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https://www.readbyqxmd.com/read/29120072/rasa1-mutation-in-a-family-with-capillary-malformation-arteriovenous-malformation-syndrome-a-discussion-of-the-differential-diagnosis
#1
Lisa R Edwards, Adam B Blechman, Barrett J Zlotoff
We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis...
November 9, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29078688/endoscopic-mucosal-ablation-and-resection-of-barrett-s-esophagus-and-related-diseases
#2
REVIEW
Juan A Muñoz-Largacha, Virginia R Litle
The prevalence of gastroesophageal reflux disease as well as the incidence of Barrett's esophagus (BE) has increased in the Western world over the last decades. The chronic reflux of gastric secretions injuries the esophageal mucosa and triggers cellular and molecular changes inducing the transformation of the normal squamous mucosa into columnar metaplastic epithelium. BE is a premalignant condition that can progress to low-grade dysplasia, high-grade dysplasia and ultimately esophageal adenocarcinoma. An early diagnosis of dysplastic changes and the adoption of appropriate therapeutic approaches are essential to improve patient outcomes and survival...
2017: J Vis Surg
https://www.readbyqxmd.com/read/29066320/detection-of-genetic-alterations-in-cfdna-as-a-possible-strategy-to-monitor-the-neoplastic-progression-of-barrett-s-esophagus
#3
Enrica Rumiato, Elisa Boldrin, Sandro Malacrida, Stefano Realdon, Matteo Fassan, Tiziana Morbin, Giorgio Battaglia, Alberto Amadori, Massimo Rugge, Daniela Saggioro
Barrett's esophagus (BE) is associated with an increased risk of developing esophageal adenocarcinoma. Despite the low absolute risk of neoplastic progression of BE, probability increases with the diagnosis of dysplasia. For this reason, BE patients undergo an endoscopy-based surveillance that is, however, burdensome for patients, subject to inter-observer subjectivity, and expensive for national health systems. Thus, less invasive and low-cost diagnostic tools are needed. This study is aimed at finding a simple and reliable method to detect the circulating cell-free DNA (cfDNA) in BE patients as evidence of the molecular instability that accompanies BE carcinogenesis...
October 6, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29058589/translational-evidence-for-two-distinct-patterns-of-neuroaxonal-injury-in-sepsis-a-longitudinal-prospective-translational-study
#4
Johannes Ehler, Lucinda K Barrett, Valerie Taylor, Michael Groves, Francesco Scaravilli, Matthias Wittstock, Stephan Kolbaske, Annette Grossmann, Jörg Henschel, Martin Gloger, Tarek Sharshar, Fabrice Chretien, Francoise Gray, Gabriele Nöldge-Schomburg, Mervyn Singer, Martin Sauer, Axel Petzold
BACKGROUND: Brain homeostasis deteriorates in sepsis, giving rise to a mostly reversible sepsis-associated encephalopathy (SAE). Some survivors experience chronic cognitive dysfunction thought to be caused by permanent brain injury. In this study, we investigated neuroaxonal pathology in sepsis. METHODS: We conducted a longitudinal, prospective translational study involving (1) experimental sepsis in an animal model; (2) postmortem studies of brain from patients with sepsis; and (3) a prospective, longitudinal human sepsis cohort study at university laboratory and intensive care units (ICUs)...
October 23, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29037925/radiographic-union-scoring-scale-for-determining-consolidation-rates-in-the-calcaneus
#5
Michael L Sganga, N Jake Summers, Brandon Barrett, Michael Matthews, Timothy Karthas, Lindsay Johnson, Jeremy J Cook, Philip Basile, Emily A Cook
The reliable evaluation of osseous consolidation after hindfoot osteotomy can be difficult. Concomitant hindfoot osteotomies often dictate the advancement of weightbearing, and radiographs are the mainstay imaging tool owing to cost, efficiency, and radiation exposure. Understanding the radiographic parameters that can be used to reliably determine osseous healing is paramount. However, currently, no reliable or validated method is available to determine osseous healing of hindfoot osteotomies in irregular bones of the foot...
