Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics & The NIH Genetic Testing Registry
Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics &The NIH Genetic Testing RegistryPresented by: Office of Rare Diseases Research, the National Eye Institute, National Institute of Mental Health, and the NIH Office of DirectorCategory: BiospecimensAired date: 04/04/2013
Conclusion: Overall, and even though we must account for the limitations of the indirect methods and models used for prevalence estimation, we probably have a very high ALS/MND prevalence in Portugal. It would be important to create registries, particularly in rare diseases, for better organization and distribution of healthcare services and resources, particularly at the level of ventilatory support.Neuroepidemiology
Calciphylaxis, most commonly diagnosed in patients with end-stage renal disease (ESRD) but also affecting patients with normal renal function, is a devastating disease characterized by the development of ischemic skin lesions and associated with substantial patient morbidity and high 1-year mortality rates. Calciphylaxis was thought to be a rare disease; however, in recent years, reports and publications on the topic have increased. Whether this increase is due to a rise in incidence or improved recognition is unclear. Calciphylaxis is primarily a clinical diagnosis, made by the presence of livedoid skin changes or retifor...
Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.
This article discusses the mechanisms involved in the pathogenesis of CS and the pros and the cons of the various antihypertensive agents that are presently available to treat these patients.
We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.
supporting studies that advance rare disease product development
Acromegaly is a rare disease with vocal changes being a common clinical finding. The authors present a very rare case of an opera singer with undetected acromegaly for years, whose tessiture progressively changed from tenor, to baritone, to bass. We analyze the evolution of vocal parameters over the years and the outcome after surgical treatment.
ConclusionsWe found a high willingness-to-pay for innovative drugs in oncology and hematology. The wide range of responses observed, however, indirectly implies a lack of consensus on the use of explicit ICER thresholds in Bulgaria.
Conclusion: Automated detection of macular diseases from OCT images might be feasible using the CNN model. Image augmentation might be effective to compensate for a small image number for training. PMID: 31093370 [PubMed]