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https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#1
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#2
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777780/pierre-robin-sequence-a-comprehensive-narrative-review-of-the-literature-over-time
#3
Amerigo Giudice, Selene Barone, Kahina Belhous, Anne Morice, Véronique Soupre, Francesco Bennardo, Nathalie Boddaert, Marie-Paule Vazquez, Véronique Abadie, Arnaud Picard
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...
May 16, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29777593/degradation-of-recombinant-proteins-by-cho-host-cell-proteases-is-prevented-by-matriptase-1-knock-out
#4
Holger Laux, Sandrine Romand, Sandro Nuciforo, Christopher J Farady, Joel Tapparel, Stine Buechmann-Moeller, Benjamin Sommer, Edward J Oakeley, Ursula Bodendorf
An increasing number of non-antibody format proteins are entering the clinical development. However, one of the major hurdles for the production of non-antibody glycoproteins is host cell-related proteolytic degradation, which can drastically impact developability and timelines of pipeline projects. Chinese hamster ovary (CHO) cells are the preferred production host for recombinant therapeutic proteins. Using protease inhibitors, transcriptomics and genetic knockdowns we have identified, out of the more than 700 known proteases in rodents, Matriptase-1 as the major protease involved in degradation of recombinant proteins expressed in CHO-K1 cells...
May 19, 2018: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/29777394/biomechanical-impact-of-wrong-positioning-of-a-dedicated-stent-for-coronary-bifurcations-a-virtual-bench-testing-study
#5
Claudio Chiastra, Maik J Grundeken, Carlos Collet, Wei Wu, Joanna J Wykrzykowska, Giancarlo Pennati, Gabriele Dubini, Francesco Migliavacca
The treatment of coronary bifurcations is challenging for interventional cardiologists. The Tryton stent (Tryton Medical, Inc., USA) is one of the few devices specifically designed for coronary bifurcations that underwent large clinical trials. Although the manufacturer provides specific recommendations to position the stent in the bifurcation side branch (SB) according to four radio-opaque markers under angiographic guidance, wrong device positioning may accidentally occur. In this study, the virtual bench testing approach was used to investigate the impact of wrong positioning of the Tryton stent in coronary bifurcations in terms of geometrical and biomechanical criteria...
May 17, 2018: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/29777376/comprehensive-molecular-diagnosis-of-epstein-barr-virus-associated-lymphoproliferative-diseases-using-next-generation-sequencing
#6
Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio
Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming...
May 18, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29777089/human-plasma-and-serum-extracellular-small-rna-reference-profiles-and-their-clinical-utility
#7
Klaas E A Max, Karl Bertram, Kemal Marc Akat, Kimberly A Bogardus, Jenny Li, Pavel Morozov, Iddo Z Ben-Dov, Xin Li, Zachary R Weiss, Azadeh Azizian, Anuoluwapo Sopeyin, Thomas G Diacovo, Catherine Adamidi, Zev Williams, Thomas Tuschl
Circulating extracellular RNAs (exRNAs) have the potential to serve as biomarkers for a wide range of medical conditions. However, limitations in existing exRNA isolation methods and a lack of knowledge on parameters affecting exRNA variability in human samples may hinder their successful discovery and clinical implementation. Using combinations of denaturants, reducing agents, proteolysis, and revised organic extraction, we developed an automated, high-throughput approach for recovery of exRNAs and exDNA from the same biofluid sample...
May 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29776930/modifying-the-lantibiotic-mutacin-1140-for-increased-yield-activity-and-stability
#8
Mengxin Geng, Leif Smith
Mutacin 1140 belongs to the epidermin family of type AI lantibiotics. This family has a broad spectrum of activity against Gram-positive bacteria. The binding of mutacin 1140 to lipid II leads to the inhibition of cell wall synthesis. Pharmacokinetic experiments on type AI lantibiotics are generally discouraging for clinical applications due to their short half-life. The unprotected dehydrated and protease susceptible residues outside of the lanthionine rings may play a role in their short half-life in physiological settings...
