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https://www.readbyqxmd.com/read/29649891/erratum
#1
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Singer AE, Ash T, Ochotorena C, Lorenz KA, Chong K, Shreve ST, Ahluwalia SC. A Systematic Review of Family Meeting Tools in Palliative and Intensive Care Settings. Am J Hosp Palliat Care. 2016; 33(8):797-806. (DOI: 10.1177/1049909115594353) It was noted that the following references were duplicated in the above mentioned article. (i) Billings JA, Block SD. The end-of-life family meeting in intensive care part III: A guide for structured discussions. J Palliat Med. 2011;14(9):1058-1064. (ii) Fineberg IC, Kawashima M, Asch SM...
January 1, 2018: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/29622049/socio-cultural-challenges-of-family-planning-initiatives-for-displaced-populations-in-conflict-situations-and-humanitarian-settings
#2
Ramin Asgary, Joan T Price
Provision of family planning services for refugee populations in conflict and humanitarian settings has been improving. Availability of services, however, does not translate into acceptability and uptake; understanding socio-cultural settings and barriers is critical to ensure utilization of services. Misconceptions and apprehensions surrounding family planning services are common. Populations may see limiting pregnancies as counterproductive in light of high child mortality or suspicious in the context of ethnic violence; larger family size has the perceived advantage of additional security for the community or ethnic group, assistance with family duties in a subsistence structure, and a social service investment for parents as they age; and there may be religious and moral objections to contraception...
April 6, 2018: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29593177/molecular-pathogenesis-of-familial-wolff-parkinson-white-syndrome
#3
Miyamotoa Licht
Familial Wolff-Parkinson-White (WPW) syndrome is an autosomal dominant inherited disease and consists of a small percentage of WPW syndrome which exhibits ventricular pre-excitation by development of accessory atrioventricular pathway. A series of mutations in PRKAG2 gene encoding gamma2 subunit of 5'AMP-activated protein kinase (AMPK) has been identified as the cause of familial WPW syndrome. AMPK is one of the most important metabolic regulators of carbohydrates and lipids in many types of tissues including cardiac and skeletal muscles...
2018: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/29582439/radiation-dose-dependence-on-subject-size-in-abdominal-computed-tomography-water-phantom-and-patient-model-comparison
#4
Xinhua Li, Kai Yang, Bob Liu
PURPOSE: Development of patient organ dose evaluation method in computed tomography (CT) needs to model the correlation between organ dose and patient size, under various conditions of scan length, tube current lineshape, and organ location. To facilitate this task, this work was to perform a comprehensive study of the relationship between the dose to water phantom and its diameter under various settings of phantom axis, scan length, and the location across or beyond the scanned range...
March 26, 2018: Medical Physics
https://www.readbyqxmd.com/read/29582195/patterns-of-family-and-intimate-partner-violence-in-problem-gamblers
#5
Aino Suomi, Nicki A Dowling, Shane Thomas, Max Abbott, Maria Bellringer, Malcolm Battersby, Jane Koziol-McLain, Tiffany Lavis, Alun C Jackson
While the evidence about the statistical co-occurrence of family violence and problem gambling is growing, the mechanism by which the two behaviours are related is less clear. This study sought to clarify the dynamics of the problem behaviours, including the role of gender in victimisation and perpetration of violence in the family. Two-hundred-and-twelve treatment seeking problem gamblers (50.5% females) were recruited for interviews about past year FV and IPV experiences. The interviews included questions about the types of FV and IPV using the HITS tool (Sherin et al...
March 26, 2018: Journal of Gambling Studies
https://www.readbyqxmd.com/read/29521241/beta-vulgaris-a-mini-review-of-traditional-uses-in-iran-phytochemistry-and-pharmacology
#6
Shokouhsadat Hamedi, Masoud Honarvar
BACKGROUND: Beta vulgaris (family: Chenopodiacea) is now much used in the food industry as a rich source of sugar but it is much less considered in medicine. Beet has been used in traditional medicine for hundreds of years to treat a variety of diseases such as constipation, decreased libido, gut and joint pain and dandruff. METHODS: This study introduced the benefits of Beta vulgaris by reviewing of Iranian traditional documents from 10th century until now and also compared modern phytotherapy of plant beet from the electronic data banks such as ISI, Pub Med and Scopus with findings that extracted from traditional literature...
