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https://www.readbyqxmd.com/read/27356087/familial-recurrence-of-3mc-syndrome-in-consanguineous-families-a-clinical-and-molecular-diagnostic-approach-with-review-of-the-literature
#1
Olivia K Gardner, Karla Haynes, Daniela Schweitzer, Alexis Johns, William P Magee, Mark M Urata, Pedro A Sanchez-Lara
We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology...
June 29, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27112773/the-role-of-objective-facial-analysis-using-fdna-in-making-diagnoses-following-whole-exome-analysis-report-of-two-patients-with-mutations-in-the-baf-complex-genes
#2
Karen W Gripp, Laura Baker, Aida Telegrafi, Kristin G Monaghan
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis. There is significant clinical overlap of biologically related syndromes, as exemplified by Nicolaides-Baraitser (NCBRS) and Coffin-Siris (CSS) syndrome. Both result from mutations affecting the BAF (mSWI/SNF) complex and belong to the growing category of BAFopathies. In addition to the notable clinical overlap between these BAFopathies, heterogeneity exists for patients clinically diagnosed with one of these conditions...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26948406/in-vivo-lighted-fluorescence-via-fenton-reaction-approach-for-imaging-of-hydrogen-peroxide-in-living-systems
#3
Changhui Liu, Weiju Chen, Zhihe Qing, Jing Zheng, Yue Xiao, Sheng Yang, Lili Wang, Yinhui Li, Ronghua Yang
By virtue of its high sensitivity and rapidity, Fenton reaction has been demonstrated as a powerful tool for in vitro biochemical analysis; however, in vivo applications of Fenton reaction still remain to be exploited. Herein, we report, for the first time, the design, formation and testing of Fenton reaction for in vivo fluorescence imaging of hydrogen peroxide (H2O2). To realize in vivo fluorescence imaging of H2O2 via Fenton reaction, a functional nanosphere, Fc@MSN-FDNA/PTAD, is fabricated from mesoporous silica nanoparticle (MSN), a Fenton reagent of ferrocene (Fc), ROX-labeled DNA (FDNA), and a cationic perylene derivative (PTAD)...
April 5, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/26663098/recognition-of-the-cornelia-de-lange-syndrome-phenotype-with-facial-dysmorphology-novel-analysis
#4
L Basel-Vanagaite, L Wolf, M Orin, L Larizza, C Gervasini, I D Krantz, M A Deardoff
Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various measurements from images to recognize dysmorphic features and evaluate similarities to known facial patterns (gestalts). To evaluate such systems' usefulness for supporting the clinical practice of healthcare professionals, the recognition accuracy of the Cornelia de Lange syndrome (CdLS) phenotype was examined with FDNA's automated facial dysmorphology novel analysis (FDNA) technology...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26050629/highly-specific-fluorescence-detection-of-t4-polynucleotide-kinase-activity-via-photo-induced-electron-transfer
#5
Mangjuan Tao, Zhilu Shi, Rui Cheng, Jing Zhang, Baoxin Li, Yan Jin
Sensitive and reliable study of the activity of polynucleotide kinase (PNK) and its potential inhibitors is of great importance for biochemical interaction related to DNA phosphorylation as well as development of kinase-targeted drug discovery. To achieve facile and reliable detection of PNK activity, we report here a novel fluorescence method for PNK assay based on a combination of exonuclease cleavage reaction and photo-induced electron transfer (PIET) by using T4 PNK as a model target. The fluorescence of 3'-carboxyfluorescein-labeled DNA probe (FDNA) is effectively quenched by deoxyguanosines at the 5' end of its complementary DNA (cDNA) due to an effective PIET between deoxyguanosines and fluorophore...
September 15, 2015: Analytical Biochemistry
https://www.readbyqxmd.com/read/26018296/male-specific-coliphages-for-source-tracking-fecal-contamination-in-surface-waters-and-prevalence-of-shiga-toxigenic-escherichia-coli-in-a-major-produce-production-region-of-the-central-coast-of-california
#6
Subbarao V Ravva, Chester Z Sarreal, Michael B Cooley
To provide data for traditional trace-back studies from fork to farm, it is necessary to determine the environmental sources for Shiga-toxigenic Escherichia coli. We developed SYBR green based reverse-transcriptase PCR methods to determine the prevalence of F+ RNA coliphages (FRNA) as indicators of fecal contamination. Male-specific coliphages, determined using a single-agar overlay method, were prevalent in all surface waters sampled for 8 months. F+ DNA coliphages (FDNA) were predominant compared to FRNA in water samples from majority of sampling locations...
