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carrier test

Judy F C Chow, William S B Yeung, Vivian C Y Lee, Estella Y L Lau, Ernest H Y Ng
OBJECTIVES: To evaluate the applicability of a commonly used next generation sequencing workflow in detecting unbalanced meiotic segregation products for reciprocal translocation and inversion carriers. STUDY DESIGN: All preimplantation genetic testing treatment cycles performed for reciprocal translocation or inversion carriers from 2012 to April 2017 were included. Three hundreds and forty-two archived whole genome amplified DNA, which had previously analyzed by array comparative genomic hybridization (aCGH), were retrospectively analyzed by next generation sequencing (NGS)...
March 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Ivana Glavina Jelaš, Ivan Dević, Dalibor Karlović
BACKGROUND: the objective of this study was to examine the associations between Cloninger temperament and character dimensions with the DAT1 VNTR and COMT Val158Met polymorphisms. SUBJECTS AND METHODS: The study was conducted on 101 subjects, consisting of students of the Police College in Zagreb and staff of the Sestre Milosrdnice University Hospital in Zagreb. The Cloninger Temperament and Character Inventory (TCI) was used to test personality traits. RESULTS: A main effect of the DAT1 VNTR polymorphism was found on the subscale self-directedness - SD2 (F=5...
March 2018: Psychiatria Danubina
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
Yong Li, Peggy Sekula, Matthias Wuttke, Judith Wahrheit, Birgit Hausknecht, Ulla T Schultheiss, Wolfram Gronwald, Pascal Schlosser, Sara Tucci, Arif B Ekici, Ute Spiekerkoetter, Florian Kronenberg, Kai-Uwe Eckardt, Peter J Oefner, Anna Köttgen
Background The kidneys have a central role in the generation, turnover, transport, and excretion of metabolites, and these functions can be altered in CKD. Genetic studies of metabolite concentrations can identify proteins performing these functions. Methods We conducted genome-wide association studies and aggregate rare variant tests of the concentrations of 139 serum metabolites and 41 urine metabolites, as well as their pairwise ratios and fractional excretions in up to 1168 patients with CKD. Results After correction for multiple testing, genome-wide significant associations were detected for 25 serum metabolites, two urine metabolites, and 259 serum and 14 urinary metabolite ratios...
March 15, 2018: Journal of the American Society of Nephrology: JASN
Qing Mao, Robert Chin, Weiwei Xie, Yuqing Deng, Wenwei Zhang, Huixin Xu, Rebecca Yu Zhang, Quan Shi, Erin E Peters, Natali Gulbahce, Zhenyu Li, Fang Chen, Radoje Drmanac, Brock A Peters
BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. METHODS: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform...
March 15, 2018: Clinical Chemistry
Krzysztof Karpowicz, Katarzyna Krych, Małgorzata Karpowicz, Witold Nowak, Piotr Gronek
The map of candidate genes that can potentially affect physical fitness becomes larger every year, and they are associated with such aspects as respiratory and cardiovascular stability; body build and composition - especially muscle mass and strength; carbohydrate and lipid metabolism; response to training; and exercise intolerance.The aim of this study was to analyze the relationship between the CA repeat polymorphism of the P1 promoter of the IGF1 gene and the structure of motor skills in the two groups of Polish young athletes in 2011-2013...
March 15, 2018: Acta Biochimica Polonica
Dragana Mijac, Irena Vukovic-Petrovic, Vera Mijac, Vladimir Perovic, Natasa Milic, Srdjan Djuranovic, Daniela Bojic, Dragan Popovic, Djordje Culafic, Miodrag Krstic, Goran Jankovic, Vera Pravica, Milos Markovic
BACKGROUND: Inflammatory bowel disease (IBD) is a chronic disease of unknown etiology in which genetic factors contribute to development of disease. Single nucleotide polymorphisms (SNPs) in multidrug resistance 1 (MDR1) gene encoding transporter P-glycoprotein have been associated with IBD, but their role in disease susceptibility remains unclear. Therefore, the aim of this study was to investigate the association of three MDR1 polymorphisms, C1236T (rs1128503), G2677T/A (rs2032582) and C3435T (rs1045642), with Serbian IBD patients...
