keyword
MENU ▼
Read by QxMD icon Read
search

Sanger review

keyword
https://www.readbyqxmd.com/read/28807047/adverse-outcomes-associated-with-opioid-prescription-for-acute-low-back-pain-a-systematic-review-protocol
#1
Natalia Mouravska, Laura Zielinski, Meha Bhatt, Nitika Sanger, Monica Bawor, Brittany Dennis, Laura Banfield, James MacKillop, James Paul, Andrew Worster, Philip Laplante, Lehana Thabane, Zainab Samaan
BACKGROUND: Acute low back pain (ALBP) is the top cause of global disability, demonstrating a significant impact on individuals and society and demanding the need for appropriate management. There is a trend towards an increasing number of opioid prescriptions for ALBP despite the lack of investigation for its various short- and long-term outcomes. The objective of this review is to examine adverse outcomes associated with opioid use for ALBP. METHODS/DESIGN: Using a search strategy, the search will be conducted using the following electronic databases: PubMed/MEDLINE, EMBASE, PsycINFO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Science, Cochrane Library, the National Institutes for Health Clinical Trials Registry and the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP)...
August 14, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28780987/clinical-and-histologic%C3%A2-findings-in-acta1-related-nemaline-myopathy-case-series-and-review-of-the-literature
#2
REVIEW
Cristiane de Araújo Martins Moreno, Osório Abath Neto, Sandra Donkervoort, Ying Hu, Umbertina Conti Reed, Acary Sousa Bulle Oliveira, Carsten Bönnemann, Edmar Zanoteli
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. Nemaline myopathy is genetically and phenotypically heterogeneous and, so far, mutations in 11 different genes have been associated with this disease. Dominant mutations in ACTA1 are the second most frequent genetic cause of nemaline myopathy and can lead to a variety of clinical and histologic phenotypes...
April 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28771233/impact-of-germline-and-somatic-brca1-2-mutations-tumor-spectrum-and-detection-platforms
#3
REVIEW
H Wu, X Wu, Z Liang
The BRCA1/2 genes are long and complex and mutation carriers are at risk of developing malignancies, mainly of gynecological origin. Various mutations arise in these genes and their characterization is a time consuming, cost intensive, complicated process. Tumors of BRCA1/2 origin have distinct molecular and histological features that can impact responses to therapy. Therefore, detection of these mutations constitutes an important step in the risk assessment, prevention strategy and treatment of subjects. Although Sanger sequencing is the gold standard for the detection of genetic mutations, several next generation sequencing-based high throughput platforms have been developed and adapted for the detection of BRCA1/2 mutations...
August 3, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28759525/ultrasound-and-pet-ct-correlation-in-shoulder-pathology-a-5-year-retrospective-analysis
#4
Christopher J Burke, William R Walter, Ronald S Adler, James S Babb, Joseph Sanger, Fabio Ponzo
PURPOSE: To correlate shoulder ultrasound and radiography with F-FDG PET-CT to establish FDG uptake and therefore range of metabolic activity, as defined by SUV analysis, in various symptomatic shoulder pathologies. METHODS: Retrospective database query was performed for shoulder ultrasound and PET-CT scans between January 2012 and January 2017. Patients who had both studies within 1 year were included. Age- and sex-matched control patients with PET-CT scans only were also included...
July 29, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28748388/pls3-sequencing-in-childhood-onset-primary-osteoporosis-identifies-two-novel-disease-causing-variants
#5
A J Kämpe, A Costantini, R E Mäkitie, N Jäntti, H Valta, M Mäyränpää, H Kröger, M Pekkinen, F Taylan, H Jiao, O Mäkitie
Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. INTRODUCTION: The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features...
July 26, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#6
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28699202/ductal-adenocarcinoma-of-the-prostate-clinical-and-biological-profiles
#7
Armelle Vinceneux, Franck Bruyère, Olivier Haillot, Thomas Charles, Alexandre de la Taille, Laurent Salomon, Yves Allory, Idir Ouzaid, Laurence Choudat, Morgan Rouprêt, Eva Comperat, Nadine Houede, Jean-Baptiste Beauval, Patrick Vourc'h, Gaëlle Fromont
BACKGROUND: Ductal adenocarcinoma (DAC) is a rare and aggressive subtype of prostate cancer (PCa). In the present study, we analyzed the clinical and biological characteristics of DAC, in comparison with high grade conventional acinar PCa. METHODS: Samples and data were retrospectively collected from seven institutions and centrally reviewed. Immunohistochemistry was performed on tissue microarrays to assess the expression of candidate proteins, based on the molecular classification of PCa, including ERG, PTEN, and SPINK1...
