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https://www.readbyqxmd.com/read/28103510/exo-organoplasty-interventions-a-brief-review-of-past-present-and-future-directions-for-advance-heart-failure-management
#1
REVIEW
Waqas Nawaz, Farhan Ullah Khan, Muhammad Zahid Khan, Wang Gang, Mengqi Yang, Xiaoqian Liao, Li Zhang, Awais Ullah Ihsan, Amjad Khan, Lei Han, Xiaohui Zhou
Heart failure (HF) is a debilitating disease in which abnormal function of the heart leads to imbalance of blood demand to tissues and organs. The pathogenesis of HF is very complex and various factors can contribute including myocardial infarction, ischemia, hypertension and genetic cardiomyopathies. HF is the leading cause of death and its prevalence is expected to increase in parallel with the population age. Different kind of therapeutic approaches including lifestyle modification, medication and pacemakers are used for HF patients in NYHA I-III functional class...
January 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28103011/discovery-of-a-phosphonoacetic-acid-derived-natural-product-by-pathway-refactoring
#2
Todd S Freestone, Kou-San Ju, Bin Wang, Huimin Zhao
The activation of silent natural product gene clusters is a synthetic biology problem of great interest. As the rate at which gene clusters are identified outpaces the discovery rate of new molecules, this unknown chemical space is rapidly growing, as too are the rewards for developing technologies to exploit it. One class of natural products that has been underrepresented is phosphonic acids, which have important medical and agricultural uses. Hundreds of phosphonic acid biosynthetic gene clusters have been identified encoding for unknown molecules...
January 19, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28102863/a-taxonomy-of-medical-uncertainties-in-clinical-genome-sequencing
#3
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, Robert C Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B Waterston, Leslie G Biesecker, Barbara B Biesecker
PURPOSE: Clinical next-generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of an unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. METHODS: Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts and themes were extracted in order to expand on a previously published three-dimensional taxonomy of medical uncertainty...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102331/investigating-causality-in-associations-between-smoking-initiation-and-schizophrenia-using-mendelian-randomization
#4
Suzanne H Gage, Hannah J Jones, Amy E Taylor, Stephen Burgess, Stanley Zammit, Marcus R Munafò
Smoking is strongly associated with schizophrenia. Although it has been widely assumed that this reflects self-medication, recent studies suggest that smoking may be a risk factor for schizophrenia. We performed two-sample bi-directional Mendelian randomization using summary level genomewide association data from the Tobacco And Genetics Consortium and Psychiatric Genomics Consortium. Variants associated with smoking initiation and schizophrenia were combined using an inverse-variance weighted fixed-effects approach...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#5
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28101487/immunoglobulin-g4-related-thyroid-diseases
#6
REVIEW
Dulani Kottahachchi, Duncan J Topliss
Immunoglobulin G4-related disease (IgG4-RD) is a new disease category involving many organ systems, including the endocrine system in general and the thyroid in particular. Since an initial association was made between hypothyroidism and autoimmune (IgG4-related) pancreatitis, more forms of IgG4-related thyroid disease (IgG4-RTD) have been recognized. Four subcategories of IgG4-RTD have so far been identified: Riedel thyroiditis (RT), fibrosing variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis, and Graves disease with elevated IgG4 levels...
December 2016: European Thyroid Journal
https://www.readbyqxmd.com/read/28101158/prevalence-of-carbapenemases-among-high-level-aminoglycoside-resistant-acinetobacter-baumannii-isolates-in-a-university-hospital-in-china
#7
Yanhong Wang, Min Shen, Jingni Yang, Min Dai, Yaowen Chang, Chi Zhang, Guangxin Luan, Baodong Ling, Xu Jia
The prevalence of aminoglycoside resistant enzymes has previously been reported and extended-spectrum β-lactamase among Acinetobacter baumannii. To track the risk of multidrug-resistant A. baumannii, the present study aimed to determine the prevalence of carbapenemases in high-level aminoglycoside resistant A. baumannii over two years. A total of 118 strains of A. baumannii were consecutively collected in the First Affiliated Hospital of Chengdu Medical College, Chengdu, China. These isolates were investigated on the genetic basis of their resistance to aminoglycosides...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100623/temperature-sensitive-lesion-in-the-n-terminal-domain-of-the-rotavirus-polymerase-affects-its-intracellular-localization-and-enzymatic-activity
#8
Allison O McKell, Leslie E W LaConte, Sarah M McDonald
: Temperature-sensitive (ts) mutants of simian rotavirus (RV) strain SA11 have been previously created to investigate the functions of viral proteins during replication. One mutant, SA11-tsC, maps to the gene encoding the VP1 polymerase and shows diminished growth and RNA synthesis at 39°C as compared to 31°C. In the current study, we sequenced all 11 genes of SA11-tsC, confirming the presence of an L138P mutation in the VP1 N-terminal domain and identifying 52 additional mutations in four other viral proteins (VP7, VP4, NSP2, and NSP1)...
