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Biomedical subjects

S Arbuckle

Publications and source records attributed to S Arbuckle.

16 recordsLinked to original sources
PubMed2005

Combined ileal heterotopic pancreatic and gastric tissues causing ileocolic intussusception in an infant.

Pathological intussusception is rare in infancy with Meckel's diverticulum being the most common lesion. Isolated heterotopic pancreatic tissue in the serosa of the ileum causing intussusception is extremely rare. We report a case of ileal heterotopic pancreatic tissue associated with ectopic gastric mucosa causing ileocolic intussusception in an infant, with review of the literature.

Choristoma↗
PubMed2005

Pulmonary hypertension--a new manifestation of mitochondrial disease.

Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.

Adenosine Triphosphate↗
PubMed2004

Mortality due to constipation and short-segment Hirschsprung's disease.

We report a case of mortality secondary to constipation. A 12-year-old child with a history of constipation from the age of 9 years presented in moribund condition with intestinal obstruction secondary to idiopathic constipation. He underwent laparotomy and died within 24 h of operation. At postmortem there was no evidence of abnormalities of the enteric nervous system. A 2nd case of early neonatal death from Hirschsprung's disease is presented to demonstrate that short-segment aganglionosis can be detected at postmortem. Enterocolitis can rapidly progress and be fatal in short-segment Hirschsprung's disease.

Child↗
PubMed2001

Melanosis of the appendix: common in the paediatric age group.

AIMS: To investigate the incidence of melanosis of the vermiform appendix in a paediatric population, and look for correlations with season, apoptotic rate and inflammation as possible causes. METHODS AND RESULTS: We examined 300 appendices removed for abdominal pain and incidentally during other procedures over the period January 1996 to March 1999. Melanosis was present in 46% of adequate specimens with an even distribution between sexes and age groups. The two older age groups had a relatively higher incidence of severe involvement compared with the younger age group, although the difference was not statistically significant. We attempted to correlate the presence of melanosis with the season of the year and the peak incidences of paediatric gastrointestinal disease but could find no relationship. No statistically significant correlation was found between apoptotic rate and the presence of melanosis. CONCLUSIONS: The findings suggest melanosis of the appendix is relatively common. It is probably due to apoptosis associated with increased epithelial cell turnover due to many differing causes including infection, with purgative ingestion probably involved in only a minority of paediatric cases.

Adolescent↗
PubMed2001

Intravenous pamidronate reduces osteoporosis and improves formation of the regenerate during distraction osteogenesis. A study in immature rabbits.

We examined the effect on bone mineral density (BMD) of a single dose of 3 mg/kg of the bisphosphonate, pamidronate (Novartis) in distraction osteogenesis in immature rabbits. Seventeen rabbits (9 control, 8 given pamidronate) were examined by dual-energy x-ray absorptiometry. There was a significant increase in the BMD in the pamidronate group compared with the control animals. The mean areal BMD (g/cm2) in the bone proximal and distal to the regenerate was increased by 40% and 39%, respectively, compared with the control group (p < 0.05). The BMD of the regenerate bone was increased by a mean of 43% (p < 0.05). There was an increase of 22% in the mean area of regenerate formed in the pamidronate group (p < 0.05). Histological examination of bone in nine rabbits (5 control, 4 pamidronate) showed an increase in osteoblastic rimming and mineralisation of the regenerate, increased formation of bone around the pin sites and an increase in the cortical width of the bone adjacent to the regenerate in the rabbits given pamidronate. Pamidronate had a markedly positive effect. It reduced the disuse osteoporosis normally associated with lengthening using an external fixator and increased the amount and density of the regenerate bone. Further study is required to examine the mechanical properties of the regenerate after the administration of pamidronate.

Animals↗
PubMed2000

Congenital varicella syndrome diagnosed by polymerase chain reaction--scarring of the spinal cord, not the skin.

A term infant with congenital varicella syndrome (CVS) is reported. Monoplegia of the left arm and paraplegia were present with no evidence of dermatomal skin scarring. Following death at 12 days of age, autopsy documented severe atrophy and gliosis of the spinal cord. Testing for varicella-zoster virus by the polymerase chain reaction method on brain tissue was positive. This case extends the current understanding of the clinical and pathological features of CVS.

Chickenpox↗
PubMed1999

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?