July 12, 2017: Prostate
https://www.readbyqxmd.com/read/28694206/identification-of-two-novel-sh3pxd2b-gene-mutations-in-frank-ter-haar-syndrome-by-exome-sequencing-case-report-and-review-of-the-literature
#8
Abdelali Zrhidri, Imane Cherkaoui Jaouad, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said E L Mouatassim, Abdelaziz Sefiani
BACKGROUND: Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. The most common underlying genetic defect in Frank-Ter Haar syndrome appears to be due to mutations in the SH3PXD2B gene on chromosome 5q35.1. Until now, only six mutations in SH3PXD2B gene have been identified. A genetic heterogeneity of FTHS was suggested in previous studies...
July 7, 2017: Gene
https://www.readbyqxmd.com/read/28652772/epidermal-growth-factor-receptor-exon-20-mutation-in-lung-cancer-types-incidence-clinical-features-and-impact-on-treatment
#9
Vanita Noronha, Anuradha Choughule, Vijay M Patil, Amit Joshi, Rajiv Kumar, Deepa Susan Joy Philip, Shripad Banavali, Amit Dutt, Kumar Prabhash
BACKGROUND: There are limited data available on the treatment and outcome of epidermal growth factor receptor (EGFR) exon 20-mutated lung cancer patients. Hence, we planned an analysis of the demographic details, clinical profile and survival of lung cancer patients with exon 20 mutations. We compared our results to patients with EGFR tyrosine kinase inhibitor (TKI)-sensitizing activating and EGFR/anaplastic lymphoma kinase (ALK)-negative mutations. METHODS: This was a retrospective analysis of lung cancer patients who were treated at our center between January 2010 and August 2014...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#10
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28623566/clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-patients-in-chinese-families
#11
Chen Chen, Yue Zhang, Hui Wu, Yi-Min Sun, Ye-Hua Cai, Jian-Jun Wu, Jian Wang, Ling-Yun Gong, Zheng-Tong Ding
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c...
June 17, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28618409/identification-of-8-novel-mutations-in-nephrogenesis-related-genes-in-chinese-han-patients-with-unilateral-renal-agenesis
#12
Hangdi Wu, Qian Xu, Jingyuan Xie, Jun Ma, Panpan Qiao, Wen Zhang, Haijin Yu, Weiming Wang, Ying Qian, Qianying Zhang, Yiqing Guo, Yonghua Tang, Xiao-Nong Chen, Zhaohui Wang, Nan Chen
BACKGROUND: Few genetic studies have focused on unilateral renal agenesis (URA), which is a disorder with insidious clinical manifestations and a tendency to result in renal failure. We aimed to detect pathogenic mutations in nephrogenesis-related genes, which were identified by a literature review conducted among a large cohort of Chinese Han patients with URA. METHODS: Totally, 86 unrelated URA patients were included. All URA patients were diagnosed by employing radiological methods...
2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28604951/-analysis-of-foxl2-gene-mutations-in-5-families-affected-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
#13
Xiaowen Yang, Wen Li, Juan Du, Shimin Yuan, Wenbin He, Qianjun Zhang, Changgao Zhong, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28595730/recurrent-large-genomic-rearrangements-in-brca1-and-brca2-in-an-irish-case-series
#14
Terri P McVeigh, Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green
Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Comprehensive mutation testing using these two methods has been facilitated via our centre since 2005...
August 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28587904/evaluation-of-a-novel-line-probe-assay-to-detect-resistance-to-pyrazinamide-a-key-drug-used-for-tuberculosis-treatment
#15
M Driesen, Y Kondo, B C de Jong, G Torrea, S Asnong, C Desmaretz, K S M Mostofa, S Tahseen, M G Whitfield, D M Cirillo, P Miotto, A M Cabibbe, L Rigouts
OBJECTIVES: The development of rapid molecular diagnostic assays for pyrazinamide (PZA) resistance is considered technically challenging as mutations are highly diverse, scattered along the full length of the pncA gene and not all are associated with PZA resistance. We evaluated the performance of the novel Genoscholar PZA-TB II line probe assay (PZA-LPA2; NIPRO Corporation, Japan). METHODS: To evaluate the applicability of the PZA-LPA2 in clinical settings, we compared the performance of the PZA-LPA2 to a composite reference standard pncA Sanger and Illumina sequencing plus phenotypic susceptibility testing on a panel of 87 Mycobacterium tuberculosis isolates from World Health Organization (WHO) drug resistance surveys, harbouring mutations previously classified as associated or not associated with resistance according to data from peer-reviewed literature...
