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https://www.readbyqxmd.com/read/27936213/radiologic-histopathologic-correlation-of-cerebral-microbleeds-using-pre-mortem-and-post-mortem-mri
#1
Sven Haller, Marie-Louise Montandon, François Lazeyras, Max Scheffler, Stephan Meckel, Francois R Herrmann, Panteleimon Giannakopoulos, Enikö Kövari
INTRODUCTION: Cerebral microbleeds (CMB), also known as cerebral microhemorrhages, are small areas of susceptibility on brain magnetic resonance imaging (MRI), that are increasingly detected due to the higher availability of high-field MRI systems and dedicated pulse sequences. The prevalence of CMBs increases in cases with cognitive decline. The current investigation assessed the poorly investigated radiologic-histopathologic correlation of CMBs on MRI. METHODS: The local ethical committee approved the current investigation...
2016: PloS One
https://www.readbyqxmd.com/read/27936101/susceptibility-to-aminoglycosides-and-distribution-of-aph-and-aac-3-xi-genes-among-corynebacterium-striatum-clinical-isolates
#2
Jesús Navas, Marta Fernández-Martínez, Carlos Salas, María Eliecer Cano, Luis Martínez-Martínez
Corynebacterium striatum is an opportunistic pathogen, often multidrug-resistant, which has been associated with serious infections in humans. Aminoglycosides are second-line or complementary antibiotics used for the treatment of Corynebacterium infections. We investigated the susceptibility to six aminoglycosides and the molecular mechanisms involved in aminoglycoside resistance in a collection of 64 Corynebacterium striatum isolated in our laboratory during the period 2005-2009. Antimicrobial susceptibility was determined using E-test...
2016: PloS One
https://www.readbyqxmd.com/read/27935989/brcaness-and-prognosis-in-triple-negative-breast-cancer-patients-treated-with-neoadjuvant-chemotherapy
#3
Hirokazu Tanino, Yoshimasa Kosaka, Hiroshi Nishimiya, Youko Tanaka, Naoko Minatani, Mariko Kikuchi, Akiko Shida, Mina Waraya, Hiroshi Katoh, Takumo Enomoto, Norihiko Sengoku, Sabine Kajita, Robert M Hoffman, Masahiko Watanabe
BRCAness is defined as the set of traits in which BRCA1 dysfunction, arising from gene mutation, methylation or deletion, results in DNA repair deficiency. In the present study, we addressed BRCAness, therapeutic efficacy, recurrence, and survival in patients with triple negative breast cancer (TNBC) who were treated with neoadjuvant chemotherapy at Kitasato University Hospital, Japan, between April 2006 and October 2012. BRCAness was determined by preoperative core needle biopsy (CNB) specimens and surgical specimens...
2016: PloS One
https://www.readbyqxmd.com/read/27935861/microrna-203-predicts-human-survival-after-resection-of-colorectal-liver-metastasis
#4
T Peter Kingham, Hoang C B Nguyen, Jian Zheng, Ioannis T Konstantinidis, Eran Sadot, Jinru Shia, Deborah Kuk, Steven Zhang, Leonard Saltz, Michael I D'Angelica, William R Jarnagin, Hani Goodarzi, Sohail F Tavazoie
BACKGROUND: Resection of colorectal liver metastasis (CRLM) can be curative. Predicting which patients may benefit from resection, however, remains challenging. Some microRNAs (miRNAs) become deregulated in cancers and contribute to cancer progression. We hypothesized that miRNA expression can serve as a prognostic marker of survival after CRLM resection. RESULTS: MiR-203 was significantly overexpressed in tumors of short-term survivors compared to long-term survivors...
December 7, 2016: Oncotarget
https://www.readbyqxmd.com/read/27935851/an-analysis-of-the-sequence-of-the-bad-gene-among-patients-with-maturity-onset-diabetes-of-the-young-mody
#5
Karolina Antosik, Piotr Gnyś, Przemysława Jarosz-Chobot, Małgorzata Myśliwiec, Agnieszka Szadkowska, Maciej Małecki, Wojciech Młynarski, Maciej Borowiec
BACKGROUND: Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations. METHODS: A group of 122 diabetic patients were recruited from the "Polish Registry for Paediatric and Adolescent Diabetes - nationwide genetic screening for monogenic diabetes" project...
December 9, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27935413/stable-core-virome-despite-variable-microbiome-after-fecal-transfer
#6
Felix Broecker, Giancarlo Russo, Jochen Klumpp, Karin Moelling
We recently described the 4.5-year time course of the enteric bacterial microbiota and virome of a patient cured from recurrent Clostridium difficile infection (rCDI) by fecal microbiota transplantation (FMT). Here, we extended the virome analyses and found the patient's phage population to exhibit highly donor-similar characteristics following FMT, which remained stable for the whole period tested (up to 7 months). Moreover, the detected viral populations of donor and patient exhibited comparable diversity and richness...
