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Microvillus inclusion disease

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https://www.readbyqxmd.com/read/27575604/congenital-microvillus-inclusion-disease-in-the-differential-diagnosis-of-intractable-metabolic-acidosis
#1
Nilufer Guzoglu, Didem Aliefendioglu, Fulya Gulerman, Safak Gucer, Figen Kaymaz
No abstract text is available yet for this article.
August 9, 2016: 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
#2
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...
August 17, 2016: 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
#3
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...
August 3, 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
#4
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
#5
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...
August 1, 2016: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/27229121/identification-of-intestinal-ion-transport-defects-in-microvillus-inclusion-disease
#6
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
#7
G Victoria 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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/26553929/cargo-selective-apical-exocytosis-in-epithelial-cells-is-conducted-by-myo5b-slp4a-vamp7-and-syntaxin-3
#11
Georg F Vogel, Katharina M C Klee, Andreas R Janecke, Thomas Müller, Michael W Hess, Lukas A Huber
Mutations in the motor protein Myosin Vb (Myo5B) or the soluble NSF attachment protein receptor Syntaxin 3 (Stx3) disturb epithelial polarity and cause microvillus inclusion disease (MVID), a lethal hereditary enteropathy affecting neonates. To understand the molecular mechanism of Myo5B and Stx3 interplay, we used genome editing to introduce a defined Myo5B patient mutation in a human epithelial cell line. Our results demonstrate a selective role of Myo5B and Stx3 for apical cargo exocytosis in polarized epithelial cells...
November 9, 2015: Journal of Cell Biology
https://www.readbyqxmd.com/read/26526116/the-localisation-of-the-apical-par-cdc42-polarity-module-is-specifically-affected-in-microvillus-inclusion-disease
#12
Grégoire Michaux, Dominique Massey-Harroche, Ophélie Nicolle, Marion Rabant, Nicole Brousse, Olivier Goulet, André Le Bivic, Frank M Ruemmele
BACKGROUND INFORMATION: Microvillus inclusion disease (MVID) is a genetic disorder affecting intestinal absorption. It is caused by mutations in MYO5B or syntaxin 3 (STX3) affecting apical membrane trafficking. Morphologically, MVID is characterised by a depletion of apical microvilli and the formation of microvillus inclusions inside the cells, suggesting a loss of polarity. To investigate this hypothesis, we examined the location of essential apical polarity determinants in five MVID patients...
January 2016: Biology of the Cell
https://www.readbyqxmd.com/read/26201991/myo5b-knockout-mice-as-a-model-of-microvillus-inclusion-disease
#13
Fernando Cartón-García, Arend W Overeem, Rocio Nieto, Sarah Bazzocco, Higinio Dopeso, Irati Macaya, Josipa Bilic, Stefania Landolfi, Javier Hernandez-Losa, Simo Schwartz, Santiago Ramon y Cajal, Sven C D van Ijzendoorn, Diego Arango
Inherited MYO5B mutations have recently been associated with microvillus inclusion disease (MVID), an autosomal recessive syndrome characterized by intractable, life-threatening, watery diarrhea appearing shortly after birth. Characterization of the molecular mechanisms underlying this disease and development of novel therapeutic approaches is hampered by the lack of animal models. In this study we describe the phenotype of a novel mouse model with targeted inactivation of Myo5b. Myo5b knockout mice show perinatal mortality, diarrhea and the characteristic mislocalization of apical and basolateral plasma membrane markers in enterocytes...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26057766/peripheral-avascular-retina-in-a-term-male-neonate-with-microvillus-inclusion-disease-and-pancreatic-insufficiency
#14
Yannis M Paulus, Deborah M Alcorn, Michael Gaynon, Darius M Moshfeghi
The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation...
May 2015: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/26033472/belgian-multicenter-experience-with-intestinal-transplantation
#15
Laurens J Ceulemans, Diethard Monbaliu, Arnaud De Roover, Olivier Detry, Roberto I Troisi, Xavier Rogiers, Raymond Reding, Jan P Lerut, Dirk Ysebaert, Thierry Chapelle, Jacques Pirenne
Intestinal transplantation (ITx) has evolved from an experimental procedure toward a clinical reality but remains a challenging procedure. The aim of this survey was to analyze the multicenter Belgian ITx experience. From 1999 to 2014, 24 ITx in 23 patients were performed in Belgium, divided over five centers. Median recipient age was 38 years (8 months-57 years); male/female ratio was 13/10; six were children; and 17 adults. Intestinal failure was related to intestinal ischemia (n = 5), volvulus (n = 5), splanchnic thrombosis (n = 4), Crohn (n = 2), pseudo-obstruction (n = 2), microvillus inclusion (n = 2), Churg-Strauss (n = 1), necrotizing enterocolitis (n = 1), intestinal atresia (n = 1), and chronic rejection (n = 1)...
