1.Protracted Diarrhea: Results of the Five-year Survey in a Tertiary Hospital in Korea.
Nam Seon BECK ; I Seok KANG ; Yeon Lim SUH
Journal of Korean Medical Science 2001;16(6):736-741
The syndrome of protracted diarrhea (PD) includes several diseases with diverse etiologies. This study was conducted to characterize the spectrum of causes, clinical manifestations, and the outcomes of PD. A retrospective analysis of the clinical and pathological findings was performed on 25 patients with diarrhea starting within the first 2 yr of life and a requirement of parenteral nutrition (PN). According to the intestinal histopathology, patients were classified into four groups: immune enteropathy (12 cases), lymphangiectasia (6 cases), epithelial dysplasia (5 cases), and unclassified (2 cases). All patients with epithelial dysplasia had earlier onset of diarrhea and longer duration of PN than those in the other groups. Three patients (12%) had an evidence of a familial condition. Five patients (three with microvillous inclusion disease and two with immune enteropathy) died. Sixteen patients recovered, and three (two with primary lymphangiectasia and one with microvillous inclusion disease) still had diarrhea. One patient underwent intestinal transplantation for tufting enteropathy. In conclusion, infants with PD should be referred to specialized centers where advanced diagnostic and therapeutic facilities are available, because histological analysis is critical for the diagnosis of PD, and PN or intestinal transplantation is the only therapeutic option in a subset of cases.
Academic Medical Centers
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Age of Onset
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Autoimmune Diseases/pathology
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Child, Hospitalized
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Child, Preschool
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Data Collection
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Diarrhea/*pathology
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Enteritis/immunology/*pathology
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Female
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Human
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Infant
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Infant, Newborn
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Intestinal Mucosa/pathology
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Intestine, Small/immunology/pathology
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Korea
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Lymphangiectasis, Intestinal/pathology
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Male
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Microvilli/pathology
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Retrospective Studies
2.Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease.
Ying CHENG ; Hong LIANG ; Na-Li CAI ; Li GUO ; Yu-Ge HUANG ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2017;19(9):968-974
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. Breath sounds were clear in the two lungs and the heart sounds were normal. The abdomen was distended and the veins in the abdominal wall were observed. The liver and spleen were not palpable. Biochemical analysis revealed raised serum total bile acids, bilirubin, transaminases and γ-glutamyl transpeptidase while decreased levels of serum sodium, chloride, phosphate and magnesium. Blood gas analysis indicated metabolic acidosis. The preliminary diagnosis was congenital diarrhea, and thus parenteral nutrition was given along with other symptomatic and supportive measures. However, diarrhea, metabolic acidosis and electrolyte disturbance were intractable, and the cholestatic indices, including transaminases, γ-glutamyl transpeptidase, bilirubin and total bile acids, remained at increased levels. One month later, the patient was discharged and then lost contact. On genetic analysis, the infant was proved to be a compound heterozygote of the c.310+2Tdup and c.1966C>T(p.R656C) variants of the gene MYO5B, with c.310+2Tdup being a novel splice-site mutation. MVID was thus definitely diagnosed.
Female
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Humans
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Infant, Newborn
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Malabsorption Syndromes
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diagnosis
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genetics
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Microvilli
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genetics
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pathology
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Mucolipidoses
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diagnosis
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genetics
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Mutation
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Myosin Heavy Chains
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genetics
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Myosin Type V
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genetics
3.Phenotypic and genetic analysis of a family affected with microvillus inclusion disease.
Man MAO ; . WENWANGRONG@YEAH.NET. ; Li GUO ; Zhanhui ZHANG ; Bin WANG ; Shanhua HUANG ; Yuanzong SONG ; Fengping CHEN ; Wangrong WEN
Chinese Journal of Medical Genetics 2016;33(6):792-796
OBJECTIVETo explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.
METHODSClinical 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.
RESULTSThe patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i.e., IVS37-1G>C/c.2729_2731delC (p.R911Afs916X), was discovered in the patient. The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously.
CONCLUSIONBased on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.
Family ; Female ; Genetic Testing ; methods ; Genotype ; Humans ; Infant ; Malabsorption Syndromes ; genetics ; Male ; Microvilli ; genetics ; pathology ; Mucolipidoses ; genetics ; Mutation ; genetics ; Myosin Heavy Chains ; genetics ; Myosin Type V ; genetics ; Phenotype
4.Effects of ezrin silencing on pancreatic cancer cell line Panc-1.
