Striking adrenal glands enlargement in a patient with 21-hydroxylase deficiency during stress: a case report [PDF]
Chengcheng Zheng +2 more
openalex +1 more source
Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]
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
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
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency. [PDF]
V.T. Innanen, J M Vale
openalex +1 more source
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
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
URINARY PREGNANETRIOLONE EXCRETION BEFORE AND AFTER ACTH STIMULATION IN PARENTS OF CHILDREN WITH 21-HYDROXYLASE DEFICIENCY++ [PDF]
J. Homoki, A.T.A. Fazekas, W. Teller
openalex +1 more source
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
Regulation of Insulin Secretion Through Long‐Chain Fatty Acid Receptors
iNew Medicine, EarlyView.
Stefan Offermanns
wiley +1 more source
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
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.
Nobutaka Yoshida +6 more
openalex +2 more sources

