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https://www.readbyqxmd.com/read/28092683/case-control-association-mapping-by-proxy-using-family-history-of-disease
#1
Jimmy Z Liu, Yaniv Erlich, Joseph K Pickrell
Collecting cases for case-control genetic association studies can be time-consuming and expensive. In some situations (such as studies of late-onset or rapidly lethal diseases), it may be more practical to identify family members of cases. In randomly ascertained cohorts, replacing cases with their first-degree relatives enables studies of diseases that are absent (or nearly absent) in the cohort. We refer to this approach as genome-wide association study by proxy (GWAX) and apply it to 12 common diseases in 116,196 individuals from the UK Biobank...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092654/promoter-polymorphism-of-toll-like-receptor-4-is-associated-with-a-decreased-risk-of-coronary-artery-disease-a-case-control-study-in-the-chinese-han-population
#2
Dandan Sun, Liping Sun, Qian Xu, Honghu Wang, Jun Yang, Yuan Yuan
BACKGROUND Coronary artery disease (CAD) is considered a chronic inflammatory disease of the blood vessels. Toll-like receptor 4 (TLR4) is a transmembrane receptor involved in inflammatory reactions. The aim of this study was to determine the association between polymorphisms in the promoter region and 3'-untranslated region (3'-UTR) of TLR4, and the associated CAD risk. MATERIAL AND METHODS This study enrolled 424 participants with CAD and 424 controls without CAD. The polymorphisms in the promoter region and 3'-UTR of TLR4 were identified from the HapMap database, including rs10116253, rs10983755, and rs11536889...
January 16, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28092339/beta-adrenergic-receptor-blockers-reduce-the-occurrence-of-keloids-and-hypertrophic-scars-after-cardiac-device-implantation-a-single-institution-case-control-study
#3
Tatsuki Enoshiri, Motoko Naitoh, Satoko Yamawaki, Atsushi Kawaguchi, Rino Aya, Kazuo Noda, Yasuhiro Katayama, Takahiro Doi, Tetsuma Kawaji, Shigehiko Suzuki
No abstract text is available yet for this article.
January 12, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28092143/human-leucocyte-antigen-adverse-drug-reaction-associations-from-a-perspective-of-ethnicity
#4
REVIEW
G S Ghattaoraya, D Middleton, E J M Santos, R Dickson, A R Jones, A Alfirevic
Whilst immune-mediated adverse drug reactions (ADRs) are rare, they are potentially life-threatening and present a major problem for clinicians. The underlying mechanisms that cause ADRs are not fully understood although genomewide association studies (GWAS) and case-control investigations have associated human leucocyte antigen (HLA) alleles as risk factors. There is evidence that a patient's ethnic background can have an impact on their risk of developing an ADR. This review summarizes the evidence related to HLA alleles and ADRs with particular focus on patient ethnicity...
February 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28091808/occupational-and-environmental-scleroderma-systematic-review-and-meta-analysis
#5
Manuel Rubio-Rivas, Rafael Moreno, Xavier Corbella
The etiology of systemic sclerosis (SSc) remains unknown; however, several occupational and environmental factors have been implicated. Our objective was to perform a meta-analysis of all studies published on SSc associated with occupational and environmental exposure. The review was undertaken by means of MEDLINE and SCOPUS from 1960 to 2014 and using the terms: "systemic," "scleroderma," or "systemic sclerosis/chemically induced" [MesH]. The Newcastle-Ottawa Scale was used for the qualifying assessment. The inverse variance-weighted method was performed...
