Gastric tube graft interposition as an oesophageal substitute.

BACKGROUND: Use and techniques of oesophageal replacement for long gap oesophageal atresia are still evolving. Gastric tube graft interposition as an oesophageal substitute was evaluated on an animal model. METHODS: Twenty-three postweaned, 28-day-old-piglets were used as the experimental animals. Isoperistaltic gastric tube interposition based on the right gastroepiploic vessels was performed at 28 days of life. Postoperative evaluation included weekly measurement of weight, clinical assessment for gastrointestinal and respiratory complications and deglutition difficulties. Haemoglobin, serum ferritin, albumin, globulins, total proteins and red cell folate were assayed. Pigs were killed and analysed histopathologically following a maximum observation period of 149 days. RESULTS: Growth of the pigs was normal. Deglutition was not impaired in 16 pigs (89%). Minor leak was diagnosed in three pigs (17%), which was successfully managed conservatively. Anastomotic stricture was seen in two pigs (11%). Graft necrosis was not seen. Gross histology showed the absence of hypertrophy, redundancy and kinking of the interposed gastric tube graft. Microscopically non-erosive oesophagitis was seen in three pigs (17%), ulcerative oesophagitis was seen in two pigs (11%) and submucosal fibrosis was seen in seven pigs (39%). Dysplasia or Barrett's oesophagitis was not observed at the end of animal growth. CONCLUSIONS: Gastric tube graft interposition is an immediate ideal oesophageal substitute due to fewer complications, probable absence of gastro-oesophageal reflux in the majority by histology, and absence of dilatation and redundancy of the interpose tube. The oesophageal substitute adequately met the nutritional needs for growth and development in the animal model.

Thoracic wall lipoblastoma: a case report and review of histopathology and cytogenetics.

A rare case of a successfully excised intra- and extrathoracic lipoblastoma of the anterior chest wall in a 13-month-old female infant is reported. Histopathology and cytogenetical analysis established the diagnosis of a lipoblastoma. The differential diagnosis, histology and cytogenetical evaluation of lipomatous neoplasms are discussed. Karyotypic analysis may be of use in diagnostically difficult cases owing to the characteristic alterations in 18q11-13. A complete resection of lipoblastomas is feasible and advantageous with no need for a mutilating radical excision.

Critical obstruction of the right ventricular outflow tract by a primary hemangioendothelioma in a seven month old.

A 7-month-old presented with failure to thrive and a murmur. Echocardiography demonstrated a large mass in the right ventricular outflow tract, extending through the pulmonary valve. During anaesthetic induction this caused critical obstruction of the outflow tract and cardiac arrest. Pathological diagnosis showed the lesion to be a primary hemangioendothelioma. Despite surgical excision and steroid therapy, the mass continued to grow for a period of 8 weeks, but then began to regress spontaneously.

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further.

Immunohistochemical detection of the Wilms' tumour gene WT1 in desmoplastic small round cell tumour.

The desmoplastic small round cell tumour (DSRCT) is a rare, highly malignant neoplasm usually presenting in the abdomen of adolescent males. A characteristic translocation between the Ewing's sarcoma gene on chromosome 22 and the Wilms' tumour gene WT1 on chromosome 11 has been described, producing a fusion gene with expression of the DNA binding area of WT1. Some Wilms' tumour antibodies recognize epitopes of this part of the WT1 protein. All four cases of DSRCT examined showed strong staining of the tumours with an anti-WT1 antibody, suggesting this may be useful in the diagnosis of these tumours.

Kawasaki disease, Epstein-Barr virus and coronary artery aneurysms.

AIM: To establish whether infection with Epstein-Barr virus (EBV) contributed to the development of coronary artery lesions in a six year old child with an aneurysm and stenoses of the coronary arteries and suspected Kawasaki disease. METHODS: Postmortem paraffin wax sections of the coronary artery and myocardium were examined by in situ hybridisation for expression of EBER-1 (EBV-encoded RNA-1). Positive controls consisted of an EBV positive case of Hodgkin disease and a case of posttransplantation lymphoma. RESULTS: No EBER-1 positive cells were identified in either myocardium or walls of the coronary artery. CONCLUSIONS: Although EBV has been implicated in the aetiology of Kawasaki disease and development of coronary artery lesions, this process was not confirmed in this patient. It is likely that an unusual immunological reaction to a primary EBV infection with suspected deregulation of T helper cell activity leads to severe coronary artery damage in early childhood.

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).

We report a reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family. The proband was originally referred because of short stature and a webbed neck, but further investigations showed that she had mental retardation and a congenital heart defect, and had inherited an unbalanced form of the maternal translocation, 46, XX,der(8)t(8;18)mat. The proband's sister spontaneously aborted an 11 week fetus with multiple major system malformations, which was found to have a 46,XY, der(18)t(8;18)mat karyotype. The phenotypic findings of the affected subjects are discussed.

Intrapericardial lymphangioma presenting as neonatal cardiac tamponade.

We report a unique case of cardiac tamponade in a newborn due to an intrapericardial lymphangioma. Echocardiography and magnetic resonance imaging suggested that the mass, which was situated between the right atrium and the aortic root, was unsuitable for primary resection. A pericardial window was performed, and over the next 16 months the tumor spontaneously regressed.

Pulmonary eosinophilia in sudden infant death syndrome.