March 8, 2018: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/29493583/anticipating-uncertainty-and-irrevocable-decisions-provider-perspectives-on-implementing-whole-genome-sequencing-in-critically-ill-children-with-heart-disease
#7
Danton S Char, Sandra Soo-Jin Lee, David Magnus, Mildred Cho
PurposeTo investigate the potential impacts of whole-genome sequencing (WGS) in the pediatric critical-care context, we examined how clinicians caring for critically ill children with congenital heart disease (CHD) anticipate and perceive the impact of WGS on their decision-making process and treatment recommendations.MethodsWe conducted semistructured in-person and telephone interviews of clinicians involved in the care of critically ill children with CHD at a high-volume pediatric heart center. We qualitatively analyzed the transcribed interviews...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29482596/baden-prevention-and-reduction-of-incidence-of-postoperative-delirium-trial-pride-a-phase-iv-multicenter-randomized-placebo-controlled-double-blind-clinical-trial-of-ketamine-versus-haloperidol-for-prevention-of-postoperative-delirium
#8
Harriet Riegger, Alexa Hollinger, Burkhardt Seifert, Katharina Toft, Andrea Blum, Tatjana Zehnder, Martin Siegemund
BACKGROUND: Delirium is a neurobehavioural syndrome that frequently develops in the postoperative setting. The incidence of elderly patients who develop delirium during hospital stay ranges from 10 to 80% (Schonauer et al., J Pept Sci. 2017). Delirium was first described more than half a century ago in the cardiac surgery population (Blachy and Starr, Am J Psychiatry 121:371-5, 1964), where it was already discovered as a state that might be accompanied by serious complications such as prolonged ICU and hospital stay, reduced quality of life and increased mortality...
February 26, 2018: Trials
https://www.readbyqxmd.com/read/29470103/an-approach-to-children-with-pulmonary-edema-at-high-altitude
#9
Deborah R Liptzin, Steven H Abman, Ann Giesenhagen, D Dunbar Ivy
Liptzin, Deborah R., Steven H. Abman, Ann Giesenhagen, and D. Dunbar Ivy. An approach to children with pulmonary edema at high altitude. High Alt Med Biol. 00:000-000, 2018. INTRODUCTION: Diagnosis of high-altitude illness can be more challenging in children, especially those who are preverbal. Families often travel to high elevations for family vacations, either for skiing, hiking, and/or camping. They may present to their primary care providers looking for anticipatory guidance before travel or may follow-up after developing high-altitude illness...
February 22, 2018: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/29469822/autosomal-recessive-noonan-syndrome-associated-with-biallelic-lztr1-variants
#10
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29460329/population-based-testing-of-non-mucinous-epithelial-ovarian-cancer-in-scotland
#11
D G Evans, R Edmondson, E J Crosbie
Rust and colleagues provide strong support for the extension of BRCA1/2 germline testing to all high grade serous ovarian cancer (HGSOC) cases regardless of family history (Rust et al, BJOG 2018). The reflex testing of all consenting cases uncovered the deficiencies of the previous system whereby many women with a family history in the prevalent population of previous ovarian cancer were not tested despite having a Manchester score of ≥15, equivalent to a 10% detection rate or greater of a BRCA1/2 pathogenic variant (Evans et al, J Med Genet 2017;54:674-681)...
February 20, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29458452/disaster-survivors-anticipated-received-support-in-a-future-disaster
#12
Sarah R Lowe, Megan N Young, Joie Acosta, Laura Sampson, Oliver Gruebner, Sandro Galea
OBJECTIVE: This study aimed to examine factors associated with receipt of post-disaster support from network (eg, family or friends) and non-network (eg, government agencies) sources. METHODS: Participants (n=409) were from a population-based sample of Hurricane Sandy survivors surveyed 25-28 months post-disaster. Survivors were asked to imagine a future disaster and indicate how much they would depend on network and non-network sources of support. In addition, they reported on demographic characteristics, disaster-related exposure, post-traumatic stress, and depression...
February 20, 2018: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29432522/wdl-rf-predicting-bioactivities-of-ligand-molecules-acting-with-g-protein-coupled-receptors-by-combining-weighted-deep-learning-and-random-forest
#13
Jiansheng Wu, Qiuming Zhang, Weijian Wu, Tao Pang, Haifeng Hu, Wallace K B Chan, Xiaoyan Ke, Yang Zhang, Jonathan Wren
Motivation: Precise assessment of ligand bioactivities (including IC50, EC50, Ki, Kd, etc.) is essential for virtual screening and lead compound identification. However, not all ligands have experimentally-determined activities. In particular, many G protein-coupled receptors (GPCRs), which are the largest integral membrane protein family and represent targets of nearly 40% drugs on the market, lack published experimental data about ligand interactions. Computational methods with the ability to accurately predict the bioactivity of ligands can help efficiently address this problem...
