Congenital pouch colon - Then and now

Gupta, Devendra K.; Sharma, Shilpa

doi:10.4103/0971-9261.31081

Cited by 55 publications

(151 citation statements)

References 20 publications

(13 reference statements)

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“…Another review noted the presence of mature ganglia cells in all cases and giant ganglia in 10% of cases. The nerve bundles were normal or hypertrophic [19] .…”

Section: Discussionmentioning

confidence: 99%

“…These bands were not observed in our study [9] . Other defects in the muscularis propria that have been reported include the lack of differentiation of inner circular and outer longitudinal muscles, arrangement in decussating manner, an incomplete circular muscle layer in 50% patients, and disorganization of muscle coat in an arborizing manner [19,20] . We did not observe these features.…”

Section: Discussionmentioning

confidence: 99%

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Histopathological and Immunohistochemical Findings in Congenital Pouch Colon: A Prospective Study

Udawat¹,

Nunia²,

Mathur³

et al. 2017

Pathobiology

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Background: There is a paucity of literature on the histopathological aspects of congenital pouch colon (CPC) and immunohistochemical (IHC) assessment has not been reported. So we planned to study the histopathological and IHC findings within the spectrum of CPC and compare the findings with the normal colon. Methods: This is a descriptive prospective study on CPC patients. There were 49 cases of CPC (42 males and 7 females) and 13 controls. Histological examination was done using hematoxylin and eosin and Masson trichrome stain. IHC analysis was done with actin, myosin, and desmin antibodies, and neuron-specific enolase and S100 markers for counting ganglionic cells. Results: Histologically, congestion, edema and hemorrhage were seen in mucosa, submucosa, and serosa. Muscle layers were disrupted and divided into bands. An additional muscle coat inside of the muscularis propria was seen in CPC types 1 and 2. Mature ganglionic cells were reduced and muscle layers showed reduced and patchy positivity for smooth muscle actin, myosin, and desmin compared to a normal colon. Conclusions: Histopathological and IHC findings suggest that CPC has distinct defects in the neuromusculature.

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“…Another review noted the presence of mature ganglia cells in all cases and giant ganglia in 10% of cases. The nerve bundles were normal or hypertrophic [19] .…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Histopathological and Immunohistochemical Findings in Congenital Pouch Colon: A Prospective Study

Udawat¹,

Nunia²,

Mathur³

et al. 2017

Pathobiology

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“…CPC more frequently affects the male population and male female (M:F) distribution is 4: 1 [4]. The exact pathogenesis and embryology of CPC is not well studied, but dietary, environmental factors and familial inheritance may be contributing factors in this pathology [2,5].…”

Section: Introductionmentioning

confidence: 99%

“…Our histopathological and immuno-histochemical findings suggest that CPC has distinct defects in the neuromusculature [1]. An unusual feature of CPC is the prevalence of this malformation in the Indian subcontinent, the highest incidence in the west and north of the India [2]. It is estimated to be in the range of 5-82% of the total number of neonates managed for ARM [3].…”

Section: Introductionmentioning

confidence: 99%

Congenital Pouch Colon: Role of Genetics or Environmental Influence?

Mathur¹,

Nunia²,

Sharma³

et al. 2018

Pathobiology

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Background: Congenital pouch colon (CPC), a high type of anorectal malformation, is a sporadic disease and several environmental factors are known to be involved in its pathology. To the best of our knowledge, no familial incidence of CPC has been reported anywhere in the literature so far. Aim: In the present study, which is first of its kind, we have reported the familial incidences of CPC and also tried to elucidate the role of genetics in this pathology. Methods: We have reported 1 familial pedigree of CPC and 2 incidences of dizygotic twins (DZ), out of them one is affected and another one is normal. Highly comprehensive microarray CytoScan HD from Affymetrix was employed to understand the defects underlying submicroscopic genomic imbalance like segment duplication and deletion of the twin patients vis-à-vis their parents and unaffected siblings in these DZ twins. Results: A total of 21 copy number variations (CNVs) were reported in the patient samples that did not overlap with the CNVs in normal parents and healthy sibling, including 5 loss, 3 LOH and 13 gain with size varied from 95 bp to 77 kbp. Genetic analysis revealed involvement of 12 potential genetic loci on Chr 1, 2, 3, 4, 6, 11, and 16. Conclusion: Genetic study found that CPC could be a developmental disorder. These findings are important for further elucidating genetic causes of CPC pathogenesis.

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“…Subsequently extended ways of classification were published for example defining pouch colon in complete congenital pouch colon (CCPC) and incomplete congenital pouch colon (ICPC) [2]. The "Saxena-Mathur classification" categorizes CPC into 5 types regarding the anatomical morphology [3].…”

Section: Introductionmentioning

confidence: 99%