. Functional modifications have also been evidenced: mainly global hypometabolism (PET), hypoperfusions (SPECT) and recent fMRI studies have shown that the function of the insular and cingulate cortices, in particular, differ in AN.Neuropsychological studies have also shown neurocognitive impairments concerning executive functions, episodic and working memory as well as attentional deficits.In 1999, Geneva University Hospitals set up a medical-psychiatric unit located in the district general hospital. This structure allows dealing with severe somatic problems as medical and nursing staffs are psychiatric and somatic specialists. AN patients are over 16, often hospitalised for the first time and have very low BMI (< 14). From the clinical observation of these patients who show significant attentional deficits, we explored whether cerebral abnormalities were present with structural MRI and Neuropsychological assessments.We will describe the preliminary results of our clinical experience and consider their implication for the understanding of AN mechanisms. We will also discuss the links between psychopathology and brain impairments that could lead to more efficient treatments.Disclosure of interestThe authors have not supplied their declaration of competing interest.
25
Gaffney, Gary R., Samuel Kuperman, Luke Y. Tsai, Susan Minchin, and Khatab M. Hassanein. "Midsagittal Magnetic Resonance Imaging of Autism." British Journal of Psychiatry 151, no. 6 (December 1987): 831–33. http://dx.doi.org/10.1192/bjp.151.6.831.
Full textAbstract:
Since recent reports suggest structural brain abnormalities in autistic patients, we analysed magnetic resonance imaging (MAI) scans of autistic children. Planimetric measurements were done on midsagittal MRI scans, produced with a 0.5 T superconducting magnet. Scans of 13 ‘high-level’ austic subjects were compared with 35 control MRI scans, read as anatomically normal by a neuroradiologist. Corpus callosal, fourth ventricular, cerebellar, cerebral, and cranial areas were measured. The fourth ventricle was found to be significantly larger in the autistic group. No other areas in the midsagittal scans differed statistically between groups. Results suggest that structures defining the fourth ventricle are anatomically altered in autistic patients.
26
Rangel-Castilla, Leonardo, Jaime Torres-Corzo, Roberto Rodriguez Della Vecchia, Aaron Mohanty, and Haring J. W. Nauta. "Coexistent intraventricular abnormalities in periventricular giant arachnoid cysts." Journal of Neurosurgery: Pediatrics 3, no. 3 (March 2009): 225–31. http://dx.doi.org/10.3171/2008.11.peds08106.
Full textAbstract:
Object Arachnoid cysts are congenital lesions that arise during development by splitting of the arachnoid membrane. Large cysts can be adjacent to CSF pathways causing a marked midline shift and hydrocephalus. The association between a large arachnoid cyst and hydrocephalus has been commonly described as being due to a mass effect, but these previous reports have not focused closely on any associated intraventricular abnormalities. Methods Seven patients who were previously treated with a cystoperitoneal shunt presented with shunt failure, hydrocephalus, and/or cyst expansion. All of these patients had giant arachnoid cysts extending to the periventricular region from the original site, which was the sylvian fissure in 4 patients, and the suprasellar cistern, quadrigeminal cistern, and interhemispheric fissure in 1 patient each. Endoscopic exploration of the ventricular system and cyst fenestration was then performed in all patients. Results The endoscopic findings were obstruction of the cerebral aqueduct by a membrane not related to the cyst in 5 patients, occlusion of the foramen of Monro in 6, septum pellucidum hypoplasia in 2, and occlusion of the cerebral aqueduct by a quadrigeminal arachnoid cyst in 1. Endoscopic procedures performed were septum pellucidum fenestration and/or foraminoplasty in 5 patients, aqueductoplasty in 2, endoscopic third ventriculostomy in 5, fenestration of the lamina terminalis in 1, and direct cystocisternostomy in 1. After the endoscopic procedure, signs and symptoms of increased intracranial pressure and hydrocephalus improved in all patients, with a reduction in size of the cyst and the ventricle. Conclusions Ventricular abnormalities contributing to hydrocephalus may be associated with arachnoid cysts. These abnormalities may more likely reflect a common origin than a casual relation. Foramen of Monro stenosis and cerebral aqueduct occlusion associated with an arachnoid cyst can be more frequent than has been previously believed. In cases of periventricular giant arachnoid cysts, endoscopic exploration is a good alternative for examining the ventricular system and identifying and treating CSF obstructions caused by and/or related to arachnoid cysts.
27
Terra-Bustamante, Vera C., Hélio R. Machado, and Américo C. Sakamoto. "Hemimegalencephaly and epilepsy: an overview." Journal of Epilepsy and Clinical Neurophysiology 12, no. 2 (June 2006): 99–105. http://dx.doi.org/10.1590/s1676-26492006000300010.
Full textAbstract:
INTRODUCTION: Cerebral cortical development is a highly complex process influenced by environmental, genetic and functional abnormalities. Hemimegalencephaly (HME) is a rare brain malformation that involves overgrowth of one hemisphere. Clinically macrocephaly, mental retardation, contralateral hemiparesis, hemianopsia and intractable epilepsy may be present. Diagnosis is mainly done with image and clinical findings. MRI typically reveals an enlarged cerebrum involving at least one lobe, with a thickened cortex; broad gyres; abnormal gray-white matter differentiation with abnormal sign; neuronal heterotopia, ventricle asymmetry, and basal ganglia and internal capsule abnormalities. Electroencephalographic abnormalities usually involve the affected hemisphere, with an asymmetric amplitude of the normal, age-related rhythms; slow, rhythmic or fast activity and multifocal unilateral or bilateral high-amplitude spikes and spike-wave complexes. Histopathologic changes include abnormal gyrification, with loss of cortical lamination, neuronal heterotopia, gliosis, large bizarre neurons and balloon-cells. The presence of highly refractory seizures in patients with HME is an important factor to consider epilepsy surgery in these patients. METHODS: Multiple surgical techniques are actually being used for hemispheric disconnection. We discuss here the main surgical techniques that are used for hemispheric disconnection. CONCLUSIONS: Postsurgery outcome for HME may be not as good as that for focal lesions with approximately 40% of patients being seizure free, but the main indication for surgery in these patients may be preventing additional cognitive injury and developmental delay. Surgical complications are observed in most of the series of patients with HME submitted to hemispheric surgery. Minimal resections may contribute do diminish surgical complications.
28
Naruse, Ichiro, and Yoshihiro Tsutsui. "Brain abnormalities induced by murine cytomegalovirus injected into the cerebal ventricles of mouse embryos exo utero." Teratology 40, no. 2 (August 1989): 181–89. http://dx.doi.org/10.1002/tera.1420400212.
Full text
29
Callegari, Alessia, Martin Christmann, Manuela Albisetti, Oliver Kretschmar, and Daniel Quandt. "Single Ventricle Physiology Patients and Coagulation Abnormalities: Is There a Relationship With Hemodynamic Data and Postoperative Course? A Pilot Study." Clinical and Applied Thrombosis/Hemostasis 25 (January 1, 2019): 107602961988869. http://dx.doi.org/10.1177/1076029619888695.
