A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.

A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction. Eur J Med Genet. 2020 Mar 30;:103923 Authors: Ekinci F, Yildizdas RD, Horoz OO, Herguner O, Bisgin A Abstract Intrauterine infections with the pathogens, including toxoplasmosis, other (syphilis, varicella, mumps, parvovirus, and HIV), rubella, cytomegalovirus, and herpes simplex (TORCH) in susceptible individuals during pregnancy, result in microcephaly, white matter disease, cerebral atrophy, and calcifications in the fetus. Pseudo-TORCH syndrome is an umbrella term, consisting of several syndromes, resultant from different genetic alterations and pathogenetic mechanisms. Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is one of these conditions, resultant from biallelic mutations in the OCLN gene, located in the chromosome 5q13.2. OCLN gene encodes occludin, a tight junction protein, which is expressed in the endothelia. The absence of occludin in the developing brain subsequently results in abnormal blood-brain barrier, thus immune-cell mediated tissue damage and cortical malformation. Herein, we present a pediatric patient who had progressive microcephaly, spasticity, multi-drug resistant epilepsy, PMG and intracranial band-type calcifications, accompanied by central diabetes insipidus and renal dysfunction. Whole exome sequencing revealed a ho...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

Related Links:

Abstract OBJECTIVE: to analyze the social conditions and life projects of non-pregnant adolescents, pregnant adolescents and pregnant women who are victims of domestic violence. METHODS: This is a exploratory, descriptive and comparative study of a quantitative and qualitative character. Ninety adolescents between 12 and 18 years old participated in the study, consisting of three groups: Group A (30 non-pregnant adolescents with no history of violence); Group B (30 pregnant adolescents with no history of violence); and Group C (30 pregnant adolescents with a history of violence). The tools used were a questio...
Source: Revista Brasileira de Enfermagem - Category: Nursing Authors: Tags: Rev Bras Enferm Source Type: research
Authors: Al-Rawahi A PMID: 32489679 [PubMed]
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
Authors: Yahaya TO, Ufuoma SB Abstract Single gene mutations have been implicated in the pathogenesis of a form of diabetes mellitus (DM) known as the maturity-onset diabetes of the young (MODY). However, there are diverse opinions on the suspect genes and pathophysiology, necessitating the need to review and communicate the genes to raise public awareness. We used the Google search engine to retrieve relevant information from reputable sources such as PubMed and Google Scholar. We identified 14 classified MODY genes as well as three new and unclassified genes linked with MODY. These genes are fundamentally embedde...
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
Publication date: Available online 3 June 2020Source: Social Science &MedicineAuthor(s): Christina A. Laurenzi, Sarah Skeen, Bronwyne J. Coetzee, Sarah Gordon, Vuyolwethu Notholi, Mark Tomlinson
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Abstract Objective: Autoimmune conditions tend to cluster in subjects with Addison's disease (AD) and probably also among their relatives. The aim of the study was to estimate the frequency of the endocrine gland-specific autoantibodies in first-degree relatives of patients with AD. Methods: Autoantibodies were investigated in 113 family members using RIA and ELISA assays. The control group comprised 143 age-matched volunteers. Results: Autoimmune diseases were diagnosed in 38.1% relatives. Hashimoto's thyroiditis was found in 20.3%, Graves' disease in 8.0%, vitiligo and type 1 diabetes in 3.5%, whereas ...
Source: European Journal of Endocrinology - Category: Endocrinology Authors: Tags: Eur J Endocrinol Source Type: research
Publication date: Available online 3 June 2020Source: SeizureAuthor(s): Maria Teresa Faria, Ricardo Rego, Helena Rocha, Francisca Sá, Rui Farinha, Ana Oliveira, Pedro Barata, Dílio Alves, Jorge Pereira, Francisco Rocha-Gonçalves, Hernâni Gonçalves, Elisabete Martins
Source: Seizure - Category: Neurology Source Type: research
Publication date: Available online 3 June 2020Source: Brain StimulationAuthor(s): Bornali Kundu, Tyler S. Davis, Brian Philip, Elliot H. Smith, Amir Arain, Angela Peters, Blake Newman, Christopher R. Butson, John D. Rolston
Source: Brain Stimulation - Category: Neurology Source Type: research
Fitbit is continuing its rapid trajectory into the medtech industry with a new Emergency Use Authorization from FDA. The San Francisco, CA-based company said the EUA is for a low-cost emergency ventilator to help address patients’ needs during the COVID-19 pandemic. The company said after seeing the need for ventilators, it applied its deep in-house expertise in advanced sensor development and hardware design to quickly create Fitbit Flow, an automatic resuscitator inspired by the MIT E-Vent Design Toolbox and based on specifications for Rapidly Manufactured Ventilation Systems. Fitbit said during develop...
Source: MDDI - Category: Medical Devices Tags: COVID-19 Business Source Type: news
CONCLUSIONS: Pregnant women are overweight/obese, with a mean age of 30.9 years and are socially vulnerable. Pregnant women with chronic hypertension are older and have a higher number of abortions. PMID: 32491150 [PubMed - as supplied by publisher]
Source: Revista gaucha de enfermagem EENFUFRGS - Category: Nursing Tags: Rev Gaucha Enferm Source Type: research
Publication date: Available online 3 June 2020Source: Pharmacological ResearchAuthor(s): Ana Margarida da Silva Figueiredo, Ermelindo Carreira Leal, Eugénia Maria Lourenço de Carvalho
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
More News: Bed Wetting | Brain | Cold Sores | Cytomegalovirus | Diabetes | Diabetes Insipidus | Endocrinology | Enuresis | Epilepsy | Genetics | Herpes | Mumps | Neurology | Parvovirus | Pediatrics | Pregnancy | Rubella | Syphilis