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https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#1
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
March 24, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28339488/mutations-in-the-maize-zeta-carotene-desaturase-gene-lead-to-viviparous-kernel
#2
Yan Chen, Jiankun Li, Kaijian Fan, Yicong Du, Zhenjing Ren, Jing Xu, Jun Zheng, Yunjun Liu, Junjie Fu, Dongtao Ren, Guoying Wang
Preharvest sprouting reduces the maize quality and causes a significant yield loss in maize production. vp-wl2 is a Mutator (Mu)-induced viviparous mutant in maize, causing white or pale yellow kernels, dramatically reduced carotenoid and ABA content, and a high level of zeta-carotene accumulation. Here, we reported the cloning of the vp-wl2 gene using a modified digestion-ligation-amplification method (DLA). The results showed that an insertion of Mu9 in the first intron of the zeta-carotene desaturase (ZDS) gene results in the vp-wl2 mutation...
2017: PloS One
https://www.readbyqxmd.com/read/28339484/a-high-throughput-qpcr-system-for-simultaneous-quantitative-detection-of-dairy-lactococcus-lactis-and-leuconostoc-bacteriophages
#3
Musemma K Muhammed, Lukasz Krych, Dennis S Nielsen, Finn K Vogensen
Simultaneous quantitative detection of Lactococcus (Lc.) lactis and Leuconostoc species bacteriophages (phages) has not been reported in dairies using undefined mixed-strain DL-starters, probably due to the lack of applicable methods. We optimized a high-throughput qPCR system that allows simultaneous quantitative detection of Lc. lactis 936 (now SK1virus), P335, c2 (now C2virus) and Leuconostoc phage groups. Component assays are designed to have high efficiencies and nearly the same dynamic detection ranges, i...
2017: PloS One
https://www.readbyqxmd.com/read/28339232/noiseless-quantum-measurement-and-squeezing-of-microwave-fields-utilizing-mechanical-vibrations
#4
C F Ockeloen-Korppi, E Damskägg, J-M Pirkkalainen, T T Heikkilä, F Massel, M A Sillanpää
A process which strongly amplifies both quadrature amplitudes of an oscillatory signal necessarily adds noise. Alternatively, if the information in one quadrature is lost in phase-sensitive amplification, it is possible to completely reconstruct the other quadrature. Here we demonstrate such a nearly perfect phase-sensitive measurement using a cavity optomechanical scheme, characterized by an extremely small noise less than 0.2 quanta. The device also strongly squeezes microwave radiation by 8 dB below vacuum...
March 10, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28339040/detection-assay-for-hpv16-and-hpv18-by-loop%C3%A2-mediated-isothermal-amplification-with-lateral-flow-dipstick-tests
#5
Ratchanida Kumvongpin, Patcharee Jearanaikoon, Chotchana Wilailuckana, Nattaya Sae-Ung, Prinya Prasongdee, Sakda Daduang, Metee Wongsena, Patcharee Boonsiri, Wansika Kiatpathomchai, Sukumarn Sanersak Swangvaree, Alisa Sandee, Jureerut Daduang
Cervical cancer is the third highest cause of death in developing countries and most commonly results from high‑risk human papillomavirus (HR‑HPV) infection. Among HR‑HPV genotypes, HPV16 and HPV18 are the most prevalent in cervical cancers. Therefore, the present study aimed to develop a detection assay for HPV16 and HPV18 infection using loop‑mediated isothermal amplification (LAMP) with lateral flow dipstick (LFD) tests. This assay is a simplified, user‑friendly method for the visual detection of HPV genotypes...
March 23, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28339012/heavy-metal-content-and-molecular-species-identification-in-canned-tuna-insights-into-human-food-safety
#6
Anna Maria Pappalardo, Chiara Copat, Venera Ferrito, Alfina Grasso, Margherita Ferrante
Canned tuna in olive oil and in brine of the most popular brands sold in Italian markets were analyzed to verify the authentication of transformed products, with the aim to unveil commercial frauds due to the substitutions of high value species with species of low commercial value, and to assess the health risk of consumers related to cadmium (Cd), lead (Pb) and mercury (Hg) contents. Species authentication was evaluated with amplification of COI DNA barcode and confirmed the declared species. Among tested metals, Hg had the highest concentrations, followed by Cd and Pb...