October 13, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29034088/emerging-dilemmas-in-the-diagnosis-and-management-of-gastroesophageal-reflux-disease
#6
REVIEW
Peter Kahrilas, Rena Yadlapati, Sabine Roman
Gastroesophageal reflux disease (GERD) is common, but less so than widely reported because of inconsistencies in definition. In clinical practice, the diagnosis is usually based on a symptom assessment without testing, and the extent of diagnostic testing pursued should be limited to that which guides management or which protects the patient from the risks of a potentially morbid treatment or an undetected early (or imminent) esophageal adenocarcinoma or which does both. When testing is pursued, upper gastrointestinal endoscopy is the most useful initial diagnostic test because it evaluates for the major potential morbidities (Barrett's, stricture, and cancer) associated with GERD and facilitates the identification of some alternative diagnostic possibilities such as eosinophilic esophagitis...
2017: F1000Research
https://www.readbyqxmd.com/read/29024425/multicentre-evaluation-of-magnetic-resonance-imaging-supported-transperineal-prostate-biopsy-in-biopsy-na%C3%A3-ve-men-with-suspicion-of-prostate-cancer
#7
N L Hansen, T Barrett, C Kesch, L Pepdjonovic, D Bonekamp, R O'Sullivan, F Distler, A Warren, C Samel, B Hadaschik, J Grummet, C Kastner
OBJECTIVES: To analyse the detection rates of primary MRI-fusion transperineal prostate biopsy using combined targeted and systematic core distribution in three tertiary referral centres. PATIENTS AND METHODS: Multicentre, prospective outcome study of 807 consecutive biopsy-naïve patients having undergone MRI-guided transperineal prostate biopsy as the first diagnostic intervention between 10/2012 and 05/2016. MRI was reported following PI-RADS criteria. 236 patients had 18-24 systematic transperineal biopsies only, and 571 patients underwent additional targeted biopsies either by MRI-fusion or cognitive targeting if PI-RADS ≥3 lesions were present...
October 11, 2017: BJU International
https://www.readbyqxmd.com/read/28981471/microfluidics-based-approaches-to-the-isolation-of-african-trypanosomes
#8
Michael P Barrett, Jonathan M Cooper, Clément Regnault, Stefan H Holm, Jason P Beech, Jonas O Tegenfeldt, Axel Hochstetter
African trypanosomes are responsible for significant levels of disease in both humans and animals. The protozoan parasites are free-living flagellates, usually transmitted by arthropod vectors, including the tsetse fly. In the mammalian host they live in the bloodstream and, in the case of human-infectious species, later invade the central nervous system. Diagnosis of the disease requires the positive identification of parasites in the bloodstream. This can be particularly challenging where parasite numbers are low, as is often the case in peripheral blood...
October 5, 2017: Pathogens
https://www.readbyqxmd.com/read/28972982/feasibility-of-utilizing-the-sd-bioline-onchocerciasis-igg4-rapid-test-in-onchocerciasis-surveillance-in-senegal
#9
Yakou Dieye, Helen L Storey, Kelsey L Barrett, Emily Gerth-Guyette, Laura Di Giorgio, Allison Golden, Dunia Faulx, Michael Kalnoky, Marie Khemesse Ngom Ndiaye, Ngayo Sy, Malang Mané, Babacar Faye, Mamadou Sarr, Elhadji Mamadou Dioukhane, Roger B Peck, Philippe Guinot, Tala de Los Santos
As effective onchocerciasis control efforts in Africa transition to elimination efforts, different diagnostic tools are required to support country programs. Senegal, with its long standing, successful control program, is transitioning to using the SD BIOLINE Onchocerciasis IgG4 (Ov16) rapid test over traditional skin snip microscopy. The aim of this study is to demonstrate the feasibility of integrating the Ov16 rapid test into onchocerciasis surveillance activities in Senegal, based on the following attributes of acceptability, usability, and cost...
October 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28950403/challenges-in-non-invasive-prenatal-screening-for-sub-chromosomal-copy-number-variations-using-cell-free-dna
#10
REVIEW
Henna V Advani, Angela N Barrett, Mark I Evans, Mahesh Choolani
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values...