January 14, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28091435/influence-of-helicobacter-pylori-infection-on-the-prevalence-and-patterns-of-upper-gastrointestinal-symptoms-in-nigerians-with-diabetes-mellitus
#6
A Oluyemi, E Anomneze, S Smith, O Fasanmade
BACKGROUND: Infection with Helicobacter pylori infection is widespread in our environment. However, whether this fact has any bearing on the prevalence and pattern of symptoms referable to the upper gastrointestinal (GI) system in our population of diabetes mellitus (DM) patients has not been much studied. AIM: We embarked on this study to evaluate if H. pylori infection played any significant role in the prevalence and patterns of upper GI symptoms in type 2 DM patients in Lagos, Nigeria...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28091432/depression-and-posttraumatic-stress-disorder-among-road-traffic-accident-victims-managed-in-a-tertiary-hospital-in-southern-nigeria
#7
J E Asuquo, B E Edet, I E Abang, E A Essien, O G Osakwe, E J Aigbomain, K C Chigbundu
BACKGROUND: Psychological responses to traumatic events vary widely across different cultures but studies in the developing countries are scant. The objective of this study is to determine prevalence of depression and posttraumatic stress disorder (PTSD) among patients involved in road traffic accident (RTA) compared with that of the general population using a matched control group. MATERIALS AND METHODS: The study design was case control and employed the convenient sampling technique...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28091359/phyto-oestrogens-and-colorectal-cancer-risk-a-systematic-review-and-dose-response-meta-analysis-of-observational-studies
#8
Ruijingfang Jiang, Akke Botma, Anja Rudolph, Anika Hüsing, Jenny Chang-Claude
Epidemiological studies suggest that soya consumption as a source of phyto-oestrogens and isoflavones may be associated with a reduced risk of colorectal cancer. However, findings have not yet been synthesised for all groups of phyto-oestrogens. A meta-analysis was conducted to quantify the association between phyto-oestrogens and colorectal cancer risk. Relevant observational studies published up to June 2016 were identified by searching MEDLINE, EMBASE and Cochrane Library databases. Study-specific relative risks (RR) were pooled in both categorical and dose-response meta-analyses...
January 16, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28090804/choline-acetyltransferase-may-contribute-to-the-risk-of-tourette-syndrome-combination-of-family-based-analysis-and-case-control-study
#9
Xiuling Yang, Wenmiao Liu, Mingji Yi, Ru Zhang, Yinglei Xu, Zuzhou Huang, Shiguo Liu, Tang Li
OBJECTIVES: Twin and family analyses have revealed a genetic contribution to Tourette syndrome and postmortem studies have raised the intriguing possibility of a reduction in cholinergic interneuronsin TS patients. METHODS: We selected five tag SNPs (rs100824791, rs12264845, rs1880676, rs3793790 and rs3793798) of Choline Acetyltransferase (CHAT) from the Han Chinese population Hapmap database. Genotyping was conducted on 401 TS nuclear family trios and 405 control subjects...
January 16, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28090465/does-intrauterine-injection-of-low-molecular-weight-heparin-improve-the-clinical-pregnancy-rate-in-intracytoplasmic-sperm-injection
#10
Ahmed Mohamed Kamel, Yahia El-Faissal, Mona Aboulghar, Ragaa Mansour, Gamal I Serour, Mohamed Aboulghar
OBJECTIVE: Heparin can modulate proteins, and influence processes involved in implantation and trophoblastic development. This study aimed to assess the improvement of clinical pregnancy and implantation rates after local intrauterine injection of low-molecular-weight heparin (LMWH) in patients undergoing intracytoplasmic sperm injection (ICSI). METHODS: A randomised case/control design was followed in women scheduled for ICSI. The study arm was injected with intrauterine LMWH during mock embryo transfer immediately following the ovum pickup procedure, while the control arm was given an intrauterine injection with a similar volume of tissue culture media...
December 2016: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28090349/the-association-between-parental-separation-during-childhood-and-obesity-in-adulthood-a-danish-twin-study
#11
J D Petersen, K O Kyvik, B L Heitmann, M E Vámosi
OBJECTIVE: The purpose of this study was to examine if parental separation during childhood is associated with obesity in adulthood. METHODS: A co-twin case-control study of 146 adult same-sexed twin pairs with discordant body mass index (BMI) (i.e. one of the twins should have a BMI of 20-25 kg/m(2), and the co-twin's BMI ≥ 30 kg/m(2)) was selected from Danish Twin Registry (DTR). In total of 236 eligible twin individuals participated in the study. Childhood parental separation (defined as separation from one of the biological parents, regardless of the reason for separation) for at least one year prior to age 17 was self-reported...