Full textAbstract:
This study evaluates coagulation profiles of single ventricle (SV) patients in relationship to liver function, hemodynamic variables and outcome. Twenty-six children with SV anatomy were included. Advanced coagulation profiles, invasive preoperative hemodynamic parameters and clinical course were retrospectively analyzed. Median (interquartile range) age and weight at the time of blood sampling was 25.5 (31) months and 10.5 (6.9) kg. Sixteen patients (16/26; 62%) showed decreased antithrombin and/or protein C (PC) and/or free protein S (PS) function and/or free PS antigen. Two patients showed abnormal activated PC resistance ratio due to heterozygous factor V Leiden mutation and 1 heterozygous prothrombin G20210A mutation. Group comparison (abnormal coagulation profile [group 1; n = 16] versus normal coagulation profile [group 2; n = 10]) showed longer postoperative hospitalization time ( p = .04), longer postoperative catecholamine support ( p = .01), a higher incidence of thromboembolic events ( p = .04), and chylothoraxes ( p = .007) in group 1. In 5 (31%) of 16 group 1 patients, thromboembolic complications occurred: cerebral stroke (n = 1), intestinal ischemia (n = 2), thrombus formation in inferior caval vein (n = 1), and pulmonary vein (n = 1). Abnormalities in coagulation parameters are common in SV patients. Coagulation abnormalities constitute a preoperative risk factor and affect postoperative course.
30
Schröder, J., F. J. Geider, and H. Sauer. "Can Computerised Tomography be Used to Predict Early Treatment Response in Schizophrenia?" British Journal of Psychiatry 163, S21 (September 1993): 13–15. http://dx.doi.org/10.1192/s0007125000292428.
Full textAbstract:
The relationship between early treatment response and CT variables was investigated in 50 consecutively admitted patients with DSM-III schizophrenia. Treatment response was defined as the absolute BPRS improvement during patients' hospital stay and was found to be significantly correlated (P<0.05) with the frontal horn ratio (r = −0.36), ventricular ratio (r = −0.32), width of the third ventricle (r= −0.37), width of the frontal interhemispheric fissure (r = −0.33), and average width of the three largest cortical sulci (r = −0.46). According to the results of multiple regression analysis, 35% of the variance in the treatment response was accounted for by the average width of the three largest cortical sulci, the ventricular ratio and the frontal horn ratio. Thus, cerebral abnormalities associated with poor treatment response do not seem to be limited to one particular morphological site, but involve different brain regions.
31
Ferreira, Amanda O., Bruno G. Vasconcelos, Phelipe O. Favaron, Amilton C. Santos, Rafael M. Leandro, Flávia T. V. Pereira, Durvanei A. Maria, and Maria Angélica Miglino. "Bovine central nervous system development." Pesquisa Veterinária Brasileira 38, no. 1 (January 2018): 147–53. http://dx.doi.org/10.1590/1678-5150-pvb-5020.
Full textAbstract:
ABSTRACT: Central nervous system (CNS) development researches are extremely important to the most common congenital disorders and organogenesis comprehension. However, few studies show the entire developmental process during the critical period. Present research can provide data to new researches related to normal development and abnormalities and changes that occur along the CNS organogenesis, especially nowadays with the need for preliminary studies in animal models, which could be used for experimental research on the influence of viruses, such as the influence of Zika virus on the development of the neural system and its correlation with microcephaly in human newborns. Then, present study describes CNS organogenesis in cattle according to microscopic and macroscopic aspects, identifying structures and correlating to gestational period. Fourteen embryos and nine bovine fetuses at different ages were collected and analyzed. All individuals were measured in order to detect the gestational period. Bovine embryo at 17 days age has its neural tube, cranial neuropore, caudal neuropore and somites developed. After 24 days of development, were observed in cranial part of neural tube five encephalic vesicles denominated: telencephalon, diencephalon, mesencephalon, metencephalon and myelencephalon. In addition, the caudal part of neural tube was identified with the primitive spinal cord. The primordial CNS differentiation occurred from 90 to 110 days. The five encephalic vesicles, primordial spinal cord and the cavities: third ventricule, mesencephalic aqueduct, fourth ventricle and central canal in spinal cord were observed. With 90 days, the main structures were identified: (1) cerebral hemispheres, corpus callosum and fornix, of the telencephalon; (2) interthalamic adhesion, thalamus, hypothalamus and epythalamus (glandula pinealis), of the diencephalon; (3) cerebral peduncles and quadruplets bodies, of the mesencephalon; (4) pons and cerebellum, of the metencephalon; (5) medulla oblongata or bulb, of the myelencephalon; and (6) spinal cord, of the primitive spinal cord. After 110 days of gestation, the five encephalic vesicles and its structures were completely developed. It was noted the presence of the spinal cord with the cervicothoracic and lumbossacral intumescences. In summary, the results describes the formation of the neural tube from the neural plate of the ectoderm, the encephalic vesicles derived from the neural tube and subsequent structural and cavities subdivisions, thus representing the complete embryology of the central nervous system.
32
Maroney, Susan A., Paul Ellery, Nicholas D. Martinez, Mark Zogg, Hartmut Weiler, and Alan E. Mast. "Hyperactivatable Protein C Expression Partially Rescues the Embryonic Lethality of TFPI Null Mice but Surviving Mice Develop Severe Hydrocephalus." Blood 126, no. 23 (December 3, 2015): 422. http://dx.doi.org/10.1182/blood.v126.23.422.422.
