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https://www.readbyqxmd.com/read/27915474/racial-differences-in-the-diagnosis-and-treatment-of-prostate-cancer
#1
REVIEW
Giuliano Di Pietro, Ganna Chornokur, Nagi B Kumar, Chemar Davis, Jong Y Park
Disparities between African American and Caucasian men in prostate cancer (PCa) diagnosis and treatment in the United States have been well established, with significant racial disparities documented at all stages of PCa management, from differences in the type of treatment offered to progression-free survival or death. These disparities appear to be complex in nature, involving biological determinants as well as socioeconomic and cultural aspects. We present a review of the literature on racial disparities in the diagnosis of PCa, treatment, survival, and genetic susceptibility...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915419/necrotizing-meningoencephalitis-caused-by-sarcocystis-falcatula-in-bare-faced-ibis-phimosus-infuscatus
#2
Guilherme Konradt, Matheus Viezzer Bianchi, Ronaldo Viana Leite-Filho, Bruna Zafalon da Silva, Rodrigo Martins Soares, Saulo Petinatti Pavarini, David Driemeier
The infection by S. falcatula is commonly associated with respiratory disease in captive psittacine birds, with a few case reports of this protozoan causing encephalitis in wild birds. We describe the clinical, pathological, and molecular aspects of an infection by S. falcatula in a bare-faced ibis (Phimosus infuscatus). Clinically, wing paralysis and mild motor incoordination were observed. At necropsy, the telencephalic cortex showed multifocal to coalescing yellowish soft areas. Histologically, multifocal to coalescent nonsuppurative necrotizing meningoencephalitis of telencephalic cortex, cerebellum, and brainstem was observed...
December 3, 2016: Parasitology Research
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#3
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27915218/parental-bonding-and-hoarding-in-obsessive-compulsive-disorder
#4
David Chen, O Joseph Bienvenu, Janice Krasnow, Ying Wang, Marco A Grados, Bernadette Cullen, Fernando S Goes, Brion Maher, Benjamin D Greenberg, Nicole C McLaughlin, Steven A Rasmussen, Abby J Fyer, James A Knowles, James T McCracken, John Piacentini, Dan Geller, David L Pauls, S Evelyn Stewart, Dennis L Murphy, Yin-Yao Shugart, Mark A Riddle, Gerald Nestadt, Jack Samuels
BACKGROUND: Hoarding behavior may indicate a clinically and possibly etiologically distinct subtype of obsessive-compulsive disorder (OCD). Empirical evidence supports a relationship between hoarding and emotional over-attachment to objects. However, little is known about the relationship between hoarding and parental attachment in OCD. METHOD: The study sample included 894 adults diagnosed with DSM-IV OCD who had participated in family and genetic studies of OCD...
November 14, 2016: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/27915083/pharmacodynamic-and-cytogenetic-evaluation-in-cyp2c19-2-and-cyp2c19-3-allelomorphism-in-south-indian-population-with-clopidogrel-therapy
#5
Javeed Ahmad Tantray, K Pratap Reddy, Kaiser Jamil, Y Shiva Kumar
BACKGROUND: Genetic factors play a significant role in pathogenesis of most diseases of heart. The present study was undertaken to correlate coronary artery disease with demographical, biochemical alterations, SNPs, gene expression and chromosomal abnormalities and for further enlightening the investigation in this field. METHODS: 150 patients taking clopidogrel drug were selected and single nucleotide polymorphism was done by PCR-RFLP techniques. With the same patients cytogenetic analysis was carried out on leukocyte cultures by karyotyping...
November 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27915062/rosette-forming-glioneuronal-tumor-originating-from-the-spinal-cord-report-of-two-cases-and-literature-review
#6
Lian Duan, Yunkun Zhang, Weilun Fu, Sumin Geng
Rosette-forming glioneuronal tumor (RGNT) is a recently recognized and rarely encountered tumor occurring in the fourth ventricle. Histologically, it is composed by two distinct features: a glial component, resembling pilocytic astrocytoma, and a neurocytic component forming neurocytic rosettes and/or perivascular rosettes. The authors describe two extremely rare cases of RGNT arising from the spinal cord, which were misdiagnosed as ependymoma and astrocytoma preoperatively. Symptoms included dissociated sensory disturbance, episodic pain and fatigue, as well as motor disturbance, had been presented for two years and two months, respectively...
November 30, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27915025/molecular-analysis-of-the-agxt-gene-in-patients-suspected-with-hyperoxaluria-type-1-and-three-novel-mutations-from-turkey
#7
Emel Isiyel, Sevcan A Bakkaloglu Ezgu, Salim Caliskan, Sema Akman, Ipek Akil, Yilmaz Tabel, Nurver Akinci, Elif Bahat Ozdogan, Ahmet Ozel, Fehime Kara Eroglu, Fatih S Ezgu
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1...
