Relevant bibliographies by topics / Myelin sheath Diseases Diagnosis

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Myelin sheath Diseases Diagnosis'

Author: Grafiati
Published: 4 June 2021
Last updated: 30 January 2023

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Journal articles on the topic "Myelin sheath Diseases Diagnosis"

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Maegawa, Gustavo H. B. "Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities." Journal of Child Neurology 34, no. 6 (February 13, 2019): 339–58. http://dx.doi.org/10.1177/0883073819828587.

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The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath. The myelin is a complex sheath composed of several macromolecules covering axons as an insulator. Each of the leukodystrophies is caused by mutations in genes encoding enzymes that are involved in myelin production and maintenance. The lysosomal storage diseases are inborn disorders of compartmentalized cellular organelles with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosome
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Velichko, Ivan A., and Marina A. Barabanova. "GUILLAIN — BARRÉ SYNDROME AS A RELEVANT ISSUE OF NEUROLOGY (A LITERATURE REVIEW)." Kuban Scientific Medical Bulletin 26, no. 2 (May 17, 2019): 150–61. http://dx.doi.org/10.25207/1608-6228-2019-26-2-150-161.

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Acute infl ammatory polyneuropathy is an important research problem of modern neurology. Guillain — Barré syndrome is a severe form of acute polyneuropathy, which is based on autoimmune infl ammation of the myelin sheath of roots and peripheral nerves. Guillain — Barré syndrome is an example of one of the most severe diseases of the nervous system, in which timely diagnosis, proper therapy and qualifi ed care facilitate the achievement of the full recovery of lost functions in most patients. Following an extensive review of Russian and foreign literature, this article discusses modern concepts
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Popovich, Sofia G., Lyudmila M. Kuzenkova, Olga B. Kondakova, Alexey I. Firumyants, Tatyana V. Podkletnova, and Eugeniya V. Uvakina. "A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood." L.O. Badalyan Neurological Journal 3, no. 3 (September 30, 2022): 122–26. http://dx.doi.org/10.46563/2686-8997-2022-3-3-122-126.

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Leukodystrophies are a group of hereditary progressive diseases of the central nervous system characterized by selective lesions in white matter with specific involvement of glial cells. There are hypomyelinating (absence of myelin deposition), demyelinating (loss of previously deposited myelin), dysmyelinating (deposition of structurally or biochemically abnormal myelin), and myelinolytic leukodystrophies (myelin vacuolization). Hypomyelinating leukodystrophies (HL), like most leukodystrophies, debut in childhood or adolescence and are characterized by a progressive course of the disease. HL
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Zhang, Juan, Zhu Chen, Hui Chen, Yan Deng, Song Li, and Lian Jin. "Recent Advances in the Roles of MicroRNA and MicroRNA-Based Diagnosis in Neurodegenerative Diseases." Biosensors 12, no. 12 (November 24, 2022): 1074. http://dx.doi.org/10.3390/bios12121074.

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Neurodegenerative diseases manifest as progressive loss of neuronal structures and their myelin sheaths and lead to substantial morbidity and mortality, especially in the elderly. Despite extensive research, there are few effective treatment options for the diseases. MicroRNAs have been shown to be involved in the developmental processes of the central nervous system. Mounting evidence suggest they play an important role in the development of neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease. However, there are few reviews regarding the roles of miRNAs in neurodege
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Livak, P. E., O. S. Korchuk, and N. P. Kozhukh. "Physical rehabilitation and recovery in neurological diseases." Shidnoevropejskij zurnal vnutrisnoi ta simejnoi medicini 2022, no. 2 (2022): 77–80. http://dx.doi.org/10.15407/internalmed2022.02.077.

