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https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#1
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098507/development-and-evaluation-of-a-loop-mediated-isothermal-amplification-lamp-assay-for-the-detection-of-haemonchus-contortus-in-goat-fecal-samples
#2
Xin Yang, Mingwei Qi, Zongze Zhang, Chong Gao, Chunqun Wang, Weiqiang Lei, Li Tan, Junlong Zhao, Rui Fang, Min Hu
Haemonchus contortus is one of the most significant strongylid nematodes infecting small ruminants and causes great economic losses to the livestock industry worldwide. Accurate diagnosis of H. contortus is crucial to control the infection. Traditional microscopic examinations are the most common methods for the diagnosis of H. contortus, but they are time-consuming and inaccurate. Molecular methods based on PCR are more accurate, but need expensive machines usually only used in the laboratory. Loop-mediated isothermal amplification (LAMP) is a rapid, simple, specific and sensitive method that has been widely used to detect viruses, bacteria and parasites...
January 18, 2017: Journal of Parasitology
https://www.readbyqxmd.com/read/28098405/shielding-engineered-islets-with-mesenchymal-stem-cells-enhance-survival-under-hypoxia
#3
Bhawna Chandravanshi, Ramesh Ramchandra Bhonde
In the present study we focused on the improvisation of islet survival in hypoxia.The Islet like cell aggregates (ICAs) derived from wharton's jelly mesenchymal stem cells (WJ MSC) were cultured with and without WJ MSC for 48h in hypoxia and normoxia and tested for their direct trophic effect on β cell survival. The WJ MSCs themselves secreted insulin upon glucose challenge and expressed the pancreatic markers at both transcription and translational level (C-peptide, Insulin,Glucagon and Glut 2). Direct contact of MSCs with ICAs facilitated highest viability under hypoxia as evidenced by fluorescein diacetate/propidium iodide and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide(MTT) assay...
January 18, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28098258/unidirectional-invisibility-induced-by-parity-time-symmetric-circuit
#4
Bo Lv, Jiahui Fu, Bian Wu, Rujiang Li, Qingsheng Zeng, Xinhua Yin, Qun Wu, Lei Gao, Wan Chen, Zhefei Wang, Zhiming Liang, Ao Li, Ruyu Ma
Parity-time (PT) symmetric structures present the unidirectional invisibility at the spontaneous PT-symmetry breaking point. In this paper, we propose a PT-symmetric circuit consisting of a resistor and a microwave tunnel diode (TD) which represent the attenuation and amplification, respectively. Based on the scattering matrix method, the circuit can exhibit an ideal unidirectional performance at the spontaneous PT-symmetry breaking point by tuning the transmission lines between the lumped elements. Additionally, the resistance of the reactance component can alter the bandwidth of the unidirectional invisibility flexibly...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097915/the-relationship-between-angiotensin-converting-enzyme-ace-insertion-i-deletion-d-polymorphism-serum-ace-activity-and-bone-mineral-density-bmd-in-older-chinese
#5
Ya-Feng Zhang, Hong Wang, Qiong Cheng, Ling Qin, Nelson Ls Tang, Ping-Chong Leung, Timothy Cy Kwok
OBJECTIVE: In this study, we set out to investigate the relationship between angiotensin-converting enzyme ( ACE) I/D polymorphism, serum ACE activity and bone mineral density (BMD) in older Chinese. METHODS: A standardized, structured, face-to-face interview was performed to collect demographic information. BMD was measured using dual-energy X-ray absorptiometry (DXA). I/D genotypes of ACE were determined by polymerase chain reaction (PCR) amplification. Serum ACE activity was determined photometrically by a commercially available kinetic kit...
