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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
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
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
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
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
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/d) was administered in vivo to Balb/c mice intraperitoneally three times a week...
October 7, 2016: British Journal of Pharmacology
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
Marie Szymanowski, Maria Salomon Estebanez, Raja Padidela, Bing Han, Karolina Mosinska, Adam Stevens, Lena Damaj, Florence Pihan-Le Bars, Emilie Lascouts, Rachel Reynaud, Catherine Ferreira, Claire Bansept, Pascale de Lonlay, Cécile Saint-Martin, Mark J Dunne, Indraneel Banerjee, Jean-Baptiste Arnoux
CONTEXT: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates and infants. In medically unresponsive CHI, subtotal pancreatectomy is performed to achieve euglycaemia with consequent diabetes in later life. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor has been reported to obviate the need for pancreatectomy, but experience is limited. OBJECTIVE: We have investigated the efficacy and adverse effect profile of mTOR inhibitors in the treatment of severe CHI...
October 3, 2016: Journal of Clinical Endocrinology and Metabolism
Irina Sedykh, Jessica J TeSlaa, Rose L Tatarsky, Abigail N Keller, Kimberly A Toops, Aparna Lakkaraju, Molly K Nyholm, Marc A Wolman, Yevgenya Grinblat
Cilia are cell surface organelles with key roles in a range of cellular processes, including generation of fluid flow by motile cilia. The axonemes of motile cilia and immotile kinocilia contain 9 peripheral microtubule doublets, a central microtubule pair, and 9 connecting radial spokes. Aberrant radial spoke components RSPH1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characterized by ciliary dysmotility; yet, radial spoke functions remain unclear. Here we show that zebrafish Rsph9 is expressed in cells bearing motile cilia and kinocilia, and localizes to both 9 + 2 and 9 + 0 ciliary axonemes...
September 30, 2016: Scientific Reports
Agostino Di Ciaula, Ignazio Grattagliano, Piero Portincasa
AIM: To perform a comprehensive study on gastrointestinal symptoms, motility and autonomic neuropathyin chronic alcoholics before and one year after abstinence. METHODS: Dyspeptic symptoms (questionnaires), fasting and postprandial gallbladder and gastric motility (ultrasonography), oro-cecal transit time (lactulose H2 -breath test), stool form score (indirect marker of colonic transit), and autonomic neuropathy (sweat spot test, R-R ratio) were assessed at baselinein 268subjects (136chronic alcoholics,132healthy controls)...
September 29, 2016: Journal of Digestive Diseases
G Di Nardo, C Di Lorenzo, A Lauro, V Stanghellini, N Thapar, T B Karunaratne, U Volta, R De Giorgio
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) represents the most severe form of gastrointestinal dysmotility with debilitating and potentially lethal consequences. Symptoms can be non-specific, and result in this condition being diagnosed incorrectly or too late with consequences for morbidity and even mortality. PURPOSE: The present article aims to provide pediatric and adult gastroenterologists with an up to date review about clinical features, diagnosis and therapeutic options for CIPO...
September 29, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Sei-Ichi Nakano, Hidetaka Iwasaki, Eiji Kondo, Katsushi Miyazaki, Haruhiko Shizuku, Sei-Ichiro Kamimura, Junya Fukuda, Ryo Kanamura, Noriaki Takeda
OBJECTIVE: Globus pharyngeus (GP) is a common symptom of laryngopharyngeal reflux disease (LPRD), and proton pump inhibitor (PPI) and rikkunshito, a traditional Japanese medicine having prokinetic effect improve LPRD symptoms. In the present study, we examined the efficacy of high-dose PPI in combination with rikkunshito in patients complaining of GP. METHODS: 106 patients complaining of GP without any organic endoscopic findings were enrolled. RESULTS: Patients were first administrated with high-dose PPI alone for 4 to 8 weeks and the symptom was improved in 65 patients...
2016: Journal of Medical Investigation: JMI
Geraldo E Vicentini, Luciane Fracaro, Sara R G de Souza, Heber A Martins, Flávia A Guarnier, Jacqueline N Zanoni
Gastrointestinal dysmotility frequently occurs in cancer cachexia and may result from damage to enteric innervation caused by oxidative stress, especially due to glutathione depletion. We assessed the effect of dietary supplementation with 20 g/kg l-glutamine (a glutathione precursor) on the intrinsic innervation of the enteric nervous system in healthy and Walker 256 tumor-bearing Wistar rats during the development of experimental cachexia (14 days), in comparison with non-supplemented rats, by using immunohistochemical methods and Western blotting...
