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Medical genomics

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https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#1
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28644570/clinical-and-genetic-analysis-of-patients-with-cherubism
#2
R A Machado, H A R Pontes, F R Pires, H M Silveira, A Bufalino, R Carlos, F M Tuji, D B M Alves, A R Santos-Silva, M A Lopes, H M Capistrano, R D Coletta, F P Fonseca
OBJECTIVE: To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS: A descriptive analysis of 14 cases from 9 different families was carried out. Clinicopathological, imaging and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS: Females were more affected than males (8:6), and the mean age at diagnosis was 8...
June 23, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28642124/identification-of-genetic-variants-associated-with-huntington-s-disease-progression-a-genome-wide-association-study
#3
Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi
BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. METHODS: We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11)...
June 19, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28641485/microarray-based-gene-expression-analysis-for-veterinary-pathologists-a-review
#4
Barbara B Raddatz, Ingo Spitzbarth, Katja A Matheis, Arno Kalkuhl, Ulrich Deschl, Wolfgang Baumgärtner, Reiner Ulrich
High-throughput, genome-wide transcriptome analysis is now commonly used in all fields of life science research and is on the cusp of medical and veterinary diagnostic application. Transcriptomic methods such as microarrays and next-generation sequencing generate enormous amounts of data. The pathogenetic expertise acquired from understanding of general pathology provides veterinary pathologists with a profound background, which is essential in translating transcriptomic data into meaningful biological knowledge, thereby leading to a better understanding of underlying disease mechanisms...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28640246/gwas-signals-revisited-using-human-knockouts
#5
Sateesh Maddirevula, Fatema AlZahrani, Shams Anazi, Mariam Almureikhi, Tawfeg Ben-Omran, Ghada M H Abdel-Salam, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Neama Meriki, Fahad A Bashiri, Meow-Keong Thong, Premala Muthukumarasamy, Rifhan Azwani Mazlan, Ranad Shaheen, Fowzan S Alkuraya
PurposeGenome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common challenge in GWAS is the interpretation of signals, which are usually attributed to the genes closest to the polymorphic markers that display the strongest statistical association. Naturally occurring complete loss of function (knockout) of these genes in humans can inform GWAS interpretation by unmasking their deficiency state in a clinical context.MethodsWe exploited the unique population structure of Saudi Arabia to identify novel knockout events in genes previously highlighted in GWAS using combined autozygome/exome analysis...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640242/report-on-the-banbury-summit-meeting-on-medical-genetics-training-in-the-genomic-era-23-26-february-2014
#6
Bruce R Korf, Miriam G Blitzer, Laurie A Demmer, Gerald L Feldman, Michael S Watson
No abstract text is available yet for this article.
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640080/immature-enteric-ganglion-cells-were-observed-in-a-13-year-old-colon-signet-ring-cell-carcinoma-patient-a-case-report-and-literature-review
#7
Huili Li, Kun Huang, Hui Wang, Lin Wang, Ming Yang, Lixia Wang, Rong Lin, Hongli Liu, Jinbo Gao, Xiaoming Shuai, Xinghua Liu, Kaixiong Tao, Guobin Wang, Zheng Wang
RATIONALE: All the enteric ganglion cells are fully mature by 2 to 5 years of age in human. No one had reported the presentation of immature enteric ganglion cells in elder ones. Colorectal carcinoma is also rare in the adolescent population. The coincidence of these 2 rare events in a 13-year-old boy has never been reported elsewhere, which may suggest some linkage between them. PATIENT CONCERN: A 13-year-old boy presented with progressive abdominal pain and melena for 3 months...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639489/healthcare-provider-education-to-support-integration-of-pharmacogenomics-in-practice-the-emerge-network-experience
#8
Carolyn R Rohrer Vitek, Noura S Abul-Husn, John J Connolly, Andrea L Hartzler, Terrie Kitchner, Josh F Peterson, Luke V Rasmussen, Maureen E Smith, Sarah Stallings, Marc S Williams, Wendy A Wolf, Cynthia A Prows
Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing and clinical decision support into clinical settings. Recognizing the importance of informed prescribers, a variety of strategies were used to incorporate provider education to support implementation. Education experiences with pharmacogenomics are described within the context of each organization's prior involvement, including the scope and scale of implementation specific to their Electronic Medical Records and Genomics projects...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639053/managing-the-genomic-revolution-in-cancer-diagnostics
#9
Doreen Nguyen, Christopher D Gocke
Molecular tumor profiling is now a routine part of patient care, revealing targetable genomic alterations and molecularly distinct tumor subtypes with therapeutic and prognostic implications. The widespread adoption of next-generation sequencing technologies has greatly facilitated clinical implementation of genomic data and opened the door for high-throughput multigene-targeted sequencing. Herein, we discuss the variability of cancer genetic profiling currently offered by clinical laboratories, the challenges of applying rapidly evolving medical knowledge to individual patients, and the need for more standardized population-based molecular profiling...