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The author proved that the problem of neurological diseases is relevant despite the high development of medicine, because in conditions of stress, constant fatigue and poor ecology, we see the growth of patients with nervous disorders. Every year, more and more people of all ages turn to doctors with symptoms that indicate complex neurological diseases. Neurology includes a large number of diseases that can occur after viral diseases or due to improper lifestyle. The most common neurological diseases that cause a large number of deaths in Ukraine are Alzheimer’s disease, Parkinson’s disease, a
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Pourakbari, Hakimeh, Yashar Sarbaz, Jalal Parvin, and Mohammad Hossein Vojudi. "Proper Features Extraction from the Multiple Sclerosis Disease Postural Disorders for Decision Support System Definition." Applied Mechanics and Materials 666 (October 2014): 230–34. http://dx.doi.org/10.4028/www.scientific.net/amm.666.230.

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Multiple Sclerosis (MS) is one of the most common neurological diseases that it is often progressive and disabling. Its main cause is destruction of myelin sheaths by the immune system. Myelin damage seriously affects people’s physical activities, such as postural impairments. Early detection of the disease is very important in disease management. Unfortunately, currently there is no definite test for MS diagnosis. Of course, there are some tests that help to confirm the diagnosis in advanced stages of the disease butnone of them can independently confirm the disease and have some restrictions
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Stamate, Iulia Georgiana, Daniel Alexa, Bogdan Ignat, and Cristian Dinu Popescu. "Ankylosing spondylitis and multiple sclerosis: a surprising parallel." Romanian Journal of Neurology 13, no. 3 (September 30, 2014): 93–102. http://dx.doi.org/10.37897/rjn.2014.3.1.

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Ankylosing Spondylitis (AS) and Multiple Sclerosis (MS) are two different chronic autoimmune and inflammatory diseases, one rheumatic and the other one neurological, apparently without any connection between them. Yet a few case reports proved that AS may be associated with MS and this situation should be considered in some epidemiological environment. Although the geographic map of incidence is approximately superposed for both entities there are only a few cases of association. Recent studies revealed that most loci associated with MS are located very close to or even within genes encoding m
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Fedorova, V. S., A. G. Smochilin, A. I. Kulyakhtin, A. A. Yakovlev, M. S. Pushkaryov, A. V. Gavrichenko, E. A. Gavrilova, and R. A. Gapeshin. "Charcot - Marie - Toots disease: description of 2 clinical cases of the disease in members of the same family (father and daughter)." Scientific Notes of the Pavlov University 27, no. 2 (September 25, 2020): 63–71. http://dx.doi.org/10.24884/1607-4181-2020-27-2-63-71.

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Charcot — Marie — Tooth disease belongs to a genetically heterogeneous group of monogenic diseases with a predominant lesion of the peripheral nervous system associated with predominant degeneration of the myelin sheath and/or axon of the motor and sensory nerves and spinal roots, accompanied by motor disorders and specific pain syndrome. The article presents a description of 2 clinical cases of patients (father and daughter), whose disease was manifested by chronically progressive weakness and atrophy of the distal limb muscles, reflexes reduction, foot and hand deformation, gait changes and
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Victor, Praznikov. "Diagnosis and Treatment of Alzheimers Disease and Parkinsons Disease with Resonance Medicine." Journal of Biomedical Research & Environmental Sciences 3, no. 9 (October 2022): 1000–1006. http://dx.doi.org/10.37871/jbres1544.

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Parkinson Disease (PD) is a degenerative disease of the extrapyramidal motor system. The formations of the midbrain are affected and are expressed in 1. Tremor, 2. Hypokinesia, 3. Muscle rigidity, 4. Postural instability. Alzheimer's Disease (AD) is a progressive form of senile dementia, leading to a complete loss of cognitive abilities, developing mainly after 60-65 years of age. With these diseases, a large number of brain structures degenerate, including demyelinating brain processes. Both diseases are considered incurable. This article presents materials for the effective treatment of dise
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Рушкевич, Ю. Н., С. А. Лихачев, Л. В. Костоправова, Д. В. Науменко, Т. Г. Гвищ, and С. Г. Клюнчик. "Clinical Observation of a Combination of Neurofibromatosis Type I and Multiple Sclerosis." Неврология и нейрохирургия. Восточная Европа, no. 1 (April 29, 2020): 127–38. http://dx.doi.org/10.34883/pi.2020.10.1.051.

