Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome J Clin Res Pediatr Endocrinol. 2018 Oct 23;: Authors: Maffre I, Vincenti M, Dalla Vale F, Amouroux C, Werner O, Meilhac A, de Barry G, Amedro P PMID: 30362323 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
This study supports the notion that MLL4 contributes to the functional partitioning of chromatin, which is required to determine the structure and the mechanical properties of the nucleus.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Authors: Mısırlıgil M, Yıldız Y, Akın O, Odabaşı Güneş S, Arslan M, Ünay B Abstract Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. In the physical examination, hypotonia, mild facial dysmorp...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Publication date: 2020Source: Computational and Structural Biotechnology Journal, Volume 18Author(s): Francesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, Luca Parca, Noemi Panzironi, Stefano Castellana, Viviana Caputo, Angelo Luigi Vescovi, Massimo Carella, Tommaso Mazza
Source: Computational and Structural Biotechnology Journal - Category: Biotechnology Source Type: research
Publication date: Available online 25 July 2020Source: Computational and Structural Biotechnology JournalAuthor(s): Francesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, Luca Parca, Noemi Panzironi, Stefano Castellana, Viviana Caputo, Angelo Luigi Vescovi, Massimo Carella, Tommaso Mazza
Source: Computational and Structural Biotechnology Journal - Category: Biotechnology Source Type: research
7:39 a.m. That’s the time that your smartphone’s sonar deems as optimal for you to wake up today. With its gentle vibration from your bedside table, you pick it up to turn off the smart alarm. As you do so, your phone asks for your permission to use the built-in sensors and camera to run your routine morning scan. It analyzes your voice; evaluates your stress level based on a facial scan; checks your vital signs; and notifies you to take a picture of that mole on your forearm in order to detect any anomalies.  Thereafter, it outputs a comprehensible report with recommendations which you can send over to...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Artificial Intelligence E-Patients Health Sensors & Trackers Telemedicine & Smartphones stress health trackers Huntington's Alzheimer's disease covid19 camera apple health google fit WHO hemoglobin SpO2 Samsung oximetry F Source Type: blogs
We report RNA-seq from mouse E14.25 WT and KMT2D neural crest cell knockout palatal shelves
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
CONCLUSIONS: Despite the apparent incremental yield of prenatal exome sequencing in congenital heart disease, the routine application of such a policy would require the adoption of robust bioinformatic, clinical and ethical pathways. Whilst the greatest yield is with multi-system anomalies, consideration may also be given to performing ES in the presence of isolated cardiac abnormalities. This article is protected by copyright. All rights reserved. PMID: 32388881 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Background: Kabuki syndrome is caused by heterozygous mutations in the KMT2D or KDM6A genes and has an incidence of 1:30,000 live births. Typical features include craniofacial dysmorphism, fetal finger pads, congenital cardiac defects, hearing deficits, immune deficiency, poor feeding, growth delay, and developmental delay. Hyperinsulinism is a common but under-appreciated feature of Kabuki syndrome.
Source: Journal of Pediatric Nursing - Category: Nursing Authors: Source Type: research
Contributors : Su J Lim ; Sung M Youn ; Sangsoo Kim ; Jae W LeeSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusIn humans, inactivating mutations in MLL4, which encodes a histone H3-lysine 4-methyltrasferase, lead to Kabuki syndrome (KS). While dwarfism is a cardinal feature of KS, the underlying etiology remains unclear. Here we report that Mll4 is a critical regulator of the development of growth hormone-releasing hormone (GHRH)-producing neurons in the hypothalamus. The two distinct Mll4 mutant mouse models exhibited dwarfism, accompanied by impairment of developmental...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
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