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https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#1
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27896715/genome-sequencing
#2
Mansi Verma, Samarth Kulshrestha, Ayush Puri
Genome sequencing is an important step toward correlating genotypes with phenotypic characters. Sequencing technologies are important in many fields in the life sciences, including functional genomics, transcriptomics, oncology, evolutionary biology, forensic sciences, and many more. The era of sequencing has been divided into three generations. First generation sequencing involved sequencing by synthesis (Sanger sequencing) and sequencing by cleavage (Maxam-Gilbert sequencing). Sanger sequencing led to the completion of various genome sequences (including human) and provided the foundation for development of other sequencing technologies...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27884767/eif2ak4-mutations-in-patients-diagnosed-with-pulmonary-arterial-hypertension
#3
D Hunter Best, Kelli L Sumner, Benjamin P Smith, Kristy Damjanovich-Colmenares, Ikue Nakayama, Lynette M Brown, Youna Ha, Eleri Paul, Ashley Morris, Mohamed A Jama, Mark W Dodson, Pinar Bayrak-Toydemir, C Gregory Elliott
BACKGROUND: Differentiating pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) from idiopathic or heritable pulmonary arterial hypertension (IPAH and HPAH) is important clinically. Mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) cause heritable PVOD and PCH whereas mutations in other genes cause HPAH. The aim of this study is to describe the frequency of pathogenic EIF2AK4 mutations in patients diagnosed clinically with IPAH or HPAH...
November 21, 2016: Chest
https://www.readbyqxmd.com/read/27860162/desmoplastic-infantile-astrocytoma-ganglioglioma-with-rare-braf-v600d-mutation
#4
Ashley Greer, Nicholas K Foreman, Andrew Donson, Kurtis D Davies, B K Kleinschmidt-DeMasters
BACKGROUND: Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile gangliogliomas (DIGs) are rare, massive, cystic and solid tumors of infants usually found in superficial cerebral hemispheres. They manifest prominent desmoplastic stroma, admixed neoplastic astrocytes, primitive-appearing small cells, and additional neoplastic ganglion cells in the case of DIGs. While v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutation is found in up to 50% of pediatric gangliogliomas, two recent studies found that it was rare in DIA/DIGs; we sought to assess BRAF status in DIA/DIGs from our institution...
November 10, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27818211/deep-sequencing-for-hiv-1-clinical-management
#5
REVIEW
Maria Casadellà, Roger Paredes
The emerging HIV-1 resistance epidemic is threatening the impressive global advances in HIV-1 infection treatment and prevention achieved in the last decade. Next-generation sequencing is improving our ability to understand, diagnose and prevent HIV-1 resistance, being increasingly cost-effective and more accessible. However, NGS still faces a number of limitations that need to be addressed to enable its widespread use. Here, we will review the main NGS platforms available for HIV-1 diagnosis, the factors affecting the clinical utility of NGS testing and the evidence supporting -or not- ultrasensitive genotyping over Sanger sequencing for routine HIV-1 diagnosis...
November 3, 2016: Virus Research
https://www.readbyqxmd.com/read/27772781/congenital-insensitivity-to-pain-with-anhidrosis-a-report-of-two-siblings-with-a-novel-mutation-in-trka-ntrk1-gene-in-a-saudi-family
#6
Hussein Algahtani, Muhammad Imran Naseer, Mohammad Al-Qahtani, Shireen Abubakr Abdulrahman, Faisal Boker, Bader Shirah
Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27748892/rgr-variants-in-different-forms-of-retinal-diseases-the-undetermined-role-of-truncation-mutations
#7
Jiali Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang
It has been previously reported that mutations in retinal G protein coupled receptor (RGR) are associated with retinitis pigmentosa. The present study aims to systemically analyze the potential role of variants of RGR in retinal diseases. Variants in coding regions and splice sites of RGR were selected from a whole exome sequencing dataset of 820 probands with various forms of genetic ocular diseases. Potential variants of RGR were further confirmed by Sanger sequencing and analyzed in available family members...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27746223/diagnosing-surgical-site-infection-using-wound-photography-a-scenario-based-study
#8
Patrick C Sanger, Vlad V Simianu, Cameron E Gaskill, Cheryl Al Armstrong, Andrea L Hartzler, Ross J Lordon, William B Lober, Heather L Evans
BACKGROUND: Postoperative surgical site infections (SSI) are common and costly. Most occur post-discharge, and may result in potentially preventable readmission and/or unnecessary urgent evaluation. Mobile health approaches incorporating patient-generated wound photos are being implemented in an attempt to optimize triage and management. We assessed how adding wound photos to existing data sources modifies provider decision-making. STUDY DESIGN: Web-based simulation survey using convenience sample of providers with expertise in surgical infections...
