Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing. Here we describe the performance and impact of cGS in 247 patients from three clinics in Peru.

Differential psychophysiological responses associated with decision-making in children from different socioeconomic backgrounds.

This study examined how socioeconomic status (SES) influences on decision-making processing. The roles of anticipatory/outcome-related cardiac activity and awareness of task contingencies were also assessed. One hundred twelve children (M = 5.

Guiding Principles to Address the Impact of Algorithm Bias on Racial and Ethnic Disparities in Health and Health Care.

Importance: Health care algorithms are used for diagnosis, treatment, prognosis, risk stratification, and allocation of resources. Bias in the development and use of algorithms can lead to worse outcomes for racial and ethnic minoritized groups and other historically marginalized populations such as individuals with lower income.

Objective: To provide a conceptual framework and guiding principles for mitigating and preventing bias in health care algorithms to promote health and health care equity.

Simulation-based education improves military trainees' skill performance and self-confidence in tourniquet placement: A randomized controlled trial.

Background: Tactical Combat Casualty Care (TCCC) is the standard of care for stabilization and treatment of military trauma patients. The Department of Defense has mandated that all service members receive role-based TCCC training and certification. Simulation education can increase procedural skills by providing opportunities for deliberate practice in safe, controlled environments.

Socioeconomic status differences in children's affective decision-making: The role of awareness in the Children's Gambling Task.

Future-oriented decision-making is an important adaptive behavior. In the present study, we examined whether decision-making varies as a function of socioeconomic status (SES) using the Children's Gambling task (CGT). We administered the CGT to 227 children (49% female, 48% low SES) between the ages of 5 and 7 years.

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.

Pathogenic and likely pathogenic variants in the gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.

Effect of 90-Min Bikram Yoga on Basic Psychological Needs Among Practitioners in the Southwestern United States.

Background: In our modern society, physical activity is a lifestyle choice. Bikram Yoga is a low impact; moderate exercise and the understanding of motivation and adherence to the practice is unknown. This study aimed to evaluate the effect of 90 min Bikram Yoga practice on basic psychological needs of competence (the sense of skill mastery), autonomy (volitionally performing a task), and relatedness (a connection with others) as postulated in self-determination theory for motivation.

Comparison of Data Collection for Healthcare-Associated Infection Surveillance in Nursing Homes.

OBJECTIVE To facilitate surveillance and describe the burden of healthcare-associated infection (HAI) in nursing homes (NHs), we compared the quality of resident-level data collected by NH personnel and external staff. DESIGN A 1-day point-prevalence survey SETTING AND PARTICIPANTS Overall, 9 nursing homes among 4 Centers for Disease Control and Prevention (CDC) Emerging Infection Program (EIP) sites were included in this study. METHODS NH personnel collected data on resident characteristics, clinical risk factors for HAIs, and the presence of 3 HAI screening criteria on the day of the survey.

Glucagon-Like Peptide-1-Mediated Modulation of Inflammatory Pathways in the Diabetic Brain: Relevance to Alzheimer's Disease.

Neuroinflammation has emerged as an important cause of cognitive decline during aging and in Alzheimer's disease (AD). Chronic low-grade inflammation is observed in obesity and diabetes, which are important risk factors for AD. Therefore, we examined the markers of inflammation in the brain hippocampal samples of Zucker diabetic fatty (ZDF) rats.

Compound Transfer by Acoustic Droplet Ejection Promotes Quality and Efficiency in Ultra-High-Throughput Screening Campaigns.

Acoustic droplet ejection (ADE) as a means of transferring library compounds has had a dramatic impact on the way in which high-throughput screening campaigns are conducted in many laboratories. Two Labcyte Echo ADE liquid handlers form the core of the compound transfer operation in our 1536-well based ultra-high-throughput screening (uHTS) system. Use of these instruments has promoted flexibility in compound formatting in addition to minimizing waste and eliminating compound carryover.

The novel IKK2 inhibitor LY2409881 potently synergizes with histone deacetylase inhibitors in preclinical models of lymphoma through the downregulation of NF-κB.

Purpose: To evaluate the pharmacologic activity of a novel inhibitor of IκB kinase β (IKK2), LY2409881, in preclinical models of B- and T-cell lymphoma, as a single agent and in combination with histone deacetylase (HDAC) inhibitors.

Experimental Design: The in vitro activity of LY2409881 was determined using an ATP-based growth inhibition assay and flow cytometric assay of apoptosis in lymphoma cell lines. The in vivo activity of LY2409881 was determined using SCID-beige xenograft mouse model.

Prevalence of antimicrobial use in US acute care hospitals, May-September 2011.

