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Chen, Hongyu, Zaihao Wang, Chunmei Lu, et al. "Neonatal Seizure Detection Using a Wearable Multi-Sensor System." Bioengineering 10, no. 6 (2023): 658. http://dx.doi.org/10.3390/bioengineering10060658.
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Neonatal seizure is an important clinical symptom of brain dysfunction, which is more common in infancy than in childhood. At present, video electroencephalogram (VEEG) technology is widely used in clinical practice. However, video electroencephalogram technology has several disadvantages. For example, the wires connecting the medical instruments may interfere with the infant’s movement and the gel patch electrode or disk electrode commonly used to monitor EEG may cause skin allergies or even tears. For the above reasons, we developed a wearable multi-sensor platform for newborns to collect physiological and movement signals. In this study, we designed a second-generation multi-sensor platform and developed an automatic detection algorithm for neonatal seizures based on ECG, respiration and acceleration. Data for 38 neonates were recorded at the Children’s Hospital of Fudan University in Shanghai. The total recording time was approximately 300 h. Four of the patients had seizures during data collection. The total recording time for the four patients was approximately 34 h, with 30 seizure episodes recorded. These data were evaluated by the algorithm. To evaluate the effectiveness of combining ECG, respiration and movement, we compared the performance of three types of seizure detectors. The first detector included features from ECG, respiration and acceleration records; the second detector incorporated features based on respiratory movement from respiration and acceleration records; and the third detector used only ECG-based features from ECG records. Our study illustrated that, compared with the detector utilizing individual modal features, multi-modal feature detectors could achieve favorable overall performance, reduce false alarm rates and give higher F-measures.
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Ansari, Amir H., Perumpillichira J. Cherian, Alexander Caicedo, Gunnar Naulaers, Maarten De Vos, and Sabine Van Huffel. "Neonatal Seizure Detection Using Deep Convolutional Neural Networks." International Journal of Neural Systems 29, no. 04 (2019): 1850011. http://dx.doi.org/10.1142/s0129065718500119.
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Identifying a core set of features is one of the most important steps in the development of an automated seizure detector. In most of the published studies describing features and seizure classifiers, the features were hand-engineered, which may not be optimal. The main goal of the present paper is using deep convolutional neural networks (CNNs) and random forest to automatically optimize feature selection and classification. The input of the proposed classifier is raw multi-channel EEG and the output is the class label: seizure/nonseizure. By training this network, the required features are optimized, while fitting a nonlinear classifier on the features. After training the network with EEG recordings of 26 neonates, five end layers performing the classification were replaced with a random forest classifier in order to improve the performance. This resulted in a false alarm rate of 0.9 per hour and seizure detection rate of 77% using a test set of EEG recordings of 22 neonates that also included dubious seizures. The newly proposed CNN classifier outperformed three data-driven feature-based approaches and performed similar to a previously developed heuristic method.
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Borovac, Ana, Thomas Philip Runarsson, Gardar Thorvardsson, and Steinn Gudmundsson. "Neonatal seizure detection algorithms: The effect of channel count." Current Directions in Biomedical Engineering 8, no. 2 (2022): 604–7. http://dx.doi.org/10.1515/cdbme-2022-1154.
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Abstract The number of electrodes used to acquire neonatal EEG signals varies between institutions. Therefore, tools for automatic EEG analysis, such as neonatal seizure detection algorithms, need to be able to handle different electrode montages in order to find widespread use. The aim of this study was to analyse the effect of montage on neonatal seizure detector performance. A full 18-channel montage was compared to reduced 3- and 8-channel montages using a convolutional neural network for seizure detection. Sensitivity decreased by 10 - 18 % for the reduced montages while specificity was mostly unaffected. Electrode artefacts and artefacts associated with biological rhythms caused incorrect classification of nonseizure activity in some cases, but these artefacts were filtered out in the 3-channel montage. Other types of artefacts had little effect. Reduced montages result in some reduction in classifier accuracy, but the performance may still be acceptable. Recording artefacts had a limited effect on detection accuracy.
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Duckworth, Eleanor, Daniyal Motan, Kitty Howse, Stewart Boyd, Ronit Pressler, and Maria Chalia. "Diagnostic Accuracy of the Persyst Automated Seizure Detector in the Neonatal Population." Journal of Integrative Neuroscience 23, no. 8 (2024): 150. http://dx.doi.org/10.31083/j.jin2308150.
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Temko, Andriy, William Marnane, Geraldine Boylan, and Gordon Lightbody. "A Data-Driven Energy Based Estimator of EEG Channel Importance for Improved Patient-Adaptive Neonatal Seizure Detector." IFAC Proceedings Volumes 44, no. 1 (2011): 13770–75. http://dx.doi.org/10.3182/20110828-6-it-1002.03457.
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Buraniqi, Ersida, Arnold J. Sansevere, Kush Kapur, Ann M. Bergin, Phillip L. Pearl, and Tobias Loddenkemper. "Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit." Journal of Child Neurology 32, no. 10 (2017): 880–85. http://dx.doi.org/10.1177/0883073817713918.
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Objective: Characterize clinical and electroencephalography (EEG) characteristics of preterm neonates undergoing continuous EEG in the neonatal intensive care unit. Methods: Retrospective study of preterm neonates born less than 37 weeks’ gestational age undergoing continuous EEG in the neonatal intensive care unit at Boston Children’s Hospital over a 2-year period. Results: Fifty-two preterms (46% male) had a mean gestational age of 32.8 weeks (standard deviation = 4.17). Seizures were detected in 12/52 (23%), with EEG seizures detected in 4/12 (33%). The median time from EEG to the first seizure was 0.5 hours (interquartile range 0.24-4). Factors associated with seizures were male gender (odds ratio = 4.65 [95% confidence interval = 1.02-21.24], P = .047) and lack of EEG state change (odds ratio = 0.043 [95% confidence interval = 0.005-0.377], P = .04). Conclusion: Twenty-three percent of preterms undergoing continuous EEG had EEG seizures or electrographic seizures with no clear clinical correlate. This confirms recent American Clinical Neurophysiology Society guidelines suggesting that preterm neonates are at high risk for seizures.
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Durgesh, Kannam, and Sandeep Reddy Chinthireddy. "A Study of Clinical and Biochemical Profile of Neonatal Seizures." International Journal of Toxicological and Pharmacological Research 12, no. 11 (2022): 1–7. https://doi.org/10.5281/zenodo.11420695.
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<strong>Background:</strong> One of the most prevalent and recognizable clinical signs of a neurological system in failure is neonatal seizures. Neonatal seizures are the outcome of the developing nervous system’s reactions to various shocks and can cause significant neonatal death and morbidity as well as childhood physical and cognitive deficits. Preterm infants are more likely to experience newborn seizures than term infants, and metabolic disorders are a frequent cause of neonatal seizures. <strong>Methods:</strong> Based on the inclusion and exclusion criteria a total of n=50 cases were enrolled for the current study. A detailed record of names, ages, sexes, addresses, weights, lengths, head circumferences, and gestational ages are reported, along with their detailed prenatal histories and baseline features. A thorough physical examination was performed, and clinical observation was used to identify seizures were recorded. Each seizure episode’s clinical information, such as age at seizure onset, seizure duration, number, and type, was documented. According to Volpe’s criteria, seizures were divided into five categories: mild, focal clonic, multifocal clonic, tonic, and myoclonic. <strong>Results: </strong>Out of a total of n=50 neonates hypoglycemia was found in n=12(24%) of cases. Out of the n=14 preterm babies n=5/14, preterm neonates (35.71%) were with hypoglycemia. In the case of term babies out of n=36 cases n=7/36 (19.44%) were with hypoglycemia although the occurrence of hypoglycemia was higher in preterm neonates the p-values were (>0.05) hence not significant. A total of n=10 cases were detected with hypocalcemia. Based on the term distribution of the cases out of preterm babies n=3/14 (21.42%) were with hypocalcemia and in term babies, hypocalcemia was found in n=7/36 (17.44%) cases. <strong>Conclusion: </strong>One of the most prevalent neurological conditions in newborns is neonatal seizures. Neonatal seizures can have a variety of origins, which affects not only how the disease develops but also its long-term neurological consequences, mortality, and morbidity. To prevent these issues, early examination, prompt diagnosis, and vigorous care in accordance with the etiology are required. Additionally, biochemical anomalies could either be a secondary issue or could be linked to other etiologies.
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Buttle, Sarah Grace, Brigitte Lemyre, Erick Sell, et al. "Combined Conventional and Amplitude-Integrated EEG Monitoring in Neonates: A Prospective Study." Journal of Child Neurology 34, no. 6 (2019): 313–20. http://dx.doi.org/10.1177/0883073819829256.
