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https://www.readbyqxmd.com/read/28240183/influenza-a-virus-nucleoprotein-a-highly-conserved-multi-functional-viral-protein-as-a-hot-antiviral-drug-target
#1
Yanmei Hu, Hannah Sneyd, Raphael Dekant, Jun Wang
Prevention and treatment of influenza virus infection is an ongoing unmet medical need. Each year, thousands of deaths and millions of hospitalizations are attributed to influenza virus infection, which poses a tremendous health and economic burden to the society. Aside from the annual influenza season, influenza viruses also lead to occasional influenza pandemics as a result of emerging or re-emerging influenza strains. Influenza viruses are RNA viruses that exist in quasispecies, meaning that they have a very diverse genetic background...
February 24, 2017: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/28240173/personalized-medicine-of-alcohol-addiction-pharmacogenomics-and-beyond
#2
Vangelis George Manolopoulos, Georgia Ragia
Alcohol addiction or alcoholism is the most severe form of problem drinking. A variety of treatment methods for alcoholism are currently available that combine medications, behavioral treatment and peer support. The drugs that are currently approved by the U.S. Food and Drug Administration (FDA) for treatment of alcohol dependence are disulfiram, naltrexone and acamprosate. For many patients, however, these treatments are not effective. Evidence from a number of different studies suggests that different factors, both psychosocial and economic, as well as genetic variation, are significant contributors to interindividual variation both of clinical presentation of alcohol problems and response to a given treatment...
February 23, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28239961/in-pursuit-of-neurophenotypes-the-consequences-of-having-autism-and-a-big-brain
#3
David G Amaral, Deana Li, Lauren Libero, Marjorie Solomon, Judy Van de Water, Ann Mastergeorge, Letitia Naigles, Sally Rogers, Christine Wu Nordahl
A consensus has emerged that despite common core features, autism spectrum disorder (ASD) has multiple etiologies and various genetic and biological characteristics. The fact that there are likely to be subtypes of ASD has complicated attempts to develop effective therapies. The UC Davis MIND Institute Autism Phenome Project is a longitudinal, multidisciplinary analysis of children with autism and age-matched typically developing controls; nearly 400 families are participating in this study. The overarching goal is to gather sufficient biological, medical, and behavioral data to allow definition of clinically meaningful subtypes of ASD...
February 27, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28239547/unmasking-of-myoclonus-by-lacosamide-in-generalized-epilepsy
#4
Daniel Birnbaum, Mohamad Koubeissi
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28238949/defective-axonal-transport-a-common-pathological-mechanism-in-inherited-and-acquired-peripheral-neuropathies
#5
Robert Prior, Lawrence Van Helleputte, Veronick Benoy, Ludo Van Den Bosch
Peripheral neuropathies are characterized by a progressive and length-dependent loss of peripheral nerve function. This can be caused either by genetic defects, classified as 'inherited peripheral neuropathies', or they can be acquired throughout life. In that case, the disease is caused by various insults such as toxins and mechanical injuries, or it can arise secondary to medical conditions such as metabolic disorders, nutritional deficiencies, inflammation and infections. Peripheral neuropathies are not only very heterogeneous in etiology, but also in their pathology and clinical presentation...
February 23, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#6
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam
PURPOSE: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS...
February 23, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28237852/exploring-risk-factors-for-stuttering-development-in-parkinson-disease-after-deep-brain-stimulation
#7
Marina Picillo, Gustavo B Vincos, Francesco Sammartino, Andres M Lozano, Alfonso Fasano
BACKGROUND: Stuttering is a speech disorder with disruption of verbal fluency, occasionally present in Parkinson's disease (PD). PD co-incident stuttering may either worsen or improve after Deep Brain Stimulation (DBS). METHODS: Sixteen out of 453 PD patients (3.5%) exhibited stuttering after DBS (PD-S) and were compared with a group of patients without stuttering (PD-NS) using non-parametric statistics. RESULTS: After DBS, stuttering worsened in 3 out of 4 patients with co-incidental stuttering...