May 18, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29776928/enrichment-of-clinically-relevant-organisms-in-spontaneous-preterm-delivered-placenta-and-reagent-contamination-across-all-clinical-groups-in-a-large-uk-pregnancy-cohort
#9
Lydia J Leon, Ronan Doyle, Ernest Diez-Benavente, Taane G Clark, Nigel Klein, Philip Stanier, Gudrun E Moore
In this study differences in the placental microbiota of term and preterm deliveries from a large UK pregnancy cohort were studied using 16S targeted amplicon sequencing. The impact of contamination from DNA extraction, PCR reagents, as well as those from delivery itself were also examined. A total of 400 placental samples from 256 singleton pregnancies were analysed and differences investigated between spontaneous preterm, non-spontaneous preterm, and term delivered placenta. DNA from recently delivered placenta was extracted, and screening for bacterial DNA was carried out using targeted sequencing of the 16S rRNA gene on the Illumina MiSeq platform...
May 18, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29776865/gut-microbiota-in-patients-with-parkinson-s-disease-in-southern-china
#10
Aiqun Lin, Wenxia Zheng, Yan He, Wenli Tang, Xiaobo Wei, Rongni He, Wei Huang, Yuying Su, Yaowei Huang, Hongwei Zhou, Huifang Xie
INTRODUCTION: Accumulating evidence has revealed alterations in the communication between the gut and brain in patients with Parkinson's disease (PD), and previous studies have confirmed that alterations in the gut microbiome play an important role in the pathogenesis of numerous diseases, including PD. The aim of this study was to determine whether the faecal microbiome of PD patients in southern China differs from that of control subjects and whether the gut microbiome composition alters among different PD motor phenotypes...
May 16, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29776852/indications-for-mars-mri-in-patients-treated-with-articular-surface-replacement-xl-total-hip-arthroplasty
#11
James W Connelly, Vincent P Galea, Inari Laaksonen, Sean J Matuszak, Rami Madanat, Orhun Muratoglu, Henrik Malchau
BACKGROUND: The purpose of this study was to identify which patient and clinical factors are predictive of adverse local tissue reaction (ALTR) and to use these factors to create a highly sensitive algorithm for indicating metal artifact reduction sequence magnetic resonance imaging (MARS-MRI) in Articular Surface Replacement (ASR) XL total hip arthroplasty patients. Our secondary aim was to compare our algorithm to existing national guidelines on when to take MARS-MRI in metal-on-metal total hip arthroplasty patients...
April 19, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29776538/rapid-detection-of-calr-type-1-and-type-2-mutations-using-pna-lna-clamping-loop-mediated-isothermal-amplification-on-a-cd-like-microfluidic-chip
#12
Guojun Cao, Jilie Kong, Zhifang Xing, Yigui Tang, Xinju Zhang, Xiao Xu, Zhihua Kang, Xueen Fang, Ming Guan
Bleeding and thrombosis represent common complications in myeloproliferative neoplasms (MPN) and significantly contribute to morbidity and mortality. Molecular markers, including CALR mutations, were considered not only as diagnostic markers, but also as risk factors for bleeding and thrombosis associated with MPN, especially for patients in remote primary hospitals. We sought to develop an easy-to-use assay for the rapid detection of CALR type 1 (CALR-1) and type 2 (CALR-2) mutations in Philadelphia chromosome-negative MPN patients...
September 18, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29776440/radiological-pleuroparenchymal-fibroelastosis-associated-to-limited-cutaneous-systemic-sclerosis-a-case-report
#13
D Hassoun, S Dirou, P P Arrigoni, C Durant, M Hamidou, A Néel, C Agard
BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) is a very rare interstitial lung disease (ILD) characterized by progressive fibrotic lesions of the visceral pleura and the sub-pleural parenchyma, affecting predominantly the upper lobes. PPFE may occur in different contextes like bone marrow or lung transplantations, but also in the context of telomeropathy with mutations of telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) or regulator of telomere elongation helicase 1 (RTEL1) genes...
May 18, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29776430/recurrent-bilateral-mycobacterium-bovis-necrotizing-epididymitis-a-case-report
#14
Simon Grandjean-Lapierre, Simon-Djamel Thiberville, Mustapha Fellag, Christophe Eghazarian, Feriel Bouzid, Christina Gavril, Michel Drancourt
BACKGROUND: Mycobacterium bovis causing tuberculosis in animals is responsible for zoonotic tuberculosis in patients. Veterinary control measures and milk pasteurization has led to a significant decrease in human cases of M. bovis infections in developed countries. CASE PRESENTATION: We diagnosed recurrent M. bovis epididymitis in a 63-year old Caucasian man without any signs of pulmonary or disseminated disease. Relevant epidemiological expositions included camel milk drinking during prolonged travels in Niger, prior to initial clinical manifestations...