March 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28338888/vibration-transmission-of-the-spine-during-walking-is-different-between-the-lumbar-and-thoracic-regions-in-older-adults
#7
Dafne Zuleima Morgado Ramirez, Siobhan Strike, Raymond Lee
Background: fractures occur more commonly in the thoracic than in the lumbar spine. Physical activity complemented with pharmacological interventions has been advocated as a preventive measure for osteoporosis. However, walking has been shown to produce only a small improvement in spinal bone mineral density. The characteristics of vibration transmission during walking at the lumbar and thoracic spines may be different, and this may help explain the relative incidence of fractures in the two spine regions...
March 18, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28338654/tfeb-vegfa-6p21-1-co-amplified-renal-cell-carcinoma-a-distinct-entity-with-potential-implications-for-clinical-management
#8
Sounak Gupta, Sarah H Johnson, George Vasmatzis, Binu Porath, Jeannette G Rustin, Priya Rao, Brian A Costello, Bradley C Leibovich, R Houston Thompson, John C Cheville, William R Sukov
A subset of renal cell carcinomas shows TFEB overexpression secondary to MALAT1-TFEB gene fusion. As alternate mechanisms of TFEB overexpression are likely to have the same effect, we sought to determine the frequency of amplification of TFEB and the adjacent VEGFA gene at 6p21.1. As patients with metastatic renal cell carcinomas are managed with anti-VEGF therapies, we retrospectively assessed therapeutic response in patients with amplified tumors. Amplification status was analyzed for 875 renal cell carcinomas from our institution, a consultative case and 794 cases from The Cancer Genome Atlas...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338653/breast-ductal-carcinoma-in-situ-carry-mutational-driver-events-representative-of-invasive-breast-cancer
#9
Jia-Min B Pang, Peter Savas, Andrew P Fellowes, Gisela Mir Arnau, Tanjina Kader, Ravikiran Vedururu, Chelsee Hewitt, Elena A Takano, David J Byrne, David Yh Choong, Ewan Ka Millar, C Soon Lee, Sandra A O'Toole, Sunil R Lakhani, Margaret C Cummings, G Bruce Mann, Ian G Campbell, Alexander Dobrovic, Sherene Loi, Kylie L Gorringe, Stephen B Fox
The spectrum of genomic alterations in ductal carcinoma in situ (DCIS) is relatively unexplored, but is likely to provide useful insights into its biology, its progression to invasive carcinoma and the risk of recurrence. DCIS (n=20) with a range of phenotypes was assessed by massively parallel sequencing for mutations and copy number alterations and variants validated by Sanger sequencing. PIK3CA mutations were identified in 11/20 (55%), TP53 mutations in 6/20 (30%), and GATA3 mutations in 9/20 (45%). Screening an additional 91 cases for GATA3 mutations identified a final frequency of 27% (30/111), with a high proportion of missense variants (8/30)...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28338502/sellar-atypical-teratoid-rhabdoid-tumor-at-rt-a-clinicopathologically-and-genetically-distinct-variant-of-at-rt
#10
Satoshi Nakata, Sumihito Nobusawa, Takanori Hirose, Shinji Ito, Naoko Inoshita, Shunsuke Ichi, Vishwa J Amatya, Yukio Takeshima, Kazuhiko Sugiyama, Yukihiko Sonoda, Hironori Haga, Junko Hirato, Yoichi Nakazato, Hideaki Yokoo
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare aggressive tumors of the central nervous system that predominantly affect infants. Although adult AT/RT are rare, accumulated cases have revealed adult-specific AT/RT in the sellar region. Twelve previously reported cases of sellar AT/RT exclusively occurred in adult females, suggesting biological differences from conventional infant AT/RT. We herein investigated a series of 6 sellar AT/RT for histopathologic features, the molecular status of the INI1/SMARCB1 gene, and clinical courses...