Importance: Inappropriate antimicrobial drug use is associated with adverse events in hospitalized patients and contributes to the emergence and spread of resistant pathogens. Targeting effective interventions to improve antimicrobial use in the acute care setting requires understanding hospital prescribing practices.

Objective: To determine the prevalence of and describe the rationale for antimicrobial use in participating hospitals.

Small-Molecule Library Subset Screening as an Aid for Accelerating Lead Identification.

Several small-compound library subsets (14,000 to 56,000) have been established to complement screening of a larger Genentech corporate library (~1,300,000). Two validation sets (~1% of the total library) containing compounds representative of the main library were chosen by selection of plates or individual compounds. Use of these subsets guided selection of assay configuration, validated assay reproducibility, and provided estimates of hit rates expected from our full library.

Hepcidin induction by pathogens and pathogen-derived molecules is strongly dependent on interleukin-6.

Hepcidin, the iron-regulatory hormone, is increased during infection or inflammation, causing hypoferremia. This response is thought to be a host defense mechanism that restricts iron availability to invading pathogens. It is not known if hepcidin is differentially induced by bacterial versus viral infections, whether the stimulation of pattern recognition receptors directly regulates hepcidin transcription, or which of the proposed signaling pathways are essential for hepcidin increase during infection.

Induction of canonical Wnt signaling by alsterpaullone is sufficient for oral tissue fate during regeneration and embryogenesis in Nematostella vectensis.

Although regeneration is widespread among metazoa, the molecular mechanisms have been studied in only a handful of taxa. Of these taxa, fewer still are amenable to studies of embryogenesis. Our understanding of the evolution of regeneration, and its relation to embryogenesis, therefore remains limited.

Evidence for distinct pathways of hepcidin regulation by acute and chronic iron loading in mice.

Unlabelled: In response to iron loading, hepcidin synthesis is homeostatically increased to limit further absorption of dietary iron and its release from stores. Mutations in HFE, transferrin receptor 2 (Tfr2), hemojuvelin (HJV), or bone morphogenetic protein 6 (BMP6) prevent appropriate hepcidin response to iron, allowing increased absorption of dietary iron, and eventually iron overload. To understand the role each of these proteins plays in hepcidin regulation by iron, we analyzed hepcidin messenger RNA (mRNA) responsiveness to short and long-term iron challenge in iron-depleted Hfe, Tfr2, Hjv, and Bmp6 mutant mice.

Validation of the surveillance and reporting of central line-associated bloodstream infection data to a state health department.

Background: The primary goal of health care-associated infection reporting is to identify and measure progress towards achieving the irreducible minimum number of infections. Assessing the accuracy of reporting data using independent validation is critical to this goal. In January 2008, all 30 acute care hospitals in Connecticut began mandatory reporting of central line-associated bloodstream infections (CLABSI) to the National Healthcare Safety Network (NHSN) system.

Natural ventilation for the prevention of airborne contagion.

Background: Institutional transmission of airborne infections such as tuberculosis (TB) is an important public health problem, especially in resource-limited settings where protective measures such as negative-pressure isolation rooms are difficult to implement. Natural ventilation may offer a low-cost alternative. Our objective was to investigate the rates, determinants, and effects of natural ventilation in health care settings.

Richard Rodriguez and the business of caring.

Richard Rodriguez, FHFMA, brings experience with finance and operations, along with Texas-bred wisdom, to his HFMA chairmanship.

Tuberculosis mortality, drug resistance, and infectiousness in patients with and without HIV infection in Peru.

The effects of HIV co-infection and multi-drug resistant tuberculosis (MDRTB) on tuberculosis prognosis are poorly defined. Therefore, we studied infectiousness and mortality of 287 tuberculosis patients treated with standard, directly observed, short-course therapy in the Peruvian community. During 6-17 months of treatment, 49 (18%) of patients died, of whom 48 (98%) had AIDS and 28 (57%) had MDRTB; 17/31 (55%) of MDRTB-patients with AIDS died within 2 months of diagnosis, before traditional susceptibility testing would have identified their MDRTB.

Accuracy of parental and youth reporting of secondhand smoke exposure: the Florida youth cohort study.

The accuracy of adolescent and parental reports of youth secondhand smoke exposure has received limited attention in the research literature. Florida Youth Cohort Study participants provided saliva samples during the fifth round of interviews for determination of cotinine levels. After exclusion of admitted or likely youth smokers with cotinine levels>14.

The outcome consequences of defunding the Minnesota youth tobacco-use prevention program.

Objective: To assess the immediate and intermediate outcome consequences of defunding a successful tobacco use prevention program.

Methods: A four-survey repeated cross-sectional design is employed. Two surveys were completed while the program was fully operational, one after program dismantling was initiated and another about 6 months after the campaign was completely dismantled.