January 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#6
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097816/effect-of-temperature-and-colonization-of-legionella-pneumophila-and-vermamoeba-vermiformis-on-bacterial-community-composition-of-copper-drinking-water-biofilms
#7
Helen Y Buse, Pan Ji, Vicente Gomez-Alvarez, Amy Pruden, Marc A Edwards, Nicholas J Ashbolt
It is unclear how the water-based pathogen, Legionella pneumophila (Lp), and associated free-living amoeba (FLA) hosts change or are changed by the microbial composition of drinking water (DW) biofilm communities. Thus, this study characterized the bacterial community structure over a 7-month period within mature (> 600-day-old) copper DW biofilms in reactors simulating premise plumbing and assessed the impact of temperature and introduction of Lp and its FLA host, Vermamoeba vermiformis (Vv), co-cultures (LpVv)...
January 18, 2017: Microbial Biotechnology
https://www.readbyqxmd.com/read/28097170/microsatellite-ssr-amplification-by-pcr-usually-led-to-polymorphic-bands-evidence-which-shows-replication-slippage-occurs-in-extend-or-nascent-dna-strands
#8
Abasalt Hosseinzadeh-Colagar, Mohammad Javad Haghighatnia, Zahra Amiri, Maryam Mohadjerani, Majid Tafrihi
Microsatellites or simple sequence repeats (SSRs) are very effective molecular markers in population genetics, genome mapping, taxonomic study and other large-scale studies. Variation in number of tandem repeats within microsatellite refers to simple sequence length polymorphism (SSLP); but there are a few studies that are showed SSRs replication slippage may be occurred during in vitro amplification which are produced 'stutter products' differing in length from the main products. The purpose of this study is introducing a reliable method to realize SSRs replication slippage...
September 2016: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/28096965/molecular-typing-of-nosocomial-staphylococcus-aureus-strains-associated-to-biofilm-based-on-the-coagulase-and-protein-a-gene-polymorphisms
#9
Ali Salehzadeh, Hojjatolah Zamani, Maedeh Keshtkar Langeroudi, Amir Mirzaie
OBJECTIVES: Staphylococcus aureus is an important bacterial pathogen responsible for a variety numbers of nosocomial and community acquired infections. Biofilm formation is regarded as an important factor in the establishment of S. aureus infection. The contribution of the genetic background of S. aureus to biofilm formation is poorly understood. The aim of the present work was to genotype S. aureus strains associated to biofilm based on the coagulase and protein A genes and to evaluate the association between the genetic background and the biofilm forming ability of clinical S...
December 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28096862/does-nosema-ceranae-wipe-out-nosema-apis-in-turkey
#10
Rahşan Ivgin Tunca, Devrim Oskay, Ayhan Gosterit, Olgay Kaan Tekin
BACKGROUND: The aim of this study was to determine the prevalence of the Nosema ceranae and Nosema apis among apiaries using both spore counts and multiplex PCR and the replacement of N. apis by N. ceranae in some regions of Turkey. METHODS: A hundred honey bee samples were collected from 99 apiaries in 11 different locations in 2011-2012 in Turkey. Nosema infection degree from collected samples was determined using light microscope and molecular detection of Nosema spp...
April 2016: Iranian Journal of Parasitology
https://www.readbyqxmd.com/read/28096624/genetic-variability-and-discrimination-of-low-doses-of-toxocara-spp-from-public-areas-soil-inferred-by-loop-mediated-isothermal-amplification-assay-as-a-field-friendly-molecular-tool
#11
Maryam Ozlati, Adel Spotin, Abbas Shahbazi, Mahmoud Mahami-Oskouei, Teimour Hazratian, Mohammad Adibpor, Ehsan Ahmadpour, Afsaneh Dolatkhah, Paria Khoshakhlagh
ABSTRACT: Aim: One of the main diagnostic problems of conventional polymerase chain reaction (PCR) is indiscrimination of low parasitic loads in soil samples. The aim of this study is to determine the genetic diversity and identification of Toxocara spp. from public areas soil inferred by loop-mediated isothermal amplification (LAMP) assay. MATERIALS AND METHODS: A total of 180 soil samples were collected from various streets and public parks of northwest Iran. The DNA of recovered Toxocara eggs were extracted and amplified by PCR and LAMP following ZnSO4 flotation technique...
