Results 101 to 110 of about 75,903 (304)
The Turkish Journal of Pediatrics, 2012 Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol.
Abdulmoein E Al-Agha +2 more
doaj
The Pathophysiology and Treatment of Hypertension in Patients With Cushing's Syndrome [PDF]
, 2019 When hypertension, a pathology that is frequently found in the general population, presents in a young patient, secondary causes such as Cushing's syndrome (CS), a rare disease characterized by long-term elevated cortisol levels, should be considered ...
Barbot, Mattia +2 more
core +1 more source
Porcine kidney xenotransplantation: From primate models to clinical reality
Animal Models and Experimental Medicine, EarlyView.In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo +3 more
wiley +1 more source
Frontiers in EndocrinologyIntroductionChildren and young adults with congenital adrenal hyperplasia (CAH) are at increased risk of obesity and insulin resistance. There is evidence that children with CAH have increased visceral adiposity, which has been linked to metabolic ...
Jennifer Apsan +5 more
doaj +1 more source
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2019 The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
Duarte Pignatelli +10 more
doaj +1 more source
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]
, 2002 Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman) +2 more
core +2 more sources
Annals of Neurology, EarlyView.Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng +3 more
wiley +1 more source
Acta Chimica Slovenica, 2016 Extraadrenal enzymes such as CYP2C19 may participate in residual 21-hydroxylation of progesterone leading to milder phenotypes of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Among 94 21OHD patients 28 were homozygous or
Urh Grošelj +5 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2019 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz +5 more
doaj +1 more source
Not Judging by Appearances: The Role of Genotype in Jewish Law on Intersex Conditions [PDF]
, 2012 Jewish communities have always had children with intersex conditions, which involve atypical anatomic, chromosomal, or gonadal sex. In the last several decades, Orthodox rabbis have issued ad hoc rulings to assign sex to children and adults with intersex
Hillel Gray
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