1/5. Gastrointestinal manometric findings in a patient with total intestinal aganglionosis.BACKGROUND/PURPOSE: The authors studied gastrointestinal motility in a patient with total intestinal aganglionosis (TIA) and the effect of octreotide (OCT) on ileal motility in this patient. methods: The 3200-g girl received ileostomy at 50 cm proximal to the ileocecal site and jejunostomy at 15 cm distal to the ligament of Treitz because of severe ileus owing to TIA. histology of the intestines, including jejunostomy, showed no ganglion cells. Gastro-duodeno-jejunal and distal ileal manometries were done 8 months after birth. RESULTS: In upper gastrointestinal manometry, sporadic contractions and clusters consisting of 3 to 5 contractions were observed in the duodenum and jejunum, but no typical phase 3 was observed during the 3-hour recording period. In ileal manometry, long-lasting repetitive contractions were recorded at 2 distal sites. In the most proximal ileum, the frequency of contractions was less than in the 2 distal sites. OCT administration induced a decrease in the amplitude of contractions during the first 20 minutes. The amplitude increased thereafter and reached a level higher than that before OCT administration. CONCLUSIONS: In this patient, the predominant manometry finding was the remarkable hypermotility of the ileum. OCT induced a transient decrease in ileal motility and an increase in motility thereafter.- - - - - - - - - - ranking = 1keywords = ligament (Clic here for more details about this article) |
2/5. Late presentation of a duodenal web in a patient with situs inversus and apple peel jejunal atresia.A 16-year-old girl presented with signs of proximal intestinal obstruction. In the neonatal period, surgical correction of an apple peel atresia had been performed, and she also had a situs inversus abdominalis. Revision of the anastomosis had been done when she was 3 years old. Contrast studies apparently again showed a stricture of the anastomosis, which was treated by stricturoplasty. Because of persistent obstruction, reexploration was done and revealed a duodenal membrane. Anastomotic strictures are very rare several years after the primary operation, so other causes of obstruction should be sought.- - - - - - - - - - ranking = 0.012102898724311keywords = membrane (Clic here for more details about this article) |
3/5. Foregut duplication cyst: a report of a case.During the early embryonal stage of foregut development, malformations may be encountered. Foregut duplications are considered to be due to abnormal cannulization of the gastrointestinal tract and may be communicating or non-communicating cystic or tubular. They are lined by mucosal membrane. The case herein records the first instance of a foregut duplication cyst that contained both gastric and bronchial mucosa. The patient was a 35-year-old female complaining of epigastric pain and nausea for the past several months. physical examination revealed no abnormal findings, but an upper gastrointestinal X-ray series demonstrated an irregularity of the greater curvature of the stomach. On CT scan, a left upper quadrant mass was noted. At laparotomy, a soft, retroperitoneal mass was seen between the stomach and the left adrenal gland, measuring 5.5 x 2.5 x 2 cm. It was excised and sent for histopathology. pathology showed the mass to be of a cystic nature, containing both gastric and bronchial mucosa. After surgery the patient made an uneventful recovery.- - - - - - - - - - ranking = 0.012102898724311keywords = membrane (Clic here for more details about this article) |
4/5. Diamniotic placentation associated with omphalopagus conjoined twins: implications for a contemporary model of conjoined twinning.We have studied omphalopagus conjoined twins with a diamniotic monochorionic placenta. Although conjoined twins usually present in a single amniotic sac, one other example of diamniotic placenta has been reported in omphalopagus twins [Weston et al., 1990: Am J Med Genet 37:558-561]. Most theories concerning the pathogenesis of conjoined twinning exclude the possibility of diamniotic placentation. However, Spencer [1992: teratology 45:591-602] recently elaborated a model for conjoined twinning based on duplication of organizing centers (primitive streaks) during gastrulation. We have considered the fate of embryonic membranes according to this model of omphalopagus twinning and show that diamniotic placentation is a predictable outcome.- - - - - - - - - - ranking = 0.012102898724311keywords = membrane (Clic here for more details about this article) |
5/5. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous blistering associated with congenital pyloric atresia. The disease is frequently lethal, but nonlethal cases have also been reported. Expression of the alpha6 beta4 integrin is altered at the dermal-epidermal basement-membrane zone; recently, mutations in the corresponding genes (ITGA6 and ITGB4) have been disclosed in a limited number of patients, premature termination codons in both alleles being characteristic of lethal variants. In this study, we have examined the molecular basis of EB-PA in five families, two of them with lethal and three of them with nonlethal variants of the disease. mutation analysis disclosed novel lesions in both ITGB4 alleles of each proband. One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA), whereas the other patient with a lethal variant was homozygous for a missense mutation involving a cysteine residue (C61Y). The three nonlethal cases had missense mutations in both alleles (C562R/C562R, R1281W/R252C, and R1281W/R1281W). Immunofluorescence staining of skin in two of the nonlethal patients and in one of the lethal cases was positive, yet attenuated, for alpha6 and beta4 integrins. These results confirm that ITGB4 mutations underlie EB-PA and show that missense mutations may lead to nonlethal phenotypes.- - - - - - - - - - ranking = 0.012102898724311keywords = membrane (Clic here for more details about this article) |