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Molecular diagnosis reflux

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https://www.readbyqxmd.com/read/28620964/does-gene-expression-in-laryngeal-subsites-differ-between-patients-with-laryngopharyngeal-reflux-and-controls
#1
J M Wood, D J Hussey, C M Woods, D Astill, D I Watson, B Lee, A S Carney
OBJECTIVE: To identify laryngeal mRNA gene changes in patients with laryngopharyngeal reflux (LPR). METHOD: Laryngeal biopsies from non-smoking LPR patients (n=10; Reflux Symptom Index (RSI) >12 and a Reflux Finding Score (RFS) >6) and controls (n=9; RSI <12 and RFS <6) were collected from four subsites (true vocal cord, false vocal cord, medial arytenoid and posterior commissure) of the larynx. qRT-PCR analyses were conducted on 20 reflux- and inflammation-related genes, including interleukins 6 and 8, cytokeratins 8 and 14, mucin genes MUC1, MUC2, MUC3B, MUC4, MUC5B, MUC6 and MUC7 and carbonic anhydrase III...
June 16, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28562558/clinicopathological-parameters-associated-with-histological-background-and-recurrence-after-surgical-intervention-of-vocal-cord-leukoplakia
#2
Weixin Cui, Wen Xu, Qingwen Yang, Rong Hu
Histological examination of biopsy shows usefulness in the diagnosis of vocal cord leukoplakia; however, in considerable amount of cases, the examination cannot provide definitive diagnosis of malignancy from benign conditions such as hyperplasia and dysplasia. The present work therefore was aimed to identify clinicopathological factors and molecular markers predictive of recurrence and malignant transformation of vocal cord leukoplakia.Clinical data of 555 cases of vocal cord leukoplakia enrolled from July 1999 to June 2014 were analyzed...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445189/proton-pump-inhibitor-responsive-esophageal-eosinophilia-still-a-valid-diagnosis
#3
Javier Molina-Infante, Pedro L Gonzalez-Cordero, Alfredo J Lucendo
PURPOSE OF REVIEW: To update rapidly evolving concepts regarding the controversial entity of 'proton pump inhibitor (PPI)-responsive esophageal eosinophilia,' referring to patients with clinical, endoscopic and histologic features of eosinophilic esophagitis (EoE) who achieve remission on PPI therapy. RECENT FINDINGS: Up to half of pediatric and adult patients with typical EoE symptoms and histology achieve clinico-pathologic remission on PPI therapy, irrespective of whether esophageal pH monitoring demonstrates abnormal acid reflux...
July 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28316321/analyzing-esophageal-squamous-cell-papillomas-for-the-presence-of-human-papilloma-vir%C3%A3-s
#4
Arzu Tiftikçi, Eser Kutsal, Ender Altıok, Ümit İnce, Bahattin Çicek, Murat Saruç, Nurten Türkel, Özdal Ersoy, Güven Yenmiş, Nurdan Tözün
BACKGROUND/AIMS: Human Papilloma Virus (HPV) infection can be a predisposing condition for the development of squamous cell papilloma (SCP) of the esophagus, which can progress to dysplasia and to carcinoma as a result of chronic infection. The aim of the present study was to search for the presence of HPV in the esophageal SCP, and to genotype the detected HPV. MATERIALS AND METHODS: Data from patients with definite diagnosis of SCP of the esophagus were identified from pathology records for two years period at different Hospitals...
May 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28040132/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p12%C3%A2-q13-1-associated-with-phenotypic-abnormalities
#5
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27638345/pneumatosis-intestinalis-during-chemotherapy-with-nilotinib-in-a-patient-with-chronic-myeloid-leukemia-who-tested-positive-for-anti-topoisomerase-i-antibodies
#6
REVIEW
Akihito Fujimi, Hiroki Sakamoto, Yuji Kanisawa, Shinya Minami, Yasuhiro Nagamachi, Naofumi Yamauchi, Soushi Ibata, Junji Kato
A 55-year-old man with several comorbidities including idiopathic interstitial pneumonia under long-term corticosteroid therapy, longstanding myocardial infarction, chronic heart failure, paroxysmal atrial fibrillation, gastro-esophageal reflux disease, constipation, and history of paralytic ileus, was diagnosed with chronic myelogenous leukemia (CML) in the chronic phase. He also tested positive for anti-topoisomerase I antibodies without clinical diagnosis of any connective tissue disease, including systemic sclerosis...
December 2016: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/27312922/end-stage-renal-disease-in-an-infant-with-hajdu-cheney-syndrome
#7
Nina Battelino, Karin Writzl, Nevenka Bratanič, Melita D Irving, Gregor Novljan
Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed...