2018: PloS One
Wimonchat Tangamornsuksan, Manupat Lohitnavy
Importance: Dapsone-induced hypersensitivity syndrome (DHS) is a life-threatening adverse drug reaction. Based on available epidemiologic studies, HLA genotypes may play an important role in DHS. Objective: To assess the association between HLA-B*1301 and dapsone-induced cutaneous adverse drug reactions (cADRs). Data Sources: Human studies investigating associations between HLA-B*1301 and dapsone-induced cADRs were systematically searched without language restriction from the inception of each database until September 12, 2017, in PubMed, the Human Genome Epidemiology Network), and the Cochrane Library...
March 14, 2018: JAMA Dermatology
G Vittoria, G Pantaleo, A Blasi, G Spagnuolo, A Iandolo, M Amato
Background: There are a lot of techniques to obturate the root canals, but lateral condensation of gutta-percha is the most used one. An important aspect of thermafil is the error margin tolerated by the manufacturer in the production of plastic carriers. In literature, there is no evidence about discrepancy percentage between different carriers. It is demonstrated that the error margin of gutta-percha is 0.5% and is 0.2% for metal files (ISO standards). Objective: The aim of this study was to evaluate the real dimensions of thermafil plastic carriers observed by the stereo microscope measuring the dimensional discrepancy between them...
2018: Open Dentistry Journal
Natalie Herold, Barbara Wappenschmidt, Birgid Markiefka, Katharina Keupp, Sandra Kröber, Eric Hahnen, Rita Schmutzler, Kerstin Rhiem
Non-small cell neuroendocrine carcinomas (NSCNEC) account for 2% of gynecological cancer cases and are associated with a poor prognosis due to delayed diagnosis and aggressive tumor behavior. BRCA2 -associated ovarian carcinomas predominantly possess a high-grade serous phenotype, which respond to platinum and targeted therapy with PARP inhibitors. Presented here is the case of an adult patient with NSCNEC of the ovaries associated with a deleterious BRCA2 germline mutation. The pathogenic mutation was also confirmed on the somatic level, while the wild-type allele had a high variant fraction, suggesting loss of heterozygosity...
April 2018: Oncology Letters
Kristina Jakob, Hanna Ehrentreich, Sarah K C Holtfrerich, Luise Reimers, Esther K Diekhof
Hormone by genotype interactions have been widely ignored by cognitive neuroscience. Yet, the dependence of cognitive performance on both baseline dopamine (DA) and current 17ß-estradiol (E2) level argues for their combined effect also in the context of reinforcement learning. Here, we assessed how the interaction between the natural rise of E2 in the late follicular phase (FP) and the 40 base-pair variable number tandem repeat polymorphism of the dopamine transporter (DAT1) affects reinforcement learning capacity...
2018: Frontiers in Endocrinology
Guilherme Almeida Rosa da Silva, Heloisa Loureiro de Sá Neves Motta, Erik Friedrich Alex de Souza, Pedro Afonso Nogueira Moises Cardoso, José Henrique Pilotto, Walter Araujo Eyer-Silva, Luiz Cláudio Pereira Ribeiro, Mônica Soares Dos Santos, Marcelo Costa Velho Mendes de Azevedo, Jorge Francisco da Cunha Pinto, Rogerio Neves Motta, Fernando Raphael de Almeida Ferry
OBJECTIVES: The increase in HIV transmissibility in non-ulcerative sexually transmitted infection is already well-established. It is estimated that symptomatic carriers of N. gonorrhoeae and C. trachomatis have a relative risk of 4.8-fold and 3.6-fold, respectively, for the sexual acquisition of HIV. This type of evaluation for asymptomatic urethritis is necessary to reinforce strategies to combat HIV transmission. This study aims to assess the prevalence of patients with asymptomatic urethritis among men diagnosed with HIV-1 and determine the risk factors associated with this infection...
