Disruption of macrophage cell volume drives inflammatory responses and type I interferon signaling. [PDF]
Cook JR +7 more
europepmc +1 more source
Functional constipation in children and young adults with Prader–Willi syndrome
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]
Atlapure B +7 more
europepmc +1 more source
Mitotic chromatin compaction tethers extrachromosomal DNA to chromosomes and prevents their mis-segregation into micronuclei. [PDF]
Yang LM.
europepmc +1 more source
A Quality Improvement Project on Optimising Intravenous Maintenance Fluid Prescribing in Surgical Patients. [PDF]
Tan JX, Tan HM, Sasapu K.
europepmc +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
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
Non-uniform impact of extracellular osmotic variations at subcellular level. [PDF]
Singh P, Mittal A.
europepmc +1 more source
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
Cell swelling and upright mounting-based imaging for high-resolution visualization of intracellular trafficking across the BBB using conventional confocal microscopy. [PDF]
Oh DH, Kang JH, Lee OH, Ko YT.
europepmc +1 more source
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

