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https://www.readbyqxmd.com/read/28222527/gene-expression-and-methylation-analysis-of-abca7-in-patients-with-alzheimer-s-disease
#1
Kiyohiro Yamazaki, Yuta Yoshino, Takaaki Mori, Taku Yoshida, Yuki Ozaki, Tomoko Sao, Yoko Mori, Shinichiro Ochi, Jun-Ichi Iga, Shu-Ichi Ueno
BACKGROUND/OBJECTIVE: The aim of this study was to examine the blood gene expression and methylation of ATP-binding cassette sub-family A member 7 gene (ABCA7) as a biological marker of AD. METHODS: AD subjects (n = 50; 11 males, 77.7±6.05 years old) and age- and sex-matched healthy controls (n = 50) were recruited. A single nucleotide polymorphism in ABCA7 (rs3764650), methylation rates of CpG sites in the ABCA7 promoter region, and ABCA7 mRNA expression levels in peripheral blood were examined...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222519/genetic-stratification-to-identify-risk-groups-for-alzheimer-s-disease
#2
Riccardo E Marioni, Archie Campbell, Saskia P Hagenaars, Reka Nagy, Carmen Amador, Caroline Hayward, David J Porteous, Peter M Visscher, Ian J Deary
Stratification by genetic risk factors for Alzheimer's disease (AD) may help identify groups with the greatest disease risk. Biological changes that cause late-onset AD are likely to occur years, if not decades prior to diagnosis. Here, we select a subset of the Generation Scotland: Scottish Family Health Study cohort in a likely preclinical age-range of 60-70 years (subset n = 3,495 with cognitive and genetic data). We test for cognitive differences by polygenic risk scores for AD. The polygenic scores are constructed using all available SNPs, excluding those within a 500 kb distance of the APOE locus...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222494/selecting-cases-and-controls-for-dna-sequencing-studies-using-family-histories-of-disease
#3
Wonji Kim, Dandi Qiao, Michael H Cho, Soo Heon Kwak, Kyong Soo Park, Edwin K Silverman, Pak Sham, Sungho Won
Recent improvements in sequencing technology have enabled the investigation of so-called missing heritability, and a large number of affected subjects have been sequenced in order to detect significant associations between human diseases and rare variants. However, the cost of genome sequencing is still high, and a statistically powerful strategy for selecting informative subjects would be useful. Therefore, in this report, we propose a new statistical method for selecting cases and controls for sequencing studies based on family history...
February 21, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28222493/mobilising-culture-against-domestic-violence-in-migrant-and-ethnic-communities-practitioner-perspectives-from-aotearoa-new-zealand
#4
Rachel Simon-Kumar, Priya A Kurian, Faith Young-Silcock, Nirmala Narasimhan
Studies on domestic violence in ethnic minority communities highlight that social norms, family structures and cultural practices are among the key triggers of violence against women. Not surprisingly, most anti-violence interventions in these communities aim to redeem women from the oppressive features of these cultures. More recently, however, emergent scholarship advocates mobilising, rather than erasing, culture within existing anti-violence strategies. This paper explores the nature of culturally informed interventions used by front-line workers...
February 21, 2017: Health & Social Care in the Community
https://www.readbyqxmd.com/read/28222434/a-feedback-loop-between-mir-30a-c-5p-and-dnmt1-mediates-cisplatin-resistance-in-ovarian-cancer-cells
#5
Xi Han, Shuai Zhen, Zhongxue Ye, Jiaojiao Lu, Lijie Wang, Pan Li, Jie Li, Xia Zheng, Huijin Li, Wei Chen, Le Zhao, Xu Li
BACKGROUND: Many microRNAs (miRs) are dysregulated in cancers, and aberrant miR expression patterns have been suggested to correlate with chemo-resistance of cancer cells. We aim to study the role of miR-30 family members in cisplatin-resistance of ovarian cancer cells. METHODS: qRT-PCR was used to compare differential expression levels of miR-30 family members in ovarian cancer cell line A2780 and its cisplatin-resistant derivative CP70. Changes of cisplatin-sensitivity in miR-30a-5p- and miR-30c-5p-overexpressed-CP70 cells and miR-30a-5p- and miR-30c-5p-inhibited-A2780 cells were examined by CCK8 assay and apoptosis analysis using flow cytometry; targets of miR-30a/c-5p were analyzed by western blotting and luciferase reporter assay; methylation regulation of pre-miR-30a/c-5p was examined by methylation specific PCR...
