Results 111 to 120 of about 2,000,070 (348)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

Case Report: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy

open access: yesFrontiers in Pediatrics
BackgroundHemophilia B is a rare X-linked disorder characterized by factor IX (FIX) deficiency, leading to spontaneous bleeding episodes predominantly affecting joints and muscles.
Elisa Bonetti   +9 more
doaj   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri   +7 more
wiley   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu   +11 more
wiley   +1 more source

Prognostic Implications of Sleep Architecture for Patients Admitted to the Intensive Care Unit With Status Epilepticus

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Status epilepticus (SE) is associated with significant mortality. Sleep architecture may reflect normal brain function. Impaired sleep architecture is associated with poorer outcomes in numerous conditions. Here we investigate the association of sleep architecture in continuous EEG (cEEG) with survival in SE.
Ran R. Liu   +5 more
wiley   +1 more source

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B

open access: yesJournal of Blood Medicine
Khanh Quoc Bach,1– 3 Chinh Quoc Duong,1,2 Huong Thi Bich Vu,1 Binh Thanh Ngoc Nguyen,1 Trang Thuy Nguyen,1 Mai Thi Nguyen,1 Ruoxin Li,4 Wendy Hutchison,4 Farisha Shabnam Esaq,4 Huyen Tran,5 Thanh Ha Nguyen1,3 1National Institute of Hematology and Blood ...
Bach KQ   +10 more
doaj  

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt   +5 more
wiley   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa   +10 more
wiley   +1 more source

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