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Background/Objective: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG. Methods: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Clinical events and amplitude-integrated EEG were interpreted at bedside. Subsequently, amplitude-integrated EEG and conventional EEG were independently analyzed by experienced neonatology and neurology readers. Sensitivity and specificity of bedside amplitude-integrated EEG as compared to expert amplitude-integrated EEG interpretation and conventional EEG were evaluated. Results: Thirteen neonates were monitored for an average duration of 33 hours (range 15-94, SD 25). Fourteen seizure-like events were detected by clinical observation, and 12 others by bedside amplitude-integrated EEG analysis. One of the clinical, and none of the bedside amplitude-integrated EEG events were confirmed as seizures on conventional EEG. Post hoc expert amplitude-integrated EEG interpretation revealed eight suspected seizures, all different from the ones detected by the bedside amplitude-integrated EEG team, of which one was confirmed via conventional EEG. Eight seizures were recorded on conventional EEG. Expert amplitude-integrated EEG interpretation had a sensitivity of 13% with 46% specificity for individual seizure detection, and a sensitivity of 50% with 46% specificity for detecting patients with seizures. Conclusion: Real-world bedside amplitude-integrated EEG monitoring failed to detect all seizures evidenced via conventional EEG, while misclassifying other events as seizures. Even post hoc expert amplitude-integrated EEG interpretation provided limited sensitivity and specificity. Considering the poor sensitivity and specificity of bedside amplitude-integrated EEG interpretation, combined monitoring may provide limited clinical benefit.
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Abbasi, Hamid, Joanne O. Davidson, Simerdeep K. Dhillon, et al. "Deep Learning for Generalized EEG Seizure Detection after Hypoxia–Ischemia—Preclinical Validation." Bioengineering 11, no. 3 (2024): 217. http://dx.doi.org/10.3390/bioengineering11030217.
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Brain maturity and many clinical treatments such as therapeutic hypothermia (TH) can significantly influence the morphology of neonatal EEG seizures after hypoxia–ischemia (HI), and so there is a need for generalized automatic seizure identification. This study validates efficacy of advanced deep-learning pattern classifiers based on a convolutional neural network (CNN) for seizure detection after HI in fetal sheep and determines the effects of maturation and brain cooling on their accuracy. The cohorts included HI–normothermia term (n = 7), HI–hypothermia term (n = 14), sham–normothermia term (n = 5), and HI–normothermia preterm (n = 14) groups, with a total of >17,300 h of recordings. Algorithms were trained and tested using leave-one-out cross-validation and k-fold cross-validation approaches. The accuracy of the term-trained seizure detectors was consistently excellent for HI–normothermia preterm data (accuracy = 99.5%, area under curve (AUC) = 99.2%). Conversely, when the HI–normothermia preterm data were used in training, the performance on HI–normothermia term and HI–hypothermia term data fell (accuracy = 98.6%, AUC = 96.5% and accuracy = 96.9%, AUC = 89.6%, respectively). Findings suggest that HI–normothermia preterm seizures do not contain all the spectral features seen at term. Nevertheless, an average 5-fold cross-validated accuracy of 99.7% (AUC = 99.4%) was achieved from all seizure detectors. This significant advancement highlights the reliability of the proposed deep-learning algorithms in identifying clinically translatable post-HI stereotypic seizures in 256Hz recordings, regardless of maturity and with minimal impact from hypothermia.
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Buttle, SG, B. Lemyre, E. Sell, et al. "P.056 Combined conventional and amplitude-integrated EEG monitoring in neonates: a prospective study." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s1 (2019): S29. http://dx.doi.org/10.1017/cjn.2019.156.
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Background: Seizure monitoring via amplitude-integrated EEG (aEEG) is standard of care in many NICUs; however, conventional EEG (cEEG) is the gold standard for seizure detection. We compared the diagnostic yield of aEEG interpreted at the bedside, aEEG interpreted by an expert, and cEEG. Methods: Neonates received aEEG and cEEG in parallel. Clinical events and aEEG were interpreted at bedside and subsequently independently analyzed by experienced neonatology and neurology readers. Sensitivity and specificity of bedside aEEG as compared to expert aEEG interpretation and cEEG were evaluated. Results: Thirteen neonates were monitored for an average duration of 33 hours (range 15-94). Fourteen seizure-like events were detected by clinical observation, and 12 others by bedside aEEG analysis. None of the bedside aEEG events were confirmed as seizures on cEEG. Expert aEEG interpretation had a sensitivity of 13% with 46% specificity for individual seizure detection (not adjusting for patient differences), and a sensitivity of 50% with 46% specificity for detecting patients with seizures. Conclusions: Real-world bedside aEEG monitoring failed to detect seizures evidenced via cEEG, while misclassifying other events as seizures. Even post-hoc expert aEEG interpretation provided limited sensitivity and specificity. Considering the poor sensitivity and specificity of bedside aEEG interpretation, combined monitoring may provide limited clinical benefit.
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Asaduzzaman, Mohammad, Md Mizanur Rahman, and Mohammad Nadim Hasan. "Clinical Predictors of Poorly-Controlled Childhood Epilepsy: A Case-Control Study." Medicine Today 32, no. 2 (2020): 85–90. http://dx.doi.org/10.3329/medtoday.v32i2.48819.
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Introduction:The aim of the present study was to determine clinical factors associated with poorly controlled epilepsy.
 Materials and Methods: This retrospective study was performed from January 2007 to December 2008 at Paediatric Neurology outpatient department in Bangabandhu Sheikh Mujib Medical University, Dhaka, among the children with epilepsy of 7 months to 15 years age who had history of at least 6 months treatment with rational antiepileptic drugs daily with adequate compliance. There were two groups of patients; group 1, consisted of 50 poorly controlled epilepsy patients and group 2, comprised 50 well-controlled epilepsy patients. We retrospectively reviewed EEGs and medical records from these children. Features of clinical findings were compared between the two groups.
 Results: In this study, age of onset of initial seizure before 1 year, mixed type of seizure, infantile spasm, high initial seizure frequency (daily seizure), symptomatic etiology, mental retardation, neonatal seizure and more than 20 seizures before starting treatment were also found to be significant clinical predictors of poorly controlled epilepsy. Multivariate analysis detected 2 independent clinical predictors of poorly controlled epilepsy: mixed seizures and more than 20 seizures before starting treatment.
 Conclusions: The study showed several clinical factors that can be identified early in the course of childhood epilepsy which can predict development of poor seizure control. Knowledge of these factors will help us to discriminate our patients and pay more attention to those at risk of developing poorly controlled epilepsy.
 Medicine Today 2020 Vol.32(2): 85-90
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Pereira, Matheus Martins, and Marcos Alves Pavione. "PERFIL DOS RECÉM NASCIDOS MONITORIZADOS POR MEIO DE ELETROENCEFALOGRAMA DE AMPLITUDE INTEGRADA EM UMA MATERNIDADE PRIVADA DO NORDESTE DO BRAZIL." Revista ft 29, no. 140 (2024): 52–53. http://dx.doi.org/10.69849/revistaft/ni10202411071352.
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Neonatal seizures are a prevalent emergency, with mortality rates of 20-40% and morbidity rates of 40-60%. Defined as motor, behavioral, or autonomic neurological changes, seizures manifest within the first 28 days of life in term neonates or up to 44 weeks corrected gestational age in preterm infants. Incidence varies between 1-5 per 1,000 live births, increasing to 10-130 per 1,000 in preterm infants. Main causes include hypoxic-ischemic encephalopathy (HIE), ischemic stroke, intracranial hemorrhage, brain malformations, metabolic disorders, infections, and hypoglycemia. The primary goal is to identify the profile of patients who used aEEG; the secondary goal is to assess outcomes during and after use. This is a descriptive, cross-sectional observational study with a convenience sample. aEEG was used to monitor neonates and identify seizure patterns in 54 patients between February 2021 and November 2023. Results showed an equal gender distribution, with 73% born by cesarean section. The primary indication for monitoring was moderate or severe HIE (27.8%), and 74% of neonates had a pathological baseline pattern. Seizures were detected in 26% of cases, 64.3% of which were subclinical. For management, 76.9% of patients required only one anticonvulsant, mainly phenobarbital (91%). The use of aEEG enabled early diagnosis and reduced unnecessary anticonvulsant use in 69% of clinically suspected cases, highlighting the importance of early monitoring and the role of EEG in neonatal seizure management.
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Temko, A., E. Thomas, W. Marnane, G. Lightbody, and G. B. Boylan. "Performance assessment for EEG-based neonatal seizure detectors." Clinical Neurophysiology 122, no. 3 (2011): 474–82. http://dx.doi.org/10.1016/j.clinph.2010.06.035.
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AL-Naddawi, Mahjoob N., Numan N. Hameed, and Meisloon J. Kadum. "Clinical types and possible etiologies of neonatal seizures: A hospital based study." Journal of the Faculty of Medicine Baghdad 53, no. 1 (2011): 1–5. http://dx.doi.org/10.32007/jfacmedbagdad.531898.
