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https://www.readbyqxmd.com/read/27933543/integrative-analysis-of-genetic-genomic-and-phenotypic-data-for-ethanol-behaviors-a-network-based-pipeline-for-identifying-mechanisms-and-potential-drug-targets
#1
James W Bogenpohl, Kristin M Mignogna, Maren L Smith, Michael F Miles
Complex behavioral traits, such as alcohol abuse, are caused by an interplay of genetic and environmental factors, producing deleterious functional adaptations in the central nervous system. The long-term behavioral consequences of such changes are of substantial cost to both the individual and society. Substantial progress has been made in the last two decades in understanding elements of brain mechanisms underlying responses to ethanol in animal models and risk factors for alcohol use disorder (AUD) in humans...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933541/social-interactions-and-indirect-genetic-effects-on-complex-juvenile-and-adult-traits
#2
David G Ashbrook, Reinmar Hager
Most animal species are social in one form or another, yet many studies in rodent model systems use either individually housed animals or ignore potential confounds caused by group housing. While such social interaction effects on developmental and behavioral traits are well established, the genetic basis of social interactions has not been researched in as much detail. Specifically, the effects of genetic variation in social partners on the phenotype of a focal individual have mostly been studied at the phenotypic level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933531/using-baseline-transcriptional-connectomes-in-rat-to-identify-genetic-pathways-associated-with-predisposition-to-complex-traits
#3
Laura Saba, Paula Hoffman, Boris Tabakoff
Although rat is a critical model organism in preclinical medications development, its use in systems genetics studies remains sparse. The PhenoGen database and website contain detailed information on the qualitative and quantitative aspects of the rat brain, liver, heart, and brown adipose transcriptome. This database has been generated using the HXB/BXH recombinant inbred panel and is being expanded to a hybrid rat diversity panel that includes many common inbred strains as well. By using such a panel, the PhenoGen project has created a renewable and cumulative resource for the rat genomics community...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933213/molecular-pathology-of-cancer-how-to-communicate-with-disease
#4
REVIEW
Peter Birner, Gerald Prager, Berthold Streubel
: Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways...
2016: ESMO Open
https://www.readbyqxmd.com/read/27933179/associations-between-genetics-medical-status-physical-exercise-and-psychological-well-being-in-adults-with-cystic-fibrosis
#5
Lena Backström-Eriksson, Agneta Bergsten-Brucefors, Lena Hjelte, Bo Melin, Kimmo Sorjonen
BACKGROUND: Cystic fibrosis (CF) is the most common autosomal recessive, life-shortening disease among people of European origin. Type of genetic mutation and regular physical exercise has an impact on clinical outcome. This cross-sectional study explores the associations between genetics, medical status, physical exercise and psychological well-being in adult patients with CF. METHODS: Adult patients with CF (N=68; mean age: 32.2; range 18-67 years; 46% women) completed the Cystic Fibrosis Questionnaire-Revised and Hospital Anxiety Depression Scale...
2016: BMJ Open Respiratory Research
https://www.readbyqxmd.com/read/27932355/familial-hypercholesterolemia-phenotype-in-chinese-patients-undergoing-coronary-angiography
#6
Jian-Jun Li, Sha Li, Cheng-Gang Zhu, Na-Qiong Wu, Yan Zhang, Yuan-Lin Guo, Ying Gao, Xiao-Lin Li, Ping Qing, Chuan-Jue Cui, Rui-Xia Xu, Zheng-Wen Jiang, Jing Sun, Geng Liu, Qian Dong
OBJECTIVE: Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation. APPROACH AND RESULTS: A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals...
December 8, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27932233/schizophrenia-risk-alleles-and-neurodevelopmental-outcomes-in-childhood-a-population-based-cohort-study
#7
Lucy Riglin, Stephan Collishaw, Alexander Richards, Ajay K Thapar, Barbara Maughan, Michael C O'Donovan, Anita Thapar
BACKGROUND: Schizophrenia typically onsets after puberty but is often preceded by observable childhood neurodevelopmental impairments. Whether these childhood antecedents index genetic liability is unknown. We used polygenic risk scores derived from a patient discovery sample as indicators of the genetic liability of schizophrenia. Our aim was to identify the early childhood manifestations of this liability in a UK population-based cohort. METHODS: The study sample was the Avon Longitudinal Study of Parents and Children, a prospective population-based cohort study of 14701 children...
