keyword
MENU ▼
Read by QxMD icon Read
search

Clinical sequencing

keyword
https://www.readbyqxmd.com/read/28806866/molecular-screening-and-single-nucleotide-polymorphism-typing-of-molluscum-contagiosum-virus-mcv-from-genital-specimens-between-2012-and-2015
#1
Sedigheh Taghinezhad-S, Amir Hossein Mohseni, Hossein Keyvani, Narges Ghobadi
Background: The present study is the first comprehensive report of the Molluscum contagiosum virus (MCV) in Iran based on the molecular technique for differentiation and typing of the MCV1 and MCV2. Methods: Patients were diagnosed as having tumor-like genital warts less than 5 mm in diameter, and HIV seronegative samples were chosen for this cross-sectional study. TaqMan real-time PCR was used to identify MCV following clinical examination. Typing of the MCV-positive specimens was performed in the SNP A27451G region of MC021L gene...
August 15, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28806589/novel-clinical-manifestations-in-patients-with-kcna2-mutations
#2
Monisha Sachdev, Marina Gaínza-Lein, Dmitry Tchapyjnikov, Yong-Hui Jiang, Tobias Loddenkemper, Mohamad A Mikati
PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and Sanger sequencing. Seizure types were characterized by clinical criteria and EEG recording. RESULTS: KCNA2 mutations have been reported in 10 cases who presented with focal, absence, generalized tonic-clonic or myoclonic astatic seizures. Here we describe 3 patients with previously unreported, more severe manifestations...
August 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#3
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28805986/histiocytic-sarcoma-new-insights-into-fna-cytomorphology-and-molecular-characteristics
#4
Yin P Hung, Scott B Lovitch, Xiaohua Qian
BACKGROUND: Histiocytic sarcoma (HS) is a rare malignant neoplasm showing morphologic and immunophenotypic features of histiocytes. Molecular characteristics of HS and fine-needle aspiration (FNA) criteria for its diagnosis have not been established. METHODS: A case series of HS in 8 FNA samples from 6 patients was reviewed along with histopathologic and clinical data. Immunohistochemistry was performed on cell blocks (3 cases), core biopsies (5 cases), and surgical specimens (4 cases)...
August 2017: Cancer
https://www.readbyqxmd.com/read/28805797/human-genomics-projects-and-precision-medicine
#5
REVIEW
F Carrasco-Ramiro, R Peiró-Pastor, B Aguado
The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialised goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine...
August 14, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28805541/lack-of-foxe3-coding-mutation-in-a-case-of-congenital-aphakia
#6
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-Hei Sonoda, Hiroyuki Kondo
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment...
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28805043/fatal-peste-des-petits-ruminants-disease-in-chowsingha
#7
S Jaisree, R P Aravindhbabu, P Roy, M G Jayathangaraj
This communication reports fatal Peste des petits ruminants (PPR) disease in Chowsingha (Tetracerus quadricornis), a member of the subfamily Bovinae and family Bovidae captured in a Zoological Park. The animals showed clinical signs of acute respiratory disease with frothy nasal discharge (1-2 days) and mortality of twenty animals (80%) within 48 hr. Necropsy of dead Chowsingha showed haemorrhagic patches in trachea and severe congestion of lungs and ocular mucosa. There was no characteristic lesion in the intestine...
August 14, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28804918/low-rank-approximation-methods-for-mr-fingerprinting-with-large-scale-dictionaries
#8
Mingrui Yang, Dan Ma, Yun Jiang, Jesse Hamilton, Nicole Seiberlich, Mark A Griswold, Debra McGivney
PURPOSE: This work proposes new low rank approximation approaches with significant memory savings for large scale MR fingerprinting (MRF) problems. THEORY AND METHODS: We introduce a compressed MRF with randomized singular value decomposition method to significantly reduce the memory requirement for calculating a low rank approximation of large sized MRF dictionaries. We further relax this requirement by exploiting the structures of MRF dictionaries in the randomized singular value decomposition space and fitting them to low-degree polynomials to generate high resolution MRF parameter maps...
August 13, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#9
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28803969/molecular-detection-and-characterization-of-influenza-c-viruses-from-western-india
#10
V A Potdar, D D Hinge, M R Dakhave, A Manchanda, N Jadhav, P B Kulkarni, M S Chadha
Since 2003, India has had a well-established influenza surveillance network, though Influenza C virus was not the focus of study. We therefore retrospectively analyzed clinical samples from Pune, western India collected during January 2009 to August 2015, by real-time RT-PCR. Three of 2530 samples of patients with influenza-like illness (ILI) or severe acute respiratory illness (SARI) showed positivity for Influenza C virus infection, while 105 and 31 samples were positive for Influenza A and B viruses respectively...
