Results 191 to 200 of about 588,306 (330)

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

open access: yesJPGN Reports, EarlyView.
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

Patient‐Reported Outcomes with Selpercatinib Treatment Among Patients with RET‐Mutant Medullary Thyroid Cancer in the Phase I/II LIBRETTO‐001 Trial

open access: yesThe Oncologist, EarlyView., 2021
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

Preliminary evidence of improved liver biomarkers in adolescents with obesity and suspected metabolic dysfunction‐associated steatotic liver disease treated with semaglutide: A case series

open access: yesJPGN Reports, EarlyView.
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

Muscle Ultrasound Echo Intensity Detects Insulin Resistance Before Changes in HbA1c or Fasting Glucose, Independent of BMI

open access: yesJournal of Ultrasound in Medicine, EarlyView.
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

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

open access: yesJournal of Ultrasound in Medicine, EarlyView.
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

Revised European Society of Endocrinology Clinical Practice Guideline for the management of aggressive pituitary tumours and pituitary carcinomas

open access: green
Gérald Raverot   +13 more
openalex   +2 more sources

Value of 2‐Dimensional Shear‐Wave Elastography in Assessing Tibial Nerve Stiffness in Diabetic Peripheral Neuropathy

open access: yesJournal of Ultrasound in Medicine, EarlyView.
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

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