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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28191586/attention-deficit-hyperactivity-disorder-symptoms-and-low-educational-achievement-evidence-supporting-a-causal-hypothesis
#1
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Erik A Ehli, Eco J C de Geus, Dorret I Boomsma
Attention Deficit Hyperactivity Disorder (ADHD) and educational achievement are negatively associated in children. Here we test the hypothesis that there is a direct causal effect of ADHD on educational achievement. The causal effect is tested in a genetically sensitive design to exclude the possibility of confounding by a third factor (e.g. genetic pleiotropy) and by comparing educational achievement and secondary school career in children with ADHD who take or do not take methylphenidate. Data on ADHD symptoms, educational achievement and methylphenidate usage were available in a primary school sample of ~10,000 12-year-old twins from the Netherlands Twin Register...
February 13, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28187448/impact-of-country-of-birth-on-genetic-testing-of-metastatic-lung-adenocarcinomas-in-france-african-women-exhibit-a-mutational-spectrum-more-similar-to-asians-than-to-caucasians
#2
Raphael Saffroy, Jean-François Morère, Nelly Bosselut, Pasquale F Innominato, Jocelyne Hamelin, Jean Trédaniel, Sophie Masse, Véronique Dussaule-Duchatelle, André Balaton, Pierre Validire, Catherine Guettier, Mohamed Bouchahda, Antoinette Lemoine
BACKGROUND: Limited data are available on the prevalence of oncogenic driver mutations in Caucasian populations, and especially in Europeans. AIM: To evaluate the targetable mutational spectra in unselected patients with lung adenocarcinoma in routine clinical practice from several French hospitals, using the same molecular platform. PATIENTS AND METHODS: Samples from 2,219 consecutive patients with histologically-proven advanced lung adenocarcinoma were centrally analysed at a referenced and certified diagnostic platform in order to test for activating and resistance mutations in EGFR, KRAS, BRAF, ERBB2 and PI3KCA...
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28182962/an-observational-study-of-the-impact-of-genetic-testing-for-pain-perception-in-the-clinical-management-of-chronic-non-cancer-pain
#3
Maneesh Sharma, Svetlana Kantorovich, Chee Lee, Natasha Anand, John Blanchard, Eric T Fung, Brian Meshkin, Ashley Brenton, Steven Richeimer
OBJECTIVE: Pain levels are a key metric in clinical care. However, the assessment of pain is limited to basic questionnaires and physician interpretation, which yield subjective data. Genetic markers of pain sensitivity, such as single nucleotide polymorphisms in the catechol-O-methyltransferase gene, have been shown to be associated with pain perception and have been used to provide objective information about a patient's pain. The goal of this study was to determine if physician treatment adjustments based on genetic tests of pain perception resulted in improved outcomes for patients...
January 30, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28181877/an-in-silico-biomarker-based-method-for-the-evaluation-of-virtual-neuropsychiatric-drug-effects
#4
Peter J Siekmeier
The recent explosion in neuroscience research has markedly increased our understanding of the neurobiological correlates of many psychiatric illnesses, but this has unfortunately not translated into more effective pharmacologic treatments for these conditions. At the same time, researchers have increasingly sought out biological markers, or biomarkers, as a way to categorize psychiatric illness, as these are felt to be closer to underlying genetic and neurobiological vulnerabilities. While biomarker-based drug discovery approaches have tended to employ in vivo (e...
February 9, 2017: Neural Computation
https://www.readbyqxmd.com/read/28181780/diagnosis-treatment-clinical-course-and-prognosis-of-childhood-onset-craniopharyngioma-patients
#5
Hermann L Müller
CONTEXT: For decades gross-total resection was the preferred treatment option in childhood-onset craniopharyngioma, assuming that radical strategies at the time of initial diagnosis and treatment would result in cure. Recent reports on long-term prognosis, novel treatment approaches, and molecular genetics provide new insights into more risk-adapted treatment strategies in order to prevent sequelae such as hypothalamic syndrome. EVIDENCE ACQUISITION: A search for original articles published between 2000 and 2016 was performed in PubMed, Science Citation Index Expanded, EMBASE and Scopus...