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Background: Seizures in the neonatal period are common. They can present as focal clonic, focal tonic, myoclonic, generalized tonic and subtle seizures. They can be caused by a variety ofconditions, ranging from benign self-limited illnesses to severe life-threatening disorders.Patients and methods: A prospective study included 75 neonates with seizures in the first 28 days of life were admitted to neonatal care unit in Children Welfare Teaching Hospital from January 15th 2009 to August 15th 2009. A Full history was obtained and patients were examined by a specialist in the neonatal care unit and the researcher. Laboratory investigations and neuroimaging studies were done for all patients.Results: Out of 75 neonates, (55%) were males and (45%) were females with a male: female ratio of 1.2:1, (76%) of them was delivered at term. The onset of seizures was reported in the first 72 hours of life in (42.6%) of neonates. The most common type of seizure was tonic type (48%) followed by subtle type (24%), focal clonic 16% and multifocal clonic (12%). Hypoxic ischemic encephalopathy (HIE) was the commonest etiology (25.34%) then sepsis (24%), hypocalcaemia (14.67%), pyogenic meningitis (13.33%), hypoglycemia (9.33%), Kernicetrus (8%), IVH 4% and TORCH (1.33%).The consanguinity was detected in (26.7%) of patients. A response to Phenobarbitone alone was found in (42.1%) and to a combination of both phenobarbitone and phenytoin in (19.1%). The case fatality was (8%), (50%) of them were due to IVH.Conclusions: Neonatal seizures occurred mainly in full term neonates with male sex preponderance with the majority reported in their first 72 hours of life and the tonic seizures were the commonest pattern. Hypoxic ischemic encephalopathy is the main etiologic factor of neonatal seizures followed by sepsis. Intraventricular hemorrhage occurs mainly in preterm infants and it was a major cause of death.
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Kozhanova, T. V., S. S. Zhilina, T. I. Mescheryakova, et al. "Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case." Epilepsia and paroxysmal conditions 11, no. 1 (2019): 70–78. http://dx.doi.org/10.17749/2077-8333.2019.11.1.70-78.
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The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay. The examination included a phenotypic analysis: the course of the perinatal period, the nature of seizures, cognitive and behavioral disorders; video electroencephalography, and brain MRI. Using the targeted exome sequencing of genes associated with epileptic encephalopathy (NGS), we detected a nucleotide heterozygous variant of the ALDH7A1 gene (previously not described). This mutation led to the appearance of a stop codon in position 82 of the protein p.Arg82Ter and the amino acid substitution in position 399 of the protein p.Glu399Gln. This clinical observation demonstrates the importance of DNA-based diagnosis involving the targeted exome sequencing to identify molecular defects, especially in severe neonatal drug-resistant seizures. In the case of confirmed mutations in the ALDH7A1 gene, the patient should be given vitamin B6 at the therapeutic doses for seizure relief.
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Edwards, David A., Hina P. Shah, Wengang Cao, Nikolaus Gravenstein, Christoph N. Seubert, and Anatoly E. Martynyuk. "Bumetanide Alleviates Epileptogenic and Neurotoxic Effects of Sevoflurane in Neonatal Rat Brain." Anesthesiology 112, no. 3 (2010): 567–75. http://dx.doi.org/10.1097/aln.0b013e3181cf9138.
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Background We tested the hypothesis that in newborn rats, sevoflurane may cause seizures, neurotoxicity, and impairment in synaptic plasticity-effects that may be diminished by the Na-K-2Cl cotransporter 1 inhibitor, bumetanide. Methods Electroencephalography, activated caspase-3, and hippocampal long-term potentiation were measured in rats exposed to 2.1% sevoflurane for 0.5-6 h at postnatal days 4-17 (P4-P17). Results Arterial blood gas samples drawn at a sevoflurane concentration of 2.1% showed no evidence of either hypoxia or hypoventilation in spontaneously breathing rats. Higher doses of sevoflurane (e.g., 2.9%) caused respiratory depression. During anesthesia maintenance, the electroencephalography exhibited distinctive episodes of epileptic seizures in 40% of P4-P8 rats. Such seizure-like activity was not detected during anesthesia maintenance in P10-P17 rats. Emergence from 3 h of anesthesia with sevoflurane resulted in tonic/clonic seizures in some P10-P17 rats but not in P4-P8 rats. Bumetanide (5 micromol/kg, intraperitoneally) significantly decreased seizures in P4-P9 rats but did not affect the emergence seizures in P10-P17 rats. Anesthesia of P4 rats with sevoflurane for 6 h caused a significant increase in activated caspase-3 and impairment of long-term potentiation induction measured at 1 and 14-17 days after exposure to sevoflurane, respectively. Pretreatment of P4 rats with bumetanide nearly abolished the increase in activated caspase-3 but did not alleviate impairment of long-term potentiation. Conclusion These results support the possibility that excitatory output of sevoflurane-potentiated gamma-aminobutyric acid type A/glycine systems may contribute to epileptogenic and neurotoxic effects in early postnatal rats.
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Harsono, Mimily, Massroor Pourcyrous, Elliott J. Jolly, et al. "Selective head cooling during neonatal seizures prevents postictal cerebral vascular dysfunction without reducing epileptiform activity." American Journal of Physiology-Heart and Circulatory Physiology 311, no. 5 (2016): H1202—H1213. http://dx.doi.org/10.1152/ajpheart.00227.2016.
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Epileptic seizures in neonates cause cerebrovascular injury and impairment of cerebral blood flow (CBF) regulation. In the bicuculline model of seizures in newborn pigs, we tested the hypothesis that selective head cooling prevents deleterious effects of seizures on cerebral vascular functions. Preventive or therapeutic ictal head cooling was achieved by placing two head ice packs during the preictal and/or ictal states, respectively, for the ∼2-h period of seizures. Head cooling lowered the brain and core temperatures to 25.6 ± 0.3 and 33.5 ± 0.1°C, respectively. Head cooling had no anticonvulsant effects, as it did not affect the bicuculline-evoked electroencephalogram parameters, including amplitude, duration, spectral power, and spike frequency distribution. Acute and long-term cerebral vascular effects of seizures in the normothermic and head-cooled groups were tested during the immediate (2–4 h) and delayed (48 h) postictal periods. Seizure-induced cerebral vascular injury during the immediate postictal period was detected as terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling-positive staining of cerebral arterioles and a surge of brain-derived circulating endothelial cells in peripheral blood in the normothermic group, but not in the head-cooled groups. During the delayed postictal period, endothelium-dependent cerebral vasodilator responses were greatly reduced in the normothermic group, indicating impaired CBF regulation. Preventive or therapeutic ictal head cooling mitigated the endothelial injury and greatly reduced loss of postictal cerebral vasodilator functions. Overall, head cooling during seizures is a clinically relevant approach to protecting the neonatal brain by preventing cerebrovascular injury and the loss of the endothelium-dependent control of CBF without reducing epileptiform activity.
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Cao, Binbin, Bingwei Peng, Yang Tian, et al. "Clinical and genetic analysis of 18 patients with <i>KCNQ2 </i>mutations from South China." Turkish Journal of Pediatrics 66, no. 2 (2024): 191–204. http://dx.doi.org/10.24953/turkjpediatr.2024.4593.
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Background. We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China. Methods. Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed. Results. Eighteen epilepsy patients with KCNQ2 mutations, including seven self-limited neonatal epilepsy (SeLNE), two self-limited infantile epilepsy (SeLIE) and nine developmental and epileptic encephalopathy (DEE) were enrolled. The age of onset (p=0.006), mutation types (p=0.029), hypertonia (p=0.000), and seizure offset (p=0.029) were different in self-limited epilepsy (SeLE) and DEE. De novo mutations were mainly detected in DEE patients (p=0.026). The mutation position, EEG or the age of onset were not predictive for the seizure or ID/DD outcome in DEE, while the development of patients free of seizures was better than that of patients with seizures (p=0.008). Sodium channel blockers were the most effective anti-seizure medication, while the age of starting sodium channel blockers did not affect the seizure or development offset. We first discovered the seizure recurrence ratio in SeLNE/SeLIE was 23.1% in South China. Four novel mutations (c.790T>C, c.355_363delGAGAAGAG, c.296+2T>G, 20q13.33del) were discovered. Each of eight mutations (c.1918delC, c.1678C>T, c.683A>G, c.833T>C, c.868G>A, c.638G>A, c.997C>T, c.830C>T) only resulted in SeLE or DEE, while heterogeneity was also found. Six patients in this study have enriched the known phenotype caused by the mutations (c.365C>T, c.1A>G, c.683A>G, c.833T>C, c.830C>T, c.1678C>T). Conclusion. This research has expanded known phenotype and genotype of KCNQ2-related epilepsy, and the different clinical features of SeLE and DEE from South China.
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Morozova, E. A., R. R. Sergeeva, and D. V. Morozov. "Practical aspects of diagnosis and treatment of neonatal seizures." Epilepsia and paroxyzmal conditions 10, no. 4 (2019): 17–25. http://dx.doi.org/10.17749/2077-8333.2018.10.4.017-025.
