Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics & The NIH Genetic Testing Registry

Video Podcast (CC)Presented by: Office of Rare Diseases Research, the National Eye Institute, National Institute of Mental Health, and the NIH Office of DirectorAired date: 4/4/2013 2:00:00 PM Eastern Time
Source: Videocast Podcasts - Category: Journals (General) Authors: Tags: Health Source Type: video

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Publication date: Available online 21 July 2018Source: Journal of Visceral SurgeryAuthor(s): L. Billiauws, L. Maggiori, F. Joly, Y. PanisSummaryShort bowel syndrome (SBS) is a rare disease, resulting from extensive resection of the small intestine. Depending on the severity of malabsorption, it will lead to intestinal failure, defined as the reduction of gut function below the minimum necessary for the absorption of macronutrients and/or water and electrolytes, resulting in a situation where intravenous supplementation is required. The risk of developing intestinal failure is related to the remaining length of small intest...
Source: Journal of Visceral Surgery - Category: Surgery Source Type: research
We report a case of 12 years old boy who presented to our clinic with biopsy showing adipocyte entrapment which we believe is an unrecognized key pathological finding in diagnosis of this entity.
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Extraordinary Case Report Source Type: research
Conclusion: In the management of idiopathic scrotal calcinosis, factors that determine acceptance of surgical treatment could include impaired quality of life, reduced self-esteem, fear of future sexual dysfunction, and development of complications. PMID: 30022844 [PubMed]
Source: Clinical, Cosmetic and Investigational Dermatology - Category: Dermatology Tags: Clin Cosmet Investig Dermatol Source Type: research
ConclusionA national dedicated call center for management of severe hereditary angioedema attacks is associated with a decrease in hospital admissions and may be cost-effective if facilities and staff are available to deliver the intervention alongside existing services.
Source: Annals of Emergency Medicine - Category: Emergency Medicine Source Type: research
Maria Kamusheva, Manoela Manova, Alexandra T. Savova, Guenka I. Petrova, Konstantin Mitov, Andr ás Harsányi, Zoltán Kaló, Kristóf Márky, Pawel Kawalec, Bistra Angelovska, Dragana Lakić, Tomas Tesar, Pero Draganic, Mary Geitona, Magdalini Hatzikou, Marian S. Paveliu, Agnes Männik
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
ConclusionsThese data strongly implicateSOX17 as a new risk gene contributing to PAH-CHD as well as idiopathic/familial PAH. Replication in other PAH cohorts and further characterization of the clinical phenotype will be important to confirm the precise role ofSOX17 and better estimate the contribution of genes regulated by SOX17.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progr...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. Patients with the diffuse disease variant often require near-total surgical removal of...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality. Outcome...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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