January 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28100368/-progress-in-precision-medicine-a-scientific-perspective
#9
B Wang, L M Li
Precision medicine is a new strategy for disease prevention and treatment by taking into account differences in genetics, environment and lifestyles among individuals and making precise diseases classification and diagnosis, which can provide patients with personalized, targeted prevention and treatment. Large-scale population cohort studies are fundamental for precision medicine research, and could produce best evidence for precision medicine practices. Current criticisms on precision medicine mainly focus on the very small proportion of benefited patients, the neglect of social determinants for health, and the possible waste of limited medical resources...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28100272/bibliometric-analysis-of-literature-on-toxic-epidermal-necrolysis-and-stevens-johnson-syndrome-1940-2015
#10
Waleed M Sweileh
BACKGROUND: Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse skin reactions that affect all age groups. In order to better understand literature on this topic, we conducted a bibliometric study using Scopus database to shed light on number and growth of publications, most active countries, institutions, journals and authors involved in publishing articles in this field, citation analysis, top cited articles, international collaboration, role of medications and genetic association...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28098710/stellate-nonhereditary-idiopathic-foveomacular-retinoschisis-accompanied-by-contralateral-peripheral-retinoschisis
#11
Daniel Ahmed, Martin Stattin, Carl Glittenberg, Ilse Krebs, Siamak Ansari-Shahrezaei
PURPOSE: To present a patient with stellate nonhereditary idiopathic foveomacular retinoschisis on one eye and peripheral retinoschisis without foveal affection on the other eye. METHODS: A case report with complete workup of family history and clinical examination, including multimodal imaging with optical coherence tomography and angiography, fluorescein angiography, and infrared fundus imaging. Genetic testing for gene mutation XRLS1 was performed. RESULTS: A white woman with unremarkable medical history presented with stellate foveal splitting of the outer plexiform layer on the right eye and peripheral splitting of the outer plexiform layer on both eyes...
January 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28096903/anxiety-and-depression-symptoms-among-women-attending-group-based-patient-education-courses-for-hereditary-breast-and-ovarian-cancer
#12
Wenche Listøl, Hildegunn Høberg-Vetti, Geir Egil Eide, Cathrine Bjorvatn
BACKGROUND: Women carrying BRCA-mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisions. In order to enhance the genetic counselling session we organized a group-based patient education (GPE) course for women with BRCA-mutations. The study aims were to characterize women attending a group-based patient education (GPE) course for hereditary breast and ovarian cancer, consider the usefulness of the course, evaluate symptoms of anxiety and depression among the participants, and finally investigate whether their levels of anxiety and depression changed from before to after the course session...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28095286/the-relations-between-polycyclic-aromatic-hydrocarbons-exposure-and-1-ohp-levels-as-a-biomarker-of-the-exposure
#13
Zuzana Klöslová, Marek Drímal, Karol Balog, Kvetoslava Koppová, Jarmila Dubajová
BACKGROUND: Polycyclic aromatic hydrocarbons (PAHs) are the products of incomplete combustion or pyrolysis of various organic materials. Their ubiquity in the environment leads to measurable levels of exposure. However, the exposure varies strongly between different regions in Europe. Some PAHs with four or more rings are suspected to be human carcinogens. Therefore, the occupational and/or environmental exposure to PAHs may cause a significant health risk. The aim of investigation is to evaluate current levels of PAH exposure in defined groups of workers...
December 2016: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28095174/medical-oncologists-experiences-in-using-genomic-testing-for-lung-and-colorectal-cancer-care
#14
Stacy W Gray, Benjamin Kim, Lynette Sholl, Angel Cronin, Aparna R Parikh, Carrie N Klabunde, Katherine L Kahn, David A Haggstrom, Nancy L Keating
PURPOSE: Genomic testing improves outcomes for many at-risk individuals and patients with cancer; however, little is known about how genomic testing for non-small-cell lung cancer (NSCLC) and colorectal cancer (CRC) is used in clinical practice. PATIENTS AND METHODS: In 2012 to 2013, we surveyed medical oncologists who care for patients in diverse practice and health care settings across the United States about their use of guideline- and non-guideline-endorsed genetic tests...