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Aim– analyze the current practice of management in patients with neonatal seizures and perinatal brain disorders, and determine the ways to prevent long-term neurological complications.Materials and methods.The study group included 140 children (aged from 2 weeks to 18 months) with neonatal seizures and perinatal brain abnormalities. In these cases, the obstetric and early postnatal history was analyzed; all patients underwent video-EEG monitoring, cervical spine X-ray, neuroimaging, and a Doppler ultrasound test.Results.We found a number of reliable ante- and intra- partum predictors of neonatal seizures. According to the medical documentation from the neonatal pathology departments, local neonatologists have difficulties in diagnosing and verifying the type and duration of seizures. In most patients with neonatal seizures, we detected epileptiform EEG activity, signs of birth defects (according to X-ray) and marked changes (according to neuroimaging) in the cervical spine.Conclusion.The results confirm that neonatal seizures are one of the first symptoms of severe brain damage, including intra-natal damage. Evolution of neonatal seizures into drug-resistant epilepsy and further disability is associated with insufficient knowledge of neonatal seizures, standards for their diagnosis, therapy and multidisciplinary observation.
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Paprocka, Justyna, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, and Rafał Płoski. "Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease." Genes 15, no. 3 (2024): 350. http://dx.doi.org/10.3390/genes15030350.
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Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features. In this case report, we provide a detailed clinical description of the neonatal type of AxD. Method: Next-Generation Sequencing (NGS), including a panel of 49 genes related to Early Infantile Epileptic Encephalopathy (EIEE), was carried out, and then Whole Exome Sequencing (WES) was performed on the proband’s DNA extracted from blood. Case description: In the first weeks of life, the child presented with signs of increased intracranial pressure, which led to ventriculoperitoneal shunt implementation. Recurrent focal-onset motor seizures with secondary generalization occurred despite phenobarbital treatment. Therapy was modified with multiple anti-seizure medications. In MRI contrast-enhanced lesions in basal ganglia, midbrain and cortico-spinal tracts were observed. During the diagnostic process, GLUT-1 deficiency, lysosomal storage disorders, organic acidurias, and fatty acid oxidation defects were excluded. The NGS panel of EIEE revealed no abnormalities. In WES analysis, GFAP missense heterozygous variant NM_002055.5: c.1187C>T, p.(Thr396Ile) was detected, confirming the diagnosis of AxD. Conclusion: AxD should be considered in the differential diagnosis in all neonates with progressive, intractable seizures accompanied by macrocephaly.
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De Vos, M., W. Deburchgraeve, P. J. Cherian, et al. "PW7-3 Automated neonatal seizure detectors 1: heuristic approach and experience." Clinical Neurophysiology 121 (October 2010): S90. http://dx.doi.org/10.1016/s1388-2457(10)60381-1.
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Toet, Mona C., Floris Groenendaal, Damjan Osredkar, Alexander C. van Huffelen, and Linda S. de Vries. "Postneonatal epilepsy following amplitude-integrated EEG-detected neonatal seizures." Pediatric Neurology 32, no. 4 (2005): 241–47. http://dx.doi.org/10.1016/j.pediatrneurol.2004.11.005.
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Vanhatalo, Sampsa. "Development of neonatal seizure detectors: An elusive target and stretching measuring tapes." Clinical Neurophysiology 122, no. 3 (2011): 435–37. http://dx.doi.org/10.1016/j.clinph.2010.07.021.
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Stevenson, N. J. "PW7-4 Automated neonatal seizure detectors 2: systematic approach and clinical application." Clinical Neurophysiology 121 (October 2010): S90—S91. http://dx.doi.org/10.1016/s1388-2457(10)60382-3.
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Safarova, A. G. "CHARACTERISTICS OF GLYCEMIC AND MINERAL HEMOSTASIS WHILE NEONATAL CONVULSIONS." National Journal of Neurology 1, no. 19 (2019): 58–62. http://dx.doi.org/10.61788/njn.v1i19.06.
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This article is devoted to the disbalance of glycemic and mineral hemostasis in the etiopathogenetic mechanism of neonatal seizures. The purpose of the article: to assess the state of glycemic and mineral hemostasis in patients with neonatal convulsions. Materials and methods. 73 patients with neonatal convulsions were under observation. A blood glucose, sodium, potassium, magnesium and calcium content were investigated in all patients. Results. Among patients with neonatal convulsions hypoglycemia was detected 34.3±5.6%, hypocalcemia – 34.3±5.6%, hypomagnesaemia – 9.6±3.1%, combination of hypocalcemia with hypomagnesemia – 11.0±3.7%, hyponatremia – 11.0±3.7%, hyperkalemia and hypokalemia – 6.9±3.0%, and hypernatremia – 4.1±2.3%. Conclusion. Depending on the cause of neonatal seizures, the characteristics of glycemic and mineral hemostasis change.
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van Rooij, L. G. M., M. C. Toet, A. C. van Huffelen, et al. "Effect of Treatment of Subclinical Neonatal Seizures Detected With aEEG: Randomized, Controlled Trial." PEDIATRICS 125, no. 2 (2010): e358-e366. http://dx.doi.org/10.1542/peds.2009-0136.
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Xu, Xiongfei, Zhongzhuang Wang, Quan Li, et al. "Endothelial Nitric Oxide Synthase Expression Is Progressively Increased in Primary Cerebral Microvascular Endothelial Cells During Hyperbaric Oxygen Exposure." Oxidative Medicine and Cellular Longevity 2, no. 1 (2009): 7–13. http://dx.doi.org/10.4161/oxim.2.1.7697.
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Exposure to hyperbaric oxygen (HBO) can lead to seizures. Many studies have demonstrated that there exist a very close relationship between the alteration of cerebral blood flow (CBF) and the onset of seizures. Nitric oxide (NO) may play a key role in the change of CBF during exposure, and modulation of endothelial nitric oxide synthase (eNOS)-derived NO by HBO is responsible for early vasoconstriction, whereas late HBO-induced vasodilation depends upon a large amount of NO from both eNOS and neuronal nitric oxide synthase (nNOS). To investigate the effect of HBO on the activity and expression of eNOS in cerebral microvascular endothelial cells (CMEC) in vitro, primarily cultured CMEC from neonatal rats were exposed to oxygen at 500 kPa [5 atmosphere absolute (ATA)] for 10, 20, 30, 60 and 120 minutes (min), then eNOS activity, protein and mRNA contents in cells were detected. Our results showed that immediately after exposure, 30, 60 and 120 min HBO exposures did not alter NOS activity. When detected no matter immediately or six hours (h) after exposure, these exposures also did not alter eNOS protein and mRNA levels. However, when detected 24 h after exposure, 30, 60 and 120 min exposures upregulated eNOS protein content by 39%, 60% and 40% respectively. 10 and 20 min exposures upregulated eNOS mRNA content by about 15%, while 30, 60 and 120 min exposures upregulated it by about 20–30%. The increased eNOS protein and mRNA contents at 24 h after exposure may reflect new protein synthesis for eNOS. Our studies showed that with the exposing protocols we used, HBO did induce eNOS expression increase in CMEC. However, compared with the decrease of CBF in vivo, which occurred in a relative short time after rat was exposed to HBO above 4 ATA, the responses of eNOS in CMEC in vitro were a little slow. Thus we considered that for the vasodilation in the late period of HBO exposure before seizure, the effect of NO produced by eNOS was limited.
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Deeg, Karl-Heinz. "Sonographic and Doppler Sonographic Diagnosis of Neonatal Ischemic Stroke." Ultraschall in der Medizin - European Journal of Ultrasound 38, no. 04 (2017): 360–76. http://dx.doi.org/10.1055/s-0043-114409.
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AbstractChildren are particularly at risk for stroke in the neonatal period. 1/3 of all strokes in children occur during the perinatal period. The incidence of perinatal stroke is 1:4000. A differentiation is made between ischemic stroke and hemorrhagic stroke. Ischemic strokes are caused by arterial occlusion due to thrombosis or embolism. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is focal cerebral seizure during the first week of life. Therefore, stroke should be ruled out by diagnostic imaging in the case of any seizure in the first days of life. Although the diagnostic method of choice is MRI, it is not always available. Most neonatal ischemic strokes can be detected with high-resolution duplex ultrasound. On ultrasound, ischemic stroke appears as a wedge-shaped focal increase in echogenicity in the supply region of an artery, typically the middle cerebral artery. The corresponding arterial inflow can be visualized with duplex ultrasound and measured with spectral Doppler. Doppler ultrasound can be used to differentiate between complete occlusion and severe stenosis. The success of therapeutic measures can be determined in the further course with Doppler ultrasound on the basis of the recanalization of vessels and the morphological consequences of stroke (cyst formation due to liquefactive necrosis).
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Deeg, Karl-Heinz. "Duplex Sonographic Diagnosis of Perinatal Hemorrhagic Stroke." Ultraschall in der Medizin - European Journal of Ultrasound 38, no. 05 (2017): 484–98. http://dx.doi.org/10.1055/s-0043-115107.