February 9, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28179634/rapid-and-cost-effective-high-throughput-sequencing-for-identification-of-germline-mutations-of-brca1-and-brca2
#6
Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, Kazuyoshi Hosomichi, Hua You, Emi Utsuno, Takafumi Sangai, Motoi Nishimura, Kazuyuki Matsushita, Akira Hata, Fumio Nomura, Ituro Inoue
Genetic testing for breast cancer predisposing genes, BRCA1 and BRCA2, can take advantage for early identification of carriers with pathogenic germline mutations. However, conventional approaches based on Sanger sequencing are laborious and expensive. Next-generation sequencing technology has a great impact on investigation of medical genomics and now applied clinical genetics. We provide a protocol based on a pool and capture method followed by high-throughput sequencing, which realizes a rapid, high-quality, high-accuracy and low-cost testing for mutations in BRCA1 and BRCA2 by using small amounts of input DNA...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28178155/complement-mediated-thrombotic-microangiopathy-secondary-to-sepsis-induced-disseminated-intravascular-coagulation-successfully-treated-with-eculizumab-a-case-report
#7
Tomohiro Abe, Akira Sasaki, Taichiro Ueda, Yoshitaka Miyakawa, Hidenobu Ochiai
Secondary thrombotic microangiopathies (TMAs) are induced by several underlying conditions; most are resolved by treating background disease. Eculizumab is a human monoclonal antibody that blocks the final stage of the complement system and effectively treats atypical hemolytic uremic syndrome (aHUS). In this report, we present a patient with TMA secondary to sepsis- induced coagulopathy, who was successfully treated with eculizumab.A 44-year-old woman, who had no special medical history or familial history of TMAs, was admitted on suspicion of septic shock...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28174125/family-history-in-colonoscopy-patients-feasibility-and-performance-of-electronic-and-paper-based-surveys-for-colorectal-cancer-risk-assessment-in-the-outpatient-setting
#8
Tannaz Guivatchian, Erika S Koeppe, Jason R Baker, Cristina Moisa, Matthew Demerath, Caitlin Foor-Pessin, William D Chey, Shanti L Eswaran, Joseph C Kolars, Stacy B Menees, Michael Rajala, Michael D Rice, Rafat Rizk, Joel H Rubenstein, Pratima Sharma, Andrea Todisco, Elena M Stoffel
BACKGROUND AND AIMS: Family history is crucial in stratifying patients' risk for colorectal cancer (CRC). Previous risk assessment tools developed for use in clinic or endoscopy settings have demonstrated suboptimal specificity for identifying patients with hereditary cancer syndromes. Our aim was to test the feasibility and performance of 2 family history surveys (paper and electronic) in individuals presenting for outpatient colonoscopy. METHODS: Patients presenting for outpatient colonoscopy at a tertiary care center were asked to complete a 5 question paper risk assessment survey (short paper survey) either alone or in conjunction with a second, comprehensive electronic family risk assessment survey (comprehensive tablet survey)...