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В статье изложено описание клинического наблюдения пациента с сочетанием нейрофиброматоза I типа и рассеянного склероза. Наличие этих двух заболеваний у одного и того же пациента встречается крайне редко. Ни одно из клинических проявлений нейрофиброматоза I типа, являющегося генетически детерминированным заболеванием, не связано с демиелинизацией, в то время как центральным звеном в патогенезе рассеянного склероза является разрушение миелиновой оболочки аксонов центральной нервной системы. Проводился детальный анализ течения болезни пациентки с указанием развившихся осложнений. Для визуальной
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Dissertations / Theses on the topic "Myelin sheath Diseases Diagnosis"

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Cai, Zhao. "A technique for examining longitudinal and cross sections of teased nerve fibres and its application to human and experimental neuropathy." Title page, contents and summary only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phc1326.pdf.

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Includes bibliographical references (leaves 194-225) A new method is described that enables longitudinal and cross sections of an individual nerve fibre to be cut at multiple specified sites along the fibre by use of an unique marker system. The method is particularly useful for the correlative study of myelin-axon relationships
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Vana, Adam C. "The oligodendrocyte progenitor response to demyelination /." Download the dissertation in PDF, 2006. http://www.lrc.usuhs.mil/dissertations/pdf/vana2006.pdf.

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Sirisi, Dolcet Sònia. "Bases moleculars de la Leucoeocefalopatia Megalencefàllca amb Quists subcorlicals. Utilització de models animals i cel·lulars." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/284761.

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La Leucoencefalopatia Megalencefàlica amb quists subcorticals, també anomenada MLC, és un tipus rar de leucodistròfia vacuolitzant. Actualment encara es desconeix el mecanisme fisiopatològic de la malaltia, i per tant ni hi ha cap tractament possible per als pacients. S’han descrit dos gens implicats en la malaltia MLC. El primer gen descobert s’anomena MLC1 i codifica per una proteïna de membrana que porta el mateix nom. El segon gen s’anomena GLIALCAM i codifica per una proteïna transmembrana de tipus I que també porta el mateix nom. S’ha decrit que la proteïna GlialCAM actua com a subunit
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Arnedo, Llena Tanit. "Paper del canal de clorur CIC-2 en les patologies de la mielina." Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/310220.

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La Leucoencefalopatia Megalencefàlica amb Quists subcorticals (MLC) és un tipus rar de leucodistròfia vacuolitzant de progressió lenta, que presenta com a principals característiques clíniques macrocefàlia acusada durant els primers anys de vida, deteriorament de les funcions motores, epilèpsia i retard mental de grau mig. Actualment encara es desconeix el mecanisme fisiopatològic de la malaltia, i per tant ni hi ha cap tractament possible per als pacients. S’han descrit dos gens implicats en la malaltia MLC. El primer gen descobert s’anomena MLC1 i codifica per una proteïna de membrana que po
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Santos, Vives Alicia. "Estudio neuropsicológico, neurorradiológico y clínico en el hipercortisolismo endógeno = Neuropsychological, neuroradiological and clinical study in endogenous hypercortisolism." Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/384710.

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Endogenous Cushing’s syndrome is a rare disease due to an excess of circulating cortisol. Chronic cortisol excess can lead to different comorbidities which may persist after biochemical cure, including brain volume decrease, neuropsychological impairment, mood disorders and high cardiovascular risk. This PhD thesis aims to study some of the effects of Cushing’s syndrome on the brain, and its relationship to other clinical parameters. More specifically, the aims of this thesis include analyzing cerebellar volume in patients with Cushing’s syndrome and establishing associations with neuropsy
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Cai, Zhao. "A technique for examining longitudinal and cross sections of teased nerve fibres and its application to human and experimental neuropathy / a thesis submitted by Zhao Cai." Thesis, 2002. http://hdl.handle.net/2440/21761.

