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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28631048/celiac-disease-from-etiological-factors-to-evolving-diagnostic-approaches
#1
REVIEW
Anantdeep Kaur, Olga Shimoni, Michael Wallach
Celiac disease has advanced from a medical rarity to a highly prevalent disorder. Patients with the disease show varying degrees of chronic inflammation within the small intestine due to an aberrant immune response to the digestion of gliadin found in wheat. As a result, cytokines and antibodies are produced in celiac patients that can be used as specific biomarkers for developing diagnostic tests. This review paper describes celiac disease in terms of its etiological cause, pathological effects, current diagnostic tests based on mucosal biopsy, and the genetic basis for the disease...
June 19, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28629963/environmental-enrichment-reduces-innate-anxiety-with-no-effect-on-depression-like-behaviour-in-mice-lacking-the-serotonin-transporter
#2
Jake Rogers, Shanshan Li, Laurence Lanfumey, Anthony J Hannan, Thibault Renoir
Along with being the main target of many antidepressant medications, the serotonin transporter (5-HTT) is known to be involved in the pathophysiology of depression and anxiety disorders. In line with this, mice with varying 5-HTT genotypes are invaluable tools to study depression- and anxiety-like behaviours as well as the mechanisms mediating potential therapeutics. There is clear evidence that both genetic and environmental factors play a role in the aetiology of psychiatric disorders. In that regard, housing paradigms which seek to enhance cognitive stimulation and physical activity have been shown to exert beneficial effects in animal models of neuropsychiatric disorders...
June 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28629849/analysis-of-archived-newborn-dried-blood-spots-dbs-identifies-congenital-cytomegalovirus-as-a-major-cause-of-unexplained-pediatric-sensorineural-hearing-loss
#3
Lucy Meyer, Bazak Sharon, Tina C Huang, Abby C Meyer, Kristin E Gravel, Lisa A Schimmenti, Elizabeth C Swanson, Hannah E Herd, Nelmary Hernandez-Alvarado, Kirsten R Coverstone, Mark McCann, Mark R Schleiss
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study...
June 7, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28626473/clinical-applicability-of-whole-exome-sequencing-exemplified-by-a-study-in-young-adults-with-the-advanced-cryptogenic-cholestatic-liver-diseases
#4
Maria Kulecka, Andrzej Habior, Agnieszka Paziewska, Krzysztof Goryca, Michalina Dąbrowska, Filip Ambrozkiewicz, Bożena Walewska-Zielecka, Andrzej Gabriel, Michal Mikula, Jerzy Ostrowski
BACKGROUND: The proper use of new medical tests in clinical practice requires the establishment of their value and range of diagnostic usefulness. While whole-exome sequencing (WES) has already entered the medical practice, recognizing its diagnostic usefulness in multifactorial diseases has not yet been achieved. AIMS: The objective of this study was to establish usability of WES in determining genetic background of chronic cholestatic liver disease (CLD) in young patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28620158/clinical-features-and-sleep-analysis-of-chinese-patients-with-fatal-familial-insomnia
#5
Liyong Wu, Hui Lu, Xianling Wang, Jia Liu, Chaoyang Huang, Jing Ye, Cuijiang Li, Jun Lu, Yuping Wang, Jianping Jia, Shuqin Zhan
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28610746/a-universal-genetic-testing-initiative-for-patients-with-high-grade-non-mucinous-epithelial-ovarian-cancer-and-the-implications-for-cancer-treatment
#6
Erica M Bednar, Holly D Oakley, Charlotte C Sun, Catherine C Burke, Mark F Munsell, Shannon N Westin, Karen H Lu
OBJECTIVE: Genetic counseling (GC) and germline genetic testing (GT) for BRCA1 and BRCA2 are considered standard of care for patients with high-grade, non-mucinous epithelial ovarian, fallopian tube, and primary peritoneal cancers (HGOC). We describe a universal genetic testing initiative to increase the rates of recommendation and acceptance of GC and GT to >80% for patients with HGOC at our institution. METHODS: Data from a consecutive cohort of patients seen in our gynecologic oncology clinics between 9/1/2012 and 8/31/2015 for evaluation of HGOC were retrospectively analyzed...
June 10, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28608853/genetic-tests-in-major-psychiatric-disorders-integrating-molecular-medicine-with-clinical-psychiatry-why-is-it-so-difficult
#7
REVIEW
U Demkow, T Wolańczyk
With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays' medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping)...
