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https://www.readbyqxmd.com/read/29044499/identification-of-the-first-homozygous-1-bp-deletion-in-gdf9-gene-leading-to-primary-ovarian-insufficiency-by-using-targeted-massively-parallel-sequencing
#1
M M França, M F A Funari, M Y Nishi, A M Narcizo, S Domenice, E M F Costa, A M Lerario, B B Mendonca
Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. A custom SureSelect(XT) DNA target enrichment panel was designed and the sequencing was performed on Illumina NextSeq sequencer. We identified one homozygous 1-bp deletion variant (c...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29030328/studying-acute-coronary-syndrome-through-the-world-wide-web-experiences-and-lessons
#2
Angelo A Alonzo
This study details my viewpoint on the experiences, lessons, and assessments of conducting a national study on care-seeking behavior for heart attack in the United States utilizing the World Wide Web. The Yale Heart Study (YHS) was funded by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH). Grounded on two prior studies, the YHS combined a Web-based interview survey instrument; ads placed on the Internet; flyers and posters in public libraries, senior centers, and rehabilitation centers; information on chat rooms; a viral marketing strategy; and print ads to attract potential participants to share their heart attack experiences...
October 13, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28961253/improving-retention-in-hiv-care-among-adolescents-and-adults-in-low-and-middle-income-countries-a-systematic-review-of-the-literature
#3
Kate R Murray, Lisa S Dulli, Kathleen Ridgeway, Leila Dal Santo, Danielle Darrow de Mora, Patrick Olsen, Hannah Silverstein, Donna R McCarraher
INTRODUCTION: Adolescents living with HIV are an underserved population, with poor retention in HIV health care services and high mortality, who are in need of targeted effective interventions. We conducted a literature review to identify strategies that could be adapted to meet the needs of adolescents living with HIV. METHODS: We searched PubMed, Web of Science, Popline, USAID's AIDSFree Resource Library, and the USAID Development Experience Clearinghouse for relevant studies published within a recent five-year period...
2017: PloS One
https://www.readbyqxmd.com/read/28936195/diagnostic-yield-and-accuracy-of-different-metabolic-syndrome-criteria-in-adult-patients-with-epilepsy
#4
Lucas Scotta Cabral, Pedro Abrahim Cherubini, Marina Amaral de Oliveira, Larissa Bianchini, Carolina Machado Torres, Marino Muxfeldt Bianchin
INTRODUCTION: Metabolic syndrome (MetS) is an emergent problem among patients with epilepsy. Here, we evaluate and compare the diagnostic yield and accuracy of different MetS criteria among adult patients with epilepsy to further explore the best strategy for diagnosis of MetS among patients with epilepsy. MATERIALS AND METHODS: Ninety-five epileptic adults from a tertiary epilepsy reference center were prospectively recruited over 22 weeks in a cross-sectional study...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28910752/prevalence-of-metabolic-syndrome-among-elderly-mexicans
#5
María Araceli Ortiz-Rodríguez, Lucía Yáñez-Velasco, Alessandra Carnevale, Sandra Romero-Hidalgo, Demetrio Bernal, Carlos Aguilar-Salinas, Rosalba Rojas, Antonio Villa, Josep A Tur
BACKGROUND: One of the most prevalent chronic diseases among elderly population is the Metabolic Syndrome (MetS). The aim of this study was to assess the prevalence of MetS and associated factors among Mexican elderly people. SUBJECTS: Cross-sectional survey carried out in Mexico (2007). A random sample (n=516) of the elderly population (≥65years; 277 female, 239 male) was interviewed. Anthropometric and analytical measurements, and a general questionnaire incorporating questions related to socio-demographic and life-style factors were used...
November 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28837450/identifying-persistent-asthma-in-children-a-comparison-of-healthcare-effectiveness-data-and-information-set-criteria-and-national-heart-lung-and-blood-institute-guidelines
#6
Ashleigh Hall, Carol Smolij, Beth Moughan, Amer Kechli, Stephen Aronoff
Persistent asthma requires a daily controller medication. National Heart, Lung, and Blood Institute (NHLBI) guidelines and Healthcare Effectiveness Data and Information Set (HEDIS) quality measures are used to identify persistent asthma, the former method used by clinicians, and the latter by managed care organizations (MCOs). This study aims to determine the degree of agreement between these criteria in classifying pediatric persistent asthma. Asthmatic patients aged 5-18 years old in a university pediatric practice who were continuously enrolled with one MCO from January 1, 2012 to December 31, 2013 (Cohort 1: 329 patients) and January 1, 2013 to December 31, 2014 (Cohort 2: 212 patients) were identified...
