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Clinical genetics

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https://www.readbyqxmd.com/read/28110439/combination-of-interleukin-1-polymorphism-and-helicobacter-pylori-infection-an-increased-risk-of-gastric-cancer-in-pakistani-population
#1
Yasir Raza, Adnan Khan, Asif Iqbal Khan, Saeed Khan, Shakeel Akhter, Muhammad Mubarak, Ayaz Ahmed, Shahana Urooj Kazmi
Helicobacter pylori is one of the major risk factors involved in the development ofgastritis and gastric cancer (GC). H. pylori infection leads to increased production of pro-inflammatory cytokines by the host. Carriage of specific polymorphisms in cytokine genes may be associated with host susceptibility to the development of GC. We investigated the role of host genetic factors including polymorphisms of IL-1B and IL-1RN in correlation with gastritis and GC in H. pylori infected Pakistani population. A total of 230 gastritis cases and 100 GC cases were genotyped for IL 1B-511 and IL-1RN penta-allelic variable number of tandem repeats (VNTRs)...
January 21, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28110385/the-prevalence-of-anticitrullinated-protein-antibodies-increases-with-age-in-healthy-individuals-at-risk-for-rheumatoid-arthritis
#2
D Alpizar-Rodriguez, Laure Brulhart, Ruediger B Mueller, Burkhard Möller, Jean Dudler, Adrian Ciurea, Ulrich A Walker, Ines Von Mühlenen, Diego Kyburz, Pascal Zufferey, Michael Mahler, Sylvette Bas, Danielle Gascon, Céline Lamacchia, Pascale Roux-Lombard, Kim Lauper, Michael J Nissen, Delphine S Courvoisier, Cem Gabay, Axel Finckh
Transition from genetic risk to the development of systemic autoimmunity associated with rheumatoid arthritis (RA) is considered a key step for the development of RA and often referred to as the immune onset of the disease. The aim of this study is to identify predictors for the presence of anticitrullinated protein antibodies (ACPA) as a marker of systemic autoimmunity associated with RA in a high-risk population, an ongoing cohort of first-degree relatives of patients with RA. We assessed the presence of ACPA in individuals without clinical evidence of RA...
January 21, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28110369/neuroradiology-of-human-prion-diseases-diagnosis-and-differential-diagnosis
#3
REVIEW
Simona Gaudino, Emma Gangemi, Raffaella Colantonio, Annibale Botto, Emanuela Ruberto, Rosalinda Calandrelli, Matia Martucci, Maria Gabriella Vita, Carlo Masullo, Alfonso Cerase, Cesare Colosimo
Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD...
January 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#4
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wiacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
January 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28110285/validation-of-a-clinical-screening-instrument-for-tumour-predisposition-syndromes-in-patients-with-childhood-cancer-tups-protocol-for-a-prospective-observational-multicentre-study
#5
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, Cora M Aalfs, Jakob K Anninga, Lieke Pv Berger, Fonnet E Bleeker, Eveline Sjm de Bont, Corianne Ajm de Borgie, Charlotte J Dommering, Natasha Ka van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia Mj Hopman, Marjolijn Cj Jongmans, Wijnanda A Kors, Tom Gw Letteboer, Jan Lcm Loeffen, Johannes Hm Merks, Maran Jw Olderode-Berends, Floor Am Postema, Anja Wagner
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28110269/genetic-predictors-of-long-term-graft-function-in-kidney-and-pancreas-transplant-patients
#6
Claire E Duff, Matthew J Simmonds
Kidney and pancreas transplantation have helped transform the lives of people with end-stage renal failure and individuals with type 1 diabetes who have poor glycaemic control/severe secondary complications, respectively. Despite an improvement in immunosuppressive regimes, operative techniques and decreased initial rejection rates, there has been little improvement in long-term graft survival rates over the past decade. Whilst limited progress has been made in establishing clinical markers of graft function, several genetic markers of long-term graft function have been identified...
January 20, 2017: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/28110053/development-and-optimization-of-an-in-vitro-cultivation-protocol-allows-for-isolation-of-borrelia-miyamotoi-from-patients-with-hard-tick-borne-relapsing-fever
#7
Joris Koetsveld, Nadezhda M Kolyasnikova, Alex Wagemakers, Marina G Toporkova, Denis S Sarksyan, Anneke Oei, Alexander E Platonov, Joppe W Hovius
OBJECTIVES: Borrelia miyamotoi has been shown to infect humans in Eurasia and North America causing hard tick-borne relapsing fever (HTBRF). In vitro cultivation of B. miyamotoi was described recently; however, clinical isolation of relapsing fever Borrelia is cumbersome. Our aim was to develop a straightforward protocol enabling B. miyamotoi isolation directly from blood of patients. METHODS: MKP-F media, with or without anticoagulants, or blood from healthy human volunteers, was spiked with B...
