Results 191 to 200 of about 16,203 (292)

Disruption of macrophage cell volume drives inflammatory responses and type I interferon signaling. [PDF]

open access: yesJ Cell Biol
Cook JR   +7 more
europepmc   +1 more source

Functional constipation in children and young adults with Prader–Willi syndrome

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce   +3 more
wiley   +1 more source

Cardiovascular Catastrophe in Hysteroscopic Surgery: A Case of Diagnostic Dilemma, Arrest, and Recovery. [PDF]

open access: yesCureus
Atlapure B   +7 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan   +14 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

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