Results 21 to 30 of about 17,291 (255)

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

BMC Research Notes, 2019
Objective Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome.
Vipula Kolli, Hannah Kim, Hamsini Rao, Qizong Lao, Alison Gaynor, Joshua D. Milner, Deborah P. Merke   +6 more
doaj   +1 more source

El empleo especializado de la preposición con en el español moderno

A&H, 2017
En este trabajo se presenta el análisis diacrónico del empleo de la preposición con en frases construidas con verbos de dirección (Dixon, 1991) + con + una meta o fuente humana: voy a casa con tu mamá y vengo de con tu mamá.
María Luisa Álvarez Medina
doaj   +2 more sources

Newborn Screening in Pediatric Endocrine Disorders

Endocrines, 2022
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes.
Martin Draznin, Preeti Borgohain, Shibani Kanungo   +2 more
doaj   +1 more source

Two Flavones as Markers for the Distinction of Natural Acacia Honey Based on the UHPLC-QE-MS Method and Research on Their Potential Immunomodulatory Activity. [PDF]

Food Sci Nutr
This study systematically compared the quality characteristics and immunomodulatory activities of natural and commercial honey. A comprehensive strategy combining physicochemical determination, SPE‐UPLC‐Q‐Exactive Orbitrap MS‐based metabolomics, and machine learning‐assisted chemometrics was established to screen differential biomarkers. Hesperetin and
Wang B, Hua M, Liu Y, Li M, Zhang N, Wu Y, Gao Q, Sun H, Dai Y, Zhou M, Zhou Q.   +10 more
europepmc   +2 more sources

Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia

Endocrine Connections
Background: Prednisolone and prednisone are recommended treatment options for adults with congenital adrenal hyperplasia (CAH); however, there is no randomised comparison of prednis(ol)one with hydrocortisone.
Aled Daffyd Rees, Deborah P Merke, Wiebke Arlt, Aude Brac De La Perriere, Angelica Linden-Hirschberg, Anders Juul, John Newell-Price, Alessandro Prete, Nicole Reisch, Nike M Stikkelbroeck, Philippe A Touraine, Alex Lewis, John Porter, Helen Coope, Richard J Ross   +14 more
doaj   +1 more source

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

JCRPE, 2023
INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis.
Marianne Jacob, Karen Lin-Su, Corinne Catarozoli, Charlene Thomas, Dix Poppas, Oksana Lekarev   +5 more
doaj   +1 more source

Should CAH in Females Be Classified as DSD? [PDF]

Frontiers in Pediatrics, 2016
Great controversies and misunderstandings have developed around the relatively recently coined term disorders of sex development (DSD). In this article, we question the wisdom of including XX individuals with congenital adrenal hyperplasia (CAH) in the DSD category and develop arguments against it based on the published literature on the subject. It is
Ricardo eGonzález, Barbara Magda Ludwikowski   +1 more
openaire   +3 more sources

Aminothiol supported dialdehyde cellulose for efficient and selective removal of Hg(II) from aquatic solutions

Scientific Reports, 2023
The increasingly serious problem of mercury pollution has caused wide concern, and exploring adsorbent materials with high adsorption capacity is a simple and effective approach to address this concern.
Aya G. Mostafa, Eslam A. Gaith, Magda A. Akl   +2 more
doaj   +1 more source

PERSPECTIVE: Treatment with hydrocortisone modified-release capsules in children and adolescents with congenital adrenal hyperplasia: an expert opinion

Endocrine Connections
Recommended treatment for classic congenital adrenal hyperplasia (CAH) in children is hydrocortisone. This therapy is intended to replace cortisol deficiency, but also to reduce the increased production of androgens and their precursors.
U Neumann, O Blankenstein, H L Claahsen-van der Grinten   +2 more
doaj   +1 more source

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

BMC Endocrine Disorders, 2022
Background Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account ...
Tiantian Cheng, Jing Liu, Wenwen Sun, Guangyao Song, Huijuan Ma   +4 more
doaj   +1 more source