177 VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure

Three Austrian patients presented with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Exome sequencing revealed biallelic mutations in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein which interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen modifying enzyme LH3. Two patients showed the homozygous missense variant p.Gly131Glu, whilst one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetics and Cell Based Therapy Source Type: research

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Authors: Fernández Conesa M, Milena Muñoz A, Valero González MÁ Abstract We read with interest the article by Guido Villa-Gómez, Manuel Alejandro Mahler and Dante Manazzoni "A new case of pseudoaneurysm of the right hepatic artery secondary to laparoscopic cholecystectomy". A 57-year-old cholecystectomized female was admitted due to abdominal pain with an analytical pattern of cholestasis and liver enzyme alterations, with cholangitis that progressed to septic shock of a biliary origin with gradual anemia and hypotension. PMID: 32054281 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião CunhaAbstractBackgroundThe common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our stu...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
This study aimed to examine the knowledge, attitude, and practice (KAP) of child sexual abuse (CSA) prevention among parents of children with hearing loss. The study involved 127 pairs of parents with deaf and hard of hearing children from three special ed...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
The rural road network in Austria consists of all roads that are neither federal nor provincial roads and serve the purpose of enabling access to the rural area. This low-volume road network includes all municipal roads, farm roads, and forest roads. The t...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Engineering, Physics, Structural Soundness and Failure Source Type: news
Publication date: Available online 13 February 2020Source: CellAuthor(s): Christoph Kirst, Sophie Skriabine, Alba Vieites-Prado, Thomas Topilko, Paul Bertin, Gaspard Gerschenfeld, Florine Verny, Piotr Topilko, Nicolas Michalski, Marc Tessier-Lavigne, Nicolas RenierSummaryThe cerebral vasculature is a dense network of arteries, capillaries, and veins. Quantifying variations of the vascular organization across individuals, brain regions, or disease models is challenging. We used immunolabeling and tissue clearing to image the vascular network of adult mouse brains and developed a pipeline to segment terabyte-sized multichann...
Source: Cell - Category: Cytology Source Type: research
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Jasminka Godnic-Cvar Kidney transplantation (KTx) in end-stage renal disease is associated with a significant increase in quality of life (QoL) and self-perceived health, optimally leading to the maintenance of employment or return to work (RTW) in working-age patients. The aim of this study was to assess individual factors including the QoL and mental health of kidney transplant recipients (KTRs) associated with employment after transplantation. A cross-sectional study including working-age patients with a history of KTx after 2012 was conducted at two Austrian study centers (Vienna and Graz). Brief Symptom Invento...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
Conclusions: In conclusion, conducting clinical-trials by pharmaceutical industry - beside its importance in its own domain - results in tangible benefits and positive macroeconomic impact that contribute to the sustainability of the Austrian health-care-system by complementing its limited resources. Furthermore, it is a non-negligible factor in locational and industrial policy. PMID: 32046538 [PubMed - as supplied by publisher]
Source: Journal of Medical Economics - Category: Health Management Tags: J Med Econ Source Type: research
ConclusionsAlthough listening to the Informed Health Choices podcast initially led to a large improvement in the ability of parents to assess claims about the effects of treatments, our findings show that these skills decreased substantially over 1 year. More active practice could address the substantial skills decay observed over 1 year.Trial registrationPan African Clinical Trial Registry (www.pactr.org),PACTR201606001676150. Registered on 12 June 2016.
Source: Trials - Category: Research Source Type: clinical trials
In this study, we developed binary classification models to predict drug-induced cholestasis, cirrhosis, hepatitis, and steatosis based on the structure of drugs and their metabolites. DILI-positive data was obtained from post-market reports of drugs and DILI-negative data from DILIrank, a database curated by the Food and Drug Administration (FDA). Support vector machine (SVM) and random forest (RF) were used in developing models with nine fingerprints and one 2D molecular descriptor calculated from drug (152 DILI-positives and 102 DILI-negatives) and drug metabolite (192 DILI-positives and 126 DILI-negatives) structures. ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
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