Results 81 to 90 of about 75,245 (306)

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino   +6 more
doaj   +1 more source

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

open access: yes, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Laura J Chalmers   +5 more
core   +2 more sources

Therapeutic Gases in Biomedicine: Updates on Nitric Oxide and Beyond

open access: yesAdvanced Science, EarlyView.
Therapeutic gases, including NO, CO, H2S, H2, CO2, O2, and Xe, play vital roles in cellular signaling and repair. This review highlights the emerging carriers and delivery systems that enable controlled, localized gas release for diagnostic and therapeutic applications.
Syed Muntazir Andrabi   +4 more
wiley   +1 more source

Vitamin D and immunity [PDF]

open access: yes, 2014
Vitamin D deficiency has been linked to an increased risk of a wide range of adverse health outcomes. The active form of vitamin D has an important role in calcium metabolism and in bone mineralisation, but the evidence for other health outcomes is mixed,
Geldenhuys, Sian   +3 more
core   +1 more source

Dorsal Raphe VIP Neurons Are Critical for Survival‐Oriented Vigilance

open access: yesAdvanced Science, EarlyView.
DRNVIP neurons in mice and primates are strategically positioned to influence the central extended amygdala via feedback loops. They regulate the excitability of PKC‐δ neurons in the ovBNST and CeA through glutamate release. Their ablation heightens activity in these regions, disrupts active‐phase sleep architecture, enhances risk assessment behaviors ...
Adriane Guillaumin   +15 more
wiley   +1 more source

REPORT OF 285 PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AND EVALUATION OF APPROXIMATE REVALENCE OF THE DISEASE IN IRAN [PDF]

open access: yesActa Medica Iranica, 1999
In this study, 285 cases of congenital adrenal hyperplasia who were followed in the Tehran University Hospitals and Institute of Endocrinology and Metabolism arc reported. Among these cases, 165 (57.9%) were female and 120 (42.1%), male.
H. Moayeri, A.Rabbani
doaj   +2 more sources

Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]

open access: yes, 2018
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M   +5 more
core  

Lignin engineering in forest trees [PDF]

open access: yes, 2019
Wood is a renewable resource that is mainly composed of lignin and cell wall polysaccharides. The polysaccharide fraction is valuable as it can be converted into pulp and paper, or into fermentable sugars.
Alvarenga Chanoca, Alexandra   +2 more
core   +1 more source

Molecularly Engineered Phenoxazinone‐Skeleton Cascade‐Activated NIR Probes for Monitoring Fe2+/Viscosity in Ferroptosis‐Mediated Parkinson's Disease

open access: yesAdvanced Science, EarlyView.
A series of Fe2+/viscosity cascade‐activated NIR fluorescence probes (NP1–5) are synthesized, and NP3 is selected for its optimal properties. To verify application of NP3 in ferroptosis intervention in PD, PQR NPs, is constructed by NP3 and quercetin self‐assembling.
Lixia Guo   +11 more
wiley   +1 more source

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

open access: yesFrontiers in Behavioral Neuroscience, 2020
Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess.
Elisabeth Daae   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy