Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Mutations of theCYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). TheCYP21A2 gene is partially overlapped by theTNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles ofTNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions ofCYP21A2 that extend intoTNXB, resulting in a “contiguous gene syndrome” consisting of CAH and EDS. Heterozygosity forTNXB mutations causing haploinsufficiency of TNX may be associated with the mild “hypermobility form” of EDS, which principally affects small and large joints. Studies of patients with salt-wasting CAH found that up to 10% had clinical features of EDS, associated joint hypermobility, haploinsufficiency of TNX and heterozygosity forTNXB mutations, now called “CAH-X.” These patients have joint hypermobility and a spectrum of other comorbidities associated with their connective tissue disorder, including chronic arthralgia, joint subluxations, hernias, and cardiac defects. Other disorders are beginning to be associated with TNX deficiency, including f amilial vesicoureteral reflux and neurologic disorders. Further work is needed to delineate the full spectrum of TNX-deficient disorders, with and without associated CAH.Horm Res Paediatr
Publication date: Available online 9 October 2020Source: Journal of OrthopaedicsAuthor(s): K. Siddarth Kamath, K.N. Jayakrishna, Ashwath Acharya, Anil K. Bhat
Publication date: Available online 9 October 2020Source: Microbiological ResearchAuthor(s): Akhilesh Kumar, Saurabh Singh, Arpan Mukherjee, Rajesh Prasad Rastogi, Jay Prakash Verma
Publication date: 25 February 2021Source: Journal of Alloys and Compounds, Volume 855, Part 1Author(s): Leyuan Li, Yanchen Liu, Haobin Yu, Ruiting Sun, Zhiyu Ding, Kaikai Li, Qunhui Yuan, Junwei Wu, Xingjun Liu
ConclusionsGradient washout has not been widely reported in humans, although it has been observed in the mammalian kidneys after prolonged polyuria. Although not a problem with aquaporin protein expression or production, gradient washout causes a different type of secondary nephrogenic diabetes insipidus because the absence of a medullary gradient impairs water reabsorption. We report a case of an infant who developed complex water and sodium imbalances after brain injury. Prolonged polyuria resulting from both water and solute diuresis with low enteral protein intake was thought to cause a urea gradient washout and second...
Publication date: January 2021Source: Nano Energy, Volume 79Author(s): Fyodor Malchik, Netanel Shpigel, Mikhael D. Levi, Tirupathi Rao Penki, Bar Gavriel, Gil Bergman, Meital Turgeman, Doron Aurbach, Yury Gogotsi
Publication date: Available online 8 October 2020Source: LWTAuthor(s): Dariusz Dziki, Grażyna Cacak-Pietrzak, Waleed Hameed Hassoon, Urszula Gawlik-Dziki, Alicja Sułek, Renata Różyło, Danuta Sugier
Authors: Cantore S, Inchingolo AD, Xhajanka E, Altini V, Bordea IR, Dipalma G, Inchingolo F PMID: 33025783 [PubMed - in process]
A vortex-assisted liquid-liquid microextraction method combined with high performance liquid chromatography-diode array detector has been developed for the determination of parabens in foods, cosmetics and pharmaceutical products. In this work, polymeric deep eutectic solvents composed of DL-menthol and polyethylene glycol with three different light grades were prepared successfully for the first time and used as extraction solvents. The influencing parameters on the extraction efficiency including type of extraction solvent, salt addition, composition of deep eutectic solvent, volume of extraction solvent, extraction time...
J. Anal. At. Spectrom., 2020, Advance Article DOI: 10.1039/D0JA00325E, PaperFilipa R. F. Simoes, Edy Abou-Hamad, Jan Kamenik, Jan Ku čera, Pedro M. F. J. Costa Borate fusion as an ICP-OES digestion method of carbon nanotubes. To cite this article before page numbers are assigned, use the DOI form of citation above. The content of this RSS Feed (c) The Royal Society of Chemistry
Publication date: Available online 8 October 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Elize W. Lockhorst, Jasper van der Slegt, Eelco J. Veen, Dagmar I. Vos