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https://www.readbyqxmd.com/read/27919364/double-heterozygous-autosomal-dominant-hypercholesterolemia-clinical-characterization-of-an-underreported-disease
#1
Barbara Sjouke, Joep C Defesche, Merel L Hartgers, Albert Wiegman, Jeanine E Roeters van Lennep, John J Kastelein, G Kees Hovingh
INTRODUCTION: Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. OBJECTIVE: To describe the clinical characteristics of "double-heterozygous carriers," with 2 mutations in 2 different ADH causing genes, that is, LDLR and APOB or LDLR and PCSK9. METHODS: Double heterozygotes were identified in the database of the national referral laboratory for DNA diagnostics of inherited dyslipidemias...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27917156/inhibitory-effects-of-macrotetrolides-from-streptomyces-spp-on-zoosporogenesis-and-motility-of-peronosporomycete-zoospores-are-likely-linked-with-enhanced-atpase-activity-in-mitochondria
#2
Md Tofazzal Islam, Hartmut Laatsch, Andreas von Tiedemann
The release of zoospores from sporangia and motility of the released zoospores are critical in the disease cycle of the Peronosporomycetes that cause devastating diseases in plants, fishes, animals and humans. Disruption of any of these asexual life stages eliminates the possibility of pathogenesis. In the course of screening novel bioactive secondary metabolites, we found that extracts of some strains of marine Streptomyces spp. rapidly impaired motility and caused subsequent lysis of zoospores of the grapevine downy mildew pathogen Plasmopara viticola at 10 μg/ml...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27916719/syringe-test-screening-of-microbial-gas-production-activity-cases-denitrification-and-biogas-formation
#3
Kjetill Østgaard, Viktoria Kowarz, Wang Shuai, Ingrid A Henry, Michal Sposob, Hildegunn Hegna Haugen, Rune Bakke
Mass produced plastic syringes may be applied as vessels for cheap, simple and large scale batch culture testing. As illustrated for the cases of denitrification and of biogas formation, metabolic activity was monitored by direct reading of the piston movement due to the gas volume formed. Pressure buildup due to friction was shown to be moderate. A piston pull and slide back routine can be applied before recording gas volume to minimize experimental errors due to friction. Inoculum handling and activity may be conveniently standardized as illustrated by applying biofilm carriers...
December 1, 2016: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/27916589/a-novel-mechanism-for-human-cardiac-ankyrin-b-syndrome-due-to-reciprocal-chromosomal-translocation
#4
A J Huq, M D Pertile, A M Davis, H Landon, P A James, C F Kline, J Vohra, P J Mohler, M B Delatycki
BACKGROUND: Cardiac rhythm abnormalities are a leading cause of morbidity and mortality in developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and ventricular arrhythmias (called the "ankyrin-B syndrome"). ANK2 encodes ankyrin-B, a molecule critical for the membrane targeting of key cardiac ion channels, transporters, and signalling proteins. METHODS AND RESULTS: Here, we describe a family with a reciprocal chromosomal translocation between chromosomes 4q25 and 9q26 that transects the ANK2 gene on chromosome 4 resulting in loss-of-function of ankyrin-B...
November 16, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/27916472/generation-of-neural-cells-using-ipscs-from-sleep-bruxism-patients-with-5-ht2a-polymorphism
#5
Yurie Hoashi, Satoshi Okamoto, Yuka Abe, Takashi Matsumoto, Junichi Tanaka, Yuya Yoshida, Kent Imaizumi, Kenji Mishima, Wado Akamatsu, Hideyuki Okano, Kazuyoshi Baba
PURPOSE: Sleep bruxism (SB) is classified as a sleep-related movement disorder characterized by grinding and clenching of the teeth during sleep, which is responsible for a variety of clinical problems such as abnormal tooth attrition and fracture of teeth or roots. Little is known about the etiology of SB. Our previous study identified a genomic association of the serotonin 2A receptor (5-HT2A) single nucleotide polymorphism (SNP), rs6313 C>T, with SB, where the C allele carrier is associated with a 4...
December 1, 2016: Journal of Prosthodontic Research
https://www.readbyqxmd.com/read/27916277/the-cost-effectiveness-of-hla-b-5801-screening-to-guide-initial-urate-lowering-therapy-for-gout-in-the-united-states
#6
Eric Jutkowitz, Maureen Dubreuil, Na Lu, Karen M Kuntz, Hyon K Choi
OBJECTIVE: Positive HLA-B*5801 carriers are at greater risk of experiencing rare but severe allopurinol hypersensitivity syndrome (AHS) [i.e., Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)]; however, HLA-B*5801 prevalence and AHS risk vary by race/ethnicity. We evaluated the cost-effectiveness of HLA-B*5801 testing according to race/ethnicity in the United States. METHODS: We determined the cost-effectiveness of universal testing for HLA-B*5801 compared to no testing prior to the initiation of allopurinol per US major race/ethnicity groups...