Full textAbstract:
Abstract Introduction: Tissue factor pathway inhibitor (TFPI) and thrombomodulin (TM) are the two anticoagulant proteins directly bound to endothelium. TFPI inhibits the initiation of coagulation by inhibiting TF-FVIIa and early forms of prothrombinase. TM slows the propagation of coagulation by promoting the activation of protein C (APC), which inactivates FVa and FVIIIa. An in vitro model system of purified coagulation proteins has shown that TFPI and thrombomodulin act synergistically to quench tissue factor mediated thrombin generation via neutralization of prothrombinase activity. However, it is unclear how these two proteins cooperate within different vascular beds in vivo, particularly in the brain that has large amounts of tissue factor procoagulant activity. We have previously shown that mice with decreased thrombomodulin function (TMpro) do not have cerebral fibrin deposition even following LPS injection, while partial TFPI deficiency does induce intravascular fibrin deposition in the brain of the TMpro mice, suggesting that these two anticoagulant proteins have distinct functions within the brain vasculature. TFPI null mice die in utero with brain fibrin deposition. A hyperactivatable murine protein C (hMPC) can be produced by altering two acidic amino acids near the thrombin cleavage site. hMPC is activated 30-fold more efficiently by thrombin than wild type protein C and its activation does not require TM. We have used murine model systems to investigate how hMPC expression alters the (patho)physiology of mice with TFPI deficiency. Methods: Transgenic mice producing hMPC under control of the transthyretin promoter were produced. hMPC was bred into TFPI+/- mice, which were then characterized to define the anticoagulant activity of the transgene. Offspring from these initial matings were interbred to determine if hMPC expression would rescue the embryonic lethality of TFPI null mice. Results: hMPC expression elevated plasma protein C 2-fold and plasma APC 3-fold producing a potent anticoagulant effect. In thrombin generation assays, plasma from TFPI+/-/hMPC+ mice had peak thrombin generation of 44.9±7.5 nM vs. 63.0±3.5 nM in TFPI+/-/hMPC- mice (p<0.001). In a TF-induced pulmonary embolism model 5 of 14 TFPI+/-/hMPC+ mice survived over 5 minutes, while only 1 of 10 TFPI+/-/hMPC- did (p=0.02). When TFPI+/-/hMPC+ mice were mated with TFPI+/-/hMPC- mice, TFPI-/-/hMPC+ pups were born at approximately 30% of the expected frequency regardless of whether the transgene was expressed by the mother or the father. About 35% of the surviving TFPI-/-/hMPC+ mice developed a domed shaped head and succumbed to severe hydrocephalus by 8 weeks of age. Those surviving beyond 8 weeks did not develop severe hydrocephalus and were fertile. One TFPI-/-/hMPC+ mouse with a domed shaped head survived long enough to be examined by MRI, which documented severe hydrocephalus. In addition, two lesions (1mm and 0.5 mm diameter) were present in remaining brain tissue. These lesions contained iron suggesting they were areas of blood clot or hemorrhage. MRI exam of 12 week old TFPI-/-/hMPC+ mice identified subclinical hydrocephalus in 1 of 4 mice. Hydrocephalus did not occur in TFPI+/+/hMPC+ or TFPI+/-/hMPC+ mice. Histological examination of brain tissue from TFPI-/-/hMPC+ mice confirmed hydrocephalus with little remaining normal brain tissue. Mice with hydrocephalus had hemorrhage in the ventricles and brain parenchyma that was associated with areas of fibrin(ogen) deposition. There was also congestion of pial vessels and hemorrhage within the subarachnoid space. These findings were not observed in TFPI+/-/hMPC+ mice. Conclusions: Expression of the hMPC transgene produces a potent anticoagulant effect that partially rescues TFPI null embryonic lethality. Surviving TFPI-/-/hMPC+ pups are susceptible to death from severe hydrocephalus associated with hemorrhage and vascular abnormalities in the brain as they mature. These findings demonstrate that TFPI produces physiologically important anticoagulant activity within murine brain vasculature that is not fully compensated by over-expression of activated protein C. Disclosures Mast: Novo Nordisk: Honoraria, Research Funding.
33
Nkoke, Clovis, Engelbert Bain Luchuo, Denis Teuwafeu, Ines Nepetsoun, and Cyrille Nkouonlack. "Chronic Subdural Hematoma Associated with Thrombocytopenia in a Patient with Human Immunodeficiency Virus Infection in Cameroon." Case Reports in Neurological Medicine 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/5395829.
Full textAbstract:
Hematological abnormalities including thrombocytopenia are common in patients living with HIV infection. Patients with HIV infection related thrombocytopenia present generally with only minor bleeding problems. But cases of subdural hematoma are very rare. A 61-year-old female with a history of HIV infection of 9 years’ duration presented with a 3-month history of generalized headache associated with visual blurring and anterograde amnesia. There was no history of trauma or fever. She was treated empirically for cerebral toxoplasmosis for 6 weeks without any improvement of the symptoms. One week prior to admission, she developed weakness of the left side of the body. Clinical examination revealed left-sided hemiparesis. Computed tomography scan of the brain showed a 25 mm chronic right frontoparietotemporal subdural hematoma compressing the lateral ventricle with midline shift. There was no appreciable cerebral atrophy. A complete blood count showed leucopenia and thrombocytopenia at 92,000 cells/mm3. Her CD4-positive cell count was 48 cells/mm3 despite receiving combination antiretroviral therapy for 9 years. A complete blood count analysis suggestive of thrombocytopenia should raise suspicion of possibilities of noninfectious focal brain lesions like subdural hematoma amongst HIV infected patients presenting with nonspecific neurological symptoms. This will enable prompt diagnosis and allow early appropriate intervention.
34
Nakamura, Yasuhiro, Michiyo Takaira, Etsuko Sato, Katuichi Kawano, Osamu Miyoshi, and Norio Niikawa. "A Tetraploid Liveborn Neonate: Cytogenetic and Autopsy Findings." Archives of Pathology & Laboratory Medicine 127, no. 12 (December 1, 2003): 1612–14. http://dx.doi.org/10.5858/2003-127-1612-atlnca.
Full textAbstract:
Abstract Cytogenetic and autopsy findings of a nonmosaic tetraploid male neonate, alive until shortly after birth at 37 weeks' gestation, are described. Oligohydramnios, intrauterine growth retardation, cranial abnormalities, and Dandy-Walker malformation were noted prenatally. Autopsy findings included cleft lip and palate; overlapping fingers; low-set ears; simian creases; hypoplastic external genitalia with undescended testes; Dandy-Walker malformation; slightly dilated lateral and third ventricles; hypoplasia of the cerebrum, pons, medulla, pituitary gland, thymus, lung, adrenal gland, and kidney; large ventricular septal defect; and enteric cyst behind the urinary bladder. The placenta was hypoplastic and showed no remarkable abnormalities, except for mild syncytial knots. Chromosome analyses of amniotic fluid cells at 31 weeks' gestation and the umbilical cord blood cells at delivery revealed a 92,XXYY karyotype. G-, C-, Q-, and N-banding heteromorphic studies demonstrated duplication of paternal chromosomes 1, 3, and 15, and maternal chromosome 22. In addition, the results of an analysis with 16 CA repeat polymorphic markers were consistent with duplicated inheritance of 1 paternal and 1 maternal haploid sets to the tetraploid patient. Therefore, it is most likely that the tetraploidy was caused by a cytoplasmic cleavage failure at the first mitotic division.
35
Gaburo, N., J. Freire de Carvalho, C. Timo-Iaria, C. Bueno, M. Reichlin, V. S. T. Viana, and E. Bonfá. "Electrophysiological dysfunction induced by anti-ribosomal P protein antibodies injection into the lateral ventricle of the rat brain." Lupus 26, no. 5 (April 2017): 463–69. http://dx.doi.org/10.1177/0961203316666185.
Full textAbstract:
Objective Anti-ribosomal P antibodies (anti-P) are strongly associated with neuropsychiatric lupus. This study was designed to determine whether these antibodies are capable of causing electro-oscillogram (EOSG) and behavior alterations in rats. Methods IgG fraction anti-P positive and affinity-purified anti-P antibodies were injected intraventricularly in rats. Sequential cortical and subcortical EOSGs were analyzed during 30 days. IgG anti-Ro/SS-A and normal IgG were used as controls. Results All 13 animals injected with IgG anti-P demonstrated a high prevalence of polyspikes, diffusely distributed in hippocampal fields and cerebral cortex. These abnormalities persisted approximately a month. Remarkably, an identical electrical disturbance was observed with the inoculation of affinity-purified anti-P antibodies. The EOSG alterations were associated with behavioral disorders with varying degrees of severity in every animal injected with anti-P. In contrast, no changes in EOSG or behavioral disturbances were observed in the control group. Conclusion Our study indicates that anti-P antibodies can directly induce electrophysiological dysfunction in central nervous system particularly in hippocampus and cortex associated with behavior disturbances.
