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https://www.readbyqxmd.com/read/28346838/hiv-1-transmission-networks-across-south-korea
#1
Mi Young Ahn, Joel O Wertheim, Woo Joo Kim, Shin-Woo Kim, Jin Soo Lee, Hea Won Ann, Yongduk Jeon, Jin Young Ahn, Je Eun Song, Dong Hyun Oh, Yong Chan Kim, Eun Jin Kim, In Young Jung, Moo Hyun Kim, Wooyoung Jeong, Su Jin Jeong, Nam Su Ku, June Myung Kim, Davey M Smith, Jun Yong Choi
Molecular epidemiology can help clarify the properties and dynamics of HIV-1 transmission networks in both global and regional scales. We studied 143 HIV-1-infected individuals recruited from four medical centers of three cities in South Korea between April 2013 and May 2014. HIV-1 env V3 sequence data were generated (337-793 bp) and analyzed using a pairwise distance-based clustering approach to infer putative transmission networks. Participants whose viruses were ≤2.0% divergent according to Tamura-Nei 93 genetic distance were defined as clustering...
March 27, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28345295/a-national-swedish-longitudinal-twin-sibling-study-of-alcohol-use-disorders-among-males
#2
E C Long, S L Lönn, J Sundquist, K Sundquist, K S Kendler
AIMS: To examine whether genetic influences on the development of alcohol use disorders (AUD) among men during emerging adulthood through mid-adulthood are stable or dynamic. DESIGN: A twin study modeling developmental changes in the genetic and environmental influences on AUD over three age periods (18-25, 26-33, and 33-41) as a Cholesky decomposition. SETTING: Sweden. PARTICIPANTS: Swedish male twin pairs (1,532 monozygotic and 1,940 dizygotic) and 66,033 full male sibling pairs born less than two years apart...
March 26, 2017: Addiction
https://www.readbyqxmd.com/read/28344440/increased-heterogeneity-of-ventricular-repolarization-in-myotonic-dystrophy-type-1-population
#3
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Paola D'Ambrosio, Giovanni Cimmino, Alberto Palladino, Luisa Politano, Gerardo Nigro
Sudden cardiac death in myotonic dystrophy type I (DM1) patients can be attributed to atrioventricular blocks as far as to the development of life-threatening arrhythmias which occur even in hearts with normal left ventricular systolic and diastolic function. Heterogeneity of ventricular repolarization is considered to provide an electrophysiological substrate for malignant arrhythmias. QTc dispersion (QTc-D), JTc dispersion (JTc-D) and transmural dispersion of repolarization (TDR) could reflect the physiological variability of regional and transmural ventricular repolarization...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28343305/clinicopathologic-and-genetic-features-of-primary-bronchopulmonary-mucoepidermoid-carcinoma-the-md-anderson-cancer-center-experience-and-comprehensive-review-of-the-literature
#4
Alireza Salem, Diana Bell, Boris Sepesi, Vassiliki Papadimitrakopoulou, Adel El-Naggar, Cesar A Moran, Neda Kalhor
Primary bronchopulmonary mucoepidermoid carcinoma (BPMEC) is a rare tumor. The fusion protein MECT1-MAML2 has been implicated as a causative genetic event in salivary and BPMECs. Several studies have shown the impact of MECT1-MAML2 on the diagnosis and prognosis of salivary gland mucoepidermoid carcinoma; however, few studies have been published regarding MECT1-MAML2 in the context of primary BPMEC. We describe the clinicopathologic, genetic, and outcome data of 16 patients with BPMEC. Clinicopathologic features were recorded from the electronic medical records...
March 25, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28343295/identification-of-sphingosine-1-phosphate-receptor-subtype-1-s1p1-as-a-pathogenic-factor-in-transient-focal-cerebral-ischemia
#5
Bhakta Prasad Gaire, Chi-Ho Lee, Arjun Sapkota, Sang Yeul Lee, Jerold Chun, Hee Jun Cho, Tae-Gyu Nam, Ji Woong Choi
Medically relevant roles of receptor-mediated sphingosine 1-phosphate (S1P) signaling have become a successful or promising target for multiple sclerosis or cerebral ischemia. Animal-based proof-of-concept validation for the latter is particularly through the neuroprotective efficacy of FTY720, a non-selective S1P receptor modulator, presumably via activation of S1P1. In spite of a clear link between S1P signaling and cerebral ischemia, it remains unknown whether the role of S1P1 is pathogenic or neuroprotective...
