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https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#1
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29145541/variations-in-adipor1-but-not-adipor2-are-associated-with-hypertriglyceridemia-and-diabetes-in-an-admixed-latin-american-population
#2
Gustavo Gustavo Mora-García, María S Ruiz-Díaz, Fabian Espitia-Almeida, Doris Gómez-Camargo
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial...
July 2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/29145355/disparities-in-state-specific-adult-fruit-and-vegetable-consumption-united-states-2015
#3
Seung Hee Lee-Kwan, Latetia V Moore, Heidi M Blanck, Diane M Harris, Deb Galuska
The 2015-2020 Dietary Guidelines for Americans recommend that Americans consume more fruits and vegetables as part of an overall dietary pattern to reduce the risk for diet-related chronic diseases such as cardiovascular disease, type 2 diabetes, some cancers, and obesity (1). Adults should consume 1.5-2.0 cup equivalents of fruits and 2.0-3.0 cups of vegetables per day.* Overall, few adults in each state met intake recommendations according to 2013 Behavioral Risk Factor Surveillance System (BRFSS) data; however, sociodemographic characteristics known to be associated with fruit and vegetable consumption were not examined (2)...
November 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29145308/comparison-of-the-pentax-airwayscope-and-mcgrath-mac-videolaryngoscope-for-endotracheal-intubation-in-patients-with-a-normal-airway
#4
Jiyoung Lee, Hyun Jeong Kwak, Ji Yeon Lee, Min Young Chang, Sook Young Lee, Jong Yeop Kim
Various videolaryngoscopes (VLs) have been developed to provide a better laryngeal view and facilitate difficult intubations. The goal of this study was to compare 2 VLs, the Pentax AWS and the McGrath VL, with respect to intubation time and ease of intubation.One hundred forty patients aged 19 to 65 years (American Society of Anesthesiologists classification I or II), who required tracheal intubation for elective surgery, were randomly assigned to 1 of the 2 groups: the Pentax AWS (n = 70) or the McGrath VL (n = 70)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145020/evaluation-of-7-be-and-133-xe-atmospheric-radioactivity-time-series-measured-at-four-ctbto-radionuclide-stations
#5
Stefano Bianchi, Alessandro Longo, Wolfango Plastino, Pavel P Povinec
Time series analysis of (7)Be and (133)Xe atmospheric data and meteorological parameters measured at four CTBTO/IMS radionuclide stations have shown great variability in terms of noise structures, harmonic content, cross-correlation patterns and local Hurst exponent behaviour. This study focused on highlighting and characterising both differences and similarities expected for these radionuclides due to their different physical and chemical characteristics along with their different source terms. Detrended crosscorrelation analysis of different meteorological parameters influencing the residuals time series has shown that for Canadian and American stations the parameters mostly affecting radionuclide concentrations in the air seem to be wind direction and atmospheric pressure...
November 2, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/29144963/translation-and-validation-of-pediatric-quality-of-life-inventory%C3%A2-3-0-diabetes-module-pedsql%C3%A2-3-0-diabetes-module-in-brazil-portuguese-language
#6
Leila F Dos S Garcia, Thais Della Manna, Caroline de Gouveia Buff Passone, Lygia Spassapan de Oliveira
OBJECTIVE: The aim of the present study was to create a translated version of the Pediatric Quality of Life Inventory™ 3.0 Diabetes Module (PedsQL™ 3.0 Diabetes Module) in Brazilian Portuguese that was conceptually equivalent to the original American English version and to linguistically validate it in a Brazilian pediatric population with type 1 diabetes mellitus and their parents or caregivers. METHODS: The instrument was translated, back-translated, and then administered to 83 children/adolescents (5-18 years) with type 1 diabetes mellitus and their family members and to 25 parents/caregivers of patients aged between 2 and 4 years...
November 13, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29144960/cervical-cancer-screening-experiences-among-chinese-american-immigrant-women-in-the-united-states
#7
Jin Young Seo, Junxin Li, Kun Li
OBJECTIVE: To understand the experiences and perceptions of having cervical cancer screening tests and to explore the extant barriers to having the tests among first-generation Chinese American women in the United States. DESIGN: Qualitative, descriptive, phenomenological research. SETTING: Los Angeles, California. PARTICIPANTS: Snowball and purposive sampling of 12 Chinese American immigrant women ages 20 to 65 years...
