Results 171 to 180 of about 119,685 (338)

Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]

open access: yes, 2016
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana   +4 more
core  

Non‐Histone Lactylation: A New Frontier in Cerebral Ischemia‐Reperfusion Injury

open access: yesMed Research, EarlyView.
ABSTRACT Reperfusion therapy is the mainstay of treatment for ischemic stroke (IS) but frequently exacerbates secondary injury. Following cerebral ischemia and hypoxia, lactate accumulates markedly. Traditionally regarded as a metabolic byproduct, lactate has gained new significance with the discovery of protein lactylation. In addition to experimental
Minghui Tang   +13 more
wiley   +1 more source

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

open access: yesMovement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi   +12 more
wiley   +1 more source

Underlying Mechanisms of the Treatment Efficacy of (R, S)‐Ketamine for Post‐Traumatic Stress Disorder and Depression: A Review

open access: yesMedicine Advances, EarlyView.
Research shows that (R, S)‐ketamine and its stereoisomers effectively reduce symptoms of post‐traumatic stress disorder (PTSD) and treatment‐resistant depression, with (R)‐ketamine offering similar benefits with fewer side effects. Evidence highlights specific neural circuits and regions, including the dentate gyrus, prefrontal cortex, vCA3, dorsal ...
Thomas Edward Cutting   +1 more
wiley   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

open access: yesPediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Inhibition of fetal adrenal 21-hydroxylase by naturally occurring steroids.

open access: bronze, 1978
Nobutaka Yoshida   +6 more
openalex   +2 more sources

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