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Dysmotility

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https://www.readbyqxmd.com/read/29456554/compound-heterozygous-variants-in-the-coiled-coil-domain-containing-40-gene-in-a-chinese-family-with-primary-ciliary-dyskinesia-cause-extreme-phenotypic-diversity-in-cilia-ultrastructure
#1
Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 ( CCDC40 ) gene are associated with PCD. A Chinese proband with a clinical diagnosis of PCD was analyzed for mutations in these genes to identify the genetic basis of the disease in the family. The proband showed altered mucociliary clearance of the airways, various degree of hyperemia and edema of the mucous membrane, left/right body asymmetry, infertility and ultrastructural abnormality of cilia in both sperm and bronchioles...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29444329/gastroesophageal-reflux-symptoms-are-not-sufficient-to-guide-esophageal-function-testing-in-lung-transplant-candidates
#2
S Posner, J Zheng, R K Wood, R A Shimpi, M G Hartwig, S-C Chow, D A Leiman
Gastroesophageal reflux disease and esophageal dysmotility are prevalent in patients with advanced lung disease and are associated with graft dysfunction following lung transplantation. As a result, many transplant centers perform esophageal function testing as part of the wait-listing process but guidelines for testing in this population are lacking. The aim of this study is to describe whether symptoms of gastroesophageal reflux correlate with abnormal results on pH-metry and high-resolution manometry and can be used to identify those who require testing...
February 9, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/29435755/surgical-management-of-gastroesophageal-reflux-disease-in-patients-with-systemic-sclerosis
#3
Jingliang Yan, Andrew T Strong, Gautam Sharma, Scott Gabbard, Prashanti Thota, John Rodriguez, Matthew Kroh
BACKGROUND: Systemic sclerosis (scleroderma) is frequently associated with both gastroesophageal reflux disease (GERD) and simultaneous esophageal dysmotility. Anti-reflux procedures in this patient population must account for the existing physiology of each patient and likely disease progression. We aim to compare perioperative and intermediate outcomes of fundoplication versus gastric bypass for the treatment of GERD. METHODS: After IRB approval, patients with systemic sclerosis undergoing fundoplication or gastric bypass for the treatment of GERD from 2004 to 2016 were identified...
February 12, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29435273/efficacy-of-vonoprazan-for-24-week-maintenance-therapy-of-patients-with-healed-reflux-esophagitis-refractory-to-proton-pump-inhibitors
#4
Hideki Mizuno, Kazutoshi Yamada, Keiji Minouchi, Shinji Kamiyamamoto, Yoshinobu Hinoue
The aim of the present study was to evaluate the efficacy of a potassium-competitive acid blocker (P-CAB), vonoprazan, for the maintenance therapy of healed reflux esophagitis (RE). A total of 60 patients were enrolled in this open-label, single-center, prospective study. All patients were diagnosed with RE with a frequency scale for the symptoms of gastroesophageal reflux disease (FSSG) total score ≥8 following treatment with standard proton pump inhibitors (PPIs) for a minimum of 8 weeks. Standard PPI treatment was switched to vonoprazan 20 mg once daily for 4 weeks...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29429770/structural-airway-abnormalities-contribute-to-dysphagia-in-children-with-esophageal-atresia-and-tracheoesophageal-fistula
#5
Katherine J Baxter, Lauren M Baxter, April M Landry, Mark L Wulkan, Amina M Bhatia
BACKGROUND: Long-term dysphagia occurs in up to 50% of repaired esophageal atresia and tracheoesophageal fistula (EA/TEF) patients. The underlying factors are unclear and may include stricture, esophageal dysmotility, or associated anomalies. Our purpose was to determine whether structural airway abnormalities (SAA) are associated with dysphagia in EA/TEF. METHODS: We conducted a retrospective chart review of children who underwent EA/TEF repair in our hospital system from 2007 to 2016...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29429536/are-patients-affected-by-mitochondrial-disorders-at-nutritional-risk
#6
Emilie Aubry, Carla Aeberhard, Lia Bally, Jean-Marc Nuoffer, Lorenz Risch, Stefan Mühlebach, Jean-Marc Burgunder, Zeno Stanga
OBJECTIVES: Patients with mitochondrial disorders (MD) frequently present with gastrointestinal complaints, mainly gastrointestinal dysmotility, that interfere with their food intake. A deterioration of their nutritional state may worsen the course of the disease. Our study aimed to evaluate a simple screening tool to identify nutritional risk and perform an extended nutritional assessment to explore the potential presence of deficiencies in this population compared with controls. METHODS: A prospective cohort study was conducted to compare outpatients with MD to matched healthy controls...
