Congential achalasia of the oesophagus in children

Badrawy, R.; Abou-Bieh, Alaa A.

doi:10.1017/s0022215100080919

Cited by 15 publications

(4 citation statements)

References 4 publications

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“…10,35,87 On the converse, a reduction or lack of ganglion cell numbers has been noted in congenital achalasia, 2,23 and our study further supports this. The presence of mast cells is an additional feature that has been described, although their function remains unknown.…”

Section: Discussionsupporting

confidence: 85%

“…It is currently accepted that the degree of neuronal loss in the myenteric plexus is dependent on the extent of the disease; human patients at an earlier stage of the disease tend to have a more functional esophagus and similar numbers of ganglion cells with minimal inflammation compared with healthy individuals. 10,35,87 On the converse, a reduction or lack of ganglion cell numbers has been noted in congenital achalasia, 2,23 and our study further supports this. The presence of mast cells is an additional feature that has been described, although their function remains unknown.…”

Section: Discussionsupporting

confidence: 84%

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Megaesophagus in a Line of Transgenic Rats

et al. 2014

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Megaesophagus is defined as the abnormal enlargement or dilatation of the esophagus, characterized by a lack of normal contraction of the esophageal walls. This is called achalasia when associated with reduced or no relaxation of the lower esophageal sphincter (LES). To date, there are few naturally occurring models for this disease. A colony of transgenic (Pvrl3-Cre) rats presented with megaesophagus at 3 to 4 months of age; further breeding studies revealed a prevalence of 90% of transgene-positive animals having megaesophagus. Affected rats could be maintained on a total liquid diet long term and were shown to display the classic features of dilated esophagus, closed lower esophageal sphincter, and abnormal contractions on contrast radiography and fluoroscopy. Histologically, the findings of muscle degeneration, inflammation, and a reduced number of myenteric ganglia in the esophagus combined with ultrastructural lesions of muscle fiber disarray and mitochondrial changes in the striated muscle of these animals closely mimic that seen in the human condition. Muscle contractile studies looking at the response of the lower esophageal sphincter and fundus to electrical field stimulation, sodium nitroprusside, and L-nitro-L-arginine methyl ester also demonstrate the similarity between megaesophagus in the transgenic rats and patients with achalasia. No primary cause for megaesophagus was found, but the close parallel to the human form of the disease, as well as ease of care and manipulation of these rats, makes this a suitable model to better understand the etiology of achalasia as well as study new management and treatment options for this incurable condition.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 84%

Megaesophagus in a Line of Transgenic Rats

et al. 2014

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“…The occurrence of achalasia in siblings and twins (9) allows some speculation about the role of genetic factorso An autosomal recessive mode of inheritance has been proposed (2,6,8,10,15). Appearance in both sexes strongly supports this proposal.…”

Section: Discussionmentioning

confidence: 99%

Familial Childhood Achalasia

Şenocak

Hiçsönmez²,

Büyükpamukçu³

1990

Eur J Pediatr Surg

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“…Only 5% of all recorded cases of achalasia have been found in the pediatric age group (1 ,2). Familial achalasia is even rarer, and only 35 cases in 15families have been reported (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). The association of achalasia and deficient tear production in children has been found in two isolated cases (12,13) and also in five children belonging to three families (11,13).…”

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confidence: 99%