Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Conclusion This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Graphical abstract
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research

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Conclusion: Based on shared epidemiological and biological features, B-cell acute lymphoblastic leukemia with t(5;14)(q31;q32) is a peculiar subset of IGH-rearranged B-cell acute lymphoblastic leukemia with an intermediate prognosis and particular clinical features related to eosinophilia.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionsComplement and genetic studies are now routinely recommended for patients with a histopathological diagnosis of C3G. Careful interpretation of these studies and their prognostic and therapeutic implications in conjunction with biopsy findings is needed to further understand the pathophysiology of this rare disease in children.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research
France's health and environment agency said on Monday it was banning dozens of glyphosate-based weedkillers, most of the volume of such products sold in France, ruling there was insufficient data to exclude health risks.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Abeona Therapeutics announced that the U.S. FDA has removed its clinical hold on the company ’s pivotal Phase 3 clinical trial evaluating gene therapy for the treatment of recessive dystrophic epidermolysis bullosa (RDEB).
Source: - Category: Pharmaceuticals Source Type: news
Merck entered into a $2.7 billion deal Monday to buy ArQule Inc., a Massachusetts-based biopharmaceutical company developing targeted therapies for cancer and rare diseases. Under the terms of the cash deal, which still requires regulatory and shareholder approval, Merck (NYSE: MRK) will pay $20 per share to ArQule (NASDAQ: ARQL) stockholders. The offer is more than a 100% premium over the $9.66 share price ArQule closed at on Friday. Based in Kenilworth, New Jersey , Merck has a large presence…
Source: Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Treating the emotional and behavioral problems that lead to criminal behavior is one of the keys to helping veterans get—and stay—out of the criminal justice system. The post From Combat to Counseling: Veterans and the criminal justice system appeared first on Counseling Today.
Source: Counseling Today - Category: Psychiatry & Psychology Authors: Tags: Counseling Today Online Exclusives From Combat to Counseling Offenders Source Type: research
Officials in Asbestos, Quebec, have been struggling for years to develop a new identity for the small Canadian mining town. Changing its name might do the trick. Mayor Hugues Grimard announced recently that his town in southeastern Quebec is looking for a name change in 2020, believing it could spark a much-needed economic recovery. The natural link between the town’s name and the toxic mineral — once so compelling — has become a roadblock to any future development. Exposure to asbestos can lead to deadly diseases, including mesothelioma cancer. “There is really a negative perception around asbestos...
Source: Asbestos and Mesothelioma News - Category: Environmental Health Authors: Source Type: news
Authors: Weimer DL, Moberg P, French F, Tanner-Smith EE, Finch AJ Abstract BACKGROUND: Recovery high schools (RHS) provide a supportive educational and therapeutic environment for students subsequent to treatment for substance use disorders (SUDs). Most students served by RHSs have concurrent mental health disorders and are at risk for school failure or dropout and substance use relapse. AIMS OF THE STUDY: The central question addressed is whether RHSs are economically efficient alternatives to other high school settings for students in recovery. The aim is to estimate the incremental cost-benefit of RHSs. ...
Source: Journal of Mental Health Policy and Economics - Category: Psychiatry Tags: J Ment Health Policy Econ Source Type: research
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Discussion One-third of the selected guidelines do not report any NMS therapy recommendations. Most guidelines mentioning the NMS do not provide therapy recommendations that include all relevant treatment options. The results show a very high heterogeneity, and the recommendations and statements are of low-evidence levels. The lack of knowledge about the NMS and its treatment may delay the onset of therapy, impair the quality of treatment, and lead to a worse outcome or death. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents&nb...
Source: Pharmacopsychiatry - Category: Psychiatry Authors: Tags: Review Source Type: research
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