keyword
MENU ▼
Read by QxMD icon Read
search

carrier test

keyword
https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#1
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
https://www.readbyqxmd.com/read/28231061/role-of-treatment-modifying-mthfr677c-t-and-1298a-c-polymorphisms-in-metformin-treated-puerto-rican-patients-with-type-2-diabetes-mellitus-and-peripheral-neuropathy
#2
Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz, Jennifer Concepción, Jessicca Y Renta, Raúl H Morales-Borges, Jorge R Miranda-Massari, Jorge Duconge
BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens)...
February 23, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28229332/the-role-of-riboflavin-in-decolourisation-of-congo-red-and-bioelectricity-production-using-shewanella-oneidensis-mr1-under-mfc-and-non-mfc-conditions
#3
Ola M Gomaa, Segun Fapetu, Godfrey Kyazze, Tajalli Keshavarz
Dissimilatory metal reducing bacteria can exchange electrons extracellularly and hold great promise for their use in simultaneous wastewater treatment and electricity production. This study investigated the role of riboflavin, an electron carrier, in the decolourisation of Congo red in microbial fuel cells (MFCs) using Shewanella oneidensis MR-1 as a model organism. The contribution of the membrane-bound protein MtrC to the decolourisation process was also investigated. Within the range of riboflavin concentrations tested, 20 µM was found to be the best with >95% of the dye (initial concentration 200 mg/L) decolourised in MFCs within 50 h compared to 90% in the case where no riboflavin was added...
March 2017: World Journal of Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28228732/c-terminus-methionene-specifically-involved-in-binding-corn-odorants-to-odorant-binding-protein4-in-macrocentrus-cingulum
#4
Tofael Ahmed, Tiantao Zhang, Zhenying Wang, Kanglai He, Shuxiong Bai
The soluble carrier proteins, OBPs carry odor components through sensilium lymph to specific receptors within the antennal sensilla to trigger behavioral responses. Herein, McinOBP4 was characterized from the Macrocentrus cingulum, which is the specialist parasitic insect of Ostrinia furnacalis for better understanding of olfactory recognition mechanism of this wasp. The classical odorant binding protein McinOBP4 showed good binding affinity to corn green leaf volatiles. RT-qPCR results showed that the McinOBP4 was primarily expressed in male and female wasp antennae, with transcripts levels differing by sex...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28227250/assessment-of-frequency-specific-auditory-steady-state-response-using-amplitude-modulation-with-2-order-exponential-envelope
#5
Pablo Cevallos-Larrea, Thobias Pereira, Wagner Santos, Silvana M Frota, Antonio F Infantosi, Roberto M Ichinose, Carlos Tierra-Criollo, Pablo Cevallos-Larrea, Thobias Pereira, Wagner Santos, Silvana M Frota, Antonio F Infantosi, Roberto M Ichinose, Carlos Tierra-Criollo, Pablo Cevallos-Larrea, Wagner Santos, Silvana M Frota, Carlos Tierra-Criollo, Antonio F Infantosi, Thobias Pereira, Roberto M Ichinose
This study investigated the performance of Frequency Specific Auditory Steady-State Response (FS-ASSR) detection elicited by the amplitude modulated tone with 2-order exponential envelope (AM(2)), using objective response detection (ORD) techniques of Spectral F-Test (SFT) and Magnitude Squared Coherence (MSC). ASSRs from 24 normal hearing adults were obtained during binaural multi-tone stimulation of amplitude-modulation (AM) and AM(2) at intensities of 60, 45 and 30 dBSPL. The carrier frequencies were 500, 1000, 2000, and 4000 Hz, modulated between 77 and 105 Hz...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226201/genomewide-association-study-of-alcohol-dependence-identifies-risk-loci-altering-ethanol-response-behaviors-in-model-organisms
#6
Amy E Adkins, Laura M Hack, Tim B Bigdeli, Vernell S Williamson, G Omari McMichael, Mohammed Mamdani, Alexis Edwards, Fazil Aliev, Robin F Chan, Poonam Bhandari, Richard C Raabe, Joseph T Alaimo, GinaMari G Blackwell, Arden A Moscati, Ryan S Poland, Benjamin Rood, Diana G Patterson, Dermot Walsh, John B Whitfield, Gu Zhu, Grant W Montgomery, Anjali K Henders, Nicholas G Martin, Andrew C Heath, Pamela A F Madden, Josef Frank, Monika Ridinger, Norbert Wodarz, Michael Soyka, Peter Zill, Marcus Ising, Markus M Nöthen, Falk Kiefer, Marcella Rietschel, Joel Gelernter, Richard Sherva, Ryan Koesterer, Laura Almasy, Hongyu Zhao, Henry R Kranzler, Lindsay A Farrer, Brion S Maher, Carol A Prescott, Danielle M Dick, Silviu A Bacanu, Laura D Mathies, Andrew G Davies, Vladimir I Vladimirov, Mike Grotewiel, M Scott Bowers, Jill C Bettinger, Bradley T Webb, Michael F Miles, Kenneth S Kendler, Brien P Riley
BACKGROUND: Alcohol Dependence (AD) shows evidence for genetic liability, but genes influencing risk remain largely unidentified. METHODS: We conducted a genomewide association study in 706 related AD cases and 1748 unscreened population controls from Ireland. We sought replication in 15,496 samples of European descent. We used model organisms to assess the role of orthologous genes in ethanol response behaviors. We tested one primate-specific gene for expression differences in case/control post-mortem brain tissue...
