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https://www.readbyqxmd.com/read/29209991/current-emerging-and-future-applications-of-digital-pcr-in-non-invasive-prenatal-diagnosis
#1
Juliette Nectoux
Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29166555/maximizing-catalysis-of-nanoparticles-via-their-monolayer-assembly-on-nitrogen-doped-graphene
#2
Chao Yu, Xuefeng Guo, Mengqi Shen, Bo Shen, Michelle Muzzio, Zhouyang Yin, Qing Li, Zheng Xi, Junrui Li, Christopher Takakazu Seto, Shouheng Sun
We report a facile interface assembly method to assemble a monolayer array of nitrogen-doped graphene (NG) and nanoparticles (NPs) and then to transfer the dual monolayers onto a solid substrate. Using 3 nm NiPd NPs as an example, we demonstrate that NiPd-NG-Si can function as a catalyst probe and show maximum NiPd catalysis for the hydrolysis of ammonia borane (H3NBH3, AB) with its TOF = 4896.8 h-1 and Ea = 18.8 kJ/mol. The NiPd-NG-Si is also highly active for catalyzing the synthesis of quinazolines in water, only 0...
November 22, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/29120946/early-onset-neonatal-pneumococcal-sepsis-a-fatal-case-report-and-brief-literature-review
#3
Daniel Jrovsky, Ivan Cese Marchetti, Mariana Alves da Silva Mori, Ricardo Magalhães de Souza, Flávia Jacqueline Almeida, Marco Aurélio Palazzi Sáfadi, Eitan Naaman Berezin
Sepsis caused by Streptococcus pneumoniae is rare in neonates, although associated with high morbidity and mortality. We report a fatal case of invasive pneumococcal disease (NIPD) in a term neonate whose mother was healthy and did not receive any pneumococcal vaccine. Investigation of the infection source yielded negative results. Acquisition of infection through the birth canal was considered unlikely.
November 8, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29119659/gox-zif-8-nipd-nanoflower-an-artificial-enzyme-system-for-tandem-catalysis
#4
Qingqing Wang, Xueping Zhang, Liang Huang, Zhiquan Zhang, Shaojun Dong
This work reports a facile approach to fabricate an artificial enzyme system for tandem catalysis. NiPd hollow nanoparticles and glucose oxidase (GOx) were simultaneously immobilized on ZIF-8 via a co-precipitation method. The as-prepared GOx@ZIF-8(NiPd) nanoflower not only exhibited the peroxidase-like activity of NiPd hollow nanoparticles but also maintained the enzymatic activity of GOx. A colorimetric sensor for rapid detection of glucose was fabricated through the GOx@ZIF-8(NiPd) based multi-enzyme system and the cascade reaction for the visual detection of glucose was successfully combined into one step...
November 9, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/29037559/noninvasive-prenatal-diagnosis-for-x-linked-disease-by-maternal-plasma-sequencing-in-a-family-of-hemophilia-b
#5
Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
OBJECTIVE: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. CASE REPORT: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and revealed a causative F9 gene mutation (c.190T>C, p...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28867594/serotype-and-mlst-based-inference-of-population-structure-of-clinical-streptococcus-pneumoniae-from-invasive-and-noninvasive-pneumococcal-disease
#6
Haijian Zhou, Jiayin Guo, Tian Qin, Hongyu Ren, Yang Xu, Chuanqing Wang, Xuebin Xu
Streptococcus pneumoniae is an important human pathogen causing various diseases. In this study, S. pneumoniae from invasive (IPD) and noninvasive pneumococcal disease (NIPD) were studied by serotype and multilocus sequence typing (MLST) for population structure characteristics. A total of 169 clinical S. pneumoniae, containing 63 IPD and 106 NIPD strains, were analyzed. 19F, 19A, 6A, 6B, 1, 14 and 23F were the dominant serotypes in both IPD and NIPD strains. By MLST, 169 strains were divided into 85 sequence types (STs) with an index of discrimination (IOD) value of 0...
