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Dysmotility gastrointestinal disorder

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https://www.readbyqxmd.com/read/28411356/mitochondrial-neurogastrointestinal-encephalomyopathy-syndrome-treated-with-stem-cell-transplant-a-case-series-and-literature-review
#1
Amr Hanbali, Walid Rasheed, Musthafa Chalikandy Peedikayil, Saeed Boholega, Hazza A Alzahrani
Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a rare autosomal recessive multisystem disorder caused by nuclear TYMP gene mutations, which leads to deficiency in thymidine phosphorylase enzyme. This deficiency then leads to mitochondrial dysfunction, which causes the features characteristic of this syndrome, including severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. Here, we present a case series of 3 patients with mitochondrial neurogastrointestinal encephalomyopathy from Saudi Arabia who underwent allogeneic stem cell transplant at King Faisal Specialist Hospital (Riyadh, Saudi Arabia)...
April 14, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#2
J Politei, C Durand, A B Schenone, A Torres, J Mukdsi, B L Thurberg
Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in two unrelated patients with Fabry disease and the possible explanation of a direct relation of these two disorders. In Fabry disease, gastrointestinal symptoms occur in approximately 70% of male patients, but the frequency ranges from 19% to 69% in different series...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28287686/cyproheptadine-a-potentially-effective-treatment-for-functional-gastrointestinal-disorders-in-children
#3
Amornluck Krasaelap, Shailender Madani
Functional gastrointestinal disorders (FGIDs) negatively affect children's quality of life and health care costs. It has been proposed that alteration of gut serotonin leads to gastrointestinal dysmotility, visceral hypersensitivity, altered gastrointestinal secretions, and brain-gut dysfunction. Cyproheptadine, a serotonin antagonist, has been shown to be a potentially effective and safe treatment option in children who meet the clinical criteria for FGIDs. Well-designed multicenter trials with long-term follow-up are needed to further investigate its efficacy...
March 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28243546/l-carnitine-improves-gastrointestinal-disorders-and-altered-the-intestinal-microbiota-in-hemodialysis-patients
#4
Junichiro Irie, Yoshihiko Kanno, Rieko Kikuchi, Tadashi Yoshida, Seizo Murai, Miwako Watanabe, Hiroshi Itoh, Matsuhiko Hayashi
Patients receiving hemodialysis also manifest gastrointestinal symptoms, such as constipation, caused by restriction of water intake and the loss of body water balance. Because dietary carnitine deficiency is considered to cause smooth muscle dysmotility of the gastrointestinal tract similarly to that in skeletal muscles, carnitine deficiency in hemodialysis patients may be one cause of gastrointestinal discomfort and dysfunctions. We performed a multicenter nonrandomized single-arm prospective clinical trial...
2017: Bioscience of Microbiota, Food and Health
https://www.readbyqxmd.com/read/28220362/the-role-of-impedance-planimetry-in-the-evaluation-of-esophageal-disorders
#5
REVIEW
Nitin K Ahuja, John O Clarke
PURPOSE OF REVIEW: Impedance planimetry measures tissue wall distensibility as a function of pressure and cross-sectional area. Recent interest in this technique's relevance to the gastrointestinal tract has been accelerated by the availability of the functional lumen imaging probe, a catheter-based system that dynamically quantitates these biomechanical properties. Herein, we review the device's particular utility in the setting of esophageal pathology, including processes affecting the esophageal body as well as the upper and lower esophageal sphincters...
February 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28191707/mechanisms-underlying-reflux-symptoms-and-dysphagia-in-patients-with-joint-hypermobility-syndrome-with-and-without-postural-tachycardia-syndrome
#6
A Fikree, Q Aziz, D Sifrim
BACKGROUND: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. METHODS: Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment...
February 12, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#7
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28116654/autonomic-neuropathy-in-its-many-guises-as-the-initial-manifestation-of-the-antiphospholipid-syndrome
#8
Jill R Schofield
Autonomic disorders have previously been described in association with the antiphospholipid syndrome. The present study aimed to determine the clinical phenotype of patients in whom autonomic dysfunction was the initial manifestation of the antiphospholipid syndrome and to evaluate for autonomic neuropathy in these patients. This was a retrospective study of 22 patients evaluated at the University of Colorado who were found to have a disorder of the autonomic nervous system as the initial manifestation of antiphospholipid syndrome...
January 24, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28078679/diet-induced-dysmotility-and-neuropathy-in-the-gut-precedes-endotoxaemia-and-metabolic-syndrome-the-chicken-and-the-egg-revisited
#9
Yvonne Elikplim Akua Nyavor, Onesmo Begira Balemba
No abstract text is available yet for this article.
March 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28004474/gastrointestinal-dysmotility-and-pancreatic-insufficiency-in-2-siblings-with-donohue-syndrome
#10
Eirini Kostopoulou, Pratik Shah, Noman Ahmad, Robert Semple, Khalid Hussain
Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. We report 2 siblings with Donohue syndrome (cases 1, 2) with multiple clinical and biochemical characteristics. Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial hyperglycaemia...
December 22, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27834292/mesenteric-vascular-dysregulation-and-intestinal-inflammation-accompanies-experimental-spinal-cord-injury
#11
Emily M Besecker, Gina M Deiter, Nicole Pironi, Timothy K Cooper, Gregory M 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...
January 1, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/27743770/mitochondrial-neurogastrointestinal-encephalomyopathy-presenting-as-anorexia-nervosa
#12
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/27709505/a-novel-thymidine-phosphorylase-mutation-in-a-chinese-mngie-patient
#13
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...
