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https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#1
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28647663/management-of-residual-tumor-after-limited-subtotal-resection-of-large-vestibular-schwannomas-lessons-learned-and-a-rationale-for-specialized-care
#2
William R Copeland, Matthew L Carlson, Brian A Neff, Colin L W Driscoll, Michael J Link
BACKGROUND: In an era where subtotal resection (STR) is increasingly utilized, we have encountered a growing number of patients referred to our institution with limited resection of large vestibular schwannomas (VS), at times associated with grave complications. OBJECTIVE: We highlight lessons learned in the management of large VS and provide a rationale for specialized care. METHODS: A prospectively maintained database of over 2,000 patients with VS evaluated at our institution between 2000 and 2016 was reviewed...
June 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28643949/the-role-of-surgery-in-delayed-local-treatment-for-inss-4-neuroblastoma
#3
Shuichiro Uehara, Akihiro Yoneda, Takaharu Oue, Kengo Nakahata, Masahiro Zenitani, Takako Miyamura, Yoshiko Hashii, Masahiro Fukuzawa, Hiroomi Okuyama
PURPOSE: The aim of the present study was to compare the efficacy, complications and outcomes of the following two different surgical strategies, in patients receiving delayed local treatment for INSS 4 neuroblastoma (NB): complete resection (CR; period A), and gross total resection (GTR)/subtotal resection (STR) with local irradiation (period B). METHODS: We retrospectively analyzed 17 patients with INSS 4 neuroblastoma (NB) who received delayed local treatment (period A, n=11; period B, n=6)...
June 23, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28643434/improved-yield-of-minimal-proportional-sample-volume-platelet-bacterial-culture
#4
Hany Kamel, Mary Townsend, Marjorie Bravo, Ralph R Vassallo
BACKGROUND: Reports of septic transfusion reactions (STRs) after transfusion of culture-negative platelets (PLTs) justify more effective prevention strategies. Pathogen reduction technologies or performance of additional point-of-issue testing are proposed strategies to enhance safety through Day 5 of storage. STUDY DESIGN AND METHODS: Trima leukoreduced apheresis PLTs (APs) were collected during two study periods (45 and 31 months) using standard procedures, with target settings adjusted during the second period to maintain split rate after increased culture volume...
June 22, 2017: Transfusion
https://www.readbyqxmd.com/read/28639094/new-molecular-and-morphological-data-for-opecoelid-digeneans-in-two-mediterranean-sparid-fishes-with-descriptions-of-macvicaria-gibsoni-n-sp-and-m-crassigula-linton-1910-sensu-stricto
#5
Mohammed Rima, Douniazed Marzoug, Ana Pérez-Del-Olmo, Aneta Kostadinova, Mohamed Bouderbala, Simona Georgieva
Molecular and morphological data were gathered for specimens of species of Macvicaria Gibson & Bray, 1982 and Pseudopycnadena Saad-Fares & Maillard, 1986 (Digenea: Opecoelidae) collected from two sparid fishes, Diplodus vulgaris (Geoffroy Saint-Hilaire) and Sparus aurata L., off the Algerian coast of the Western Mediterranean. Phylogenetic analyses based on ITS1-5.8S-ITS2 and partial 28S rDNA sequences provided evidence for the distinct species status of eight Mediterranean species of Macvicaria. Novel molecular data are provided for four species, M...
June 21, 2017: Systematic Parasitology
https://www.readbyqxmd.com/read/28638951/isoflurane-and-ketamine-xylazine-differentially-affect-intraocular-pressure-associated-scotopic-threshold-responses-in-sprague-dawley-rats
#6
Vivian Choh, Akshay Gurdita, Bingyao Tan, Yunwei Feng, Kostadinka Bizheva, Daphne L McCulloch, Karen M Joos
PURPOSE: Amplitudes of electroretinograms (ERG) are enhanced during acute, moderate elevation of intraocular pressure (IOP) in rats anaesthetised with isoflurane. As anaesthetics alone are known to affect ERG amplitudes, the present study compares the effects of inhalant isoflurane and injected ketamine:xylazine on the scotopic threshold response (STR) in rats with moderate IOP elevation. METHODS: Isoflurane-anaesthetised (n = 9) and ketamine:xylazine-anaesthetised (n = 6) rats underwent acute unilateral IOP elevation using a vascular loop anterior to the equator of the right eye...