November 1, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27914961/expanding-the-clinical-and-genetic-spectrum-of-g6pd-deficiency-the-occurrence-of-bcgitis-and-novel-missense-mutation
#8
Taj Ali Khan, Humaira Mazhar, Mehboob Nawaz, Kalsoom Kalsoom, Muhammad Ishfaq, Huma Asif, Hazir Rahman, Muhammad Qasim, Farkhanda Naz, Mubashir Hussain, Baharullah Khattak, Waheed Ullah, Otavio Cabral-Marques, Jawad Butt, Asif Iqbal
Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway that ensures sufficient production of coenzyme nicotinamide adenine dinucleotide phosphate (NADPH) by catalyzing the reduction of NADP+ to NADPH. Noteworthy, the latter mediates the production of reactive oxygen species (ROS) by phagocytic cells such as neutrophils and monocytes. Therefore, patients with severe forms of G6PD deficiency may present impaired NADPH oxidase activity and become susceptible to recurrent infections...
November 30, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27914959/virulence-traits-and-different-nle-profiles-in-cattle-and-human-verotoxin-producing-escherichia-coli-o157-h7-strains-from-argentina
#9
Juliana González, Andrea Mariel Sanso, Jimena Soledad Cadona, Ana Victoria Bustamante
Verotoxin-producing E. coli (VTEC) O157:H7 is the dominant serotype isolated from patients with HUS and, Argentina has the highest rate of HUS in the world. Molecular typing had allowed to identify subpopulations related to the origin and virulence of O157:H7 strains. Our aim was to perform a genetic characterization of 43 O157:H7 strains isolated in Argentine mostly from cattle and humans in order to establish the potential public health risk. For it, we used a combination of molecular subtyping methods in order to identify clade 8_rhsA (C3468G), LSPA-6 and virulence profiles and, a cytotoxicity assay on Vero cell...
November 30, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27914767/smad-4-gene-expression-in-human-colorectal-cancer-comparison-with-some-clinical-and-pathological-parameters
#10
Agnieszka Wosiak, Damian Wodziński, Marcin Kolasa, Aleksandra Sałagacka-Kubiak, Ewa Balcerczak
The aim of this study was to evaluate the expression of SMAD-4 gene in cases of colorectal cancer and to link the obtained data with the development of this disease. SMAD-4 gene is responsible for the control of many important cellular processes, for example prevention of excessive epithelial cell growth and divisions. This suppressor gene is located on chromosome 18 within the region with frequent genetic losses in colorectal cancer. Inactivation of this gene is commonly found in pancreatic cancer where the SMAD-4 gene lost in the expression has been associated with a poor prognosis in this cancer...
October 26, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27914702/renal-xenotransplantation-experimental-progress-and-clinical-prospects
#11
Martin Wijkstrom, Hayato Iwase, Wayne Paris, Hidetaka Hara, Mohamed Ezzelarab, David K C Cooper
There are >100,000 patients waiting for kidney transplants in the United States and a vast need worldwide. Xenotransplantation, in the form of the transplantation of kidneys from genetically engineered pigs, offers the possibility of overcoming the chronic shortage of deceased and living human donors. These genetic manipulations can take the form of (i) knockout of pig genes that are responsible for the expression of antigens against which the primate (human or nonhuman primate) has natural "preformed" antibodies that bind and initiate complement-mediated destruction or (ii) the insertion of human transgenes that provide protection against the human complement, coagulation, or inflammatory responses...
November 30, 2016: Kidney International
https://www.readbyqxmd.com/read/27914655/crohn-s-disease
#12
REVIEW
Joana Torres, Saurabh Mehandru, Jean-Frédéric Colombel, Laurent Peyrin-Biroulet
Crohn's disease is a chronic inflammatory disease of the gastrointestinal tract, with increasing incidence worldwide. Crohn's disease might result from a complex interplay between genetic susceptibility, environmental factors, and altered gut microbiota, leading to dysregulated innate and adaptive immune responses. The typical clinical scenario is a young patient presenting with abdominal pain, chronic diarrhoea, weight loss, and fatigue. Assessment of disease extent and of prognostic factors for complications is paramount to guide therapeutic decisions...
November 30, 2016: Lancet
https://www.readbyqxmd.com/read/27914489/rationale-and-design-of-the-east-west-late-lumen-loss-study-comparison-of-late-lumen-loss-between-eastern-and-western-drug-eluting-stent-study-cohorts
#13
Robert W Harrison, Vaishnavi Radhakrishnan, Peter S Lam, Dominic J Allocco, Sandeep Brar, Martin Fahy, Rebecca Fisher, Fumiaki Ikeno, Philippe Généreux, Takeshi Kimura, Minglei Liu, Weng Kit Lye, Gary S Mintz, Hirofumi Nagai, Yuka Suzuki, Roseann White, John C Allen, Mitchell W Krucoff
BACKGROUND: The contemporary evaluation of novel drug-eluting stents (DES) includes mechanistic observations that characterize postdeployment stent behavior. Quantification of late lumen loss due to neointimal hyperplasia 8-13 months after stent implantation, via quantitative coronary angiography (QCA), constitutes such an observation and is required by most regulatory authorities. Late lumen loss, as determined by QCA, has been validated as a surrogate for clinical endpoints such as target vessel revascularization...
