Technique for suction biopsy of the rectal mucosa.

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

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Virulence Properties of Escherichia coli Isolated from the Rectal Mucosa of Patients with First Attacks of Colitis

Microbial Ecology in Health and Disease ◽

10.3402/mehd.v8i1.8255 ◽

1994 ◽

Vol 8 (1) ◽

Author(s):

G. Schumacher ◽

H. Steinrûck ◽

A. Geyid ◽

B. Kollberg ◽

Å. Ljungh

Keyword(s):

Escherichia Coli ◽

Rectal Mucosa ◽

Virulence Properties

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Faculty Opinions recommendation of Immunodominant HIV-specific CD8+ T-cell responses are common to blood and gastrointestinal mucosa, and Gag-specific responses dominate in rectal mucosa of HIV controllers.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.5622960.5591059 ◽

2010 ◽

Author(s):

James Tartaglia

Keyword(s):

T Cell ◽

Rectal Mucosa ◽

T Cell Responses ◽

Cd8 T Cell ◽

Gastrointestinal Mucosa ◽

Cell Responses ◽

Hiv Controllers

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Identification of potential biomarkers for abdominal pain in IBS patients by bioinformatics approach

BMC Gastroenterology ◽

10.1186/s12876-021-01626-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Zhongyuan Lin ◽

Yimin Wang ◽

Shiqing Lin ◽

Decheng Liu ◽

Guohui Mo ◽

...

Keyword(s):

Gene Expression ◽

Irritable Bowel Syndrome ◽

Abdominal Pain ◽

Gastrointestinal Disease ◽

Rectal Mucosa ◽

Interaction Network ◽

Enrichment Analysis ◽

Functional Enrichment ◽

Irritable Bowel ◽

Potential Biomarkers

Abstract Background Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disease characterized by chronic abdominal discomfort and pain. The mechanisms of abdominal pain, as a relevant symptom, in IBS are still unclear. We aimed to explore the key genes and neurobiological changes specially involved in abdominal pain in IBS. Methods Gene expression data (GSE36701) was downloaded from Gene Expression Omnibus database. Fifty-three rectal mucosa samples from 27 irritable bowel syndrome with diarrhea (IBS-D) patients and 40 samples from 21 healthy volunteers as controls were included. Differentially expressed genes (DEGs) between two groups were identified using the GEO2R online tool. Functional enrichment analysis of DEGs was performed on the DAVID database. Then a protein–protein interaction network was constructed and visualized using STRING database and Cytoscape. Results The microarray analysis demonstrated a subset of genes (CCKBR, CCL13, ACPP, BDKRB2, GRPR, SLC1A2, NPFF, P2RX4, TRPA1, CCKBR, TLX2, MRGPRX3, PAX2, CXCR1) specially involved in pain transmission. Among these genes, we identified GRPR, NPFF and TRPA1 genes as potential biomarkers for irritating abdominal pain of IBS patients. Conclusions Overexpression of certain pain-related genes (GRPR, NPFF and TRPA1) may contribute to chronic visceral hypersensitivity, therefore be partly responsible for recurrent abdominal pain or discomfort in IBS patients. Several synapses modification and biological process of psychological distress may be risk factors of IBS.

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Diagnosis of preclinical scrapie in samples of rectal mucosa

Veterinary Record ◽

10.1136/vr.156.26.846-b ◽

2005 ◽

Vol 156 (26) ◽

pp. 846-847 ◽

Cited By ~ 30

Author(s):

L. Gonzalez ◽

M. Jeffrey ◽

S. SisO ◽

S. Martin ◽

S. J. Bellworthy ◽

...

Keyword(s):

Rectal Mucosa

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Morphological consequences of bisacodyl on normal human rectal mucosa: effect of a prostaglandin E1 analog on mucosal injury

Gastrointestinal Endoscopy ◽

10.1016/s0016-5107(90)70960-1 ◽

1990 ◽

Vol 36 (2) ◽

pp. 101-104 ◽

Cited By ~ 13

Author(s):

D.R. Saunders ◽

R.C. Haggitt ◽

M.B. Kimmey ◽

F.E. Silverstein

Keyword(s):

Prostaglandin E1 ◽

Rectal Mucosa ◽

Mucosal Injury ◽

Normal Human

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Cow's Milk Protein Intolerance

PEDIATRICS ◽

10.1542/peds.80.3.461c ◽

1987 ◽

Vol 80 (3) ◽

pp. 461-462

Author(s):

HAROLD I. LECKS

Keyword(s):

At Risk ◽

Diagnostic Procedure ◽

Milk Protein ◽

Rectal Mucosa ◽

Cow’S Milk ◽

Cow's Milk ◽

Cow's Milk Protein Intolerance ◽

Cow’S Milk Protein ◽

Pragmatic Aspects ◽

Protein Intolerance

In Reply.— The literature has been replete with discussions of cow's milk protein hypersensitivity relevant to its diagnosis as well as clinical patterns of presentation since the entity was initially described by M. Rubin 40 years ago. Drs Gilbertson and Bentley now suggest a comparatively simple diagnostic procedure for detecting cow's milk protein intolerance (hypersensitivity) by merely inspecting the rectal mucosa of the infant at risk. My criticism of their observations relates initially to the specificity of rectal mucosal vascularity changes, as well as to the pragmatic aspects of this diagnostic procedure.

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