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https://www.readbyqxmd.com/read/28327996/genome-sequencing-of-the-sweetpotato-whitefly-bemsia-tabaci-med-q
#1
Wen Xie, Chunhai Chen, Zezhong Yang, Litao Guo, Xin Yang, Dan Wang, Ming Chen, Jinqun Huang, Yanan Wen, Yang Zeng, Yating Liu, Jixing Xia, Lixia Tian, Hongying Cui, Qingjun Wu, Shaoli Wang, Baoyun Xu, Xianchun Li, Xinqiu Tan, Murad Ghanim, Baoli Qiu, Huipeng Pan, Dong Chu, Helene Delatte, M N Maruthi, Feng Ge, Xueping Zhou, Xiaowei Wang, Fanghao Wan, Yuzhou Du, Chen Luo, Fengming Yan, Evan L Preisser, Xiaoguo Jiao, Brad S Coates, Jinyang Zhao, Qiang Gao, Jinquan Xia, Ye Yin, Yong Liu, Judith K Brown, Xuguo Joe Zhou, Youjun Zhang
Background: The sweetpotato whitefly Bemisia tabaci is a highly destructive agricultural and ornamental crop pest. It damages host plants through both phloem feeding and vectoring plant pathogens. Introductions of B. tabaci are difficult to quarantine and eradicate because of its high reproductive rates, broad host plant range, and insecticide resistance. Findings: A total of 791 Gb of raw DNA sequence from whole genome shotgun sequencing, and 13 BAC pooling libraries were generated by Illumina sequencing using different combinations of mate-pair and pair-end libraries...
March 15, 2017: GigaScience
https://www.readbyqxmd.com/read/28327208/practical-report-on-long-term-disaster-mental-health-services-following-the-great-east-japan-earthquake-psychological-and-social-background-of-evacuees-in-sendai-city-in-the-mid-to-long-term-post-disaster-period
#2
Masatsugu Orui, Shuichiro Harada, Mizuho Hayashi
OBJECTIVE: The Great East Japan Earthquake, which occurred on March 11, 2011, caused unprecedented damage. To address evacuees' psychosocial issues, our disaster mental health team provided psychosocial support in the form of careful listening and providing information for reconstruction. METHODS: To summarize evacuees' psychosocial issues, we reviewed records of our daily activities and analyzed factors related to continuation or termination of support. Terminated support was defined as the resolution or improvement of psychological issues relative to the time of initial support...
March 22, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#3
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28301456/prediction-of-breast-cancer-risk-based-on-flow-variant-analysis-of-circulating-peripheral-blood-b-cells
#4
Mahrukh M Syeda, Kinnari Upadhyay, Johnny Loke, Alexander Pearlman, Susan Klugman, Yongzhao Shao, Harry Ostrer
PURPOSE: Identifying women at high risk for breast cancer can trigger a personal program of annual mammograms and magnetic resonance imaging scans for early detection, prophylactic surgery, or chemoprevention to reduce the risk of cancer. Yet, current strategies to identify high-risk mutations based on sequencing panels of genes have significant false-positive and false-negative results, suggesting the need for alternative approaches. METHODS: Flow-variant assays (FVAs) that assess the effects of mutations in the double-strand break (DSB) repair genetic pathway in lymphoblastoid cells in response to treatment with radiomimetic agents were assessed for sensitivity, specificity, and accuracy both alone and as part of a logistic regression classification score...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28262973/trouble-in-transit-organizational-barriers-to-workers-health
#5
Nicole P Bowles, Bruce S McEwen, Carla Boutin-Foster
BACKGROUND: Valuable insights on the health and behavior of transit workers can be obtained from qualitative research that considers the social environment, which affects job performance and determines levels of perceived stress. METHODS: Using a grounded theory approach, semi-structured interviews were conducted with American transit workers (n = 32). Recorded interviews were transcribed and analyzed using a constant comparative method. RESULTS: Participants described categories related to entrenched organizational practices, particularly managements' leadership style, which created an atmosphere of distrust...
