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https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#1
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28931644/ufm1-founder-mutation-in-the-roma-population-causes-recessive-variant-of-h-abc
#2
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L van der Meij, Barbara Plecko, Susan Blaser, Nicole I Wolf, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap
OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy...
September 20, 2017: Neurology
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#3
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28930605/microfluidics-technology-for-drug-delivery-a-review
#4
Elena I Mancera-Andrade, Ali Parsaeimehr, Alejandra Arevalo-Gallegos, Guadalupe Ascencio-Favela, Roberto Parra Saldivar
Microfluidics is undoubtedly an influential technology that is currently revolutionizing the chemical and biological studies by replicating laboratory bench-top technology on a miniature chip-scale device. In the area of drug delivery science, microfluidics offers advantages, such as precise dosage, ideal delivery, target-precise delivery, sustainable and controlled release, multiple dosing, and slight side effects. These advantages bring significant assets to the drug delivery systems. Microfluidic technology has been progressively used for fabrication of drug carriers, direct drug delivery systems, high-throughput screening, and formulation and immobilization of drugs...
January 1, 2018: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/28929395/-asymptomatic-plasmodium-falciparum-and-vivax-infection-in-the-neighborhood-of-blondin-saint-georges-de-l-oyapock-district-french-guiana
#5
E Mosnier, M Douine, L Epelboin, S Pelleau, V Pommier de Santi, Y Dangel, M Demar, R Mutricy, B Guarmit, M Nacher, P Brousse, D Davy, F Djossou, L Musset
Optimized elimination strategies are needed to control transmission of malaria. As part of an elimination campaign, active detection of asymptomatic Plasmodium carriers by highly sensitive methods is deemed necessary. Asymptomatic carriage leads to complex scientific, ethical, and operational issues regarding individual or collective detection and treatment. To address this issue, a crosssectional study was carried out in French Guiana to determine the prevalence of asymptomatic Plasmodium carriage during an inter-epidemic season in the whole population of a neighborhood of Saint-Georges-de-l'Oyapock, along the Brazilian border...
September 19, 2017: Bulletin de la Société de Pathologie Exotique
https://www.readbyqxmd.com/read/28927256/comparison-of-as-pcr-crs-pcr-and-pcr-pira-methods-used-for-screening-cvm-carriers-in-holstein-cattle
#6
Kozet Avanus, Ahmet Altinel
Complex vertebral malformation (CVM) is an inherited and autosomal recessive disorder of Holstein cattle. The aim of this study was comparing sensitivity, specificity, positive and negative predictive values, accuracy and rapidity of three methods; allele specific PCR (AS-PCR), created restriction site PCR (CRS-PCR) and PCR with primer introduced restriction analysis (PCR-PIRA) that were used in identification of CVM carriers in Holstein cattle population. In order to screen G>T mutation in solute carrier family 35 member A3 (SLC35A3) gene DNA sequencing was used as gold standard method...
September 20, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28924431/occult-hepatitis-infection-in-transfusion-medicine-screening-policy-and-assessment-of-current-use-of-anti-hbc-testing
#7
REVIEW
Antonella Esposito, Chiara Sabia, Carmela Iannone, Giovanni F Nicoletti, Linda Sommese, Claudio Napoli
HBV still represents a global risk factor in transfusion medicine. The residual risk of HBV is not limited to pre-seroconversion window period but it extends to donors with occult HBV infection (OBI) characterized by the presence of HBV DNA in liver and by the absence of the virus surface antigen. Each country developed an appropriate blood screening policy according to local HBV prevalence, yields of infectious units per different screening methods and cost-effectiveness. We underline the need of maintaining a high level of attention for OBI carrier identification in all blood banks worldwide where the screening procedures are generally based on a combination of both serological markers and nucleic acid amplification test...