Yun-xiao MENG ; Shuang-ni YU ; Zhao-hui LU ; Jie CHEN
Chinese Journal of Pathology 2012;41(12):833-836
OBJECTIVETo explore the effects of ezrin silencing on pancreatic cancer cell line Panc-1.
METHODSPancreatic cancer cell line Panc-1 was transfected with ezrin silencing plasmid. The proliferation and the cell cycle status were determined by CCK-8 assay and flow cytometry analysis, respectively. Cellular membrane protrusions/microvilli formation were visualized by scanning election microscopy. Colony formation assay was used to determine the cell anchor-independent growth ability in vitro. Trans-filter migration and invasion assays were performed with 8 µm pore inserts in a 24-well BioCoat chamber with/without Matrigel.
RESULTSEzrin silencing decreased cellular protrusions/microvilli formation, anchorage-independent growth, cell migration and invasion, but had no effects on cell proliferation in vitro and cell cycle, in pancreatic cancer cell line Panc-1.
CONCLUSIONEzrin expression affects the cellular protrusions/microvilli formation, anchorage-independent growth, cell migration and invasion in pancreatic cancer cell line Panc-1.
Cell Line, Tumor ; Cell Movement ; Cell Proliferation ; Cell Surface Extensions ; pathology ; Cytoskeletal Proteins ; genetics ; metabolism ; Humans ; Microvilli ; pathology ; Neoplasm Invasiveness ; Pancreatic Neoplasms ; genetics ; metabolism ; pathology ; Plasmids ; RNA Interference ; RNA, Small Interfering ; Transfection
5.Ultrastructural study on route of gut bacterial translocation in a rat after spinal cord injury.
Chinese Journal of Applied Physiology 2015;31(6):561-566
OBJECTIVETo observe the ultrastructural change of the route of gut bacterial translocation in a rat with spinal cord injury (SCI).
METHODSForty Wistar rats were divided into the following groups: control group and 3 SCI groups (10 in each group). The rats in the SCI groups were established SCI model at 24 h, 48 h, and 72 h after SCI. Small intestine mucous membrane tissue was identified and assayed by transmission electron microscope, scanning electron microscope and immunofluorescence microscopy.
RESULTSSmall intestine mucous membrane tissue in control group was not damaged significantly, but those in SCI groups were damaged significantly. Proliferation bacteria in gut lumen attached on microvilli. The extracellular bacteria torn the intestinal barrier and perforated into the small intestinal mucosal epithelial cell. The bacteria and a lot of particles of the seriously damaged region penetrated into the lymphatic system and the blood system directly. Some bacteria were internalized into the goblet cell through the apical granule. Some bacteria and particles perforated into the submucosa of the M cell running the long axis of M cells through the tight junctions. In the microcirculation of mucosa, the bacteria that had already broken through the microvilli into blood circulation swim accompanying with erythrocytes.
CONCLUSIONThe routes of bacterial translocation interact and format a vicious circle. At early step, the transcellular pathway of bacterial translocation is major. Following with the destroyed small intestine mucous, the routes of bacterial translocation through the lymphatic system and the blood system become direct pathways. The goblet cell-dendritic cell and M cell pathway also play an important role in the bacterial translocation.
Animals ; Bacteria ; Bacterial Translocation ; Epithelial Cells ; microbiology ; Goblet Cells ; microbiology ; Intestinal Mucosa ; microbiology ; pathology ; ultrastructure ; Intestine, Small ; microbiology ; pathology ; ultrastructure ; Microvilli ; microbiology ; Rats ; Rats, Wistar ; Spinal Cord Injuries ; microbiology
6.Effect of dietary administration of Lathyrus sativus pulse on intestinal biochemical parameters in normal and scorbutic guinea pigs.
Archana AMBA ; Manoj KUMAR ; R K UPRETI ; Subhash K KHANNA ; Mukul DAS
Biomedical and Environmental Sciences 2002;15(4):315-322
OBJECTIVEIn order to investigate that ascorbic acid deficiency is responsible for lathyrus toxicity, the effect of dietary feeding of lathyrus pulse in normal and scorbutic guinea pigs for 3 months, on intestinal biochemical parameters was undertaken.