36
David, AS, C. Minne, P. Jones, I. Harvey, and MA Ron. "Structure and function of the corpus callosum in schizophrenia: What's the connection?" European Psychiatry 10, no. 1 (1995): 28–35. http://dx.doi.org/10.1016/0767-399x(96)80072-1.
Full textAbstract:
SummaryTests of both structure and function of the corpus callosum have revealed abnormalities in schizophrenic patients. One such functional test employed lateralised Stroop stimuli presented tachistoscopically, to measure the transfer of interference and facilitation between the cerebral hemispheres. An attempt was made to relate indices of callosal transfer to clinical and demographic variables, including family history, as well as to indices of brain morphology. The latter included ventricle: brain ratio (VBR) measured by computed tomography (CT) scanning on 31 DSMIII schizophrenics, and the cross-sectional area of the corpus callosum from magnetic resonance imaging (MRI), obtained from 20 of these patients. VBR did not relate to functional measures; however, anterior callosal area correlated with indices of callosal connectivity. Patients with auditory hallucinations had smaller anterior callosal areas and tended to show less connectivity. The results show links between functional and structural measures of the corpus callosum, but their precise nature remains unclear.
37
Abramson, D., A. Fredrick, Z. Bell, and J. Fink. "B-30 Sturge-Weber Syndrome in Adulthood: A Case Study of Superior Cognitive Reserve." Archives of Clinical Neuropsychology 34, no. 6 (July 25, 2019): 976. http://dx.doi.org/10.1093/arclin/acz034.113.
Full textAbstract:
Abstract Objective Sturge-Weber Syndrome (SWS) is a neurological disorder usually diagnosed in childhood and characterized by facial port-wine stains, seizures, and intracranial vascular malformations. SWS is associated with a variety of neuropsychological presentations in children, but the adult cognitive profile of this disease is not well established. Specifically, little is known about how cerebral abnormalities found using Magnetic Resonance Imaging (MRI) correlate with cognitive difficulties in adulthood or if certain prognostic factors can predict cognitive outcome. Methods The present case involved a 53-year-old, left-handed, Caucasian female with 20 years of education with SWS, possible seizures, multiple concussions, posttraumatic stress disorder (PTSD; multiple reported traumas) and bipolar disorder, referred for a neuropsychological evaluation for progressive problems with memory, word-finding, and coordination over the last 14 years. A neuropsychological evaluation was administered and structural neuroimaging was reviewed. Results MRI studies revealed left hemispheric atrophy with enlargement of the left ventricle, cortical calcification in the left temporo-occipital region, cerebrovascular disease particularly in the frontal lobes, and vascular malformations. Despite severe neuroanatomical abnormalities associated with SWS, as well as comorbid psychiatric disorders, a neuropsychological evaluation revealed a relatively intact cognitive profile, with only scattered minor inefficiencies in attention/processing speed, executive functioning, and motor functioning. Conclusions This case provided an example of good prognosis of SWS in adulthood, despite significant brain abnormalities, potential seizure activity, multiple concussions, and psychiatric comorbidity. Further research is needed to conceptualize the neuropsychological impact of SWS in adulthood, specifically whether aspects of superior cognitive reserve (e.g., higher education) are associated with better prognosis.
38
Gunturu, S., L. Schmalz, J. Zebelian, L. Gonzalez, C. Drazinic, and P. Korenis. "Psychosis and Schizencephaly – A Case Report and Systematic Review." European Psychiatry 41, S1 (April 2017): S. http://dx.doi.org/10.1016/j.eurpsy.2017.01.1035.
Full textAbstract:
Psychotic symptoms have been reported in association with a wide array of brain abnormalities. Few published reports have examined the association between schizencephaly and psychiatric illness. Originally defined by Wilmarth and later by Yakolev and Wadsworth – Schizencephaly is an uncommon congenital disorder of cerebral cortical development, defined as a grey matter-lined cleft extending from the pial surface to the ventricle. The nosology is based on neuroradiologic findings and confirmed by neuropathology when available. The Clinical presentation and neurodevelopmental outcomes of the disorder vary and are usually related to the extent/areas of the brain involved. In this article we review the medical literature around Schizencephaly paying particular attention to the pathophysiology, etiology and diagnosis of such patients. We then present a case of Schizencephaly and first episode psychosis in a 16-year-old adolescent who was admitted to our inpatient psychiatric service. Lastly, we present the findings of a systematic review from PubMed whereby we summarize 10 cases of Schizencephaly with associated psychiatric symptoms.Disclosure of interestThe authors have not supplied their declaration of competing interest.
39
PALMEN, SASKIA J. M. C., HILLEKE E. HULSHOFF POL, CHANTAL KEMNER, HUGO G. SCHNACK, MARGRIET M. SITSKOORN, MELANIE C. M. APPELS, RENÉ S. KAHN, and HERMAN VAN ENGELAND. "Brain anatomy in non-affected parents of autistic probands: a MRI study." Psychological Medicine 35, no. 10 (May 12, 2005): 1411–20. http://dx.doi.org/10.1017/s0033291705005015.
Full textAbstract:
Background. Autism is a neurodevelopmental disorder with an estimated genetic origin of 90%. Previous studies have reported an increase in brain volume of approximately 5% in autistic subjects, especially in children. If this increase in brain volume is genetically determined, biological parents of autistic probands might be expected to show brain enlargement, or at least intracranial enlargement, as well. Identifying structural brain abnormalities under genetic control is of particular importance as these could represent endophenotypes of autism.Method. Using quantitative anatomic brain magnetic resonance imaging, volumes of intracranial, total brain, frontal, parietal, temporal and occipital lobe, cerebral and cortical gray and white matter, cerebellum, lateral ventricle, and third ventricle were measured in biological, non-affected parents of autistic probands (19 couples) and in healthy, closely matched control subjects (20 couples).Results. No significant differences were found between the parents of the autistic probands and healthy control couples in any of the brain volumes. Adding gender as a factor in a second analysis did not reveal a significant interaction effect of gender by group.Conclusions. The present sample of biological, non-affected parents of autistic probands did not show brain enlargements. As the intracranium is not enlarged, it is unlikely that the brain volumes of the parents of autistic probands have originally been enlarged and have been normalized. Thus, increased brain volume in autism might be caused by the interaction of paternal and maternal genes, possibly with an additional effect of environmental factors, or increased brain volumes might reflect phenotypes of autism.