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AbstractChildren are particularly at risk for stroke in the neonatal period. Neonatal hemorrhagic stroke is rarer than ischemic stroke. The incidence is 40.7/100 000 live births. Hemorrhagic stroke is caused by a disruption in venous drainage usually due to local thrombosis. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is a cerebral seizure during the first week of life. Therefore, stroke should be ruled out by diagnostic imaging in the case of any seizure in the first days of life. The diagnostic method of choice is MRI, but it is not always available. Most neonatal strokes can be detected with high-resolution duplex ultrasound. Hemorrhagic stroke appears as a focal increase in echogenicity in a venous drainage area on ultrasound. The corresponding venous drainage can be visualized with duplex ultrasound and measured with spectral Doppler. Hemorrhagic stroke of the internal veins appears as hemorrhage in the basal ganglia. Venous thrombosis must be ruled out in every cerebral hemorrhage of unclear origin in an otherwise healthy term newborn. In the case of hemorrhagic infarction of the basal ganglia, both internal cerebral veins, the great vein of Galen, and the straight sinus must be examined with Doppler ultrasound. Doppler ultrasound should be used to differentiate between complete occlusion and severe stenosis. The recanalization of vessels and the morphological consequences of hemorrhagic stroke can be visualized in the further course.
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Freitas, Alessandra, Erasmo B. Casella, Marcelo Valente, Carlos A. Buchpiguel, and Kette D. R. Valente. "Neonatal seizures: the overlap between diagnosis of metabolic disorders and structural abnormalities. Case report." Arquivos de Neuro-Psiquiatria 61, no. 2B (2003): 478–81. http://dx.doi.org/10.1590/s0004-282x2003000300029.
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Inborn metabolic errors (IME) and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS) which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME.
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Zavadenko, A. N., M. I. Medvedev, M. G. Degtyareva, S. O. Rogatkin, and N. N. Zavadenko. "Etiologies of neonatal seizures in infants of different gestational age." Epilepsia and paroxyzmal conditions 10, no. 3 (2018): 19–30. http://dx.doi.org/10.17749/2077-8333.2018.10.3.019-030.
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Aim:To determine main etiologies and clinical features of neonatal seizures (NS) in groups of newborns of different gestational age (GA).Materials and Methods. Main etiologies of NS were evaluated in 165 newborns divided into four groups: I – 84 early preterm newborns with GA of 28 weeks or less, II – 52 newborns with 29-32 weeks GA, III – 12 newborns with 33-36 weeks GA, and IV – 17 term infants with GA between 37 and 41 wks.Results. In the above 165 infants, the following causes of NS were found: perinatal hypoxia-ischemia – 72.1% of cases, grade III-IV intracranial hemorrhage – 6.1%, congenital infections in 9.7%, CNS infections (bacterial meningitis and viral meningoencephalitis) – 9.7%, сerebral dysgenesis – 1.2%, and inborn errors of metabolism and neurodegenerative diseases accounted for 1.2%. Intracranial hemorrhage (grade III-IV) was detected in newborns with GA less than 32 wks only. The etiological role of CNS infections was higher in term newborns (23.5%) than in the other groups.Conclusion.In examining newborns with NS, genetic mechanisms should be taken into consideration, especially when no indications of early brain damage are apparent. This approach is important today as targeted therapies of gene-associated epileptic syndromes are becoming feasible. In the present article, the use of levetiracetam in infants with NS and early onset epilepsy is discussed.
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Bertram, Edward H. "How Epilepsy Changes Sodium Channels." Epilepsy Currents 3, no. 2 (2003): 72. http://dx.doi.org/10.1111/j.1535-7597.2003.03215.x.
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Induction of Neonatal Sodium Channel II and III α-Isoform mRNAs in Neurons and Microglia After Status Epilepticus in the Rat Hippocampus Aronica E, Yankaya B, Troost D, van Vliet EA, Lopes da Silva FH, Gorter JA Eur J Neurosci 2001;13(6):1261 Sodium channels (NaChs) regulate neuronal excitability in both physiologic and pathological conditions, including epilepsy, and are therefore an important target for antiepileptic drugs (AEDs). In the present study, we examined the distribution of messenger RNAs (mRNAs) encoding neonatal NaChs II and III α-isoforms in control rat hippocampus and after electrically induced status epilepticus (SE), with nonradioactive in situ hybridization (ISH). Only weak expression of neonatal NaCh II and III mRNAs was observed in control hippocampus. By contrast, increased expression of neonatal NaCh II and III mRNAs was observed 4 hours after the induction of SE in neurons of CA1–CA3 and the dentate granule cell layer. These changes were detected only in rats in which SE was successfully induced and persisted, although less intensely, for up to 3 months, when rats display spontaneous seizures. Strong expression of neonatal NaCh α-isoforms was observed 1 week after SE in microglial cells, as confirmed by double labeling, combining ISH with immunocytochemistry for microglia markers. The increased expression of neonatal isoforms of the NaCh in both neurons and microglial cells may represent a critical mechanism for modulation of neuronal excitability, glial function, and pharmacologic response to AEDs in the course of epileptogenesis. Sodium Currents in Isolated Rat Ca1 Pyramidal and Dentate Granule Neurones in the Post-Status Epilepticus Model of Epilepsy Ketelaars SOM, Gorter JA, van Vliet EA, Lopes da Silva FH, Wadman WJ Neuroscience 2001;105:109–120 Status epilepticus (SE) was induced in the rat by long-lasting electrical stimulation of the hippocampus. After a latent period of 1 week, spontaneous seizures increased in frequency and severity in the following weeks, finally culminating after 3 months in a chronic epileptic state. In these animals, we determined the properties of voltage-dependent sodium currents in short-term isolated CA1 pyramidal neurons and dentate granule (DG) cells by using the whole-cell voltage-clamp technique. The conductance of the fast transient sodium current was larger in SE rats (84 ± 7 nS vs 56 ± 6 nS) but related to a difference in cell size, so that the neurons had a similar specific sodium conductance (control, 7.8 ± 0.8 nS/pF; SE, 6.7 ± 0.8 nS/pF). Current activation and inactivation were characterized by a Boltzmann function. After SE, the voltage dependence of activation was shifted to more negative potentials (control, −45.1 ± 1.4 mV; SE, −51.5 ± 2.9 mV; P < 0.05). In combination with a small shift in the voltage dependence of inactivation to more depolarized potentials (control, −68.8 ± 2.3 mV; SE, −66.3 ± 2.3 mV), it resulted in a window current that was much increased in the SE neurons (median, 64 pA in control; 217 pA in SE; P < 0.05). The peak of this window current shifted to more hyperpolarized potentials (control, −44 mV; SE, −50 mV; P < 0.05). No differences were found in the sodium currents analyzed in DG cells of control and SE animals. The changes observed in CA1 neurons after SE contribute to enhanced excitability, in particular, when membrane potential is near firing threshold. They can, at least partly, explain the lower threshold for epileptic activity in SE animals. The comparison of CA1 with DG neurons in the same rats demonstrates a differential response in the two cell types that participated in very similar seizure activity.
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Elzeblawy Hassan, Hanan. "Fetal and neonatal complications of pregnancy induced hypertension." American Research Journal of Public Health 3, no. 1 (2020): 1–3. http://dx.doi.org/10.21694/2639-3042.20003.
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Most pregnancy leаd to а successful outcome without complicаtionHowever, many factors can interfere with the normal process of pregnancy and may threat to the health of the mother or the development of the fetus. These fаctors can be detected at the beginning of pregnancy by reviewing the dаnger signs that may indicate complication. Pre-eclаmpsiа (PE) is а multi-system disorder of the mother that affects the fetus because of utero-plаcental insufficiency. In consequence, these children are at risk for intrа-uterine growth restriction and may be delivered premаturely. They may also suffer from the consequences of high rate of operative deliveries and the adverse effects of maternal drugs. These neonаtes may also have а spectrum of hemаtologicаl changes which may add to the existing morbidity in them. This can cause uncontrollаble bleeding and be life-threаtening for both mother and baby. Another complication is Eclаmpsiа (Pre-eclаmpsiа plus seizures) that happens when PE is uncontrolled. This is аssociated with maternal mortality. Fetal and newborn complicаtions of hypertensive disorders of pregnаncy include growth restriction, premаturity, and stillbirth. In addition, there is evidence that the intrauterine milieu in а hypertensive pregnаncy may
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Sharpe, Cynthia, Suzanne L. Davis, Gail E. Reiner, et al. "Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring." Journal of Clinical Neurophysiology 36, no. 1 (2019): 9–13. http://dx.doi.org/10.1097/wnp.0000000000000525.
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Che, Yuanyuan, Jianmin Zhong, Yong Chen, et al. "A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report." Medicine 102, no. 52 (2023): e36675. http://dx.doi.org/10.1097/md.0000000000036675.