March 23, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28338377/sodium-potassium-adenosine-triphosphatase-na-k-atpase-as-a-therapeutic-target-for-uremic-cardiomyopathy
#11
Xiaoliang Wang, Jiang Liu, Christopher A Drummond, Joseph Shapiro
Clinically, patients with significant reductions in renal function present with cardiovascular dysfunction typically termed, uremic cardiomyopathy. It is a progressive series of cardiac pathophysiological changes, including left ventricular diastolic dysfunction and hypertrophy (LVH) which sometimes progress to left ventricular dilation (LVD) and systolic dysfunction in the setting of chronic kidney disease (CKD). Uremic cardiomyopathy is almost ubiquitous in patients afflicted with end stage renal disease (ESRD)...
March 24, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#12
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28338090/septin-9_i2-is-downregulated-in-tumors-impairs-cancer-cell-migration-and-alters-subnuclear-actin-filaments
#13
P Verdier-Pinard, D Salaun, H Bouguenina, S Shimada, M Pophillat, S Audebert, E Agavnian, S Coslet, E Charafe-Jauffret, T Tachibana, A Badache
Functions of septin cytoskeletal polymers in tumorigenesis are still poorly defined. Their role in the regulation of cytokinesis and cell migration were proposed to contribute to cancer associated aneuploidy and metastasis. Overexpression of Septin 9 (Sept9) promotes migration of cancer cell lines. SEPT9 mRNA and protein expression is increased in breast tumors compared to normal and peritumoral tissues and amplification of SEPT9 gene was positively correlated with breast tumor progression. However, the existence of multiple isoforms of Sept9 is a confounding factor in the analysis of Sept9 functions...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28338022/alizarin-red-s-for-online-pyrophosphate-detection-identified-by-a-rapid-screening-method
#14
Jens Fischbach, Qiuting Loh, Frank F Bier, Theam Soon Lim, Marcus Frohme, Jörn Glökler
We identified Alizarin Red S and other well known fluorescent dyes useful for the online detection of pyrophosphate in enzymatic assays, including the loop mediated isothermal amplification (LAMP) and polymerase chain reaction (PCR) assays. An iterative screening was used for a selected set of compounds to first secure enzyme compatibility, evaluate inorganic pyrophosphate sensitivity in the presence of manganese as quencher and optimize conditions for an online detection. Of the selected dyes, the inexpensive alizarin red S was found to selectively detect pyrophosphate under LAMP and PCR conditions and is superior with respect to its defined red-shifted spectrum, long shelf life and low toxicity...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28337919/new-insights-towards-efficient-charge-separation-mechanism-for-high-performances-photoelectrochemical-aptasensing-enhanced-charge-carriers-lifetime-via-coupling-ultrathin-mos2-nanoplates-with-nitrogen-doped-graphene-quantum-dots
#15
Ding Jiang, Xiaojiao Du, Lei Zhou, Henan Li, Kun Wang
Deeply understanding the internal mechanism of photoelectrohemical (PEC) process is conducive to fabricate high-performances PEC biosensors. In this work, we proposed a new insight towards efficient charge separation mechanism in high-performances PEC biosensors. Specifically, we disclosed that the lifetimes of photogenerated charge carriers of ultrathin MoS2 nanosheets could be prolonged by approximately millisecond timescales after a proper mole ratio of NGQDs were coupled, leading to the promoted charge separation, and giant photocurrent signal-magnify...
March 24, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28337907/a-single-cell-based-platform-for-copy-number-variation-profiling-through-digital-counting-of-amplified-genomic-dna-fragments
#16
Chunmei Li, Zhilong Yu, Yusi Fu, Yuhong Pang, Yanyi Huang
We develop a novel single-cell-based platform through digital counting of amplified genomic DNA fragments, named multi-fraction amplification (mfA), to detect the copy number variations (CNVs) in a single cell. Amplification is required to acquire genomic information from a single cell, while introducing unavoidable bias. Unlike prevalent methods that directly infers CNV profiles from the pattern of sequencing depth, our mfA platform denatures and separates the DNA molecules from a single cell into multiple fractions of reaction mix before amplification...