January 18, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28109652/epilepsy-in-patients-with-grin2a-alterations-genetics-neurodevelopment-epileptic-phenotype-and-response-to-anticonvulsive-drugs
#8
C von Stülpnagel, M Ensslen, R S Møller, D K Pal, S Masnada, P Veggiotti, E Piazza, M Dreesmann, T Hartlieb, T Herberhold, E Hughes, M Koch, C Kutzer, K Hoertnagel, J Nitanda, M Pohl, K Rostásy, T B Haack, K Stöhr, G Kluger, I Borggraefe
OBJECTIVE: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. METHODS: Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification, treatment, EEG findings, early childhood development and neurodevelopmental outcome were collected with an electronic questionnaire...
January 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28109622/genetics-for-the-identification-of-lipid-targets-beyond-pcsk9
#9
REVIEW
Linda R Wang, Robert A Hegele
From studies of rare families to genome-wide associations in populations, understanding of human genetics has accelerated the search for new drug targets for the prevention of atherosclerotic cardiovascular disease. DNA sequencing and genome-wide analyses of DNA markers have illuminated rare as well as common variants in genes that regulate lipids and ultimately atherosclerosis risk. A recent innovative approach called Mendelian randomization can endorse specific genes and variants as causative not just for lipid disturbances, but also for clinical cardiovascular end points...
November 11, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28109405/challenges-and-methodology-in-the-incorporation-of-biomarkers-in-cancer-clinical-trials
#10
REVIEW
Charlotte S Wilhelm-Benartzi, Shahrul Mt-Isa, Francesca Fiorentino, Robert Brown, Deborah Ashby
Biomarkers can be used to establish more homogeneous groups using the genetic makeup of the tumour to inform the selection of treatment for each individual patient. However, proper preclinical work and stringent validation are needed before taking forward biomarkers into confirmatory studies. Despite the challenges, incorporation of biomarkers into clinical trials could better target appropriate patients, and potentially be lifesaving. The authors conducted a systematic review to describe marker-based and adaptive design methodology for their integration in clinical trials, and to further describe the associated practical challenges...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28109404/how-could-breast-cancer-molecular-features-contribute-to-locoregional-treatment-decision-making
#11
REVIEW
Pelagia G Tsoutsou, Marie-Catherine Vozenin, André-Dante Durham, Jean Bourhis
Systemic treatments are tailored to breast cancer (BC) heterogeneity, which is not yet taken into account for radiotherapy (RT) personalization. The primary objective of this review is to summarize existing data suggesting BC subtypes and genetic assays are prognostic and predictive biomarkers useful for RT decision-making and to provide implications for their incorporation into future translational and clinical research. The evidence suggesting that BC subtypes also exhibit distinct "locoregional recurrence (LRR)" patterns is retrospective but consistent and validated in over fifteen studies...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28109402/frontline-treatment-of-acute-myeloid-leukemia-in-adults
#12
REVIEW
Gevorg Tamamyan, Tapan Kadia, Farhad Ravandi, Gautam Borthakur, Jorge Cortes, Elias Jabbour, Naval Daver, Maro Ohanian, Hagop Kantarjian, Marina Konopleva
Recent years have highlighted significant progress in understanding the underlying genetic and epigenetic signatures of acute myeloid leukemia(AML). Most importantly, novel chemotherapy and targeted strategies have led to improved outcomes in selected genetic subsets. AML is a remarkably heterogeneous disease, and individualized therapies for disease-specific characteristics (considering patients' age, cytogenetics, and mutations) could yield better outcomes. Compared with the historical 5-to 10-year survival rate of 10%, the survival of patients who undergo modern treatment approaches reaches up to 40-50%, and for specific subsets, the improvements are even more dramatic; for example, in acute promyelocytic leukemia, the use of all-trans retinoic acid and arsenic trioxide improved survival from 30 to 40% up to 80 to 90%...
February 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28109293/genetic-instability-and-increased-mutational-load-which-diagnostic-tool-best-direct-patients-with-cancer-to-immunotherapy
#13
Giuseppe Palmieri, Maria Colombino, Antonio Cossu, Antonio Marchetti, Gerardo Botti, Paolo A Ascierto
The occurrence of high rates of somatic mutations in cancer is believed to correspond to increased frequency of neo-epitope formation and tumor immunogenicity. Thus, classification of patients with cancer according to degree a somatic hyper-mutational status could be proposed as a predictive biomarker of responsiveness to immunotherapy with immune checkpoint inhibitors. Here, we discuss the suitable and reliable tests easily adoptable in clinical practice to assess somatic mutational status in patients with advanced cancer...
January 21, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28109201/genetic-analyses-of-the-fusion-protein-genes-in-human-parainfluenza-virus-types-1-and-3-among-patients-with-acute-respiratory-infections-in-eastern-japan-from-2011-to-2015
#14
Rika Tsutsui, Hiroyuki Tsukagoshi, Koo Nagasawa, Masaki Takahashi, Yuki Matsushima, Akihide Ryo, Makoto Kuroda, Hideki Takami, Hirokazu Kimura
PURPOSE: To genetically explorer the fusion protein gene (F) in human parainfluenza virus type 1 (HPIV1) and type 3 (HPIV3) strains, we analyzed them in the patients with acute respiratory infections (ARI) in Eastern Japan from 2011 to 2015. METHODOLOGY: We constructed phylogenetic trees based on the HPIV and HPIV3 F gene using the maximum likelihood method and conducted p-distance, and selective pressure analyses. We also predicted the linear epitopes of the protein in the prototype strains...