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Introduction: Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn. Patient concerns: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as “neonatal intracranial hemorrhage, congenital heart disease,” and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital. Diagnosis: After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing. Intervention: After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased. Outcome: Up to now, although the seizures have decreased, they have not been completely controlled. Conclusions: The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
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Hawisa, Karima T., and Nehad Gabassa. "Comparative study between intermittent auscultation and cardiotocogram in low risk group during labour in Libya." Libyan Journal of Medical Research 8, no. 1 (2014): 8–13. http://dx.doi.org/10.54361/ljmr.v8i1.02.
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The goal of fetal heart rate monitoring has been early identification of the fetus at risk for hypoxic insult. The aim of this study is to establish the relation between FHR monitoring (CTG, intermittent auscultation) and fetal outcome and mode of delivery. It is prospective observational comparative study carried out in Zawia hospital maternity word. Study population consists of 200 women in labor having the criteria of low risk group included singleton pregnancies between 37 - 40 weeks gestation, half of them monitored by intermittent auscultation and the other half by CTG. In this study, 200 women, 100 of them fetal monitoring was done by continuous electronic monitoring by CTG, the other monitored by intermittent auscultation by pinard stethoscope. Caesarean sections were performed for 31% and 6% of both groups (electronic monitoring and pinard stethoscope) respectively, statistically significant. There are three cases delivered by instrumental delivery (ventose) one in CTG and two in fetoscpo group. Abnormality in fetal heart rate was detected in (12%) of electronic monitoring group (3.5%) of the pinard stethoscope group. The apgar score of babies in both group nearly the same (p = 0.411). The babies whose transferred in intensive care unit is higher in CTG group (26 - 20%, 9 - 6%, p = 0.374). One in CTG group has neonatal seizure. It is concluded that abnormalities in fetal heart rate were more reliably detected by electronic monitoring than with pinard stethoscope. Uses of continuous electronic monitoring carry high rate of cesarean section with no significant difference in neonatal outcome.
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Vasiljevic, Brankica, Svjetlana Maglajlic-Djukic, and Miroslava Gojnic. "The prognostic value of amplitude-integrated electroencephalography in neonates with hypoxic-ischemic encephalopathy." Vojnosanitetski pregled 69, no. 6 (2012): 492–99. http://dx.doi.org/10.2298/vsp1206492v.
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Background/Aim. Diagnosis of perinatal hypoxic-ischemic encephalopathy (HIE) and early prediction neurological outcome is important and difficult. The aim of this study was to determine the prognostic value of amplitude integrated electroencephalography (aEEG) for abnormal neurodevelopment outcome in a neonate with HIE. Methods. A total of 90 neonates > 32 gestational age (GA) with HIE were enrolled prospectively. All neonates with HIE were categorized into three grades according to the Sarnat and Sarnat clinical scoring system (mild HIE, moderate HIE and severe HIE). aEEG traces were recorded with a cerebral function monitor (CFM) during the first 72 h of life. The neurodevelopment outcome was assessed at 12 months of age of corrected gestational age. Results. The pattern of aEEG correlated with the severity of HIE (p < 0.0001) and subsequent neurodevelopment outcome (p < 0.001). We found that aEEG background patterns exhibited superior prediction of abnormal outcomes at 12 months of age (sensitivity of 91.7% and specificity of 94.3%, positive predictive value of 78.6% and negative predictive value of 98.1%) when compared to aEEG seizure (sensitivity of 94% and specificity of 48%, positive predictive value of 57% and a negative predictive value of 92%). Electroclinical dissociation seizure was detected in 28% of the neonates with HIE. Conclusions. Our results confirm that aEEG is simple and accurate bedside diagnostic method for assessing extension of hypoxic-ischemic brain damage and early identification of neonates with perinatal HIE who are at high risk of neurodevelopmental impairment.
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Seubert, Christoph N., Wanting Zhu, Christopher Pavlinec, Nikolaus Gravenstein, and Anatoly E. Martynyuk. "Developmental Effects of Neonatal Isoflurane and Sevoflurane Exposure in Rats." Anesthesiology 119, no. 2 (2013): 358–64. http://dx.doi.org/10.1097/aln.0b013e318291c04e.
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Abstract Background: The general anesthetics, isoflurane and sevoflurane, cause developmental abnormalities in neonatal animal models via incompletely understood mechanisms. Despite many common molecular targets, isoflurane and sevoflurane exhibit substantial differences in their actions. The authors sought to determine whether these differences can also be detected at the level of neurodevelopmental effects. Methods: Postnatal rats, 4–6 days old, were exposed to 1.2% isoflurane or 2.1% sevoflurane for 1–6 h and studied for immediate and delayed effects. Results: Isoflurane exposure was associated with weaker seizure-like electroencephalogram patterns than sevoflurane exposure. Confronted with a new environment at a juvenile age, the sevoflurane-exposed rats spent significantly more time in an “immobile” state than unexposed rats. Electroencephalographic (mean ± SE, 55.5 ± 12.80 s vs. 14.86 ± 7.03 s; P = 0.014; n = 6–7) and spontaneous behavior (F(2,39) = 4.43; P = 0.018) effects of sevoflurane were significantly diminished by pretreatment with the Na+–K+–2Cl– cotransporter inhibitor bumetanide, whereas those of isoflurane were not. Pretreatment with bumetanide, however, diminished isoflurane-induced activation of caspase-3 in the cerebral cortex (F(2,8) = 22.869; P = 0.002) and prevented impairment in sensorimotor gating function (F(2,36) = 5.978; P = 0.006). Conclusions: These findings in combination with results previously reported by the authors suggest that isoflurane and sevoflurane produce developmental effects acting via similar mechanisms that involve an anesthetic-induced increase in neuronal activity. At the same time, differences in their effects suggest differences in the mediating mechanisms and in their relative safety profile for neonatal anesthesia.
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Kapoor, S., M. Nemcovic, J. Folbergrova, et al. "N-glycans Profiling in Pilocarpine Induced Status Epilepticus in Immature Rats." European Pharmaceutical Journal 69, no. 2 (2022): 1–4. http://dx.doi.org/10.2478/afpuc-2022-0011.
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Abstract Status epilepticus (SE) is a common neurological emergency in children and a well-known epileptogenic insult. Neonates are extremely susceptible to seizures in the neonatal period due to the higher vulnerability. Neonatal SE is associated with significant mortality and morbidity. There is an evident need for attention on neonatal SE in research due to the incredibly limited diagnostic and treatment options in current neonatology, and its serious long-term consequences. The aim of the present study was to characterize the glycoprofiles in the pilocarpine-induced SE model in immature rats to assess the overall N-glycans composition. To induce lithium-pilocarpine (Li-Pilo) SE male Wistar rat pups were pretreated with lithium chloride (127 mg/kg, n=11) on the 11th postnatal day. After 24 hours, the lithium pre-treated pups were administered either with pilocarpine intraperitoneally (i.p.) (35 kg/g, n=6) or saline (n=5) in the control group (Control). On the 19th postnatal day, serum was collected and the analytical procedures were done by mass spectrometry (MS) analytics on matrix-assisted laser desorption/ionization in combination with a time-of-flight detector (MALDI-TOF/MS). Analyzed data were processed by FlexAnalysis (Bruker Daltonics) and GlycoWorkbench software. There were 21 N-glycans that were identified, appointed, and sorted with special emphasis on their structure. We have demonstrated the significant changes in terms of N-glycans sialylation in Li-Pilo compared to the Control. We also observed some other remodelation trends in different portions of relative intenstities of N-glycan clusters according to their glycan type. Our preliminary findings have laid the foundation for additional investigation into glycosylation alterations in the SE in immature rats.
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Qureshi, Umar Amin, Abdus Sami Bhat, Muzaffar Jan, and Uruj Qureshi. "Late Onset Hypocalcemic Seizures in Formula-Fed, Vitamin D Deficient Babies: Revisited." Journal of Neonatology 34, no. 1-2 (2020): 15–18. http://dx.doi.org/10.1177/0973217920927903.
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Purpose: Late onset neonatal hypocalcemia (LNH) is defined as hypocalcemia detected after day 3 of life. Its occurrence in babies fed with cow’s milk is well understood. Since the advent of modern-day formulas, the incidence has however decreased. Methods: A prospective descriptive study (January 2017 to December 2017) of LNH seizures in neonates was conducted. LNH was defined as the total serum calcium of less than 7 mg/dL in preterm or less than 8 mg/dL in term newborns after 72 h of life. Results: 14 neonates were presented with myoclonic and focal seizures due to late hypocalcemia. All were formula fed. Their mean serum calcium, phosphorus, alkaline phosphatase, magnesium, 25-OH vitamin D, intact PTH levels were 4.93 mg/dL, 9.19 mg/dL, 244 U/L, 1.2 mg/dL, 30 nmol/L, 38.6 pg/mL, respectively. Mean maternal vitamin D levels were 43 nmol/L. Mean hospital stay was 4 days. Clinical response to treatment was brisk in those who were able to shift to total breast feeding early. Conclusions: LNH in formula-fed and vitamin D deficient babies is not uncommon. Emphasis should be laid on exclusive breast feeding even in vitamin D deplete mothers. However, mothers at risk should be supplemented with vitamin D during pregnancy.
