Read by QxMD icon Read

Molecular diagnosis reflux

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: Journal of Visualized Surgery
O L Morozova, D A Morozov, D Y Lakomova, V V Iakovlev, V V Rostovskaya, I A Budnik, L D Maltseva
Vesicoureteral reflux (VUR) is the most common type of obstructive uropathy in children. Reflux nephropathy (RN) is one of the most common complications of VUR that inevitably leads to chronic kidney disease. Patients with end-stage kidney disease require costly treatment, and the only way to cure them is kidney transplantation. A timely institution of renoprotective therapy is a key factor helping to preserve the function of the native kidneys. Hence, it is necessary to devise new highly sensitive and minimally invasive methods for early diagnosis of RN...
September 2017: Urologii︠a︡
Manish Arora, Preet Bagi, Anna Strongin, Jennifer Heimall, Xiongce Zhao, Monica G Lawrence, Apurva Trivedi, Carolyn Henderson, Amy Hsu, Martha Quezado, David E Kleiner, Aradhana M Venkatesan, Steven M Holland, Alexandra F Freeman, Theo Heller
OBJECTIVE: STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease. METHODS: Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH)...
October 2017: Journal of Clinical Immunology
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...
February 2018: Clinical Otolaryngology
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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"