September 1, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28844486/sensitive-monogenic-noninvasive-prenatal-diagnosis-by-targeted-haplotyping
#7
Carlo Vermeulen, Geert Geeven, Elzo de Wit, Marjon J A M Verstegen, Rumo P M Jansen, Melissa van Kranenburg, Ewart de Bruijn, Sara L Pulit, Evelien Kruisselbrink, Zahra Shahsavari, Davood Omrani, Fatemeh Zeinali, Hossein Najmabadi, Theodora Katsila, Christina Vrettou, George P Patrinos, Joanne Traeger-Synodinos, Erik Splinter, Jeffrey M Beekman, Sima Kheradmand Kia, Gerard J Te Meerman, Hans Kristian Ploos van Amstel, Wouter de Laat
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28721719/imprinted-nanovelcro-microchips-for-isolation-and-characterization-of-circulating-fetal-trophoblasts-toward-noninvasive-prenatal-diagnostics
#8
Shuang Hou, Jie-Fu Chen, Min Song, Yazhen Zhu, Yu Jen Jan, Szu Hao Chen, Tzu-Hua Weng, Dean-An Ling, Shang-Fu Chen, Tracy Ro, An-Jou Liang, Tom Lee, Helen Jin, Man Li, Lian Liu, Yu-Sheng Hsiao, Peilin Chen, Hsiao-Hua Yu, Ming-Song Tsai, Margareta D Pisarska, Angela Chen, Li-Ching Chen, Hsian-Rong Tseng
Circulating fetal nucleated cells (CFNCs) in maternal blood offer an ideal source of fetal genomic DNA for noninvasive prenatal diagnostics (NIPD). We developed a class of nanoVelcro microchips to effectively enrich a subcategory of CFNCs, i.e., circulating trophoblasts (cTBs) from maternal blood, which can then be isolated with single-cell resolution by a laser capture microdissection (LCM) technique for downstream genetic testing. We first established a nanoimprinting fabrication process to prepare the LCM-compatible nanoVelcro substrates...
August 22, 2017: ACS Nano
https://www.readbyqxmd.com/read/28592266/urgent-needs-in-fostering-neglected-tropical-diseases-ntds-laboratory-capacity-in-who-western-pacific-region-results-from-the-external-quality-assessment-on-ntds-diagnosis-in-2012-2015
#9
Yan Lu, Glenda Gonzales, Shao-Hong Chen, Hao Li, Yu-Chun Cai, Yan-Hong Chu, Lin Ai, Mu-Xin Chen, Hai-Ning Chen, Jia-Xu Chen
BACKGROUND: Neglected tropical diseases (NTDs) are a heterogeneous group of mainly chronic, debilitating and often stigmatizing diseases that largely affects low-income and politically marginalized populations, causing a large burden of public health, social and economies in the NTDs endemic countries. NTDs are caused by infections with a range of pathogen, including bacteria, parasites, protozoa and viruses. The accurate diagnosis of NTDs is important for reducing morbidity, preventing mortality and for monitoring of control programs...
June 8, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28504327/preferences-for-prenatal-diagnosis-of-sickle-cell-disorder-a%C3%A2-discrete-choice-experiment-comparing-potential-service-users%C3%A2-and-health-care-providers
#10
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE: Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD: A questionnaire that includes a discrete choice experiment was used to determine the preferences of service users and providers for prenatal tests that varied across three attributes: accuracy, time of test and risk of miscarriage...
December 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-of-trisomies-13-18-and-21-a-consensus-opinion
#11
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis...
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28472981/infectious-diseases-of-poverty-the-first-five-years
#12
EDITORIAL
Wei Wang, Jin Chen, Hui-Feng Sheng, Na-Na Wang, Pin Yang, Xiao-Nong Zhou, Robert Bergquist
Although the focus in the area of health research may be shifting from infectious to non-communicable diseases, the infectious diseases of poverty remain a major burden of disease of global health concern. A global platform to communicate and share the research on these diseases is needed to facilitate the translation of knowledge into effective approaches and tools for their elimination. Based on the "One health, One world" mission, a new, open-access journal, Infectious Diseases of Poverty (IDP), was launched by BioMed Central in partnership with the National Institute of Parasitic Diseases (NIPD), Chinese Center for Disease Control and Prevention (China CDC) on October 25, 2012...
May 4, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28472614/serotype-changes-and-antimicrobial-nonsusceptibility-rates-of-invasive-and-non-invasive-streptococcus-pneumoniae-isolates-after-implementation-of-10-valent-pneumococcal-nontypeable-haemophilus-influenzae-protein-d-conjugate-vaccine-phid-cv-in-bulgaria
#13
Lena Setchanova, Marianna Murdjeva, Iglika Stancheva, Alexandra Alexandrova, Maria Sredkova, Temenuga Stoeva, Magda Yoneva, Anna Kurchatova, Ivan Mitov
The 10-valent pneumococcal conjugate vaccine (PCV10) has been included in Bulgarian Childhood Immunization Program since 2010. This study aimed to assess serotype distribution and antimicrobial resistance of 198 invasive and non-invasive Streptococcus pneumoniae strains that had been isolated in Bulgaria during 2011-2016 from patients with invasive (IPD) and non-invasive (NIPD) pneumococcal diseases. The most common invasive serotypes were 3 (10.1%), 19F (4.0%), and 7F (3.0%). A significant decrease in the proportion of invasive vaccine types (VTs) from 64...