August 10, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28803919/therapy-related-clonal-hematopoiesis-in-patients-with-non-hematologic-cancers-is-common-and-associated-with-adverse-clinical-outcomes
#11
Catherine C Coombs, Ahmet Zehir, Sean M Devlin, Ashwin Kishtagari, Aijazuddin Syed, Philip Jonsson, David M Hyman, David B Solit, Mark E Robson, José Baselga, Maria E Arcila, Marc Ladanyi, Martin S Tallman, Ross L Levine, Michael F Berger
Clonal hematopoiesis (CH), as evidenced by recurrent somatic mutations in leukemia-associated genes, commonly occurs among aging human hematopoietic stem cells. We analyzed deep-coverage, targeted, next-generation sequencing (NGS) data of paired tumor and blood samples from 8,810 individuals to assess the frequency and clinical relevance of CH in patients with non-hematologic malignancies. We identified CH in 25% of cancer patients, with 4.5% harboring presumptive leukemia driver mutations (CH-PD). CH was associated with increased age, prior radiation therapy, and tobacco use...
August 9, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28803747/novel-heterozygous-mutations-of-the-insr-gene-in-a-familial-case-of-donohue-syndrome
#12
Litao Qin, Xiaobo Li, Qiaofang Hou, Hongdan Wang, Guiyu Lou, Tao Li, Li Wang, Hongyan Liu, Xichuan Li, Shixiu Liao
Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor (INSR) gene. Here, we have reported the clinical, molecular, and biochemical characterizations of a patient with DS. In this article, we have also reported a case with 2 novel INSR mutations and the DS phenotype. Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c...
August 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28803510/epizootic-hemorrhagic-disease-virus-serotype-6-outbreak-in-israeli-cattle-in-2015
#13
Natalia Golender, Yevgeny Khinich, Anna Gorohov, Itzik Abramovitz, Velizar Bumbarov
In September 2015, a large outbreak caused by epizootic hemorrhagic disease virus (EHDV) was identified in Israeli dairy and beef farms. The main clinical signs were reduced milk production, weakness, drooling, lameness and recumbency, fever, slight erythema of nasal and oral mucosae, weight loss, and abortion. Dyspnea, cachexia, and death were observed less frequently. The clinical diagnosis was confirmed by ELISAs and EHDV-specific real-time reverse transcription PCR (RT-rtPCR), followed by conventional RT-PCR of the VP2 gene and sequence analysis...
August 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28803479/design-of-cyclic-peptides-based-glucose-receptors-and-their-application-in-glucose-sensing
#14
Chao Li, Xin Chen, Fuyuan Zhang, Xingxing He, Guozhen Fang, Jifeng Liu, Shuo Wang
Glucose assay is of great scientific significance in clinical diagnostics and bioprocess monitoring and to design new glucose receptor is necessary for development of more sensitive, selective and robust glucose detection techniques. Herein, a series of cyclic peptides (CPs) glucose receptor were designed to mimic the binding sites of glucose binding protein (GBP) and CPs' sequence contained amino acid sites Asp, Asn, His, Asp, Arg, which constituted the first layer interactions of GBP. The properties of these CPs used as a glucose receptor or substitute for the GBP were studied by using quartz crystal microbalance (QCM) technique...
August 14, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28803018/short-communication-molecular-characteristics-antimicrobial-susceptibility-and-pathogenicity-of-clinical-nocardia-cyriacigeorgica-isolates-from-an-outbreak-of-bovine-mastitis
#15
Wei Chen, Yongxia Liu, Herman W Barkema, Jian Gao, Jeroen De Buck, John P Kastelic, Gang Liu, Tariq Ali, Muhammad Shahid, Bo Han
The occurrence of nocardial mastitis, mostly in the context of outbreaks, has been reported in many countries. However, there is a paucity of reports regarding detailed characterization of Nocardia cyriacigeorgica from bovine mastitis. Thus, herein we report characteristics, antimicrobial susceptibility patterns, molecular identification, and pathogenicity of N. cyriacigeorgica isolated from an outbreak of clinical mastitis in a dairy herd in northern China. A total of 182 (80.2%) lactating cows had clinical mastitis with severe inflammation and firmness of the udder, reduced milk production, and anorexia, with no apparent clinical response to common antibiotics...
