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Dysmotility gastrointestinal disorder

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https://www.readbyqxmd.com/read/29429536/are-patients-affected-by-mitochondrial-disorders-at-nutritional-risk
#1
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/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#2
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
#3
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/29297596/neuropathology-of-autonomic-dysfunction-in-synucleinopathies
#4
REVIEW
Elizabeth A Coon, Jeremy K Cutsforth-Gregory, Eduardo E Benarroch
The synucleinopathies-Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure-result from distinct patterns of abnormal α-synuclein aggregation throughout the nervous system. Autonomic dysfunction in these disorders results from variable involvement of the central and peripheral autonomic networks. The major pathologic hallmark of Parkinson's disease and dementia with Lewy bodies is Lewy bodies and Lewy neurites; of multiple system atrophy, oligodendroglial cytoplasmic inclusions; and of pure autonomic failure, peripheral neuronal cytoplasmic inclusions...
January 3, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29243034/application-of-pyridostigmine-in-pediatric-gastrointestinal-motility-disorders-a-case-series
#5
Mhd Louai Manini, Michael Camilleri, Rayna Grothe, Carlo Di Lorenzo
BACKGROUND: Gastrointestinal (GI) motility disorders are common in children. Treatment is challenging with limited medical and surgical options. Pyridostigmine, an acetyl cholinesterase inhibitor, increases acetylcholine at the neuromuscular junction promoting intestinal contractions. Little is known about the role and dosing of pyridostigmine in pediatric GI motility disorders. METHODS: We present a case series of children with GI dysmotility managed with oral pyridostigmine...
December 14, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/29205691/intravenous-immunoglobulin-in-drug-and-device-refractory-patients-with-the-symptoms-of-gastroparesis-an-open-label-study
#6
M Ashat, A Lewis, H Liaquat, A Stocker, L McElmurray, V Vedanarayanan, K Soota, T Howell, A Kedar, J Obert, T L Abell
BACKGROUND: Gastroparesis is a complex clinical entity; many aspects of which remain unknown. Although most patients have idiopathic, diabetic, or postsurgical gastroparesis, many are thought to have measurable neuromuscular abnormalities. Immunotherapy has recently been utilized to treat suspected autoimmune gastrointestinal dysmotility. METHODS: Fourteen patients with symptoms of gastroparesis (Gp) who were refractory to drug/device were selected from 443 Gp patients from 2013 to 2015 who were treated at the University of Louisville motility center...
December 4, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29177065/patients-with-symptoms-of-delayed-gastric-emptying-have-a-high-prevalence-of-oesophageal-dysmotility-irrespective-of-scintigraphic-evidence-of-gastroparesis
#7
George Triadafilopoulos, Linda Nguyen, John O Clarke
Background: Patients with symptoms suggestive of gastroparesis exhibit several symptoms, such as epigastric pain, postprandial fullness, bloating and regurgitation. It is uncertain if such symptoms reflect underlying oesophageal motor disorder. Aims: To examine whether patients with epigastric pain and postprandial distress syndrome suggestive of functional dyspepsia and/or gastroparesis also have concomitant oesophageal motility abnormalities and, if so, whether there are any associations between these disturbances...
2017: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/28803389/gastrointestinal-manifestations-of-stat3-deficient-hyper-ige-syndrome
#8
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
https://www.readbyqxmd.com/read/28765176/transient-clinical-improvement-of-a-mitochondrial-neurogastrointestinal-encephalomyopathy-like-syndrome-after-allogeneic-haematopoietic-stem-cell-transplantation
#9
Malcolm Kevin Baker, Clara Maria Schutte, Neelay Ranchhod, David Brittain, J E van Rensburg
Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT)...
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28755521/antibiotic-induced-dysbiosis-of-the-microbiota-impairs-gut-neuromuscular-function-in-juvenile-mice
#10
Valentina Caputi, Ilaria Marsilio, Viviana Filpa, Silvia Cerantola, Genny Orso, Michela Bistoletti, Nicola Paccagnella, Sara De Martin, Monica Montopoli, Stefano Dall'Acqua, Francesca Crema, Iole-Maria Di Gangi, Francesca Galuppini, Isabella Lante, Sara Bogialli, Massimo Rugge, Patrizia Debetto, Cristina Giaroni, Maria Cecilia Giron
BACKGROUND AND PURPOSE: Gut microbiota is essential for the development of the gastrointestinal system, including the enteric nervous system (ENS). Perturbations of gut microbiota in early life have the potential to alter neurodevelopment leading to functional bowel disorders later in life. We examined the hypothesis that gut dysbiosis impairs the structural and functional integrity of the ENS, leading to gut dysmotility in juvenile mice. EXPERIMENTAL APPROACH: To induce gut dysbiosis, broad-spectrum antibiotics were administered by gavage to juvenile (3weeks old) male C57Bl/6 mice for 14 days...