August 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28924289/knowledge-attitude-and-practices-kap-of-the-families-of-b-thalassaemia-children-in-thalassaemia-centers-of-rawalpindi-and-islamabad-pakistan
#8
Aamir Shahzad, Nazia Rafiq, Ikram Ullah, Muhammad Javaid Asad, Muhammad Sheeraz Ahmad, Usman Waheed
The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924212/chst9-rs1436904-genetic-variant-contributes-to-prognosis-of-triple-negative-breast-cancer
#9
Jupeng Yuan, Nasha Zhang, Hui Zhu, Jibing Liu, Huaixin Xing, Fei Ma, Ming Yang
Triple-negative breast cancer (TNBC) refers to one aggressive histological subtype of breast cancer with high heterogeneity and poor prognosis after standard therapy. Lack of clearly established molecular mechanism driving TNBC progression makes personalized therapy more difficult. Thus, identification of genetic variants associated with TNBC prognosis will show clinic significance for individualized treatments. Our study is aimed to evaluate the prognostic value of the genome wide association study (GWAS)-identified CHST9 rs1436904 and AQP4 rs527616 genetic variants in our established early-stage TNBC sample database...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924001/diagnosis-of-endocrine-disease-sdhx-mutations-beyond-pheochromocytomas-and-paragangliomas
#10
Massimo Mannelli, Letizia Canu, Tonino Ercolino, Elena Rapizzi, Serena Martinelli, Gabriele Parenti, Giuseppina De Filpo, Gabriella Nesi
Mutations in one of the five genes encoding the succinate dehydrogenase (SDHx) or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas (PHEO) and paragangliomas (PGL). Recently, other solid growths, such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs) and pituitary adenomas (PAs) have been associated with these syndromes. In the absence of prospective studies assessing their frequency, at present, their occurrence seems too infrequent to suggest systematic screening for SDHx mutation carriers...
September 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28923328/mutation-frequency-of-three-neurodegenerative-lysosomal-storage-diseases-from-screening-to-treatment
#11
Ana Joana Duarte, Diogo Ribeiro, Pedro Oliveira, Olga Amaral
BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence...
April 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28921398/preliminary-analysis-of-numerical-chromosome-abnormalities-in-reciprocal-and-robertsonian-translocation-preimplantation-genetic-diagnosis-cases-with-24-chromosomal-analysis-with-an-acgh-snp-microarray
#12
Yanxin Xie, Yanwen Xu, Jing Wang, Benyu Miao, Yanhong Zeng, Chenhui Ding, Jun Gao, Canquan Zhou
PURPOSE: The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes...
September 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28916332/assessing-the-use-of-assisted-reproductive-technology-in-the-united-states-by-non-united-states-residents
#13
Aaron D Levine, Sheree L Boulet, Roberta M Berry, Denise J Jamieson, Hillary B Alberta-Sherer, Dmitry M Kissin
OBJECTIVE: To study cross-border reproductive care (CBRC) by assessing the frequency and nature of assisted reproductive technology (ART) care that non-U.S. residents receive in the United States. DESIGN: Retrospective study of ART cycles reported to the Centers for Disease Control and Prevention's National ART Surveillance System (NASS) from 2006 to 2013. SETTING: Private and academic ART clinics. PATIENT(S): Patients who participated in ART cycles in the United States from 2006 to 2013...
August 31, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28914427/the-clinical-and-genetic-spectrum-of-maroteaux-lamy-syndrome-mucopolysaccharidosis-vi-in-the-eastern-province-of-saudi-arabia
#14
Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah
Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult...
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28911234/mucopolysaccharidosis-iiib-sanfilippo-syndrome-b-in-a-commercial-emu-dromaius-novaehollandiae-flock
#15
Seiche C Genger, Keijiro Mizukami, Michael P Martin, Jeffrey R Applegate, H John Barnes, Urs Giger
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described. Between 2012 and 2015, ∼5-10 juvenile emus from a few weeks to several months of age developed progressive neurological signs and died while others in the flock remained healthy. Necropsy of two affected siblings revealed multiple sites of haemorrhage, cytoplasmic periodic acid-Schiff and Luxol fast blue positive inclusions in neurons, and aggregates of foamy macrophages in visceral organs...