METHODSThe intestinal brush border membrane (BBM) marker and xenobiotic metabolising enzymes (XME) were assayed.
RESULTSExposure to 80% lathyrus alone and in scorbutic conditions showed significant inhibition of alkaline phosphatase (28%-30%), sucrase (19%) and gamma-glutamyl transpeptidase (GGT) (15%-27%) enzymes, while Ca(2+)-Mg(2+)-ATPase was significantly inhibited (38%) in scorbutic plus lathyrus treated group. The phase I XME (AHH) remained unchanged while the phase II enzyme glutathione-S-transferase (GST) was significantly decreased (20%-22%) in lathyrus and scorbutic plus lathyrus treated groups. Quinone reductase (QR) activity was found to be significantly decreased in lathyrus exposed group (20%). The intestinal biomarker contents including hexose (25%-34%) and phospholipids (20%-40%) were significantly reduced in lathyrus and scorbutic plus lathyrus exposed animals, while sialic acid showed a significant decrease (28%) in scorbutic plus lathyrus treated group. However, cholesterol levels were significantly enhanced (15%-28%) in lathyrus and scorbutic plus lathyrus treated animals.
CONCLUSIONThe results indicate that oral feeding of lathyrus pulse to guinea pigs can alter BBM parameters as well as XME, which may result in the intestinal toxicity. Further, ascorbic acid deficiency could be one of the pre-disposing factors of lathyrus toxicity.
Administration, Oral ; Animals ; Ascorbic Acid Deficiency ; complications ; veterinary ; Biomarkers ; analysis ; Cholesterol ; blood ; Diet ; Digestive System ; enzymology ; metabolism ; pathology ; Guinea Pigs ; Lathyrus ; chemistry ; Male ; Microvilli ; Phospholipids ; metabolism ; Plant Extracts ; adverse effects
7.Selective COX-2 inhibitor delays experimental gastric ulcer healing by stimulating gastric acid secretion in rats.
Mei-rong HE ; Jin-qiu LIN ; Yu-gang SONG
Journal of Southern Medical University 2007;27(7):1015-1017
OBJECTIVETo observe the effect of selective cyclooxygenase-2 (COX-2) inhibitor on the healing of experimental gastric ulcer in rats and explore its mechanisms in light of gastric acid secretion.
METHODSGastric ulcers were induced in rats by an application of acetic acid to the serosal surface of the anterior gastric body. The effects of selective COX-2 inhibitor, celecoxib, on the healing of gastric ulcer, the total acidity of gastric juice, the expressions of H+, K+-ATPase mRNA and protein, and the ultrastructure of the parietal cell were observed in comparison with the effects of normal saline.
RESULTSNine days after ulcer induction, the ulcer area was 11.9-/+3.1 mm square and 19.7-/+3.8 mm square in rats with normal saline and celecoxib treatments, respectively (P<0.01). The total acidity of gastric juice and the expressions of H+, K+-ATPase mRNA and protein in celecoxib group were significantly higher than that in normal saline group at both 6 and 9 days after ulcer induction, but no significant difference was found between the two groups in the amount of secretary canaliculus and microvillus.
CONCLUSIONSelective COX-2 inhibitor can significantly delay the healing of experimental gastric ulcer in rats, the mechanism of which might be associated with enhanced digestive action of gastric acid on the new granulation tissue at the ulcer base as a result of celecoxib-stimulated gastric acid secretion of the parietal cells.
Animals ; Celecoxib ; Cyclooxygenase 2 Inhibitors ; pharmacology ; therapeutic use ; Gastric Acid ; secretion ; Gene Expression Regulation, Enzymologic ; drug effects ; H(+)-K(+)-Exchanging ATPase ; genetics ; metabolism ; Hydrogen-Ion Concentration ; Male ; Microvilli ; drug effects ; pathology ; Parietal Cells, Gastric ; drug effects ; ultrastructure ; Pyrazoles ; pharmacology ; therapeutic use ; RNA, Messenger ; genetics ; metabolism ; Rats ; Rats, Wistar ; Stomach Ulcer ; drug therapy ; metabolism ; pathology ; Sulfonamides ; pharmacology ; therapeutic use