December 2016: Veterinary World
https://www.readbyqxmd.com/read/28096606/phylogenetic-analysis-of-glycoprotein-b-gene-sequences-of-bovine-herpesvirus-1-isolates-from-india-reveals-the-predominance-of-subtype-1-1
#12
S S Patil, A Prajapati, D Hemadri, K P Suresh, G S Desai, G B Manjunatha Reddy, B M Chandranaik, S Ranganatha, H Rahman
AIM: This study was conducted for the isolation and molecular characterization of bovine herpesvirus 1 (BoHV-1) isolated from the nasal and vaginal swabs collected from naturally infected cattle showing clinical symptoms of the respiratory disease. MATERIALS AND METHODS: Isolation of BoHV-1 virus performed on clinical samples collected from 65 cattle from five states of India. The BoHV-1 isolates were further confirmed by polymerase chain reaction (PCR) using primers specific for glycoprotein B (gB) genomic region...
December 2016: Veterinary World
https://www.readbyqxmd.com/read/28096357/prion-replication-without-host-adaptation-during-interspecies-transmissions
#13
Jifeng Bian, Vadim Khaychuk, Rachel C Angers, Natalia Fernández-Borges, Enric Vidal, Crystal Meyerett-Reid, Sehun Kim, Carla L Calvi, Jason C Bartz, Edward A Hoover, Umberto Agrimi, Jürgen A Richt, Joaquín Castilla, Glenn C Telling
Adaptation of prions to new species is thought to reflect the capacity of the host-encoded cellular form of the prion protein (PrP(C)) to selectively propagate optimized prion conformations from larger ensembles generated in the species of origin. Here we describe an alternate replicative process, termed nonadaptive prion amplification (NAPA), in which dominant conformers bypass this requirement during particular interspecies transmissions. To model susceptibility of horses to prions, we produced transgenic (Tg) mice expressing cognate PrP(C) Although disease transmission to only a subset of infected TgEq indicated a significant barrier to EqPrP(C) conversion, the resulting horse prions unexpectedly failed to cause disease upon further passage to TgEq...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28095868/pik3ca-mutations-are-common-in-lobular-carcinoma-in-situ-but-are-not-a-biomarker-of-progression
#14
Vandna Shah, Salpie Nowinski, Dina Levi, Irek Shinomiya, Narda Kebaier Ep Chaabouni, Cheryl Gillett, Anita Grigoriadis, Trevor A Graham, Rebecca Roylance, Michael A Simpson, Sarah E Pinder, Elinor J Sawyer
BACKGROUND: Lobular carcinoma in situ (LCIS) is a non-invasive breast lesion that is typically found incidentally on biopsy and is often associated with invasive lobular carcinoma (ILC). LCIS is considered by some to be a risk factor for future breast cancer rather than a true precursor lesion. The aim of this study was to identify genetic changes that could be used as biomarkers of progression of LCIS to invasive disease using cases of pure LCIS and comparing their genetic profiles to LCIS which presented contemporaneously with associated ILC, on the hypothesis that the latter represents LCIS that has already progressed...
January 17, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28095790/comparison-of-loop-mediated-isothermal-amplification-assay-and-smear-microscopy-with-culture-for-the-diagnostic-accuracy-of-tuberculosis
#15
Baye Gelaw, Yitayal Shiferaw, Marta Alemayehu, Abate Assefa Bashaw
BACKGROUND: Tuberculosis (TB) caused by Mycobacterium tuberculosis is one of the leading causes of death from infectious diseases worldwide. Sputum smear microscopy remains the most widely available pulmonary TB diagnostic tool particularly in resource limited settings. A highly sensitive diagnostic with minimal infrastructure, cost and training is required. Hence, we assessed the diagnostic performance of Loop-mediated isothermal amplification (LAMP) assay in detecting M.tuberculosis infection in sputum sample compared to LED fluorescent smear microscopy and culture...