We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The ribs consisted of cartilage anteriorly, with only a small amount of fibrous tissue present laterally and posteriorly. The second fetus (12 weeks gestation) had agnathia, with a large U-shaped defect in the soft palate. There was moderate postnuchal edema. The ribs were unossified and there were gaps in the cartilage where primitive mesenchyme was present posteriorly and laterally. These findings are consistent with a severe form of cerebro-costo-mandibular syndrome. The early fetal histopathology of both cases suggests a possible mechanism by which the characteristic "rib gaps" of cerebro-costo-mandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis.

Abnormalities, Multiple↗
PubMed1997

Neurofibromatosis of the small intestine mesentery in a child with neurofibromatosis type 1.

The authors present a case of mesenteric neurofibromatosis in a child, which is a rare complication of neurofibromatosis type 1 (NF1). This case is presented to illustrate the clinical features and the radiological appearance of mesenteric neurofibromatosis, which, in the appropriate clinical setting of NF1, are diagnostic. The authors also discuss the long-term complications of this condition, which includes the potential risk of malignant degeneration.

Child↗
PubMed1997

Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.

To report the first case of carbohydrate deficient glycoprotein syndrome Type I (CDG I) that has been identified in Australia and confirmed enzymatically to raise the awareness of paediatricians with regard to CDG I and its manifestations, implications and diagnostic investigations. Clinical and autopsy findings of an infant with CDG I are presented. The diagnosis of CDG I was suggested by the clinical findings and biochemical abnormalities and was confirmed by showing an abnormal transferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycoprotein syndrome I is one of the many causes of cerebellar hypoplasia. It is an important disorder to identify because of the prognostic and genetic implications and may be underdiagnosed in Australia.

Cerebellum↗
PubMed1989

Assessment of pancreatic islet-cell population in the hyperglycemic athymic nude mouse: immunohistochemical, ultrastructural, and hormonal studies.

Previous studies in diabetic animal models have demonstrated altered pancreatic islet-cell populations. To further characterize the diabetic syndrome in our athymic nude mouse colony, we studied the population of endocrine cells in pancreatic islets of 4-week-old normoglycemic and 8-week-old hyperglycemic athymic nude (nu/nu) mice using immunohistochemistry, morphometry, and electron microscopy. In normoglycemic 4-week athymic nu/nu mice, the proportions of B (insulin-secreting) cells and A (glucagon-secreting) cells were similar to those in control Balb/c mice; however, the D (somatostatin-secreting) cells were significantly decreased in nu/nu mice. The populations of B and A cells appeared to be normal in hyperglycemic 8-week-old nu/nu mice while there was a significant increase in the proportion of D cells when compared with the proportion in Balb/c mice. Electron microscopic studies indicated that the appearance of B and A cells was similar in the 8-week-old hyperglycemic nu/nu and in controls; however, the D cells appeared to be enlarged and were finely packed with electron-dense secretory granules. Radioimmunoassays of the pancreatic content (micrograms/g fresh pancreas) of insulin, glucagon, and somatostatin in pancreata in 8-week-old normal Balb/c and hyperglycemic athymic nude mice were similar; however, the somatostatin content was significantly increased in the 8-week-old hyperglycemic nu/nu mice compared with age and sex-matched controls. These results demonstrate an altered D cell population and an increase in somatostatin levels in the pancreatic islets of the hyperglycemic athymic nude mouse animal model.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMedDate not supplied

Umbilical cord stricture and intrauterine fetal death.

Umbilical cord stricture is an uncommon but distinctive condition associated with intrauterine fetal death. Although cases have been reported periodically since the last century, there has been considerable speculation as to whether the condition is real or a postmortem artifact. In the present study, 25 cases reported since 1925 are reviewed and 8 new cases are described. Clinically, a decrease in fetal movements is usually the only symptom during the second or third trimester of pregnancy and fetal death occurs soon after. The women's age, health, and previous history have shown no link with this condition, but a higher incidence is noted in twin pregnancies. Morphologically, most infants are macerated and an extremely narrow segment of umbilical cord is usually seen at the fetal end and rarely at the placental end or in multiple sites along the cord. Absence of Wharton's jelly, stenosis, or obliteration of cord vessels at the narrow segment and intravascular cord thrombosis are the major pathological features. The findings of this study support the view that the condition can cause fetal death and alerts both pathologists and clinicians to the important features identifying this cause of perinatal wastage.

Adult↗