February 20, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28237404/pharmacogenetics-in-cardiovascular-diseases-state-of-the-art-and-implementation-recommendations-of-the-french-national-network-of-pharmacogenetics-rnpgx
#8
Fabien Lamoureux, Thomas Duflot
The use of genomic markers to predict drug response and effectiveness has the potential to improve healthcare by increasing drug efficacy and minimizing adverse effects. Polymorphisms associated with inter-individual variability in drug metabolism, transport, or pharmacodynamics of major cardiovascular drugs have been identified. These include single nucleotide polymorphisms (SNP) affecting clinical outcomes in patients receiving antiplatelet agents, oral anticoagulants and statins. Based on clinical evidence supporting genetic testing in the management of cardiovascular diseases using these drug classes, this short review presents clinical guidance regarding current pharmacogenetics implementation in routine medical practice...
January 30, 2017: Thérapie
https://www.readbyqxmd.com/read/28237319/epilepsy-treatment-in-adults-and-adolescents-expert-opinion-2016
#9
REVIEW
Jerry J Shih, Julia B Whitlock, Nicole Chimato, Emily Vargas, Steven C Karceski, Ryan D Frank
INTRODUCTION: There are over twenty anti-seizure medications and anti-seizure devices available commercially in the United States. The multitude of treatment options for seizures can present a challenge to clinicians, especially those who are not subspecialists in the epilepsy field. Many clinical questions are not adequately answered in double-blind randomized controlled studies. In the presence of a knowledge gap, many clinicians consult a respected colleague with acknowledged expertise in the field...
February 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28236526/-atypical-atypical-parkinsonism-critical-appraisal-of-a-cohort
#10
Stephanie T Hirschbichler, Roberto Erro, Christos Ganos, Maria Stamelou, Amit Batla, Bettina Balint, Kailash P Bhatia
BACKGROUND: Atypical parkinsonian conditions such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) and Dementia with Lewy bodies (DLB) comprise 10-15% of parkinsonian syndromes. Misdiagnosis with Parkinson disease (PD) and within the entities is common, given the absence of reliable biomarkers. However a correct diagnosis is not only important in clinical practice, but also crucial for any trial attempting to identify biomarkers or new treatments...
December 14, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28236343/tarseqqc-quality-control-on-targeted-sequencing-experiments-in-r
#11
Gabriela A Merino, Yanina A Murua, Cristóbal Fresno, Juan M Sendoya, Mariano Golubicki, Soledad Iseas, Mariana Coraglio, Osvaldo L Podhajcer, Andrea S Llera, Elmer A Fernández
Targeted sequencing is growing as a screening methodology used in research and medical genetics to identify genomic alterations causing human diseases. In general, a list of possible genomic variants is derived from mapped reads through a variant calling step. This processing step is usually based on variant coverage, although it may be affected by several factors. Therefore, under-covered relevant clinical variants may not be reported, impacting on pathology diagnosis or treatment. Thus, a prior quality control of the experiment is critical to determine variant detection accuracy and to avoid erroneous medical conclusions...
February 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/28235819/does-the-risk-of-hospitalisation-for-ischaemic-heart-disease-rise-already-before-widowhood
#12
Elina Einiö, Heta Moustgaard, Pekka Martikainen, Taina Leinonen
BACKGROUND: The death of a spouse has been shown to increase mortality from various causes, including ischaemic heart disease. It is unclear, however, whether cardiac problems are already on the rise before widowhood. METHODS: Using longitudinal register data of Finnish widows-to-be aged 65 and over at baseline (N=19 185), we assessed the risk of hospitalisation for ischaemic heart disease 18 months before and after widowhood. Hospital admissions were derived from national hospital discharge registers between 1996 and 2002...
February 24, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28231072/total-pancreatectomy-with-islet-autotransplantation-resolves-pain-in-young-children-with-severe-chronic-pancreatitis
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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