Results 191 to 200 of about 588,306 (330)
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth +10 more
wiley +1 more source
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects 30%–40% of youth with obesity and lacks approved pharmacologic therapies. In this single‐center retrospective case series at a tertiary care safety‐net children's hospital, we evaluated five adolescents (mean age: 17.0 years; 100% Hispanic; 60% male; mean body mass index:
Rachel Schenker +3 more
wiley +1 more source
MECHANISMS IN ENDOCRINOLOGY: Kidney involvement in patients with primary hyperparathyroidism: an update on clinical and molecular aspects [PDF]
Chiara Verdelli, Sabrina Corbetta
openalex +1 more source
Objectives To quantify the association between skeletal muscle echo intensity (MEI), measured by ultrasound, and clinical markers of insulin resistance and glycemic control, and evaluate MEI's diagnostic accuracy in identifying insulin resistance. Methods In this cross‐sectional study, 20 adults with obesity (mean body mass index [BMI] 34.4 ± 2.6 kg/m2,
Steven B. Soliman +8 more
wiley +1 more source
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du +8 more
wiley +1 more source
Objectives The morphological alterations of the tibial nerve in patients with diabetes mellitus, both with and without diabetic peripheral neuropathy (DPN), are challenging to differentiate using B‐mode ultrasound. In this study, we assessed the stiffness changes of the tibial nerve by 2‐dimensional shear‐wave elastography (2D‐SWE). Methods We gathered
Jiafan Li +4 more
wiley +1 more source