March 2018: Nutrition
https://www.readbyqxmd.com/read/29425286/central-neuropeptide-y-plays-an-important-role-in-mediating-the-adaptation-mechanism-against-chronic-stress-in-male-rats
#7
Yu Yang, Reji Babygirija, Jun Zheng, Bei Shi, Weinan Sun, Xiaojiao Zheng, Fan Zhang, Yu Cao
Exposure to continuous life stress often causes gastrointestinal (GI) symptoms. Studies have shown that neuropeptide Y (NPY) counteracts the biological actions of corticotrophin-releasing factor (CRF), and is involved in the termination of the stress response. However, in chronic repeated restraint stress (CRS) conditions, the actions of NPY on GI motility remain controversial. To evaluate the role of NPY in mediation of the adaptation mechanism and GI motility in CRS conditions, a CRS rat model was set up...
February 7, 2018: Endocrinology
https://www.readbyqxmd.com/read/29411918/esophageal-dysmotility-according-to-chicago-classification-v3-0-vs-v2-0-implications-for-association-with-reflux-bolus-clearance-and-allograft-failure-post-lung-transplantation
#8
A Tangaroonsanti, M F Vela, M D Crowell, K R DeVault, L A Houghton
BACKGROUND: Proximal reflux and incomplete transit of boluses swallowed are risk factors for obstructive chronic lung allograft dysfunction (o-CLAD) post-lung transplantation (LTx). Likewise, so is esophagogastric junction outflow obstruction (EGJOO), but not hypo-contractility, when diagnosed using Chicago Classification (CC) v3.0. Given, peristaltic breaks as defined using CCv2.0 can prolong esophageal clearance, both swallowed and refluxed, but which are deemed within normality using CCv3...
February 7, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29397195/pyridostigmine-for-the-treatment-of-gastrointestinal-symptoms-in-systemic-sclerosis
#9
Nitin K Ahuja, Leah Mische, John O Clarke, Fredrick M Wigley, Zsuzsanna H McMahan
BACKGROUND/PURPOSE: Symptoms of gastrointestinal dysmotility are common among patients with systemic sclerosis (SSc), and the management of severe cases is often limited by a relative lack of effective interventions. The objective of this case series was to review our experience with pyridostigmine as a treatment for patients with SSc and symptomatic gastrointestinal disease. METHODS: This study evaluated rates of symptom improvement, side effects, medication adherence, and dose ranges for SSc patients prescribed pyridostigmine for refractory gastrointestinal symptoms over a 10-year period at a quaternary referral center...
January 5, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29393230/chronic-kidney-disease-elicits-an-intestinal-inflammation-resulting-in-intestinal-dysmotility-associated-with-the-activation-of-inducible-nitric-oxide-synthesis-in-rat
#10
Chao Yu, Shanjun Tan, Zhen Wang, Bingqing Deng, Jin Li, Qiang Wang, Chunyu Zhou, Xin Kang, Zhen Yu, Shougang Zhuang
This study was conducted to investigate whether chronic kidney disease (CKD) affects intestinal inflammation and intestinal motility and the underlying mechanisms. Rats were randomized into control group and uremic group. Uremia rats were induced by the 5/6 kidney resection, while the control went through the same procedures but without any kidney resection. Intestinal motility was assessed by charcoal transport assay; intestinal inflammation was assessed by analyses of levels of tumor necrosis factor (TNF)-α, interleukin (IL)-6, and IL-10 in the ileum tissue...
January 31, 2018: Digestion
https://www.readbyqxmd.com/read/29390428/clinical-and-serological-features-of-systemic-sclerosis-in-a-multicenter-african-american-cohort-analysis-of-the-genome-research-in-african-american-scleroderma-patients-clinical-database
#11
Nadia D Morgan, Ami A Shah, Maureen D Mayes, Robyn T Domsic, Thomas A Medsger, Virginia D Steen, John Varga, Mary Carns, Paula S Ramos, Richard M Silver, Elena Schiopu, Dinesh Khanna, Vivien Hsu, Jessica K Gordon, Heather Gladue, Lesley A Saketkoo, Lindsey A Criswell, Chris T Derk, Marcin A Trojanowski, Victoria K Shanmugam, Lorinda Chung, Antonia Valenzuela, Reem Jan, Avram Goldberg, Elaine F Remmers, Daniel L Kastner, Fredrick M Wigley, Pravitt Gourh, Francesco Boin
Racial differences exist in the severity of systemic sclerosis (SSc). To enhance our knowledge about SSc in African Americans, we established a comprehensive clinical database from the largest multicenter cohort of African American SSc patients assembled to date (the Genome Research in African American Scleroderma Patients (GRASP) cohort).African American SSc patients were enrolled retrospectively and prospectively over a 30-year period (1987-2016), from 18 academic centers throughout the United States. The cross-sectional prevalence of sociodemographic, clinical, and serological features was evaluated...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29386673/resolution-of-esophageal-dysmotility-following-treatment-of-nasal-disease-in-a-dog
#12
Laura Harjes, Helene Le Pommellet, Eric Hostnik, Adam Rudinsky
A 2-year-old Rottweiler dog was evaluated for cough, regurgitation, and nasal discharge, and was subsequently diagnosed with sinonasal aspergillosis and secondary esophageal disease. Following treatment of sinonasal aspergillosis, all clinical signs resolved. To the authors' knowledge, this is the first report of resolution of esophageal dysfunction following treatment of sinonasal aspergillosis.