January 17, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28094792/identification-of-a-nuclear-respiratory-factor-1-recognition-motif-in-the-apolipoprotein-e-variant-apoe4-linked-to-alzheimer-s-disease
#15
Anne Urfer-Buchwalder, Roman Urfer
Alzheimer's disease affects tens of millions of people worldwide and its prevalence continues to rise. It is caused by a combination of a subject's heredity, environment, lifestyle, and medical condition. The most significant genetic risk factor for late onset Alzheimer's disease is a variant of the apolipoprotein E gene, APOE4. Here we show that the single nucleotide polymorphism rs429358 that defines APOE4 is located in a short sequence motif repeated several times within exon 4 of apolipoprotein E, reminiscent of the structure of transcriptional enhancers...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#16
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28091412/incidence-development-and-prognosis-of-diabetic-kidney-disease-in-china-design-and-methods
#17
Yao-Zheng Yang, Jin-Wei Wang, Fang Wang, Yun-Tao Wu, Hai-Yan Zhao, Min Chen, Lu-Xia Zhang, Shou-Ling Wu, Ming-Hui Zha
BACKGROUND: Although that glomerulonephritis is the major cause of end-stage renal disease in developing countries such as China, the increasing prevalence of diabetes has contributed to the changing spectrum of predialysis chronic kidney disease. Recent studies have revealed an increased proportion of patients with diabetic kidney disease (DKD) in hemodialysis populations in large cities in China. However, studies regarding the clinical phenotype of DKD in China are extremely limited...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28090653/genome-wide-study-links-pnpla3-variant-with-elevated-hepatic-transaminase-after-acute-lymphoblastic-leukemia-therapy
#18
Yiwei Liu, Christian A Fernandez, Colton Smith, Wenjian Yang, Cheng Cheng, John C Panetta, Nancy Kornegay, Chengcheng Liu, Laura B Ramsey, Seth E Karol, Laura J Janke, Eric C Larsen, Naomi Winick, William L Carroll, Mignon L Loh, Elizabeth A Raetz, Stephen P Hunger, Meenakshi Devidas, Jun J Yang, Charles G Mullighan, Jinghui Zhang, William E Evans, Sima Jeha, Ching-Hon Pui, Mary V Relling
Remission induction therapy for acute lymphoblastic leukemia (ALL) includes medications that may cause hepatotoxicity, including asparaginase. We used a genome-wide association study (GWAS) to identify loci associated with elevated alanine transaminase (ALT) levels after induction therapy in children with ALL enrolled on St. Jude Children's Research Hospital (SJCRH) protocols. Germline DNA was genotyped using arrays and exome sequencing. Adjusting for age, body mass index, ancestry, asparaginase preparation and dosage, the PNPLA3 rs738409 (C>G) I148M variant, previously associated with fatty liver disease risk, had the strongest genetic association with ALT (P = 2...
January 16, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28090374/neurophysiological-measures-and-alcohol-use-disorder-aud-hypothesizing-links-between-clinical-severity-index-and-molecular-neurobiological-patterns
#19
Mario Vitali, Carmen Napolitano, Marlene Oscar Berman, Simona Flamminii Minuto, Gemma Battagliese, Maria Luisa Attilia, Eric R Braverman, Marina Romeo, Kenneth Blum, Mauro Ceccanti
BACKGROUND: In 1987, Cloninger proposed a clinical description and classification of different personality traits genetically defined and independent from each other. Moreover, he elaborated a specific test the TCI to investigate these traits/states. The study of craving in Alcohol Use Disorder (AUD) assumed a greater significance, since ever more data seems to suggest a direct correlation between high levels of craving and a higher risk of relapse in alcoholics. Thus, our study aim is to explore the possible correlations among TCI linked molecular neurobiological pattern (s), craving and alcohol addiction severity measures in a sample of Italian alcoholics...
April 2016: Journal of Addiction Research & Therapy
https://www.readbyqxmd.com/read/28089842/curbing-tumorigenesis-and-malignant-progression-through-the-pharmacological-control-of-the-wound-healing-process
#20
REVIEW
Melania Dovizio, Angela Sacco, Paola Patrignani
The prevention of cancer development and its progression is an urgent unmet medical need. Novel knowledge on the biology of cancer has evidenced that genetic changes occurring within cancer cells contribute, but are not sufficient, for tumor promotion and progression. The results of clinical studies and experimental animal models have suggested pursuing new avenues for the prevention of cancer development in the early stages, by using drugs that modulate platelet responses and those interfering with the synthesis and action of the mediators of inflammation...
January 12, 2017: Vascular Pharmacology
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