March 24, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28337832/retroperitoneal-dedifferentiated-liposarcoma-with-huge-cystic-degeneration-a-case-report
#17
Kazuyoshi Uchihashi, Atsuji Matsuyama, Eisuke Shiba, Yoshizo Kimura, Toshiro Ogata, Kei Yabuki, Hiroshi Harada, Chisachi Kubo, Yojiro Tsuda, Mao Jotatsu, Masanori Hisaoka
Prominent cyst formation is an unusual feature of liposarcoma. We report here a case of dedifferentiated liposarcoma with huge cystic change without preoperative chemo- or radiation therapy. The lesion arose in the retroperitoneum juxtaposed to the right kidney of a 67-year-old woman. She underwent a surgical removal of the retroperitoneal cyst. The cystic tumor contained 1600 mL of old bloody fluid, and its wall was composed of edematous, inflamed or sclerosing fibrous tissue with fatty tissue containing abundant atypical stromal cells, which were immunohistochemically positive for MDM2 and CDK4, and demonstrated MDM2 gene amplification by fluorescence in situ hybridization...
March 23, 2017: Pathology International
https://www.readbyqxmd.com/read/28337793/solvent-regulated-self-assembly-of-achiral-donor-acceptor-complex-in-confined-chiral-nanotubes-chirality-transfer-inversion-and-amplification
#18
Yuangang Li, Pengfei Duan, Minghua Liu
A chiral gelator was designed and found to form chiral nanotwist and nanotube in toluene and DMSO, respectively, which could serve as host chiral matrixes for fabricating functional soft materials. Guest achiral π-conjugated donor and acceptor were doped in the gel and a solvent regulated self-assembly was observed. Although both the DMSO and toluene gels containing three components look similar as the transparent gels, it was clarified microscopically that while achiral dopants self-assembled in the confined nanotubes in DMSO gel, they only dissolve in the liquid phase in toluene gel...
March 24, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28337426/pathogen-identification-in-suspected-cases-of-pyogenic-spondylodiscitis
#19
Ahmad Farajzadeh Sheikh, Azar D Khosravi, Hamed Goodarzi, Roohangiz Nashibi, Alireaza Teimouri, Azim Motamedfar, Reza Ranjbar, Sara Afzalzadeh, Mehrandokht Cyrus, Mohammad Hashemzadeh
Pyogenic spinal infection continues to represent a worldwide problem. In approximately one-third of patients with pyogenic spondylodiscitis, the infectious agent is never identified. Of the cases that lead to organismal identification, bacteria are more commonly isolated from the spine rather than fungi and parasites. This study applied universal prokaryotic 16S rRNA PCR as a rapid diagnostic tool for the detection of bacterial agents in specimens from patients suspected of pyogenic spondylodiscitis. Gram and Ziehl-Neelsen staining were used as a preliminary screening measure for microbiologic evaluation of patient samples...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28337393/development-and-validation-of-est-ssr-markers-for-fokienia-hodginsii-cupressaceae
#20
Mingyan Ding, Kaikai Meng, Qiang Fan, Weizheng Tan, Wenbo Liao, Sufang Chen
PREMISE OF THE STUDY: Fokienia hodginsii (Cupressaceae) is a Tertiary relict evergreen conifer of the monotypic genus Fokienia. Polymorphic microsatellite markers were developed to investigate its genetic diversity and population structure. METHODS AND RESULTS: RNA transcripts of F. hodginsii were sequenced and de novo assembled into 85,818 unigenes, and 1892 simple sequence repeat (SSR) markers were detected from the unigenes. A total of 273 expressed sequence tag-SSR primer pairs were designed and tested, and 129 successfully amplified...
March 2017: Applications in Plant Sciences
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