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Microvillus inclusion disease

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https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#1
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28882893/kinetic-signatures-of-myosin-5b-the-motor-involved-in-microvillus-inclusion-disease
#2
Sarah M Heissler, Krishna Chinthalapudi, James R Sellers
Myosin-5B is a ubiquitous molecular motor that transports cargo vesicles of the endomembrane system in intracellular recycling pathways. Myosin-5B malfunction causes the congenital enteropathy microvillus inclusion disease, underlining its importance in cellular homeostasis. Here we describe the interaction of myosin-5B with F-actin, nucleotides, and the pyrazolopyrimidine compound myoVin-1. We show that single-headed myosin-5B is an intermediate duty ratio motor with a kinetic ATPase cycle that is rate-limited by the release of phosphate...
September 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28842815/congenital-fatal-diarrhea-in-newborns
#3
Swapna Lingaldinna, Mangala Bharathi Sundaram, C N Kamalarathnam, Sumathi Bavanandam
Microvillus inclusion disease is a rare autosomal recessive disorder of intestinal epithelium causing intractable secretary diarrhea in the first two months of life and about 140 cases have been reported worldwide till now. Here authors report 2 cases of Microvillus inclusion disease (MVID) diagnosed in neonates by electron microscopy study of small intestinal biopsy.
August 26, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28724787/disrupted-apical-exocytosis-of-cargo-vesicles-causes-enteropathy-in-fhl5-patients-with-munc18-2-mutations
#4
Georg F Vogel, Jorik M van Rijn, Iris M Krainer, Andreas R Janecke, Carsten Posovzsky, Marta Cohen, Claire Searle, Prevost Jantchou, Johanna C Escher, Natalie Patey, Ernest Cutz, Thomas Müller, Sabine Middendorp, Michael W Hess, Lukas A Huber
Familial hemophagocytic lymphohistiocytosis 5 (FHL5) is an autosomal recessive disease caused by mutations in STXBP2, coding for Munc18-2, which is required for SNARE-mediated membrane fusion. FHL5 causes hematologic and gastrointestinal symptoms characterized by chronic enteropathy that is reminiscent of microvillus inclusion disease (MVID). However, the molecular pathophysiology of FHL5-associated diarrhea is poorly understood. Five FHL5 patients, including four previously unreported patients, were studied...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28407399/abnormal-rab11-rab8-vesicles-cluster-in-enterocytes-of-patients-with-microvillus-inclusion-disease
#5
Georg F Vogel, Andreas R Janecke, Iris M Krainer, Karin Gutleben, Barbara Witting, Sally G Mitton, Sahar Mansour, Antje Ballauff, Joseph T Roland, Amy C Engevik, Ernest Cutz, Thomas Müller, James R Goldenring, Lukas A Huber, Michael W Hess
Microvillus inclusion disease (MVID) is a congenital enteropathy characterized by accumulation of vesiculo-tubular endomembranes in the subapical cytoplasm of enterocytes, historically termed "secretory granules." However, neither their identity nor pathophysiological significance is well defined. Using immunoelectron microscopy and tomography, we studied biopsies from MVID patients (3× Myosin 5b mutations and 1× Syntaxin3 mutation) and compared them to controls and genome-edited CaCo2 cell models, harboring relevant mutations...
July 2017: Traffic
https://www.readbyqxmd.com/read/28264818/trafficking-ion-transporters-to-the-apical-membrane-of-polarized-intestinal-enterocytes
#6
Amy Christine Engevik, James R Goldenring
Epithelial cells lining the gastrointestinal tract require distinct apical and basolateral domains to function properly. Trafficking and insertion of enzymes and transporters into the apical brush border of intestinal epithelial cells is essential for effective digestion and absorption of nutrients. Specific critical ion transporters are delivered to the apical brush border to facilitate fluid and electrolyte uptake. Maintenance of these apical transporters requires both targeted delivery and regulated membrane recycling...
March 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28174707/new-mouse-models-for-microvillus-inclusion-disease-mvid-where-do-the-inclusions-come-from-and-are-they-cause-or%C3%A2-consequence
#7
EDITORIAL
Lukas A Huber
No abstract text is available yet for this article.
