Results 51 to 60 of about 19,718 (218)

Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

BMC Endocrine Disorders, 2021
Background Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid ...
Zhuoguang Li, Yan Liang, Caiqi Du, Xiao Yu, Ling Hou, Wei Wu, Yanqing Ying, Xiaoping Luo   +7 more
doaj   +1 more source

Cytokine‐Engineered Chimeric Antigen Receptor‐T Cell Therapy: How to Balance the Efficacy and Toxicity

Advanced Science, EarlyView.
Cytokine‐engineered CAR‐T cells represent a promising immunotherapy against malignancies due to direct tumor killing and potent immunity response. However, significant toxicities, including CRS and ICANS, have restricted clinical applications. How to keep the risk‐benefit balance of the advanced therapy is of great importance for maximizing the benefit
Xinru Zhang, Gulizeba Aimaiti, Yuanye Guan, Yuzhe Sha, Wei Zhou, Jiefeng Shen, Bo Zhao, Wei‐En Yuan   +7 more
wiley   +1 more source

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source

Biosynthetic approach to combine the first steps of cardenolide formation in Saccharomyces cerevisiae

MicrobiologyOpen, 2019
A yeast expression plasmid was constructed containing a cardenolide biosynthetic module, referred to as CARD II, using the AssemblX toolkit, which enables the assembly of large DNA constructs.
Christoph Rieck, Daniel Geiger, Jennifer Munkert, Katrin Messerschmidt, Jan Petersen, Juliane Strasser, Nadine Meitinger, Wolfgang Kreis   +7 more
doaj   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis [PDF]

Journal of Clinical and Diagnostic Research
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors.
Dinkar Yadav, Poonam Dalal, Kapil Bhalla, Geeta Gathwala   +3 more
doaj   +1 more source

Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
Context: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls.
Adina F, Turcu, Juilee, Rege, Robert, Chomic, Jiayan, Liu, Hiromi K, Nishimoto, Tobias, Else, Andreas G, Moraitis, Ganesh S, Palapattu, William E, Rainey, Richard J, Auchus   +9 more
openaire   +2 more sources

Mapping molluscan endocrinology: a systematic and critical appraisal

Biological Reviews, EarlyView.
ABSTRACT Historically, a vertebrate‐centric paradigm has framed our interpretation of molluscan endocrinology, with considerable research focusing on vertebrate‐type steroid hormones (e.g. oestrogens, testosterone). However, contradictory evidence on the occurrence of vertebrate‐type steroid hormones in molluscan tissues, and a lack of the specific ...
Konstantinos Panagiotidis, Thomas H. Miller, Olwenn V. Martin, Alice Baynes   +3 more
wiley   +1 more source

Sentience in cephalopod molluscs: an updated assessment

Biological Reviews, EarlyView.
ABSTRACT This article evaluates the evidence for sentience – the capacity to have feelings – in cephalopod molluscs: octopus, cuttlefish, squid, and nautilus. Our framework includes eight criteria, covering both whether the animal's nervous system could support sentience and whether their behaviour indicates sentience.
Alexandra K. Schnell, Heather Browning, Andrew Crump, Charlotte C. Burn, Jonathan Birch   +4 more
wiley   +1 more source

Improvement in semen parameters by switching steroids in a male congenital adrenal hyperplasia patient with severe oligozoospermia

Urology Case Reports, 2023
Congenital adrenal hyperplasia (CAH) causes hypogonadotropic hypogonadism due to the excessive production of adrenal androgens, which results in hypospermatogenesis in some male patients.
Atsushi Onishi, Keisuke Okada, Katsuya Sato, Yasuhiro Kaku, Koji Chiba, Masato Fujisawa   +5 more
doaj   +1 more source