July 2015: Environmental Science. Processes & Impacts
https://www.readbyqxmd.com/read/25127474/development-of-highly-sensitive-electrochemical-genosensor-based-on-multiwalled-carbon-nanotubes-chitosan-bismuth-and-lead-sulfide-nanoparticles-for-the-detection-of-pathogenic-aeromonas
#7
António Maximiano Fernandes, Mandour H Abdalhai, Jian Ji, Bing-Wen Xi, Jun Xie, Jiadi Sun, Rasoamandrary Noeline, Byong H Lee, Xiulan Sun
In this paper, we reported the construction of new high sensitive electrochemical genosensor based on multiwalled carbon nanotubes-chitosan-bismuth complex (MWCNT-Chi-Bi) and lead sulfide nanoparticles for the detection of pathogenic Aeromonas. Lead sulfide nanoparticles capped with 5'-(NH2) oligonucleotides thought amide bond was used as signalizing probe DNA (sz-DNA) and thiol-modified oligonucleotides sequence was used as fixing probe DNA (fDNA). The two probes hybridize with target Aeromonas DNA (tDNA) sequence (fDNA-tDNA-szDNA)...
January 15, 2015: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/24073640/characterization-and-quantification-of-fungal-colonization-of-phakopsora-pachyrhizi-in-soybean-genotypes
#8
R Vittal, C Paul, C B Hill, G L Hartman
Soybean rust, caused by the fungus Phakopsora pachyrhizi, is an economically important disease of soybean with potential to cause severe epidemics resulting in significant yield losses. Host resistance is one of the management tools to control this disease. This study compared soybean genotypes exhibiting immunity, complete and incomplete resistance, and susceptibility to an isolate of P. pachyrhizi based on visual assessment of reaction type, other visual traits such as sporulation, quantitative measurements of the amount of fungal DNA (FDNA) present in leaf tissues, and data on infection and colonization levels...
January 2014: Phytopathology
https://www.readbyqxmd.com/read/23549792/cost-effectiveness-of-fecal-dna-screening-for-colorectal-cancer-a-systematic-review-and-quality-appraisal-of-the-literature
#9
REVIEW
Mairead Skally, Paul Hanly, Linda Sharp
BACKGROUND: Fecal DNA (fDNA) testing is a noninvasive potential alternative to current colorectal cancer screening tests. OBJECTIVE: We conducted a systematic review and quality assessment of studies of cost-effectiveness of fDNA as a colorectal cancer screening tool (compared with no screening and other screening modalities), and identified key variables that impinged on cost-effectiveness. DATA SOURCES: We searched MEDLINE, Embase, and the Centre for Reviews and Dissemination for cost-effectiveness studies of fDNA-based screening, published in English by September 2011...
June 2013: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/23339569/quantitative-analysis-of-fetal-dna-in-maternal-plasma-in-gestational-diabetes-mellitus-iron-deficiency-anemia-and-gestational-hypertension-pregnancies
#10
Mansour Zamanpoor, Rozita Rosli, Mohd Nazri Yazid, Zaheed Husain, Norshariza Nordin, Karuppiah Thilakavathy
OBJECTIVE: To quantify circulating fetal DNA (fDNA) levels in the second and third trimesters of normal healthy pregnant individuals and pregnant women with the following clinical conditions: gestational diabetes mellitus (GDM), iron deficiency anemia and gestational hypertension (GHT). METHODS: The SRY gene located on the Y chromosome was used as a unique fetal marker. The fDNA was extracted from maternal plasma and the SRY gene concentrations were measured by quantitative real-time polymerase chain reaction (PCR) amplification using TaqMan dual labeled probe system...