October 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28746079/distribution-of-esophageal-motor-disorders-in-diabetic-patients-with-dysphagia
#11
Nina S George, Vikram Rangan, Zhuo Geng, Freeha Khan, Adam Kichler, Scott Gabbard, Stephen Ganocy, Ronnie Fass
BACKGROUND: Diabetes mellitus can cause various gastrointestinal symptoms. Assessment of esophageal dysmotility in diabetic patients has been scarcely studied. The aim of this study was to determine the esophageal motor characteristics of diabetic versus nondiabetic patients who present with dysphagia. METHODS: High-resolution esophageal manometries (HREMs) of 83 diabetic patients and 83 age and gender-matched nondiabetic patients with dysphagia from 2 medical centers were included in this study...
July 25, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28710145/a-systematic-review-of-the-effects-of-polyols-on-gastrointestinal-health-and-irritable-bowel-syndrome
#12
REVIEW
Adrienne Lenhart, William D Chey
Polyols are sugar alcohols found in certain fruits, vegetables, and sugar-free sweeteners. They make up a component of the diet low in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols, which is gaining popularity in the treatment of patients with irritable bowel syndrome (IBS). We conducted a systematic review to evaluate the effects of polyols on the gastrointestinal tract in healthy men and women and in patients with IBS. Utilizing PubMed, Ovid, and Embase databases, we conducted a search on individual polyols and each of these terms: fermentation, absorption, motility, permeability, and gastrointestinal symptoms...
July 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28705931/proof-of-concept-design-and-initial-evaluation-of-a-new-device-to-measure-gastrointestinal-transit-time
#13
Robert H Wagner, Bital Savir-Baruch, James Halama, Mukund Venu, Medhat Gabriel, Davide Bova
Chronic constipation and gastrointestinal motility disorders constitute a large part of a gastroenterology practice and represent a significant impact on patient quality of life and lifestyle. In most cases, medications are prescribed to alleviate symptoms without an objective measurement of response. Commonly used current investigations of gastrointestinal transit times are limited to radiopaque markers or electronic capsules. Repeated use of these techniques is limited due to radiation exposure or the significant cost of the devices...
July 13, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/28671186/transplantation-of-enteric-nervous-system-stem-cells-rescues-nitric-oxide-synthase-deficient-mouse-colon
#14
Conor J McCann, Julie E Cooper, Dipa Natarajan, Benjamin Jevans, Laura E Burnett, Alan J Burns, Nikhil Thapar
Enteric nervous system neuropathy causes a wide range of severe gut motility disorders. Cell replacement of lost neurons using enteric neural stem cells (ENSC) is a possible therapy for these life-limiting disorders. Here we show rescue of gut motility after ENSC transplantation in a mouse model of human enteric neuropathy, the neuronal nitric oxide synthase (nNOS(-/-)) deficient mouse model, which displays slow transit in the colon. We further show that transplantation of ENSC into the colon rescues impaired colonic motility with formation of extensive networks of transplanted cells, including the development of nNOS(+) neurons and subsequent restoration of nitrergic responses...
July 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28620980/case-of-autoimmune-autonomic-ganglionopathy-manifesting-anhidrosis
#15
Asuka Yoshifuku, Koichi Yoneda, Yusuke Sakiyama, Osamu Higuchi, Shunya Nakane, Takuro Kanekura
Autoimmune autonomic ganglionopathy (AAG), clinically characterized by gastrointestinal dysmotility, orthostatic hypotension and tonic pupils, is an idiopathic acquired disorder of the autonomic nervous system elicited by antibodies against ganglionic acetylcholine receptor (gAChR). We encountered a 60-year-old man who presented with severe anhidrosis, difficulty in thermoregulation, orthostatic hypotension, gastrointestinal dysmotility, tonic pupils and ptosis. Histologically, an anhidrotic skin sample was normal...
June 16, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28584525/gastrointestinal-motility-disorders-and-their-clinical-implications-in-cirrhosis
#16
REVIEW
Eleni Theocharidou, Ameet Dhar, David Patch
Gastrointestinal motility is impaired in a substantial proportion of patients with cirrhosis. Cirrhosis-related autonomic neuropathy, increased nitric oxide production, and gut hormonal changes have been implicated. Oesophageal dysmotility has been associated with increased frequency of abnormal gastro-oesophageal reflux. Impaired gastric emptying and accommodation may result in early satiety and may have an impact on the nutritional status of these patients. Small intestinal dysmotility might be implicated in small intestinal bacterial overgrowth and increased bacterial translocation...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28463855/noncardiac-chest-pain-diagnosis-and-management
#17
Takahisa Yamasaki, Ronnie Fass
PURPOSE OF REVIEW: Noncardiac chest pain (NCCP) has been defined as recurrent chest pain that is indistinguishable from ischemic heart pain after excluding a cardiac cause. NCCP is a common and highly challenging clinical problem in Gastrointestinal practice that requires targeted diagnostic assessment to identify the underlying cause of the symptoms. Treatment is tailored according to the cause of NCCP: gastroesophageal reflux disease (GERD), esophageal dysmotility or functional chest pain...
July 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28411356/mitochondrial-neurogastrointestinal-encephalomyopathy-syndrome-treated-with-stem-cell-transplant-a-case-series-and-literature-review
#18
Amr Hanbali, Walid Rasheed, Musthafa Chalikandy Peedikayil, Saeed Bohlega, 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
#19
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
#20
REVIEW
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
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