Results 171 to 180 of about 17,977,226 (311)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Early Exposure to a Parent's Alcohol Use Disorder as an Adverse Childhood Experience: Neurobiological and Clinical Consequences in Adulthood. [PDF]

Med Sci Monit
Staszewska I, Mastej A, Mech D, Marynowski MT, Soroka EA.   +4 more
europepmc   +1 more source

Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui, Jiayang Zhan, Wei Li, Tao Jin, Dan He, Daishi Tian, Zhijun Li, Jing Lin, Yue Li, Hongyu Zhou, Bitao Bu   +10 more
wiley   +1 more source

Anxiety and depressive symptoms and health-related quality of life in girls with central precocious puberty versus isolated premature thelarche: a comparative cross-sectional study. [PDF]

Front Psychiatry
Kamış B, Özdemir Dilek S, Tarçın G.
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Mapping the landscape of early childhood development services: a global scoping review. [PDF]

BMJ Open
Amir-Behghadami M, Sadegh Tabrizi J, Heidarabadi S, Barzegar M, Nikniaz A, Azami-Aghdash S.   +5 more
europepmc   +1 more source

Alzheimer's Disease Biomarkers Measured by Capillary Blood Collection Versus Venous Plasma and Cerebrospinal Fluid

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Blood biomarkers are increasingly critical for non‐invasive Alzheimer's Disease (AD) diagnostics and research but typically require on‐site processing. Remote point‐of‐care collection methods could enhance biomarker testing in clinical and research settings.
Sara Ho, Ziling Shen, Alexandria Lewis, Megha Patel, Anny Zheng, Gianna Proscino, Thaovy Ho, Jiangxia Wang, Marilyn Albert, Abhay Moghekar   +9 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Spectrum and clinical profile of disorders of sex development: A 10 year experience at a tertiary care center. [PDF]

Pak J Med Sci
Aslam N, Aftab S, Naseer Khan B, Noor-E-Hira.   +3 more
europepmc   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source