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https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#1
Bárbara Cardoso, Inês Gomes, Petra Loureiro, Conceição Trigo, Fátima Ferreira Pinto
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28209157/stakeholder-perspectives-on-the-implementation-of-genetic-carrier-screening-in-a-changing-landscape
#2
Kim C A Holtkamp, Evelien M Vos, Tessel Rigter, Phillis Lakeman, Lidewij Henneman, Martina C Cornel
BACKGROUND: In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder to many disorders simultaneously, and offering screening universally, regardless of ancestry. This study aims to identify general and population-specific barriers and needs reflected by stakeholders regarding the implementation of carrier screening in a changing landscape...
February 16, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28206971/impact-of-vascular-endothelial-growth-factor-gene-gene-and-gene-smoking-interaction-and-haplotype-combination-on-bladder-cancer-risk-in-chinese-population
#3
Dian Fu, Ping Li, Wen Cheng, Feng Tian, Xiaofeng Xu, Xiaoming Yi, Chaopeng Tang, Yongzhong Wang, Quansheng Hu, Zhengyu Zhang
AIMS: To investigate the association of single nucleotide polymorphisms (SNPs) within vascular endothelial growth factor (VEGF) gene polymorphisms, additional gene- gene and gene- smoking interactions with bladder cancer risk. RESULTS: Bladder cancer risk was significantly higher in carriers of the rs699947- A allele within VEGF gene than those with rs699947- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1.70 (1.16-2.31), and higher in carriers of the rs833052- A allele of within VEGF gene than those with rs833052- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205426/a-study-of-hla-b-15-02-in-9-different-chinese-ethnics-implications-for-carbamazepine-related-sjs-ten
#4
G J Ou, J Wang, X Ji, H Yu, L Jiang, L Li, Q Chen, P C Su, Z Liu
BACKGROUND: HLA-B*15:02 is a known biomarker for carbamazepine (CBZ)-induced Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) in some ethnic populations. The US FDA recommends B*15:02 screening for Asian and other populations with a high prevalence of B*15:02 prior to treatment with CBZ to prevent drug-related SJS/TEN. MATERIALS AND METHODS: A total of 1607 blood samples were collected from volunteer blood donors who were ethnic minorities living in the Yunnan province of southwestern China, including 153 Yi, 193 Naxi, 167 Miao, 156 Lisu, 166 Derung, 211 Bai, 184 Hani, 198 Dai, and 179 Zhuang...
February 15, 2017: HLA
https://www.readbyqxmd.com/read/28205367/multiplex-ligation-dependent-probe-amplification-as-first-mutation-screening-for-large-deletions-and-duplications-in-haemophilia
#5
D Belvini, R Salviato, P Radossi, G Tagariello
INTRODUCTION: Molecular characterization has shown a wide mutational spectrum underlying haemophilia A (HA) and haemophilia B (HB). Different molecular assays have allowed laboratories to perform genetic testing for F8 and F9 mutations. AIM: Recently, multiplex ligation-dependent probe amplification (MLPA), a simple technique for relative quantitation of targeted genomic regions, has been introduced in HA and HB for detection of large deletions and duplications...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28205220/comprehensive-genome-profiling-of-single-sperm-cells-by-multiple-annealing-and-looping-based-amplification-cycles-and-next-generation-sequencing-from-carriers-of-robertsonian-translocation
#6
Yanwei Sha, Yankun Sha, Zhiyong Ji, Lu Ding, Qing Zhang, Honggen Ouyang, Shaobin Lin, Xu Wang, Lin Shao, Chong Shi, Ping Li, Yueqiang Song
Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28198881/mode-evolution-based-coupler-for-high-saturation-power-ge-on-si-photodetectors
#7
Matthew J Byrd, Erman Timurdogan, Zhan Su, Christopher V Poulton, Nicholas M Fahrenkopf, Gerald Leake, Douglas D Coolbaugh, Michael R Watts
We propose a mode-evolution-based coupler for high saturation power germanium-on-silicon photodetectors. This coupler uniformly illuminates the intrinsic germanium region of the detector, decreasing saturation effects, such as carrier screening, observed at high input powers. We demonstrate 70% more photocurrent generation (9.1-15.5 mA) and more than 40 times higher opto-electrical bandwidth (0.7-31 GHz) than conventional butt-coupled detectors under high-power illumination. The high-power and high-speed performance of the device, combined with the compactness of the coupling method, will enable new applications for integrated silicon photonics systems...