February 21, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28222271/pathways-to-lung-cancer-diagnosis-a-qualitative-study-of-patients-and-general-practitioners-about-diagnostic-and-pre-treatment-intervals
#6
Nicole M Rankin, Sarah York, Emily Stone, David Barnes, Deborah McGregor, Michelle Lai, Tim Shaw, Phyllis N Butow
RATIONALE: Pathways to lung cancer diagnosis and treatment are complex. International evidence shows significant variations in pathways. Qualitative research investigating pathways to lung cancer diagnosis rarely considers both patient and general practitioner views simultaneously. OBJECTIVES: To describe the lung cancer diagnostic pathway, focusing on the perspective of patients and general practitioners about diagnostic and pre-treatment intervals. METHODS: This qualitative study of lung cancer patients and general practitioners in Australia used qualitative interviews or a focus group in which participants responded to a semistructured questionnaire designed to explore experiences of the diagnostic pathway...
February 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28222240/a-computerized-family-planning-counseling-aid-a%C3%A2-pilot%C3%A2-study-evaluation-of-smart-choices
#7
Helen P Koo, Ellen K Wilson, Alexandra M Minnis
CONTEXT: Resource constraints may make it challenging for family planning clinics to provide comprehensive contraceptive counseling; technological tools that help providers follow recommended practices without straining resources merit evaluation. METHODS: A pilot study using a two-group, posttest-only experimental design evaluated Smart Choices, a computer-based tool designed to help providers offer more patient-centered counseling and enable patients to participate proactively in the counseling session...
February 21, 2017: Perspectives on Sexual and Reproductive Health
https://www.readbyqxmd.com/read/28222214/segregation-and-expression-analyses-of-habp2-insights-from-a-large-series-of-familial-non-medullary-thyroid-cancers-and-literature-review
#8
Carla Colombo, Marina Muzza, Maria Carla Proverbio, Giulia Ercoli, Michela Perrino, Valentina Cirello, Leonardo Vicentini, Stefano Ferrero, Laura Fugazzola
INTRODUCTION: Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC). Nevertheless, this postulated role was not confirmed in additional cohorts. Contrasting data are also available on HABP2 expression in the thyroid. OBJECTIVES: To investigate HABP2 as a potential susceptibility gene in a large series of 27 unrelated families with FNMTC and to test its expression in thyroid tumor and matched normal tissues...
February 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28222189/molecular-epidemiology-of-mycobacterium-tuberculosis-complex-in-brussels-2010-2013
#9
Christelle Vluggen, Karine Soetaert, Guido Groenen, Maryse Wanlin, Martine Spitaels, Wouter Arrazola de Oñate, Maryse Fauville-Dufaux, Claude Saegerman, Vanessa Mathys
The tuberculosis (TB) incidence rate in Brussels-Capital Region is 3-fold higher than in Belgium as a whole. Eight years after the realization of initial prospective population-based molecular epidemiology investigations in this Region, a similar study over the period 2010-2013 was conducted. TB strains isolated from 945 patients were submitted to genotyping by standardized 24-locus-MIRU-VNTR typing and spoligotyping. The phylogenetic analysis showed that the LAM (16.7%) and Haarlem (15.7%) branches are the two most prevalent TB lineages circulating in Brussels...