November 13, 2017: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
https://www.readbyqxmd.com/read/29144881/improving-graduation-rates-for-african-americans-in-drug-court-importance-of-human-relationships-and-barriers-to-gaining-and-sustaining-employment
#8
John Robert Gallagher, Anne Nordberg, Alyssa R Dibley
Drug courts have been an important part of the criminal justice system since 1989. They continue to expand throughout the United States because nearly three decades of research has shown that they are more effective than other interventions, such as traditional probation. There is a pattern, though, in some drug courts where African Americans are less likely to graduate than their Caucasian counterparts. This qualitative study explores this phenomenon by asking African American participants (n = 31) their views on the most helpful aspects of drug court and how drug court could be more helpful in supporting them in graduating the program...
November 16, 2017: Journal of Ethnicity in Substance Abuse
https://www.readbyqxmd.com/read/29144866/challenges-in-the-clinical-application-of-the-american-society-of-clinical-oncology-value-framework-a-medicare-cost-benefit-analysis-in-chronic-lymphocytic-leukemia
#9
Erlene K Seymour, Charles A Schiffer, Jonas A de Souza
PURPOSE: The ASCO Value Framework calculates the value of cancer therapies. Given costly novel therapeutics for chronic lymphocytic leukemia, we used the framework to compare net health benefit (NHB) and cost within Medicare of all regimens listed in the National Comprehensive Cancer Network (NCCN) guidelines. METHODS: The current NCCN guidelines for chronic lymphocytic leukemia were reviewed. All referenced studies were screened, and only randomized controlled prospective trials were included...
November 16, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/29144857/a-review-of-tribal-best-practices-in-substance-abuse-prevention
#10
Allyson Kelley, Morgan Witzel, Bethany Fatupaito
American Indian youth experience higher rates of substance use than non-American Indian youth. Researchers, clinicians, and treatment programs embrace evidence-based practices (EBPs) and practice based evidence (PBE) as a primary method for addressing substance abuse and advancing behavioral health. However, less is known about the use of tribal best practices (TBPs) and how they are implemented in American Indian substance use prevention contexts. OBJECTIVE: The main objective of this systematic review was to determine how TBPs are implemented and shared in the context of tribal substance use prevention...
November 16, 2017: Journal of Ethnicity in Substance Abuse
https://www.readbyqxmd.com/read/29144848/watching-the-evolution-of-the-american-family-amazon-s-transparent-ecological-systems-theory-and-the-changing-dynamics-of-public-opinion
#11
Amy B Becker, Maureen E Todd
Using Bronfenbrenner's (1979) ecological systems theory as an organizing framework, the research closely examines the text of the Amazon Studios hit show, Transparent, and by extension the evolution of public opinion towards transgender individuals. By examining the Pfefferman family in detail and their related microsystem and macrosystem, we are able to closely unpack the transition of Jeffrey Tambor's character from Mort to Maura and the show's connections with broader developments in the Los Angeles LGBT community and the Jewish diaspora in postwar and contemporary Los Angeles...
November 16, 2017: Journal of Homosexuality
https://www.readbyqxmd.com/read/29144811/concordance-of-preoperative-clinical-stage-with-pathological-stage-in-patients-%C3%A2-45-years-with-well-differentiated-thyroid-cancer
#12
Natalie A Calcatera, Waseem Lutfi, Paritosh Suman, Nicholas R Suss, Chi-Hsiung Wang, Richard A Prinz, David J Winchester, Tricia A Moo-Young
OBJECTIVE: Clinical stage (cStage) in thyroid cancer determines extent of surgical therapy and completeness of resection. Pathologic stage (pStage) is an important determinant of outcome. The rate of discordance between clinical and pathologic stage in thyroid cancer is unknown. METHODS: The National Cancer Data Base (NCDB) was queried to identify 27,473 patients ≥45 years old with cStage I through IV differentiated thyroid cancer undergoing surgery from 2008-2012...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29144541/genetic-landscape-of-papillary-thyroid-carcinoma-in-the-chinese-population
#13
Jialong Liang, Wanshi Cai, Dongdong Feng, Huajing Teng, Fengbiao Mao, Yi Jiang, Shanshan Hu, Xianfeng Li, Yujie Zhang, Baoguo Liu, Zhong Sheng Sun
Improvement in the clinical outcome of human cancers requires characterization of genetic alterations underlying their pathogenesis. Large-scale genomic and transcriptomic characterization of papillary thyroid carcinomas (PTCs) in Western populations has revealed multiple oncogenic drivers which are essential for understanding pathogenic mechanisms of this disease; while so far, the genetic landscape in Chinese patients with PTC remains uncharacterized. Here, we conducted a largescale genetic analysis of PTCs from patients in China to determine the mutational landscape of this cancer...
