Results 91 to 100 of about 34,718 (245)

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

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

Background Level of Pops in Ground Water Assessed on Chemical and Toxicity Analysis of Exposed Semipermeable Membrane Devices

Air, Soil and Water Research, 2009
Persistent compounds are present around almost the entire world. The level of contamination in very old groundwater sources (Cennoman bedrock Mesozoic, approximately 100 millions year old) was assessed.
Vladimír Kočí, Tomáš Ocelka, Roman Grabic   +2 more
doaj   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source

Persistent organic pollutants in global surface soils: Distributions and fractionations

Environmental Science and Ecotechnology
The distribution and fractionation of persistent organic pollutants (POPs) in different matrices refer to how these pollutants are dispersed and separated within various environmental compartments.
Yi-Fan Li, Shuai Hao, Wan-Li Ma, Pu-Fei Yang, Wen-Long Li, Zi-Feng Zhang, Li-Yan Liu, Robie W. Macdonald   +7 more
doaj   +1 more source

Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

Steam pops during irrigated radiofrequency ablation: feasibility of impedance monitoring for prevention

, 2008
BACKGROUND: Steam pops are a risk of irrigated radiofrequency catheter ablation (RFA) and may cause cardiac perforation. Data to guide radiofrequency (RF) energy titration to avoid steam pops are limited.
Stevenson, William G, Raymond, Jean-Marc, Delacretaz, Etienne, Vest, John, Seiler, Jens, Roberts-Thomson, Kurt C   +5 more
core   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Triangular Index Ratio as an Alternative Method to the Alpha Angle for Defining the Presence of Cam Morphology: A Prospective Cohort Study

Arthritis Care &Research, EarlyView.
Objective Cam morphology, which is a significant risk factor for hip osteoarthritis, is commonly quantified by the alpha angle (AA). This study aims to explore the potential of the triangular index ratio (TIR) to quantify cam morphology on anteroposterior radiographs by assessing the association between TIR‐defined cam morphology and the development of
Jinchi Tang, Fleur Boel, Michiel M. A. van Buuren, Noortje S. Riedstra, Myrthe A. van den Berg, Jos Runhaar, Sita Bierma‐Zeinstra, Rintje Agricola   +7 more
wiley   +1 more source