Results 61 to 70 of about 119,945 (311)

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

open access: yesCase Reports in Medicine, 2009
We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen   +6 more
doaj   +1 more source

Management of 21 hydroxylase deficiency salt-wasting form of congenital adrenal hyperplasia

open access: yesSri Lanka Journal of Diabetes Endocrinology and Metabolism, 2012
 DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4186 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 28-29   
KSH de Silva
doaj   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

open access: yes, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source

Soft Neural Interfaces for Circuit‐Level Analysis of Magnetogenetic Deep Brain Stimulation in Parkinson's Disease Models

open access: yesAdvanced Healthcare Materials, EarlyView.
ABSTRACT Magnetogenetic deep brain stimulation (MG‐DBS) represents a wireless neuromodulation that has demonstrated long‐lasting behavioral benefits in Parkinson's disease models. However, the circuit‐level mechanisms underlying these therapeutic effects have remained uncharacterized due to limitations of conventional neural interfaces.
Jakyoung Lee   +10 more
wiley   +1 more source

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

open access: yesBMC Endocrine Disorders, 2018
Background Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death.
Helmuth G. Dörr   +4 more
doaj   +1 more source

Are Steroid Hormones Dysregulated in Autistic Girls?

open access: yesDiseases, 2020
Evidence of altered cholesterol and steroid hormones in autism is increasing. However, as boys are more often affected, evidence mainly relates to autistic males, whereas evidence for affected autistic girls is sparse.
Benedikt Andreas Gasser   +3 more
doaj   +1 more source

Designed Liquid Crystalline Nanoassemblies From Clinically Validated Polyunsaturated Lipids for Combined Antioxidant, Anti‐Apoptotic, and Neurotrophic Treatments

open access: yesAdvanced Healthcare Materials, EarlyView.
Ionizable lipid nanoparticles target multiple pathological pathways in neurodegeneration. The designed self‐assembled materials undergo a pH‐triggered structural transformation from a cubosome/hexosome coexistence to a hexosome phase, enhancing intracellular delivery of a multi‐target phytochemical formulation. The antioxidant‐loaded pH‐responsive LNPs
Thelma Akanchise   +4 more
wiley   +1 more source

Non‐Invasive Brain Targeted Delivery of Cannabidiol for Alleviating Neuroinflammatory Disease

open access: yesAdvanced Materials, EarlyView.
The glucose‐functionalized nanoparticles (GNPs) are developed for the brain‐targeted delivery of cannabidiol (CBD). GNPs bypass the blood‐brain barrier (BBB) via glucose transporter‐1 (GLUT‐1) and release CBD in response to reactive oxygen species (ROS).
Yibin Wang   +7 more
wiley   +1 more source

Emergence of highly profibrotic and proinflammatory Lrat+Fbln2+ HSC subpopulation in alcoholic hepatitis

open access: yesHepatology, EarlyView., 2022
Lrat+ quiescent hepatic stellate cells (qHSC) give rise to Lrat+Fbln2+ activated HSC (aHSC) in alcohol‐associated hepatitis and this subpopulation is highly profibrotic, inflammatory, and immunoregulatory based on their single cell transcriptomic profile. Abstract Background and Aims Relative roles of HSCs and portal fibroblasts in alcoholic hepatitis (
Steven Balog   +12 more
wiley   +1 more source

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

open access: yesJournal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni   +2 more
doaj   +1 more source

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