August 22, 2017: Journal for Healthcare Quality: Official Publication of the National Association for Healthcare Quality
https://www.readbyqxmd.com/read/28825846/sleep-disturbance-in-smokers-with-preserved-pulmonary-function-and-chronic-obstructive-pulmonary-disease
#7
Lucas M Donovan, Peter J Rise, Shannon S Carson, Laura C Feemster, Matthew F Griffith, Vishesh K Kapur, Jerry A Krishnan, Peter K Lindenauer, Richard A Mularski, Edward T Naureckas, Brian N Palen, Elizabeth C Parsons, Laura J Spece, Michael V Vitiello, David H Au
RATIONALE: Sleep disturbance frequently affects patients with chronic obstructive pulmonary disease (COPD), and is associated with reduced quality of life and poorer outcomes. Recent data indicate that smokers with preserved pulmonary function have clinical symptoms similar to those meeting spirometric criteria for COPD, but little is known about the driving factors for sleep disturbance in this population of emerging interest. OBJECTIVES: To compare the magnitude and correlates of sleep disturbance between smokers with preserved pulmonary function and those with airflow obstruction...
August 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28820374/use-of-blood-donor-screening-to-monitor-prevalence-of-hiv-and-hepatitis-b-and-c-viruses-south-africa
#8
Marion Vermeulen, Ronel Swanevelder, Dhuly Chowdhury, Charlotte Ingram, Ravi Reddy, Evan M Bloch, Brian S Custer, Edward L Murphy
Among 397,640 first-time blood donors screened in South Africa during 2012-2015, HIV prevalence was 1.13%, hepatitis B virus prevalence 0.66%, and hepatitis C virus prevalence 0.03%. Findings of note were a high HIV prevalence in Mpumalanga Province and the near absence of hepatitis C virus nationwide.
September 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28811736/mentored-training-to-increase-diversity-among-faculty-in-the-biomedical-sciences-the-nhlbi-summer-institute-programs-to-increase-diversity-sipid-and-the-programs-to-increase-diversity-among-individuals-engaged-in-health-related-research-pride
#9
Treva K Rice, Donna B Jeffe, Josephine E A Boyington, Jared B Jobe, Victor G Dávila-Román, Juan E Gonzalez, Lisa de Las Fuentes, Levi H C Makala, Rita Sarkar, Gbenga G Ogedegbe, Anne L Taylor, Susan Czajkowski, Dabeeru C Rao, Betty S Pace, Girardin Jean-Louis, Mohamed Boutjdir
OBJECTIVE: To report baseline characteristics of junior-level faculty participants in the Summer Institute Programs to Increase Diversity (SIPID) and the Programs to Increase Diversity among individuals engaged in Health-Related Research (PRIDE), which aim to facilitate participants' career development as independent investigators in heart, lung, blood, and sleep research. DESIGN AND SETTING: Junior faculty from groups underrepresented in the biomedical-research workforce attended two, 2-3 week, annual summer research-education programs at one of six sites...
2017: Ethnicity & Disease
https://www.readbyqxmd.com/read/28797732/more-than-a-decade-follow-up-in-patients-with-severe-or-difficult-to-treat-asthma-the-epidemiology-and-natural-history-of-asthma-outcomes-and-treatment-regimens-tenor-ii
#10
Bradley E Chipps, Tmirah Haselkorn, Brandee Paknis, Benjamin Ortiz, Eugene R Bleecker, Farid Kianifard, Aimee J Foreman, Stanley J Szefler, Robert S Zeiger
BACKGROUND: The Epidemiology and Natural History of Asthma: Outcomes and Treatment Regimens (TENOR I) study demonstrated high morbidity in patients with severe or difficult-to-treat asthma despite standard-of-care treatment. OBJECTIVE: We sought to determine the long-term natural history of disease and outcomes in patients in TENOR I after more than a decade. METHODS: TENOR I was a multicenter observational study (2001-2004) of 4756 patients with severe or difficult-to-treat asthma...
