Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

BACKGROUND: The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations. This database can enrich our background knowledge of worldwide blood group variant geographic distribution and identify novel variants of potential clinical significance. STUDY DESIGN AND METHODS: The 1000 Genomes database was analyzed to 1) expand knowledge about continental distributions of known blood group variants, 2) identify novel variants with antigenic potential and their geographic association, and 3) establish a baseline scaffold of chromosomal coordinates to translate next-generation sequencing output files into a predicted red blood cell (RBC) phenotype. RESULTS: Forty-two genes were investigated. A total of 604 known variants were mapped to the GRCh37 assembly; 120 of these were reported by 1000 Genomes in at least one superpopulation. All queried variants, including the ACKR1 promoter silencing mutation, are located within exon pull-down boundaries. The analysis yielded 41 novel population distributions for 34 known variants, as well as 12 novel blood group variants that warrant further validation and study. Four prediction algorithms collectively flagged 79 of 109 (72%) known antigenic or enzymatically detrimental blood group variants, while 4 of 12 variants that do not result in an altered RBC phenotype were flagged as deleterious. CONCLUSION: Next-generation sequencing has known potential for high-throughput and extended RBC phenotype prediction; a database of GRCh37 and GRCh38 chromosomal coordinates for 120 worldwide blood group variants is provided as a basis for this clinical application.

Provision of Contraception: Key Recommendations from the CDC.

The Centers for Disease Control and Prevention has released comprehensive recommendations for provision of family planning services. Contraceptive services may be addressed in five steps, and counseling may be provided in a tiered approach, whereby the most effective options are presented before less effective options. Clinicians should discuss all contraceptive methods that can be used safely by the patient, regardless of whether a method is available on site and even if the patient is an adolescent or a nulliparous woman. Physical assessment is usually limited to blood pressure evaluation before starting hormonal contraceptives or pelvic examination before placing an intrauterine device. Monitoring the patient's weight also may be helpful. If it is reasonably certain that the patient is not pregnant, any contraceptive may be started immediately. When hormonal contraceptives are selected, one year's supply should be prescribed to reduce barriers to use. Condoms should be made readily available. Documentation of visits for contraception should include patient understanding of use, benefits, and risks, plus an individualized follow-up plan. Bleeding irregularities generally are not harmful and may resolve with continued use of the contraceptive method. All patients-including adolescents; those who identify as lesbian, gay, bisexual, or transgender; and patients with disabilities or limited English proficiency-should receive high-quality care in an accommodating, nonjudgmental environment. The Centers for Disease Control and Prevention supports advance provision of emergency contraceptives. Because no test reliably verifies cessation of fertility, it is prudent to consider contraceptive use until menopause, or at least until 50 to 55 years of age.

Water envenomations and stings.

Marine envenomations are an important part of sports medicine. Marine sport is practiced widely, and many aquatic envenomations require quick recognition and timely action to ensure the safety and recovery of victims. Even a basic knowledge of treatments of various envenomations could help clinicians be more effective in acute treatment. The purpose of this article is to review known literature and expand on recent progress in the field of aquatic envenomations.

Preparticipation cardiovascular screening among National Collegiate Athletic Association Division I institutions.

BACKGROUND: Sudden cardiac arrest is the leading cause of death in competitive athletes during sport, and screening strategies for the prevention of sudden cardiac death are debated. The purpose of this study was to assess the incorporation of routine non-invasive cardiovascular screening (NICS), such as ECG or echocardiography, in Division I collegiate preparticipation examinations. METHODS: Cross-sectional survey of current screening practices sent to the head athletic trainer of all National Collegiate Athletic Association (NCAA) Division I football programmes listed in the National Athletic Trainers' Association directory. RESULTS: Seventy-four of 116 (64%) programmes responded. Thirty-five of 74 (47%) of responding schools have incorporated routine NICS testing. ECG is the primary modality for NICS in 31 (42%) of schools, and 17 (49%) also utilise echocardiography. Sixty-four per cent of the programmes that do NICS routinely screen their athletes only once as incoming freshmen. Of institutions that do not conduct NICS, American Heart Association guidelines against routine NICS and cost were the most common reasons reported. CONCLUSIONS: While substantial debate exists regarding protocols for cardiovascular screening in athletes, nearly half of NCAA Division I football programmes in this study already incorporate NICS into their preparticipation screening programme. Additional research is needed to understand the impact of NICS in collegiate programmes.

Genomic phenotype of non-cultured pulmonary fibroblasts in idiopathic pulmonary fibrosis.