December 2016: Obesity Science & Practice
https://www.readbyqxmd.com/read/28090291/macrophage-migration-inhibitory-factor-as-a-novel-biomarker-of-portopulmonary-hypertension
#12
Hilary M DuBrock, Josanna M Rodriguez-Lopez, Barbara L LeVarge, Michael P Curry, Paul A VanderLaan, Zsuzsanna K Zsengeller, Elizabeth Pernicone, Ioana R Preston, Paul B Yu, Ivana Nikolic, Dihua Xu, Ravi I Thadhani, Richard N Channick, S Ananth Karumanchi
Portopulmonary hypertension (POPH) is a poorly understood complication of liver disease associated with significant morbidity and mortality. We sought to identify novel biomarkers of POPH disease presence and severity. We performed a prospective, multicenter, case-control study involving patients with liver disease undergoing right heart catheterization. POPH cases were defined as a mean pulmonary arterial pressure (mPAP) ≥25 mmHg and pulmonary vascular resistance (PVR) >240 dynes˙s˙cm(-5). Plasma samples were collected from the systemic and pulmonary circulation, and antibody microarray was used to identify biomarkers...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28089985/giant-cell-arteritis-related-stroke-a-retrospective-multicenter-case-control-study
#13
Hubert de Boysson, Eric Liozon, Delphine Larivière, Maxime Samson, Jean-Jacques Parienti, Jonathan Boutemy, Gwénola Maigné, Nicolas Martin Silva, Kim Ly, Emmanuel Touzé, Bernard Bonnotte, Achille Aouba, Karim Sacré, Boris Bienvenu
OBJECTIVE: Our aim was to describe patients with giant cell arteritis (GCA)-related stroke and to compare them with a control group of GCA patients without stroke. METHODS: We created a retrospective multicenter cohort of patients with (1) GCA diagnosed according to the American College of Rheumatology criteria between 1995 and 2015, and (2) stroke occurring at the time of GCA diagnosis or occurring within 4 weeks of starting GCA therapy. The control group consisted of GCA patients without stroke...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28089973/malignancies-in-patients-with-anti-rna-polymerase-iii-antibodies-and-systemic-sclerosis-analysis-of-the-eular-scleroderma-trials-and-research-cohort-and-possible-recommendations-for-screening
#14
Maria-Grazia Lazzaroni, Ilaria Cavazzana, Enrico Colombo, Rucsandra Dobrota, Jasmin Hernandez, Roger Hesselstrand, Cecilia Varju, Gabriella Nagy, Vanessa Smith, Paola Caramaschi, Valeria Riccieri, Eric Hachulla, Alexandra Balbir-Gurman, Emmanuel Chatelus, Katarzyna Romanowska-Próchnicka, Ana Carolina Araújo, Oliver Distler, Yannick Allanore, Paolo Airò
OBJECTIVE: To analyze the characteristics of anti-RNA polymerase III antibodies (anti-RNAP3)- positive patients with systemic sclerosis (SSc) in the European League Against Rheumatism Scleroderma Trials and Research group (EUSTAR) registry with a focus on the risk of cancer and the characteristics of malignancies, and the aim to provide guidelines about potential cancer screening in these patients. METHODS: (1) Analysis of the EUSTAR database: 4986 patients with information on their anti-RNAP3 status were included...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28089967/clinical-orofacial-examination-in-juvenile-idiopathic-arthritis-international-consensus-based-recommendations-for-monitoring-patients-in-clinical-practice-and-research-studies
#15
Peter Stoustrup, Marinka Twilt, Lynn Spiegel, Kasper Dahl Kristensen, Bernd Koos, Thomas Klit Pedersen, Annelise Küseler, Randy Q Cron, Shelly Abramowicz, Carlalberta Verna, Timo Peltomäki, Per Alstergren, Ross Petty, Sarah Ringold, Sven Erik Nørholt, Rotraud K Saurenmann, Troels Herlin
OBJECTIVE: To develop international consensus-based recommendations for the orofacial examination of patients with juvenile idiopathic arthritis (JIA), for use in clinical practice and research. METHODS: Using a sequential phased approach, a multidisciplinary task force developed and evaluated a set of recommendations for the orofacial examination of patients with JIA. Phase 1: A Delphi survey was conducted among 40 expert physicians and dentists with the aim of identifying and ranking the importance of items for inclusion...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28089900/the-rs4238326-polymorphism-in-aldh1a2-gene-potentially-associated-with-non-post-traumatic-knee-osteoarthritis-susceptibility-a-two-stage-population-based-study
#16
Minjie Chu, Xiaoyue Zhu, Chunli Wang, Jiesheng Rong, Yidan Wang, Shengyu Wang, Baifen Xing, Yuchun Tao, Xun Zhuang, Liying Jiang
OBJECTIVE: A recent genome-wide association study reported significant associations of genetic variants within the ALDH1A2 gene with osteoarthritis (OA) of the hand in European populations. However, these findings have not been well generalized to other joints, or to other populations. METHODS: We performed a two-stage population-based case-control study including 196 non-post traumatic knee OA cases and 442 controls in the first stage and independent 143 non-post traumatic knee OA cases and 238 controls in the second stage in a Chinese population by genotyping 8 tagging polymorphisms in ALDH1A2...