November 1, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/27914560/diagnosis-and-treatment-of-testosterone-deficiency-recommendations-from-the-fourth-international-consultation-for-sexual-medicine-icsm%C3%A2-2015
#7
Mohit Khera, Ganesh Adaikan, Jacques Buvat, Serge Carrier, Amr El-Meliegy, Kostas Hatzimouratidis, Andrew McCullough, Abraham Morgentaler, Luiz Otavio Torres, Andrea Salonia
INTRODUCTION: Testosterone deficiency (TD), also known as hypogonadism, is a condition affecting a substantial proportion of men as they age. The diagnosis and management of TD can be challenging and clinicians should be aware of the current literature on this condition. AIM: To review the available literature concerning the diagnosis and management of TD and to provide clinically relevant recommendations from the Fourth International Consultation for Sexual Medicine (ICSM) meeting...
December 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27914478/germline-mutations-in-brca1-and-brca2-in-epithelial-ovarian-cancer-patients-in-brazil
#8
Simone Maistro, Natalia Teixeira, Giselly Encinas, Maria Lucia Hirata Katayama, Vivian Dionisio Tavares Niewiadonski, Larissa Garcia Cabral, Roberto Marques Ribeiro, Nelson Gaburo Junior, Ana Carolina Ribeiro Chaves de Gouvêa, Dirce Maria Carraro, Ester Cerdeira Sabino, Maria Del Pilar Estevez Diz, Roger Chammas, Geertruida Hendrika de Bock, Maria Aparecida Azevedo Koike Folgueira
BACKGROUND: Approximately 8-15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies focusing on the entire BRCA1/BRCA2 gene sequencing in Brazilian ovarian cancer patients are still lacking. The aim of this study was to evaluate BRCA1/2 mutations, through entire gene sequencing, in a Brazilian population of women with epithelial ovarian cancer. METHODS: In a cross sectional study performed in one reference centre for cancer treatment in São Paulo, Brazil, 100 patients diagnosed with epithelial ovarian cancer unselected for family history of breast and/or ovarian cancer were included...
December 3, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27913859/complex-genetics-architecture-contributes-to-salmonella-resistance-in-acb60-mice
#9
Sean Beatty, Leïla Rached-D'Astous, Danielle Malo
Human infection with Salmonella is of global public health concern. In low- and middle-income countries, Salmonella infection is a major source of disease in terms of both mortality and morbidity, while in high-income nations, the pathogen is an ongoing threat to food security. The outcome of infection with Salmonella enterica serovar Typhimurium (Salmonella Typhimurium) in mouse models is dependent upon a coordinated and complex immune response. A panel of recombinant congenic strains (RCS) derived from the reciprocal double backcross of A/J and C57BL/6J mice has been screened for their susceptibility to Salmonella infection, and the RCS AcB60 was identified to be the most resistant strain to Salmonella infection, more resistant than the parental strain A/J...
December 2, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27913849/targeted-next-generation-sequencing-reveals-mody-in-up-to-6-5-of-antibody-negative-diabetes-cases-listed-in-the-norwegian-childhood-diabetes-registry
#10
Bente B Johansson, Henrik U Irgens, Janne Molnes, Paweł Sztromwasser, Ingvild Aukrust, Petur B Juliusson, Oddmund Søvik, Shawn Levy, Torild Skrivarhaug, Geir Joner, Anders Molven, Stefan Johansson, Pål R Njølstad
AIMS/HYPOTHESIS: MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. METHODS: Using next-generation sequencing, we screened the HNF1A, HNF4A, HNF1B, GCK and INS genes in all 469 children (12.1%) negative for both GAD and IA-2 autoantibodies and 469 antibody-positive matched controls selected from the Norwegian Childhood Diabetes Registry (3882 children)...