40
Menezes, Arnold H., Jeremy D. W. Greenlee, and Brian J. Dlouhy. "Syringobulbia in pediatric patients with Chiari malformation type I." Journal of Neurosurgery: Pediatrics 22, no. 1 (July 2018): 52–60. http://dx.doi.org/10.3171/2018.1.peds17472.
Full textAbstract:
OBJECTIVESyringobulbia (SB) is a rare entity, with few cases associated with Chiari malformation type I (CM-I) in the pediatric population. The authors reviewed all pediatric cases of CM-I–associated SB managed at their institution in order to better understand the presentation, treatment, and surgical outcomes of this condition.METHODSA prospectively maintained institutional database of craniovertebral junction abnormalities was analyzed to identify all cases of CM-I and SB from the MRI era (i.e., after 1984). The authors recorded presenting symptoms, physical examination findings, radiological findings, surgical treatment strategy, intraoperative findings, and outcomes. SB cases associated with tumors, infections, or type II Chiari malformations were excluded.RESULTSThe authors identified 326 pediatric patients with CM-I who were surgically treated. SB was identified in 13 (4%) of these 326 patients. Headache and neck pain were noted in all 13 cases. Cranial nerve abnormalities were common: vagus and glossopharyngeal nerve dysfunction was the most frequent observation. Other cranial nerves affected included the trigeminal, abducens, and hypoglossal nerves. Several patients exhibited multiple cranial nerve palsies at presentation. Central sleep apnea was present in 6 patients.Syringomyelia (SM) was present in all 13 patients. SB involved the medulla in all cases, and extended rostrally into the pons and midbrain in 2 patients; in 1 of these 2 cases the cavity extended further rostrally to the cerebrum (syringocephaly). SB communicated with the fourth ventricle in 7 of the 13 cases.All 13 patients were treated with posterior fossa decompression with intradural exploration to ensure CSF egress out of the fourth ventricle and through the foramen magnum. The foramen of Magendie was found to be occluded by an arachnoid veil in 9 cases. Follow-up evaluation revealed that SB improved before SM. Cranial nerve palsies regressed in 11 of the 13 patients, and SB improved in all 13.CONCLUSIONSThe incidence of SB in our surgical series of pediatric patients with CM-I was 4%, and all of these patients had accompanying SM. The SB cavity involved the medulla in all cases and was found to communicate with the fourth ventricle in 54% of cases. Posterior fossa decompression with intradural exploration and duraplasty is an effective treatment for these patients.
41
Wang, Doris D., Abby E. Deans, A. James Barkovich, Tarik Tihan, Nicholas M. Barbaro, Paul A. Garcia, and Edward F. Chang. "Transmantle sign in focal cortical dysplasia: a unique radiological entity with excellent prognosis for seizure control." Journal of Neurosurgery 118, no. 2 (February 2013): 337–44. http://dx.doi.org/10.3171/2012.10.jns12119.
Full textAbstract:
Object Focal cortical dysplasia (FCD) represents a spectrum of developmental cortical abnormalities and is one of the most common causes of intractable epilepsy in children and young adults. Outcomes after surgery for FCD are highly variable, and prognosticators of seizure freedom are unclear. In a subset of FCDs, a transmantle sign is observed on imaging that focally spans the entire cerebral mantle from the ventricle to the cortical surface. The aim of this study was to characterize seizure control outcomes and prognostic significance of the transmantle sign in FCD epilepsy. Methods Fourteen patients with the transmantle sign underwent epilepsy surgery for medically refractory epilepsy. Thirteen patients underwent resective surgery and 1 underwent multiple subpial transections with vagus nerve stimulator placement. Patient demographics, MRI, electroencephalography, intraoperative electrocorticography (ECoG), and pathology were reviewed. The results of this series were compared with those of 114 previously reported patients with FCD without the transmantle sign. Results All patients were found to have childhood seizure onset and concordant MRI and ECoG findings. The primary MRI findings associated with transmantle sign included gray-white junction blurring, appearance of cortical thickening, T2 or FLAIR abnormality, and bottom-of-the-sulcus dysplasia. The transmantle sign was usually a focal finding, typically confined to 1 or several gyri with well-circumscribed epileptic tissue. Correlation of the transmantle sign with FCD histopathological subtypes was highly variable. Patients who underwent complete resection of MRI and ECoG abnormalities (12 of 13 patients) became seizure free. When compared with 114 FCD patients without the transmantle sign, patients with the transmantle sign showed significantly improved seizure-free outcomes after complete resections (p = 0.04). Conclusions The presence of the transmantle sign in patients with medically refractory partial epilepsy is associated with highly favorable seizure control outcomes after surgical treatment.
42
Kuleshov, A. V., Y. A. Medrazhevskaya, and L. P. Cherepakhyna. "Study of cerebral hemodynamics in children with small anomalies of the heart development." Reports of Vinnytsia National Medical University 24, no. 3 (October 12, 2020): 404–8. http://dx.doi.org/10.31393/reports-vnmedical-2020-24(3)-06.
Full textAbstract:
Annotation. Diseases of the cardiovascular system occupy a leading place in the structure of non-infectious pathology. In the literature, small abnormalities of the development of the heart are described as abnormally located trabeculae or additional chords in the left ventricle of the heart or mitral valve prolapse. At present, the problem of cerebral hemodynamic disorders in children with them is insufficiently studied in medical sources. The aim of our study was to analyze cerebral hemodynamics using ultrasound dopplerography of cerebral vessels in children with abnormally attached chords (AAC) and mitral valve prolapse (MVP). We examined 64 children with AAC and 106 patients with MVP (among whom there were 90 with MVP I degree and 16 with MVP II degree) aged from 13 to 17 years, who formed the main group. The results were compared with the data of the control group, which included 23 almost healthy children also aged 13–17 years. All children underwent ultrasound dopplerography of extra- and intracranial vessels and veins of the brain. Evaluated the average values in the form of M±m. The values of the differences between the indicators of the two samples were evaluated by Student’s parametric criterion (t) using a special program such as Microsoft Excel. In children with MVP I deg. we found a pronounced violation of blood flow in a. vertebralis on both sides with diagnostically significant (р<0,05) decrease in the mean values of systolic and diastolic blood flow indexes. The elasticity of the vessels was high relative to the control group. In children with grade II MVP, a decrease of the blood flow was observed within a. vertebralis basin, which was accompanied by a significant (р<0,05) decrease of systolic and diastolic velocities on both sides in comparison with control group. An increase (р<0,05) in systolic-diastolic index (Sd) and circulatory resistance index (Ri) was noted in both sides, indicating a simultaneous increase in the tone and elasticity of these vessels. In patients with AAC there was a decrease in systolic and diastolic velocities in the a.vertebralis on both sides with increase of Sd relative to the control group. Thus, cerebral blood flow in children with AAC and MVP is generally satisfactory. There are changes in the elastic and tonic properties of blood vessels in these children. The results of the study will be useful to narrow specialists for timely and adequate rehabilitation of patients with MARS.