February 8, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29419818/scyl1-variants-cause-a-syndrome-with-low-%C3%AE-glutamyl-transferase-cholestasis-acute-liver-failure-and-neurodegeneration-calfan
#14
Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner
PurposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.MethodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology...
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29362006/disaster-preparedness-in-primary-care-ready-or-not
#15
Micheleen Hashikawa, Katherine J Gold
Purpose To assess perceptions and attitudes toward disasters and disaster planning among outpatient primary care leaders. METHODS: Written surveys and semi-structured interviews of non-physician clinical managers and physician medical directors were conducted using the 2009 H1N1 pandemic as a case-based scenario at 5 university-affiliated family medicine clinics. Domains assessed included perceived pandemic threat; value, existence, and barriers to creating personal disaster plans; staff absenteeism estimates; barriers to work attendance...
January 24, 2018: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29357812/the-invasive-med-q-bemisia-tabaci-genome-a-tale-of-gene-loss-and-gene-gain
#16
Wen Xie, Xin Yang, Chunhai Chen, Zezhong Yang, Litao Guo, Dan Wang, Jinqun Huang, Hailin Zhang, Yanan Wen, Jinyang Zhao, Qingjun Wu, Shaoli Wang, Brad S Coates, Xuguo Zhou, Youjun Zhang
BACKGROUND: Sweetpotato whitefly, Bemisia tabaci MED/Q and MEAM1/B, are two economically important invasive species that cause considerable damages to agriculture crops through direct feeding and indirect vectoring of plant pathogens. Recently, a draft genome of B. tabaci MED/Q has been assembled. In this study, we focus on the genomic comparison between MED/Q and MEAM1/B, with a special interest in MED/Q's genomic signatures that may contribute to the highly invasive nature of this emerging insect pest...
January 22, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29261177/reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#17
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29240075/a-systematic-analysis-of-online-marketing-materials-used-by-providers-of-expanded-carrier-screening
#18
Davit Chokoshvili, Pascal Borry, Danya F Vears
PurposeExpanded carrier screening (ECS) for a large number of recessive disorders is available to prospective parents through commercial providers. This study aimed to analyze the content of marketing materials on ECS providers' websites.MethodsTo identify providers of ECS tests, we undertook a comprehensive online search, reviewed recent academic literature on commercial carrier screening, and consulted with colleagues familiar with the current ECS landscape. The identified websites were archived in April 2017, and inductive content analysis was performed on website text, brochures and educational materials, and video transcripts...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29227155/using-mobile-health-to-improve-social-support-for-low-income-latino-patients-with-diabetes-a-mixed-methods-analysis-of-the-feasibility-trial-of-text-med-fans
#19
Elizabeth Burner, Chun Nok Lam, Rebecca DeRoss, Marjorie Kagawa-Singer, Michael Menchine, Sanjay Arora
BACKGROUND: Social support interventions can improve diabetes self-care, particularly for Latinos, but are time and resource intensive. Mobile health may overcome these barriers by engaging and training supporters remotely. METHODS: We conducted a randomized controlled feasibility trial of emergency department patients with diabetes to determine the feasibility of enrolling patients and supporters, acceptability of the intervention, and preliminary efficacy results to power a larger trial...
January 2018: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/29219637/first-cases-of-hb-agrinio-described-in-patients-from-the-republic-of-macedonia
#20
Marija Dimishkovska, Maja Kuzmanovska, Svetlana Kocheva, Kata Martinova, Oliver Karanfilski, Zlate Stojanoski, Dijana Plaseska-Karanfilska
Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: -α3.7 (rightward), -(α)20.5 and - -MED I deletions and Hb Icaria [α142, Term→Lys (α2), HBA2: c.427T>A] and polyadenylation signal (polyA) [AATAAA>AATGAA (α2), HBA2: c.*92A>G] point mutations. Here, we report two unrelated patients from the Romani population in the Republic of Macedonia, homozygotes for the α2-globin gene variant Hb Agrinio [α29(B10)Leu→Pro; HBA2: c...
July 2017: Hemoglobin
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