January 20, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#15
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28108842/genetic-analysis-of-the-m2-anxa5-haplotype-as-recurrent-pregnancy-loss-predisposition-in-the-malay-population
#16
Kai-Cheen Ang, Sushilnathan Kathirgamanathan, Ewe Seng Ch'ng, Yan-Yeow Lee, Anna-Liza Roslani, Bavanandan Naidu, Krishna Kumar, Ridzuan Abdullah, Siti-Nadiah Abdul Kadir, Narazah Mohd Yusoff, Wan Zaidah Abdullah, Nadja Bogdanova, Peter Wieacker, Arseni Markoff, Thean-Hock Tang
PURPOSE: The aim of this study was to evaluate a new predisposition factor, M2/ANXA5 (RPRGL3), in recurrent pregnancy loss (RPL) patients of Malay origin, since it was previously known that the prevalence of this condition is relatively high among the Malay population of Malaysia, where conventional hereditary thrombophilia factors have been generally ruled out. METHODS: A total of 232 women who had experienced ≥2 unexplained RPL and 141 available male partners were recruited, with 360 healthy Malay and 166 parous female controls...
January 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28108737/dysregulations-in-the-pi3k-pathway-and-targeted-therapies-for-head-and-neck-squamous-cell-carcinoma
#17
Yi Cai, Sonam Dodhia, Gloria H Su
The phosphoinositide 3-kinase (PI3K) signaling pathway is the most commonly mutated pathway in head and neck squamous cell carcinoma (HNSCC). There are several drugs targeting members of the PI3K signaling pathway in development for HNSCC. In this article, we review the genetic alterations reported in the pathway pertinent to HNSCC, various agents in development targeting various mediators of the pathway, results from clinical trials, and remaining challenges in the development of PI3K pathway inhibitors.
January 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108515/prostate-cancer-patients-with-late-radiation-toxicity-exhibit-reduced-expression-of-genes-involved-in-dna-double-strand-break-repair-and-homologous-recombination
#18
Bregje van Oorschot, Lon Uitterhoeve, Ilja Oomen, Rosemarie Ten Cate, Jan Paul Medema, Harry Vrieling, Lukas J A Stalpers, Perry D Moerland, Nicolaas A P Franken
Severe late damage to normal tissue is a major limitation of cancer radiotherapy in prostate cancer patients. In a recent retrospective study, late radiation toxicity was found to relate to a decreased decay of γ-H2AX foci and reduced induction of DNA double strand break repair genes. Here we report evidence of prognostic utility in prostate cancer for γ-H2AX foci decay ratios and gene expression profiles derived from ex vivo-irradiated patient lymphocytes. Patients were followed ≥2 years after radiotherapy...
January 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28108511/biomarker-based-pet-imaging-of-diffuse-intrinsic-pontine-glioma-in-mouse-models
#19
Susanne Kossatz, Brandon Carney, Melanie E Schweitzer, Giuseppe Carlucci, Vesselin Miloushev, Uday B Maachani, Prajwal Rajappa, Kayvan Keshari, David J Pisapia, Wolfgang A Weber, Mark M Souweidane, Thomas Reiner
Diffuse intrinsic pontine glioma (DIPG) is a childhood brainstem tumor with a universally poor prognosis. Here, we characterize on a positron emission tomography (PET) probe for imaging DIPG in vivo. In human histological tissues, the probes target, poly(ADP)ribose polymerase 1 (PARP1), was highly expressed in DIPG compared to normal brain. PET imaging allowed for the sensitive detection of DIPG in a genetically engineered mouse model (GEMM), and probe uptake correlated to histologically determined tumor infiltration...
January 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28108375/the-role-of-pattern-recognition-receptors-in-lung-sarcoidosis
#20
Esmaeil Mortaz, Ian M Adcock, Atefhe Abedini, Arda Kiani, Mehdi Kazempour-Dizaji, Masoud Movassaghi, Johan Garssen
Sarcoidosis is a granulomatous disorder of unknown etiology. Infection, genetic factors, autoimmunity and an aberrant innate immune system have been explored as potential causes of sarcoidosis. The etiology of sarcoidosis remains unknown, and it is thought that it might be caused by an infectious agent in a genetically predisposed, susceptible host. Inflammation results from recognition of evolutionarily conserved structures of pathogens (Pathogen-associated molecular patterns, PAMPs) and/or from reaction to tissue damage associated patterns (DAMPs) through recognition by a limited number of germ line-encoded pattern recognition receptors (PRRs)...
January 17, 2017: European Journal of Pharmacology
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