Results 201 to 210 of about 2,243,935 (268)

Changes in the epidemiology of paediatric brain abscess in China: a nationwide study during the years 2016-2023. [PDF]

Eur J Pediatr
Dou Z, Wang X, Kang X, Feng G, Ma L, Tang Y, Guo L, Hu B, Chen T, Liu G.   +9 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Behavioral Changes in Children Are Uncommon 4 Weeks After Procedural Sedation and Analgesia With Intranasal Dexmedetomidine and Nitrous Oxide. [PDF]

Paediatr Neonatal Pain
Nikula A, Ryd-Rinder M, Lundeberg S, Lääperi M, Castrén M, Kurland L.   +5 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Decoding Preschool Social Dynamics: Automated Tracking of Spatial and Temporal Patterns to Investigate Social Interactions and Relationships in Peer Groups. [PDF]

Dev Sci
Markova G, Arato J, Ceral R, Hofbauer M, Quigley C, Horn L.   +5 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Combining Treatment of Acute Malnutrition With Integrated Community Case Management: A Cluster-Randomised Controlled Trial (SETiPlus). [PDF]

Matern Child Nutr
Cronin G, Jelle M, Ali S, Siciid Y, Abdillahi Y, Omer M, Mahdi AY, Ibrahim SA, Scholfield L, Keane E, Ahmed KA, Seal A.   +11 more
europepmc   +1 more source

Predicting elevated transcranial doppler velocity among patients with sickle cell anemia in Uganda: A cross-sectional study. [PDF]

PLoS One
Nayiga D, Mukunya D, Odoch S, Oguttu F, Munabi I, Musaba MW, Kimbugwe C, Makoko BT, Babuya J, Mugabi J, Nyalihama A, Chebet M, Rynn L, Kizito S, Ssentumbwe V, Kiguli S, Olupot PO.   +16 more
europepmc   +1 more source

"You have to wait for a diagnosis first": Barriers to preventive mental health support and early interventions for children and young people in Sweden. [PDF]

PLoS One
Törnbom K, Hange D, Petersson EL, Svenningsson I.   +3 more
europepmc   +1 more source