December 5, 2016: Lancet Psychiatry
https://www.readbyqxmd.com/read/27931859/contemporary-trends-in-the-management-and-outcomes-of-patients-with-familial-hypercholesterolemia-in-canada-a%C3%A2-prospective-observational-study
#8
Liam R Brunham, Lubomira Cermakova, Terry Lee, Ida Priecelova, Karine Alloul, Marilyn de Chantal, Gordon A Francis, Jiri Frohlich
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic diseases in the world and an important cause of premature cardiovascular (CV) disease. The purpose of this study was to characterize the clinical features, current treatment patterns, and CV outcomes of patients with HeFH in British Columbia, Canada. METHODS: We conducted a longitudinal observational study of patients with HeFH attending a specialized lipid clinic. We collected data on lipid levels, medication use, and CV events at baseline and last follow-up...
September 3, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27931799/oncocytic-papillary-renal-cell-carcinoma-a-clinicopathological-and-genetic-analysis-and-indolent-clinical-course-in-14-cases
#9
Guiyan Han, Wenjuan Yu, Jing Chu, Yan Liu, Yanxia Jiang, Yujun Li, Wei Zhang
A sort of PRCC with distinct eosinophilic cytoplasm named Oncocytic Papillary Renal Cell Carcinoma (OPRCC) has been increasingly attracting the attention of researchers recently. However, owing to the rarity of OPRCC, the clinicopathological and genetic features of the tumor have still not been well elucidated and whether it should be regarded as an independent subtype of PRCC remains controversial. Herein, a cohort of 14 OPRCCs was studied with the aim of revealing the distinct clinicopathological features, facilitating the classification and correct diagnosis of OPRCC...
April 28, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#10
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
December 5, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27931609/clinical-and-biological-insights-into-combined-post-and-pre-capillary-pulmonary-hypertension
#11
Tufik R Assad, Anna R Hemnes, Emma K Larkin, Andrew M Glazer, Meng Xu, Quinn S Wells, Eric H Farber-Eger, Quanhu Sheng, Yu Shyr, Frank E Harrell, John H Newman, Evan L Brittain
BACKGROUND: Pulmonary hypertension (PH) is a common and morbid complication of left heart disease with 2 subtypes: isolated post-capillary pulmonary hypertension (Ipc-PH) and combined post-capillary and pre-capillary pulmonary hypertension (Cpc-PH). Little is known about the clinical or physiological characteristics that distinguish these 2 subphenotypes or if Cpc-PH shares molecular similarities to pulmonary arterial hypertension (PAH). OBJECTIVES: The goal of this study was to test the hypothesis that the hemodynamic and genetic profile of Cpc-PH would more closely resemble PAH than Ipc-PH...
December 13, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27930928/human-enterovirus-d68-in-clinical-and-sewage-samples-in-israel
#12
Merav Weil, Michal Mandelboim, Ella Mendelson, Yossi Manor, Lester Shulman, Daniela Ram, Galia Barkai, Yonat Shemer, Dana Wolf, Zipi Kra-Oz, Leah Weiss, Rakefet Pando, Musa Hindiyeh, Danit Sofer
BACKGROUND: Since mid-August 2014, North America experienced a wide outbreak of Enterovirus D68 (EV-D68) associated with severe respiratory illness in children. Several other countries also reported cases of EV-D68 in 2014. OBJECTIVES: The aim of this study was to determine whether EV-D68 circulated in Israel in 2014, caused severe respiratory illness in children and was the causative agent of Acute Flaccid Paralysis. STUDY DESIGN: Archived clinical respiratory samples from a cohort of 710 hospitalized pediatric patient's (<10years old) with respiratory illness were screened for clade B specific EV-D68 by real-time PCR...
November 30, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/27930734/pathogenic-mutations-in-cancer-predisposing-genes-a-survey-of-300-patients-with-whole-genome-sequencing-and-lifetime-electronic-health-records
#13
Karen Y He, Yiqing Zhao, Elizabeth W McPherson, Quan Li, Fan Xia, Chunhua Weng, Kai Wang, Max M He
BACKGROUND: It is unclear whether and how whole-genome sequencing (WGS) data can be used to implement genomic medicine. Our objective is to retrospectively evaluate whether WGS can facilitate improving prevention and care for patients with susceptibility to cancer syndromes. METHODS AND FINDINGS: We analyzed genetic mutations in 60 autosomal dominant cancer-predisposition genes in 300 deceased patients with WGS data and nearly complete long-term (over 30 years) medical records...