February 22, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28226178/occurrence-characterization-and-antimicrobial-susceptibility-of-salmonella-enterica-in-slaughtered-pigs-in-sardinia
#7
Federica Fois, Francesca Piras, Mia Torpdahl, Roberta Mazza, Simonetta G Consolati, Carlo Spanu, Christian Scarano, Enrico P L De Santis
The aim of this study was to determine Salmonella occurrence in slaughtered finishing pigs and piglets and in slaughterhouse environment in order to characterize the isolates with phenotypical (antimicrobial testing) and molecular (PFGE, MLVA) methods. Nine slaughterhouses located in Sardinia were visited. Six hundred and eight samples collected from 106 pigs and 108 environmental samples were collected and analyzed. Salmonella was isolated in 65 of 504 (12.9%) samples from finishing pigs, with an occurrence of 15...
February 22, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/28225712/left-ventricular-function-and-exercise-performance-in-idiopathic-dilated-cardiomyopathy-role-of-tissue-doppler-imaging
#8
Elena Zambon, Annamaria Iorio, Concetta Di Nora, Cosimo Carriere, Elena Abate, Marco Merlo, Giulia Barbati, Andrea Di Lenarda, Bruno Pinamonti, Piergiuseppe Agostoni, Gianfranco Sinagra
BACKGROUND: To examine the relationship between left ventricular (LV) function evaluated at echocardiography and exercise performance in idiopathic dilated cardiomyopathy (IDCM) patients. METHODS AND RESULTS: We enrolled 76 consecutive IDCM patients in sinus rhythm, undergoing cardiopulmonary exercise testing and echocardiography [49 ± 13 years old; LV ejection fraction 31 ± 7%, LV end-diastolic volume 96 ± 31 ml/m; peak oxygen consumption (peak VO2/kg) 18 ± 5...
April 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28225426/committee-opinion-no-691-carrier-screening-for-genetic-conditions
#9
(no author information available yet)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28225421/committee-opinion-no-691-summary-carrier-screening-for-genetic-conditions
#10
(no author information available yet)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28225420/committee-opinion-no-690-summary-carrier-screening-in-the-age-of-genomic-medicine
#11
(no author information available yet)
Carrier screening, whether targeted or expanded, allows individuals to consider their range of reproductive options. Ultimately, the goal of genetic screening is to provide individuals with meaningful information that they can use to guide pregnancy planning based on their personal values. Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening. Because all of these are acceptable strategies, each obstetrician-gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28224390/plga-nanoparticles-as-subconjunctival-injection-for-management-of-glaucoma
#12
Hamed A Salama, Mahmoud Ghorab, Azza A Mahmoud, Mayssa Abdel Hady
Nanoparticles fabricated from the biodegradable and biocompatible polymer, polylactic-co-glycolic acid (PLGA), could be a promising system for targeting ocular drug delivery. The objective of this work was to investigate the possibility of encapsulating brinzolamide in PLGA nanoparticles in order to be applied as a subconjunctival injection that could represent a starting point for developing new therapeutic strategies against increase in ocular pressure. The brinzolamide-loaded PLGA nanoparticles were fabricated using emulsion-diffusion-evaporation method with varying concentrations of Tween 80 or poloxamer 188 (Plx) in aqueous and organic phases...
February 21, 2017: AAPS PharmSciTech
https://www.readbyqxmd.com/read/28223860/polymeric-films-as-a-promising-carrier-for-bioadhesive-drug-delivery-development-characterization-and-optimization
#13
Pallavi Bassi, Gurpreet Kaur
Bioadhesive films using tamarind seed polysaccharide were prepared for the treatment of candida vaginitis using nystatin as the model drug. Films were prepared by solvent casting method. A 3(2) factorial design was employed to study the effect of independent variables (polymer and plasticizer concentration) on a range of dependent variables namely mechanical, swelling, interfacial, and bioadhesive properties through response surface methodological approach, using Design Expert® software. Formulation composition that provided the most desired and optimized results was selected using desirability approach...