June 21, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28631292/validation-of-reduced-reagent-volumes-in-the-implementation-of-the-quantifiler-%C3%A2-trio-quantification-kit
#7
Yoonjung Cho, Hyo Sook Kim, Min-Hee Kim, Moonhee Park, Hansol Kwon, Yang Han Lee, Dong Sub Lee
The Quantifiler(®) Trio Quantification Kit has been developed to quantify the total amount of amplifiable and human male DNA in samples and to estimate the extent of DNA degradation. To minimize the cost of DNA quantification, we evaluated kit performance using a reduced volume of reagents (1/10-volume) using DNA samples of varying types and concentrations. Our results demonstrated concordance between the manufacturer's method and the low-volume method for DNA quantification, DNA degradation index estimation, and human male DNA quantification...
June 20, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28630471/candidatus-mycoplasma-girerdii-replicates-diversifies-and-co-occurs-with-trichomonas-vaginalis-in-the-oral-cavity-of-a-premature-infant
#8
Elizabeth K Costello, Christine L Sun, Erica M Carlisle, Michael J Morowitz, Jillian F Banfield, David A Relman
Genital mycoplasmas, which can be vertically transmitted, have been implicated in preterm birth, neonatal infections, and chronic lung disease of prematurity. Our prior work uncovered 16S rRNA genes belonging to a novel, as-yet-uncultivated mycoplasma (lineage 'Mnola') in the oral cavity of a premature neonate. Here, we characterize the organism's associated community, growth status, metabolic potential, and population diversity. Sequencing of genomic DNA from the infant's saliva yielded 1.44 Gbp of high-quality, non-human read data, from which we recovered three essentially complete (including 'Mnola') and three partial draft genomes (including Trichomonas vaginalis)...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28628901/characterisation-of-artefacts-and-drop-in-events-using-str-validator-and-single-cell-analysis
#9
Oskar Hansson, Peter Gill
There is a need to understand the occurrence of drop-in and their peak height distributions to further improve existing models to interpret complex DNA results. The necessary data is usually very time-consuming to collect. Here we present a practical approach for simultaneous characterisation of reproducible artefacts and drop-in contamination from negative controls. As an alternative to the traditional approach we demonstrate the use of the DEPArray system as a source of single molecules for amplification to infer the peak height distribution of drop-in events...
April 21, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28627427/144-week-efficacy-and-safety-of-a-once-daily-single-tablet-regimen-of-tenofovir-lamivudine-and-efavirenz-among-arv-na%C3%A3-ve-and-arv-experienced-hiv-1-infected-thai-adults
#10
Anchalee Avihingsanon, Wirach Maek-A-Nantawat, Sivaporn Gatechompol, Vorapot Sapsirisavat, Wanida Thiansanguankul, Jiratchaya Sophonphan, Narujakorn Thammajaruk, Sasiwimol Ubolyam, David M Burger, Kiat Ruxrungtham
OBJECTIVES: To assess the efficacy and safety of a new single tablet regimen(STR) of tenofovir disoproxil fumarate(TDF) 300mg, lamivudine(3TC) 300mg and efavirenz(EFV) 600mg in HIV-infected Thais. METHODS: This was a 144 week, prospective study among 51 treatment naïve and 49 experienced patients on separated pill of TDF, 3TC and EFV with HIV RNA<50 copies/ml. CD4, HIV RNA, liver, renal functions and lipid profiles were assessed at baseline, weeks 12, 24, 48 and then every 24 weeks...