June 21, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28634106/biology-evolution-and-medical-importance-of-polyomaviruses-an-update
#10
REVIEW
Ugo Moens, Andi Krumbholz, Bernhard Ehlers, Roland Zell, Reimar Johne, Sébastien Calvignac-Spencer, Chris Lauber
The family Polyomaviridae encompasses non-enveloped viruses with a circular dsDNA genome that is typically approximately 5000bp in length. Originally isolated from mammals, polyomavirus sequences have now been detected in invertebrates, fish, amphibians, reptiles and birds, although it remains to be determined whether all these animals are genuine hosts. The genomes of all polyomaviruses encode at least two regulatory proteins (large and small tumour antigen) and two structural proteins (capsid proteins VP1 and VP2) whose functions have been defined...
June 17, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28633205/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#11
EDITORIAL
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, Timothy J Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group of experts from June 2 to 3, 2016, in Bethesda, Maryland, to develop NHLBI recommendations aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MCS devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
July 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28632283/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#12
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28631399/into-the-storm-chasing-the-opportunistic-pathogen-staphylococcus-aureus-from-skin-colonisation-to-life-threatening-infections
#13
James P O'Gara
Colonisation of the human skin by Staphylococcus aureus is a precursor for a variety of infections ranging from boils to sepsis and pneumonia. The rapid emergence of methicillin resistant S. aureus (MRSA) following the clinical introduction of this antimicrobial drug and reports of resistance to all currently used anti-staphylococcal drugs has added to its formidable reputation. S. aureus survival on the skin and in vivo virulence is underpinned by a remarkable environmental adaptability, made possible by highly orchestrated regulation of gene expression and a capacity to undertake genome remodelling...
June 19, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28629288/p53-mutation-and-epigenetic-imprinted-igf2-h19-gene-analysis-in-mesenchymal-stem-cells-derived-from-amniotic-fluid-amnion-endometrium-and-wharton-s-jelly
#14
Tatsanee Phermthai, Puttachart Pokathikorn, Suparat Wichitwiengrat, Sasiprapa Thongbopit, Kittima Tungprasertpol, Suphakde Julavijitphong
Mesenchymal stem cells (MSC) are promising cells for medical therapy. In in vitro expansion, MSC can give rise to progeny with genomic and epigenomic alterations, resulting in senescence, loss terminal differentiation and transformation to cancer. However, MSC genome protects its genetic instability via a guardian function of the P53 tumor suppressor gene and epigenetic balance system during MSC culture. Mutations of P53 and epigenetic alterations have been reported to disrupt the quality and quantity of MSC and initiate tumorigenesis...
June 19, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28628391/interest-and-attitudes-of-patients-with-advanced-cancer-with-regard-to-secondary-germline-findings-from-tumor-genomic-profiling
#15
Jada G Hamilton, Elyse Shuk, Margaux C Genoff, Vivian M Rodríguez, Jennifer L Hay, Kenneth Offit, Mark E Robson
PURPOSE: Tumor genomic profiling (TGP) can reveal secondary findings about inherited disease risks in a patient with cancer. Little is known about how patients with advanced cancer, currently the primary users of TGP, perceive the benefits and harms of secondary germline findings. METHODS: We conducted semistructured interviews with 40 patients with advanced breast, bladder, colorectal, or lung cancer who had TGP. Qualitative interview data were evaluated by using a thematic content analysis approach...
