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https://www.readbyqxmd.com/read/27914158/causes-of-death-in-an-acute-psychiatric-inpatient-unit-of-a-portuguese-general-hospital
#1
Sofia Barbosa, Márcia Sequeira, Sara Castro, Rita Manso, Catarina Klut Câmara, Bruno Trancas, Nuno Borja-Santos, Teresa Maia
INTRODUCTION: Psychiatric patients are at increased risk of death from a number of natural and unnatural causes. This study examines the mortality causes of all psychiatric inpatients of an acute psychiatric unit at a general hospital in Portugal for sixteen years (1998 to 2013). MATERIAL AND METHODS: Twenty-one inpatients died at the inpatient unit between 1998 and 2013 (average 1.3 per year). A retrospective study through case-file review was carried to collect demographic characteristics, medical and psychiatry diagnosis...
August 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/27914066/computational-tools-for-allosteric-drug-discovery-site-identification-and-focus-library-design
#2
Wenkang Huang, Ruth Nussinov, Jian Zhang
Allostery is an intrinsic phenomenon of biological macromolecules involving regulation and/or signal transduction induced by a ligand binding to an allosteric site distinct from a molecule's active site. Allosteric drugs are currently receiving increased attention in drug discovery because drugs that target allosteric sites can provide important advantages over the corresponding orthosteric drugs including specific subtype selectivity within receptor families. Consequently, targeting allosteric sites, instead of orthosteric sites, can reduce drug-related side effects and toxicity...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27914036/prolactin-regulatory-element-binding-protein-is-involved-in-suppression-of-the-adiponectin-gene-in-vivo
#3
X Z Zhang, H Imachi, J Y Lyu, K Fukunaga, S Sato, T Ibata, T Kobayashi, T Yoshimoto, F Kikuchi, T Dong, K Murao
PURPOSE: Prolactin regulatory element-binding protein (PREB), a member of the WD-repeat protein family, has been recognized as a transcriptional factor that regulates prolactin promoter activity in the anterior pituitary of rats. PREB is expressed not only in the pituitary but also in various other tissues, including the adipose tissue. Previous studies have shown that PREB acts as a transcriptional regulator and suppresses the expression of the adiponectin gene in cultured 3T3L1 preadipocytes...
December 2, 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27913932/almost-2-of-spanish-breast-cancer-families-are-associated-to-germline-pathogenic-mutations-in-the-atm-gene
#4
A Tavera-Tapia, L Pérez-Cabornero, J A Macías, M I Ceballos, G Roncador, M de la Hoya, A Barroso, V Felipe-Ponce, R Serrano-Blanch, C Hinojo, M D Miramar-Gallart, M Urioste, T Caldés, S Santillan-Garzón, J Benitez, A Osorio
PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX)...
December 2, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#5
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913862/prognostic-impact-of-her3-based-on-protein-and-mrna-expression-in-high-grade-serous-ovarian-carcinoma
#6
Ulrike Unger, Carsten Denkert, Ioana Braicu, Jalid Sehouli, Manfred Dietel, Sibylle Loibl, Silvia Darb-Esfahani
HER3 is a member of the epidermal growth factor family and was predominantly described as a negative prognostic factor in various solid tumors as well as in ovarian cancer. In this study, we investigated HER3 on protein and mRNA expression in histologically defined subtypes of ovarian cancer looking for an influence on patient's survival. Altogether, we examined HER3 in ovarian high-grade serous (HGSC, n = 320), low-grade serous (LGSC, n = 55), endometrioid (EC, n = 33), and clear cell (CCC, n = 48) carcinomas using immunohistochemistry (IHC) and quantitative real-time reverse transcription PCR (qRT-PCR)...
December 2, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27913859/complex-genetics-architecture-contributes-to-salmonella-resistance-in-acb60-mice
#7
Sean Beatty, Leïla Rached-D'Astous, Danielle Malo
Human infection with Salmonella is of global public health concern. In low- and middle-income countries, Salmonella infection is a major source of disease in terms of both mortality and morbidity, while in high-income nations, the pathogen is an ongoing threat to food security. The outcome of infection with Salmonella enterica serovar Typhimurium (Salmonella Typhimurium) in mouse models is dependent upon a coordinated and complex immune response. A panel of recombinant congenic strains (RCS) derived from the reciprocal double backcross of A/J and C57BL/6J mice has been screened for their susceptibility to Salmonella infection, and the RCS AcB60 was identified to be the most resistant strain to Salmonella infection, more resistant than the parental strain A/J...