February 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28196696/patients-hospitalized-abroad-as-importers-of-multiresistant-bacteria-a-cross-sectional-study
#8
Tamim Khawaja, Juha Kirveskari, Sara Johansson, Juuso Väisänen, Aurora Djupsjöbacka, Annika Nevalainen, Anu Kantele
OBJECTIVES: The pandemic spread of multidrug-resistant (MDR) bacteria poses a threat to healthcare worldwide, with highest prevalence in indigent regions of the (sub)tropics. As hospitalization constitutes a major risk factor for colonization, infection control management in low-prevalence countries urgently needs background data on patients hospitalized abroad. METHODS: We collected data on 1122 patients who, after hospitalization abroad, were treated at the Helsinki University Hospital between 2010 and 2013...
February 11, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#9
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28193118/validation-of-polymerase-chain-reaction-based-assay-to-detect-actual-number-of-cgg-repeats-in-fmr1-gene-in-indian-fragile-x-syndrome-patients
#10
Madhumita Roy Chowdhury, Sandeepa Chauhan, Anjali Dabral, B K Thelma, Neerja Gupta, Madhulika Kabra
Molecular genetic testing for fragile X (FX) is complicated due to the large variation in the size of CGG expansion. The aim of this study was to apply this new technique using AmplideX FMR1 PCR assay, which is considered a better diagnostic tool for detecting expanded alleles in Indian population. The primary objective was to identify the carrier status of females and to correlate the instability of premutation alleles in females with the repeat sizes. 24 children with FX based on rapid PCR and 29 female relatives of these patients were included...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28187202/asymptomatic-leishmaniasis-in-kala-azar-endemic-areas-of-malda-district-west-bengal-india
#11
Pabitra Saha, Swagata Ganguly, Moytrey Chatterjee, Soumendu Bikash Das, Pratip K Kundu, Subhasish K Guha, Tamal K Ghosh, Dilip K Bera, Nandita Basu, Ardhendu K Maji
Asymptomatic leishmaniasis may drive the epidemic and an important challenge to reach the goal of joint Visceral Leishmaniasis (VL) elimination initiative taken by three Asian countries. The role of these asymptomatic carriers in disease transmission, prognosis at individual level and rate of transformation to symptomatic VL/Post Kala-azar Dermal Leishmaniasis (PKDL) needs to be evaluated. Asymptomatic cases were diagnosed by active mass survey in eight tribal villages by detecting antileishmanial antibody using rK39 based rapid diagnostic kits and followed up for three years to observe the pattern of sero-conversion and disease transformation...
February 10, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28185119/biallelic-brca2-mutations-in-two-black-south-african-children-with-fanconi-anaemia
#12
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28182400/an-engineered-survival-selection-assay-for-extracellular-protein-expression-uncovers-hypersecretory-phenotypes-in-escherichia-coli
#13
Aravind Natarajan, Charles H Haitjema, Robert Lee, Jason T Boock, Matthew P DeLisa
The extracellular expression of recombinant proteins using laboratory strains of Escherichia coli is now routinely achieved using naturally secreted substrates, such as YebF or the osmotically inducible protein Y (OsmY), as carrier molecules. However, secretion efficiency through these pathways needs to be improved for most synthetic biology and metabolic engineering applications. To address this challenge, we developed a generalizable survival-based selection strategy that effectively couples extracellular protein secretion to antibiotic resistance and enables facile isolation of rare mutants from very large populations (i...
February 16, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28182307/chronologic-changes-of-serum-hepatitis-b-virus-dna-genotypes-surface-antigen-mutants-and-reverse-transcriptase-mutants-during-25-year-nationwide-immunization-in-taiwan
#14
Hong-Yuan Hsu, Mei-Hwei Chang, Yen-Hsuan Ni, Cheng-Lun Chiang, Jia-Feng Wu, Huey-Ling Chen, Pei-Jer Chen, Ding-Shinn Chen
We investigated breakthrough infection and hepatitis B virus (HBV) genetic changes in immunized subjects after 25-year of a universal infant immunization. Specifically, serum HBV DNA, genotypes, surface antigen mutants and nucleoside analog-resistant (NAr) mutants were assessed in 2853 subjects (<25-years-old) surveyed in 2009, and these data were compared with the data from previous serosurveys. A comparison across different age-stratified groups using the 2009 data revealed a significant increase in the seropositive rate of anti-HBc (5...
