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Molecular diagnosis reflux

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...
September 16, 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...
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...
2014: Clinical and Translational Gastroenterology
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
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
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
Subhash Chandra, Emmanuel C Gorospe, Cadman L Leggett, Kenneth K Wang
Barrett's esophagus (BE) is the only established precursor lesion in the development of esophageal adenocarcinoma (EAC) and it increases the risk of cancer by 11-fold. It is regarded as a complication of gastroesophageal reflux disease. There is an ever-increasing body of knowledge on the pathogenesis, diagnosis, treatment, and surveillance of BE and its associated dysplasia. In this review, we summarize the latest advances in BE research and clinical practice in the past 2 years. It is critical to understand the molecular underpinnings of this disorder to comprehend the clinical outcomes of the disease...
May 2013: Current Gastroenterology Reports
Gerda Brakmane, Seyed Yazdan Madani, Alexander Seifalian
BACKGROUND: Cancer is a potentially fatal diagnosis, but due to modern medicine there is a potential cure in many of these cases. The rate of treatment success depends on early disease detection and timely, effective delivery of tumour specific treatment. There are many ongoing researches aimed to improve diagnostics or treatment, but the option to use both modalities concomitantly is deficient. In this project we are using the advances in nanotechnology to develop new theranostic tool using single walled carbon nanotubes (SWCNT) and Quantum dots (QDs) for early cancer cell detection, and option to deliver targeted treatment...
June 2013: Anti-cancer Agents in Medicinal Chemistry
Charles H C Pilgrim, Ryan T Groeschl, Kathleen K Christians, T Clark Gamblin
BACKGROUND: Gallbladder cancer (GBC) is a rare malignancy, yet certain groups are at higher risk. Knowledge of predisposing factors may facilitate earlier diagnosis by enabling targeted investigations into otherwise non-specific presenting signs and symptoms. Detecting GBC in its initial stages offers patients their best chance of cure. METHODS: PubMed was searched for recent articles (2008-2012) on the topic of risk factors for GBC. Of 1490 initial entries, 32 manuscripts reporting on risk factors for GBC were included in this review...
November 2013: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
M Barth, V Serre, L Hubert, Y Chaabouni, N Bahi-Buisson, M Cadoudal, D Rabier, S Nguyen The Tich, M Ribeiro, D Ricquier, A Munnich, D Bonneau, P de Lonlay, L Christa
BACKGROUND: Aromatic amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder resulting in a combined dopamine and serotonin deficiency. About 50% of the cases set in the neonatal period. Here, we report an atypical clinical presentation with moderate symptoms. PATIENT: At 10months old, the patient presented paroxysmal eye movements without seizures, and feeding difficulties which were attributed to gastroesophageal reflux. She was investigated at the age of 7years, because of orofacial dyspraxia, hypomimie, axial hypotonia and focal segmental dystonia, bilateral ptosis, without evidence for cognitive impairment...
2012: JIMD Reports
S K Kabra, Rakesh Lodha, Poonam Mehta
Development of Pediatric Pulmonology as a speciality in India is steadily improving over past few decades. Present profile of Indian pediatric chest services include: asthma, recurrent infections, bronchiectasis, etc. It is expected to change and the emerging pulmonary illnesses include: human immunodeficiency virus (HIV infection) associated pulmonary illnesses, cystic fibrosis, primary ciliary dyskinesia, bronchopulmonary dysplasia, interstitial lung diseases, gastroesophageal reflux diseases, neuromuscular illnesses, sleep disorders, disorders due to malformations and opportunistic pulmonary infections...
January 8, 2013: Indian Pediatrics
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