June 13, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28597138/advances-in-renal-genetic-diagnosis
#8
REVIEW
Carsten Bergmann
Most genetic disorders are clinically and genetically heterogeneous. Next-generation sequencing (NGS) has revolutionized the field and is providing rapidly growing insights into the pathomechanism of hereditary nephropathies. Current best-practice guidelines for most hereditary nephropathies include genetic diagnostics. The increasing number of genes that have to be considered in patients with hereditary nephropathies is often challenging when addressed by conventional techniques and largely benefits from NGS-based approaches that allow the parallel analysis of all disease genes in a single test at relatively low cost, e...
July 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28594829/mendel-md-a-user-friendly-open-source-web-tool-for-analyzing-wes-and-wgs-in-the-diagnosis-of-patients-with-mendelian-disorders
#9
Raony G C C L Cardenas, Natália D Linhares, Raquel L Ferreira, Sérgio D J Pena
Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new software called Mendel,MD, which combines multiple types of filter options and makes use of regularly updated databases to facilitate exome and genome annotation, the filtering process and the selection of candidate genes and variants for experimental validation and possible diagnosis...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28589870/-making-better-use-of-the-clinical-geneticist-s-expertise-treating-physician-could-request-a-dna-test-for-most-cancer-patients
#10
C M Aalfs, A M Westermann, C G van El
Eight university medical centres in the Netherlands have established clinical genetic services. Patients receive intensive, and therefore costly, genetic counselling before genetic testing takes place. In recent years the number of patients referred to clinical genetic services has risen dramatically, creating waiting-list backlogs. Knowing your carrier status in hereditary cancers, for instance for a BRCA1/2 mutation, can have consequences for surveillance, treatment, and prevention; however, 90% of patients with breast cancer do not have a mutation...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28589536/distinguishing-pathogenic-mutations-from-background-genetic-noise-in-cardiology-the-use-of-large-genome-databases-for-genetic-interpretation
#11
REVIEW
Jonas Ghouse, Morten W Skov, Robert S Bigseth, Gustav Ahlberg, Jørgen K Kanters, Morten S Olesen
Advances in clinical genetic testing has led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings...
June 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28586256/pediatric-palliative-care-a-five-year-retrospective-chart-review-study
#12
Susan E Thrane, Scott H Maurer, Susan M Cohen, Carol May, Susan M Sereika
BACKGROUND: More children are living with serious illness. However, survival and complexity of illnesses have not been described. OBJECTIVE: To describe types of illnesses, timing of referral, and time to death following referral to palliative care; to examine the associations between demographics and clinical characteristics and patient survival; and to examine whether average daily pain decreases after referral. DESIGN: Retrospective chart review of all children ages 2-16 years referred to palliative care at one large children's hospital during the five-year study period from January 1, 2009, through December 31, 2013...
June 6, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28579232/chadox1-and-mva-based-vaccine-candidates-against-mers-cov-elicit-neutralising-antibodies-and-cellular-immune-responses-in-mice
#13
Naif Khalaf Alharbi, Eriko Padron-Regalado, Craig P Thompson, Alexandra Kupke, Daniel Wells, Megan A Sloan, Keith Grehan, Nigel Temperton, Teresa Lambe, George Warimwe, Stephan Becker, Adrian V S Hill, Sarah C Gilbert
The Middle East respiratory syndrome coronavirus (MERS-CoV) has infected more than 1900 humans, since 2012. The syndrome ranges from asymptomatic and mild cases to severe pneumonia and death. The virus is believed to be circulating in dromedary camels without notable symptoms since the 1980s. Therefore, dromedary camels are considered the only animal source of infection. Neither antiviral drugs nor vaccines are approved for veterinary or medical use despite active research on this area. Here, we developed four vaccine candidates against MERS-CoV based on ChAdOx1 and MVA viral vectors, two candidates per vector...
June 1, 2017: Vaccine
https://www.readbyqxmd.com/read/28576652/platelet-function-testing-in-patients-with-acute-ischemic-stroke-an-observational-study
#14
Francesca Rosafio, Nicoletta Lelli, Stefano Mimmi, Laura Vandelli, Guido Bigliardi, Maria Luisa Dell'Acqua, Livio Picchetto, Roberta Pentore, Diana Ferraro, Tommaso Trenti, Paolo Nichelli, Andrea Zini
BACKGROUND: The measurement of platelet reactivity in patients with stroke undergoing antiplatelet therapies is not commonly performed in clinical practice. We assessed the prevalence of therapy responsiveness in patients with stroke and further investigated differences between patients on prevention therapy at stroke onset and patients naive to antiplatelet medications. We also sought differences in responsiveness between etiological subtypes and correlations between Clopidogrel responsiveness and genetic polymorphisms...