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Patil, Madhoosudan, Brock Matter, Yogendra Raol, David Bourne, Ryan Kelley, and Uday Kompella. "Brain Distribution and Metabolism of Flupirtine, a Nonopioid Analgesic Drug with Antiseizure Effects, in Neonatal Rats." Pharmaceutics 10, no. 4 (2018): 281. http://dx.doi.org/10.3390/pharmaceutics10040281.
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Flupirtine, a nonopioid analgesic drug, is effective in treating neonatal seizures. However, its brain delivery and pharmacokinetics are unknown in neonatal mammals. The purpose of this study was to determine the pharmacokinetics of flupirtine and the formation of its active metabolite D-13223 in various tissues such as brain in neonate animals. On postnatal day 7, rat pups received 25 mg/kg of flupirtine intraperitoneally. Liver; heart; kidney; lung; spleen; retina; serum; and brain regions hippocampus, cortex, and the remaining brain (devoid of cerebellum) were harvested up to 24-h postdosing. An LC-MS/MS assay was developed to quantify flupirtine and D-13223. Flupirtine was delivered to all tissues assessed, with the highest area under the concentration vs. time curve (AUC0–24h) in liver (488 µg·h/g tissue) and the lowest in spleen (82 µg·h/g tissue). Flupirtine reached the brain, including the hippocampus and cortex, within 1 h of dosing and persisted at 24 h. Flupirtine AUC in various brain regions was approximately 195 µg·h/g tissue. The half-life of flupirtine in various tissues ranged from 3.1 to 5.2 h. D-13223 was formed in vivo and detected in all tissues assessed, with the concentrations being the highest in the liver. Incubation of isolated neonatal rat liver, heart, kidney, lung, spleen, whole eye, serum, or whole brain with flupirtine for 3 h at 37 °C formed D-13223 in all tissues, except serum. D-13223 formation was the highest in isolated liver tissue. Tissue partition coefficients based on isolated tissue uptake correlated well with in vivo tissue:serum drug exposure ratios. Thus, flupirtine reaches the target brain tissues from the systemic route in neonatal rats, and brain tissue forms the active metabolite D-13223.
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Polise, Olivia, and Desi Newberry. "The Use of Cerebral Near-Infrared Spectroscopy in Neonatal Hypoxic-Ischemic Encephalopathy." Advances in Neonatal Care 23, no. 6 (2023): 547–54. http://dx.doi.org/10.1097/anc.0000000000001114.
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Background: Cerebral near-infrared spectroscopy (cNIRS) is a noninvasive technology used to trend cerebral perfusion at the bedside. cNIRS has potential as a valuable tool in the evaluation of infants with suspected hypoxic-ischemic encephalopathy (HIE). Trending cerebral perfusion with cNIRS can provide information regarding cerebral metabolism as HIE is evolving, which may offer insight into the extent of brain injury. Purpose: The purpose of this systematic review is to investigate the use of cNIRS as a neurocritical tool in the management of neonatal HIE by evaluating its ability to detect acute neurological compromise, including acute brain injury and seizure activity, as well as its potential to identify infants at high risk for long-term neurodevelopmental impairment. Methods: A literature search was conducted using PubMed, CINAHL, and Web of Science databases to review articles investigating cNIRS technology in the acute management of HIE. Results: Eight studies were identified and included in this systematic review. Correlations were observed between cNIRS trends and neurological outcomes as later detected by MRI. cNIRS has potential as a bedside neuromonitoring tool in the management of HIE to detect infants at high risk for brain injury. Implications for Practice: Existing research supports the value of trending cNIRS in HIE management. Documented normal cNIRS values for both term and preterm infants in the first few days of life is approximately 60% to 80%. A steadily increasing cNIRS reading above an infant's baseline and a value of more than 90% should prompt further evaluation and concern for significant neurological injury.
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Kowalczyk, Emilia, Sylwia Koziej, Martyna Niemczuk, Adrianna Jasiuk, and Mateusz Wiekiera. "Congenital toxoplasmosis: potential outcomes and therapeutic challenges - a complex case report of the newborn with treatment-resistant manifestations." Journal of Education, Health and Sport 54 (January 21, 2024): 187–99. http://dx.doi.org/10.12775/jehs.2024.54.014.
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Introduction and purpose Toxoplasmosis, a prevalent parasitic infection caused by Toxoplasma gondii, impacts approximately one-third of the global population. Among congenital infections, Congenital Toxoplasmosis (CT) ranks second only to CMV infection in neonates. The severity of fetal and neonatal clinical manifestations depends on factors such as gestational age during infection, parasite load, infectious strain virulence, and maternal immune status. The organogenesis stage in the second trimester is identified as the critical period (10th-24th gestational weeks). Fetal CT may present with ultrasound-detected abnormalities, including intracranial calcifications, microcephaly, hydrocephalus, ascites, hepatosplenomegaly or severe intrauterine growth restriction. Even in the absence of symptoms at birth, CT can lead to long-term consequences such as hydrocephalus, seizures, and cognitive, auditory, and visual impairments. The aim of this study is to present a clinical case of a patient with CT infection complicated by treatment-resistant hydrocephalus and neurological symptoms, including muscle tone disturbances and seizures. Conclusion The significance of screening tests cannot be overstated, as early intervention is crucial to prevent enduring complications. Routine counseling for pregnant women is imperative to raise awareness about Toxoplasma gondii infection, empowering them to adopt necessary preventive measures. Additionally, further research is warranted to assess the efficacy of diverse treatment protocols, the risk of adverse effects, and the effectiveness of emerging therapeutic agents.
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Lu, Yang, Stephan Waltz, Katja Stenzel, Hiltrud Muhle, and Ulrich Stephani. "Photosensitivity in epileptic syndromes of childhood and adolescence." Epileptic Disorders 10, no. 2 (2008): 136–43. http://dx.doi.org/10.1684/epd.2008.0183.
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ABSTRACT Purpose Photosensitivity, a reaction of the brain to external photic stimulation, can be graded from 1 to 4, and is most frequently seen in the first decades of life. This study investigated photosensitivity in children with epilepsy. Methods A retrospective study performed in the neuropaediatric department of the largest paediatric hospital in Kiel, treating patients at all medical care levels. The clinical data and EEG records of 566 patients with the most common epileptic syndromes were analyzed, in particular regarding photosensitivity. Their EEGs included application of intermittent light stimulation using standard techniques at twice the minimum. Results The proportion of photosensitive patients was significantly higher in the paediatric cohort than in adult patients, as published in the literature: 46% of patients with generalized epilepsies showed photosensitivity as compared to 20% with focal epilepsies. Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial – Rolandic epilepsy, 23%; symptomatic/ cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/febrile seizures), this ranged between 40% and 23%, respectively. The generalized photoparoxysmal response, (PPR), grades 3 and 4 were found significantly more often in patients with IGE (92%) than in patients with focal epilepsies. Finally, the female preponderance was confirmed (37% to 27% of all epilepsies). Conclusions Photosensitivity can be detected both in patients with IGE, with idiopathic and symptomatic/cryptogenic types of focal epilepsies, and with epileptic (occasional) seizures. PPR grades 3 and 4 are the most common in IGE.
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V. V., Lakshmi Aparna Devi, Chapay Soren, M. Umadevi, and R. Pradeep. "Incidence of meningitis in term neonates with sepsis and antibiotic sensitivity pattern: an observational study." International Journal of Contemporary Pediatrics 7, no. 1 (2019): 99. http://dx.doi.org/10.18203/2349-3291.ijcp20195734.
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Background: To find out the incidence of meningitis in neonatal sepsis and antibiotic sensitivity pattern in term neonates.Methods: This prospective observational cohort study was done in a tertiary care hospital located in rural South India for a period of 2 years. Blood culture and lumbar puncture were performed for all term babies with clinically suspected sepsis. Growth, if detected was followed by antibiotic sensitivity testing.Results: Of a total of 50 neonates investigated with blood culture, 32(64%) were found to be culture positive for neonatal septicemia, 16 were diagnosed to have meningitis. Meningitis was present in 4(25%) early onset sepsis cases and in 12(75%) late onset sepsis cases (p-value: 0.008). Blood culture showed growth in all of the 16 cases of meningitis, but Cerebro Spinal Fluid (CSF) culture was positive in 5 cases. The most common presenting features are lethargy, seizures, decreased acceptance of feeds, instability of temperature regulation, vomiting, respiratory distress, and apnea. The most common organism in blood culture was Coagulase Negative Staphylococcus (CONS) (20%) followed by Klebsiella spp. (16%). CONS was most sensitive to Linezolid (100%), Vancomycin (90%). Of the 8 cases of Klebsiella, 62.5% cases were sensitive to Colistin and Tigecycline, 50% to Cotrimoxazole. CSF culture was positive in 5(31.25%) cases. CONS and Enterococci spp. were the most common organisms isolated in CSF.Conclusions: Clinical manifestations of meningitis overlap with those of sepsis and are nonspecific. Significant number of neonates with sepsis have meningitis. Hence, it is necessary to rule out meningitis in neonates presented with clinical features of sepsis. CONS was the most common agent isolated in both blood and CSF culture. Routine bacterial surveillance and study of their resistance patterns must be an essential component of neonatal care which helps in implementation of a rational empirical treatment strategy.