March 6, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28236160/asd-traits-among-youth-with-obsessive-compulsive-disorder
#6
Donna L Griffiths, Lara J Farrell, Allison M Waters, Susan W White
Research has shown high rates of comorbid psychiatric disorders among samples of youth with obsessive-compulsive disorder (OCD) (Farrell et al., Psychiatry Res 199(2):115-123, 2012; Lewin et al., Psychiatry Res 178(2):317-322, 2010; POTS Team, J Am Med Assoc 292(16):1969-1976, 2004). Autism and autistic traits co-occur at high rates within clinical samples of youth with OCD (Ivarsson and Melin in J Anxiety Disord 22(6):969-978, 2008; Stewart et al. in Child Psychiatry Hum Dev 1-9, 2016). This study extends the literature by examining the relationship between ASD traits, family accommodation, and functional impairment in a sample of youth with OCD across a wide age range (n = 80; aged 7-17 years)...
February 24, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28220912/shift-schedule-work-family-relationships-marital-communication-job-satisfaction-and-health-among-transport-service-shift-workers
#7
Irena Iskra-Golec, Lawrence Smith, Ewa Wilczek-Rużyczka, Patrycja Siemiginowska, Joanna Wątroba
OBJECTIVES: Existing research has documented that shiftwork consequences may depend on the shift system parameters. Fast rotating systems (1-3 shifts of the same kind in a row) and day work have been found to be less disruptive biologically and socially than slower rotating systems and afternoon and night work. The aim of this study was to compare day workers and shift workers of different systems in terms of rotation speed and shifts worked with regard to work-family and family-work positive and negative spillover, marital communication style, job satisfaction and health...
February 21, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/28220908/hsp70-hspa1-polymorphisms-in-former-workers-with-chronic-mercury-vapor-exposure
#8
Yury I Chernyak, Alla P Merinova
OBJECTIVES: To investigate 4 loci of 3 HSP70 genes in caustic soda production plant former workers, who have been exposed to metallic mercury vapors for a long time, and including numerous cases of chronic mercury intoxication (CMI). MATERIAL AND METHODS: Polymorphisms in HSP70 gene family members (HSP1A1 (+190G/C, rs1043618), HSPA1B (+1267A/G and +2074G/C, rs1061581) and HSP1AL (+2437T/C, rs2227956)) genes were studied among 120 male workers involved in caustic soda production by mercury electrolysis at 2 plants in Eastern Siberia...
February 21, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/28206990/a-familial-study-of-azoospermic-men-identifies-three-novel-causative-mutations-in-three-new-human-azoospermia-genes
#9
Moran Gershoni, Ron Hauser, Leah Yogev, Ofer Lehavi, Foad Azem, Haim Yavetz, Shmuel Pietrokovski, Sandra E Kleiman
PURPOSE: Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest. METHODS: Affected and unaffected siblings from three families were subjected to whole-exome or whole-genome sequencing, followed by comprehensive bioinformatics analyses to identify mutations suspected to cause azoospermia...
February 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28195658/risk-of-work-injury-among-adolescent-students-from-single-and-partnered-parent-families
#10
Imelda S Wong, F Curtis Breslin
BACKGROUND: Parental involvement in keeping their children safe at work has been examined in a handful of studies, with mixed results. Evidence has suggested that non-work injury risk is higher among children from single-parent families, but little is known about their risk for work-related injuries. METHODS: Five survey cycles of the Canadian Community Health Survey were pooled to create a nationally representative sample of employed 15-19-year old students (N = 16,620)...
March 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28169438/association-between-parental-access-to-paid-sick-leave-and-children-s-access-to-and-use-of-healthcare-services
#11
Abay Asfaw, Maria Colopy
BACKGROUND: We examined the association between parental access to paid sick leave (PPSL) and children's use of preventive care and reduced likelihood of delayed medical care and emergency room (ER) visits. METHODS: We used the child sample of the National Health Interview Survey data (linked to the adult and family samples) from 2011 through 2015 and logistic and negative binomial regression models. RESULTS: Controlling for covariates, the odds of children with PPSL receiving flu vaccination were 12...