July 2013: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/23314673/hypoxia-biomarkers-oxidative-stress-and-circulating-microparticles-in-pediatric-patients-with-thalassemia-in-upper-egypt
#11
Khalid I Elsayh, Asmaa M Zahran, Taghrid B El-Abaseri, Amany O Mohamed, Tarek H El-Metwally
This study aimed to investigate the oxidative stress, hypoxia biomarkers, and circulating microparticles (MPs) in β thalassemia major. The study included 56 children with thalassemia and 46 healthy controls. Hypoxia biomarkers, oxidative stress biomarkers, and total plasma fragmented DNA (fDNA) were detected by the standard methods. The MPs were assessed by flow cytometry. Hypoxia and oxidative stress biomarkers, fDNA, and MPs were higher and total antioxidant capacity (TAC) was lower in patients with thalassemia than the controls...
July 2014: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/22717140/a-gold-nanoparticles-modified-aptamer-beacon-for-urinary-adenosine-detection-based-on-structure-switching-fluorescence-turning-on-mechanism
#12
COMPARATIVE STUDY
Jin-Quan Zhang, Yong-Sheng Wang, Jin-Hua Xue, Yan He, Hui-Xian Yang, Jun Liang, Lin-Fei Shi, Xi-Lin Xiao
A novel small molecule probe, aptamer beacon (AB), was introduced for adenosine (Ade) recognition and quantitative analysis. The Ade aptamer was engineered into an aptamer beacon by adding a gold nanoparticle-modified nucleotide sequence which is complementary to aptamer sequence (FDNA) at the 3'-end of FDNA. The fluorescence signal "turning on" was observed when AB was bound to Ade, which is attributed to a significant conformational change in AB from a FDNA/QDNA duplex to a FDNA-Ade complex. The Ade measurement was carried out in 20 mmol L(-1) Tris-HCl buffer solution of pH 7...
November 2012: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/22382073/sensitive-detection-of-endonuclease-activity-and-inhibition-using-gold-nanorods
#13
Jing Deng, Yan Jin, Lin Wang, Guozhen Chen, Chengxiao Zhang
It is important to develop reliable and sensitive methods for assay of nuclease activity. With this goal in mind, we report a new strategy for nuclease assay by taking advantage of efficient fluorescence resonance energy transfer (FRET) between gold nanorods (GNRs) and fluorescein-tagged single-stranded DNA (FDNA). Upon mixing with GNRs, the FRET between positively charged GNRs and negatively charged FDNA caused a decrease in fluorescence of FDNA. The formation of FDNA/cDNA duplex further improved the FRET efficiency, leading to a significant decrease in fluorescence intensity...
April 15, 2012: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/21375672/quantitative-variation-analysis-of-fetal-dna-in-maternal-plasma-samples-collected-before-and-after-amniocentesis
#14
Cecilia Bussani, Mariarosaria Di Tommaso, Riccardo Cioni, Lucia Pasquini, Laura Quitadamo, Gianfranco Scarselli
AIMS: The aim of this study was to evaluate possible procedure-related variations in the levels of cell-free fetal DNA (fDNA) in maternal plasma of women undergoing genetic amniocentesis. MATERIALS AND METHODS: Blood samples were collected at 16-18 weeks' gestation from 33 pregnant women attending the Fetal Medicine Unit for genetic amniocentesis. For each woman, two blood samples were obtained: the first immediately before amniocentesis and the second one 15 min after the procedure...
June 2011: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/20504269/quantitative-denaturing-high-performance-liquid-chromatography-q-dhplc-detection-of-apc-long-dna-in-faeces-from-patients-with-colorectal-cancer
#15
Murugan Kalimutho, Giovanna Del Vecchio Blanco, Paolo Gravina, Micaela Cretella, Liliana Mannucci, Elena Mannisi, Amanda Formosa, Francesco Pallone, Giorgio Federici, Sergio Bernardini
BACKGROUND: Colorectal cancer (CRC) is the second leading cause of cancer-related deaths. However, prevention is possible by early detection. In the present work, we have demonstrated and validated a novel quantitative method based on a DNA integrity assay and mutation in faeces of CRC patients using denaturing high performance liquid chromatography (dHPLC). METHODS: Faecal DNA (fDNA) was isolated from 28 CRC, 96 healthy and 61 patients with adenomas. Adenomatosis polyposis coli (APC)-Long-DNA and its mutations were analysed using dHPLC and the Sanger sequencing method...