43
Tanaka, Kuniaki, Itaru Kato, Miyuki Tanaka, Daisuke Morita, Yoshiyuki Takahashi, Tatsutoshi Nakahata, Katsutsugu Umeda, et al. "Piggybac CD19 CAR T Cells Eradicate CNS Leukemia By Direct Delivery into Cerebral Ventricle of Xenograft Mice Model." Blood 132, Supplement 1 (November 29, 2018): 4028. http://dx.doi.org/10.1182/blood-2018-99-111733.
Full textAbstract:
Abstract [Introduction] Despite the improvement in the treatment for childhood acute lymphoblastic leukemia (ALL), a central nervous system (CNS) involvement is still a risk factor for mortality. Moreover, CNS-directed treatments can cause acute and late adverse complications. Therefore, more effective and less toxic treatment strategy for CNS-ALL is needed. Recent clinical trials show that the anti-CD19 chimeric antigen receptor T-cell (CAR-T) therapy have an excellent effect against refractory and relapsed ALL. In these trials, some clinical effect of systemic intravenous (i.v.) delivery of CAR-T cells against CNS-ALL were reported and these reports implied clinical possibility and necessity for optimization of CAR-T therapy against CNS-ALL. The superior effect of direct delivery of CAR-T cells into solid tumors has been published, and we and others have shown the feasibility of intrathecal (IT) donor lymphocyte infusion for CNS-ALL without severe adverse events (Yanagisawa et al, IJH 2016). These reports inspired us to apply direct CAR-T cells infusion into CNS as a new therapeutic approach against CNS-ALL. However, as the lethally neurotoxicity has been reported in CAR-T clinical trials, preclinical study is a crucial step for clinical use of IT administration of CD19 CAR-T cells. We have previously reported ALL patient-derived xenograft (PDX) model with CNS infiltration in NOD/SCID/γc Null (NOG) mouse (Kato et al, ASH 2010). With this model, we have revealed the unique characteristics of CNS infiltrated leukemic cells and proposed new strategy targeting the CNS-ALL (Kato et al, Blood, 2018). In this study, we established an isolated CNS-ALL xenograft model with the intra-cerebroventricular (i.c.v.) injection of ALL cells and tested the feasibility and safety of the i.c.v. delivery of CAR-T cells into this model. [Method] CD19 CAR-T cells were generated with the piggyBac transposon system from isolated PBMCs donated from a healthy volunteer and expanded in the presence of IL-7 and IL-15 (Morita et al, Mol Ther Methdos Clin Dev 2018). SUSR cells, BCR-ABL fusion gene positive pre-B ALL cells, were genetically engineered to express GFP-FFLuc (SUSRGFP/luc). 2×105 SUSRGFP/luc cells were injected by i.c.v. into 8-10 weeks old male NOG mice. Seven days after injection, confirming that SUSRGFP/luc cells were detected by IVIS imaging system only in CNS region, 2×106 piggyBac CD19 CAR-T cells injected by i.c.v. (CAR-T i.c.v.) (n=6), or i.v via tail-vein (CAR-T i.v) (n=5). As control groups, non-transduced T-cells from the same donor (Mock-T i.c.v.) (n=5) or vehicle (Medium i.c.v.) (n=5) were injected by i.c.v. No treatment group (n=4) received no i.c.v. injection. ALL invasion was followed by IVIS imaging. To assess the safety, we serially measured body weight, rectal temperature and scores of clinical symptoms of each mouse every morning after treatment. [Results] All mice in the Medium i.c.v. and no treatment group died by day 45. Both in the CAR-T i.v. and i.c.v. group, all mice were alive at day 45. Regardless of the route of injection, CAR-T administration prolonged the survival period. IVIS imaging revealed that 3/5 mice both in Mock-T i.c.v. and CAR-T i.v group failed to eliminate CNS-ALL at day 40. On the other hand, CAR-T i.c.v. completely eradicated ALL in all mice. Histopathological and flowcytometry analysis at day 4 after treatment also showed decrease of ALL cells and expansion of human CD3 positive T-cells in CAR-T i.c.v. mouse. Regarding clinical symptoms, weight loss, decrease in rectal temperature and elevation of clinical scores were observed only in SUSR transplanted CAR-T i.c.v. group during a few days after treatment. These changes were transient and not fatal. No neurological symptoms were observed in all mice. Histopathological analysis of CNS at day 4 showed slightly thickened epithelium of choroid plexus and edema localized around the lateral ventricle only in CAR-T i.c.v. mouse. Any other abnormalities associated neurotoxicity was not detected. [Discussion] In this preclinical study, we demonstrated that i.c.v. delivery of CD19 CAR-T cells had superior effect to i.v. delivery without any additional side effects. Our data suggests that IT administration of CD19 CAR-T cells would be an effective and feasible therapeutic approach against CNS-ALL. Disclosures No relevant conflicts of interest to declare.
44
Tibrewal, P., L. English, E. Foo, and R. S. Dhillon. "P02 - 362 - Schizencephaly and psychosis." European Psychiatry 26, S2 (March 2011): 958. http://dx.doi.org/10.1016/s0924-9338(11)72663-3.
Full textAbstract:
Schizencephaly is an uncommon congenital disorder of cerebral cortical development, defined as a gray matter-lined cleft extending from the pial surface to the ventricle. It is a neuronal migration anomaly, caused by insults to migrating neuroblasts during 3rd to 5th gestational months.Ischemia, germline mutations, intrauterine infections and exposure to drugs have been implicated in its etiology. The outcome relates with the severity of pathology. Unilateral closed lip schizencephaly has the mildest clinical picture and bilateral open lip the most severe. The most prominent manifestations are motor deficits and seizures.Schizencephaly has been related with psychosis. However, there is paucity of literature exploring this relation. Pubmed search with “Schizencephaly AND Psychotic disorders OR Bipolar Disorders” as Mesh terms resulted in 9 results. Of these four discussed Schizencephaly. Rest five reports were related to other disorders of cortical malformation. We present an interesting case of schizencephaly associated with psychosis and congenital hemiparesis. We also present a review of literature available for this rare association.This case points towards the role of neurodevelopmental abnormalities in the manifestation of psychosis and bipolar affective disorder. It indicates that presence of neurodevelopmental anomalies may have pathoplastic effects on the presentation of psychosis and may also influence treatment response adversely. A possible mechanism explaining the development of psychosis in schizencephaly is the disruption in intracortical connections. There is also a possibility of underlying ictal phenomenon leading to psychosis. The above case provides support to the neurodevelopmental theory of Schizophrenia.
45
Brouns, M. R., S. F. Matheson, K. Q. Hu, I. Delalle, V. S. Caviness, J. Silver, R. T. Bronson, and J. Settleman. "The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development." Development 127, no. 22 (November 15, 2000): 4891–903. http://dx.doi.org/10.1242/dev.127.22.4891.
