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https://www.readbyqxmd.com/read/28105149/t-14-18-q32-q21-in-chronic-lymphocytic-leukemia-patients-report-of-two-cases-and-a-literature-review
#1
Weifeng Chen, Yi Miao, Rong Wang, Yujie Wu, Hairong Qiu, Wei Xu, Jianyong Li, Lei Fan, Xin Xu
The chromosomal abnormality t(14;18)(q32;q21) is most commonly associated with germinal center-derived B-cell lymphomas, particularly follicular lymphoma (FL). Generally, it is considered a hallmark of FL. The t(14;18)(q32;q21) translocation is rare in chronic lymphocytic leukemia (CLL) and its prognostic significance remains unclear. In the present study, two cases of CLL with t(14;18)(q32;q21) were diagnosed using conventional cytogenetic analysis and fluorescence in situ hybridization. Both patients presented with leukemia and the morphological features and immunophenotypes were typical of CLL...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#2
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28100407/pressure-ulcer-reconstruction-in-patients-with-heterotopic-ossification-after-spinal-cord-injury-a-case-series-and-review-of-literature
#3
REVIEW
Kai Yang, Alexander Graf, James Sanger
Heterotopic ossification (HO) is widely recognized as a common occurrence among patients suffering from traumatic spinal cord injuries (SCI). The exact etiology of HO formation remains unknown. Published medical and surgical management strategies are often plagued with questionable effectiveness and frequent complications. There are minimal publications regarding the management strategies of HO in SCI patients as it pertains to plastic surgery. We present a case series of patients treated at our institution who underwent treatment for pressure ulcers with underlying HO to highlight the vast spectrum of clinical phenotypes present in this population...
December 21, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28092281/renal-tubular-acidosis
#4
Fernando Santos, Helena Gil-Peña, Silvia Alvarez-Alvarez
PURPOSE OF REVIEW: To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical characteristics of this group of diseases, by updating the genetic and molecular bases of the primary forms renal tubular acidosis and by examining some issues regarding the diagnosis of distal renal tubular acidosis (RTA) in the daily clinical practice. RECENT FINDINGS: The manuscript presents recent findings on the potential of next-generation sequencing to disclose new pathogenic variants in patients with a clinical diagnosis of primary RTA and negative Sanger sequencing of known genes...
January 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28065771/risk-factors-for-30-day-readmission-in-adults-with-sickle-cell-disease
#5
Max A Brodsky, Mark Rodeghier, Maureen Sanger, Jeannie Byrd, Brandi McClain, Brittany Covert, Dionna O Roberts, Karina Wilkerson, Michael R DeBaun, Adetola A Kassim
BACKGROUND: Readmission to the hospital within 30-days is a measure of quality care; however, only few modifiable risk factors for 30-day readmission in adults with sickle cell disease are known. METHODS: We performed a retrospective review of the medical records of adults with sickle cell disease at a tertiary care center, to identify potentially modifiable risk factors for 30-day re-admission due to vaso-occulsive pain episodes. A total of 88 patients > 18 years of age were followed for 3...
January 5, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28063898/the-association-of-the-rnf213-p-r4810k-polymorphism-with-quasi-moyamoya-disease-and-a-review-of-the-pertinent-literature
#6
Qian Zhang, Yaping Liu, Lebao Yu, Ran Duan, Yonggang Ma, Peicong Ge, Dong Zhang, Yan Zhang, Rong Wang, Shuo Wang, Yuanli Zhao, Yong Cao, Xingju Liu, Xiaofeng Deng, Jizong Zhao, Xue Zhang
BACKGROUND: Quasi-moyamoya disease (MMD) is characterized by moyamoya vasculopathy and well recognized comorbidity. Whether the recently identified MMD susceptibility gene variant, p.R4810K (rs112735431), is associated with quasi-MMD remains unclear. METHODS: This study was a 2-hospital-based case-control study that was conducted in the neurosurgical departments of Beijing Tiantan Hospital and Peking University International Hospital. A total of 42 patients and 161 controls were enrolled...
January 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27977834/high-resolution-adaptive-optics-retinal-image-analysis-at-early-stage-central-areolar-choroidal-dystrophy-with-prph2-mutation
#7
Kiyoko Gocho, Keiichiro Akeo, Naoko Itoh, Shuhei Kameya, Takaaki Hayashi, Satoshi Katagiri, Tamaki Gekka, Yasuhiro Ohkuma, Hiroshi Tsuneoka, Hiroshi Takahashi
BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD). PATIENTS AND METHODS: Five family members had comprehensive ophthalmic examinations including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the institutional review board of The Jikei University School of Medicine...
December 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27973417/applications-of-high-throughput-sequencing-for-in-vitro-selection-and-characterization-of-aptamers
#8
REVIEW
Nam Nguyen Quang, Gérald Perret, Frédéric Ducongé
Aptamers are identified through an iterative process of evolutionary selection starting from a random pool containing billions of sequences. Simultaneously to the amplification of high-affinity candidates, the diversity in the pool is exponentially reduced after several rounds of in vitro selection. Until now, cloning and Sanger sequencing of about 100 sequences was usually used to identify the enriched candidates. However, High-Throughput Sequencing (HTS) is now extensively used to replace such low throughput sequencing approaches...
December 10, 2016: Pharmaceuticals
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#9
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...
February 2017: Neurological Research
https://www.readbyqxmd.com/read/27896715/genome-sequencing
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
Patrick C Sanger, Vlad V Simianu, Cameron E Gaskill, Cheryl A L 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 can result in potentially preventable readmission 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: We used a web-based simulation survey using a convenience sample of providers with expertise in surgical infections...
January 2017: 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
#17
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
#18
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
#19
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
#20
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...
November 2016: Microbial Pathogenesis
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