December 2, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27913833/tight-repulsion-linkage-between-sr36-and-sr39-was-revealed-by-genetic-cytogenetic-and-molecular-analyses
#8
Bosco Chemayek, Urmil K Bansal, Naeela Qureshi, Peng Zhang, William W Wagoire, Harbans S Bariana
The shortening of Aegilops speltoides segment did not facilitate recombination between stem rust resistance genes Sr36 and Sr39 . Robustness of marker rwgs28 for marker-assisted selection of Sr39 was demonstrated. Stem rust resistance genes Sr39 and Sr36 were transferred from Aegilops speltoides and Triticum timopheevii, respectively, to chromosome 2B of wheat. Genetic stocks RL6082 and RWG1 carrying Sr39 on a large and a shortened Ae. speltoides segments, respectively, and the Sr36-carrying Australian wheat cultivar Cook were used in this study...
December 2, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27913791/circadian-transcription-factor-bmal1-regulates-innate-immunity-against-select-rna-viruses
#9
Tanmay Majumdar, Jayeeta Dhar, Sonal Patel, Roman Kondratov, Sailen Barik
BMAL1 (brain and muscle ARNT-like protein 1, also known as MOP3 or ARNT3) belongs to the family of the basic helix-loop-helix (bHLH)-PAS domain-containing transcription factors, and is a key component of the molecular oscillator that generates circadian rhythms. Here, we report that BMAL1-deficient cells are significantly more susceptible to infection by two major respiratory viruses of the Paramyxoviridae family, namely RSV and PIV3. Embryonic fibroblasts from Bmal1(-/-) mice produced nearly 10-fold more progeny virus than their wild type controls...
December 1, 2016: Innate Immunity
https://www.readbyqxmd.com/read/27913689/how-is-low-parental-socioeconomic-status-associated-with-future-smoking-and-nicotine-dependence-in-offspring-a-population-based-longitudinal-13-year-follow-up
#10
Willy Pedersen, Tilmann Von Soest
AIMS: Low socioeconomic status (SES) characterizes smoking and nicotine dependence in adult samples. However, less is known about how parental SES is linked to smoking in offspring and the potential mechanisms at work. METHODS: A population-based longitudinal study (n=1380) from Norway was used. Participants were followed from their mid-teens until their late 20s using survey and register data. Data were collected on parental education, parental smoking, educational aspirations and expectations, school grades and school-related conduct problems...
December 1, 2016: Scandinavian Journal of Public Health
https://www.readbyqxmd.com/read/27913684/transporter-oligomerization-form-and-function
#11
REVIEW
Yilmaz Alguel, Alexander D Cameron, George Diallinas, Bernadette Byrne
Transporters are integral membrane proteins with central roles in the efficient movement of molecules across biological membranes. Many transporters exist as oligomers in the membrane. Depending on the individual transport protein, oligomerization can have roles in membrane trafficking, function, regulation and turnover. For example, our recent studies on UapA, a nucleobase ascorbate transporter, from Aspergillus nidulans, have revealed both that dimerization of this protein is essential for correct trafficking to the membrane and the structural basis of how one UapA protomer can affect the function of the closely associated adjacent protomer...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913681/the-borg-family-of-cdc42-effector-proteins-cdc42ep1-5
#12
REVIEW
Aaron J Farrugia, Fernando Calvo
Despite being discovered more than 15 years ago, the Borg (binder of Rho GTPases) family of Cdc42 effector proteins (Cdc42EP1-5) remains largely uncharacterised and relatively little is known about their structure, regulation and role in development and disease. Recent studies are starting to unravel some of the key functional and mechanistic aspects of the Borg proteins, including their role in cytoskeletal remodelling and signalling. In addition, the participation of Borg proteins in important cellular processes such as cell shape, directed migration and differentiation is slowly emerging, directly linking Borgs with important physiological and pathological processes such as angiogenesis, neurotransmission and cancer-associated desmoplasia...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913669/the-unconventional-g-protein-cycle-of-lrrk2-and-roco-proteins
#13
REVIEW
Susanne Terheyden, Laura M Nederveen-Schippers, Arjan Kortholt
Mutations in the human leucine-rich repeat kinase 2 (LRRK2) are the most frequent cause of hereditary Parkinson's disease (PD). LRRK2 belongs to the Roco family of proteins, which are characterized by the presence of a Ras of complex proteins domain (Roc), a C-terminal of Roc domain (COR) and a kinase domain. Despite intensive research, much remains unknown about activity and the effect of PD-associated mutations. Recent biochemical and structural studies suggest that LRRK2 and Roco proteins are noncanonical G-proteins that do not depend on guanine nucleotide exchange factors or GTPase-activating proteins for activation...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913668/cellular-functions-of-lrrk2-implicate-vesicular-trafficking-pathways-in-parkinson-s-disease
