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carrier screening

Matthew Swan, Nancy Doan, Robert A Ortega, Matthew Barrett, William Nichols, Laurie Ozelius, Jeannie Soto-Valencia, Sarah Boschung, Andres Deik, Harini Sarva, Jose Cabassa, Brooke Johannes, Deborah Raymond, Karen Marder, Nir Giladi, Joan Miravite, William Severt, Rivka Sachdev, Vicki Shanker, Susan Bressman, Rachel Saunders-Pullman
Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms. Subjects were screened for common GBA1 mutations. GBA-PD (n=31) and non-carrier (IPD; n=55) scores were compared on the Unified Parkinson Disease Rating Scale (UPDRS), Montreal Cognitive Assessment (MoCA), Beck Depression Inventory (BDI), and the State-Trait Anxiety Index (STAI)...
November 15, 2016: Journal of the Neurological Sciences
Laxmana Naik, Rajan Sharma, Bimlesh Mann, Kiran Lata, Y S Rajput, B Surendra Nath
A rapid, semi-quantitative lateral flow assay (LFA) was developed to screen the oxytetracycline (OTC) antibiotics residues in milk samples. In this study a competitive immuno-assay format was established. Colloidal gold nano-particles (GNP) were prepared and used as labelling material in LFA. Polyclonal antibodies were generated against OTC molecule (anti-OTC), purified and the quality was assessed by enzyme linked immuno sorbet assay. For the first time membrane components required for LFA in milk system was optimized...
March 15, 2017: Food Chemistry
Robin Z Hayeems, Charlotte Moore Hepburn, Pranesh Chakraborty, Isaac Odame, Joe Clarke, Fiona A Miller, Adalsteinn D Brown
No abstract text is available yet for this article.
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Thomas McCaffrey, Michela Guglieri, Alexander P Murphy, Katherine Md Bushby, Anna Johnson, John P Bourke
Introduction The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial. Methods Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age 39 ± 15.7 years) 'carriers' of Duchenne or Becker muscular dystrophy (DBMD). Correlations between cardiomyopathy (CM) and mutation, CK levels, age, and muscle symptoms were investigated. Results Depending on definition, CM prevalence was 3-33%. Ejection fraction (Simpson) was < 55% in 9 (13%) and < 40% in 2 (2...
October 19, 2016: Muscle & Nerve
Pooja Gopal, Michelle Yee, Jickky Sarathy, Jian Liang Low, Jansy P Sarathy, Firat Kaya, Véronique Dartois, Martin Gengenbacher, Thomas Dick
Pyrazinamide (PZA) is a critical component of first- and second-line treatments of tuberculosis (TB), yet its mechanism of action largely remains an enigma. We carried out a genetic screen to isolate Mycobacterium bovis BCG mutants resistant to pyrazinoic acid (POA), the bioactive derivative of PZA, followed by whole genome sequencing of 26 POA resistant strains. Rather than finding mutations in the proposed candidate targets fatty acid synthase I and ribosomal protein S1, we found resistance conferring mutations in two pathways: missense mutations in aspartate decarboxylase panD, involved in the synthesis of the essential acyl carrier coenzyme A (CoA), and frameshift mutations in the vitro nonessential polyketide synthase genes mas and ppsA-E, involved in the synthesis of the virulence factor phthiocerol dimycocerosate (PDIM)...
September 9, 2016: ACS Infectious Diseases
Joel B Krier, Sarah S Kalia, Robert C Green
The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management...
September 2016: Dialogues in Clinical Neuroscience
Liang Li, Wan-Jun Zhou, Ping Fang, Ze-Yan Zhong, Jian-Sheng Xie, Ti-Zhen Yan, Jian Zeng, Xu-Hui Tan, Xiang-Min Xu
BACKGROUND: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA. METHODS: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe amplification (MLPA) assay. To evaluate reproducibility, 30 samples were analyzed three times using the three assays...
October 18, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
Maris S Arcilla, Jarne M van Hattem, Manon R Haverkate, Martin C J Bootsma, Perry J J van Genderen, Abraham Goorhuis, Martin P Grobusch, Astrid M Oude Lashof, Nicky Molhoek, Constance Schultsz, Ellen E Stobberingh, Henri A Verbrugh, Menno D de Jong, Damian C Melles, John Penders
BACKGROUND: International travel contributes to the dissemination of antimicrobial resistance. We investigated the acquisition of extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) during international travel, with a focus on predictive factors for acquisition, duration of colonisation, and probability of onward transmission. METHODS: Within the prospective, multicentre COMBAT study, 2001 Dutch travellers and 215 non-travelling household members were enrolled...
October 14, 2016: Lancet Infectious Diseases
Roman Gulati, Heather H Cheng, Paul H Lange, Peter S Nelson, Ruth Etzioni
BACKGROUND: Guidelines for prostate-specific antigen (PSA) screening in subgroups with increased risk of prostate cancer (PCa) diagnosis due to race or genotype are underdeveloped. Our goal was to investigate types of increased PCa risk and implications for targeted screening. METHODS: Computer simulation of subgroups with average and hypothetical increased risk(s) of onset of latent disease, progression, and/or cancer-specific death. For each subgroup, we predicted lifetime probabilities of overdiagnosis and life saved under more and less intensive PSA screening strategies...
