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     

Genetic Variation in the Peroxisome Proliferator‐Activated Receptor (PPAR) and Peroxisome Proliferator‐Activated Receptor Gamma Co‐activator 1 (PGC1) Gene Families and Type 2 Diabetes

We used a two‐stage study design to evaluate whether variations in the peroxisome proliferator‐activated receptors (PPAR) and the PPAR gamma co‐activator 1 (PGC1) gene families (PPARA, PPARG, PPARD, PPARGC1A, and PPARGC1B) are associated with type 2 diabetes (T2D) risk. Stage I used data from a genome‐wide association study (GWAS) from Shanghai, China (1019 T2D cases and 1709 controls) and from a meta‐analysis of data from the Asian Genetic Epidemiology Network for T2D (AGEN‐T2D). Criteria for selection of single nucleotide polymorphisms (SNPs) for stage II were: (1) P < 0.05 in single marker analysis in Shanghai GWAS and P < 0.05 in the meta‐analysis or (2) P < 10^?3 in the meta‐analysis alone and (3) minor allele frequency ≥ 0.10. Nine SNPs from the PGC1 family were assessed in stage II (an independent set of middle‐aged men and women from Shanghai with 1700 T2D cases and 1647 controls). One SNP in PPARGC1B, rs251464, was replicated in stage II (OR = 0.87; 95% CI: 0.77–0.99). Gene‐body mass index (BMI) and gene–exercise interactions and T2D risk were evaluated in a combined dataset (Shanghai GWAS and stage II data: 2719 cases and 3356 controls). One SNP in PPARGC1A, rs12640088, had a significant interaction with BMI. No interactions between the PPARGC1B gene and BMI or exercise were observed.     

An official American Thoracic Society workshop report: features and measurements of experimental acute lung injury in animals

Acute lung injury (ALI) is well defined in humans, but there is no agreement as to the main features of acute lung injury in animal models. A Committee was organized to determine the main features that characterize ALI in animal models and to identify the most relevant methods to assess these features. We used a Delphi approach in which a series of questionnaires were distributed to a panel of experts in experimental lung injury. The Committee concluded that the main features of experimental ALI include histological evidence of tissue injury, alteration of the alveolar capillary barrier, presence of an inflammatory response, and evidence of physiological dysfunction; they recommended that, to determine if ALI has occurred, at least three of these four main features of ALI should be present. The Committee also identified key "very relevant" and "somewhat relevant" measurements for each of the main features of ALI and recommended the use of least one "very relevant" measurement and preferably one or two additional separate measurements to determine if a main feature of ALI is present. Finally, the Committee emphasized that not all of the measurements listed can or should be performed in every study, and that measurements not included in the list are by no means "irrelevant." Our list of features and measurements of ALI is intended as a guide for investigators, and ultimately investigators should choose the particular measurements that best suit the experimental questions being addressed as well as take into consideration any unique aspects of the experimental design.     

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.     

Nicardipine for hypertensive emergencies in children with renal disease

Hypertensive emergencies secondary to renal diseases were treated with nicardipine in three children. Nicardipine is the first intravenously administered dihydropyridine calcium channel blocker. Its physiological actions include vasodilation, with limited effects on the chronotropic and inotropic function of the myocardium. Nicardipine, starting at 5 μg/kg per min and then continued at a maintenance infusion of 1 – 3 μg/kg per min, effectively controlled the mean arterial pressure in the three patients. Apart from occasional superficial thrombophlebitis in a fourth patient, no adverse effects were noted. Received February 26, 1997; received in revised form July 14, 1997; accepted July 16, 1997