Blood group phenotypes in Taiwan

This report describes a study of 31 red cell antigens in 13 blood group systems tested over a period of 3 years in the Chinese population of Taiwan. The study provides evidence that major differences exist between Taiwanese and whites or blacks in five blood group systems: Rh, MNSs, Duffy, P, and Xg.     

Williams–Beuren syndrome: novel risk alleles in transmitting parents

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams–Beuren syndrome deletion
Cuscó et al. (2008)
Genome Research 18 (5): 683–694. Epub 21 February 2008     

A naturally occurring proline-to-alanine amino acid change in Fks1p in Candida parapsilosis, Candida orthopsilosis, and Candida metapsilosis accounts for reduced echinocandin susceptibility

Candida parapsilosis has emerged as a common cause of invasive fungal infection, especially in Latin America and in the neonatal setting. C. parapsilosis is part of a closely related group of organisms that includes the species Candida orthopsilosis and Candida metapsilosis. All three species show elevated MICs for the new echinocandin class drugs caspofungin, micafungin, and anidulafungin relative to other Candida species. Despite potential impacts on therapy, the mechanism behind this reduced echinocandin susceptibility has not been determined. In this report, we investigated the role of a naturally occurring Pro-to-Ala substitution at amino acid position 660 (P660A), immediately distal to the highly conserved hot spot 1 region of Fks1p, in the reduced-echinocandin-susceptibility phenotype. Kinetic inhibition studies demonstrated that glucan synthase from the C. parapsilosis group was 1 to 2 logs less sensitive to echinocandin drugs than the reference enzyme from C. albicans. Furthermore, clinical isolates of C. albicans and C. glabrata which harbor mutations at this equivalent position also showed comparable 2-log decreases in target enzyme sensitivity, which correlated with increased MICs. These mutations also resulted in 2.4- to 18.8-fold-reduced V(max) values relative to those for the wild-type enzyme, consistent with kinetic parameters obtained for C. parapsilosis group enzymes. Finally, the importance of the P660A substitution for intrinsic resistance was confirmed by engineering an equivalent P647A mutation into Fks1p of Saccharomyces cerevisiae. The mutant glucan synthase displayed characteristic 2-log decreases in sensitivity to the echinocandin drugs. Overall, these data firmly indicate that a naturally occurring P660A substitution in Fks1p from the C. parapsilosis group accounts for the reduced susceptibility phenotype.     

Increasing Insulin Pump Use Among 12- to 26-Year-Olds With Type 1 Diabetes: Results From the T1D Exchange Quality Improvement Collaborative

Insulin pump therapy in pediatric type 1 diabetes has been associated with better glycemic control than multiple daily injections. However, insulin pump use remains limited. This article describes an initiative from the T1D Exchange Quality Improvement Collaborative aimed at increasing insulin pump use in patients aged 12–26 years with type 1 diabetes from a baseline of 45% in May 2018 to >50% by February 2020. Interventions developed by participating centers included increasing in-person and telehealth education about insulin pump technology, creating and distributing tools to assist in informed decision-making, facilitating insulin pump insurance approval and onboarding processes, and improving clinic staff knowledge about insulin pumps. These efforts yielded a 13% improvement in pump use among the five participating centers, from 45 to 58% over 22 months.

Children and adults with type 1 diabetes receive insulin by either multiple daily subcutaneous injections or continuous subcutaneous insulin infusion, commonly called insulin pump therapy (1). Insulin pump therapy in pediatric type 1 diabetes has been associated with improved glycemic control. A 2010 Cochrane systematic review of 23 randomized, controlled trials comparing insulin pump use to multiple daily injections found a significant difference in A1C favoring insulin pump therapy (2). In a more recent meta-analysis, similar findings were seen when comparing insulin pump therapy to multiple daily injections using different types of rapid-acting and basal (i.e., intermediate and long-acting) analog insulins (3). Improved glycemic control for those using insulin pump therapy has also been reported in population-based studies. The SEARCH for Diabetes in Youth study (4), a U.S. population-based study of newly diagnosed diabetes in youths, found that participants with type 1 diabetes using insulin pump therapy had a lower mean A1C than those using other treatment regimens. Furthermore, insulin pump therapy has been associated with lower risks of severe hypoglycemia and diabetic ketoacidosis (5).Although insulin pump use has increased over time, dramatic uptake of insulin pumps has not been noted globally or even within individual countries. In the SWEET (Better Control in Pediatric and Adolescent Diabetes: Working to Create Centers of Reference) registry, 49% of 6- to 11-year-olds and 42% of 12- to 18-year-olds used insulin pumps in 2016; rates varied from 0 to 90% among 46 participating diabetes centers around the globe (6). In the U.S. T1D Exchange clinic registry, insulin pump use between 2016 and 2018 was 68% for individuals 6–12 years of age, 62% for those 13–17 years of age, and 60% for those 18–25 years of age (7), although these data may not be generalizable to the general U.S. population because of a self-selection bias of participants in this voluntary registry.In 2016, the T1D Exchange Quality Improvement Collaborative (T1DX-QI), coordinated by the T1D Exchange clinic network, was established to improve care delivery for people with type 1 diabetes (8). The collaborative started with 10 adult and pediatric diabetes centers in the United States and has expanded to 30 centers. The diabetes centers participate in collaborative quality improvement (QI) activities by sharing their clinic population data and best practices. One of the initial focuses of the T1DX-QI was to increase insulin pump use among pediatric member centers, with a subsequently developed SMART (Specific, Measurable, Applicable, Realistic, and Timely) aim of increasing pump use in pediatric and emerging adult patients aged 12–26 years with type 1 diabetes who were receiving medical care at one of five T1DX-QI diabetes centers from a baseline of 45% in May 2018 to >50% by February 2020.