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Includes bibliographical references (leaves 194-225)<br>ix, 225, vii leaves : ill. (some col.) ; 30 cm.<br>A new method is described that enables longitudinal and cross sections of an individual nerve fibre to be cut at multiple specified sites along the fibre by use of an unique marker system. The method is particularly useful for the correlative study of myelin-axon relationships<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Medicine, 2002
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Books on the topic "Myelin sheath Diseases Diagnosis"

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J, Valk, and Valk J, eds. Magnetic resonance of myelin, myelination, and myelin disorders. 2nd ed. Berlin: Springer, 1995.

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Knaap, Marjo S. van der., ed. Magnetic resonance of myelin, myelination, and myelin disorders. Berlin: Springer-Verlag, 1989.

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Marjo S. van der Knaap. Magnetic resonance of myelination and myelin disorders. 3rd ed. Berlin: Springer, 2005.

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NATO Advanced Research Workshop on a Multidisciplinary Approach to Myelin Diseases (1986 Rome, Italy). A multidisciplinary approach to myelin diseases. New York: Plenum Press, 1987.

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D, Duncan I., Skoff R. P, Colman D, and New York Academy of Sciences., eds. Myelination and dysmyelination. New York, N.Y: New York Academy of Sciences, 1990.

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Ay-ming, Wang, ed. Pediatric cranial MRI: An atlas of normal development. New York: Springer-Verlag, 1994.

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J, Vinken P., and Koetsier Johan C, eds. Demyelinating diseases. Amsterdam: Elsevier Science Publishers, 1985.

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Satellite Symposium on Myelination and Demyelination: Implications for Multiple Sclerosis (1987 Vancouver, B.C.). Myelination and demyelination: Implications for multiple sclerosis. New York: Plenum Press, 1989.

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(Susanne), Pitz S., and SpringerLink (Online service), eds. Primary Optic Nerve Sheath Meningioma. Berlin, Heidelberg: Springer-Verlag, 2008.

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Valk, Jacob, and Marjo S. van der Knaap. Magnetic Resonance of Myelin, Myelination and Myelin Disorders. Springer London, Limited, 2013.

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Book chapters on the topic "Myelin sheath Diseases Diagnosis"

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Zalc, B., M. Monge, and C. Jacque. "Oligodendroglial Emergence and Deposition of Four Major Myelin Constituents in the Myelin Sheath During Development: An in Vivo Study." In A Multidisciplinary Approach to Myelin Diseases, 77–85. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4757-0354-2_6.

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Singh, Ashok Kumar, and J. N. Srivastava. "Sheath Blight Disease of Paddy and Their Management." In Recent Advances in the Diagnosis and Management of Plant Diseases, 91–99. New Delhi: Springer India, 2015. http://dx.doi.org/10.1007/978-81-322-2571-3_9.

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Lassmann, Hans, Raymond A. Sobel, and Danielle Seilhean. "Multiple Sclerosis and Related Inflammatory Demyelinating Diseases." In Escourolle and Poirier's Manual of Basic Neuropathology, 161–72. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199929054.003.0007.

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This chapter describes and illustrates the morphologic changes observed in inflammatory demyelinating diseases. These are defined by the selective destruction of myelin sheaths and oligodendrocytes, arising in a background of acute or chronic inflammation. The spectrum of inflammatory demyelinating diseases includes multiple sclerosis, acute disseminated encephalomyelitis, Balo concentric sclerosis, and neuromyelitis optica. The etiology and pathogenesis of the diseases are discussed and criteria for the diagnosis of inflammatory demyelinating diseases on brain biopsies are provided.
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Acosta, Maria T. "Neurofibromatosis Type 1: Cognitive and Behavioral Phenotype: Diagnosis and Treatment." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0045.