June 3, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28584208/establishment-of-a-novel-method-for-screening-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitor-resistance-mutations-in-lung-cancer
#16
Hong-Xia Tian, Xu-Chao Zhang, Zhen Wang, Jin-Ji Yang, Wei-Bang Guo, Zhi-Hong Chen, Yi-Long Wu
BACKGROUND: Drug resistance to targeted therapies occurs in lung cancer, and resistance mechanisms related to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are continuously being discovered. We aimed to establish a novel method for highly parallel multiplexed detection of genetic mutations related to EGFR TKI-resistant lung cancer using Agena iPLEX chemistry and matrix-assisted laser desorption ionization time-of-flight analysis on the MassARRAY mass spectrometry platform...
June 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28583442/evolution-of-selective-sequencing-approaches-for-virus-discovery-and-virome-analysis
#17
REVIEW
Arvind Kumar, Satyapramod Murthy, Amit Kapoor
Recent advances in sequencing technologies have transformed the field of virus discovery and virome analysis. Once mostly confined to the traditional Sanger sequencing based individual virus discovery, is now entirely replaced by high throughput sequencing (HTS) based virus metagenomics that can be used to characterize the nature and composition of entire viromes. To better harness the potential of HTS for the study of viromes, sample preparation methodologies use different approaches to exclude amplification of non-viral components that can overshadow low-titer viruses...
June 3, 2017: Virus Research
https://www.readbyqxmd.com/read/28577957/egfr-t790m-mutation-testing-within-the-osimertinib-aura-phase-i-study
#18
Simon Dearden, Helen Brown, Suzanne Jenkins, Kenneth S Thress, Mireille Cantarini, Rebecca Cole, Malcolm Ranson, Pasi A Jänne
OBJECTIVES: Reliable epidermal growth factor receptor (EGFR) mutation testing techniques are required to identify eligible patients with EGFR mutation/T790M positive advanced non-small cell lung cancer (NSCLC), for treatment with osimertinib (AZD9291), an oral, potent, irreversible EGFR tyrosine kinase inhibitor (TKI) selective for EGFR-TKI-sensitizing and T790M resistance mutations over wild-type EGFR. There is no current consensus regarding the best method to detect EGFR T790M mutations...
July 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28575112/molecular-epidemiology-of-staphylococcus-aureus-bacteremia-in-a-single-large-minnesota-medical-center-in-2015-as-assessed-using-mlst-core-genome-mlst-and-spa-typing
#19
Kyung-Hwa Park, Kerryl E Greenwood-Quaintance, James R Uhl, Scott A Cunningham, Nicholas Chia, Patricio R Jeraldo, Priya Sampathkumar, Heidi Nelson, Robin Patel
Staphylococcus aureus is a leading cause of bacteremia in hospitalized patients. Whether or not S. aureus bacteremia (SAB) is associated with clonality, implicating potential nosocomial transmission, has not, however, been investigated. Herein, we examined the epidemiology of SAB using whole genome sequencing (WGS). 152 SAB isolates collected over the course of 2015 at a single large Minnesota medical center were studied. Staphylococcus protein A (spa) typing was performed by PCR/Sanger sequencing; multilocus sequence typing (MLST) and core genome MLST (cgMLST) were determined by WGS...
2017: PloS One
https://www.readbyqxmd.com/read/28557526/molecular-profiling-of-malignant-pleural-effusion-in-metastatic-non-small-cell-lung-carcinoma-the-effect-of-preanalytical-factors
#20
Jamal Carter, James Adam Miller, David Feller-Kopman, David Ettinger, David Sidransky, Zahra Maleki
RATIONALE: Non-small-cell lung cancer (NSCLC)-associated malignant pleural effusions (MPEs) are sometimes the only available specimens for molecular analysis. OBJECTIVES: This study evaluates diagnostic yield of NSCLC-associated MPE, its adequacy for molecular profiling and the potential influence of MPE volume/cellularity on the analytic sensitivity of our assays. METHODS: Molecular results of 50 NSCLC-associated MPE cases during a 5-year period were evaluated...
July 2017: Annals of the American Thoracic Society
keyword
keyword
26534
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"