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排序方式: 共有550条查询结果,搜索用时 31 毫秒
31.
Iwabuchi T Shimotake T Furukawa T Tsuda T Aoi S Iwai N 《Journal of pediatric surgery》2005,40(8):e11-E13
Hirschsprung's disease is an inherited disorder characterized by the absence of ganglion cells in the distal bowel. Neurocutaneous melanosis is a rare congenital syndrome characterized by proliferation of melanin-producing cells in the skin and leptomeninges. The authors described a newborn patient with neurocutaneous melanosis associated with Hirschsprung's disease. This male baby had congenital hydrocephalus, large and multiple pigmented skin nevi, and severe abdominal distension. He showed marked hydrocephalus at birth and underwent a ventriculo-peritoneal shunt at the age of 5 days. Investigations for gut motility disorders revealed typical findings consistent with Hirschsprung's disease involving the rectosigmoid colon. He was surgically treated for Hirschsprung's disease after transanal endorectal pull-through at the age of 7 months. After settlement of the ventriculo-peritoneal shunt, the transanal approach was of significant value for keeping the intraperitoneal catheter clean. The association of developmental disorders of melanocytes and enteric ganglia, both of which originated from the neural crest, suggested the presence of mutual pathogenetic factors in the patient. 相似文献
32.
Background/Purpose
Recent biological studies have elucidated the molecular mechanism of muscle development, in which various regulatory factors (myogenic regulatory factors [MRFs]) play key roles during embryogenesis. To investigate the development of anorectal malformations (ARMs), we studied MRF expressions in myogenic cells in the pelvic floor using murine embryos affected with ARM.Methods
Anorectal malformation embryos were obtained from the 10.5th embryonal day (E10.5) to the 7.0th postnatal day (D7.0) in a natural mutant strain (Sd/+, RSV/Le). Serial frozen sections were prepared for immunohistochemistry using specific antibodies to M-cadherin, myoD, Myogenin, myosin heavy chain, and alfa-actin molecule.Results
In normal mice, embryonal caudal somites differentiated into myogenic stem cells and migrated to the pelvic floor between E11.0 and E14.0. In the ARM mice, however, caudal somites were irregularly arranged and MRF expressions in myogenic cells were markedly decreased in the dorsocaudal region at E11.5 to E13.0, leading to hypoplastic pelvic floor muscles.Conclusions
The maldevelopment of pelvic floor muscles in ARM is derived from a deficient supply of myogenic stem cells, with impaired MRF expression. These results suggest that myogenic stem cells, available from bone marrow contents, may be used for postnatal muscle regeneration to reinforce the pelvic floor muscle function in children with ARM. 相似文献33.
Tsuda T Shimotake T Aoi S Kume Y Deguchi E Iwai N 《Journal of pediatric surgery》2005,40(12):1927-1930
Background/Purpose
Tethered spinal cord is frequently associated with anorectal malformations (ARMs). However, it remains unknown how the tethered spinal cord develops and relates to the severity of ARM. We studied the development of the spinal cord in ARM mouse embryos induced by all-trans retinoic acid (ATRA).Methods
Pregnant ICR-Slc mice were administered 100 mg/kg of ATRA on the ninth embryonic day (E9.0). Embryonic specimens were obtained from the uteri between E11.0 and E18.5. Midsagittal histologic sections focusing on the spinal cord and pelvis were prepared for immuonhistochemistry specific for neurofilament and Protein Gene Product 9.5 molecules.Results
More than 98% of ATRA-treated embryos demonstrated ARM with rectourethral or rectocloacal fistula. Normal embryos exhibited progressive ascent of the spinal cord from E14.5. However, in ARM embryos, the distal spinal cord ended with meningomyelocelelike or atypical hamartomatous lesions at E11.5 to E13.5, which later caused stretch force that damaged the spinal cord, resulting in tethered cord between E16.0 and E16.5.Conclusions
In ATRA-induced ARM mouse embryos, tethered spinal cord was mostly established, accompanied by caudal neural maldevelopment, during early fetal development. This experimental model may be useful for researching detailed neuropathologic conditions in ARM children accompanied with tethered spinal cord. 相似文献34.
