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https://www.readbyqxmd.com/read/28231072/total-pancreatectomy-with-islet-autotransplantation-resolves-pain-in-young-children-with-severe-chronic-pancreatitis
#1
Melena D Bellin, Gregory P Forlenza, Kaustav Majumder, Megan Berger, Martin L Freeman, Gregory J Beilman, Ty B Dunn, Timothy L Pruett, Michael Murati, Joshua J Wilhelm, Marie Cook, David E R Sutherland, Sarah J Schwarzenberg, Srinath Chinnakotla
OBJECTIVES: Fear of diabetes and major surgery may prohibit referral of young children severely affected by pancreatitis for total pancreatectomy with islet autotransplant (TPIAT). We evaluated outcomes in our youngest TPIAT recipients, 3 to 8 years of age at surgery. METHODS: Medical records were reviewed for 17 children (9 girls) ages 8 years or younger undergoing TPIAT from 2000 to 2014. Most (14/17) had genetic risk factors for pancreatitis. Since 2006, TPIAT recipients were followed prospectively with health questionnaires including assessments of pain and narcotic use, and scheduled hemoglobin A1c (HbA1c) and mixed-meal tolerance tests (6 mL/kg Boost HP) before surgery, and at regular intervals after...
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#2
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
February 23, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28230170/modeling-continuous-admixture-using-admixture-induced-linkage-disequilibrium
#3
Ying Zhou, Hongxiang Qiu, Shuhua Xu
Recent migrations and inter-ethnic mating of long isolated populations have resulted in genetically admixed populations. To understand the complex population admixture process, which is critical to both evolutionary and medical studies, here we used admixture induced linkage disequilibrium (LD) to infer continuous admixture events, which is common for most existing admixed populations. Unlike previous studies, we expanded the typical continuous admixture model to a more general scenario with isolation after a certain duration of continuous gene flow...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229460/phenome-wide-association-studies-a-new-method-for-functional-genomics-in-humans
#4
Dan M Roden
In experimental physiology research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences. The development of DNA biobanks linked to dense phenotypic information enables such an experiment to be applied to human subjects in form of a phenome-wide association study (PheWAS). The PheWAS paradigm takes advantage of a curated medical phenome, often derived from electronic health records, to search for associations between "input functions" and phenotypes in an unbiased fashion...
February 23, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28228502/the-sudden-death-in-the-young-case-registry-collaborating-to-understand-and-reduce-mortality
#5
Kristin M Burns, Lauren Bienemann, Lena Camperlengo, Carri Cottengim, Theresa M Covington, Heather Dykstra, Meghan Faulkner, Rosemarie Kobau, Alexa B Erck Lambert, Heather MacLeod, Sharyn E Parks, Ellen Rosenberg, Mark W Russell, Carrie K Shapiro-Mendoza, Esther Shaw, Niu Tian, Vicky Whittemore, Jonathan R Kaltman
Knowledge gaps persist about the incidence of and risk factors for sudden death in the young (SDY). The SDY Case Registry is a collaborative effort between the National Institutes of Health, the Centers for Disease Control and Prevention, and the Michigan Public Health Institute. Its goals are to: (1) describe the incidence of SDY in the United States by using population-based surveillance; (2) compile data from SDY cases to create a resource of information and DNA samples for research; (3) encourage standardized approaches to investigation, autopsy, and categorization of SDY cases; (4) develop partnerships between local, state, and federal stakeholders toward a common goal of understanding and preventing SDY; and (5) support families who have lost loved ones to SDY by providing resources on bereavement and medical evaluation of surviving family members...
February 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28228184/a-novel-approach-for-pathway-analysis-of-gwas-data-highlights-role-of-bmp-signaling-and-muscle-cell-differentiation-in-colorectal-cancer-susceptibility-erratum
#6
Aniket Mishra, Stuart MacGregor
The publishers regret to announce that the affiliation for the above paper was incorrectly inserted. The correct affiliation is below: Aniket Mishra1, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) and the Colorectal Cancer Family Registry (CCFR), and Stuart MacGregor1 1 Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
February 23, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28228073/principal-physicochemical-methods-used-to-characterize-dendrimer-molecule-complexes-used-as-genetic-therapy-agents-nanovaccines-or-drug-carriers
#7
Rodríguez Fonseca Rolando Alberto, Rodrigues Joao, Muñoz-Fernández María de Los Angeles, Martínez Muñoz Alberto, Fragoso Vázquez Manuel Jonathan, Correa Basurto José
Nanomedicine is the application of nanotechnology to medicine. This field is related to the study of nanodevices and nanomaterials applied to various medical uses, such as in improving the pharmacological properties of different molecules. Dendrimers are synthetic nanoparticles whose physicochemical properties vary according to their chemical structure. These molecules have been extensively investigated as drug nanocarriers to improve drug solubility and as sustained-release systems. New therapies such as gene therapy and the development of nanovaccines can be improved by the use of dendrimers...