May 18, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29776392/molecular-identification-of-tick-borne-pathogens-in-asymptomatic-individuals-with-human-immunodeficiency-virus-type-1-hiv-1-infection-a-retrospective-study
#15
Renata Welc-Falęciak, Justyna D Kowalska, Małgorzata Bednarska, Magdalena Szatan, Agnieszka Pawełczyk
BACKGROUND: The studies on the occurrence and diversity of tick-borne infections in HIV-infected individuals have been few, and the subject has been relatively neglected when compared with other common infections associated with HIV. In HIV-positive patients in whom a serological diagnostics is complicated due to reduced positive predictive value, a method where the microorganism is detected directly is of great value. Therefore, we performed a molecular study to ascertain the prevalence and incidence of tick-borne infections in HIV-infected persons in Poland, an endemic area for Ixodes ricinus ticks...
May 18, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29776391/the-clinical-implications-of-g1-g6-transcriptomic-signature-and-5-gene-score-in-korean-patients-with-hepatocellular-carcinoma
#16
Sung-Min Ahn, Farhan Haq, Inkeun Park, Jean-Charles Nault, Jessica Zucman-Rossi, Eunsil Yu
BACKGROUND: Efforts have been made to classify Hepatocellular Carcinoma (HCC) at surgically curable stages because molecular classification, which is prognostically informative, can accurately identify patients in need of additional early therapeutic interventions. Recently, HCC classification based French studies on the expression of 16 genes and 5 genes were proposed. In 16-gene classification, transcriptomic signatures (G1-G6) were used to classify HCC patients into clinical, genomic and pathway-specific subgroups...
May 18, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29775997/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants
#17
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen-2) and ensemble methods (REVEL, BayesDel). Reference sets of assumed pathogenic and assumed benign variants were defined using functional and/or clinical data...
May 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/29775789/e-coli-encoding-blandm-5-associated-with-community-acquired-uti-cases-with-unusual-mic-creep-like-phenomenon-against-imipenem
#18
Varsha Rani Gajamer, Amitabha Bhattacharjee, Deepjyoti Paul, Chandrayee Deshamukhya, Ashish Kr Singh, Nilu Pradhan, Hare Krishna Tiwari
OBJECTIVES: Carbapenemase-producing Escherichia coli are of major clinical concern. The present study aimed to identify NDM-5 producing E.coli associated with community-acquired urinary tract infection, co-harboring ESBL genes and a pattern of imipenem MIC creep. METHODS: A total of 973 urine samples were collected from females of age between 18-49 diagnosed with UTI. Isolates were identified by standard microbiological procedures. Presence of blaNDM and ESBL genes was determined by PCR assay and sequencing...
May 15, 2018: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/29775203/optimal-two-stage-dynamic-treatment-regimes-from-a-classification-perspective-with-censored-survival-data
#19
Rebecca Hager, Anastasios A Tsiatis, Marie Davidian
Clinicians often make multiple treatment decisions at key points over the course of a patient's disease. A dynamic treatment regime is a sequence of decision rules, each mapping a patient's observed history to the set of available, feasible treatment options at each decision point, and thus formalizes this process. An optimal regime is one leading to the most beneficial outcome on average if used to select treatment for the patient population. We propose a method for estimation of an optimal regime involving two decision points when the outcome of interest is a censored survival time, which is based on maximizing a locally efficient, doubly robust, augmented inverse probability weighted estimator for average outcome over a class of regimes...
May 18, 2018: Biometrics
https://www.readbyqxmd.com/read/29775012/-the-clinical-value-of-china-savin-pollen-extract-used-for-skin-prick-test
#20
Kai Guan, J X Zhou, R Q Wang, J Yin, L L Wang, Y X Zhi, J L Sun, H Li, L P Wen, J Q Gu, R Tang, Z X Wang, L S Li, T Xu
Objective: The aim of this study is to evaluate the effectiveness and safety of China Savin pollen extract which was used for skin prick test (SPT) in the diagnosis of China Savin pollen allergy. Method: Patients with diagnosis of allergic diseases were collected from Allergy Department of Peking Union Medical College Hospital. All patients were given SPT with China Savin pollen extract, and the mean wheal diameter (MWD) was measured after 15 minutes. Receiver operating characteristic curve (ROC) analysis was performed based on the results of serum specific immunoglobulin E (sIgE)...
February 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
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