December 9, 2016: Gut Microbes
https://www.readbyqxmd.com/read/27935159/de-novo-sequencing-of-highly-modified-therapeutic-oligonucleotides-by-hydrophobic-tag-sequencing-coupled-with-lc-ms
#7
Rieko Goto, Shin Miyakawa, Emire Inomata, Tomonori Takami, Junji Yamaura, Yoshikazu Nakamura
Correct sequences are prerequisite for quality control of therapeutic oligonucleotides. However, there is no definitive method available for determining sequences of highly modified therapeutic RNAs, and thereby most of the oligonucleotides have been used clinically without direct sequence determination. In this study, we developed a novel sequencing method called 'hydrophobic tag sequencing'. Highly modified oligonucleotides are sequenced by partially digesting oligonucleotides conjugated with a 5'-hydrophobic tag, followed by liquid chromatography-mass spectrometry analysis...
December 9, 2016: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/27935012/mutational-analysis-of-agxt-in-tunisian-population-with-primary-hyperoxaluria-type-1
#8
Saoussen M'dimegh, Asma Omezzine, Ibtihel M'barek, Amira Moussa, Sameh Mabrouk, Hayet Kaarout, Geneviéve Souche, Jalel Chemli, Sabra Aloui, Cécile Aquaviva-Bourdain, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous disorder. The aim of our study was to analyze and characterize the mutational spectrum of PH1 in Tunisian patients. MATERIALS AND METHODS: Molecular studies of 146 Tunisian patients suspected with PH were performed by PCR/Restriction fragment length polymorphism (RFLP) to detect seven mutations described as the most common...
December 9, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27934909/characterization-of-the-first-double-stranded-rna-bacteriophage-infecting-pseudomonas-aeruginosa
#9
Yuhui Yang, Shuguang Lu, Wei Shen, Xia Zhao, Mengyu Shen, Yinling Tan, Gang Li, Ming Li, Jing Wang, Fuquan Hu, Shuai Le
Bacteriophages (phages) are widely distributed in the biosphere and play a key role in modulating microbial ecology in the soil, ocean, and humans. Although the role of DNA bacteriophages is well described, the biology of RNA bacteriophages is poorly understood. More than 1900 phage genomes are currently deposited in NCBI, but only 6 dsRNA bacteriophages and 12 ssRNA bacteriophages genome sequences are reported. The 6 dsRNA bacteriophages were isolated from legume samples or lakes with Pseudomonas syringae as the host...
December 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27934825/molecular-analysis-of-rv0679c-and-rv0180c-genes-of-mycobacterium-tuberculosis-from-clinical-isolates-of-pulmonary-tuberculosis
#10
L Rupa, A Srikantam, S S Lakshmana Rao, U Devi, Ksr Sivasai
CONTEXT: Two novel proteins/genes Rv0679c and Rv0180c of Mycobacterium tuberculosis (MTB) H37Rv were classified as a hypothetical membrane and transmembrane proteins which might have a role in the invasion. Molecular analysis of these genes in human clinical isolates of pulmonary tuberculosis (PTB) patients was not well characterised. AIMS: To assess the molecular diversity of Rv0679c and Rv0180c genes of MTB from clinical isolates of PTB patients. SETTINGS AND DESIGN: DNA from 97 clinical isolates was extracted and subjected to amplification using selective primers by polymerase chain reaction (PCR)...
October 2016: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/27934809/wilms-tumour-1-gene-mutations-in-south-indian-children-with-steroid-resistant-nephrotic-syndrome
#11
Aravind Selvin Kumar, R Srilakshmi, Smk Karthickeyan, K Balakrishnan, R Padmaraj, Prabha Senguttuvan
BACKGROUND & OBJECTIVES: Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment, and within ten years they progress to end-stage renal disease. The present study was undertaken to identify the mutations of Wilms' tumour 1 (WT1) gene in steroid-resistant NS (SRNS) children. METHODS: A total of 173 children with SRNS and 100 children in the control group were enrolled in the study. DNA extraction was done, screened for WT1 (exons 8 and 9) gene amplified by polymerase chain reaction and direct sequencing...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27934799/subtelomeric-rearrangements-in-indian-children-with-idiopathic-intellectual-disability-developmental-delay-frequency-estimation-clinical-correlation-using-fluorescence-in-situ-hybridization-fish
#12
Shruthi Mohan, Teena Koshy, Perumal Vekatachalam, Sheela Nampoothiri, Dhanya Yesodharan, Kalpana Gowrishankar, Jeevan Kumar, Latha Ravichandran, Santhosh Joseph, Anupama Chandrasekaran, Solomon F D Paul
BACKGROUND & OBJECTIVES: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27934798/identification-of-a-novel-collagen-type-iv-alpha-4-col4a4-mutation-in-a-chinese-family-with-autosomal-dominant-alport-syndrome-using-exome-sequencing
#13
Sheng Deng, Hongbo Xu, Jinzhong Yuan, Jingjing Xiao, Lamei Yuan, Xiong Deng, Liping Guan, Anding Zhu, Pengfei Rong, Jianguo Zhang, Hao Deng
BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing. METHODS: A 4-generation, 30-member Chinese Han family was enrolled in this study. Exome sequencing was conducted in the proband of the family, and then direct sequencing was performed in family members of the pedigree and 100 normal controls...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27934116/sensitive-surface-enhanced-raman-scattering-based-detection-of-a-bigh3-point-mutation-associated-with-avellino-corneal-dystrophy
#14
Saetbyeol Kim, Su-Nam Jeong, Sangsu Bae, Hoeil Chung, So Young Yoo
Surface enhanced Raman scattering (SERS) is highly useful for sensitive analytical sensing; however, its practical availability for detecting a point mutation associated with disease in clinical sample was rarely proved. Herein, we present a toehold-mediated, DNA displacement-based, SERS sensor for detecting point mutations in the BIGH3 gene associated with the most common corneal dystrophies (CDs) in a clinical setting. To diagnose Avellino corneal dystrophy (ACD), selectivity was ensured by exploring optimal DNA displacement conditions such as length of toehold and hybridization temperature...