January 17, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28095770/the-unique-genomic-landscape-surrounding-the-epsps-gene-in-glyphosate-resistant-amaranthus-palmeri-a-repetitive-path-to-resistance
#16
William T Molin, Alice A Wright, Amy Lawton-Rauh, Christopher A Saski
BACKGROUND: The expanding number and global distributions of herbicide resistant weedy species threaten food, fuel, fiber and bioproduct sustainability and agroecosystem longevity. Amongst the most competitive weeds, Amaranthus palmeri S. Wats has rapidly evolved resistance to glyphosate primarily through massive amplification and insertion of the 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS) gene across the genome. Increased EPSPS gene copy numbers results in higher titers of the EPSPS enzyme, the target of glyphosate, and confers resistance to glyphosate treatment...
January 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28095659/molecular-characterization-of-nippostrongylus-brasiliensis-nematoda-heligmosomatidae-from-mus-musculus-in-india
#17
Anshu Chaudhary, Urvashi Goswami, Hridaya Shanker Singh
Mus musculus (Rodentia: Muridae) has generally been infected with a rodent hookworm Nippostrongylus brasiliensis. In this report, we present morphological and molecular identification of N. brasiliensis by light and scanning electron microscopy and PCR amplification of mitochondrial cytochrome c oxidase subunit 1 (cox1) gene and the protein sequences encoded by cox1 gene, respectively. Despite the use of N. brasiliensis in many biochemistry studies from India, their taxonomic identification was not fully understood, especially at the species level, and no molecular data is available in GenBank from India...
December 2016: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/28095434/field-evaluation-of-a-high-throughput-loop-mediated-isothermal-amplification-test-for-the-detection-of-asymptomatic-plasmodium-infections-in-zanzibar
#18
Berit Aydin-Schmidt, Ulrika Morris, Xavier C Ding, Irina Jovel, Mwinyi I Msellem, Daniel Bergman, Atiqul Islam, Abdullah S Ali, Spencer Polley, Iveth J Gonzalez, Andreas Mårtensson, Anders Björkman
BACKGROUND: New field applicable diagnostic tools are needed for highly sensitive detection of residual malaria infections in pre-elimination settings. Field performance of a high throughput DNA extraction system for loop mediated isothermal amplification (HTP-LAMP) was therefore evaluated for detecting malaria parasites among asymptomatic individuals in Zanzibar. METHODS: HTP-LAMP performance was evaluated against real-time PCR on 3008 paired blood samples collected on filter papers in a community-based survey in 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28095352/the-relationship-of-rel-proto-oncogene-to-pathobiology-and-chemoresistance-in-follicular-and-transformed-follicular-lymphoma
#19
Xiaozhou Hu, Esra Baytak, Jinnan Li, Burcu Akman, Kaan Okay, Genfu Hu, Anna Scuto, Wenyan Zhang, Can Küçük
Follicular lymphoma (FL) is a common type of indolent lymphoma that occasionally transforms to more aggressive B-cell lymphomas. These transformed follicular lymphomas (tFL) are often associated with chemoresistance whose mechanisms are currently unknown. REL, a proto-oncogene located on frequently amplified 2p16.1-p15 locus, promotes tumorigenesis in many cancer types through deregulation of the NF-κB pathway; however, its role in FL pathobiology or chemoresistance has not been addressed. Here, we evaluated REL gene copy number by q-PCR on FFPE FL tumor samples, and observed REL amplification in 30...
January 9, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28095298/molecular-identification-and-genotyping-of-trypanosoma-cruzi-dna-in-autochthonous-chagas-disease-patients-from-texas-usa
#20
Melissa N Garcia, Hadley Burroughs, Rodion Gorchakov, Sarah M Gunter, Eric Dumonteil, Kristy O Murray, Claudia P Herrera
The parasitic protozoan Trypanosoma cruzi, the causative agent of Chagas disease, is widely distributed throughout the Americas, from the southern United States (US) to northern Argentina, and infects at least 6 million people in endemic areas. Much remains unknown about the dynamics of T. cruzi transmission among mammals and triatomine vectors in sylvatic and peridomestic eco-epidemiological cycles, as well as of the risk of transmission to humans in the US. Identification of T. cruzi DTUs among locally-acquired cases is necessary for enhancing our diagnostic and clinical prognostic capacities, as well as to understand parasite transmission cycles...
January 14, 2017: Infection, Genetics and Evolution
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