Cardiovascular disease in non-classic Pompe disease: A systematic review
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.10.009
Abstract: Pompe disease is a rare inherited metabolic and neuromuscular disorder, presenting as a spectrum, with the classic infantile form on one end and the more slowly progressive non-classic form on the other end. While being… read more here.
Keywords: non classic; classic pompe; pompe disease; disease ... See more keywords
Sertoli-Leydig cell tumour in a patient with non-classic congenital adrenal hyperplasia: an uncommon duo
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-230691
Abstract: Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural… read more here.
Keywords: adrenal hyperplasia; non classic; congenital adrenal; tumour patient ... See more keywords
Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
Sign Up to like & getrecommendations! Published in 2022 at "Archives of endocrinology and metabolism"
DOI: 10.20945/2359-3997000000437
Abstract: Objective CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier… read more here.
Keywords: cyp21a2; non carriers; pathogenic variant; non classic ... See more keywords
The Concept of Structural Law and the Methodology of Structuralism in Non-classic Science
Sign Up to like & getrecommendations! Published in 2020 at "Voprosy Filosofii"
DOI: 10.21146/0042-8744-2020-1-74-84
Abstract: In epistemology the law is mainly considered in general as a particular form of the scientific knowledge. In the paper an attempt is undertaken to substantiate that at the stage of non-classic science the aim… read more here.
Keywords: methodology; structural law; law; classic science ... See more keywords
1124-P: Clinical and Genetic Models Assess the Probability of Type 1 Diabetes (T1D) among Patients with Nonclassic Diabetes Features
Sign Up to like & getrecommendations! Published in 2021 at "Diabetes"
DOI: 10.2337/db21-1124-p
Abstract: Objective: Develop and assess the performance of clinical/genetic models for quantifying the probability of T1D among diabetes patients with non-classic features. Research Design and Methods: Subjects were defined as having classic features of T1D (ICD… read more here.
Keywords: probability; classic features; clinical genetic; non classic ... See more keywords
Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1022752
Abstract: Background Treated or untreated non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. We aimed to explore the interaction between muscle-to-fat… read more here.
Keywords: body composition; non classic; risk; study ... See more keywords
Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1048663
Abstract: Context The 250µg-cosyntropin stimulation test (CST) is used to diagnose non-classic congenital adrenal hyperplasia (NCCAH). The current recommendation is to perform CST when follicular 17-hydroxyprogesterone (17OHP) is 6-30 nmol/L, a cutoff derived from radioimmunoassay (RIA).… read more here.
Keywords: non classic; ria; classic congenital; cst ... See more keywords
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1064024
Abstract: Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired… read more here.
Keywords: adrenal hyperplasia; non classic; treatment; congenital adrenal ... See more keywords
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.947762
Abstract: Background Lipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). Non-classic LCAH is defined as late-onset glucocorticoid deficiency and even complete… read more here.
Keywords: adrenal hyperplasia; classic lcah; non classic; lipoid congenital ... See more keywords
Dexamethasone application for in vitro fertilisation in non-classic 17-hydroxylase/17,20-lyase-deficient women
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.971993
Abstract: Context High progesterone levels in the follicular stage interfere with the implantation window, causing infertility in women with 17-hydroxylase/17,20-lyase deficiency (17OHD). Dexamethasone can restore cortisol deficiency and suppress inappropriate mineralocorticoid secretion to control hypertension in… read more here.
Keywords: hydroxylase lyase; day; progesterone; non classic ... See more keywords
A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1148318
Abstract: Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive… read more here.
Keywords: adrenal hyperplasia; non classic; prader willi; classic congenital ... See more keywords