Results 121 to 130 of about 57,073 (302)

A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region

, 1990
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital adrenal hyperplasia (CAH), has been conducted in Campania Region, Southern Italy.
VARRONE, STELIO, R. Valentino, R. Rossi, LOMBARDI, GAETANO, A.P. Tommaselli   +4 more
core  

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Subchronic Exposure to Arsenic and Nickel Triggers Nitrosative Stress and Histological Alterations in the Rat Liver

Journal of Applied Toxicology, EarlyView.
ABSTRACT Environmental exposure to heavy metals poses a threat to human health. Several studies documented harmful effects on the liver after arsenic and nickel exposure at concentrations beyond permissible limits. Nevertheless, the impact of a simultaneous exposure to both elements on hepatic biochemistry and histology remains unelucidated. Therefore,
Thainá Iasbik‐Lima, Luiz Otávio Guimarães‐Ervilha, Isabela Pereira da Silva Bento, Renê Chagas da Silva, Mariana Machado‐Neves   +4 more
wiley   +1 more source

Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment

, 2003
Increase in serum androgen levels results in suppression of serum leptin levels. In this study, the changes in serum leptin concentrations of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) with respect to ...
Darendeliler, Fatma Feyza, GUNOZ, Hülya, POYRAZOGLU, S   +2 more
core   +1 more source

46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?

, 2007
46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to
Cora, Tulin, Pirgon, Ozgur, Atabek, Mehmet Emre, Acar, Hasan   +3 more
core  

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

, 2018
Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.Conclusions: The writing committee presents updated best practice guidelines for the ...
Arlt, W., Miller, W. L., Conway, G. S., Baskin, L. S., Merke, D. P., Oberfield, S. E., Murad, M. H., Speiser, P. W., White, P. C., Auchus, R. J., Meyer-Bahlburg, H. F.   +10 more
core   +1 more source

Binuclear Copper‐Dependent Oxidative Enzymes Involved in Fungal Natural Product Modifications

Journal of the Chinese Chemical Society, EarlyView.
This article summarizes recent biochemical characterizations of a new enzyme family named by the authors as binuclear copper‐dependent oxidative enzymes (BiNCOs). Found in fungal natural product biosynthesis, BiNCOs catalyze diverse CH functionalization reactions, including C(sp3)H halogenation, C(sp3)H hydroxylation, C(sp3)O macrocyclization, and ...
Chen‐Yu Chiang, Masao Ohashi, Yi Tang
wiley   +1 more source

Congenital Adrenal Hyperplasia in The Bahamas due to 21-Hydroxylase Deficiency

, 2006
Objective: To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder. Methods: Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for ...
P Sandiford, S Peter, T Smith, G McDigean   +3 more
core  

Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers

Movement Disorders, EarlyView.
ABSTRACT Background Dopa‐responsive dystonia is caused by pathogenic variants in the GCH1 gene. Although its clinical features and reduced penetrance are known, in vivo metabolic and structural alterations in symptomatic (sMC) and asymptomatic mutation carriers (aMC) remain poorly understood.
Jannik Prasuhn, Leon van Well, Marta M. Pokotylo, Feline Hamami, Joke‐Lina Aßmann, Katja Lohmann, Maximilian G. Ködderitzsch‐Mertins, Julia Henkel, Jan Uter, Alexander Münchau, Christine Klein, Anne Weissbach, Norbert Brüggemann   +12 more
wiley   +1 more source

Ferroptosis and Its Emerging Role in Gestational Diabetes Mellitus

Medicine Advances, EarlyView.
Ferroptosis contributes to the development of gestational diabetes mellitus (GDM) through iron overload, lipid peroxidation, and antioxidant system disruption. These changes impair adipocyte and β‐cell function, promoting insulin resistance and hyperglycemia.
Jinfeng Xu, Yuan Tian, Hongbin Zhu, Bing Peng, Chunheng Mo   +4 more
wiley   +1 more source