March 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28027573/defects-in-myosin-vb-are-associated-with-a-spectrum-of-previously-undiagnosed-low-%C3%AE-glutamyltransferase-cholestasis
#8
Yi-Ling Qiu, Jing-Yu Gong, Jia-Yan Feng, Ren-Xue Wang, Jun Han, Teng Liu, Yi Lu, Li-Ting Li, Mei-Hong Zhang, Jonathan A Sheps, Neng-Li Wang, Yan-Yan Yan, Jia-Qi Li, Lian Chen, Christoph H Borchers, Bence Sipos, A S Knisely, Victor Ling, Qing-He Xing, Jian-She Wang
Hereditary cholestasis in childhood and infancy with normal serum gamma-glutamyltransferase (GGT) activity is linked to several genes. Many patients, however, remain genetically undiagnosed. Defects in myosin VB (MYO5B; encoded by MYO5B) cause microvillus inclusion disease (MVID; MIM251850) with recurrent watery diarrhea. Cholestasis, reported as an atypical presentation in MVID, has been considered a side effect of parenteral alimentation. Here, however, we report on 10 patients who experienced cholestasis associated with biallelic, or suspected biallelic, mutations in MYO5B and who had neither recurrent diarrhea nor received parenteral alimentation...
May 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27984607/-phenotypic-and-genetic-analysis-of-a-family-affected-with-microvillus-inclusion-disease
#9
Man Mao, Li Guo, Zhanhui Zhang, Bin Wang, Shanhua Huang, Yuanzong Song, Fengping Chen, Wangrong Wen
OBJECTIVE: To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease. METHODS: Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene. RESULTS: The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27933652/nonobstructive-diffuse-dilated-bowel-loops-prenatal-diagnosis-fetal-characteristics-and-neonatal-outcomes
#10
Guy Katz, Ben Pode-Shakked, Michal Berkenstadt, Ron Bilik, Sylvie Polak Charcon, Iris Barshack, Reuven Achiron, Yinon Gilboa
OBJECTIVES: The purpose of this study was to describe the characteristics and outcomes of fetuses with a diagnosis of nonobstructive diffuse dilated bowel loops. METHODS: We conducted a retrospective study of all pregnancies with fetal diagnosis of nonobstructive diffuse dilated bowel loops over 14 years in a large tertiary referral center. Fetomaternal and neonatal characteristics and outcomes were assessed. RESULTS: Seven fetuses had sonograms showing diffuse dilated bowel loops; none of them had intestinal obstruction after labor...
January 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27575604/congenital-microvillus-inclusion-disease-in-the-differential-diagnosis-of-intractable-metabolic-acidosis
#11
Nilufer Guzoglu, Didem Aliefendioglu, Fulya Gulerman, Safak Gucer, Figen Kaymaz
No abstract text is available yet for this article.
June 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27532546/myo5b-mutations-cause-cholestasis-with-normal-serum-gamma-glutamyl-transferase-activity-in-children-without-microvillous-inclusion-disease
#12
Emmanuel Gonzales, Sarah A Taylor, Anne Davit-Spraul, Alice Thébaut, Nadège Thomassin, Catherine Guettier, Peter F Whitington, Emmanuel Jacquemin
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease...
January 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27497746/the-zebrafish-goosepimples-myosin-vb-mutant-exhibits-cellular-attributes-of-human-microvillus-inclusion-disease
#13
Jaydeep Sidhaye, Clyde Savio Pinto, Shweta Dharap, Tressa Jacob, Shobha Bhargava, Mahendra Sonawane
Microvillus inclusion disease (MVID) is a life-threatening enteropathy characterised by malabsorption and incapacitating fluid loss due to chronic diarrhoea. Histological analysis has revealed that enterocytes in MVID patients exhibit reduction of microvilli, presence of microvillus inclusion bodies and intestinal villus atrophy, whereas genetic linkage analysis has identified mutations in myosin Vb gene as the main cause of MVID. In order to understand the cellular basis of MVID and the associated formation of inclusion bodies, an animal model that develops ex utero and is tractable genetically as well as by microscopy would be highly useful...
November 2016: Mechanisms of Development
https://www.readbyqxmd.com/read/27488325/catheter-related-blood-stream-infection-in-patients-receiving-long-term-home-parenteral-nutrition-tertiary-care-hospital-experience-in-saudi-arabia
#14
Esraa S Al-Tawil, Alanoud M Almuhareb, Hamdy M Amin
BACKGROUND/AIM: Parenteral nutrition (PN) is a lifesaving therapy for patients with many severe conditions, including intestinal failure. Some patients require long-term PN therapy, which makes home parenteral nutrition (HPN) an attractive option to improve the quality of life. Among the most common and serious complications observed in these patients are catheter-related blood stream infections (CRBSIs). The aim of our study is to determine the frequency of CRBSI among patients receiving long-term HPN...