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Jiang, Liang-Liang, Shao-Hua Bi, Jing Yu, Feng-Xia Zhao, Maggie Teng, and Ru-Jeng Teng. "Severe hemolytic disease of the newborn caused by JKb antibody: Two case reports and literature review." Medicine 102, no. 30 (2023): e34390. http://dx.doi.org/10.1097/md.0000000000034390.
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Background: JKb antibody rarely causes severe hemolytic disease in the newborn except in 1 case, required blood exchange transfusion but later died of intractable seizure and renal failure. Here we describe 2 cases of JKb-induced severe neonatal jaundice requiring blood exchange transfusion with good neurological outcome. Case presentation: Two female Chinese, ethnic Han, term infants with severe jaundice were transferred to us at the age of 5- and 4-day with a total bilirubin of 30.9 and 25.9 mg/dL while reticulocyte counts were 3.2% and 2.2%, respectively. Both infants were not the firstborn to their corresponding mothers. Direct and indirect Coombs’ tests were positive, and JKb antibody titers were 1:64 (+) for both mothers. Phototherapy was immediately administered, and a blood exchange transfusion was performed within 5 hours of admission. Magnet resonance image showed no evidence of bilirubin-induced brain damage, and no abnormal neurological finding was detected at 6 months of life. Conclusion: JKb antibody-induced hemolytic disease of the newborn usually leads to a benign course, but severe jaundice requiring blood exchange transfusion may occur. Our cases suggest good outcomes can be achieved in this minor blood group-induced hemolytic disease of the newborn if identified and managed early enough.
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Sousa, Tainã Maria Alves de, Vinicius Siessere Gugelmin, Geraldo Magela Fernandes, Carlos Nogueira Aucélio, Karina Nascimento Costa, and Rosana Maria Tristão. "Comparison of conventional, amplitude-integrated and geodesic sensor net EEG used in premature neonates: a systematic review." Arquivos de Neuro-Psiquiatria 77, no. 4 (2019): 260–67. http://dx.doi.org/10.1590/0004-282x20190030.
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ABSTRACT The use of methods to evaluate cortical activity in neonates has great importance in modern medicine, as it allows the observation and evaluation of several clinical aspects, which guarantees that the health team has knowledge about possible intervention measures that may be necessary in the treatment of newborns. Objective: This systematic review aimed to compare the main technologies available for the evaluation of brain functions in neonates, among them: the conventional electroencephalogram (EEG), the amplitude-integrated electroencephalogram (aEEG) and the geodesic sensor net EEG. Methods: A search was conducted forarticles from national and international periodicals included in the Web of Science, LILACS, SciELO and Medline electronic databases. Results: The search found 39 among 155 articles of interest and the analyses indicated that, in the clinical environment, the use of both conventional EEG and aEEG is highly recommended, as the combination of their functions allows, for example, a greater number of subclinical seizures to be detected. Conversely, the use of a geodesic sensor net EEG could be of great value, as it allows a large amount of data to be analyzed. Conclusion: This analysis may be useful in studies and research related to diseases and symptoms, such as seizures, a current challenge for neonatal neuromonitoring, as well as aspects of neurological development and functional studies. However, despite many advances in technology, electroencephalography in preterm neonates remains a challenge worldwide and still requires more robust research and efforts towards the best clinical assistance in this extremely early stage of life.
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Odenwald, Brigitte, Uta Nennstiel-Ratzel, Helmuth-Günther Dörr, Heinrich Schmidt, Manfred Wildner, and Walter Bonfig. "Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life." European Journal of Endocrinology 174, no. 2 (2016): 177–86. http://dx.doi.org/10.1530/eje-15-0775.
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ObjectiveTo evaluate adrenal crises after the start of treatment up to the age of 6 years in children with classic congenital adrenal hyperplasia (CAH).DesignAnalysis of data extracted from a population-based prospective long-term follow-up study of children detected in neonatal screening.MethodsData of 102 Bavarian children with classic CAH due to 21-hydroxylase deficiency were analyzed, using parental questionnaires and medical reports. Parent-reported hospital admissions of children diagnosed with acute health impairment were included in the analysis if salt loss (hyponatremia) or hypoglycemia was documented in the discharge summary.ResultsA total of 74 children (72.5%) had no report of hospital admissions with salt loss or hypoglycemia during the observational period. However, in 27.5% of the children, 22 salt-wasting crises (seven of these also with low blood glucose) and 16 hypoglycemic episodes without salt loss were reported. Furthermore, the cumulative incidence for seizures was elevated; 13 children experienced seizures during hyponatremia or hypoglycemia. Most adrenal crises were triggered by infections, often with inappropriate emergency management, but in 11 cases hypoglycemia occurred unexpectedly, without evidence of severe illness and without any management errors. Frequency of adrenal crises was 6.5 per 100 patient years (95% CI: 4.6–8.8).ConclusionsCrisis prevention remains a permanent challenge for families and physicians caring for children with classic CAH. Expert care and compliance with emergency recommendations are crucial. Further research on the interactions among glucocorticoid deficiency, adrenomedullary dysfunction, and glucose metabolism is necessary for the prevention of hypoglycemia, especially in young CAH patients.
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Khani, Soghra, Mina Barzegari, Zahra Esmaeilizadeh, et al. "The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency." Journal of Pediatric Endocrinology and Metabolism 34, no. 9 (2021): 1157–67. http://dx.doi.org/10.1515/jpem-2021-0155.
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Abstract Objectives This study aimed to evaluate the biochemical factors, genetic mutations, outcome of treatment, and clinical follow-up data of Iranian patients with tetrahydrobiopterin (BH4) deficiency from April/2016 to March/2020. Methods Forty-seven BH4 deficiency patients were included in the study and underwent biochemical and genetic analyses. The clinical outcomes of the patients were evaluated after long-term treatment. Results Out of the 47 (25 females and 22 males) BH4 deficiency patients enrolled in the study, 23 were Dihydropteridine reductase (DHPR) deficient patients, 23 were 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficient patients, and one was GTP-Cyclohydrolase 1 deficiency (GTPCH-1) patient. No clinical symptoms were observed in 10 of the DHPR deficient patients (before and after the treatment). Also, most patients diagnosed at an early age had a proper response to the treatment. However, drug therapy did not improve clinical symptoms in three of the patients diagnosed at the age of over 10 years. Also, 16 PTPS deficiency patients who were detected within 6 months and received treatment no clinical symptoms were presented. One of the patients was detected with GTPCH deficiency. Despite being treated with BH4, this patient suffered from a seizure, movement disorder, mental retardation, speech difficulty, and hypotonia. Conclusions The study results showed that neonatal screening should be carried out in all patients with hyperphenylalaninemia because early diagnosis and treatment can reduce symptoms and prevent neurological impairments. Although the BH4 deficiency outcomes are highly variable, early diagnosis and treatment in the first months of life are crucial for good outcomes.
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Dipak, Niraj Kumar, and Nadia Shagufta. "Malignant Infantile Osteopetrosis: A Rare Cause of Refractory Hypocalcemia." Indian Pediatrics Case Reports 3, no. 4 (2023): 229–33. http://dx.doi.org/10.4103/ipcares.ipcares_70_23.
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Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinical Description: A 2-month-old baby boy presented with features of lower respiratory tract infection, along with a swollen right upper arm due to fracture of humerus, along with signs of bicytopenia and hepatosplenomegaly. He had a history of hypocalcemic seizures at 8th day of life. Management and Outcome: Current hospitalization revealed refractory hypocalcemia and hypophosphatemia with normal to increased Vitamin D and parathormone levels and increased density of bone. Hypocalcemia was particularly refractory in nature needing multiple intravenous calcium corrections. Whole exome sequencing detected compound heterozygous variants in the T-cell immune regulator 1 pathogenic gene of IMO. Simultaneously, a heterozygous nonsense variation in exon 4 of the CHRNA4 gene was detected causing nocturnal frontal lobe epilepsy. As the infant had evidence of bone marrow failure, he was considered and referred for hematopoietic stem cell transplantation. Conclusion: Neonatal and early infantile hypocalcemia are commonly seen by pediatricians, but an etiology of IMO is rarely considered. The presence of fracture of long bones with cytopenias and hepatosplenomegaly in a young infant with recurrent hypocalcemia, without Vitamin D deficiency, should raise suspicion of this disorder and genetic analysis should be carried out for the same.