March 8, 2018: Revista do Instituto de Medicina Tropical de São Paulo
Cristiana Bulato, Elena Campello, Sabrina Gavasso, Sara Maggiolo, Daniela Tormene, Paolo Simioni
A 7-years-old child who developed unprovoked deep vein thrombosis (DVT) and pulmonary embolism (PE) was tested for inherited thrombophilia. Protein C (PC) antigen level (87 %) and PC coagulometric and amidolytic activities (12 % and 11 %, respectively) were consistent with a homozygous PC type IIA phenotype.The patient was carrier of two heterozygous missense mutations causing p.Arg32Cys substitution associated with a type I PC defect ("null allele", from the paternal side) and p.Gly433Ser substitution responsible for a type IIA PC defect (from the maternal side)...
February 2018: Hämostaseologie
Roberto Scaffaro, Francesco Lopresti, Manuela D'Arrigo, Andreana Marino, Antonia Nostro
Carvacrol (CAR) is one of the most promising essential oil components with antimicrobial activity. New technologies aimed to incorporate this active molecule into carrier matrix to improve the stability and prolong the biological activity. The goal of this study was to investigate the feasibility of incorporating CAR into electrospun membranes of poly(lactic acid) (PLA) for potential applications as active antimicrobial system. To this end, PLA membranes containing homogeneously dispersed CAR were successfully prepared and a series of systematic tests including morpho-mechanical properties, in vitro release rate, and antimicrobial/antibiofilm activities against Staphylococcus aureus and Candida albicans were carried out...
March 13, 2018: Applied Microbiology and Biotechnology
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Belinda Rahman, Anne Lanceley, Rebecca S Kristeleit, Jonathan A Ledermann, Michelle Lockley, Mary McCormack, Tim Mould, Lucy Side
BACKGROUND: Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2 genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing...
March 13, 2018: Journal of Medical Genetics
Ahmad Shafaati, Tao Lin, Ali Broumandan, Gérard Lachapelle
This paper introduces a novel double-differential vector phase-locked loop (DD-VPLL) for Global Navigation Satellite Systems (GNSS) that leverages carrier phase position solutions as well as base station measurements in the estimation of rover tracking loop parameters. The use of double differencing alleviates the need for estimating receiver clock dynamics and atmospheric delays; therefore, the navigation filter consists of the baseline dynamic states only. It is shown that using vector processing for carrier phase tracking leads to a significant enhancement in the receiver sensitivity compared to using the conventional scalar-based tracking loop (STL) and vector frequency locked loop (VFLL)...
March 13, 2018: Sensors
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
Trinidad Dierssen-Sotos, Camilo Palazuelos-Calderón, José-Juan Jiménez-Moleón, Nuria Aragonés, Jone M Altzibar, Gemma Castaño-Vinyals, Vicente Martín-Sanchez, Inés Gómez-Acebo, Marcela Guevara, Adonina Tardón, Beatriz Pérez-Gómez, Pilar Amiano, Victor Moreno, Antonio J Molina, Jéssica Alonso-Molero, Conchi Moreno-Iribas, Manolis Kogevinas, Marina Pollán, Javier Llorca
BACKGROUND: Reproductive factors are well known risk factors for breast cancer; however, little is known about how genetic variants in hormonal pathways interact with that relationship. METHODS: One thousand one hundred thirty nine cases of breast cancer in women and 1322 frequency-matched controls were compared. Genetic variants in hormonal pathways (identified in the Kyoto Encyclopedia of Genes and Genomes) were screened according to their relationship with breast cancer using the Cochran-Armitage statistic...
March 12, 2018: BMC Cancer
Zebin Zhu, Guangyao Xu, Kai Ni, Qian Zhou, Guanhao Wu
We present an absolute distance measurement system using a phase-stable dual-comb system with 56.09 MHz repetition rate and 2 kHz repetition rate difference. A relative phase stability of 0.1 rad in 0.5 ms between two combs is achieved using a mutual locking scheme. The dual-comb ranging system combines the time-of-flight (TOF) method, synthetic-wavelength interferometry (SWI), and carrier wave interferometry (CWI). Each method provides a particular ambiguity range and resolution, and they can be applied simultaneously and linked to enhance the precision and measurement rate of the ranging system...
March 5, 2018: Optics Express
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