October 13, 2016: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/27736898/hiv-drug-resistance-in-antiretroviral-treatment-na%C3%A3-ve-individuals-in-the-largest-public-hospital-in-nicaragua-2011-2015
#9
Santiago Avila-Ríos, Claudia García-Morales, Margarita Matías-Florentino, Daniela Tapia-Trejo, Bismarck F Hernández-Álvarez, Sumaya E Moreira-López, Carlos J Quant-Durán, Guillermo Porras-Cortés, Gustavo Reyes-Terán
BACKGROUND: Increasing HIV pre-treatment drug resistance (PDR) levels have been observed in regions with increasing antiretroviral treatment (ART) coverage. However, data is lacking for several low/middle-income countries. We present the first PDR survey in Nicaragua since ART introduction in the country in 2003. METHODS: HIV-infected, ART-naïve Nicaraguan individuals were enrolled at Roberto Calderón Hospital, the largest national HIV referral center, from 2011 to 2015...
2016: PloS One
https://www.readbyqxmd.com/read/27694238/phylogenetic-evidence-for-ancient-and-persistent-environmental-symbiont-reacquisition-in-largidae-hemiptera-heteroptera
#10
Eric Robert Lucien Gordon, Quinn McFrederick, Christiane Weirauch
: The insect order Hemiptera, one of the best-studied insect lineages with respect to bacterial symbioses, still contains major branches that lack comprehensive characterization of associated bacterial symbionts. The Pyrrhocoroidea (Largidae [220 species] and Pyrrhocoridae [∼300 species]) is a clade of the hemipteran infraorder Pentatomomorpha. Studies on bacterial symbionts of this group have focused on members of Pyrrhocoridae, but recent examination of species of two genera of Largidae demonstrated divergent symbiotic complexes in these putative sister families...
December 15, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27679472/discontinuing-colchicine-in-symptomatic-carriers-for-mefv-mediterranean-fever-variants
#11
Hafize Emine Sönmez, Ezgi Deniz Batu, Yelda Bilginer, Seza Özen
Familial Mediterranean fever (FMF) is inherited autosomal recessively; however, heterozygotes may express FMF phenotype. We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up. We reviewed the charts of 182 children who were heterozygous for MEFV variants. We excluded the patients (n = 34) heterozygous for MEFV variants of unknown significance and patients with typical periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (n = 2)...
September 27, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27666509/a-novel-missense-mutation-in-the-nadph-binding-domain-of-cybb-abolishes-the-nadph-oxidase-activity-in-a-male-patient-with-increased-susceptibility-to-infections
#12
Taj Ali Khan, Kalsoom Kalsoom, Asif Iqbal, Huma Asif, Hazir Rahman, Syed Omar Farooq, Hassan Naveed, Umar Nasir, Muhammad Usman Amin, Mubashir Hussain, Hamid Nawaz Tipu, Andrei Florea
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the five structural genes (CYBB, CYBA, NCF1, NCF2, and NCF4) that typically results in a decrease in function or inability to generate a respiratory burst, leading to defective killing of pathogens, including fungi and intracellular bacteria. Mutations in CYBB, encoding the gp91phox (also known as NOX2) result in X-linked CGD account for approximately 65% of CGD cases. Here, we aimed the characterization of a novel missense mutation c...
September 23, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27663151/novel-mbtps2-missense-mutation-causes-a-keratosis-follicularis-spinulosa-decalvans-phenotype-mutation-update-and-review-of-the-literature
#13
J Zhang, Y Wang, R Cheng, C Ni, J Liang, M Li, Z Yao
Keratosis follicularis spinulosa decalvans (KFSD) is an X-linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS2 gene. We carried out a genetic study on a child who was suspected clinically to have KFSD. Sanger sequencing was performed to detect mutations in the entire coding region of MBTPS2. A novel missense mutation (c.599C>T) was identified in the patient, confirming a diagnosis of KFSD. We reviewed related cases with MBTPS2 mutations for evidence of genotype-phenotype correlations...
October 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27650058/an-application-of-ngs-for-molecular-investigations-in-perrault-syndrome-study-of-14-families-and-review-of-the-literature
#14
Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin-Maitre, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Eréa-Nöel Garabedian, Jean-Paul Bonnefont, Philippe Touraine, Isabelle Mosnier, Arnold Munnich, Françoise Denoyelle, Sandrine Marlin
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis. DNA was sequenced using next-generation sequencing (NGS) with a panel of 35 deafness genes including the five Perrault genes. Exonic variations known as pathogenic mutations or detected with <1% frequency in public databases were extracted and subjected to segregation analysis within each family...