December 2016: American Heart Journal
https://www.readbyqxmd.com/read/27914482/familial-vs-sporadic-sarcoidosis-btnl2-polymorphisms-clinical-presentations-and-outcomes-in-a-french-cohort
#14
Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn, Claire Bardel, Dominique Valeyre
BACKGROUND: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated. RESULTS: The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 140 families. The logistic multivariate model showed that a young age at diagnosis and the combination of lung and skin involvement at diagnosis may distinguish sporadic from familial sarcoidosis (p = 0...
December 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27914246/tract-based-analysis-of-white-matter-integrity-in-psychotic-and-nonpsychotic-bipolar-disorder
#15
Andrew Ji, Douglass Godwin, Jerrel Rutlin, Sridhar Kandala, Joshua S Shimony, Daniel Mamah
BACKGROUND: At least 50% of individuals with bipolar disorder (BD) present with psychosis during their lifetime. Psychotic symptoms have sometimes been linked to specific genetic and phenotypic markers. This study aims to explore potential differences between bipolar disorder subtypes by measuring white matter integrity of the brain and relationships with clinical measures. METHODS: Diffusion tensor imaging and clinical measures were acquired from 102 participants, grouped as psychotic bipolar disorder (PBD) (n=48), non-psychotic bipolar disorder (NBD) (n=24), and healthy controls (n=30)...
November 27, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#16
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27914217/hla-g-3-untranslated-region-polymorphic-sites-associated-with-increased-hla-g-production-are-more-frequent-in-patients-exhibiting-differentiated-thyroid-tumors
#17
Nathalie Lobo de Figueiredo-Feitosa, Gustavo Martelli Palomino, Daiani Cristina Cilião Alves, Celso Teixeira Mendes Junior, Eduardo Antonio Donadi, Léa Maria Zanini Maciel
BACKGROUND: HLA-G is a non-classical class I histocompatibility molecule implicated on the immune escape mechanism of tumor cells. We evaluated the genetic diversity of HLA-G 3' untranslated region (3'UTR) and associated polymorphic sites with clinical presentation and with the magnitude of HLA-G thyroid expression. PATIENTS AND METHODS: Polymorphic sites at 3'UTR (14bpINS/DEL, +3003C/T, +3010C/G, +3027A/C, +3035C/T, +3142C/G, +3187A/G, +3196C/G) were characterized by sequencing analyses in blood samples of 72 patients exhibiting papillary thyroid carcinoma (PTC), 22 follicular thyroid carcinomas (FTC), 19 follicular adenomas (FA), 21 colloid goiters and 156 healthy controls...
December 2, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27914159/-molecular-mechanisms-for-adhesion-and-colonization-of-human-gastric-mucosa-by-helicobacter-pylori-and-its-clinical-implications
#18
REVIEW
Elisabete Coelho, Ana Magalhães, Mário Dinis-Ribeiro, Celso A Reis
INTRODUCTION: Helicobacter pylori infection is very prevalent worldwide and is associated with the progression of the gastric carcinogenesis cascade, being one of the main risk factors for the development of gastric carcinoma. Several factors are determinant for the infection and for the development of gastric disease, including environmental factors, host genetic factors and virulence factors of the bacteria. MATERIAL AND METHODS: In this review, we present an overview of the current knowledge on the determinants of the infection and on the recently described molecular mechanisms of Helicobacter pylori adhesion to the gastric mucosa, as well as its possible future therapeutic application...
August 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/27914109/bcor-upregulation-in-a-poorly-differentiated-synovial-sarcoma-with-ss18l1-ssx1-fusion-a-pathologic-and-molecular-pitfall
#19
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Samuel Kenan, Samuel Singer, William D Tap, David Swanson, Brendan C Dickson, Cristina R Antonescu
The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH which were misinterpreted as a URCS with BCOR gene rearrangements...
December 3, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27914105/genetic-variants-in-the-integrin-signaling-pathway-genes-predict-cutaneous-melanoma-survival
#20
Hongyu Li, Yanru Wang, Hongliang Liu, Qiong Shi, Yinghui Xu, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
To identify genetic variants involved in prognosis of cutaneous melanoma (CM), we investigated associations of single nucleotide polymorphisms (SNPs) of genes in the integrin signaling pathway with CM survival by re-analyzing a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center (MDACC), and then validated significant SNPs in another GWAS from Harvard University. In the MDACC study, 1,148 SNPs were significantly associated with CM-specific survival (CMSS) (P ≤ 0...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
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