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Dysmotility

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https://www.readbyqxmd.com/read/27902697/a-novel-zebrafish-ret-heterozygous-model-of-hirschsprung-disease-identifies-a-functional-role-for-mapk10-as-a-modifier-of-enteric-nervous-system-phenotype-severity
#1
Tiffany A Heanue, Werend Boesmans, Donald M Bell, Koichi Kawakami, Pieter Vanden Berghe, Vassilis Pachnis
Hirschsprung disease (HSCR) is characterized by absence of enteric neurons from the distal colon and severe intestinal dysmotility. To understand the pathophysiology and genetics of HSCR we developed a unique zebrafish model that allows combined genetic, developmental and in vivo physiological studies. We show that ret mutant zebrafish exhibit cellular, physiological and genetic features of HSCR, including absence of intestinal neurons, reduced peristalsis, and varying phenotype expressivity in the heterozygous state...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27894337/intestinal-dysbiosis-is-common-in-systemic-sclerosis-and-associated-with-gastrointestinal-and-extraintestinal-features-of-disease
#2
Kristofer Andréasson, Zaid Alrawi, Anita Persson, Göran Jönsson, Jan Marsal
BACKGROUND: Recent evidence suggests a link between autoimmunity and the intestinal microbial composition in several rheumatic diseases including systemic sclerosis (SSc). The objective of this study was to investigate the prevalence of intestinal dysbiosis in SSc and to characterise patients suffering from this potentially immunomodulatory deviation. METHODS: This study consisted of 98 consecutive patients subject to in-hospital care. Stool samples were analysed for intestinal microbiota composition using a validated genome-based microbiota test (GA-map™ Dysbiosis Test, Genetic Analysis, Oslo, Norway)...
November 29, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27891756/motility-patterns-in-mouse-colon-gastrointestinal-dysfunction-induced-by-anticancer-chemotherapy
#3
REVIEW
N J Spencer
Colon cancer is a leading cause of cancer-related death in humans. 5-Fluorouracil (5-FU), a major chemotherapy treatment, has been used for decades to fight numerous types of cancers, including breast, colon, and head and neck carcinomas. Unfortunately, a large proportion of patients treated with 5-FU develop toxicities that include diarrhea, mucositis, neutropenia, and vomiting. While the side effects of 5-FU are well known, the mechanisms underlying the induction of these unpleasant symptoms are poorly understood...
December 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27889322/landmark-reading-alterations-in-patients-with-gastro-oesophageal-reflux-symptoms-undergoing-diagnostic-gastroscopy
#4
Mustafa Kaplan, Alpaslan Tanoglu, Yusuf Serdar Sakin, Taner Akyol, Kemal Oncu, Muammer Kara, Yusuf Yazgan
BACKGROUND AND STUDY AIMS: There is still a debate about the exact measurement of the oesophagogastric junction and the diaphragmatic hiatus among clinicians. The aim of this study was to investigate the differences between landmark readings of gastroscopy on intubation and extubation, and to correlate these readings with a gastro-oesophageal reflux questionnaire. PATIENTS AND METHODS: 116 cases who underwent diagnostic gastroscopy between January 2013 and June 2013 were included in this study...
November 23, 2016: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/27857691/chemotherapy-induced-constipation-and-diarrhea-pathophysiology-current-and-emerging-treatments
#5
REVIEW
Rachel M McQuade, Vanesa Stojanovska, Raquel Abalo, Joel C Bornstein, Kulmira Nurgali
Gastrointestinal (GI) side-effects of chemotherapy are a debilitating and often overlooked clinical hurdle in cancer management. Chemotherapy-induced constipation (CIC) and Diarrhea (CID) present a constant challenge in the efficient and tolerable treatment of cancer and are amongst the primary contributors to dose reductions, delays and cessation of treatment. Although prevalence of CIC is hard to estimate, it is believed to affect approximately 16% of cancer patients, whilst incidence of CID has been estimated to be as high as 80%...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27852360/-changes-and-implications-of-esophageal-function-in-patients-with-chronic-cough-induced-by-gastroesophageal-reflux
#6
X H Xu, L Yu, Q Chen, Y Huang, H H Sun, L S Yi, S C Xu, H J Lyu, Z M Qiu
Objective: To explore the changes in the esophageal function and their association with the therapeutic outcome in patients with gastroesophageal reflux-induced chronic cough (GERC). Methods: One hundred thirty-five patients with definite GERC consecutively referred to our respiratory clinic were recruited into the study between January 2012 and August 2015.Cough was due to acid reflux in 81 patients and non-acid reflux in 54 patients, with the favorable response to the standard antireflux therapy in 88 patients and to the intensified antireflux treatment in 47 patients...