July 2016: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/27477384/microvillus-inclusion-disease-a-subtotal-enterectomy-as-a-bridge-to-transplantation
#15
Karen van Hoeve, Ilse Hoffman, Fabio Fusaro, Jacques Pirenne, Ann Vander Auwera, Anne-Marie Dieltjens, Gert De Hertogh, Diethard Monbaliu, Marc Miserez
BACKGROUND: Microvillus inclusion disease (MVID) is a known congenital cause of intractable diarrhea resulting in permanent intestinal failure. There is need for a lifelong total parenteral nutrition (TPN) from diagnosis and the prognosis is poor. Most patients die by the second decade of life as a result of complications of parenteral alimentation including liver failure or sepsis. The only available treatment at this moment is a small bowel transplantation. But before that moment, the patients often suffer from a persistent failure to thrive and electrolyte disturbances despite continuous TPN...
December 2016: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/27229121/identification-of-intestinal-ion-transport-defects-in-microvillus-inclusion-disease
#16
Dmitri V Kravtsov, Md Kaimul Ahsan, Vandana Kumari, Sven C D van Ijzendoorn, Miguel Reyes-Mugica, Anoop Kumar, Tarunmeet Gujral, Pradeep K Dudeja, Nadia A Ameen
Loss of function mutations in the actin motor myosin Vb (Myo5b) lead to microvillus inclusion disease (MVID) and death in newborns and children. MVID results in secretory diarrhea, brush border (BB) defects, villus atrophy, and microvillus inclusions (MVIs) in enterocytes. How loss of Myo5b results in increased stool loss of chloride (Cl(-)) and sodium (Na(+)) is unknown. The present study used Myo5b loss-of-function human MVID intestine, polarized intestinal cell models of secretory crypt (T84) and villus resembling (CaCo2BBe, C2BBe) enterocytes lacking Myo5b in conjunction with immunofluorescence confocal stimulated emission depletion (gSTED) imaging, immunohistochemical staining, transmission electron microscopy, shRNA silencing, immunoblots, and electrophysiological approaches to examine the distribution, expression, and function of the major BB ion transporters NHE3 (Na(+)), CFTR (Cl(-)), and SLC26A3 (DRA) (Cl(-)/HCO3 (-)) that control intestinal fluid transport...
July 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27019864/loss-of-myo5b-in-mice-recapitulates-microvillus-inclusion-disease-and-reveals-an-apical-trafficking-pathway-distinct-to-neonatal-duodenum
#17
Victoria G Weis, Byron C Knowles, Eunyoung Choi, Anna E Goldstein, Janice A Williams, Elizabeth H Manning, Joseph T Roland, Lynne A Lapierre, James R Goldenring
BACKGROUND AND AIMS: Inactivating mutations in MYO5B cause severe neonatal diarrhea in Microvillus Inclusion Disease. Loss of active MYO5B causes the formation of pathognomonic inclusions and aberrations in brush border enzymes. METHODS: We developed three mouse models of germline, constitutively intestinal targeted and inducible intestinal targeted deletion of MYO5B. The mice were evaluated for enterocyte cellular morphology. RESULTS: Germline MYO5B KO mice showed early diarrhea and failure to thrive with evident microvillus inclusions and loss of apical transporters in the duodenum...
February 1, 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/26993488/endocytosis-in-enterocytes
#18
REVIEW
Klaus-Peter Zimmer, Jan de Laffolie, Maria Vittoria Barone, Hassan Y Naim
Endocytosis is a fundamental cell biological process, which carries out essential functions in a polarized epithelial cell such as enterocytes provided with a huge surface area of the brush border membrane. Major tasks of enterocytes, which are regulated by endocytic signals, are digestion and absorption of nutrients and drugs/pharmacological agents, barrier permeability to microorganism, toxins and antigens, and transcytotic crosstalk between intestinal lumen and lamina propria cells with access to the circulation...
May 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/26830108/towards-understanding-microvillus-inclusion-disease
#19
Georg F Vogel, Michael W Hess, Kristian Pfaller, Lukas A Huber, Andreas R Janecke, Thomas Müller
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homozygous truncating mutations in STX3...
December 2016: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/26747865/the-role-of-enterocyte-defects-in-the-pathogenesis-of-congenital-diarrheal-disorders
#20
REVIEW
Arend W Overeem, Carsten Posovszky, Edmond H M M Rings, Ben N G Giepmans, Sven C D van IJzendoorn
Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDD(ENT)) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome...
January 2016: Disease Models & Mechanisms
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