Results 111 to 120 of about 378,748 (310)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
Mutations Of Pro30Leu And Val281Leu Of The Cyp21 Gene In Patients Diagnosed With Ambiguous Genitalia. [PDF]
, 2002 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal ...
Muhamad, Y.K. +5 more
core +1 more source
Endocrinology, Diabetes & Metabolism Case ReportsWe describe a case of a 42-year-old gentleman, 5 years post-transsphenoidal surgery (TSS) for pituitary-dependent Cushing’s disease, initially presenting with malignant hypertension.
Jack Lee +10 more
doaj +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Effects of Melatonin on the Defense to Acute Hypoxia in Newborn Lambs
Frontiers in Endocrinology, 2019 Neonatal lambs, as other neonates, have physiologically a very low plasma melatonin concentration throughout 24 h. Previously, we found that melatonin given to neonates daily for 5 days decreased heart weight and changed plasma cortisol and gene ...
Felipe A. Beñaldo +11 more
doaj +1 more source
Journal of British Surgery, 1993 Abstract Improvements in ultrasonogrpahy and computed tomography have led to the problem of ‘adrenal incidentaloma’, an asymptomatic adrenal mass discovered during investigation of some other problem. In the light of current knowledge a management rationale for patients with such an adrenal abnormality is proposed.
H, Gajraj, A E, Young
openaire +2 more sources
GTP and Ca2+ Modulate the Inositol 1,4,5-Trisphosphate-Dependent Ca2+ Release in Streptolysin O-Permeabilized Bovine Adrenal Chromaffin Cells [PDF]
, 1991 The inositol 1,4,5-trisphosphate (IP3)-induced Ca2+ release was studied using streptolysin O-permeabilized bovine adrenal chromaffin cells. The IP3-induced Ca2+ release was followed by Ca2+ reuptake into intracellular compartments.
Föhr, K. J. +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang +7 more
wiley +1 more source
The hypothalamic-pituitary-adrenal axis in critical illness [PDF]
, 1993 Plasma ACTH and cortisol concentrations are frequently elevated in patients in intensive care units (ICU). To examine the functional integrity of the hypothalamic-pituitary-adrenal axis during critical illness, we evaluated prospectively 53 ICU patients ...
Winkelmann, W. +3 more
core +1 more source