A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition "HDR syndrome." We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter-->p13 region.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease. The two disorders were in the past considered to be distinct clinical entities; however, recent studies have proven that both diseases can result from mutations of the gene encoding cartilage oligomeric matrix protein (COMP). To characterize further COMP mutations and investigate phenotype-genotype relationships, we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA. We identified ten mutations involving conserved residues among the eight calmodulin-like repeats of the gene product: seven were novel missense mutations in exons 9, 10, 11, 13 or 14, and the other three resulted from deletion of one of the five GAC repeats in exon 13. We have found that the GAC repeats in the 7th calmodulin-like repeat in exon 13 represent a hot-spot for mutation, and that mutations in the 7th calmodulin-like repeat produce severe PSACH phenotypes while mutations elsewhere in the gene exhibit mild PSACH or MED phenotypes. These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.

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In 2020, the coronavirus disease 2019 (COVID-19) pandemic has caused unprecedented disruptions to global health systems. The Korea has taken full-fledged actions against this novel infectious disease, swiftly implementing a testing-tracing-treatment strategy. New obligations have therefore been given to the Health Insurance Review and Assessment Service (HIRA) to devote the utmost effort towards tackling this global health crisis. Thanks to the universal national health insurance and state-of-the-art information communications technology (ICT) of the Korea, HIRA has conducted far-reaching countermeasures to detect and treat cases early, prevent the spread of COVID-19, respond quickly to surging demand for the healthcare services, and translate evidence into policy. Three main factors have enabled HIRA to undertake pandemic control preemptively and systematically: nationwide data aggregated from all healthcare providers and patients, pre-existing ICT network systems, and real-time data exchanges. HIRA has maximized the use of data and pre-existing network systems to conduct rapid and responsive measures in a centralized way, both of which have been the most critical tactics and strategies used by the Korean healthcare system. In the face of new obligations, our promise is to strive for a more responsive and resilient health system during this prolonged crisis.