August 7, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28789576/association-between-tea-and-coffee-consumption-and-prevalence-of-metabolic-syndrome-in-poland-results-from-the-wobasz-ii-study-2013-2014
#11
Agnieszka Micek, Giuseppe Grosso, Maciej Polak, Krystyna Kozakiewicz, Andrzej Tykarski, Aleksandra Puch Walczak, Wojciech Drygas, Magdalena Kwaśniewska, Andrzej Pająk
The study aimed to assess a relationship between tea and coffee consumption and metabolic syndrome (MetS). Cross-sectional study of a random sample of total Polish population was done (The WOBASZ II Study), and the present analysis included 5146 participants at age 20 years and above. Tea and coffee consumption was assessed by 24-h recall method. MetS was defined according to IDF/NHLBI/AHA criteria. After adjustment for covariates, coffee consumption was related to blood pressure and HDL cholesterol, and moderate drinkers had 17% lower odds of MetS compared with non-drinkers (OR = 0...
August 9, 2017: International Journal of Food Sciences and Nutrition
https://www.readbyqxmd.com/read/28736756/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#12
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
June 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28708421/relationship-between-race-and-the-effect-of-fluids-on-long-term-mortality-after-acute-respiratory-distress-syndrome-secondary-analysis-of-the-nhlbi-fluid-and-catheter-treatment-trial
#13
Sarah E Jolley, Catherine L Hough, Gilles Clermont, Douglas Hayden, Suqin Hou, David Schoenfeld, Nicholas L Smith, Boyd Taylor Thompson, Gordon R Bernard, Derek C Angus
RATIONALE: Short-term follow up in the Fluid and Catheter Treatment Trial (FACTT) suggested differential mortality by race with conservative fluid management, but no significant interaction. OBJECTIVE: In a post-hoc analysis of FACTT including one-year follow up, we sought to estimate long-term mortality by race and test for an interaction between fluids and race. METHODS: Post-hoc analysis of FACTT and the Economic Analysis of Pulmonary Artery Catheters (EAPAC) study (included 655 of the 1000 FACTT patients with near complete one-year follow up)...
July 14, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28689765/unanswered-questions-in-contemporary-heart-failure
#14
Lauren G Gilstrap, David Snipelisky, Omar AbouEzzeddine, Justin Vader, Lauren Cooper, Jacob Kelley, Antonio Perez, Kenneth Varian, Anuradha Lala, Monica Shah, Lynne W Stevenson
OBJECTIVE: The epidemiology of heart failure (HF) is changing. This study aimed to describe questions that arise during the routine care of HF patients that are unanswered by the current literature and describe how the type and focus of these questions has changed over time. METHODS: Investigators from the National Heart, Lung, and Blood Institute-sponsored Heart Failure Apprentice Network collected and categorized questions from 5 academic hospitals over 12 months...
October 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28687711/the-optimal-timing-of-stage-2-palliation-for-hypoplastic-left-heart-syndrome-an-analysis-of-the-pediatric-heart-network-single-ventricle-reconstruction-trial-public-dataset
#15
James M Meza, Edward J Hickey, Eugene H Blackstone, Robert D B Jaquiss, Brett R Anderson, William G Williams, Sally Cai, Glen S Van Arsdell, Tara Karamlou, Brian W McCrindle
Background -In infants requiring three-stage single ventricle palliation for hypoplastic left heart syndrome, attrition after the Norwood procedure remains significant. The effect of the timing of stage-2-palliation (S2P), a physician-modifiable factor, on long term survival is not well understood. We hypothesized that an optimal interval between the Norwood and S2P that both minimizes pre-S2P attrition and maximizes post-S2P survival exists and is associated with individual patient characteristics. Methods -The NIH/NHLBI Pediatric Heart Network Single Ventricle Reconstruction Trial public dataset was used...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28636425/american-thoracic-society-national-heart-lung-and-blood-institute-asthma-chronic-obstructive-pulmonary-disease-overlap-workshop-report
#16
Prescott G Woodruff, Maarten van den Berge, Richard C Boucher, Christopher Brightling, Esteban G Burchard, Stephanie A Christenson, MeiLan K Han, Michael J Holtzman, Monica Kraft, David A Lynch, Fernando D Martinez, Helen K Reddel, Don D Sin, George R Washko, Sally E Wenzel, Antonello Punturieri, Michelle M Freemer, Robert A Wise
Asthma and chronic obstructive pulmonary disease (COPD) are highly prevalent chronic obstructive lung diseases with an associated high burden of disease. Asthma, which is often allergic in origin, frequently begins in infancy or childhood with variable airflow obstruction and intermittent wheezing, cough, and dyspnea. Patients with COPD, in contrast, are usually current or former smokers who present after the age of 40 years with symptoms (often persistent) including dyspnea and a productive cough. On the basis of age and smoking history, it is often easy to distinguish between asthma and COPD...