September 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28947747/a-whole-blood-molecular-signature-for-acute-myocardial-infarction
#11
Evan D Muse, Eric R Kramer, Haiying Wang, Paddy Barrett, Fereshteh Parviz, Mark A Novotny, Roger S Lasken, Timothy A Jatkoe, Glenn Oliveira, Hongfan Peng, Jerry Lu, Mark C Connelly, Kurt Schilling, Chandra Rao, Ali Torkamani, Eric J Topol
Chest pain is a leading reason patients seek medical evaluation. While assays to detect myocyte death are used to diagnose a heart attack (acute myocardial infarction, AMI), there is no biomarker to indicate an impending cardiac event. Transcriptional patterns present in circulating endothelial cells (CEC) may provide a window into the plaque rupture process and identify a proximal biomarker for AMI. Thus, we aimed to identify a transcriptomic signature of AMI present in whole blood, but derived from CECs. Candidate genes indicative of AMI were nominated from microarray of enriched CEC samples, and then verified for detectability and predictive potential via qPCR in whole blood...
September 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28905803/diagnosis-and-treatment-of-gastroesophageal-reflux-disease-complicated-by-barrett-s-esophagus
#12
Andriy Stasyshyn
The aim of the study was to evaluate the effectiveness of a diagnostic and therapeutic algorithm for gastroesophageal reflux disease complicated by Barrett's esophagus in 46 patients. MATERIALS AND METHODS: A diagnostic and therapeutic algorithm for complicated GERD was developed. To describe the changes in the esophagus with reflux esophagitis, the Los Angeles classification was used. Intestinal metaplasia of the epithelium in the lower third of the esophagus was assessed using videoendoscopy, chromoscopy, and biopsy...
August 31, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/28881901/digital-microscopy-as-valid-alternative-to-conventional-microscopy-for-histological-evaluation-of-barrett-s-esophagus-biopsies
#13
M J van der Wel, L C Duits, C A Seldenrijk, G J Offerhaus, M Visser, F J Ten Kate, O J de Boer, J G Tijssen, J J Bergman, S L Meijer
Management of Barrett's esophagus (BE) relies heavily on histopathological assessment of biopsies, associated with significant intra- and interobserver variability. Guidelines recommend biopsy review by an expert in case of dysplasia. Conventional review of biopsies, however, is impractical and does not allow for teleconferencing or annotations. An expert digital review platform might overcome these limitations. We compared diagnostic agreement of digital and conventional microscopy for diagnosing BE ± dysplasia...
November 1, 2017: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28877841/cognitive-behaviour-therapy-for-health-anxiety-in-medical-patients-champ-a-randomised-controlled-trial-with-outcomes-to-5-years
#14
Peter Tyrer, Paul Salkovskis, Helen Tyrer, Duolao Wang, Michael J Crawford, Simon Dupont, Sylvia Cooper, John Green, David Murphy, Georgina Smith, Sharandeep Bhogal, Shaeda Nourmand, Valentina Lazarevic, Gemma Loebenberg, Rachel Evered, Stephanie Kings, Antoinette McNulty, Yvonne Lisseman-Stones, Sharon McAllister, Kofi Kramo, Jessica Nagar, Steven Reid, Rahil Sanatinia, Katherine Whittamore, Gemma Walker, Aaron Philip, Hilary Warwick, Sarah Byford, Barbara Barrett
BACKGROUND: Health anxiety is an under-recognised but frequent cause of distress that is potentially treatable, but there are few studies in secondary care. OBJECTIVE: To determine the clinical effectiveness and cost-effectiveness of a modified form of cognitive-behaviour therapy (CBT) for health anxiety (CBT-HA) compared with standard care in medical outpatients. DESIGN: Randomised controlled trial. SETTING: Five general hospitals in London, Middlesex and Nottinghamshire...
September 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28867477/research-priority-setting-in-barrett-s-oesophagus-and-gastro-oesophageal-reflux-disease
#15
James Britton, Lisa Gadeke, Laurence Lovat, Shaheen Hamdy, Chris Hawkey, John McLaughlin, Yeng Ang
The incidence of gastro-oesophageal reflux disease and Barrett's oesophagus is increasing. Barrett's oesophagus is the main precursor to oesophageal adenocarcinoma, which has a poor prognosis. In view of the vast potential burden of these diseases on patients and health-care resources, there is a real need to define and focus research efforts. This priority setting exercise aimed to produce a list of the top ten uncertainties in the field that reflect the priorities of patients and health-care providers. We adopted the robust and transparent methodologies previously outlined by the James Lind Alliance...