February 9, 2017: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/28181440/screened-charge-carrier-transport-in-methylammonium-lead-iodide-perovskite-thin-films
#15
Andrew H Hill, Kori E Smyser, Casey L Kennedy, Eric S Massaro, Erik M Grumstrup
While organometal halide perovskites are promising for a variety of optoelectronic applications, the morphological and compositional defects introduced by solution processing techniques have hindered efforts at understanding their fundamental properties. To provide a detailed picture of the intrinsic carrier transport properties of methylammonium lead iodide without contributions from defects such as grain boundaries, we utilized pump-probe microscopy to measure diffusion in individual crystalline domains of a thin film...
February 9, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28179634/rapid-and-cost-effective-high-throughput-sequencing-for-identification-of-germline-mutations-of-brca1-and-brca2
#16
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/28179027/genome-scaffolding-and-annotation-for-the-pathogen-vector-ixodes-ricinus-by-ultra-long-single-molecule-sequencing
#17
Wibke J Cramaro, Oliver E Hunewald, Lesley Bell-Sakyi, Claude P Muller
BACKGROUND: Global warming and other ecological changes have facilitated the expansion of Ixodes ricinus tick populations. Ixodes ricinus is the most important carrier of vector-borne pathogens in Europe, transmitting viruses, protozoa and bacteria, in particular Borrelia burgdorferi (sensu lato), the causative agent of Lyme borreliosis, the most prevalent vector-borne disease in humans in the Northern hemisphere. To faster control this disease vector, a better understanding of the I...
February 8, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28179020/hepatitis-b-virus-infection-in-undocumented-immigrants-and-refugees-in-southern-italy-demographic-virological-and-clinical-features
#18
Nicola Coppola, Loredana Alessio, Luciano Gualdieri, Mariantonietta Pisaturo, Caterina Sagnelli, Carmine Minichini, Giovanni Di Caprio, Mario Starace, Lorenzo Onorato, Giuseppe Signoriello, Margherita Macera, Italo Francesco Angelillo, Giuseppe Pasquale, Evangelista Sagnelli
BACKGROUND: The data on hepatitis b virus (HBV) infection in immigrants population are scanty. The porpoise of this study was to define the demographic, virological, and clinical characteristics of subjects infected with HBV chronic infection in a cohort of immigrants living in Naples, Italy. METHODS: A screening for HBV infection was offered to 1,331 immigrants, of whom 1,212 (91%) (831 undocumented immigrants and 381 refugees) accepted and were screened for hepatitis B surface antigen (HBsAg) and anti-hepatitis B core antibody (HBc)...
February 9, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28176814/eunag-a-new-ligand-inducible-fluorescent-reporter-to-detect-drug-transporter-activity-in-live-cells
#19
Johannes T-H Yeh, Kwangho Nam, Joshua T-H Yeh, Norbert Perrimon
The absorption, distribution, metabolism and excretion (ADME) of metabolites and toxic organic solutes are orchestrated by the ATP-binding cassette (ABC) transporters and the organic solute carrier family (SLC) proteins. A large number of ABC and SLC transpoters exist; however, only a small number have been well characterized. To facilitate the analysis of these transporters, which is important for drug safety and physiological studies, we developed a sensitive genetically encoded bilirubin (BR)-inducible fluorescence sensor (eUnaG) to detect transporter-coupled influx/efflux of organic compounds...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28176296/brca1-and-brca2-mutations-in-ovarian-cancer-patients-from-china-ethnic-related-mutations-in-brca1-associated-with-an-increased-risk-of-ovarian-cancer
#20
Tingyan Shi, Pan Wang, Caixia Xie, Sheng Yin, Di Shi, Congchong Wei, Wenbin Tang, Rong Jiang, Xi Cheng, Qingyi Wei, Qing Wang, Rongyu Zang
BRCA1/2 are cancer predisposition genes involved in hereditary breast and ovarian cancer (HBOC). Mutation carriers display an increased sensitivity to inhibitors of poly (ADP-ribose) polymerase (PARP). Despite a number of small-size hospital-based studies being previously reported, there is not yet, to our knowledge, precise data of BRCA1/2 mutations among Chinese ovarian cancer patients. We performed a multicenter cohort study including 916 unselected consecutive epithelial ovarian cancer (EOC) patients from eastern China, to screen for BRCA1/2 mutations using the next-generation sequencing approach...
February 8, 2017: International Journal of Cancer. Journal International du Cancer
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