February 2018: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/29383301/association-between-minimal-change-esophagitis-and-gastric-dysmotility-a-single-center-electrogastrography-and-endoscopy-study-in-children
#13
Kyung In Lim, Sung Bo Shim, Hann Tchah, Eell Ryoo
Purpose: Minimal change esophagitis (MCE) is a reflux disease without mucosal breaks, known to be partially associated with abnormal gastric motor function. Electrogastrography (EGG) is commonly applied to assess gastric motor function in a noninvasive fashion. We aimed to determine the relationship between MCE and gastric myoelectrical activity (GME) recorded on EGG in children. Methods: We retrospectively assessed the records of 157 children without underlying disease who underwent both EGG and upper gastrointestinal endoscopy at Gachon University Gil Medical Center between January 2010 and June 2015...
January 2018: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29354167/neonatal-severe-hyperparathyroidism-secondary-to-a-novel-homozygous-casr-gene-mutation
#14
Noman Ahmad, Mona Bahasan, Balgees Abdulhadi Abdullah Al-Ghamdi, Halah Faleh Al-Enizi, Ali Saeed Al-Zahrani
Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#15
L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29344711/adult-picc-device-may-be-used-as-a-tunnelled-central-venous-catheter-in-children
#16
Brooke T Lawson, Ian A Zealley
PURPOSE: Central venous access in children, in particular small children and infants, is challenging. We have developed a technique employing adult peripherally inserted central venous catheters (PICCs) as tunnelled central venous catheters (TCVCs) in children. The principal advantage of this novel technique is that the removal technique is less complex than that of conventional cuffed TCVCs. The catheter can be removed simply by being pulled out and does not require general anaesthesia...
January 17, 2018: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/29341898/induction-of-alpha-synuclein-pathology-in-the-enteric-nervous-system-of-the-rat-and-non-human-primate-results-in-gastrointestinal-dysmotility-and-transient-cns-pathology
#17
Fredric P Manfredsson, Kelvin C Luk, Matthew J Benskey, Aysegul Guezer, Joanna Garcia, Nathan C Kuhn, Ivette M Sandoval, Joseph R Patterson, Alana O'Mara, Reid Yonkers, Jeffrey H Kordower
Alpha-Synuclein (α-syn) is by far the most highly vetted pathogenic and therapeutic target in Parkinson's disease. Aggregated α-syn is present in sporadic Parkinson's disease, both in the central nervous system (CNS) and peripheral nervous system (PNS). The enteric division of the PNS is of particular interest because 1) gastric dysfunction is a key clinical manifestation of Parkinson's disease, and 2) Lewy pathology in myenteric and submucosal neurons of the enteric nervous system (ENS) has been referred to as stage zero in the Braak pathological staging of Parkinson's disease...
January 13, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29333824/eosinophilic-esophagitis-and-esophageal-atresia-coincidence-or-causality
#18
Karen V Stave Salgado, Ana M Rocca
Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus characterized by symptoms related to esophageal dysfunction and tissue eosinophilia. In the endoscopy, the esophageal mucosa may appear normal or show exudates, rings, edema, furrows, and strictures. Its management is based on elimination diet, topical corticosteroids and/or esophageal dilation. Atresia is the most common congenital alteration of the esophagus; it requires surgical repair and poses potential complications, such as gastroesophageal reflux, strictures, and esophageal dysmotility...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#19
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
https://www.readbyqxmd.com/read/29308779/a-frequently-missed-entity-in-systemic-lupus-erythematosus-sle-intestinal-pseudo-obstruction-ipso
#20
L Shirley, R J Thundyil
Intestinal pseudo-obstruction (IpsO) is defined as presence of clinical features of intestinal obstruction without identifiable mechanical obstructive lesion. IpsO is an uncommon gastrointestinal manifestation of systemic lupus erythematosus (SLE) and is largely under-recognised. There are only over 30 published cases in English literature on SLE-related IpsO. Herein, we report two cases of SLE-related IpsO to illustrate the importance of early recognition to avoid unnecessary surgical intervention, as SLE-related IpsO responds well to systemic high dose corticosteroids...
December 2017: Medical Journal of Malaysia
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