November 12, 2016: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/27851319/1684-severe-gi-dysmotility-associated-with-pheochromocytoma-improved-after-continuous-iv-phentolamine
#7
Laura Siemianowski, Jean-Sebastien Rachoin
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27836825/intestinal-failure-in-children-and-young-people-with-neurodisabling-conditions
#8
REVIEW
Amar M Wahid, Colin V Powell, Ieuan H Davies, Jennifer A Evans, Huw R Jenkins
Gastrointestinal dysmotility is common in children and young people with neurodisabling conditions. In this article we seek to highlight the increasing difficulties faced by paediatricians in managing intestinal failure in this patient group. It is becoming clear that, as the median age for survival increases, intestinal failure is a significant problem, and can in some cases become life-limiting. The ethical issues around starting children with life-limiting conditions on parenteral nutrition (PN) are extremely complicated, not least because we are ignorant of the mechanism of intestinal failure in these children, and indeed, which of these children might be able to return to enteral feeding after a period of PN...
November 11, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27834292/mesenteric-vascular-dysregulation-and-intestinal-inflammation-accompanies-experimental-spinal-cord-injury
#9
Emily M Besecker, Gina M Deiter, Nicole Pironi, Timothy K Cooper, Gregory Michael Holmes
Cervical and high thoracic spinal cord injury (SCI) drastically impairs autonomic nervous system function. Individuals with SCI at thoracic spinal-level 5 (T5) or higher often present cardiovascular disorders that include resting systemic arterial hypotension. Gastrointestinal (GI) tissues are critically dependent upon adequate blood flow and even brief periods of visceral hypoxia triggers GI dysmotility. The aim of this study was to test the hypothesis that T3-SCI induces visceral hypoperfusion, diminished postprandial vascular reflexes and concomitant visceral inflammation...
November 9, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/27831838/clinical-radiologic-correlation-of-extraocular-eye-movement-disorders-seeing-beneath-the-surface
#10
Joshua Thatcher, Yu-Ming Chang, Margaret N Chapman, Keegan Hovis, Akifumi Fujita, Rachel Sobel, Osamu Sakai
Extraocular eye movement disorders are relatively common and may be a significant source of discomfort and morbidity for patients. The presence of restricted eye movement can be detected clinically with quick, easily performed, noninvasive maneuvers that assess medial, lateral, upward, and downward gaze. However, detecting the presence of ocular dysmotility may not be sufficient to pinpoint the exact cause of eye restriction. Imaging plays an important role in excluding, in some cases, and detecting, in others, a specific cause responsible for the clinical presentation...
November 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#11
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27796881/telocytes-new-players-in-gallstone-disease
#12
Artur Pasternak, Krzysztof Gil, Andrzej Matyja
Cholesterol gallstone disease is highly prevalent in Western countries, particularly in women and some specific ethnic groups. The mechanisms behind the formation of gallstones are not clearly understood, but gallbladder dysmotility seems to be a key factor that triggers the precipitation of cholesterol microcrystals from supersaturated lithogenic bile.Given that newly described interstitial cells, telocytes, are present in the gallbladder and they are located in close vicinity of smooth muscle cell and neural fibers possibly interfering with gallbladder motility or contractility, authors are trying to summarize the current knowledge on the role of telocytes with respect to disturbed gallbladder function in gallstone disease...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27779277/persistent-gastro-oesophageal-reflux-symptoms-despite-proton-pump-inhibitor-therapy
#13
Daphne Ang, Choon How How, Tiing Leong Ang
About one-third of patients with suspected gastro-oesophageal reflux disease (GERD) do not respond symptomatically to proton pump inhibitors (PPIs). Many of these patients do not suffer from GERD, but may have underlying functional heartburn or atypical chest pain. Other causes of failure to respond to PPIs include inadequate acid suppression, non-acid reflux, oesophageal hypersensitivity, oesophageal dysmotility and psychological comorbidities. Functional oesophageal tests can exclude cardiac and structural causes, as well as help to confi rm or exclude GERD...