March 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27613260/esophageal-motor-abnormalities-in-patients-with-scleroderma-%C3%A2-heterogeneity-risk-factors-and-effects-on-quality%C3%A2-of-life
#14
Michael D Crowell, Sarah B Umar, W Leroy Griffing, John K DiBaise, Brian E Lacy, Marcelo F Vela
BACKGROUND & AIMS: Systemic scleroderma (SSc) is associated with esophageal aperistalsis and hypotensive esophagogastric junction pressure, although there could be a gradation in esophageal motor dysfunction. We characterized esophageal motor function by high-resolution esophageal manometry (HRM) and assessed associations between SSc severity, health-related quality of life (HRQOL), and HRM findings in patients. METHODS: We performed a prospective study of 200 patients with SSc and 102 patients without SSc (controls) who underwent HRM at Mayo Clinic Arizona from May 2006 through January 2015...
February 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27552331/gastrointestinal-dysmotility-in-the-elderly
#15
Neelam G Gidwaney, Manisha Bajpai, Sita S Chokhavatia
The number of persons 60 years and older has increased 3-fold between 1950 and 2000. Aging alone does not greatly impact the gastrointestinal (GI) tract. Digestive dysfunction, including esophageal reflux, achalasia, dysphagia, dyspepsia, delayed gastric emptying, constipation, fecal incontinence, and fecal impaction, is a result of the highly prevalent comorbid conditions and the medications with which those conditions are treated. A multidisciplinary approach with the expertise of a geriatrician, gastroenterologist, neurologist, speech pathologist, and physical therapist ensures a comprehensive functional and neurological assessment of the older patient...
November 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27446985/intestinal-dysbiosis-contributes-to-the-delayed-gastrointestinal-transit-in-high-fat-diet-fed-mice
#16
Mallappa Anitha, François Reichardt, Sahar Tabatabavakili, Behtash Ghazi Nezami, Benoit Chassaing, Simon Mwangi, Matam Vijay-Kumar, Andrew Gewirtz, Shanthi Srinivasan
BACKGROUND & AIMS: High-fat diet (HFD) feeding is associated with gastrointestinal motility disorders. We recently reported delayed colonic motility in mice fed a HFD mice for 11 weeks. In this study, we investigated the contributing role of gut microbiota in HFD-induced gut dysmotility. METHODS: Male C57BL/6 mice were fed a HFD (60% kcal fat) or a regular/control diet (RD) (18% kcal fat) for 13 weeks. Serum and fecal endotoxin levels were measured, and relative amounts of specific gut bacteria in the feces assessed by real time PCR...
May 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27444283/radionuclide-esophageal-transit-scintigraphy-in-primary-hypothyroidism
#17
Shoukat H Khan, Madhu Vijay P, Tanveer A Rather, Bashir A Laway
Background/Aims: Esophageal dysmotility is associated with gastrointestinal dysmotility in various systemic and neuroregulatory disorders. Hypothyroidism has been reported to be associated with impaired motor function in esophagus due to accumulation of glycosaminoglycan hyaluronic acid in its soft tissues, leading to changes in various contraction and relaxation parameters of esophagus, particularly in the lower esophageal sphincter. In this study we evaluated esophageal transit times in patients of primary hypothyroidism using the technique of radionuclide esophageal transit scintigraphy...
January 30, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/27377071/retention-during-capsule-endoscopy-is-it-a-real-problem-in-routine-practice
#18
Asli Cifcibasi Ormeci, Filiz Akyuz, Bulent Baran, Suut Gokturk, Tugrul Ormeci, Binnur Pinarbasi, Ozlem Mutluay Soyer, Sami Evirgen, Umit Akyuz, Cetin Karaca, Kadir Demir, Sabahattin Kaymakoglu, Fatih Besisik
OBJECTIVE: This study evaluated the risks and outcomes of capsule retention during capsule endoscopy (CE) for investigating small bowel disease. Capsule retention is the most serious complication of CE. METHODS: Before CE, the gastrointestinal tract was evaluated for blockages with computerized tomography. Analysis of CE was made retrospectively. RESULTS: Capsule endoscopy was used to investigate obscure bleeding (90.2%; n = 324) or other symptoms (9...
August 2016: Journal of International Medical Research
https://www.readbyqxmd.com/read/27366228/understanding-the-gastrointestinal-manifestations-of-fabry-disease-promoting-prompt-diagnosis
#19
REVIEW
Claire Zar-Kessler, Amel Karaa, Katherine Bustin Sims, Virginia Clarke, Braden Kuo
Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation...
July 2016: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/27345626/hesperidin-alleviates-rat-postoperative-ileus-through-anti-inflammation-and-stimulation-of-ca-2-dependent-myosin-phosphorylation
#20
Yong-Jian Xiong, Hong-Wei Chu, Yuan Lin, Fang Han, Ya-Chan Li, Ai-Guo Wang, Fu-Jin Wang, Da-Peng Chen, Jing-Yu Wang
AIM: Postoperative ileus (POI) is a postoperative dysmotility disorder of gastrointestinal tract, which remains one of the most perplexing problems in medicine. In the present study we investigated the effects of hesperidin, a major flavonoid in sweet oranges and lemons, on POI in rats. METHODS: SD rats were administered hesperidin (5, 20, and 80 mg·kg(-1)·d(-1), ig) for 3 consecutive days. POI operation (gently manipulating the cecum for 1 min) was performed on d 2...
August 2016: Acta Pharmacologica Sinica
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