June 2016: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/27179157/primary-extraskeletal-ewing-sarcoma-of-the-stomach-a-rare-disease-in-an-uncommon-location
#8
Aaron W P Maxwell, Stephanie Wood, Damian E Dupuy
We report the case of a 63-year-old female undergoing evaluation of symptomatic anemia, gastroesophageal reflux disease, and abdominal pain. After a thorough diagnostic workup, a large, ulcerated mass was identified in the patient's stomach, and surgical pathology in combination with molecular analysis yielded a diagnosis of primary extraskeletal Ewing sarcoma. In our report, we discuss the epidemiologic, clinicopathologic, and radiographic features of this rare disease and provide a review of the existing literature...
September 2016: Clinical Imaging
https://www.readbyqxmd.com/read/26970126/mechanisms-of-esophageal-adenocarcinoma-formation-and-approaches-to-chemopreventive-intervention
#9
REVIEW
Ellen Richmond, Asad Umar
The incidence of esophageal adenocarcinoma (EAC), a debilitating and highly lethal malignancy, has risen dramatically over the past 40 years in the United States and other Western countries. To reverse this trend, EAC prevention and early detection efforts by clinicians, academic researchers and endoscope manufacturers have targeted Barrett's esophagus (BE), the widely accepted EAC precursor lesion. Data from surgical, endoscopic and pre-clinical investigations strongly support the malignant potential of BE...
February 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/26849814/laryngeal-squamous-intraepithelial-lesions-an-updated-review-on-etiology-classification-molecular-changes-and-treatment
#10
REVIEW
Nina Gale, Douglas R Gnepp, Mario Poljak, Primož Strojan, Antonio Cardesa, Tim Helliwell, Robert Šifrer, Metka Volavšek, Ann Sandison, Nina Zidar
Laryngeal carcinogenesis is a multistep process, characterized by an accumulation of genetic changes associated with architectural and cytologic alterations, ranging from squamous hyperplasia to carcinoma in situ and encompassed by the terminology of squamous intraepithelial lesions (SILs). The etiology, classification, genetic changes, and malignant progression of these lesions are reviewed. Tobacco remains the principal etiological factor with gastroesophageal reflux disease recently considered as a possible factor...
March 2016: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/26701315/a-series-of-38-novel-germline-and-somatic-mutations-of-nipbl-in-cornelia-de-lange-syndrome
#11
M Nizon, M Henry, C Michot, C Baumann, A Bazin, B Bessières, S Blesson, M-P Cordier-Alex, A David, A Delahaye-Duriez, A-L Delezoïde, A Dieux-Coeslier, M Doco-Fenzy, L Faivre, A Goldenberg, V Layet, P Loget, S Marlin, J Martinovic, S Odent, L Pasquier, G Plessis, F Prieur, A Putoux, M Rio, H Testard, J-P Bonnefont, V Cormier-Daire
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26428868/diffuse-and-multifocal-nephrogenic-adenoma-with-familial-mediterranean-fever-a-case-report-with-molecular-study
#12
Noriyoshi Ishikawa, Chika Amano, Takeshi Taketani, Koji Kumori, Yuji Harada, Hisayuki Hiraiwa, Kayoko Itamura, Riruke Maruyama
Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experienced a case of nephrogenic adenoma in a 16-year-old girl with Familial Mediterranean Fever, showing proliferative lesions diffusely in the urinary bladder and multifocally in the other parts of urinary tract...
July 16, 2015: Diagnostic Pathology
https://www.readbyqxmd.com/read/26022880/eosinophilic-oesophagitis
#13
Ralf G Heine, Katrina J Allen
Eosinophilic oesophagitis (EoE) is an antigen-driven pan-oesophagitis that is defined by the presence of at least 15 eosinophils per high power field on oesophageal histology in conjunction with upper gastrointestinal symptoms. EoE is closely associated with atopic disorders, in particular with food allergy, and as for other atopic diseases in childhood, there is a strong preponderance of male patients who have this disorder. The mechanisms leading to EoE have been characterised at the molecular level. Eotaxin-3, interleukin-5 and interleukin-13 are the key effector molecules in EoE pathogenesis...
2015: Chemical Immunology and Allergy
https://www.readbyqxmd.com/read/25743457/barrett-s-oesophagus-can-meaningful-screening-and-surveillance-guidelines-be-formulated-based-on-new-data-and-rejigging-the-old-paradigm
#14
REVIEW
Shanmugarajah Rajendra
Gastro-oesophageal reflux disease (GORD) and Barrett's oesophagus (BO) have been considered to be the most important known risk factors for oesophageal adenocarcinoma (OAC). It has been the fastest growing cancer in the Western World and has occurred against a backdrop of progressive reduction in the risk estimate of malignancy associated with BO and no reduction in mortality from OAC using the prevailing screening and surveillance guidelines. The recently published link between high risk HPV and Barrett's dysplasia/cancer may be the 'missing' strong risk factor responsible for the significant rise of OAC since the 1970's, as has been the case with head and neck tumours, another viral associated cancer...