August 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28634218/high-quality-statin-trials-support-the-2013-acc-aha-cholesterol-guidelines-after-hope-3-the-multi-ethnic-study-of-atherosclerosis
#17
Martin B Mortensen, Matthew J Budoff, Dong Li, Khurram Nasir, Michael J Blaha, Veit Sandfort, Carlos J Rodriguez, Pamela Ouyang, Erling Falk
The 2013 American College of Cardiology/American Heart Association (ACC/AHA) guideline on cholesterol treatment to prevent atherosclerotic cardiovascular disease (ASCVD) has been criticized for lowering the risk thresholds for primary prevention with statin therapy. Although the ≥ 7.5% (class I) and ≥ 5% (class IIa) 10-year ASCVD risk thresholds were identified as new indications for treatment by extrapolating results obtained in randomized controlled trials (RCT) of statin therapy, results from population-based European cohorts indicate that >30% of individuals eligible for statin therapy by class I recommendations do not have RCT data supporting statin efficacy...
June 20, 2017: Circulation
https://www.readbyqxmd.com/read/28633205/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#18
EDITORIAL
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, Timothy J Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group of experts from June 2 to 3, 2016, in Bethesda, Maryland, to develop NHLBI recommendations aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MCS devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
July 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28622345/the-infection-staging-and-profile-of-genotypic-distribution-and-drug-resistance-mutation-among-the-human-immunodeficiency-virus-1-infected-blood-donors-from-five-chinese-blood-centers-2012-2014
#19
MULTICENTER STUDY
Peibin Zeng, Yu Liu, Miao He, Jingxing Wang, Sheila Keating, Wei Mao, Mei Huang, Hongli Ma, Weilan He, Xinhong Bi, Dan Liao, Michael Busch, Paul Ness, Jing Liu, Hua Shan
The increasing complexity and diversity of the human immunodeficiency virus-1 (HIV-1) infections challenge the disease control and anti-retrovirus treatment in China. The infection stages and molecular characteristics of HIV-1 from infected Chinese blood donors were examined to shed light on the HIV genotype distribution and the status of drug resistance mutations (DRMs) in the changing HIV epidemic in China. Western blot (WB) confirmed HIV-1 positive plasma samples were collected from blood donors at five Chinese blood centers from April 16, 2012, through June 30, 2014...
2017: PloS One
https://www.readbyqxmd.com/read/28614402/providing-researchers-with-online-access-to-nhlbi-biospecimen-collections-the-results-of-the-first-six-years-of-the-nhlbi-biolincc-program
#20
Carol A Giffen, Elizabeth L Wagner, John T Adams, Denise M Hitchcock, Lisbeth A Welniak, Sean P Brennan, Leslie E Carroll
The National Heart, Lung, and Blood Institute (NHLBI), within the United States' National Institutes of Health (NIH), established the Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) in 2008 to develop the infrastructure needed to link the contents of the NHLBI Biorepository and the NHLBI Data Repository, and to promote the utilization of these scientific resources by the broader research community. Program utilization metrics were developed to measure the impact of BioLINCC on Biorepository access by researchers, including visibility, program efficiency, user characteristics, scientific impact, and research types...
2017: PloS One
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