March 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28343097/strait-razor-v2s-advancing-sequence-based-str-allele-reporting-and-beyond-to-other-marker-systems
#6
Jonathan L King, Frank R Wendt, Jie Sun, Bruce Budowle
STRait Razor has provided the forensic community a free-to-use, open-source tool for short tandem repeat (STR) analysis of massively parallel sequencing (MPS) data. STRait Razor v2s (SRv2s) allows users to capture physically phased haplotypes within the full amplicon of both commercial (ForenSeq) and "early access" panels (PowerSeq, Mixture ID). STRait Razor v2s may be run in batch mode to facilitate population-level analysis and is supported by all Unix distributions (including MAC OS). Data are reported in tables in string (haplotype), length-based (e...
March 12, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28342662/use-of-brca-mutation-test-in-the-u-s-2004-2014
#7
Fangjian Guo, Jacqueline M Hirth, Yu-Li Lin, Gwyn Richardson, Lyuba Levine, Abbey B Berenson, Yong-Fang Kuo
INTRODUCTION: BRCA mutation testing has been used for screening women at high risk of breast and ovarian cancer and for selecting the best treatment for those with breast cancer. To optimize the infrastructure and medical resources allocation for genetic testing, it is important to understand the use of BRCA mutation testing in the U.S. health system. METHODS: This retrospective cohort study included 53,254 adult women with insurance claims for BRCA mutation testing between 2004 and 2014 from Clinformatics(TM) Data Mart Database...
March 18, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28342271/more-bark-than-bite-comparative-studies-are-needed-to-determine-the-importance-of-canine-zoonoses-in-aboriginal-communities-a-critical-review-of-published-research
#8
REVIEW
F Smout, L Schrieber, R Speare, L F Skerratt
The objective of this review was to identify and critique over forty years of peer-reviewed literature concerned with the transmission of canine zoonoses to Aboriginal people and determine the zoonotic organisms documented in dogs in Australian Aboriginal communities. A systematic literature search of public health, medical and veterinary databases identified 19 articles suitable for critical appraisal. Thirteen articles documented the occurrence of recognized zoonotic organisms in dogs in Aboriginal communities, including Toxocara canis, Dirofilaria immitis, Streptococcus dysgalactiae, Rickettsia felis, Sarcoptes scabiei and Giardia...
March 25, 2017: Zoonoses and Public Health
https://www.readbyqxmd.com/read/28342089/voluntary-induction-and-maintenance-of-alcohol-dependence-in-rats-using-alcohol-vapor-self-administration
#9
Giordano de Guglielmo, Marsida Kallupi, Maury D Cole, Olivier George
RATIONALE: A major issue in the addiction field is the limited number of animal models of the voluntary induction and maintenance of alcohol dependence in outbred rats. OBJECTIVES: To address this issue, we developed a novel apparatus that vaporizes alcohol for 2-10 min after an active nosepoke response. METHODS: Male Wistar rats were allowed to self-administer alcohol vapor for 8 h/day every other day for 24 sessions (escalated) or eight sessions (non-escalated)...
March 24, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28341475/genotypic-and-phenotypic-characteristics-of-crb1-associated-retinal-dystrophies-a-long-term-follow-up-study
#10
Mays Talib, Mary J van Schooneveld, Maria M van Genderen, Jan Wijnholds, Ralph J Florijn, Jacoline B Ten Brink, Nicoline E Schalij-Delfos, Gislin Dagnelie, Frans P M Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A Thiadens, Carel B Hoyng, Caroline C Klaver, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS: A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-corrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography...
March 13, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28340620/stable-high-level-expression-of-factor-viii-in-chinese-hamster-ovary-cells-in-improved-elongation-factor-1-alpha-based-system
#11
Nadezhda A Orlova, Sergey V Kovnir, Alexandre G Gabibov, Ivan I Vorobiev
BACKGROUND: Recombinant factor VIII (FVIII), used for haemophilia A therapy, is one of the most challenging among the therapeutic proteins produced in heterologous expression systems. Deletion variant of FVIII, in which the entire domain B is replaced by a short linker peptide, was approved for medical use. Efficacy and safety of this FVIII deletion variant are similar to full-length FVIII preparations while the level of production in CHO cells is substantially higher. Typical levels of productivity for CHO cell lines producing deletion variant FVIII-BDD SQ, described elsewhere, are 0...