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36.
Background/Purpose: Recent studies have found that anomalous pancreaticobiliary ductal union (APBDU) is a substantial risk factor for biliary tract cancer at a younger age. DPC-4 (Smad-4) is a new tumor suppressor gene frequently inactivated in pancreatic and bile duct adenocarcinoma. To clarify carcinogenesis in APBDU, the authors investigated possible DPC-4 and K-ras mutations in 35 pediatric patients. Methods: DNA was extracted from biliary tract epithelial cells, which were resected surgically and histologically purified using microdissection. Polymerase chain reaction (PCR) primers were designed specifically for exons 8-11 of DPC-4 (18q21.1) and exons 1-2 of the K-ras oncogene (12p12.1). DNA sequences were determined using the direct DyeDeoxy Terminator Cycle method. Results: Of 35 children, 30 had wild-type DPC-4 and K-ras genes. K-ras mutations were detected in 5 patients, 4 of whom showed epithelial hyperplasia or metaplasia. In a 12-year-old girl with adenocarcinoma arising from a choledochal cyst, K-ras and DPC-4 (homozygous deletion) mutations were identified simultaneously. Conclusions: These results suggest that carcinogenesis in the biliary tract epithelium in APBDU is accompanied by multistep genetic mutational events; K-ras gene mutation occurs early in epithelial hyperplasia or metaplasia, whereas inactivation of the DPC-4 gene accumulates late in the progression of biliary tract adenocarcinoma. J pediatr Surg 38:694-697. [copy ] 2003 Elsevier Inc. All rights reserved. 相似文献
37.
Kawamoto K Nagano M Kanda F Chihara K Shigeyoshi Y Okamura H 《Journal of neuroscience research》2003,74(6):852-857
Vasoactive intestinal peptide (VIP) neurons constitute a large group in the suprachiasmatic nucleus (SCN) and it is thought that they are involved in the generation and entrainment of circadian rhythm. We have characterized these VIP-expressing neurons in rat SCN by their ability to induce the mammalian Period1 (Per1) gene in response to light exposure, innervation of retinal afferents, day-night variations in VIP mRNA, and coexpression of gastrin releasing peptide (GRP). VIP neurons in the ventrolateral SCN (SCNVL) were subdivided into two groups, light-evoked Per1-inducible main SCNVL (SCNVLmain) and non-Per1-inducible medially located SCNVL (SCNVLmed). Retinal innervation was abundant in the SCNVLmain but nearly absent in the SCNVLmed. Day-night variation in VIP mRNA expression level was observed in the SCNVLmain but not in the SCNVLmed. GRP mRNA was seen in rarely SCNVLmed but abundant in SCNVLmain, where some neurons coexpressed VIP mRNA. These findings indicate that VIP neurons in the SCN can be divided into two topographically and functionally distinct groups. 相似文献
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39.
Todo Shinjiro; Imashuku Shinsaku; Inoda Hiroshi; Yamanaka Hirofumi; Hibi Shigeyoshi; Tsunamoto Kentaro; Esumi Noriko; Fujiwara Fumihiro; Shimizu Yoshitaka; Morioka Yoshihito; Sugimoto Tohru 《Japanese journal of clinical oncology》1987,17(4):357-362
Severe hypercalcemia (serum calcium, 4.255.25 mmol/l),in association with osteolytic bone lesions, was found in agirl aged 2 yr 7 mo with common acute lymphoblastic leukemia(ALL). Hormonal studies excluded the possibility of the hypercalcemiabeing caused by primary hyperparathyroidism or ectopic parathyroidhormone secretion. Increased plasma prostaglandinE2 (PGE2).Jlevels (130 ng/l), probably produced by leukemic cells, wereconsidered to be one of the pathogenic mechanisms responsiblefor the occurrence of hypercalcemia in this patient. Both thehypercalcemia and the abnormal plasma PGE2 level returned tonormal after chemotherapy. 相似文献
40.