Results 31 to 40 of about 75,245 (306)

Non-skeletal activities of vitamin d: From physiology to brain pathology [PDF]

, 2019
Vitamin D is a secosteroid hormone regulating the expression of almost 900 genes, and it is involved in the regulation of calcium and phosphate metabolism, immune response, and brain development.
Bruna Lo Sasso, Chiara Bellia, Concetta Scazzone, Giorgia Iacolino, Giulia Bivona, Luisa Agnello, Marcello Ciaccio   +6 more
core   +1 more source

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

Ожирение и метаболизм, 2019
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova   +4 more
doaj   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia ...
Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj   +21 more
doaj   +1 more source

Nonclassical 21-Hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2006
AbstractContext: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews,
openaire   +1 more source

Vitamin D, a modulator of musculoskeletal health in chronic kidney disease [PDF]

, 2017
The spectrum of activity of vitamin D goes beyond calcium and bone homeostasis, and growing evidence suggests that vitamin D contributes to maintain musculoskeletal health in healthy subjects as well as in patients with chronic kidney disease (CKD ...
Jordi Bover, Juan J. Carrero, null null, Pablo Molina, Pablo Ureña Torres, Philippe Chauveau, Sandro Mazzaferro   +6 more
core   +2 more sources

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Case Reports in Medicine, 2009
We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen, Ivar Følling, Kjetil Vegge, Arne Larmo, Bjørn Gunnar Nedrebø, Eystein Sverre Husebye, Kristian Løvås   +6 more
doaj   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source

Parathyroid localization [PDF]

, 1986
Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B., Gutekunst, R., Hafermann, W., Kiffner, E., Löhrs, U., Scriba, Peter Christian, Thies, E., Valesky, A.   +7 more
core   +1 more source