February 2015: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/25632808/adiponectin-may-modify-the-risk-of-barrett-s-esophagus-in-patients-with-gastroesophageal-reflux-disease
#15
Lucy M Almers, James E Graham, Peter J Havel, Douglas A Corley
BACKGROUND & AIMS: Abdominal obesity and increasing body mass index are risk factors for esophageal adenocarcinoma and its main precursor, Barrett's esophagus; however, there are no known biological mechanisms for these associations or regarding why only some patients with gastroesophageal reflux disease develop Barrett's esophagus. We evaluated the association between Barrett's esophagus and multimers of an adipose-associated hormone, adiponectin. METHODS: We conducted a case-control study evaluating the associations between adiponectin (total, high-molecular-weight, and low-/medium-molecular-weight) and Barrett's esophagus within the Kaiser Permanente Northern California population...
December 2015: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/25510779/the-first-korean-case-of-hdr-syndrome-confirmed-by-clinical-and-molecular-investigation
#16
Chong Kun Cheon, Gu Hwan Kim, Han Wook Yoo
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents...
January 2015: Yonsei Medical Journal
https://www.readbyqxmd.com/read/25502391/microrna-expression-can-be-a-promising-strategy-for-the-detection-of-barrett-s-esophagus-a-pilot-study
#17
Ajay Bansal, Xiaoman Hong, In-Hee Lee, Kausilia K Krishnadath, Sharad C Mathur, Sumedha Gunewardena, Amit Rastogi, Prateek Sharma, Lane K Christenson
OBJECTIVES: Patient outcomes for esophageal adenocarcinoma (EAC) have not improved despite huge advances in endoscopic therapy because cancers are being diagnosed late. Barrett's esophagus (BE) is the primary precursor lesion for EAC, and thus the non-endoscopic molecular diagnosis of BE can be an important approach to improve EAC outcomes if robust biomarkers for timely diagnosis are identified. MicroRNAs (miRNAs) are tissue-specific novel biomarkers that regulate gene expression and may satisfy this requirement...
December 11, 2014: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/25048067/the-light-solution-for-barrett-s-oesophagus-photodiagnosis-and-photodynamic-therapy-for-columnar-lined-oesophagus
#18
H Barr, C Kendall, N Stone
BACKGROUND: Barrett's oesophagus is the columnar-lined metaplasia that occurs in response to severe gastro-oesophageal reflux and accounts for the dramatic rise in adenocarcinoma at the gastro-oesophageal junction. DIAGNOSTIC METHODS: Endoscopic recognition and pathological diagnosis of the condition is fraught with erroneous interpretation of the pre-malignant degeneration of dysplasia. Screening and surveillance programmes have yet to impact on the disease. Photodiagnosis by spectroscopy and imaging is under intense investigation...
May 2004: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/24357464/interstitial-deletion-14q22-3-q23-2-genotype-phenotype-correlation
#19
María Luisa Martínez-Frías, Javier Gonzalo Ocejo-Vinyals, Rosa Arteaga, María Luisa Martínez-Fernández, Alexandra Macdonald, Elena Pérez-Belmonte, Eva Bermejo-Sánchez, Salvador Martínez
The increasing use of molecular tools in genetic diagnosis has produced a surge in the detection of genomic imbalances. Among the growing number of newly discovered chromosome alterations are the interstitial deletions 14q21-q23. In previous reports of this deletion, the patients appear to share ocular defects, pituitary alterations and hand/foot anomalies. Here, we present a 12-year-old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay, in whom an interstitial deletion 14q22...
March 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23978633/molecular-diagnosis-of-eosinophilic-esophagitis-by-gene-expression-profiling
#20
Ting Wen, Emily M Stucke, Tommie M Grotjan, Katherine A Kemme, J Pablo Abonia, Philip E Putnam, James P Franciosi, Jose M Garza, Ajay Kaul, Eileen C King, Margaret H Collins, Jonathan P Kushner, Marc E Rothenberg
BACKGROUND & AIMS: Gene expression profiling provides an opportunity for definitive diagnosis but has not yet been well applied to inflammatory diseases. Here we describe an approach for diagnosis of an emerging form of esophagitis, eosinophilic esophagitis (EoE), which is currently diagnosed by histology and clinical symptoms. METHODS: We developed an EoE diagnostic panel (EDP) comprising a 96-gene quantitative polymerase chain reaction array and an associated dual-algorithm that uses cluster analysis and dimensionality reduction using a cohort of randomly selected esophageal biopsy samples from pediatric patients with EoE (n = 15) or without EoE (non-EoE controls, n = 14) and subsequently vetted the EDP using a separate cohort of 194 pediatric and adult patient samples derived from both fresh or formalin-fixed, paraffin-embedded tissue: active EoE (n = 91), control (non-EoE and EoE remission, n = 57), histologically ambiguous (n = 34), and reflux (n = 12) samples...
December 2013: Gastroenterology
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