Medical school approach to manage the current COVID-19 crisis

10.1097/ACM.0000000000003425Academic Medicine9581126-112

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

10.1002/ajmg.a.31872American Journal of Medical Genetics, Part A143171960-1967AJMG

Hepatocyte Growth Factor and Retinal Arteriolar Diameter in Singapore Chinese

Objective: To assess if natural genetic variation in hepatocyte growth factor (HGF) is associated with altered retinal vessel diameter. Design: Two-stage cohort study. Participants and Controls: Discovery set (set 1, n = 682 children) and confirmatory set (set 2, n = 1293 adults). Methods: Children in the discovery set were genotyped for a panel of genetic markers within HGF. Markers that were found to be associated significantly with altered retinal vessel diameter then were genotyped in the confirmatory set. Main Outcome Measures: Increased or decreased retinal vessel diameter. Results: In the discovery set (n = 682 Chinese children aged 7 to 12 years), the variant allele of 4 HGF single nucleotide polymorphisms (SNPs) demonstrated association with larger retinal arteriolar diameter. The effect of the variant allele seems to be strongest within a recessive model of inheritance (Pmin = 4.6×10-3) for all 4 SNPs. When these 4 SNPs were assessed in a confirmatory study comprising 1293 Chinese adults, successful replication was observed for one of them (HGF +63962; rs5745752); the variant allele was observed to correlate with significantly larger retinal arteriolar diameter, with its effect again strongest within a model of recessive inheritance (P = 0.049). Analyzed as a quantitative trait, recessive carriage at HGF +63962 resulted in on average a 3.5-μm increase in retinal arteriolar diameter among children and a 2.5-μm increase in adults (P = 7.0×10-3, analysis of variance; P = 3.0×10-3, Kruskal-Wallis test). Conclusions: This study suggests that natural variation within HGF is involved in the control of retinal arteriolar diameter and may be important in the pathogenesis of microvascular disease in individuals of Chinese descent. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. © 2010 American Academy of Ophthalmology.link_to_subscribed_fulltex

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

10.1002/jimd.12238Journal of Inherited Metabolic Diseas

Severe acute respiratory syndrome

Severe acute respiratory syndrome (SARS) was caused by a previously unrecognized animal coronavirus that exploited opportunities provided by 'wet markets' in southern China to adapt to become a virus readily transmissible between humans. Hospitals and international travel proved to be 'amplifiers' that permitted a local outbreak to achieve global dimensions. In this review we will discuss the substantial scientific progress that has been made towards understanding the virus - SARS coronavirus (SARS-CoV) - and the disease. We will also highlight the progress that has been made towards developing vaccines and therapies The concerted and coordinated response that contained SARS is a triumph for global public health and provides a new paradigm for the detection and control of future emerging infectious disease threats.link_to_subscribed_fulltex