June 19, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28626479/the-allele-frequency-of-cyp2c9-and-vkorc1-in-the-southern-khorasan-population
#16
Fariba Emadian Razavi, Asghar Zarban, Fatemeh Hajipoor, Mohsen Naseri
The genetic factors are determinants in required dosage changes of warfarin among which are polymorphisms of CYP2C9 and VKORC1 genes. The present study aimed to determine the allele and genotype frequency of CYP2C9 and VKORC1 genes in Birjand population. This study was conducted on 120 individuals who referred to Imam Reza and Vali-Asr hospitals for PT/INR test. After extracting the genomic DNA, the considered sequences were amplified by PCR, and restriction fragment length polymorphism analysis was done by AvaII and KpnI enzymes to determine allele polymorphisms...
June 2017: Research in Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28625302/pharmacogenetics-in-obstetric-anesthesia
#17
REVIEW
Ruth Landau, Richard Smiley
The 21st century has been billed as the era of "precision/personalized medicine." Genetic investigation of clinical syndromes may guide therapy as well as reveal previously unknown biological or pharmacological pathways that may result in novel drug therapies. Several clinical issues in obstetrics and obstetric anesthesiology have been targets for genetic investigations. These include evaluation of the genetic effects on preterm labor and the progression of labor, spinal anesthesia-induced hypotension and the response to medications used to treat hypotension, and the effect of gene variants on pain and analgesic responses...
March 2017: Best Practice & Research. Clinical Anaesthesiology
https://www.readbyqxmd.com/read/28625101/a-versatile-method-for-bladder-segmentation-in-computed-tomography-two-dimensional-images-under-adverse-conditions
#18
João Ribeiro Pinto, João Manuel Rs Tavares
This article presents the design and evaluation of an algorithm for urinary bladder segmentation in medical images, from contrastless computed tomography studies of patients suffering from bladder wall tumours. These situations require versatile methods of segmentation, able to adapt to the structural changes the tumours provoke in the bladder wall, reflected as irregularities on the images obtained, creating adversities to the segmentation process. This semi-automatic method uses fuzzy c-means clustering, a Gaussian-curve-based intensity transformation, and active contour models, requiring only the physician's input of a single seed point for each anatomical view, in order to segment the bladder volume in all frames that include it...
June 1, 2017: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/28625077/microbiome-and-microbial-biofilm-profiles-of-peri-implantitis-a-systematic-review
#19
Gloria Inés Lafaurie, María Alejandra Sabogal, Diana Marcela Castillo, María Victoria Rincón, Luz Amparo Gómez, Yamil Augusto Lesmes, Leandro Chambrone
BACKGROUND: This systematic review assesses the microbiological profiles of peri-implantitis, periodontitis and healthy implants based on studies that evaluated microbial biofilms and entire microbiomes to establish their similarities and differences. METHODS: The Medical Literature Analysis and Retrieval System Online, via PubMed, EMBASE (Excerpta Medica Database) and Cochrane Central Register of Controlled Trials (CENTRAL) were searched without language restrictions through July 30, 2016...
June 19, 2017: Journal of Periodontology
https://www.readbyqxmd.com/read/28623735/biochemical-and-structural-characterization-of-penicillium-purpurogenum-%C3%AE-d-galactosidase-binding-of-galactose-to-an-alternative-pocket-may-explain-enzyme-inhibition
#20
Luis Morales-Quintana, Carolina Faúndez, Raúl Herrera, Vasni Zavaleta, María Cristina Ravanal, Jaime Eyzaguirre, María Alejandra Moya-León
The fungus Penicillium purpurogenum degrades plant cell walls by the action of cellulolytic, xylanolytic and pectinolytic enzymes. The α-D-galactosidase is one of the enzymes which may act on pectin degradation. This enzyme has several biotechnological and medical applications. The aim of this work was to better understand the molecular mechanism of α-D-galactosidase from P. purpurogenum (GALP1). For this purpose, a gene coding for the enzyme was identified from the fungal genome and heterologously expressed in Pichia pastoris...
June 9, 2017: Carbohydrate Research
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