#14
REVIEW
Mark R Cookson
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, associated with Parkinson's disease, have been shown to affect intracellular trafficking pathways in a variety of cells and organisms. An emerging theme is that LRRK2 can bind to multiple membranous structures in cells, and several recent studies have suggested that the Rab family of small GTPases might be important in controlling the recruitment of LRRK2 to specific cellular compartments. Once localized to membranes, LRRK2 then influences downstream events, evidenced by changes in the autophagy-lysosome pathway...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913641/translation-repression-by-maternal-rna-binding-protein-zar1-is-essential-for-early-oogenesis-in-zebrafish
#15
Liyun Miao, Yue Yuan, Feng Cheng, Junshun Fang, Fang Zhou, Weirui Ma, Yan Jiang, Xiahe Huang, Yingchun Wang, Lingjuan Shan, Dahua Chen, Jian Zhang
Large numbers of maternal RNAs are deposited in oocytes and are reserved for later development. Control of maternal RNA translation during oocyte maturation has been extensively investigated and its regulatory mechanisms are well documented. However, translational regulation of maternal RNAs in early oogenesis is largely unexplored. In this study, we generated zebrafish zar1 mutants which result in early oocyte apoptosis and fully penetrant male development. Loss of p53 suppresses the apoptosis in zar1 mutants and restores oocyte development...
December 2, 2016: Development
https://www.readbyqxmd.com/read/27913614/relationship-between-employment-histories-and-frailty-trajectories-in-later-life-evidence-from-the-english-longitudinal-study-of-ageing
#16
Wentian Lu, Rebecca Benson, Karen Glaser, Loretta G Platts, Laurie M Corna, Diana Worts, Peggy McDonough, Giorgio Di Gessa, Debora Price, Amanda Sacker
BACKGROUND: Given the acceleration of population ageing and policy changes to extend working lives, evidence is needed on the ability of older adults to work for longer. To understand more about the health impacts of work, this study examined the relationship between employment histories before retirement and trajectories of frailty thereafter. METHODS: The sample comprised 2765 women and 1621 men from the English Longitudinal Study of Ageing. We used gendered typologies of life-time employment and a frailty index (FI)...
December 2, 2016: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/27913609/ap2s1-and-gna11-mutations-not-a-common-cause-of-familial-hypocalciuric-hypercalcemia
#17
Silje Hovden, Lars Rejnmark, Søren A Ladefoged, Peter H Nissen
OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913595/public-attitudes-towards-people-living-with-dementia-a-cross-sectional-study-in-urban-japan-innovative-practice
#18
Yoko Aihara, Hisako Kato, Tetsuko Sugiyama, Kuniko Ishi, Yasushi Goto
Stigma and social isolation are major challenges in building dementia friendly communities. Information is a key factor in improving knowledge and attitudes about dementia. This cross-sectional survey aimed to investigate public attitudes towards people with dementia in an urban community in Japan. Nearly 90% of the participants responded that they were able to have a good relationship with a person with dementia and help such a person if needed. However, around half of the participants would be ashamed of a family member with dementia...
December 2, 2016: Dementia
https://www.readbyqxmd.com/read/27913572/very-low-density-lipoprotein-vldl-induced-signals-mediating-aldosterone-production
#19
Ying-Ying Tsai, William E Rainey, Wendy B Bollag
Aldosterone, secreted by the adrenal zona glomerulosa, enhances sodium retention, thus increasing blood volume and pressure. Excessive production of aldosterone results in high blood pressure, and contributes to cardiovascular and renal disease, stroke, and visual loss. Hypertension is also associated with obesity, which s correlated with other serious health risks as well. Although weight gain is associated with increased blood pressure, the mechanism by which excess fat deposits increase blood pressure remains unclear...
December 2, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27913563/-you-can-t-be-a-person-and-a-doctor-the-work-life-balance-of-doctors-in-training-a-qualitative-study
#20
Antonia Rich, Rowena Viney, Sarah Needleman, Ann Griffin, Katherine Woolf
OBJECTIVES: Investigate the work-life balance of doctors in training in the UK from the perspectives of trainers and trainees. DESIGN: Qualitative semistructured focus groups and interviews with trainees and trainers. SETTING: Postgraduate medical training in London, Yorkshire and Humber, Kent, Surrey and Sussex, and Wales during the junior doctor contract dispute at the end of 2015. Part of a larger General Medical Council study about the fairness of postgraduate medical training...
December 2, 2016: BMJ Open
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