Full textAbstract:
Rho GTPases direct actin rearrangements in response to a variety of extracellular signals. P190 RhoGAP (GTPase activating protein) is a potent Rho regulator that mediates integrin-dependent adhesion signaling in cultured cells. We have determined that p190 RhoGAP is specifically expressed at high levels throughout the developing nervous system. Mice lacking functional p190 RhoGAP exhibit several defects in neural development that are reminiscent of those described in mice lacking certain mediators of neural cell adhesion. The defects reflect aberrant tissue morphogenesis and include abnormalities in forebrain hemisphere fusion, ventricle shape, optic cup formation, neural tube closure, and layering of the cerebral cortex. In cells of the neural tube floor plate of p190 RhoGAP mutant mice, polymerized actin accumulates excessively, suggesting a role for p190 RhoGAP in the regulation of +Rho-mediated actin assembly within the neuroepithelium. Significantly, several of the observed tissue fusion defects seen in the mutant mice are also found in mice lacking MARCKS, the major substrate of protein kinase C (PKC), and we have found that p190 RhoGAP is also a PKC substrate in vivo. Upon either direct activation of PKC or in response to integrin engagement, p190 RhoGAP is rapidly translocated to regions of membrane ruffling, where it colocalizes with polymerized actin. Together, these results suggest that upon activation of neural adhesion molecules, the action of PKC and p190 RhoGAP leads to a modulation of Rho GTPase activity to direct several actin-dependent morphogenetic processes required for normal neural development.
46
Hodshon, Amy W., Jill Narak, Linden E. Craig, and Andrea Matthews. "Surgical Treatment of a Chronic Brain Abscess and Growing Skull Fracture in a Dog." Case Reports in Veterinary Medicine 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/372608.
Full textAbstract:
A 2-year-old female spayed Miniature Dachshund was presented for seizures and right prosencephalic signs. A multiloculated, ring-enhancing mass in the right cerebrum associated with dilation of the right lateral ventricle and brain herniation was seen on magnetic resonance imaging. An irregular calvarial defect with smoothly scalloped edges was seen overlying the mass on computed tomography. The mass was removed via craniectomy and was diagnosed as a chronic brain abscess caused byPeptostreptococcus anaerobius. The patient was maintained on antibiotics for 12 weeks. Follow-up MRI performed 14 weeks after surgery confirmed complete removal of the abscess as well as a contrast-enhancing collection of extra-axial material consistent with a chronic subdural hematoma. The neurologic abnormalities, including seizures, have improved in the 44 months since surgery. Brain abscesses in dogs can have an insidious clinical course prior to causing serious neurologic deterioration. Ventricular entrapment by an intracranial mass can contribute to acute neurologic decline. If surgically accessible, outcome following removal of a brain abscess can be excellent; aerobic and anaerobic bacterial culture should be performed in these cases. Subdural hematoma can occur following removal of a large intracranial mass. Growing skull fractures can occur in dogs but may not require specific surgical considerations.
47
Zhang, Q. L., L. Jia, X. Jiao, W. L. Guo, J. W. Ji, H. L. Yang, and Q. Niu. "APP/PS1 Transgenic Mice Treated with Aluminum: An Update of Alzheimer's Disease Model." International Journal of Immunopathology and Pharmacology 25, no. 1 (January 2012): 49–58. http://dx.doi.org/10.1177/039463201202500107.
Full textAbstract:
There is still no animal model available that can mimic all the cognitive, behavioral, biochemical, and histopathological abnormalities observed in patients with Alzheimer's disease (AD). We undertook to consider the interaction between genetic factors, including amyloid precursor protein (APP) and presenilin-1 (PS1), and environmental factors, such as Aluminum (Al) in determining susceptibility outcomes when studying the pathogenesis of AD. In this article, we provide an AD model in APP/PS1 transgenic mice triggered by Al. The animal model was established via intracerebral ventricular microinjection of aluminum chloride once a day for 5 days in APP/PS1 transgenic mice. Twenty wild type (WT) mice and 20 APP/PS1 transgenic (TG) mice were separately divided into 2 groups (control and Al group), and a stainless steel injector with stopper was used for microinjection into the left-lateral cerebral ventricle of each mouse. The Morris water maze task was used to evaluate behavioral function of learning and memory ability on the 20th day after the last injection. This AD model's brain was analyzed by: (1) amyloid β immunohistochemical staining; (2) Tunnel staining; (3) apoptotic rates; (4) caspase-3 gene expression. Here, decrease of cognitive ability and neural cells loss were shown in APP/PS1 transgenic mice exposed to Al, which were more extensive than those in APP/PS1 TG alone and WT mice exposed to Al alone. These findings indicate that there is a close relationship between over-expression of APP and PS1 genes and Al overload. It is also suggested that APP/PS1 TG mice exposed to Al have potential value for improving AD models.
48
De la Cerda-Vargas, María F., B. A. Sandoval-Bonilla, James M. McCarty, Fernando Chico-Ponce De León, José A. Candelas-Rangel, Jorge D. Rodríguez-Rodríguez, Pedro Navarro-Domínguez, et al. "Hydrocephalus in Mexican children with Coccidioidal Meningitis: Clinical, serological, and neuroimaging findings." Surgical Neurology International 12 (March 24, 2021): 119. http://dx.doi.org/10.25259/sni_895_2020.
Full textAbstract:
Background: Coccidioidal meningitis (CM) is a fungal infectious disease that rarely affects children. Even in endemic areas, coccidiomycosis rarely affects the pediatric population. However, 40% of affected children develop hydrocephalus. Here, we describe the clinical, serological, and neuroimaging findings in a series of Mexican children admitted to our neurosurgical service with hydrocephalus and subsequently diagnosed with CM. Methods: We report a prospective series of pediatric patients with hydrocephalus secondary to CM in an endemic area at the north of Mexico. Our report includes children with CM who were hospitalized from 2015 to 2019 in a regional hospital in Torreón, Coahuila. Clinical evolution was monitored for 1 year after hospital discharge. Results: Our series include five children with CM (2–17-years-old, three female), who were hospitalized for hydrocephalus and developed intracranial hypertension. The most frequent neuroimaging findings were leptomeningeal enhancement (5/5) and basal arachnoiditis (4/5), followed by asymmetric hydrocephalus (3/5), abnormalities in fourth ventricle morphology (3/5), and cerebral vasculitis (2/5). CM was diagnosed by positive serology or pathology studies. All children were initially managed with fluconazole and a shunt was placed for management of hydrocephalus. Four patients recovered without permanent neurological deficits and one subject developed persistent vegetative state. One year after hospital discharge, none of the subjects died. Conclusion: This series contributes to the limited number of pediatric CM cases reported in the literature, and describes neuroimaging findings in the pediatric population. The cases here presented show that the identification of Coccidioides as causal agent in pediatric meningitis is crucial for targeted treatment and can affect dramatically neurological prognosis. Furthermore, our report stresses that even in endemic areas pediatric coccidiomycosis represents a diagnostic challenge, which is further exacerbated by the limited availability of resources in these regions. Therefore, a positive immunoglobulin G by enzyme immunoassay is enough for diagnosis of CM in endemic areas without access to CF.