February 4, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28170090/parents-attitudes-toward-genetic-testing-of-children-for-health-conditions-a-systematic-review
#9
REVIEW
Qishan Lim, Brittany C McGill, Veronica F Quinn, Katherine M Tucker, David Mizrahi, Andrea Farkas Patenaude, Meera Warby, Richard J Cohn, Claire E Wakefield
This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28167616/towards-trans-diagnostic-mechanisms-in-psychiatry-neurobehavioral-profile-of-rats-with-a-loss-of-function-point-mutation-in-the-dopamine-transporter-gene
#10
Valentina Vengeliene, Anton Bespalov, Martin Roßmanith, Sandra Horschitz, Stefan Berger, Ana L Relo, Hamid R Noori, Peggy Schneider, Thomas Enkel, Dusan Bartsch, Miriam Schneider, Berthold Behl, Anita C Hansson, Patrick Schloss, Rainer Spanagel
The Research Domain Criteria (RDoC) matrix has been developed to reorient psychiatric research towards measurable behavioral dimensions and underlying mechanisms. Here we used a new genetic rat model with a loss of function point mutation in the dopamine transporter (DAT) gene (Slc6a3_N157K) to systematically study the RDoC matrix (www.nimh.nih.gov/research-priorities/rdoc/constructs/rdoc-matrix.shtml). First, we examined the impact of the Slc6a3_N157K mutation on monoaminergic signaling. We then performed behavioral tests representing each of the five RDoC domains - negative and positive valence systems, cognitive, social, and in arousal/regulatory systems...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28167593/a-review-on-dapsone-hypersensitivity-syndrome-among-chinese-patients-with-an-emphasis-on-preventing-adverse-drug-reactions-with-genetic-testing
#11
REVIEW
Na Wang, Leela Parimi, Hong Liu, Furen Zhang
Dapsone is a bactericidal and bacteriostatic against Mycobacterium leprae, a causative agent of leprosy. Dapsone is also applied in a range of medical fields because of its anti-inflammatory and immunomodulatory effects. Dapsone hypersensitivity syndrome (DHS) is a rare yet serious adverse drug reaction (ADR) caused by dapsone involving multiple organs. We performed a systematic review of published articles describing dapsone-induced hypersensitivity syndrome, including all Chinese articles and the latest literature available in online databases published between October 2009 and October 2015...
February 6, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28163158/neuron-subset-specific-pten-deletion-induces-abnormal-skeletal-activity-in-mice
#12
Joaquin N Lugo, Marjorie H Thompson, Philippe Huber, Gregory Smith, Ronald Y Kwon
Individuals with a history of epilepsy are at higher risk for bone fractures compared to the general population. Although clinical studies support an association between low bone mineral density (BMD) and anti-seizure medications, little is known on whether a history of seizures is linked to altered bone health. Therefore, in this study we tested the hypothesis that bone mass, morphology, and bone mineralization are altered by seizures in genetically epileptic animals and in animals subjected to an episode of status epilepticus...
February 2, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28156254/population-based-description-of-familial-clustering-of-chiari-malformation-type-i
#13
Diana Abbott, Douglas Brockmeyer, Deborah W Neklason, Craig Teerlink, Lisa A Cannon-Albright
OBJECTIVE A population-based genealogical resource with linked medical data was used to define the observed familial clustering of Chiari malformation Type I (CM-I). METHODS All patients with CM-I were identified from the 2 largest health care providers in Utah; those patients with linked genealogical data were used to test hypotheses regarding familial clustering. Relative risks (RRs) in first-, second-, and third-degree relatives were estimated using internal cohort-specific CM-I rates; the Genealogical Index of Familiality (GIF) test was used to test for an excess of relationships between all patients with CM-I compared with the expected distribution of relationships for matched control sets randomly selected from the resource...