December 6, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/27933786/plasmodium-falciparum-cyclic-amine-resistance-locus-pfcarl-a-resistance-mechanism-for-two-distinct-compound-classes
#15
Pamela A Magistrado, Victoria C Corey, Amanda K Lukens, Greg LaMonte, Erika Sasaki, Stephan Meister, Melanie Wree, Elizabeth Winzeler, Dyann F Wirth
MMV007564 is a novel antimalarial benzimidazolyl piperidine chemotype identified in cellular screens. To identify the genetic determinant of MMV007564 resistance, parasites were cultured in the presence of the compound to generate resistant lines. Whole genome sequencing revealed distinct mutations in the gene named Plasmodium falciparum cyclic amine resistance locus (pfcarl), encoding a conserved protein of unknown function. Mutations in pfcarl are strongly associated with resistance to a structurally unrelated class of compounds, the imidazolopiperazines, including KAF156, currently in clinical trials...
November 11, 2016: ACS Infectious Diseases
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#16
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933493/norovirus-gii-pe-genotype-tracking-a-foodborne-outbreak-on-a-cruise-ship-through-molecular-epidemiology-brazil-2014
#17
Simone Guadagnucci Morillo, Adriana Luchs, Audrey Cilli, Cibele Daniel Ribeiro, Rita de Cássia Compagnoli Carmona, Maria do Carmo Sampaio Tavares Timenetsky
Norovirus (NoV) is recognized as the most common cause of foodborne outbreaks. In 2014, an outbreak of acute gastroenteritis occurred on a cruise ship in Brazil, and NoV became the suspected etiology. Here we present the molecular identification of the NoV strains and the use of sequence analysis to determine modes of virus transmission. Food (cream cheese, tuna salad, grilled fish, orange mousse, and vegetables soup) and clinical samples were analyzed by ELISA, conventional RT-PCR, qRT-PCR, and sequencing...
December 8, 2016: Food and Environmental Virology
https://www.readbyqxmd.com/read/27933313/genetic-engineering-of-chimeric-antigen-receptors-using-lamprey-derived-variable-lymphocyte-receptors
#18
Robert Moot, Sunil S Raikar, Lauren Fleischer, Melissa Querrey, Daniel E Tylawsky, Hirotomo Nakahara, Christopher B Doering, H Trent Spencer
Chimeric antigen receptors (CARs) are used to redirect effector cell specificity to selected cell surface antigens. Using CARs, antitumor activity can be initiated in patients with no prior tumor specific immunity. Although CARs have shown promising clinical results, the technology remains limited by the availability of specific cognate cell target antigens. To increase the repertoire of targetable tumor cell antigens we utilized the immune system of the sea lamprey to generate directed variable lymphocyte receptors (VLRs)...
2016: Molecular Therapy Oncolytics
https://www.readbyqxmd.com/read/27933214/integrating-next-generation-sequencing-into-clinical-oncology-strategies-promises-and-pitfalls
#19
REVIEW
Peter Horak, Stefan Fröhling, Hanno Glimm
We live in an era of genomic medicine. The past five years brought about many significant achievements in the field of cancer genetics, driven by rapidly evolving technologies and plummeting costs of next-generation sequencing (NGS). The official completion of the Cancer Genome Project in 2014 led many to envision the clinical implementation of cancer genomic data as the next logical step in cancer therapy. Stemming from this vision, the term 'precision oncology' was coined to illustrate the novelty of this individualised approach...
2016: ESMO Open
https://www.readbyqxmd.com/read/27933190/canine-parvovirus-cpv-2-variants-circulating-in-nigerian-dogs
#20
T T Apaa, J M Daly, R E Tarlinton
Canine parvovirus type 2 (CPV-2) is a highly contagious viral disease with three variants (CPV-2a, CPV-2b and CPV-2c) currently circulating in dogs worldwide. The main aim of this study was to determine the prevalent CPV-2 variant in faecal samples from 53 dogs presenting with acute gastroenteritis suspected to be and consistent with CPV-2 to Nigerian Veterinary Clinics in 2013-2014. Seventy-five per cent of these dogs tested positive for CPV-2 in a commercial antigen test and/or by PCR. Partial sequencing of the VP2 gene of six of these demonstrated them to be CPV-2a...
2016: Veterinary Record Open
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