January 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28223670/-clinical-management-of-hboc-in-our-hospital
#14
Hidetaka Nomura, Nobuhiro Takeshima
The cumulative risks of developing epithelial ovarian cancer in women aged 70-75years with BRCA1 and BRCA2 germline mutations are approximately 39-40% and 11-18%, respectively. Here, we present the management of hereditary breast and ovarian cancer(HBOC)in our hospital. HBOC management commences with the selection of appropriate candidates for genetic testing, based on personal and familial characteristics that determine the individual's probability of being a mutation carrier. Pre-test counseling, which is an essential element of genetic counseling, should include discussion of why the test is being offered, how the test results may affect medical management, and the cancer risks associated with the gene mutation...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28220878/homozygous-carriers-of-the-tcf7l2-rs7903146-t-allele-show-altered-postprandial-response-in-triglycerides-and-triglyceride-rich-lipoproteins
#15
L Engelbrechtsen, T H Hansen, Y Mahendran, P Pyl, E Andersson, A Jonsson, A Gjesing, A Linneberg, T Jørgensen, T Hansen, H Vestergaard
The TCF7L2 rs7903146 T-allele shows the strongest association with type 2 diabetes (T2D) among common gene variants. The aim of this study was to assess circulating levels of metabolites following a meal test in individuals carrying the high risk rs790346 TT genotype (cases) and low-risk CC genotype (controls). Sixty-two men were recruited based on TCF7L2 genotype, 31 were TT carriers and 31 were age- and BMI-matched CC carriers. All participants consumed a test meal after 12 hours of fasting. Metabolites were measured using proton nuclear magnetic resonance (NMR) spectroscopy...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#16
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28218639/genetic-variations-as-modifying-factors-to-dietary-zinc-requirements-a-systematic-review
#17
REVIEW
Kaitlin J Day, Melissa M Adamski, Aimee L Dordevic, Chiara Murgia
Due to reduced cost and accessibility, the use of genetic testing has appealed to health professionals for personalising nutrition advice. However, translation of the evidence linking polymorphisms, dietary requirements, and pathology risk proves to be challenging for nutrition and dietetic practitioners. Zinc status and polymorphisms of genes coding for zinc-transporters have been associated with chronic diseases. The present study aimed to systematically review the literature to assess whether recommendations for zinc intake could be made according to genotype...
February 17, 2017: Nutrients
https://www.readbyqxmd.com/read/28217902/moving-towards-population-based-genetic-risk-prediction-for-ovarian-cancer
#18
Belinda Rahman, Lucy Side, Sahra Gibbon, Susanne F Meisel, Lindsay Fraser, Sue Gessler, Jane Wardle, Anne Lanceley
Ovarian cancer is the fifth most common cancer in UK women, and the leading cause of gynaecological cancer death. Five-year survival rates, of around 40%, have shown little improvement despite recent advances in cancer treatment. Mutations in the cancer susceptibility genes BRCA1 and BRCA2 confer lifetime risks of breast and ovarian cancer of up to 80% and 40% respectively. The traditional approach of using cancer family history to select patients for genetic testing is being challenged; up to 44% of BRCA mutation carriers do not have a significant family history...
February 19, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28216901/technological-evaluation-of-emulsions-containing-the-volatile-oil-from-leaves-of-plectranthus-amboinicus-lour
#19
Pablo Queiroz Lopes, Fabíola Bernardo Carneiro, Ana Letícia Braz de Sousa, Sócrates Golziodo Santos, Elquio Eleamen Oliveira, Luiz Alberto Lira Soares
BACKGROUND: Plectranthus amboinicus Lour is a species which is widespread throughout tropical countries where it is widely used against respiratory tract disorders such as bronchodilator, antitussive, and expectorant conditions. OBJECTIVE: This study aims to characterize the essential oil of P. amboinicus (PaEO) and produce and evaluate emulsions containing PaEO. MATERIALS AND METHODS: The essential oil was characterized by physical-chemical analyses for density, refractive index, 90% ethanol solubility, color, appearance, and identification by gas chromatography coupled to mass spectrometry detection...
January 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28216063/the-nad-precursor-nicotinic-acid-improves-genomic-integrity-in-human-peripheral-blood-mononuclear-cells-after-x-irradiation
#20
Kathrin Weidele, Sascha Beneke, Alexander Bürkle
NAD(+) is an essential cofactor for enzymes catalyzing redox-reactions as well as an electron carrier in energy metabolism. Aside from this, NAD(+) consuming enzymes like poly(ADP-ribose) polymerases and sirtuins are important regulators involved in chromatin-restructuring processes during repair and epigenetics/transcriptional adaption. In order to replenish cellular NAD(+) levels after cleavage, synthesis starts from precursors such as nicotinamide, nicotinamide riboside or nicotinic acid to match the need for this essential molecule...
February 13, 2017: DNA Repair
keyword
keyword
107746
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"