February 20, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28226599/identifying-glaucoma-patients-by-applying-multivariate-analyses-of-cardiovascular-signals
#8
Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Claudia Fischer, Kathleen Kunert, Niklas Plange, Cristina Gonzalez Martinez, Eva Koch, Andreas Voss
Glaucoma is a disease that damages the eye's optic nerve. However, the exact cause of this optic nerve damage is not yet fully understood. Besides the factors of age, genetics and others, such as obesity, medication and migraines, a vascular dysfunction is believed to be a significant factor leading to glaucoma. This study's objective was to investigate whether these vascular dysfunctions could be recognized by analyzing cardiovascular regulation in glaucoma patients. Linear and nonlinear methods were applied to the extracted heart rate (HR), and systolic/ diastolic blood pressure (DBP) time series to discriminate between 35 healthy controls and 20 glaucoma patients...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226326/psoriasis-and-obesity
#9
Peter Jensen, Lone Skov
Psoriasis is a common chronic inflammatory skin disease with a complex pathogenesis consisting of a genetic component, immune dysfunction, and environmental factors. It is associated with numerous comorbidities including psoriatic arthritis, cardiovascular disease, metabolic syndrome, and obesity. Evidence suggests that obesity is a risk factor for incident psoriasis, aggravates existing psoriasis, and that weight reduction may improve the severity of psoriasis in overweight individuals. Excess body weight may interfere with the medical treatment used in psoriasis and adds to the cardiovascular risk profile in these patients, which underscores the importance of effective weight control regimens...
February 23, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28224398/development-of-imaging-biomarkers-and-generation-of-big-data
#10
Ángel Alberich-Bayarri, Rafael Hernández-Navarro, Enrique Ruiz-Martínez, Fabio García-Castro, David García-Juan, Luis Martí-Bonmatí
Several image processing algorithms have emerged to cover unmet clinical needs but their application to radiological routine with a clear clinical impact is still not straightforward. Moving from local to big infrastructures, such as Medical Imaging Biobanks (millions of studies), or even more, Federations of Medical Imaging Biobanks (in some cases totaling to hundreds of millions of studies) require the integration of automated pipelines for fast analysis of pooled data to extract clinically relevant conclusions, not uniquely linked to medical imaging, but in combination to other information such as genetic profiling...
February 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28223670/-clinical-management-of-hboc-in-our-hospital
#11
Hidetaka Nomura, Nobuhiro Takeshima
The cumulative risks of developing epithelial ovarian cancer in women aged 70-75years with BRCA1 and BRCA2 germline mutations are approximately 39-40% and 11-18%, respectively. Here, we present the management of hereditary breast and ovarian cancer(HBOC)in our hospital. HBOC management commences with the selection of appropriate candidates for genetic testing, based on personal and familial characteristics that determine the individual's probability of being a mutation carrier. Pre-test counseling, which is an essential element of genetic counseling, should include discussion of why the test is being offered, how the test results may affect medical management, and the cancer risks associated with the gene mutation...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28223668/-genetic-counseling-of-hboc-and-japanese-organization-of-hboc
#12
Yoshimitsu Fukushima
Genetic testing, which reveals germline mutations, is extremely important for HBOC patients and their families. The evolution of this field has created a need for accurate cancer genetic counseling and risk assessment. Prevention and early therapy are possible in HBOC. If a patient has BRCA1 or BRCA2 mutations, the at-risk relatives should receive the information through genetic counseling. Genetic counseling provides not only information but also psychological and social support so that the patient or subject can autonomously decide...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28220799/impact-of-genetic-background-and-experimental-reproducibility-on-identifying-chemical-compounds-with-robust-longevity-effects
#13
Mark Lucanic, W Todd Plummer, Esteban Chen, Jailynn Harke, Anna C Foulger, Brian Onken, Anna L Coleman-Hulbert, Kathleen J Dumas, Suzhen Guo, Erik Johnson, Dipa Bhaumik, Jian Xue, Anna B Crist, Michael P Presley, Girish Harinath, Christine A Sedore, Manish Chamoli, Shaunak Kamat, Michelle K Chen, Suzanne Angeli, Christina Chang, John H Willis, Daniel Edgar, Mary Anne Royal, Elizabeth A Chao, Shobhna Patel, Theo Garrett, Carolina Ibanez-Ventoso, June Hope, Jason L Kish, Max Guo, Gordon J Lithgow, Monica Driscoll, Patrick C Phillips
Limiting the debilitating consequences of ageing is a major medical challenge of our time. Robust pharmacological interventions that promote healthy ageing across diverse genetic backgrounds may engage conserved longevity pathways. Here we report results from the Caenorhabditis Intervention Testing Program in assessing longevity variation across 22 Caenorhabditis strains spanning 3 species, using multiple replicates collected across three independent laboratories. Reproducibility between test sites is high, whereas individual trial reproducibility is relatively low...