February 7, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28156518/the-estimated-hospital-wide-financial-impact-of-a-comprehensive-inpatient-palliative-care-pc-program
#12
Chunhua Lu, John P McQuade, A Rab Razzak, Natasha Gill, Michael A Cardamone, Deirdre Torto, Terry Langbaum, David R Holtgrave, Thomas J Smith
173 Background: Inpatient PC improves quality of care, patient and family satisfaction, and lowers costs. PC consultation during a cancer hospital stay led to a 14 (if by day 6) to 24% (by day 2) reduction in direct cost, and especially when people had comorbidities. (May, JCO 2015; Health Affairs 2016). We attempted to discern the financial impact of both a PC inpatient unit (PCU) and PC consultations on patients in other inpatient units for a large academic medical center, the Johns Hopkins Hospital (JHH), as we prepared to expand the PCU from 6 to11 beds and increased inpatient PC consultation capacity...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#13
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28141756/intensive-care-unit-acquired-weakness-implications-for-case-management
#14
Nina R Harvey, Marietta P Stanton
PURPOSE: The purpose of this case study is to provide a specific example of the disease trajectory for one patient's experience with intensive care unit-acquired weakness (ICUAW). This case study provides those in case management with an overview of some of the common signs and symptoms of ICUAW, as well as the possible prognosis and recovery from ICUAW. PRIMARY PRACTICE SETTING: The events in this case study take place in the acute care setting including the intensive care unit of a mid-sized health center, a general medical-surgical (med-surg) unit, and a long-term acute care facility...
March 2017: Professional Case Management
https://www.readbyqxmd.com/read/28141731/growth-and-documentation-deficits-where-to-start-in-helping-families
#15
Wilhelmina Hernandez, Deborah A Frank, Samantha Morton, Carmen Palacios, Marilyn Augustyn
Pedro is a 2-year 7-month-old boy who was presented for the first time after a visit to a local emergency room (ER) for diarrhea. At the time of his birth, his undocumented mother, Clara, was 20 years old, uninsured, and with limited English proficiency living approximately 400 miles south of our practice in a different state. Although she had been brought to the United States as a child, she had never finished high school. Pedro was born what mother thought was full-term at his parent's home, where a lay midwife assisted during the delivery...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28134062/salient-public-beliefs-underlying-disaster-preparedness-behaviors-a-theory-based-qualitative-study
#16
Mehdi Najafi, Ali Ardalan, Ali Akbarisari, Ahmad Ali Noorbala, Helen Elmi
Introduction Given the increasing importance of disaster preparedness in Tehran, the capital of Iran, interventions encouraging disaster preparedness behavior (DPB) are needed. This study was conducted to show how an elicitation method can be used to identify salient consequences, referents, and circumstances about DPB and provide recommendations for interventions and quantitative research. METHOD: A theory-based qualitative study using a semi-structured elicitation questionnaire was conducted with 132 heads of households from 22 districts in Tehran, Iran...
January 30, 2017: Prehospital and Disaster Medicine
https://www.readbyqxmd.com/read/28125083/guca1a-mutation-causes-maculopathy-in-a-five-generation-family-with-a-wide-spectrum-of-severity
#17
Xue Chen, Xunlun Sheng, Wenjuan Zhuang, Xiantao Sun, Guohua Liu, Xun Shi, Guofu Huang, Yan Mei, Yingjie Li, Xinyuan Pan, Yani Liu, Zili Li, Qingshun Zhao, Biao Yan, Chen Zhao
PURPOSE: The aim of this study was to investigate the genetic basis and pathogenic mechanism of variable maculopathies, ranging from mild photoreceptor degeneration to central areolar choroidal dystrophy, in a five-generation family. METHODS: Clinical characterizations, whole-exome sequencing, and genome-wide linkage analysis were carried out on the family. Zebrafish models were used to investigate the pathogenesis of GUCA1A mutations. RESULTS: A novel mutation, GUCA1A p...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#18
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28125078/frequent-inactivating-germline-mutations-in-dna-repair-genes-in-patients-with-ewing-sarcoma
#19
Andrew S Brohl, Rajesh Patidar, Clesson E Turner, Xinyu Wen, Young K Song, Jun S Wei, Kathleen A Calzone, Javed Khan
PURPOSE: Ewing sarcoma is a small round blue cell tumor that is highly malignant and predominantly affects the adolescent and young adult population. It has long been suspected that a genetic predisposition exists for this cancer, but the germ-line genetic underpinnings of this disease have not been well established. METHODS: We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma. RESULTS: We discovered pathogenic or likely pathogenic germline mutations in 13...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28125076/recontacting-participants-for-expanded-uses-of-existing-samples-and-data-a-case-study
#20
Stephanie C Chen, Benjamin E Berkman, Sara Chandros Hull
PURPOSE: Facilitating genomic research may require the use of samples and data collected via consent processes that did not include specific descriptions of secondary uses. We explore whether a waiver of consent with notification and the option to withdraw (WNOW) is a viable alternative to written informed consent for secondary uses of samples and data. METHODS: We developed a retrospective case study of a rare-disease protocol involving 1,978 participants that implemented WNOW for genomic data-sharing activities...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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