Ferritin as an Effective Predictor of Neurological Outcomes in Children With Acute Necrotizing Encephalopathy
Acute necrotizing encephalopathy (ANE) is a fulminant disease with poor prognosis. Cytokine storm is the important phenomenon of ANE that affects the brain and multiple organs. The study aimed to identify whether hyperferritinemia was associated with poor prognosis in patients with ANE. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 6, 2024 Category: Neurology Authors: En-Pei Lee, Jainn-Jim Lin, Han-Pi Chang, Chen-Wei Yen, Ming-Shun Hsieh, Oi-Wa Chan, Kuang-Lin Lin, Ya-Ting Su, Chun-Ting Mu, Shao-Hsuan Hsia Tags: Research Paper Source Type: research
Ferritin as an Effective Predictor of Neurologic outcomes in Children With Acute Necrotizing Encephalopathy
Acute necrotizing encephalopathy (ANE) is a fulminant disease with poor prognosis. Cytokine storm is the important phenomenon of ANE that affected the brain and multiple organs. The study aimed to identify whether hyperferritinemia was associated with poor prognosis in patients with ANE. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 6, 2024 Category: Neurology Authors: En-Pei Lee, Jainn-Jim Lin, Han-Pi Chang, Chen-Wei Yen, Ming-Shun Hsieh, Oi-Wa Chan, Kuang-Lin Lin, Ya-Ting Su, Chun-Ting Mu, Shao-Hsuan Hsia Tags: Research Paper Source Type: research
A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients
Fatty acid 2-hydroxylase (FA2H) is encoded by the FA2H gene, with mutations therein leading to the neurodegenerative condition, spastic paraplegia-35 (SPG35). We aim to elucidate the genetic underpinnings of a nonconsanguineous Chinese family diagnosed with SPG35 by examining the clinical manifestations, scrutinizing genetic variants, and establishing the role of FA2H mutation in lipid metabolism. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li, Guoxia Wang, Ying Yang Tags: Research Paper Source Type: research
A retrospective review of 18 patients with childhood-onset hereditary spastic paraplegia, nine with novel variants
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders characterized primarily by progressive spasticity and weakness in the lower limbs. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Mehmet Akif KILIC, Edibe Pembegul YILDIZ, Adnan DENIZ, Orhan COSKUN, Fulya KUREKCI, Ridvan AVCI, Hulya Maras GENC, Gozde YESIL, Sinan AKBAS, Ahmet YESILYURT, Bulent KARA Tags: Research Paper Source Type: research
A novel homozygous deletion including exon 1 of FA2H gene cause spastic paraplegia-35: genetic and lipidomics analysis of the patients
This is the first study of lipid metabolism in the blood of SPG35 patients. The results broaden our understanding of the SPG35 gene spectrum, offering insights for future molecular mechanism research and laying a groundwork for determining metabolic markers. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Lidangzhi Mo, Xiaoling Tie, Fengyu Che, Liyu Zhang, Benchang Li, Guoxia Wang, Ying Yang Tags: Research Paper Source Type: research
Risk factors for massive cerebral infarction in pediatric patients with moyamoya disease
To explore risk factors for preoperative massive cerebral infarction (MCI) in pediatric patients with moyamoya disease (MMD). (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Fangbin Hao, Gan Gao, Qingbao Guo, Simeng Liu, Minjie Wang, Zhengyao Chang, Hui Wang, Mingming Lu, Shitong Liu, Zhengxing Zou, Qian Zhang, Xiaopeng Wang, Heguan Fu, Jingjie Li, Cong Han, Lian Duan Tags: Research Paper Source Type: research
Practical considerations for delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy
Delandistrogene moxeparvovec is a gene transfer therapy approved in the United States, United Arab Emirates, and Qatar for the treatment of ambulatory patients aged 4 through 5 years with a confirmed Duchenne muscular dystrophy (DMD)-causing mutation in the DMD gene. It was developed to address the underlying cause of DMD through targeted skeletal, respiratory, and cardiac muscle expression of delandistrogene moxeparvovec micro-dystrophin, an engineered, functional dystrophin protein. Drawing on clinical trial experience from Study 101 (NCT03375164), Study 102 (NCT03769116), and ENDEAVOR (Study 103; NCT04626674), we outlin...