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Neurofibromatosis type 1 (Nf1) is a neurocutaneous disorder with a prevalence of approximately 1 in 2,500–3,500 individuals (Ferner et al. 2007). The physical manifestations of Nf1, such as café au lait spots, axillary freckling, iris hamartomas (Lisch nodules), osseous lesions (sphenoid wing dysplasia, pseudoarthrosis), and benign as well as malignant neural tumors (neurofibromas, optic gliomas), are well recognized (Castle et al. 2003; Ferner et al. 2007). National Institutes of Health (NIH) criteria are currently used for clinical diagnosis (1988) (Table 31.1). The clinical severity of this disorder is quite variable, and approximately 20% of children with Nf1 will later have considerable physical complications (Castle et al. 2003; Ferner et al. 2007; Williams et al. 2009). Other clinical manifestations are abnormalities of the cardiovascular, gastrointestinal, renal, and endocrine systems, facial and body disfigurement, cognitive deficit, and malignancies of the peripheral nerve sheath and central nervous system. The tumors that occur in Nf1 are dermal and plexiform neurofibromas, optic gliomas, malignant peripheral nerve sheath tumors (MPNSTs), pheochromocytomas, and rhabdomyosarcomas (Castle et al. 2003). Children with Nf1 have an increased risk of developing myeloid disease, particularly juvenile chronic myeloid leukemia. Some 30%–40% of Nf1 patients develop plexiform neurofibromas (Szudek, Evans, and Friedman 2003). Malignant peripheral nerve sheath tumors are present in 5%–10% of cases (Evans et al. 2002), often in preexisting plexiform neurofibromas (Castle et al. 2003). Although many see the predisposition to cancer as the major concern regarding Nf1, some of the more prevalent features are not directly related to tumors (Acosta, Gioia, and Silva 2006). Cognitive dysfunction, academic difficulties, and school failure, occur in 40%–80% (Hyman, Arthur, and North 2006; Krab et al. 2008; North et al. 1997). These complications affect the day-to-day life of these children, and are the largest cause of lifetime morbidity in the pediatric Nf1 population (Acosta et al. 2006). These deficits impact on long-term adaptation to society (Acosta et al. 2006; Barton and North 2007; Krab et al. 2008; Krab et al. 2009).
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Doğan, Serhat, Selim Sözen, Burhan Hakan Kanat, Gökhan Söğütlü, Mehmet Gençtürk, and Hasan Erdem. "Rectus Sheath Hematoma." In Trauma and Emergency Surgery. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.101438.

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A hematoma is a collection of blood in an extravascular space and is named according to its location. Rectus sheath hematoma (RSH) was first described by Hippocrates and Galen about 25 centuries ago due to abdominal trauma, which is a rare cause of acute abdomen. It is uncommon, which may lead to delayed diagnosis in patients with acute abdomen. This condition arises due to trauma or hypertension in patients with bleeding disorders, using anticoagulants, doing heavy physical exercise, pregnant women, connective tissue diseases, and hematological diseases. The diagnosis can be made by detailed anamnesis, physical examination, ultrasonography, and contrast-enhanced abdominal tomography. For a accurate diagnosis, first of all, the medical history of these patients should be carefully questioned. CT and ultrasonography (USG) are used in the diagnosis of this condition. In many patients, conservative treatment by eliminating the predisposing factor is sufficient. In conclusion, with the increase in use of anticoagulation, the incidence of RSH is expected to increase. Every physician in the surgical field should keep rectus sheath hematoma at the top of the differential diagnosis list in patients presenting with acute abdominal pain and palpable abdominal mass.
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Tobin, W. Oliver. "Diagnosis of Multiple Sclerosis." In Mayo Clinic Neurology Board Review, edited by Kelly D. Flemming, 540–47. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780197512166.003.0065.

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Multiple sclerosis is the most common idiopathic inflammatory demyelinating disease of the central nervous system (CNS), with a prevalence of 1 in 500 to 1 in 2,000 people, depending on geography and various other factors. Idiopathic inflammatory demyelinating diseases are a group of related disorders that include acute disseminated encephalomyelitis, neuromyelitis optica spectrum disorder, and myelin oligodendrocyte glycoprotein–immunoglobulin G–associated CNS demyelinating disease.
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SCHRAMME, M. "Diseases of the Digital Synovial Sheath, Palmar Annular Ligament, and Digital Annular Ligaments." In Diagnosis and Management of Lameness in the Horse, 674–84. Elsevier, 2003. http://dx.doi.org/10.1016/b978-0-7216-8342-3.50082-6.