January 12, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28089571/normo-and-hyperandrogenic-women-with-polycystic-ovary-syndrome-exhibit-an-adverse-metabolic-profile-through-life
#17
Pekka Pinola, Katri Puukka, Terhi T Piltonen, Johanna Puurunen, Eszter Vanky, Inger Sundström-Poromaa, Elisabet Stener-Victorin, Angelica Lindén Hirschberg, Pernille Ravn, Marianne Skovsager Andersen, Dorte Glintborg, Jan Roar Mellembakken, Aimo Ruokonen, Juha S Tapanainen, Laure C Morin-Papunen
OBJECTIVE: To compare the metabolic profiles of normo- and hyperandrogenic women with polycystic ovary syndrome (PCOS) with those of control women at different ages during reproductive life. DESIGN: Case-control study. SETTING: Not applicable. PATIENT(S): In all, 1,550 women with normoandrogenic (n = 686) or hyperandrogenic (n = 842) PCOS and 447 control women were divided into three age groups: <30, 30-39, and >39 years)...
January 12, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28089439/evaluating-the-effect-of-operative-technique-on-leaks-after-laparoscopic-sleeve-gastrectomy-a-case-control-study
#18
Oliver A Varban, Kyle H Sheetz, Ruth B Cassidy, Amanda Stricklen, Arthur M Carlin, Justin B Dimick, Jonathan F Finks
OBJECTIVE: To assess the effect of operative technique on staple line leaks after laparoscopic sleeve gastrectomy (LSG). BACKGROUND: Staple-line leaks after LSG are a major source of morbidity and mortality. Variations in operative technique exist; however, their effect on leaks is poorly understood. METHODS: We analyzed data from the Michigan Bariatric Surgery Collaborative (MBSC) to perform a case-control study comparing patients who had a clinically significant leak after undergoing a primary LSG to those who did not...
December 10, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28089405/use-of-essential-oils-following-traumatic-burn-injury-a-case-study
#19
Kathleen Jopke, Heather Sanders, Rosemary White-Traut
Hospital admissions related to burn injury reach 40,000 annually. Patients who experience extensive burns require longer hospital stays and are at increased risk for infection and hospital acquired conditions. This comparative case study is a two patient matched case control design that follows the hospital course of two children who experienced burn injuries. For one of these patients, with the consent of the child's parents, the grandmother treated her granddaughter with essential oils. Essential oils have the potential to inhibit microbial growth, support treatment of wounds, and facilitate healing...
January 13, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28089071/lead-cadmium-and-mercury-in-cerebrospinal-fluid-and-risk-of-amyotrophic-lateral-sclerosis-a-case-control-study
#20
Marco Vinceti, Tommaso Filippini, Jessica Mandrioli, Federica Violi, Annalisa Bargellini, Jennifer Weuve, Nicola Fini, Peter Grill, Bernhard Michalke
Exposure to neurotoxic chemicals such as pesticides, selenium, and heavy metals have been suggested to play a role in the etiology of amyotrophic lateral sclerosis (ALS). We assessed exposure to lead, cadmium, and mercury in 38 ALS patients (16 men and 22 females) and 38 hospital-admitted controls by using their cerebrospinal fluid (CSF) content as biomarker. We determined CSF heavy metal levels with inductively coupled plasma sector field mass spectrometry, according to a methodology specifically developed for this biological matrix...
January 3, 2017: Journal of Trace Elements in Medicine and Biology
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