February 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28220199/-novel-pharmaceutical-treatment-approaches-for-gastric-cancer
#14
F Lordick
This review article delineates novel approaches for the pharmaceutical treatment of gastric cancer. A newly developed molecular classification of gastric cancer based on histology, genetic, epigenetic and proteomic characteristics has evolved. It provides a road map for development of new drugs and combinations as well as for patient stratification in clinical research and it is expected to be introduced into clinical practice in the near future. Anti-HER2 targeted treatment is a validated strategy for treatment of metastatic gastric cancer and is now also being studied in the perioperative setting to increase response rates and ultimately survival in patients undergoing curative surgery; however, the resistance mechanisms of HER2-targeted treatment are poorly understood and optimal patient selection remains challenging...
February 20, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28219735/complete-genome-sequence-of-leuconostoc-garlicum-kccm-43211-producing-exopolysaccharide
#15
Sang Pil Hong, Seung Chul Shin, Woo-Kyung Kang, Young-Wook Chin, Timothy L Turner, Hyun Wook Choi, Kyung Mo Song, Hyo Jin Kim
Leuconostoc garlicum KCCM 43211 isolated from traditional Korean fermented food is an intensive producer of exopolysaccharide (EPS). Here we report the first complete genome sequence of L. garlicum KCCM 43211. The genome sequence displayed that this strain contains genes involved in production of EPS possibly composed of glucose monomers. An uncharacterized EPS from the L. garlicum KCCM 43211 strains was also produced during fermentation in the sucrose medium. The MALDI-TOF results displayed the typical mass spectrometry pattern of dextran...
February 17, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28219632/alfred-pischinger-1899-1983-an-austrian-career-in-anatomy-continuing-through-national-socialism-to-postwar-leadership
#16
Sabine Hildebrandt, Gabriele Czarnowski
Despite intensified research efforts on the history of anatomy during National Socialism (NS), many aspects of this story still need further investigation. This study explores the life, work and politics of Alfred Pischinger, Chairman of the Institute for Embryology and Histology in Graz from 1936 to 1945, and in Vienna from 1958 to 1970, and is an addition to previous reports on careers in anatomy continuing through the Third Reich to the postwar period. Pischinger was an illegal NSDAP member in Austria, joined the SA in 1938, served as expert in racial hygiene, and as judge on the Genetic Health High Court of Graz...
February 17, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#17
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28219279/the-medicalization-of-health-and-shared-responsibility
#18
Gianmarco Contino
Public, occupational and environmental health are relatively novel disciplines compared to the ancient history of medicine. Their development, together with a more insightful knowledge of the human pathophysiology (this more usual term is the one used in the article itself), have progressively expanded the field of investigation of medicine to environmental, behavioural and genetic factors that favour the development of certain medical conditions. As a result we have developed numerous additional strategies to monitor health and prevent disease, including interventions in anticipation of diseases themselves when patients are still healthy or in a grey area of increased risk...
April 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28217686/pregnancy-related-osteoporosis-and-spinal-fractures
#19
Ka Yeong Yun, Si Eun Han, Seung Chul Kim, Jong Kil Joo, Kyu Sup Lee
Pregnancy-related osteoporosis is a very rare condition characterized by the occurrence of fracture during pregnancy or the puerperium. Despite its relative rarity, it can be a dangerous condition that causes severe back pain, height loss and disability. Normal physiologic changes during pregnancy, genetic or racial difference, obstetrical history and obstetrical disease, such as preterm labor or pregnancy-induced hypertension, are presumed risk factors of pregnancy-related osteooporosis. However, exact etiology and pathogenesis are uncertain...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28217596/distribution-of-abo-and-rh-types-in-voluntary-blood-donors-in-jharkhand-area-as-a-study-conducted-by-rims-ranchi
#20
Anu Singh, Ramesh Kumar Srivastava, Kabita S Deogharia, Kranti Kumar Singh
BACKGROUND: This study was done to know the distribution and frequencies of blood groups among blood donors attending voluntary blood donation camps organized by the Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand so that demand and supply ratio of the four blood groups can be maintained so that no patient dies due to lack of a particular blood group. CONTEXT: Up till now about 400 red cells antigen have been identified. The majority follow Mendelian inheritance...
July 2016: Journal of Family Medicine and Primary Care
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