November 16, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29144511/evaluating-charge-syndrome-in-congenital-hypogonadotropic-hypogonadism-patients-harboring-chd7-variants
#14
Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild, Christian De Geyter, Christa Flück, Katrin Feller, Deborah Bartholdi, Attila Nemeth, Irene Halperin, Sandra Pekic Djurdjevic, Philippe Maeder, Georgios Papadakis, Andrew A Dwyer, Laura Marino, Lucie Favre, Duarte Pignatelli, Nicolas J Niederländer, James Acierno, Nelly Pitteloud
PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined.MethodsRare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29144433/the-influence-of-family-dog-ownership-and-parental-perceived-built-environment-measures-on-children-s-physical-activity-within-the-washington-dc-area
#15
Jennifer D Roberts, Lindsey Rodkey, Cortney Grisham, Rashawn Ray
Sedentary behavior and physical inactivity are significant contributors to youth obesity in the United States. Neighborhood dog walking is an outlet for physical activity (PA). Therefore, understanding the relationship between built environment, dog ownership, and youth PA is essential. This study examined the influence of dog ownership and parental built environment perceptions on children's PA in the Washington, D.C. area. In 2014, questionnaires were mailed to 2000 parents to assess family dog ownership; children's outdoor dog walking or playing; and parental perceived built environment measures...
November 16, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29144404/dietary-magnesium-and-incident-frailty-in-older-people-at-risk-for-knee-osteoarthritis-an-eight-year-longitudinal-study
#16
Nicola Veronese, Brendon Stubbs, Stefania Maggi, Maria Notarnicola, Mario Barbagallo, Joseph Firth, Ligia J Dominguez, Maria Gabriella Caruso
Inadequate magnesium (Mg) intake is associated with lower physical performance, but the relationship with frailty in older people is unclear. Therefore, we aimed to investigate whether higher dietary Mg intake is associated with a lower risk of frailty in a large cohort of North American individuals. Details regarding Mg intake were recorded through a food-frequency questionnaire (FFQ) and categorized as greater than/equal to Recommended Dietary Allowance (RDA) vs. lower. Frailty was defined using the Study of Osteoporotic Fractures index...
November 16, 2017: Nutrients
https://www.readbyqxmd.com/read/29144386/creating-a-world-class-program-through-training-and-certification
#17
Ann Turner
The animal research field has gotten more sophisticated with the use of genetically engineered animals, biohazardous agents, and advanced technologies. Trained and competent personnel are a cornerstone of any animal care and use program. Individual career success is a combination of education, experience, continuing competence, professional development, and personal commitment. Integration of training and certification into programs demonstrate institutional commitment to quality research and enhance the program by providing staff with knowledge and training to address problems and situation that arise and to perform their job in a professional and effective manner...
November 16, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/29144275/the-effect-of-level-of-care-on-gastroschisis-outcomes
#18
Jordan C Apfeld, Zachary J Kastenberg, Karl G Sylvester, Henry C Lee
OBJECTIVE: To examine the relationship between level of care in neonatal intensive care units (NICUs) and outcomes for newborns with gastroschisis. STUDY DESIGN: A retrospective cohort study was conducted at 130 California Perinatal Quality Care Collaborative NICUs from 2008 to 2014. All gastroschisis births were examined according to American Academy of Pediatrics NICU level of care at the birth hospital. Multivariate analyses examined odds of mortality, duration of mechanical ventilation, and duration of stay...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29144191/paternal-involvement-and-support-and-risk-of-preterm-birth-findings-from-the-boston-birth-cohort
#19
Pamela J Surkan, Liming Dong, Yuelong Ji, Xiumei Hong, Hongkai Ji, Mary Kimmel, Wan-Yee Tang, Xiaobin Wang
OBJECTIVE: To investigate to what extent paternal involvement and support during pregnancy were associated with preterm (PTB) and small-for-gestational age (SGA) births. METHODS: Using data from the Boston Birth Cohort (n = 7047), multiple logistic regression models were performed to estimate the log odds of either PTB or SGA birth, with paternal involvement, paternal social support, and family and friend social support variables as the primary independent variables...
November 16, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29144027/longitudinal-change-in-adolescents-prosocial-behavior-toward-strangers-friends-and-family
#20
Laura M Padilla-Walker, Gustavo Carlo, Madison K Memmott-Elison
There is little understanding about how prosocial behavior toward different targets might change over time, and what might promote initial levels and age-related changes in prosocial behavior. Thus, this study examined longitudinal change in prosocial behavior toward strangers, friends, and family from early adolescence through the transition to adulthood. Participants included 500 adolescents from the United States (age 12 to age 20; 52% female, 65% European American). Latent growth curve models suggested that prosocial behavior toward strangers increased across early to mid-adolescence and then flattened out during the transition to adulthood, prosocial behavior toward friends increased steadily, and prosocial behavior toward family was relatively stable across adolescence and then increased...
November 16, 2017: Journal of Research on Adolescence: the Official Journal of the Society for Research on Adolescence
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