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Schramme, Michael C., and Roger K. W. Smith. "Diseases of the Digital Flexor Tendon Sheath, Palmar Annular Ligament, and Digital Annular Ligaments." In Diagnosis and Management of Lameness in the Horse, 764–76. Elsevier, 2011. http://dx.doi.org/10.1016/b978-1-4160-6069-7.00074-2.

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Zhou, Xin-Gen, Dongyan Zhang, and Fenfang Lin. "UAV Remote Sensing: An Innovative Tool for Detection and Management of Rice Diseases." In Diagnostics of Plant Diseases [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95535.

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Unmanned aerial vehicle (UAV) remote sensing is a new alternative to traditional diagnosis and detection of rice diseases by visual symptoms, providing quick, accurate and large coverage disease detection. UAV remote sensing offers an unprecedented spectral, spatial, and temporal resolution that can distinguish diseased plant tissue from healthy tissue based on the characteristics of disease symptoms. Research has been conducted on using RGB sensor, multispectral sensor, and hyperspectral sensor for successful detection and quantification of sheath blight (Rhizoctonia solani), using multispectral sensor to accurately detect narrow brown leaf spot (Cercospora janseana), and using infrared thermal sensor for detecting the occurrence of rice blast (Magnaporthe oryzae). UAV can also be used for aerial application, and UAV spraying has become a new means for control of rice sheath blight and other crop diseases in many countries, especially China and Japan. UAV spraying can operate at low altitudes and various speeds, making it suitable for situations where arial and ground applications are unavailable or infeasible and where precision applications are needed. Along with advances in digitalization and artificial intelligence for precision application across fertilizer, pest and crop management needs, this UAV technology will become a core tool in a farmer’s precision equipment mix in the future.
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Conference papers on the topic "Myelin sheath Diseases Diagnosis"

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Coelho, Elton Marcio Marques, Mônica Cardoso do Amaral, João Mário Abrantes Aguiar Dourado, and Carla Jamile Jabar Menezes. "Clinical-epidemiological profile of patients hospitalized with Multiple Sclerosis in the state of Sao Paulo." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.541.

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Introduction: Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system that consists of the development of autoantibodies against the myelin sheath in neuronal axons causing demyelinating inflammatory sites. It is a disease currently incurable. Objectives: The objective was to describe the epidemiological clinical profile of patients hospitalized with MS in the State of São Paulo, in the period from 2011 to 2021. Methods: This is an epidemiological, descriptive and retrospective study, with quantitative analysis, whose source of data was the Information System for Notifia
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Coelho, Elton Marcio Marques, Mônica Cardoso do Amaral, João Mário Abrantes Aguiar Dourado, and Carla Jamile Jabar Menezes. "Clinical-epidemiological profile of patients hospitalized with Multiple Sclerosis in the state of Sao Paulo." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.549.

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Introduction: Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system that consists of the development of autoantibodies against the myelin sheath in neuronal axons causing demyelinating inflammatory sites. It is a disease currently incurable. Objectives: The objective was to describe the epidemiological clinical profile of patients hospitalized with MS in the State of São Paulo, in the period from 2011 to 2021. Methods: This is an epidemiological, descriptive and retrospective study, with quantitative analysis, whose source of data was the Information System for Notifia
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Rocha, Isadora Souza, Paola Nabhan Leonel dos Santos, João Guilherme Bochnia Küster, Maria Angélica Vieira Lizama, Vinícius Riegel Giugno, Hélio Afonso Ghizoni Teive, and Salmo Raskin. "Pelizaeus-Merzbacher Disease with Novel Variant: Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.672.

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Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are asso
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