December 2015: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/25800833/analysis-of-the-interactions-between-rab-gtpases-and-class-v-myosins
#16
Andrew J Lindsay, Stéphanie Miserey-Lenkei, Bruno Goud
Myosins are actin-based motor proteins that are involved in a wide variety of cellular processes such as membrane transport, muscle contraction, and cell division. Humans have over 40 myosins that can be placed into 18 classes, the malfunctioning of a number of which can lead to disease. There are three members of the human class V myosin family, myosins Va, Vb, and Vc. People lacking functional myosin Va suffer from a rare autosomal recessive disease called Griscelli's Syndrome type I (GS1) that is characterized by severe neurological defects and partial albinism...
2015: Methods in Molecular Biology
https://www.readbyqxmd.com/read/25517957/villin-immunohistochemistry-is-a-reliable-method-for-diagnosing-microvillus-inclusion-disease
#17
Nick M Shillingford, Monica L Calicchio, Lisa A Teot, Theonia Boyd, Kyle C Kurek, Jeffrey D Goldsmith, Athos Bousvaros, Antonio R Perez-Atayde, Harry P W Kozakewich
Microvillus inclusion disease (MVID) is a rare congenital disorder that manifests early in infancy as intractable watery diarrhea. The entity is characterized morphologically by a deficient brush border and apical cytoplasmic inclusions within absorptive cells (enterocytes) due to misplaced assembly of brush border proteins. The diagnosis is based upon histopathology, special stains, immunohistochemistry (IHC), and ultimately upon electron microscopy. Currently, the periodic acid-Schiff stain (PAS) and CD10 IHC are commonly used as adjuncts, but in addition to brush border structures, they stain a variety of apical cytoplasmic inclusions and organelles, thereby interfering with recognition of microvillus inclusions...
February 2015: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/25452882/microvillus-inclusion-disease-associated-with-necrotizing-enterocolitis-in-a-premature-infant
#18
Ersin Sayar, Salih Kalay, Aygen Yilmaz, Osman Oztekin, Ali Islek, Gulsum Ozlem Elpek, Zuhal Kalay, Gonul Tezel, Reha Artan
Microvillus inclusion disease is one of the congenital diarrheal disorders characterized by the appearance of inclusion bodies on the intestinal epithelium. To date there are a few cases and also a few other associated finding reports related to this life-threatening disease in literature. In this report, we present a premature infant with microvillus inclusion disease that was associated with necrotizing enterocolitis. Thus, we should be aware of the appearance of necrotizing enterocolitis in patients with microvillus inclusion disease, especially when contributing factors are present...
November 2014: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/25258405/myosin-5b-loss-of-function-leads-to-defects-in-polarized-signaling-implication-for-microvillus-inclusion-disease-pathogenesis-and-treatment
#19
Dmitri Kravtsov, Anastasia Mashukova, Radia Forteza, Maria M Rodriguez, Nadia A Ameen, Pedro J Salas
Microvillus inclusion disease (MVID) is an autosomal recessive condition resulting in intractable secretory diarrhea in newborns due to loss-of-function mutations in myosin Vb (Myo5b). Previous work suggested that the apical recycling endosomal (ARE) compartment is the primary location for phosphoinositide-dependent protein kinase 1 (PDK1) signaling. Because the ARE is disrupted in MVID, we tested the hypothesis that polarized signaling is affected by Myo5b dysfunction. Subcellular distribution of PDK1 was analyzed in human enterocytes from MVID/control patients by immunocytochemistry...
November 15, 2014: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/25188144/pediatric-and-perinatal-pathology-sy21-3-recent-advances-in-molecular-pathology-of-microvillus-inclusion-disease-mvid
#20
Cornelia Thoeni, Ernest Cutz
MVID, first reported in 1972 as a familial enteropathy is a congenital disorder of intestinal mucosa characterized by villous atrophy with marked abnormalities of enterocytes which on electron microscopy (EM) show loss of apical microvilli, intracytoplasmic microvillous inclusions as well as vesicular inclusion bodies and subapical secretory-like granules. The clinical manifestations include severe malabsorption and intractable watery diarrhea starting at birth (classical MVID) or at few days or weeks of age (variant MVID)...
October 2014: Pathology
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