July 2017: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28440505/detection-of-fetal-epigenetic-biomarkers-through-genome-wide-dna-methylation-study-for-non-invasive-prenatal-diagnosis
#14
Hong-Dan Wang, Lin Liu, Hui-Ru Zhao, Qiao-Fang Hou, Jing-Bin Yan, Wei-Li Shi, Qian-Nan Guo, Li Wang, Shi-Xiu Liao, Bo-Feng Zhu
The discovery of cell-free DNA fetal (cff DNA) in maternal plasma during pregnancy provides a novel perspective for the development of non‑invasive prenatal diagnosis (NIPD). Against the background of maternal DNA, the use of the relatively low concentration of cff DNA is limited in NIPD. Therefore, in order to overcome the complication of the background of maternal DNA and expand the scope of cff DNA application in clinical practice, it is necessary to identify novel universal fetal‑specific DNA markers...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#15
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#16
Luisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda, Maria Cristina Rosatelli
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of semiconductor sequencing to the non-invasive prenatal diagnosis of β-thalassemia in 37 couples at risk for this variant...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28216181/changing-trends-in-serotypes-of-s-pneumoniae-isolates-causing-invasive-and-non-invasive-diseases-in-unvaccinated-population-in-mexico-2000-2014
#17
María Noemí Carnalla-Barajas, Araceli Soto-Noguerón, Miguel Angel Sánchez-Alemán, Fortino Solórzano-Santos, María Elena Velazquez-Meza, Gabriela Echániz-Aviles
OBJECTIVE: Introduction of pneumococcal conjugate vaccines (PCV) targeted against a limited number of serotypes substantially decreased invasive (IPD) and non-invasive pneumococcal diseases (NIPD) but it was accompanied by non-vaccine type replacement disease. After 9 years of introduction of PCV in Mexico, we analyze the evidence of the indirect effects on IPD and NIPD serotype distribution among groups not targeted to receive the vaccine. METHODS: From January 2000 to December 2014, pneumococcal strains isolated from IPD and NIPD cases from patients ≥5 years of age from participant hospitals of the SIREVA II (Sistema Regional de Vacunas) network were serotyped...
May 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28120840/non-invasive-prenatal-diagnosis-of-spinal-muscular-atrophy-by-relative-haplotype-dosage
#18
Michael Parks, Samantha Court, Benjamin Bowns, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene...
April 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28040480/non-invasive-prenatal-diagnosis-nipd-of-cystic-fibrosis-an-optimized-protocol-using-memo-fluorescent-pcr-to-detect-the-p-phe508del-mutation
#19
C Guissart, C Dubucs, C Raynal, A Girardet, F Tran Mau Them, V Debant, C Rouzier, A Boureau-Wirth, E Haquet, J Puechberty, E Bieth, D Dupin Deguine, P Khau Van Kien, M P Brechard, V Pritchard, M Koenig, M Claustres, M C Vincent
BACKGROUND: Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited by the availability of suitable technical platforms and the need to set up patient or disease-specific custom-made approaches. METHODS: To make research applications more readily accessible to the clinic, we offer a simple assay combining two independent methods to determine the presence or absence of paternally inherited foetal allele p...
March 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/27836589/a-novel-non-invasive-detection-method-for-the-fgfr3-gene-mutation-in-maternal-plasma-for-a-fetal-achondroplasia-diagnosis-based-on-signal-amplification-by-hemin-mofs-ptnps
#20
Jun Chen, Chao Yu, Yilin Zhao, Yazhen Niu, Lei Zhang, Yujie Yu, Jing Wu, Junlin He
The small amount of cell-free fetal DNA (cffDNA) can be a useful biomarker for early non-invasive prenatal diagnosis (NIPD) of achondroplasia. In this study, a novel non-invasive electrochemical DNA sensor for ultrasensitive detecting FGFR3 mutation gene, a pathogenic gene of achondroplasia, based on biocatalytic signal materials and the biotin-streptavidin system are presented. Notably encapsulation of hemin in metal-organic frameworks-based materials (hemin-MOFs) and platinum nanoparticles (PtNPs) were used to prepare hemin-MOFs/PtNPs composites via a one-beaker-one-step reduction...
May 15, 2017: Biosensors & Bioelectronics
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