October 2016: Singapore Medical Journal
https://www.readbyqxmd.com/read/27755341/prevalence-of-malnutrition-and-feeding-difficulties-in-children-with-esophageal-atresia
#14
Jessica Menzies, Jennifer Hughes, Steven Leach, Yvonne Belessis, Usha Krishnan
OBJECTIVES: Growth and feeding problems have been described in children with Esophageal Atresia (EA). Ongoing gastrointestinal and respiratory complications such as Gastroesophageal Reflux Disease (GERD), esophageal dysmotility, strictures and respiratory infections may contribute. The aim of the study was to document the prevalence of malnutrition and feeding difficulties and examine predictive factors which may influence feeding and growth in children attending a multidisciplinary EA clinic in Sydney Australia...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27754416/congenital-cataracts-and-gut-dysmotility-in-a-dync1h1-dyneinopathy-patient
#15
Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
https://www.readbyqxmd.com/read/27743770/mitochondrial-neurogastrointestinal-encephalomyopathy-presenting-as-anorexia-nervosa
#16
Francesco Demaria, Franco De Crescenzo, Anna Maria Caramadre, Adele D'Amico, Antonella Diamanti, Fabiana Fattori, Maria Pia Casini, Stefano Vicari
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy on brain magnetic resonance imaging. The disease is clinically heterogeneous with the main symptoms being gastrointestinal, with an important weight loss...
October 12, 2016: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/27738965/how-to-optimally-apply-impedance-in-the-evaluation-of-esophageal-dysmotility
#17
Amit Patel, C Prakash Gyawali
The utilization of impedance technology has enhanced our understanding and assessment of esophageal dysmotility. Esophageal high-resolution manometry (HRM) catheters incorporated with multiple impedance electrodes help assess esophageal bolus transit, and the combination is termed high-resolution impedance manometry (HRIM). Novel metrics have been developed with HRIM-including esophageal impedance integral ratio, bolus flow time, nadir impedance pressure, and impedance bolus height-that augments the assessment of esophageal bolus transit...
November 2016: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/27738822/the-role-of-laryngeal-electromyography-in-vagus-nerve-stimulation-related-vocal-fold-dysmotility
#18
Alberto M Saibene, Elena Zambrelli, Carlotta Pipolo, Alberto Maccari, Giovanni Felisati, Elena Felisati, Francesca Furia, Aglaia Vignoli, Maria Paola Canevini, Enrico Alfonsi
Vagus nerve stimulation (VNS) is a useful tool for drug-resistant epilepsy, but it induces known laryngeal side effects, with a significant role on patients' quality of life. VNS patients may show persistent left vocal fold (LVF) palsy at rest and/or recurrent LVF adduction during stimulation. This study aims at electromyographically evaluating laryngeal muscles abnormalities in VNS patients. We compared endoscopic laryngeal evaluation data in six VNS patients with laryngeal muscle electromyography (LMEMG) carried out on the thyroarytenoid, cricothyroid, posterior cricoarytenoid, and cricopharyngeal muscles...
October 13, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27714760/role-of-oxidative-stress-in-oxaliplatin-induced-enteric-neuropathy-and-colonic-dysmotility-in-mice
#19
Rachel M McQuade, Simona E Carbone, Vanesa Stojanovska, Ahmed Rahman, Rachel M Gwynne, Ainsley M Robinson, Craig A Goodman, Joel C Bornstein, Kulmira Nurgali
BACKGROUND AND PURPOSE: Oxaliplatin is a platinum-based chemotherapeutic drug used as a first-line therapy for colorectal cancer. However, its use is associated with severe gastrointestinal side-effects resulting in dose limitations and/or cessation of treatment. In this study, we tested whether oxidative stress, caused by chronic oxaliplatin treatment, induces enteric neuronal damage and colonic dysmotility. EXPERIMENTAL APPROACH: Oxaliplatin (3 mg·kg(-1) per day) was administered in vivo to Balb/c mice intraperitoneally three times a week...
December 2016: British Journal of Pharmacology
https://www.readbyqxmd.com/read/27709505/a-novel-thymidine-phosphorylase-mutation-in-a-chinese-mngie-patient
#20
Hui-Fang Wang, Juan Wang, Yan-Ling Wang, Jian-Jian Fan, Gui-Lin Mo, Feng-Yin Gong, Zhi-Ming Chai, Jin Zhang, Hua-Xing Meng, Chang-Xin Li, Jun-Hong Guo, Chuan-Qiang Pu
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. We studied the clinical and biochemical characteristics of a family with MNGIE. The proband was a 48-year-old male presenting with diarrhea and progressive weight loss. He also had ptosis and exhibited eyeball fixation...
October 5, 2016: Acta Neurologica Belgica
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