2016: PloS One
https://www.readbyqxmd.com/read/27929526/population-screening-for-brca1-brca2-founder-mutations-in-ashkenazi-jews-proactive-recruitment-compared-with-self-referral
#14
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/27928443/pre-and-post-natal-risk-and-determination-of-factors-for-child-obesity
#15
Trandafir Lm, Temneanu Or
Obesity is considered a condition presenting a complex, multi-factorial etiology that implies genetic and non-genetic factors. The way the available information should be efficiently and strategically used in the obesity and overweight prohylaxisprogrammes for children all over the world is still unclear for most of the risk factors. Mothers' pre-conception weight and weight gain during pregnancy are two of the most important prenatal determinants of childhood obesity. Maternal obesity and gestational weight gain are associated with foetal macrosomia and childhood obesity, and this effect extends into adulthood...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27927935/large-scale-identification-of-patients-with-cerebral-aneurysms-using-natural-language-processing
#16
Victor M Castro, Dmitriy Dligach, Sean Finan, Sheng Yu, Anil Can, Muhammad Abd-El-Barr, Vivian Gainer, Nancy A Shadick, Shawn Murphy, Tianxi Cai, Guergana Savova, Scott T Weiss, Rose Du
OBJECTIVE: To use natural language processing (NLP) in conjunction with the electronic medical record (EMR) to accurately identify patients with cerebral aneurysms and their matched controls. METHODS: ICD-9 and Current Procedural Terminology codes were used to obtain an initial data mart of potential aneurysm patients from the EMR. NLP was then used to train a classification algorithm with .632 bootstrap cross-validation used for correction of overfitting bias. The classification rule was then applied to the full data mart...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27927843/risk-of-childhood-mortality-in-family-members-of-men-with-poor-semen-quality
#17
Heidi A Hanson, Erik N Mayer, Ross E Anderson, Kenneth I Aston, Douglas T Carrell, Justin Berger, William T Lowrance, Ken R Smith, James M Hotaling
STUDY QUESTION: What is the familial childhood mortality in first-degree (FDR) and second-degree relatives (SDR) of patients undergoing semen analysis (SA)? SUMMARY ANSWER: The relationship between infertility and congenital malformations (CM) in offspring is complex, with an increased risk of death due to CM in FDR, but not SDR, of men with lower semen parameters. WHAT IS KNOWN ALREADY: Semen quality is an established predictor of men's somatic health...
December 6, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27927823/secondary-antibody-deficiency-causes-and-approach-to-diagnosis
#18
Sapna Srivastava, Philip Wood
Antibody deficiencies can occur in the context of primary disorders due to inherited genetic defects; however, secondary immune disorders are far more prevalent and can be caused by various diseases and their treatment, certain medications and surgical procedures. Immunoglobulin replacement therapy has been shown to be effective in reducing infections, morbidity and mortality in primary antibody deficiencies but secondary antibody deficiencies are in general poorly defined and there are no guidelines for the management of patients with this condition...
December 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27927793/tumour-biomarkers-homeostasis-as-a-novel-prognostic-indicator
#19
REVIEW
Michela Falco, Giuseppe Palma, Domenica Rea, Davide De Biase, Stefania Scala, Massimiliano D'Aiuto, Gaetano Facchini, Sisto Perdonà, Antonio Barbieri, Claudio Arra
The term 'personalized medicine' refers to a medical procedure that consists in the grouping of patients based on their predicted individual response to therapy or risk of disease. In oncologic patients, a 'tailored' therapeutic approach may potentially improve their survival and well-being by not only reducing the tumour, but also enhancing therapeutic response and minimizing the adverse effects. Diagnostic tests are often used to select appropriate and optimal therapies that rely both on patient genome and other molecular/cellular analysis...
December 2016: Open Biology
https://www.readbyqxmd.com/read/27927211/genetic-variations-of-aldehyde-dehydrogenase-2-and-alcohol-dehydrogenase-1b-are-associated-with-the-etiology-of-atrial-fibrillation-in-japanese
#20
Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Hiroya Matsumura, Shunsuke Tomomori, Michitaka Amioka, Naoya Hironomobe, Chikaaki Motoda, Nozomu Oda, Kazuaki Chayama, Che-Hong Chen, Eric R Gross, Daria Mochly-Rosen, Yasuki Kihara
BACKGROUND: Alcohol consumption and oxidative stress are well-known risk factors for developing atrial fibrillation (AF). Single nucleotide polymorphisms (SNPs) of alcohol dehydrogenase (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) genes encoding enzymes of alcohol and reactive aldehyde metabolism, respectively, are prevalent among East Asians. Here, we examined whether these SNPs were associated with AF in Japanese patients. METHODS AND RESULTS: Five hundred seventy-seven Japanese patients with AF undergoing catheter ablation and 1935 controls at Hiroshima University Hospital were studied...
December 7, 2016: Journal of Biomedical Science
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