Source: Pediatric Neurology - January 5, 2024 Category: Neurology Authors: Jerry R. Mendell, Crystal Proud, Craig M. Zaidman, Stefanie Mason, Eddie Darton, Shufang Wang, Christoph Wandel, Alexander P. Murphy, Eugenio Mercuri, Francesco Muntoni, Craig M. McDonald Tags: Research Paper Source Type: research
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America
Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Michelle Silva Zeny, Daniel Almeida do Valle, Mara L úcia Schmitz Ferreira Santos, Tiago S. Bara, Mara L. Cordeiro Tags: Research Paper Source Type: research
A Study of General Movement Assessment and Its Association With Neurodevelopmental Outcome at Age 12 to 15 Months Among Term Neonates With Hyperbilirubinemia
To determine the association between optimality score at term age and age three to five months and neurodevelopmental outcome among neonates with hyperbilirubinemia. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Nagaratna Vallamkonda, Tapas Bandyopadhyay, Arti Maria Tags: Research Paper Source Type: research
Concurrent Developmental Regression and Neurocognitive Decline in a Child with de novo CHD8 Gene Mutation
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unique ASD subtypes have been proposed based on specific genotype-phenotype combinations. The ASD subtype associated with various chromodomain helicase DNA-binding protein 8 (CHD8) mutations has been associated with an incidence of autistic regression greater than that of all-cause ASD, but the mean age of onset of this subtype remains unknown. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Kyung Eun Paik, GenaLynne C. Mooneyham Tags: Short Communication Source Type: research
A study of general movement assessment and its association with neurodevelopmental outcome at 12-15 months of age among term neonates with hyperbilirubinemia
To determine the association between optimality score at term age and 3-to 5-month age with neurodevelopmental outcome among neonates with hyperbilirubinemia. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Nagaratna Vallamkonda, Tapas Bandyopadhyay, Arti Maria Tags: Research Paper Source Type: research
Characteristics of Opsoclonus –Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America
Opsoclonus –myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin A merica. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 4, 2024 Category: Neurology Authors: Michelle Silva Zeny, Daniel Almeida do Valle, Mara L úcia Schmitz Ferreira Santos, Tiago S. Bara, Mara L. Cordeiro Tags: Research Paper Source Type: research
A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index
There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 2, 2024 Category: Neurology Authors: Beril Dilber, Esra Serdaro ğlu, Seda Kanmaz, Betül Kılıç, Rojan İpek, Deniz Kargın Menderes, Nihal Yıldız, Yasemin Topçu, Ebru Petek Arhan, Ayşe Serdaroğlu, Çetin Okuyaz, Kürşad Aydın, Hasan Tekgül, Ali Cansu Tags: Research Paper Source Type: research
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India
White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiologic spectrum of these disorders in the Asian Indian population. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 2, 2024 Category: Neurology Authors: Lekshmi S. Nair, Jamal Mohammed Nurul Jain, Ashwin Dalal, Prajnya Ranganath Tags: Research Paper Source Type: research
Etiological spectrum of pediatric onset leukodystrophies and genetic leukoencephalopathies: the five-year experience of a tertiary care centre in southern India
White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiological spectrum of these disorders in the Asian Indian population. (Source: Pediatric Neurology)
Source: Pediatric Neurology - January 2, 2024 Category: Neurology Authors: Lekshmi S. Nair, Jamal Mohammed Nurul Jain, Ashwin Dalal, Prajnya Ranganath Tags: Research Paper Source Type: research