December 2016: Human Mutation
https://www.readbyqxmd.com/read/27641156/building-strong-relationships-between-conservation-genetics-and-primary-industry-leads-to-mutually-beneficial-genomic-advances
#15
Stephanie J Galla, Thomas R Buckley, Rob Elshire, Marie L Hale, Michael Knapp, John McCallum, Roger Moraga, Anna W Santure, Phillip Wilcox, Tammy E Steeves
Several reviews in the past decade have heralded the benefits of embracing high-throughput sequencing technologies to inform conservation policy and the management of threatened species, but few have offered practical advice on how to expedite the transition from conservation genetics to conservation genomics. Here, we argue that an effective and efficient way to navigate this transition is to capitalize on emerging synergies between conservation genetics and primary industry (e.g., agriculture, fisheries, forestry and horticulture)...
September 18, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27631024/pik3ca-associated-developmental-disorders-exhibit-distinct-classes-of-mutations-with-variable-expression-and-tissue-distribution
#16
Ghayda Mirzaa, Andrew E Timms, Valerio Conti, Evan August Boyle, Katta M Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Stephen Braddock, Leah Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna Saitta, Rachel Straussberg, Michael Gabbett, Bridget C O'Connor, Catherine E Keegan, Lim Jiin Yin, Angeline Hwei Meeng Lai, Nicole Martin, Margaret McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E Schwartz, Agustina Lanoel, Robert L Conway, Koenraad Devriendt, Katrina Tatton-Brown, Mary Ella Pierpont, Michael Painter, Lisa Worgan, James Reggin, Raoul Hennekam, Karen Tsuchiya, Colin C Pritchard, Mariana Aracena, Karen W Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia Curry, Anne Goriely, Hulya Kayserilli, Jay Shendure, John Graham, Renzo Guerrini, William B Dobyns
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified PIK3CA mutations in 60 individuals...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27629094/sigmar1-mutation-associated-with-autosomal-recessive-silver-like-syndrome
#17
Alejandro Horga, Pedro J Tomaselli, Michael A Gonzalez, Matilde Laurà, Francesco Muntoni, Adnan Y Manzur, Michael G Hanna, Julian C Blake, Henry Houlden, Stephan Züchner, Mary M Reilly
OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. METHODS: We used whole-exome sequencing to investigate the proband. The variants of interest were investigated for segregation in the family using Sanger sequencing...
October 11, 2016: Neurology
https://www.readbyqxmd.com/read/27602491/erbb2-mutations-associated-with-solid-variant-of-high-grade-invasive-lobular-breast-carcinomas
#18
Gabrielle Deniziaut, Jean Christophe Tille, François-Clément Bidard, Sophie Vacher, Anne Schnitzler, Walid Chemlali, Laurence Trémoulet, Laetitia Fuhrmann, Paul Cottu, Roman Rouzier, Ivan Bièche, Anne Vincent-Salomon
ERBB2 and ERBB3 somatic gain-of-function mutations, which may be targeted by anti-ERBB2 therapies, were reported by high-throughput sequencing studies in 1% and 2% of invasive breast cancers respectively. Our study aims to determine ERBB2 and ERBB3 mutations frequencies in grade 3 and/or ERBB2-positive invasive lobular breast carcinomas (ILC). All the 529 ILC surgically-excised registered at Institut Curie in the years 2005 to 2008 were reviewed. Thirty-nine grade 3 ERBB2-negative ILC and 16 ERBB2-positive ILC were retrieved and subjected to Sanger sequencing of the ERBB2 and ERBB3 activation mutation hotspots (ERBB2: exons 8, 17, 19, 20, 21; ERBB3: exons 3, 6, 7, 8)...
September 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27583304/mme-mutation-in-dominant-spinocerebellar-ataxia-with-neuropathy-sca43
#19
Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo
OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individuals, whose clinical records were reviewed by a neurologist experienced in ataxia. We combined linkage data of 21 family members with whole exome sequencing in 2 affected individuals to identify shared heterozygous variants mapping to potentially linked regions...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27578137/type-1-hyperlipoproteinemia-in-a-child-with-large-homozygous-deletion-encompassing-gpihbp1
#20
Nivedita Patni, Julie Brothers, Chao Xing, Abhimanyu Garg
Type I hyperlipoproteinemia (T1HLP) usually presents with extreme hypertriglyceridemia, recurrent episodes of acute pancreatitis, lipemia retinalis, and cutaneous eruptive xanthomas. We report a unique 10-year-old male of Indian origin who presented in neonatal period with transient obstructive jaundice and xanthomas in the pancreas and kidneys. Serum triglycerides stabilized with extremely low-fat diet although he subsequently developed pancreatic atrophy. Extreme hypertriglyceridemia failed to respond to treatment with fenofibrate, fish oil, and orlistat...
July 2016: Journal of Clinical Lipidology
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