December 2, 2016: Diabetologia
https://www.readbyqxmd.com/read/27913699/risk-and-association-of-hla-with-oxcarbazepine-induced-cutaneous-adverse-reactions-in-asians
#11
Chun-Bing Chen, Yi-Hsin Hsiao, Tony Wu, Mo-Song Hsih, Wichittra Tassaneeyakul, Teekayu P Jorns, Chonlaphat Sukasem, Chien-Ning Hsu, Shih-Chi Su, Wan-Chun Chang, Rosaline Chung-Yee Hui, Chia-Yu Chu, Yi-Ju Chen, Ching-Ying Wu, Chao-Kai Hsu, Tsu-Man Chiu, Pei-Lun Sun, Hua-En Lee, Chin-Yi Yang, Pei-Han Kao, Chih-Hsun Yang, Hsin-Chun Ho, Jing-Yi Lin, Ya-Ching Chang, Ming-Jing Chen, Chun-Wei Lu, Chau Yee Ng, Kang-Ling Kuo, Chien-Yio Lin, Ching-Sheng Yang, Ding-Ping Chen, Pi-Yueh Chang, Tsu-Lan Wu, Yu-Jr Lin, Yi-Ching Weng, Tseng-Tong Kuo, Shuen-Iu Hung, Wen-Hung Chung
OBJECTIVE: To investigate the risk and genetic association of oxcarbazepine-induced cutaneous adverse reactions (OXC-cADRs), including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), in Asian populations (Chinese and Thai). METHODS: We prospectively enrolled patients with OXC-cADRs in Taiwan and Thailand from 2006 to 2014, and analyzed the clinical course, latent period, drug dosage, organ involvement, complications, and mortality. We also investigated the carrier rate of HLA-B*15:02 and HLA-A*31:01 of patients with OXC-cADRs and compared to OXC-tolerant controls...
December 2, 2016: Neurology
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#12
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27906198/population-screening-for-brca1-brca2-mutations-lessons-from-qualitative-analysis-of-the-screening-experience
#13
Sari Lieberman, Amnon Lahad, Ariela Tomer, Carmit Cohen, Ephrat Levy-Lahad, Aviad Raz
PURPOSE: Population screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information. METHODS: Interviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906052/antibody-responses-to-de-novo-identified-citrullinated-fibrinogen-peptides-in-rheumatoid-arthritis-and-visualization-of-the-corresponding-b-cells
#14
Vijay Joshua, Loes Schobers, Philip J Titcombe, Lena Israelsson, Johan Rönnelid, Monika Hansson, Anca I Catrina, Ger J M Pruijn, Vivianne Malmström
BACKGROUND: Antibodies against citrullinated proteins (ACPA) are common in patients with rheumatoid arthritis (RA). ACPA can appear before disease onset and target many self-antigens. Citrullinated fibrin/fibrinogen represents a classical ACPA target antigen, and mass spectrometry of RA synovial fluid reveals elevated citrullinated (cit) fibrinogen (Fib) peptides compared to non-RA controls. We investigated the extent to which these less-studied peptides represent autoantibody targets and sought to visualize the corresponding cit-Fib-reactive B cells in RA patients...
December 1, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27899262/reactivation-of-hepatitis-b-virus-in-cancer-patients-treated-with-chemotherapy-for-solid-tumors-is-the-prophylaxis-really-required
#15
Alessandro Federico, Giuseppina Brancaccio, Marcello Dallio, Patrizia Iodice, Alessio Fabozzi, Salvatore Del Prete, Fortunato Ciardiello, Carmela Loguercio, Giovanni Battista Gaeta
BACKGROUND: Reactivation of hepatitis B virus during cancer chemotherapy for non-hematological tumors is not fully clear. AIM: To evaluate the risk of hepatitis B virus reactivation in carriers of hepatitis B virus cancer patients treated with chemotherapy for solid tumors. METHODS: Two hundred sixty-seven patients with solid tumors were consecutively enrolled: 13 (4.8%) were hepatitis B s-antigen positive, of whom 6 were documented inactive carriers and 7 had chronic liver disease...
November 16, 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27899191/genetic-predisposition-to-endocrine-tumors-diagnosis-surveillance-and-challenges-in-care
#16
REVIEW
Elisabeth Joye Petr, Tobias Else
Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integrating shared patient decision-making at every step of surveillance, diagnosis, and treatment...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899143/presymptomatic-diagnosis-of-fabry-s-disease-a-case-report
#17
Rasmus Bo Hasselbalch, Per Lav Madsen, Henning Bundgaard, Juliane Theilade
BACKGROUND: Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms...
November 29, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27896285/rare-variants-in-optic-disc-area-gene-card10-enriched-in-primary-open-angle-glaucoma
#18
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M Siggs, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Robert J Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Kathryn P Burdon, Jamie E Craig
BACKGROUND: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#19
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#20
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
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