September 15, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28903982/mapping-loci-that-control-tuber-and-foliar-symptoms-caused-by-pvy-in-autotetraploid-potato-solanum-tuberosum-l
#16
Washington da Silva, Jason Ingram, Christine A Hackett, Joseph J Coombs, David Douches, Glenn Bryan, Walter De Jong, Stewart Gray
Potato tuber necrotic ringspot disease (PTNRD) is a tuber deformity associated with infection by the tuber necrotic strain of Potato virus Y (PVY(NTN)). PTNRD negatively impacts tuber quality and marketability and poses a serious threat to seed and commercial potato production worldwide. PVY(NTN) symptoms differ in the cultivars Waneta and Pike: Waneta expresses severe PTNRD and foliar mosaic with vein and leaf necrosis, whereas Pike does not express PTNRD and mosaic is the only foliar symptom. To map loci that influence tuber and foliar symptoms, 236 F1 progeny of a cross between Waneta and Pike were inoculated with PVY(NTN) isolate NY090029 and genotyped using 12,808 Potato SNPs...
September 13, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28902616/mef2c-loss-of-function-mutation-associated-with-familial-dilated-cardiomyopathy
#17
Fang Yuan, Zhao-Hui Qiu, Xing-Hua Wang, Yu-Min Sun, Jun Wang, Ruo-Gu Li, Hua Liu, Min Zhang, Hong-Yu Shi, Liang Zhao, Wei-Feng Jiang, Xu Liu, Xing-Biao Qiu, Xin-Kai Qu, Yi-Qing Yang
BACKGROUND: The MADS-box transcription factor myocyte enhancer factor 2C (MEF2C) is required for the cardiac development and postnatal adaptation and in mice-targeted disruption of the MEF2C gene results in dilated cardiomyopathy (DCM). However, in humans, the association of MEF2C variation with DCM remains to be investigated. METHODS: The coding regions and splicing boundaries of the MEF2C gene were sequenced in 172 unrelated patients with idiopathic DCM. The available close relatives of the index patient harboring an identified MEF2C mutation and 300 unrelated, ethnically matched healthy individuals used as controls were genotyped for MEF2C...
September 13, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28901477/simultaneous-multi%C3%A2-gene-mutation-screening-using-snpscan-in-patients-from-ethnic-minorities-with-nonsyndromic-hearing%C3%A2-impairment-in-northwest-china
#18
Shi-Hong Duan, Jian-Li Ma, Xiao-Long Yang, Yu-Fen Guo
The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness‑related genes, gap junction protein β2 (GJB2), solute carrier family 26 member 4 (SLC26A4) and mitochondrially encoded 12S RNA (mtDNA12SrRNA), were detected using a SNPscan technique...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28899422/moderating-effects-of-sex-on-the-impact-of-diagnosis-and-amyloid-positivity-on-verbal-memory-and-hippocampal-volume
#19
Jessica Z K Caldwell, Jody-Lynn Berg, Jeffrey L Cummings, Sarah J Banks
BACKGROUND: Alzheimer's disease (AD) impacts men and women differently, but the effect of sex on predementia stages is unclear. The objective of this study was to examine whether sex moderates the impact of florbetapir positron emission tomography (PET) amyloid positivity (A(+)) on verbal learning and memory performance and hippocampal volume (HV) in normal cognition (NC) and early mild cognitive impairment (eMCI). METHODS: Seven hundred forty-two participants with NC and participants with eMCI from the Alzheimer's Disease Neuroimaging Initiative (second cohort [ADNI2] and Grand Opportunity Cohort [ADNI-GO]) were included...
September 12, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28893251/identification-and-immobilization-of-a-novel-cold-adapted-esterase-and-its-potential-for-bioremediation-of-pyrethroid-contaminated-vegetables
#20
Xinjiong Fan, Weiqu Liang, Yanfang Li, He Li, Xiaolong Liu
BACKGROUND: Pyrethroids are potentially harmful to living organisms and ecosystems. Thus, concerns have been raised about pyrethroid residues and their persistence in agricultural products. To date, although several pyrethroid-hydrolyzing enzymes have been cloned, very few reports are available on pyrethroid-hydrolyzing enzymes with cold adaptation, high hydrolytic activity and good reusability, indispensable properties in practical bioremediation of pyrethroid-contaminated vegetables...
September 11, 2017: Microbial Cell Factories
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