Activated fibroblasts are the central effector cells of the progressive fibrotic process in idiopathic pulmonary fibrosis (IPF). Characterizing the genomic phenotype of isolated fibroblasts is essential to understanding IPF pathogenesis. Comparing the genomic phenotype of non-cultured pulmonary fibroblasts from advanced IPF patients' and normal lungs revealed novel genes, biological processes and concomitant pathways previously unreported in IPF fibroblasts. We demonstrate altered expression in proteasomal constituents, ubiquitination-mediators, Wnt, apoptosis and vitamin metabolic pathways and cell cycle regulators, suggestive of loss of cellular homeostasis. Specifically, FBXO32, CXCL14, BDKRB1 and NMNAT1 were up-regulated, while RARA and CDKN2D were down-regulated. Paradoxically, pro-apoptotic inducers TNFSF10, BAX and CASP6 were also found to be increased. This comprehensive description of altered gene expression in isolated IPF fibroblasts underscores the complex biological processes characteristic of IPF and may provide a foundation for future research into this devastating disease.

Intraosseous Specimens Submitted to the Laboratory: A Case Report and Review.

Intraosseous (IO) devices are used for vascular access in settings where venous access is initially unobtainable, such as prehospital trauma care or cardiac arrest. While IO devices are effective for infusion of blood, fluids, and medications, there is limited data on the analytical equivalence of specimens taken out of IO devices and peripheral venous blood. Despite this, IO device manufacturers and clinical resources state that IO specimens can be submitted for laboratory analysis. As reported in this case, IO specimens may be drawn and labeled as 'peripheral blood'. IO specimens are not always caught by automated sample quality testing and may proceed through analysis without any warning signal to the laboratory. There are potential regulatory risks in accepting IO samples for analysis without validation. IO infusion is a valuable technique for vascular access in critically ill patients, but clinical laboratories will need to determine their own policies for identifying and handling IO specimens.

Genetic ablation of interacting with Spt6 (Iws1) causes early embryonic lethality.

IWS1 is an RNA-polymerase II (RNAPII)-associated transcription elongation factor whose biological functions are poorly characterized. To shed some light on the function of this protein at the organismal level, we performed a systematic tissue analysis of its expression and generated Iws1-deficient mice. A thorough immunohistochemical characterization shows that IWS1 protein is present in the nucleus of all cells in most of the examined tissues, with few notable exceptions. We also report that ablation of Iws1 consistently causes lethality at the pre-implantation stage with high expression of the gene in fertilized oocytes. In summary, we are providing evidence that Iws1 is expressed in all adult organs and it is an essential gene for mouse embryonic development.

Critical Value Reporting in Transfusion Medicine: A Survey of Communication Practices in US Facilities.

OBJECTIVES: While critical value procedures have been adopted in most areas of the clinical laboratory, their use in transfusion medicine has not been reviewed in detail. The results of this study present a comprehensive overview of critical value reporting and communication practices in transfusion medicine in the United States. METHODS: A web-based survey was developed to collect data on the prevalence of critical value procedures and practices of communicating results. The survey was distributed via email to US hospital-based blood banks. RESULTS: Of 123 facilities surveyed, 84 (68.3%) blood banks had a critical value procedure. From a panel of 23 common blood bank results, nine results were selected by more than 70% of facilities as either a critical value or requiring rapid communication as defined by an alternate procedure. CONCLUSIONS: There was overlap among results communicated by facilities with and without a critical value procedure. The most frequently communicated results, such as incompatible crossmatch for RBC units issued uncrossmatched, delay in finding compatible blood due to a clinically significant antibody, and transfusion reaction evaluation suggestive of a serious adverse event, addressed scenarios associated with the leading reported causes of transfusion-related fatalities.

Following the Rules Set by Accreditation Agencies and Governing Bodies to Maintain In-Compliance Status: Applying Critical Thinking Skills When Evaluating the Need for Change in the Clinical Laboratory.

Maintaining an in-compliance clinical laboratory takes continuous awareness and review of standards, regulations, and best practices. A strong quality assurance program and well informed leaders who maintain professional networks can aid in this necessary task. This article will discuss a process that laboratories can follow to interpret, understand, and comply with the rules and standards set by laboratory accreditation bodies.

Prognostic value of the 6min walk test in bronchiolitis obliterans syndrome.

Bronchiolitis Obliterans Syndrome (BOS) complicates the course of many lung transplant recipients. It carries significant risk of morbidity and mortality, but its course is difficult to characterize. We evaluated the prognostic utility of the 6min walk test (6MWT) obtained after the onset of BOS in 42 patients. This was compared to the prognostic significance of changes in the FEV(1). The median time between the onset of BOS and the 6MWT was 109 days. The median decline in the FEV(1) from baseline to BOS onset was 25.7%, while the median change over the ensuing 3 months was 12.5%. Neither of these was predictive of subsequent mortality. The 6MWT yielded averages in the resting saturation, lowest saturation, distance walked and maximal Borg scores of 97%, 90.2%, 323m and 2.35, respectively. The best of these parameters in discriminating survival was the distance. Patients who walked further than 330m had a median survival of 1178 days versus 263 days for those who walked less (p<0.0001). We conclude that the 6MWT provides important prognostic information in patients with BOS and might perform better than spirometry. Use of this test might allow different clinical phenotypes to be discerned.