2017: PloS One
https://www.readbyqxmd.com/read/28222171/metabolite-profiling-of-the-carnivorous-pitcher-plants-darlingtonia-and-sarracenia
#10
Hannu Hotti, Peddinti Gopalacharyulu, Tuulikki Seppänen-Laakso, Heiko Rischer
Sarraceniaceae is a New World carnivorous plant family comprising three genera: Darlingtonia, Heliamphora, and Sarracenia. The plants occur in nutrient-poor environments and have developed insectivorous capability in order to supplement their nutrient uptake. Sarracenia flava contains the alkaloid coniine, otherwise only found in Conium maculatum, in which its biosynthesis has been studied, and several Aloe species. Its ecological role and biosynthetic origin in S. flava is speculative. The aim of the current research was to investigate the occurrence of coniine in Sarracenia and Darlingtonia and to identify common constituents of both genera, unique compounds for individual variants and floral scent chemicals...
2017: PloS One
https://www.readbyqxmd.com/read/28222115/do-family-and-neighbourhood-matter-in-secondary-school-completion-a-multilevel-study-of-determinants-and-their-interactions-in-a-life-course-perspective
#11
Arnhild Myhr, Monica Lillefjell, Geir Arild Espnes, Thomas Halvorsen
BACKGROUND: Completion of secondary education is important for individuals' future health and health behaviour. The fundamental purpose of this study is to investigate the variation and clustering of school completion in families and neighbourhoods. Secondly, we aim to examine the impact of individuals' family structure and neighbourhood of residence and examine to what extent parental education level moderates these associations. METHODS: Longitudinal register data for 30% of the entire Norwegian population aged 21-27 years in 2010 (N = 107,003) was extracted from Statistic Norway´s event database...
2017: PloS One
https://www.readbyqxmd.com/read/28222102/anln-truncation-causes-a-familial-fatal-acute-respiratory-distress-syndrome-in-dalmatian-dogs
#12
Saila Holopainen, Marjo K Hytönen, Pernilla Syrjä, Meharji Arumilli, Anna-Kaisa Järvinen, Minna Rajamäki, Hannes Lohi
Acute respiratory distress syndrome (ARDS) is the leading cause of death in critical care medicine. The syndrome is typified by an exaggerated inflammatory response within the lungs. ARDS has been reported in many species, including dogs. We have previously reported a fatal familial juvenile respiratory disease accompanied by occasional unilateral renal aplasia and hydrocephalus, in Dalmatian dogs. The condition with a suggested recessive mode of inheritance resembles acute exacerbation of usual interstitial pneumonia in man...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28222097/a-genome-wide-association-study-identifies-a-lncrna-as-risk-factor-for-pathological-inflammatory-responses-in-leprosy
#13
Vinicius M Fava, Jeremy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc, Milton O Moraes, Carolinne Sales-Marques, Mariane M A Stefani, Ana Carla P Latini, Andrea F Belone, Vu Hong Thai, Laurent Abel, Alexandre Alcaïs, Erwin Schurr
Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28222088/gender-differences-in-bladder-cancer-treatment-decision-making
#14
Rachel A Pozzar, Donna L Berry
PURPOSE/OBJECTIVES: To explore gender differences in bladder cancer treatment decision making.
. RESEARCH APPROACH: Secondary qualitative analysis of interview transcripts.
. SETTING: One multidisciplinary genitourinary oncology clinic (Dana-Farber Cancer Institute) and two urology clinics (Brigham and Women's Hospital and Beth Israel Deaconess Medical Center) in Boston, MA.
. PARTICIPANTS: As part of the original study, 45 men and 15 women with bladder cancer participated in individual interviews...
March 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28222087/repetitive-negative-thinking-the-link-between-caregiver-burden-and-depressive-symptoms
#15
Amanda Mitchell, Patrick Pössel
PURPOSE/OBJECTIVES: To explore whether repetitive negative thinking (RNT) mediates the pathway between subscales of caregiver burden and depressive symptoms. 