September 2010: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/20079176/-correlation-of-free-fetal-dna-with-beta-human-chorionin-gonadotropin-in-circulation-in-pregnant-women-with-high-risk-of-down-s-syndrome
#16
Jin-lai Meng, Xie-tong Wang, Zi-jiang Chen
OBJECTIVE: To investigate significance and correlation of free fetal DNA (fDNA) and beta-human chorionic gonadotropin (beta-hCG) in circulation in pregnant women with high-risk of Down's syndrome (DS). METHODS: Pregnant women with a male fetus at second trimester screening for Down's syndrome were chosen, including 5 women with a trisomy 21 fetus (DS group), 21 women with DS high-risk pregnant women (DS high-risk group) matched with 22 normal pregnant women as control group...
September 2009: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/18193188/qualitative-and-quantitative-trait-loci-conditioning-resistance-to-puccinia-coronata-pathotypes-nqmg-and-lgcg-in-the-oat-avena-sativa-l-cultivars-ogle-and-tam-o-301
#17
E W Jackson, D E Obert, M Menz, G Hu, J M Bonman
Mapping disease resistance loci relies on the type and precision of phenotypic measurements. For crown rust of oat, disease severity is commonly assessed based on visual ratings of infection types (IT) and/or diseased leaf area (DLA) of infected plants in the greenhouse or field. These data can be affected by several variables including; (i) non-uniform disease development in the field; (ii) atypical symptom development in the greenhouse; (iii) the presence of multiple pathogenic races or pathotypes in the field, and (iv) rating bias...
February 2008: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/16507481/male-specific-rna-coliphages-detected-by-plaque-assay-and-rt-pcr-in-tropical-river-waters-and-animal-fecal-matter
#18
Stacey Yong Foong Yee, Ngeow Yun Fong, Gan Teck Fong, Ong Jen Tak, Gan Teck Hui, Yong Su Ming
Male-specific RNA coliphages (FRNA) have been recommended as indicators of fecal contamination and of the virological quality of water. In this study, 16 river water and 183 animal fecal samples were examined for the presence of FRNA coliphages by a plaque assay using Salmonella typhimurium WG49 and WG25 to differentiate between male-specific and somatic phages, a RNase spot test to differentiate between DNA and RNA phages and a reverse transcriptase-polymerase chain reaction (RT-PCR) for the specific identification of FRNA phages...
February 2006: International Journal of Environmental Health Research
https://www.readbyqxmd.com/read/16248646/a-versatile-toolbox-for-variable-dna-functionalization-at-high-density
#19
COMPARATIVE STUDY
Stefan Jäger, Goran Rasched, Hagit Kornreich-Leshem, Marianne Engeser, Oliver Thum, Michael Famulok
To broaden the applicability of chemically modified DNAs in nano- and biotechnology, material science, sensor development, and molecular recognition, strategies are required for introducing a large variety of different modifications into the same nucleic acid sequence at once. Here, we investigate the scope and limits for obtaining functionalized dsDNA by primer extension and PCR, using a broad variety of chemically modified deoxynucleotide triphosphates (dNTPs), DNA polymerases, and templates. All natural nucleobases in each strand were substituted with up to four different base-modified analogues...
November 2, 2005: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/16011045/free-dna-in-urine-a-new-marker-for-bladder-cancer-preliminary-data
#20
M Zancan, R Franceschini, C Mimmo, M Vianello, F Di Tonno, C Mazzariol, G Malossini, M Gion
The aim of the present preliminary study was to investigate the presence of free DNA (FDNA) in urine as a possible marker for the diagnosis of bladder cancer. Naturally voided morning urine specimens were collected from 57 patients with suspected bladder cancer before cystoscopy. A standard urine test was performed; the specimens were then processed in order to obtain a quantitative evaluation of the presence of free DNA in the urine. Twenty-two patients were excluded from the study because they had leukocyturia and/or bacteriuria...
April 2005: International Journal of Biological Markers
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