June 13, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28625182/bovine-intra-mammary-challenge-with-streptococcus-dysgalactiae-spp-dysgalactiae-to-explore-the-effect-on-the-response-of-complement-activity
#11
Susan Maye, James Flynn, Catherine Stanton, Gerald F Fitzgerald, Philip M Kelly
Recently published work as described by the authors highlighted the extent of Complement activity in bovine milk. Localised mastitis infection occurring in the mammary glands of dairy cows is readily detectable by the levels of somatic cells in milk. Thus, it is opportune to monitor Complement activity in milks in association with the animal's innate immune response to mammary infection. Preliminary screening of milk samples taken randomly showed that milk with a high somatic cell count (SCC) reduced growth of the Complement-sensitive strain E...
June 19, 2017: Journal of Dairy Research
https://www.readbyqxmd.com/read/28623801/dna-analysis-of-root-canal-filled-teeth
#12
Hikaru Izawa, Hirofumi Tsutsumi, Sayaka Maruyama, Toshinobu Komuro
Teeth are markedly useful as samples for DNA analysis; however, intact teeth are not always available. This study examined the possibility of identifying autosomal and Y-chromosome short tandem repeat (STR) types in samples from 34 teeth (15 intact and 19 root canal filled) that had been preserved for 10-33years after dental extraction. The aim was to explore the feasibility of individual identification by DNA analysis of samples obtained from highly decomposed and skeletonized corpses. Only one out of 24 autosomal STR loci was not identified in two of the 15 intact teeth, whereas all 23 loci of the Y chromosome STR were detected...
May 10, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28623604/craniospinal-irradiation-for-treatment-of-metastatic-pediatric-low-grade-glioma
#13
Derek S Tsang, Erin S Murphy, Sharon E Ezell, John T Lucas, Christopher Tinkle, Thomas E Merchant
Patients with disseminated pediatric low-grade glioma (LGG) initially treated with chemotherapy frequently experience disease progression, with 5-year event-free survival (EFS) of <20% and 10-year overall survival (OS) of approximately 70%. This study aimed to describe outcomes of metastatic pediatric LGG treated with craniospinal irradiation (CSI). A retrospective study was performed of all patients with metastatic pediatric LGG treated with CSI at a single institution. EFS was defined as survival without disease progression or secondary high-grade glioma...
June 17, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28622802/rapid-multiplex-dna-amplification-on-an-inexpensive-microdevice-for-human-identification-via-short-tandem-repeat-analysis
#14
Jacquelyn A DuVall, Delphine Le Roux, Brandon L Thompson, Christopher Birch, Daniel A Nelson, Jingyi Li, Daniel L Mills, An-Chi Tsuei, Martin G Ensenberger, Cindy Sprecher, Douglas R Storts, Brian E Root, James P Landers
Forensic DNA analysis requires several steps, including DNA extraction, PCR amplification, and separation of PCR fragments. Intuitively, there are numerous situations where it would be beneficial to speed up the overall DNA analysis process; in this work, we focus on the most time-consuming component in the analysis pipeline, namely the polymerase chain reaction (PCR). Primers were specially designed to target 10 human genomic loci, all yielding amplicons shorter than 350 bases, for ease of downstream integration with on-board microchip electrophoresis...
August 8, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28622394/y-chromosomal-analysis-of-greek-cypriots-reveals-a-primarily-common-pre-ottoman-paternal-ancestry-with-turkish-cypriots
#15
Alexandros Heraclides, Evy Bashiardes, Eva Fernández-Domínguez, Stefania Bertoncini, Marios Chimonas, Vasilis Christofi, Jonathan King, Bruce Budowle, Panayiotis Manoli, Marios A Cariolou
Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages...