. DESIGN: Cross-sectional pilot study. 
. SETTING: Bone marrow unit at the University of Louisville Hospital in Kentucky and caregiver support organizations in Louisville.
. SAMPLE: 49 current cancer caregivers who were primarily spouses or partners of individuals with lymphoma or leukemia and provided care for a median of 30 hours each week for 12 months...
March 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#16
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE REPORT: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28221897/variations-among-physicians-in-hospice-referrals-of-patients-with-advanced-cancer
#17
Xiao Wang, Louise S Knight, Anne Evans, Jiangxia Wang, Thomas J Smith
PURPOSE: The benefits of hospice for patients with end-stage disease are well established. Although hospice use is increasing, a growing number of patients are enrolled for ≤ 7 days, a marker of poor quality of care and patient and family dissatisfaction. In this study, we examined variations in referrals among individuals and groups of physicians to assess a potential source of suboptimal hospice use. METHODS: We conducted a retrospective chart review of 452 patients with advanced cancer referred to hospice from a comprehensive cancer center...
February 21, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28221788/substituted-2-aminopyrimidines-selective-for-%C3%AE-7-nicotinic-acetylcholine-receptor-activation-and-association-with-acetylcholine-binding-proteins
#18
Katarzyna Kaczanowska, Gisela Andrea Camacho Hernandez, Larissa Bendiks, Larissa Kohs, Jose Manuel Cornejo Bravo, Michal Harel, M G Finn, Palmer Taylor
Through studies with ligand binding to the acetylcholine binding protein (AChBP), we previously identified a series of 4,6 substituted 2-aminopyrimidines that associate with this soluble surrogate of the nicotinic acetylcholine receptor (nAChR) in a cooperative fashion, not seen for classical nicotinic agonists and antagonists. To examine receptor interactions of this structural family on ligand-gated ion channels, we employed HEK cells transfected with cDNA's encoding three requisite receptor subtypes: α7-nAChR, α4β2-nAChR and a serotonin receptor (5-HT3AR), along with a fluorescent reporter...
February 21, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28221712/discovery-of-myh14-as-an-important-and-unique-deafness-gene-causing-prelingually-severe-autosomal-dominant-non-syndromic-hearing-loss
#19
Bong Jik Kim, Ah Reum Kim, Jin Hee Han, Chung Lee, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: Pathogenic variants of MYH14 have been known to be associated-in either a syndromic or non-syndromic manner-with hearing loss. Interestingly, all reported cases to date of MYH14-related non-syndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset. METHODS: In this study, targeted resequencing (TRS) of known deafness genes was performed to identify the causative variant in two multiplex families segregating AD inherited hearing loss...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28221346/synthesis-of-ent-be-43547a1-reveals-a-potent-hypoxia-selective-anticancer-agent-and-uncovers-the-biosynthetic-origin-of-the-apd-cld-natural-products
#20
Nikolaj L Villadsen, Kristian M Jacobsen, Ulrik B Keiding, Esben T Weibel, Bjørn Christiansen, Thomas Vosegaard, Morten Bjerring, Frank Jensen, Mogens Johannsen, Thomas Tørring, Thomas B Poulsen
Tumour hypoxia is speculated to be a key driver of therapeutic resistance and metastatic dissemination. Consequently, the discovery of new potent agents that selectively target the hypoxic cell population may reveal new and untapped antitumour mechanisms. Here we demonstrate that the BE-43547 subclass of the APD-CLD (amidopentadienoate-containing cyclolipodepsipeptides) natural products possesses highly hypoxia-selective growth-inhibitory activity against pancreatic cancer cells. To enable this discovery, we have developed the first synthesis of the BE-43547-macrocyclic scaffold in 16 steps (longest linear sequence), which also allowed access to the full panel of relative stereoisomers and ultimately to the assignment of stereochemical configuration...
March 2017: Nature Chemistry
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