February 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28152971/understanding-patterns-of-genetic-risk-evaluation-gre-referral-and-uptake-in-patients-pts-with-epithelial-ovarian-cancer-eoc
#14
Robert Morgan, Lucille A Leong
: 254 Background: EOC is the most common cause of gynecologic cancer death and fifth leading cause in women. ~20% cases are due to identifiable genetic risk (BRCA1/2 in 15%, Lynch syndrome 2%, other germline mutations 6%). Since 2013, National Comprehensive Cancer Network (NCCN) guidelines recommend all women with EOC be referred for GRE, to optimize risk stratification, genetic testing decisions, clinical management, with goal to reduce mortality. Yet physicians under-refer and pts under-utilize genetic services...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28152798/patient-uptake-and-satisfaction-with-advanced-genomic-technologies-offered-through-an-employee-benefit-program
#15
Kelly Z Knickelbein, Julie Goldstein, Sara Riordan, Paul Billings
: 72 Background: Access to advanced genomic technologies for the diagnosis and treatment of cancer is important. As part of an employee benefit program, we offered genomic technologies, such as somatic tumor and inherited germline genetic testing, as well as clinical trial information, medical second opinions, and genetic counseling, as appropriate, to enrollees with cancer. Genetic counselors served as cancer navigators through the process. The study aimed to assess uptake of the services offered and satisfaction with the program...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28150129/psychosocial-factors-associated-with-the-uptake-of-contralateral-prophylactic-mastectomy-among-brca1-2-mutation-noncarriers-with-newly-diagnosed-breast-cancer
#16
Jada G Hamilton, Margaux C Genoff, Melissa Salerno, Kimberly Amoroso, Sherry R Boyar, Margaret Sheehan, Megan Harlan Fleischut, Beth Siegel, Angela G Arnold, Erin E Salo-Mullen, Jennifer L Hay, Kenneth Offit, Mark E Robson
PURPOSE: Women who are newly diagnosed with breast cancer may consider contralateral prophylactic mastectomy (CPM) to reduce their future risk of cancer in their unaffected breast. Pre-surgical BRCA1/2 genetic testing can provide valuable risk information to guide this choice. However, little is understood about why BRCA1/2 mutation noncarriers, who are generally not at substantially elevated risk of contralateral disease, select CPM. METHODS: We examined the uptake of CPM among breast cancer patients identified as BRCA1/2 mutation noncarriers (n = 92) as part of a larger prospective study of the impact of pre-surgical BRCA1/2 testing...
February 1, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28148926/single-nucleotide-variant-proportion-in-genes-a-new-concept-to-explore-major-depression-based-on-dna-sequencing-data
#17
Chenglong Yu, Bernhard T Baune, Julio Licinio, Ma-Li Wong
Major depressive disorder (MDD) is a common psychiatric illness with significant medical and socioeconomic impact. Genetic factors are likely to play important roles in the development of this condition. DNA sequencing technology has the ability to identify all private genetic mutations and provides new channels for studying the biology of MDD. In this proof-of-concept study we proposed a novel concept, single-nucleotide variant proportion (SNVP), to investigate MDD based on whole-genome sequencing (WGS) data...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28146641/which-results-to-return-subjective-judgments-in-selecting-medically-actionable-genes
#18
Gabriel Lázaro-Muñoz, John M Conley, Arlene M Davis, Anya E R Prince, R Jean Cadigan
BACKGROUND: Advances in genomics have led to calls for returning information about medically actionable genes (MAGs) to patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects the harms and benefits of every genetic testing endeavor. Despite published recommendations of selection criteria for MAGs to return, scant data exist regarding how decision makers actually apply such criteria. METHODS: The process and criteria used by researchers when selecting MAGs for a preventive genomic sequencing program targeting the general adult population were examined...
February 1, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28144390/predictors-for-advanced-fibrosis-in-morbidly-obese-non-alcoholic-fatty-liver-patients
#19
Shira Zelber-Sagi, Dafna Shoham, Isabel Zvibel, Subhi Abu-Abeid, Oren Shibolet, Sigal Fishman
AIM: To investigate predictors for fibrosis specifically in a high risk population of morbidly obese patients, including detailed evaluation of lifestyle. METHODS: We conducted a cross-sectional study among morbidly obese patients attending the bariatric clinic at the Tel-Aviv Medical Center between the years 2013-2014 with body mass index (BMI) above 40 or above 35 with co-morbidity. Patients with serum hepatitis B surface antigen or anti-hepatitis C virus antibodies, genetic liver diseases, autoimmune disease or high alcohol intake (≥ 30 g/d in men or ≥ 20 g/d in women) were excluded from the study...
January 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#20
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
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