May 30, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28573657/safety-assessment-and-global-regulatory-requirements-for-genetic-toxicity-evaluations-of-medical-devices
#15
REVIEW
Robert T Przygoda
Medical devices have the potential to leach substances which, depending on the contact category of the device, can directly contact the human body. Hence, appropriate evaluation for genetic toxicity as part of the biocompatibility risk assessment is critical. The biocompatibility risk assessment of medical devices is guided by the ISO 10993 series of standards. The recently revised ISO 10993-3 (2014) provides guidance on evaluating the genotoxicity, carcinogenicity and reproductive toxicity potential of medical devices...
June 2, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28555114/attitudes-about-future-genetic-testing-for-posttraumatic-stress-disorder-and-addiction-among-community-based-veterans
#16
Michelle R Lent, Stuart N Hoffman, H Lester Kirchner, Thomas G Urosevich, Joseph J Boscarino, Joseph A Boscarino
This study explored attitudes toward hypothetical genetic testing for posttraumatic stress disorder (PTSD) and addiction among veterans. We surveyed a random sample of community-based veterans (n = 700) by telephone. One year later, we asked the veterans to provide a DNA sample for analysis and 41.9% of them returned the DNA samples. Overall, most veterans were not interested in genetic testing neither for PTSD (61.7%) nor for addiction (68.7%). However, bivariate analyses suggested there was an association between having the condition of interest and the likelihood of genetic testing on a 5-point scale (p < 0...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28550590/exome-sequencing-identifies-candidate-genetic-modifiers-of-syndromic-and-familial-thoracic-aortic-aneurysm-severity
#17
Benjamin J Landis, Jeffrey A Schubert, Dongbing Lai, Anil G Jegga, Amy R Shikany, Tatiana Foroud, Stephanie M Ware, Robert B Hinton
Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families...
May 26, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28542123/malaria-surveillance-united-states-2014
#18
Kimberly E Mace, Paul M Arguin
PROBLEM/CONDITION: Malaria in humans is caused by intraerythrocytic protozoa of the genus Plasmodium. These parasites are transmitted by the bite of an infective female Anopheles mosquito. The majority of malaria infections in the United States occur among persons who have traveled to regions with ongoing malaria transmission. However, malaria is occasionally acquired by persons who have not traveled out of the country through exposure to infected blood products, congenital transmission, laboratory exposure, or local mosquitoborne transmission...
May 26, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/28542097/genome-wide-association-and-pathway-analysis-of-left-ventricular-function-after-anthracycline-exposure-in-adults
#19
Quinn S Wells, Olivia J Veatch, Joshua P Fessel, Aron Y Joon, Rebecca T Levinson, Jonathan D Mosley, Elizabeth P Held, Chase S Lindsay, Christian M Shaffer, Peter E Weeke, Andrew M Glazer, Kevin R Bersell, Sara L Van Driest, Jason H Karnes, Marcia A Blair, Lore W Lagrone, Yan R Su, Erica A Bowton, Ziding Feng, Bonnie Ky, Daniel J Lenihan, Michael J Fisch, Joshua C Denny, Dan M Roden
BACKGROUND: Anthracyclines are important chemotherapeutic agents, but their use is limited by cardiotoxicity. Candidate gene and genome-wide studies have identified putative risk loci for overt cardiotoxicity and heart failure, but there has been no comprehensive assessment of genomic variation influencing the intermediate phenotype of anthracycline-related changes in left ventricular (LV) function. The purpose of this study was to identify genetic factors influencing changes in LV function after anthracycline chemotherapy...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28540575/the-yield-and-complications-of-amniocentesis-performed-after-24-weeks-of-gestation
#20
Keren Tzadikevitch Geffen, Ohad Ben-Zvi, Omer Weitzner, Amir Peleg, Tal Biron-Shental, Rivka Sukenik-Halevy
PURPOSE: This study assessed the use and complications of late amniocentesis (AC) and analyzed factors that affect complication rate. METHODS: A retrospective analysis of 167 genetic AC performed after 24 weeks during a 10-year period in two medical centers was conducted. Data regarding the indications for AC, genetic work-up, and pregnancy outcomes were retrieved from patient medical records and telephone-based questionnaires. RESULTS: Mean gestational age (GA) at the time of AC was 31...
May 24, 2017: Archives of Gynecology and Obstetrics
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