November 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28842188/the-changing-aetiology-of-eosinophilia-in-migrants-and-returning-travellers-in-the-hospital-for-tropical-diseases-london-2002-2015-an-observational-study
#16
Jessica Barrett, Clare E Warrell, Liana Macpherson, Julie Watson, Patricia Lowe, Margaret Armstrong, Christopher J M Whitty
INTRODUCTION: Determining the cause of eosinophilia in patients returning from the tropics continues to present a diagnostic challenge. The history, symptoms and degree of eosinophilia are often poor predictors of eventual diagnosis, but helminths are an important cause. The current British Infection Association recommendations use travel history to guide investigation of eosinophilia. However the global burden of helminth disease and travel patterns have changed over the last 3 decades and guidelines based on previous epidemiology need to be reviewed in the light of current data...
August 24, 2017: Journal of Infection
https://www.readbyqxmd.com/read/28839865/transnasal-endoscopy-no-gagging-no-panic
#17
Clare Parker, Estratios Alexandridis, John Plevris, James O'Hara, Simon Panter
BACKGROUND: Transnasal endoscopy (TNE) is performed with an ultrathin scope via the nasal passages and is increasingly used. This review covers the technical characteristics, tolerability, safety and acceptability of TNE and also diagnostic accuracy, use as a screening tool and therapeutic applications. It includes practical advice from an ear, nose, throat (ENT) specialist to optimise TNE practice, identify ENT pathology and manage complications. METHODS: A Medline search was performed using the terms "transnasal", "ultrathin", "small calibre", "endoscopy", "EGD" to identify relevant literature...
October 2016: Frontline Gastroenterology
https://www.readbyqxmd.com/read/28833365/magnetic-resonance-imaging-findings-of-the-proximal-metacarpus-in-quarter-horses-used-for-cutting-retrospective-analysis-of-32-horses-2009-2012
#18
M F Barrett, P T Manchon, J Hersman, C E Kawcak
BACKGROUND: Injury to the proximal suspensory ligament is a common cause of lameness in cutting horses. Radiographic and ultrasonographic imaging of lesions responsible for lameness can provide ambiguous results. MRI provides the most comprehensive diagnostic imaging evaluation of lesions specifically affecting cutting horses. OBJECTIVES: Describe the distribution and severity of bone and soft tissue lesions present in the proximal metacarpus of Quarter Horse cutting horses and assess the impact of these lesions on return to competition...
August 18, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28815063/the-impact-of-flexible-endoscopy-in-esophageal-surgery
#19
REVIEW
Alejandro Nieponice, Fabio Nachman, Adolfo Badaloni, Franco Ciotola, Cecilia Zubieta, Mauricio Ramirez
Achalasia and Treatment of esophageal Adenocarcinoma are commonly associated to surgical resection. Newer technologies in interventional endoscopy gave way to a substantial paradigm shift in the management of these conditions. In the case of achalasia, endoscopic myotomy is rapidly displacing Heller's myotomy as the gold standard in many centers. Early stage neoplasia in Barrett's esophagus (BE) comprising high-grade dysplasia (HGD), intramucosal and, in some cases, submucosal carcinoma is now being treated without the need of esophagectomy...
July 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28807490/fabp1-and-hepar-expression-levels-in-barrett-s-esophagus-and-associated-neoplasia-in-an-asian-population
#20
Supriya Srivastava, Florian Kern, Neel Sharma, Frank McKeon, Wa Xian, Khay Guan Yeoh, Khek Yu Ho, Ming Teh
INTRODUCTION: Barrett's esophagus (BE) is a premalignant condition associated with esophageal adenocarcinoma (EAC). Evidence highlights that EAC is associated with an estimated 5-year survival of approximately 10-15%. Therefore, there is a need to determine which biomarkers are of value in the diagnosis of BE and beyond. The aim of our study was to evaluate the clinical significance of markers known to be expressed across BE and associated neoplasia. METHODS: Retrospective tissues were obtained from columnar lined esophagus (CLE) without goblet cells (n=22), BE (n=29), dysplasia (n=14), and EAC (n=10)...
July 27, 2017: Digestive and Liver Disease
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