October 14, 2016: Cancer Epidemiology, Biomarkers & Prevention
Elfriede Bollschweiler, Arnulf H Hölscher, Till Herbold, Ralf Metzger, Hakan Alakus, Henner Schmidt, Uta Drebber, Ute Warnecke-Eberz
OBJECTIVE: The aim of this study was to evaluate the predictive value of a single or combination of biomarker(s) for histopathologic non-response to neoadjuvant chemoradiation in esophageal cancer. SUMMARY OF BACKGROUND DATA: Patients without response to neoadjuvant chemoradiation for esophageal cancer have no prognostic benefits, but experience time delays and risk side effects. METHODS: Inclusion criteria for this prospective diagnostic study were patients with cT3,Nx,M0, esophageal squamous cell or adenocarcinoma and planned neoadjuvant chemoradiation (5- fluorouracil, cisplatin, 40Gy) followed by 2-field transthoracic esophagectomy...
November 2016: Annals of Surgery
Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan Klugman, Nicole Schreiber-Agus
PURPOSE: The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers associated with implementing this screening in a clinical setting. METHODS: Interested AJ individuals were stratified into high-risk (HR) and low-risk (LR) groups based on self-reported cancer histories. Those at HR were offered traditional genetic counseling/testing; those at LR were offered group genetic counseling and subsidized AJ BRCA founder mutation testing...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
Cigdem Donmez, Ece Konac, Batuhan T Aydogan, Cenk Y Bilen
PURPOSE: To study whether -160 C > A (rs16260) and -347 G > GA (rs5030625) single nucleotide polymorphisms of the regulatory region (rSNPs) of CDH1 gene modulate the risk of nephrolithiasis. METHODS: Genomic DNA of 101 patients with calcium oxalate nephrolithiasis and 114 healthy controls were screened for both polymorphisms, using polymerase chain reaction-restriction fragments length polymorphism method (PCR-RLFP). Haplotype frequencies were also analyzed...
2016: SpringerPlus
Vit Weinberger, Marketa Bednarikova, David Cibula, Michal Zikan
Introduction Serous tubal intraepithelial carcinoma (STIC) is most likely precursor lesion of the most part of high-grade serous pelvis carcinomas, carcinosarcoma and undifferentiated carcinoma with incidence of 0.6% to 7% in BRCA carriers or women with strong family history of breast or ovarian carcinoma. STIC is a pathomorphologically and immunohistochemically detectable lesion which biological significance and clinical relevance is unknown. Areas covered We investigate methods of STIC diagnostics and we present an overview of recent studies and available knowledge on surgical management, adjuvant chemotherapy and subsequent follow-up procedure in women with an isolated STIC...
October 12, 2016: Expert Review of Anticancer Therapy
Lukmaan A Bawazer, Ciara S McNally, Christopher J Empson, William J Marchant, Tim P Comyn, Xize Niu, Soongwon Cho, Michael J McPherson, Bernard P Binks, Andrew deMello, Fiona C Meldrum
Although droplet-based systems are used in a wide range of technologies, opportunities for systematically customizing their interface chemistries remain relatively unexplored. This article describes a new microfluidic strategy for rapidly tailoring emulsion droplet compositions and properties. The approach uses a simple platform for screening arrays of droplet-based microfluidic devices and couples this with combinatorial selection of the droplet compositions. Through the application of genetic algorithms over multiple screening rounds, droplets with target properties can be rapidly generated...
October 2016: Science Advances
Johanna Stranzinger, Jutta Kindel, Melanie Henning, Dana Wendeler, Albert Nienhaus
Background: Staff in children's hospitals may run an increased risk of cytomegalovirus (CMV) contact infection leading to a congenital CMV fetopathy during pregnancy. The main risk factor is close contact with inapparent carriers of CMV among infants (<3 years). We therefore examined CMV seroprevalence (SP) and possible risk factors for CMV infection among staff at a children's hospital. Method: In 2014, staff at a metropolitan children's hospital were offered a CMV antibody test in the context of occupational health screening...
2016: GMS Hygiene and Infection Control
Tamara Shiner, Anat Mirelman, Mali Gana Weisz, Anat Bar-Shira, Elissa Ash, Ron Cialic, Naomi Nevler, Tanya Gurevich, Noa Bregman, Avi Orr-Urtreger, Nir Giladi
Importance: Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB). These mutations are common among Ashkenazi Jews (AJ) and appear to have an effect on the natural history of the disease. Objectives: To evaluate the clinical and genetic characteristics of an AJ cohort of patients diagnosed with DLB, assess the association of phenotype of DLB with GBA mutations, and explore the effects of these mutations on the clinical course of the disease...
October 10, 2016: JAMA Neurology
Jun-Haeng Cho, A-Ru Kim, Sang-Heon Kim, Su-Jae Lee, Hoeil Chung, Moon-Young Yoon
: CD133 is known as biomarker for glioblastoma (GBM) and also serves as a marker for cancer stem cells (CSCs), which carry out tumorigenesis and resist conventional therapeutics. The presence of CD133-presenting CSC is a one of the factors in maintenance of the tumorigenic potential of GBM. Thus, CD133 is a potential target for accurate diagnosis of GBM, which could improve its poor prognosis for patients when CSCs are present. Herein we designed a small peptide-based imaging agent with stimulus-responsive properties...
October 6, 2016: Acta Biomaterialia
(no author information available yet)
Background Newborn screening (NBS) is used to identify pre-symptomatic babies who carry, or are affected by, genetic or congenital conditions ( UK Newborn Screening Programme Centre 2012 ). In England, parents are required to provide informed consent before their babies are screened.
October 7, 2016: Nursing Children and Young People
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