August 9, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28802831/validation-of-a-targeted-rna-sequencing-assay-for-kinase-fusion-detection-in-solid-tumors
#16
Julie W Reeser, Dorrelyn Martin, Jharna Miya, Esko A Kautto, Ezra Lyon, Eliot Zhu, Michele R Wing, Amy Smith, Matthew Reeder, Eric Samorodnitsky, Hannah Parks, Karan R Naik, Joseph Gozgit, Nicholas Nowacki, Kurtis D Davies, Marileila Varella-Garcia, Lianbo Yu, Aharon G Freud, Joshua Coleman, Dara L Aisner, Sameek Roychowdhury
Kinase gene fusions are important drivers of oncogenic transformation and can be inhibited with targeted therapies. Clinical grade diagnostics using RNA sequencing to detect gene rearrangements in solid tumors are limited, and the few that are available require prior knowledge of fusion break points. To address this, we have analytically validated a targeted RNA sequencing assay (OSU-SpARKFuse) for fusion detection that interrogates complete transcripts from 93 kinase and transcription factor genes. From a total of 74 positive and 36 negative control samples, OSU-SpARKFuse had 93...
August 8, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28802774/a-rule-based-dose-finding-design-for-use-in-stroke-rehabilitation-research-methodological-development
#17
E Colucci, A Clark, C E Lang, V M Pomeroy
BACKGROUND: Dose-optimisation studies as precursors to clinical trials are rare in stroke rehabilitation. OBJECTIVE: To develop a rule-based, dose-finding design for stroke rehabilitation research. DESIGN: 3+3 rule-based, dose-finding study. Dose escalation/de-escalation was undertaken according to preset rules and a mathematical sequence (modified Fibonacci sequence). The target starting daily dose was 50 repetitions for the first cohort...
January 20, 2017: Physiotherapy
https://www.readbyqxmd.com/read/28802623/an-analytical-model-which-determines-the-apparent-t1-for-modified-look-locker-inversion-recovery-analysis-of-the-longitudinal-relaxation-under-the-influence-of-discontinuous-balanced-classical-molli-and-spoiled-gradient-echo-readouts
#18
Thomas Kampf, Theresa Reiter, Wolfgang Rudolf Bauer
Quantitative nuclear magnetic resonance imaging (MRI) shifts more and more into the focus of clinical research. Especially determination of relaxation times without/and with contrast agents becomes the foundation of tissue characterization, e.g. in cardiac MRI for myocardial fibrosis. Techniques which assess longitudinal relaxation times rely on repetitive application of readout modules, which are interrupted by free relaxation periods, e.g. the Modified Look-Locker Inversion Recovery = MOLLI sequence. These discontinuous sequences reveal an apparent relaxation time, and, by techniques extrapolated from continuous readout sequences, a putative real T1 is determined...
August 9, 2017: Zeitschrift Für Medizinische Physik
https://www.readbyqxmd.com/read/28802585/genomics-of-the-new-species-kingella-negevensis-diagnostic-issues-identification-of-a-locus-encoding-a-rtx-toxin
#19
Onya Opota, Sacha Laurent, Trestan Pillonel, Marie Léger, Sabrina Trachsel, Guy Prod'hom, Katia Jaton, Gilbert Greub
Kingella kingae, producing the cytotoxic RTX protein, is a causative agent of serious infections in humans such as bacteremia, endocarditis and osteoarticular infection, especially in young children. Recently, Kingella negevensis, a related species, has been isolated from the oral cavity of healthy children. In this study, we report the isolation of K. negevensis strain eburonensis, initially misidentified as K. kingae with MALDI-TOF MS, from a vaginal specimen of a patient suffering of vaginosis. The genome sequencing and analysis of this strain together with comparative genomics of the Kingella genus revealed that K...
August 9, 2017: Microbes and Infection
https://www.readbyqxmd.com/read/28802406/real-time-pcr-followed-by-high-resolution-melting-curve-analysis-a-rapid-and-pragmatic-approach-for-screening-of-multidrug-resistant-extrapulmonary-tuberculosis
#20
Kusum Sharma, Megha Sharma, Shreya Singh, Manish Modi, Aman Sharma, Pallab Ray, Subhash Varma
INTRODUCTION: Multidrug resistance (MDR) in extrapulmonary tuberculosis (EPTB) is a diagnostic challenge in an endemic country like India. Timely detection of MDR-TB can contribute to a better patient outcome. OBJECTIVE: To perform real-time PCR (qPCR) using rpoB, mpb64 and IS6110 gene on a variety of EPTB samples and to compare the performance of different gene targets. All qPCR positive samples were subjected to high resolution melt-curve analysis (HRM analysis) for rpoB and katG gene to evaluate its potential for MDR screening among different sample types...
September 2017: Tuberculosis
keyword
keyword
99678
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"