keyword
MENU ▼
Read by QxMD icon Read
search

family med

keyword
https://www.readbyqxmd.com/read/28206990/a-familial-study-of-azoospermic-men-identifies-three-novel-causative-mutations-in-three-new-human-azoospermia-genes
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28114964/antinociceptive-effect-of-methanol-extract-of-dalbergia-sissoo-leaves-in-mice
#13
Md Abdul Mannan, Ambia Khatun, Md Farhad Hossen Khan
BACKGROUND: Dalbergia sissoo DC. (Family: Fabaceae) is a medium to large deciduous tree, is locally called "shishu" in Bangladesh. It is used to treat sore throats, dysentery, syphilis, bronchitis, inflammations, infections, hernia, skin diseases, and gonorrhea. This study evaluated the antinociceptive effect of the methanol extract of D. sissoo leaves (MEDS) in mice. METHODS: The extract was assessed for antinociceptive activity using chemical and heat induced pain models such as hot plate, tail immersion, acetic acid-induced writhing, formalin, glutamate, and cinnamaldehyde test models in mice at the doses of 100, 200, and 400 mg/kg (p...
January 23, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28093095/pregnant-women-s-awareness-of-social-capital-in-the-great-east-japan-earthquake-affected-areas-of-miyagi-prefecture-the-japan-environment-and-children-s-study
#14
Hidekazu Nishigori, Toshie Nishigori, Kasumi Sakurai, Satoshi Mizuno, Taku Obara, Hirohito Metoki, Zen Watanabe, Noriyuki Iwama, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Junichi Sugawara, Shinichi Kuriyama, Ikuma Fujiwara, Takahiro Arima, Kunihiko Nakai, Fumiaki Takahashi, Nobuo Yaegashi
OBJECTIVE: We aimed to clarify the correlation between the 2011 Great East Japan Earthquake and pregnant women's awareness of social capital 3 to 9 months after the tsunami disaster. METHODS: We analyzed data on responses to a questionnaire by 7451 pregnant women in their second to third trimesters. The proportions of social capital-related items were calculated in the north and south coastal areas of Miyagi Prefecture and were compared with national samples. The factors associated with social capital were estimated by use of multivariate logistic regression analyses...
January 17, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28079902/phenx-measures-for-phenotyping-rare-genetic-conditions
#15
Michael Phillips, Tracey Grant, Philip Giampietro, Joann Bodurtha, Rodolfo Valdez, Deborah R Maiese, Tabitha Hendershot, Sharon F Terry, Carol M Hamilton
INTRODUCTION: The PhenX Toolkit, an online resource of well-established measures of phenotypes and exposures, now has 16 new measures recommended for assessing rare genetic conditions. MATERIALS AND METHODS: These measures and their protocols were selected by a working group of domain experts with input from the scientific community. RESULTS: The measures, which cover life stages from birth through adulthood, include clinical scales, characterization of rare genetic conditions, bioassays, and questionnaires...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28077197/personal-disaster-and-emergency-support-networks-of-older-adults-in-a-rural-community-changes-after-participation-in-a-preparedness-program
#16
Sato Ashida, Erin L Robinson, Jane Gay, Lauren E Slagel, Marizen R Ramirez
OBJECTIVE: Personal disaster and emergency support networks of rural older adults are described before and after participation in a disaster preparedness intervention, PrepWise. METHODS: At baseline, a total of 194 disaster support network members were identified by 27 older adults in a rural Midwest community. After the intervention, these participants identified 232 support network members. Multilevel logistic regression models were constructed to identify characteristics of the network members and social interactions associated with support providers at baseline as well as newly added support sources after the PrepWise intervention...
January 12, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28005087/-structural-empowerment-and-work-family-fit-in-nurses
#17
Agnieszka Orłowska, Mariola Łaguna
BACKGROUND: The goal of the study was to investigate the relationship between structural empowerment and work-family fit in Polish nurses. Structural empowerment is a strategy for managing by providing the employees with opportunities, information, support and resources essential for the effective performance of work duties. Work-family fit takes 2 forms of relationships between these 2 spheres: conflict (functioning in one role is more difficult because of participation in the other role) and facilitation (fulfilling the duties associated with one role enriches filling up the other role)...
December 22, 2016: Medycyna Pracy
https://www.readbyqxmd.com/read/28005082/miners-return-to-work-following-injuries-in-coal-mines
#18
Ashis Bhattacherjee, Bijay Mihir Kunar
BACKGROUND: The occupational injuries in mines are common and result in severe socio-economical consequences. Earlier studies have revealed the role of multiple factors such as demographic factors, behavioral factors, health-related factors, working environment, and working conditions for mine injuries. However, there is a dearth of information about the role of some of these factors in delayed return to work (RTW) following a miner's injury. These factors may likely include personal characteristics of injured persons and his or her family, the injured person's social and economic status, and job characteristics...
December 22, 2016: Medycyna Pracy
https://www.readbyqxmd.com/read/27929526/population-screening-for-brca1-brca2-founder-mutations-in-ashkenazi-jews-proactive-recruitment-compared-with-self-referral
#19
Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Oded Olsha, Shalom Strano, Rachel Beeri, Sivan Koka, Hila Fridman, Karen Djemal, Itzhak Glick, Todd Zalut, Shlomo Segev, Miri Sklair, Bella Kaufman, Amnon Lahad, Aviad Raz, Ephrat Levy-Lahad
PURPOSE: Population screening of three common BRCA1/BRCA2 mutations in Ashkenazi Jews (AJ) apparently fulfills screening criteria. We compared streamlined BRCA screening via self-referral with proactive recruitment in medical settings. METHODS: Unaffected AJ, age ≥25 years without known familial mutations, were either self-referred or recruiter-enrolled. Before testing, participants received written information and self-reported family history (FH). After testing, both non-carriers with significant FH and carriers received in-person genetic counseling...
December 8, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906198/population-screening-for-brca1-brca2-mutations-lessons-from-qualitative-analysis-of-the-screening-experience
#20
Sari Lieberman, Amnon Lahad, Ariela Tomer, Carmit Cohen, Ephrat Levy-Lahad, Aviad Raz
PURPOSE: Population screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information. METHODS: Interviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
keyword
keyword
53622
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"