Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
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
Potential for Misinterpretation in the Laboratory Diagnosis of <i>Clostridioides difficile</i> Infections. [PDF]
Kalacheva A +6 more
europepmc +1 more source
Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani +8 more
wiley +1 more source
Challenges in laboratory diagnosis and antibiotic treatment options for a newly described Pseudomonas aeruginosa class A beta-lactamase type GES-62 strain. [PDF]
Pham TT +20 more
europepmc +1 more source
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
Laboratory Diagnosis of Hendra and Nipah: Two Emerging Zoonotic Diseases with One Health Significance. [PDF]
van den Hurk S, Yondo A, Velayudhan BT.
europepmc +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Update on the Laboratory Diagnosis of Lupus Anticoagulant: Current Challenges and Clinical Involvement. [PDF]
Marco-Rico A.
europepmc +1 more source
Clinical and Laboratory Diagnosis of Legionella Pneumonia. [PDF]
Bai L, Yang W, Li Y.
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source