49
Castillo, Michelle, Emily Ott, Robert Wujek, Liu Qiuli, Kathleen Schmainda, Susan Cohen, and Rashmi Sood. "Genetic Absence of Integrin alpha2b Improves Survival of Tissue Factor Pathway Inhibitor Null Mice but Results in Hydrocephalus Formation." Blood 134, Supplement_1 (November 13, 2019): 3626. http://dx.doi.org/10.1182/blood-2019-131811.
Full textAbstract:
Introduction: Genetic deletion of Tissue Factor Pathway Inhibitor (TFPI) exon 4, encoding its Kunitz 1 (K1) domain, results in complete intrauterine lethality (PMID 9242522). TFPI K1 null mice (Tfpi-/-) are born live if Tissue Factor expression is reduced or in the complete absence of Protease Activated Receptor-4 (Par4), and these exhibit a normal life span without overt signs of thrombosis (PMID 15598816, 25954015). Based on these data, it has been postulated that modulation of thrombin-dependent platelet activation by TFPI is essential for survival. Platelet activation results in a number of downstream events. Of these, platelet aggregation via the integrin receptor αIIbβ3 is considered to have a key role in hemostasis and could participate in thrombotic pathology in the absence of TFPI. Binding of αIIbβ3 to its ligands also mediates critical interactions of platelets with endothelial cells, leukocytes and other cell types. In this work, we have investigated whether modulation of platelet activity via genetic absence of integrin receptor αIIbβ3 confers protection and allows generation of adult Tfpi-/- mice. Methods: Tfpi+/- αIIb-/- mice were generated by breeding Tfpi+/- and integrin αIIb-/- mice and identified by PCR-based genotyping of tissues obtained by tail biopsies. Tfpi+/- αIIb-/- intercrosses served as the experimental cross. Pups were genotyped at the time of wean, around 4 weeks of age. In some experiments, surgeries were performed to analyze pregnancies at 18.5 days post coitum (dpc). Embryos and placentae were observed under the dissecting microscope and any phenotypic abnormalities were noted. Presence of heart beats and limb movements were used to identify live embryos. Embryos and placentae were fixed in zinc-formalin and embedded in paraffin for sectioning and histological analysis. T1 weighted Magnetic Resonance Images were acquired on a 9.4T scanner to measure cerebral ventricle sizes of Tfpi-/- αIIb-/- and littermate control mice. Ventricular regions of interest (ROI) were drawn on each image slice from which total ventricular volume was computed. These mice were later perfused with 4% paraformaldehyde for collection of organs and histological analysis. Results: We analyzed 122 pups from intercrosses of Tfpi+/- αIIb-/- mice and observed a genetic distribution 39 Tfpi+/+, 77 Tfpi+/- and 6 Tfpi-/- (25% or 31 Tfpi-/- were expected, 5% observed, 95% CI 1.8 to 10.4%). Thus, genetic absence of αIIb results in incomplete rescue of Tfpi-/- mice (P< 0.000002, Χ2 GOF) with only ~20% surviving past embryonic development to 4 weeks of age. These data contrast with 40% Tfpi-/- offspring surviving in the absence of Par4 (Tfpi+/- Par4-/- intercrosses: 23 Tfpi+/+, 39 Tfpi+/- and 8 Tfpi-/-; PMID 25954015). Thus, the absence of αIIb is much less effective than the absence of Par4 in allowing early survival of TFPI null mice (P < 1.9E-09; Χ2 test of independence). We compared survival of Tfpi-/- αIIb-/- offspring close to term of pregnancy (18.5 dpc) and at 4 weeks of age. TFPI null embryos were found at reduced frequency at 18.5 dpc (12 Tfpi+/+, 21 Tfpi+/- and 5 Tfpi-/-; 25% Tfpi-/- expected, 13% observed, 95% CI 4.4 to 28.1%), but even fewer survived the trauma of birth (P<0.0004, Χ2 test of independence). Of the 6 Tfpi-/- αIIb-/- pups found at 4 weeks of age, 3 died by 9 weeks of age. Dome shaped heads indicative of hydrocephalus or histological evidence of hydrocephalus was noted in the pups that died. Surviving mice were observed for 7 months to 1 year of age and imaged with MRI. Comparison of ventricular volumes between Tfpi-/- mice and Tfpi+/- controls demonstrated a higher volume in Tfpi-/- mice (39.3 ± 18.3 versus 5.3 ± 2.2 mm3; P=0.08). Both Tfpi-/- and Tfpi+/- mice were αIIb-/- in this experiment. Thus, αIIb in not involved in hydrocephalus formation. Hydrocephalus formation in Tfpi-/- mice was confirmed through serial histological sections of the brain (Figure 1). Conclusions: Our data demonstrates that genetic absence of αIIb improves survival of TFPI null mice, but to a much lesser extent than the genetic absence of Par4. Thus, the critical role of Par4 in the demise of TFPI null mice is unlikely to be primarily through excessive platelet aggregation. We further show that TFPI null pups exhibit varying degrees of hydrocephalus formation. While the mechanism of hydrocephalus formation in the absence of TFPI remains unclear, our results demonstrate a critical role of TFPI in the brain. Disclosures No relevant conflicts of interest to declare.
50
Tojino, AL, R. Laymouna, A. Monteiro, A. Velcea, L. Almeida Morais, N. Enzan, TL Wang, et al. "Clinical Case Poster session 2P608Infective endocarditis in an adult female with bicuspid aortic valve, hypertrophic cardiomyopathy and amyopathic dermatomyositisP609Left ventricular massP610A rare case of mitral stenosis - Shones syndromeP611The added value of three-dimensional echocardiography in the late diagnosis of a pacemaker complication in a patient with severe congestive heart failureP612Percutaneous paravalvular leak closure - procedure pitfallsP613A case of late left ventricular pseudoaneurysm after aortic valve replacement for infective endocarditis.P614Pseudoaneurysm of right ventricle and acute heart failure caused by prosthetic aortic valve endocarditisP615A misclassification of pulmonary stenosis severity during pregnancyP616A problematic case of left ventricular hypertrophyP617High variability of dynamic obstruction in a patient with hypertrophic obstructive cardiomyopathy and tako-tsubo-cardiomyopathyP618Arterio-venous pulmonary fistula in patient after cerebral strokeP619Rapid myocardial calcification in acute sepsisP620Acute right heart failure after delivery in patient with new-diagnosed pulmonary arterial hypertensionP621When the right ventricle plays hide-and-seekP622Adult congenital heart disease: when what grows wrong goes wrongP623Prenatal diagnosis of mixed type total anomalous pulmonary venous connection in aspleniaP624Uncorrected single ventricle in an adult patient: do coexisting valvular abnormalities matter?P625Ventricular septal aneurysm associated with bicuspid aorta: a case report." European Heart Journal – Cardiovascular Imaging 17, suppl 2 (December 2016): ii114—ii121. http://dx.doi.org/10.1093/ehjci/jew249.
Full text