2016: PloS One
Y-R Yim, K-E Lee, D-J Park, S-H Kim, S-S Nah, J H Lee, S-K Kim, Y-A Lee, S-J Hong, H-S Kim, H-S Lee, H A Kim, C-I Joung, S-H Kim, S-S Lee
BACKGROUND: Patients with fibromyalgia (FM) exhibit significant clinical heterogeneity, in terms of physical, social and psychological functions, as well as therapeutic responses. Here, we examined FM patients in terms of pain, physical, social and psychological variables to identify clinical subgroups that may be predictive of treatment patterns. METHODS: A total of 313 FM patients were interviewed using a structured questionnaire that included sociodemographic data, current or past FM symptoms and current use of relevant medications...
September 15, 2016: European Journal of Pain: EJP
Christina Brock, Birgitte Brock, Anne Grave Pedersen, Asbjørn Mohr Drewes, Niels Jessen, Adam D Farmer
The global prevalence of diabetes mellitus is increasing; arguably as a consequence of changes in diet, lifestyle and the trend towards urbanization. Unsurprisingly, the incidence of both micro and macrovascular complications of diabetes mirrors this increasing prevalence. Amongst the complications with the highest symptom burden, yet frequently under-diagnosed and sub-optimally treated, is diabetic autonomic neuropathy, itself potentially resulting in cardiovascular autonomic neuropathy and gastrointestinal (GI) tract dysmotility...
August 25, 2016: World Journal of Diabetes
K Verónica Chavez, E Manuel Barajas, Jaqueline Ramírez, Juan Pablo Pantoja, Mauricio Sierra, David Velázquez-Fernandez, Miguel F Herrera
BACKGROUND: Advanced bipolar and ultrasonic devices have shown significant reduction in the surgical time of thyroid operations. This randomized, controlled trial assessed if operative time and other relevant outcomes are different for thyroidectomies performed either with a second-generation advanced bipolar device or traditional tie and suture technique. METHODS: Forty-one patients were randomized into 2 groups (advanced bipolar device and traditional tie and suture)...
September 7, 2016: Surgery
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 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 the Mayo Clinic Arizona Rheumatology Scleroderma Clinic for esophageal manometry, from May 2006 through January 2015...
September 6, 2016: Clinical Gastroenterology and Hepatology
Liuqin Jiang, Bixing Ye, Ying Wang, Meifeng Wang, Lin Lin
Background/Aims: Little data exists about esophageal body dysmotility and reflux patterns in refractory gastroesophageal reflux disease (RGERD) patients off therapy. We aimed to evaluate effects of esophageal body dysmotility on reflux parameters in RGERD patients by combining impedance-pH monitoring and high-resolution manometry (HRM). Methods: We retrospectively reviewed the impedance-pH data and HRM metrics in patients with refractory gastroesophageal reflux symptoms...
September 6, 2016: Journal of Neurogastroenterology and Motility
Marcus M Unger, Jörg Spiegel, Klaus-Ulrich Dillmann, David Grundmann, Hannah Philippeit, Jan Bürmann, Klaus Faßbender, Andreas Schwiertz, Karl-Herbert Schäfer
BACKGROUND: Patients with Parkinson's disease (PD) frequently have gastrointestinal symptoms (e.g. constipation) and exhibit the PD-typical pathohistology in the enteric nervous system (ENS). Both, clinical symptoms and pathohistological changes in the ENS occur at early stages and can precede the motor manifestations of PD. Two recent studies reported an association between changes in gut microbiota composition and PD. We hypothesized that alterations in gut microbiota might be accompanied by altered concentrations of short chain fatty acids (SCFA), one main metabolic product of gut bacteria...
August 26, 2016: Parkinsonism & related Disorders
Michael Sorrell, Alvaro Moreira, Kay Green, Rachel Jacobs, Robin Tragus, Laura Keller, Amy Quinn, Donald McCurnin, Alice Gong, Abeer El Sakka, Naveen Mittal, Cynthia Blanco
OBJECTIVES: To study the acute and long-term outcomes of preterm infants treated with an intravenous (IV) fish oil-based lipid emulsion (FishLE) for parenteral nutrition-associated liver disease (PNALD). METHODS: Preterm infants 14 days to 24 months of age with anatomic short gut or severe intestinal dysmotility, serum direct bilirubin ≥4 mg/dL, and requiring >60% calories from PN were eligible. Enrolled infants received 1 g/kg/day of FishLE until resolution of direct hyperbilirubinemia or return of enteral nutrition...
August 27, 2016: Journal of Pediatric Gastroenterology and Nutrition
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