March 24, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28340340/selective-chemical-inhibition-of-pgc-1%C3%AE-gluconeogenic-activity-ameliorates-type-2-diabetes
#12
Kfir Sharabi, Hua Lin, Clint D J Tavares, John E Dominy, Joao Paulo Camporez, Rachel J Perry, Roger Schilling, Amy K Rines, Jaemin Lee, Marc Hickey, Melissa Bennion, Michelle Palmer, Partha P Nag, Joshua A Bittker, José Perez, Mark P Jedrychowski, Umut Ozcan, Steve P Gygi, Theodore M Kamenecka, Gerald I Shulman, Stuart L Schreiber, Patrick R Griffin, Pere Puigserver
Type 2 diabetes (T2D) is a worldwide epidemic with a medical need for additional targeted therapies. Suppression of hepatic glucose production (HGP) effectively ameliorates diabetes and can be exploited for its treatment. We hypothesized that targeting PGC-1α acetylation in the liver, a chemical modification known to inhibit hepatic gluconeogenesis, could be potentially used for treatment of T2D. Thus, we designed a high-throughput chemical screen platform to quantify PGC-1α acetylation in cells and identified small molecules that increase PGC-1α acetylation, suppress gluconeogenic gene expression, and reduce glucose production in hepatocytes...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340307/genetic-diversity-analysis-of-asian-clam-corbicula-fluminea-in-the-hongze-lake-based-on-mitochondrial-cytochrome-b-gene
#13
Chuankun Zhu, Jin Li, Songguang Xie, Huaiyu Ding, Zhengjun Pan, Hui Wang, Guoliang Chang
The Asian clam Corbicula fluminea is a small bivalve with high nutritional and medical values. However, natural resources of C. fluminea have declined in many areas of China including the Hongze Lake. In this study, 119 individuals from 10 sites of this lake and 2 outgroups were analyzed using a 456 bp mitochondrial cytochrome b (cytb) gene segment. Totally, 19 polymorphic sites were detected, which defined 16 haplotypes. Polymorphism varied among the 10 populations with those at the water inlet being more polymorphic...
March 24, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28339689/genomic-decision-support-needs-in-pediatric-primary-care
#14
Jeffrey W Pennington, Dean J Karavite, Edward M Krause, Jeffrey Miller, Barbara A Bernhardt, Robert W Grundmeier
Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the primary care pediatrician in coordinating care for patients who need multidisciplinary support. In addition, the electronic health record (EHR) with embedded clinical decision support is recognized as an important component in providing care in this setting. We interviewed 6 clinicians to assess their experience caring for patients with complex and rare genetic findings and hear their opinions about how the EHR currently supports this role...
February 19, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339664/adult-paget-s-disease-of-bone-a-review
#15
Stephen Paul Tuck, Robert Layfield, Julie Walker, Babitha Mekkayil, Roger Francis
Adult PD of bone is the second commonest metabolic bone condition after osteoporosis. The condition is characterized by increased bone cell activity, with bone-resorbing osteoclasts often larger and containing more nuclei than normal, and osteoblasts producing increased amounts of disorganized bone. This leads to expanded bone of poor quality possessing both sclerotic and lytic areas. PD of bone has a strong genetic element, with a family history being noted in 10-20% of cases. A number of genetic defects have been found to be associated with the condition...
February 17, 2017: Rheumatology
https://www.readbyqxmd.com/read/28339516/improving-a-full-text-search-engine-the-importance-of-negation-detection-and-family-history-context-to-identify-cases-in-a-biomedical-data-warehouse
#16
Nicolas Garcelon, Antoine Neuraz, Vincent Benoit, Rémi Salomon, Anita Burgun
Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). Materials and Methods: We developed a pipeline to process 1...
October 20, 2016: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#17
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#18
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28338027/molar-incisor-hypomineralisation
#19
Greig D Taylor
Data sourcesThe Medline and Embase databases and hand searches in the journals International Journal of Paediatric Dentistry and European Archives of Paediatric Dentistry.Study selectionEnglish language cohort and case-control studies.Data extraction and synthesisStudy selection was carried out independently by two reviewers with data abstraction being conducted by a single reviewer and checked by a second reviewer. Risk of bias was assessed using a modified version of the Newcastle-Ottawa Scale (NOS). Adjusted (aOR) and unadjusted odds ratios (uOR), P-values and 95% confidence intervals (CI) were obtained from the studies...
March 2017: Evidence-based Dentistry
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#20
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
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