2017: PloS One
https://www.readbyqxmd.com/read/28617865/a-human-genotyping-trial-to-estimate-the-post-feeding-time-from-mosquito-blood-meals
#16
Yuuji Hiroshige, Masaaki Hara, Atsushi Nagai, Tomoyuki Hikitsuchi, Mitsuo Umeda, Yumi Kawajiri, Koji Nakayama, Koichi Suzuki, Aya Takada, Akira Ishii, Toshimichi Yamamoto
Mosquitoes occur almost worldwide, and females of some species feed on blood from humans and other animals to support ovum maturation. In warm and hot seasons, such as the summer in Japan, fed mosquitoes are often observed at crime scenes. The current study attempted to estimate the time that elapsed since feeding from the degree of human DNA digestion in mosquito blood meals and also to identify the individual human sources of the DNA using genotyping in two species of mosquito: Culex pipiens pallens and Aedes albopictus...
2017: PloS One
https://www.readbyqxmd.com/read/28613042/allele-frequencies-of-15-str-loci-in-bosnian-and-herzegovinian-population
#17
Amela Pilav, Naris Pojskić, Anesa Ahatović, Mirela Džehverović, Jasmina Čakar, Damir Marjanović
AIM: To determine newest the most accurate allele frequencies for 15 short tandem repeat (STR) loci in the Bosnian and Herzegovinian population, calculate statistical parameters, and compare them with the relevant data for seven neighboring populations. METHODS: Genomic DNA was obtained from buccal swabs of 1000 unrelated individuals from all regions of Bosnia and Herzegovina. Genotyping was performed using PowerPlex® 16 System to obtain allele frequencies for 15 polymorphic STR loci including D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, and FGA...
June 14, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28613038/investigation-of-the-str-loci-noise-distributions-of-powerseq%C3%A2-auto-system
#18
Xiangpei Zeng, Jonathan L King, Bruce Budowle
AIM: To characterize the noise and stutter distribution of 23 short tandem repeats (STRs) included in the PowerSeqTM Auto System. METHODS: Raw FASTQ files were analyzed using STRait Razor v2s to display alleles and coverage. The sequence noise was divided into several categories: noise at allele position, noise at -1 repeat position, and artifact. The average relative percentages of locus coverage for each noise, stutter, and allele were calculated from the samples used for this locus noise analysis...
June 14, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28610366/first-record-of-cephenniitae-in-the-bismarck-archipelago-papua-new-guinea-with-description-of-new-species-of-cephennodes-and-cephennomicrus-of-mussau-and-manus-islands-coleoptera-staphylinidae-scydmaeninae
#19
Paweł Jałoszyński
The supertribe Cephenniitae and the tribe Cephenniini are for the first time recorded from the Bismarck Archipelago, Papua New Guinea. Cephennodes (s. str.) mussauinsularis sp. n. and Cephennomicrus manusianus sp. n. are described, based on specimens collected respectively on Mussau Island (New Ireland Province) and Manus Island (Manus Province).
May 17, 2017: Zootaxa
https://www.readbyqxmd.com/read/28610294/notes-on-the-genus-navicordulia-machado-costa-1995-odonata-anisoptera-corduliidae-s-str-description-of-a-new-species-phylogenetic-affinities-and-aspects-of-biogeography
#20
Günther Fleck
Based on a single male specimen, a remarkable new species of the genus Navicordulia is described from the Massif du Mitaraka in French Guiana (Tumuc-Humac Mountains). Another new species of this genus is also reported from the same locality but is not described. This is the first record of the genus from French Guiana, hitherto being unknown within a radius of more than 1000 km. Apparent rarity or absence of records is probably due to its secretive habits. Navicordulia tumucurakensis sp. nov. presents unique characters not present in other species of the genus including: almost no excavation of the anal angle, proximal sternal pilose ridge of abdominal segment 7 transformed into two large lateral oreillets disconnected from the median carina, additional distal sternal pilose ridge transformed into a medial knob, epiproct not extending beyond the distal half of the cerci, very long cerci surpassing those of described species, cerci lacking ventro-medial carina and tubercle and exhibiting a distal ventral brush of hair-like setae...
May 29, 2017: Zootaxa
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