A recent immunohistochemical study found increased numbers of eosinophils, but no mast cells, in the pulmonary parenchyma of infants who died of sudden infant death syndrome (SIDS). The present study tested the hypothesis that this pulmonary eosinophilia could be IgE-mediated. Histomorphometry was used to compare the numbers of eosinophils, mast cells, and IgG-, IgA-, IgM- and IgE-expressing lymphoid cells in the lungs of two groups of infants. Twenty-eight subjects aged less than 1 year were selected from post-mortem records of infant deaths between 1989 and 1992. Fourteen were cases of SIDS and these infants were matched for age and gender to 14 controls who died of other non-pulmonary conditions. Immunohistochemical stains were used and positive cells were counted on six peribronchial and six subpleural fields. The numbers of eosinophils in both peribronchial and subpleural regions were significantly higher in SIDS compared with controls (P = 0.0071 and P = 0.041, respectively). The numbers of IgA-expressing lymphoid cells were also significantly increased in SIDS cases (P = 0.042). There were no differences in IgG, IgM or IgE expression or in mast cell numbers. These results confirmed that pulmonary eosinophils are increased in SIDS, but not through an IgE-mediated pathway.

Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.

We report on a family in which 1 males infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann-Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal-recessive inheritance, or of a dominant mutation with parental mosaicism.

Histological changes in the left and right ventricle in hearts with Ebstein's malformation and tricuspid valvar dysplasia: A morphometric study of patients dying in the fetal and perinatal periods.

Both Ebstein's malformation and the related tricuspid valvar dysplasia are often associated with tricuspid regurgitation, and impaired right ventricular function may develop. Impaired function of the left ventricle in Ebstein's malformation has also been described. Interstitial fibrosis has been shown in the right and left ventricles of hearts with Ebstein's malformation from neonates, children, and adults. The objective of this study was to determine whether interstitial fibrosis seen in Ebstein's malformation is an intrinsic part of the congenital malformation or is acquired. From the fetal and perinatal periods, we compared 13 hearts with Ebstein's malformation (6 isolated and 7 with additional abnormalities) and 11 with tricuspid valvar dysplasia (3 isolated and 8 with additional abnormalities) with 16 controls. Three adult cases of isolated Ebstein's malformation in patients aged 17 to 20 years, were compared with 5 controls. The percentage of interstitial fibrous tissue and the thickness of the endocardium in the right and left ventricles were measured using histomorphometry. There were similar findings in Ebstein's malformation and tricuspid valvar dysplasia. Of 24 fetal and perinatal cases, 23 had normal interstitial fibrous tissue. Interstitial fibrosis was found in the right ventricle of only 1 perinatal heart with Ebstein's malformation and pulmonary stenosis. Of the 9 fetal cases, 4 had minimal right ventricular endocardial thickening (up to 10 µm). The left ventricular endocardium was normal in this group. Of the 6 perinatal cases with isolated Ebstein's malformation or tricuspid valvar dysplasia, 4 had right and 2 had left ventricular endocardial thickening (up to 345 µm). Of the 3 adult hearts with Ebstein's malformation, 2 had right ventricular endocardial thickening (47 and 225 µm) and 2 had right and 1 had left ventricular interstitial fibrosis. These results indicate that in both Ebstein's malformation and tricuspid valvar dysplasia the endocardial thickening develops in perinatal life, and in Ebstein's malformation the interstitial fibrosis develops in later life.

Pulmonary immunopathology of sudden infant death syndrome.

Sudden infant death syndrome (SIDS) is the most common cause of postneonatal mortality in the UK. Pathological investigations have shown evidence suggestive of respiratory obstruction with subsequent hypoxia leading to death. We examined 48 infants who died of SIDS and 30 who died of other, non-pulmonary, causes and identified pulmonary eosinophil and neutrophil leucocytes, mast cells, and T and B lymphocytes by immunocytochemistry. Positively stained cells were counted in the parenchyma and around the bronchi without knowledge of the tissue source. The results showed three times more eosinophils in the lungs of infants who died of SIDS (27.61 vs 7.91 [99% CI 1.76-5.87] cells/mm2 for parenchyma) accompanied by increased T lymphocytes and B lymphocytes. There were more peribronchial mast cells in the SIDS group (22.1 vs 14.7 [1.03-2.10] cells/mm2) and insignificant differences in neutrophils and parenchymal mast cells. There were significant associations between eosinophil, B lymphocyte, and T lymphocyte numbers. These findings provide evidence for an abnormal T lymphocyte-mediated pulmonary inflammatory response in SIDS. Products of eosinophil degranulation can cause epithelial damage and pulmonary oedema, which could cause the respiratory obstruction and hypoxia associated with SIDS.

Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II.

We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed.

Assessment of the accuracy of cytology in women referred for colposcopy and biopsy: the results of a 1 year audit.

The results of weekly colposcopy review meetings have been audited for 1 year and cases where there was a discrepancy between the referral cervical smear and the initial colposcopy biopsy have been analysed. New referrals (n = 476) for colposcopy were studied. In the final outcome 80% of 326 women referred for moderate or severe dyskaryosis were found to have cervical intraepithelial neoplasia (CIN) grade II or III or invasive carcinoma. Three women found to have invasive carcinoma had been referred for severely dyskaryotic smears. Twenty women were referred for smears with cell changes suggesting glandular neoplasia: five were found to have adenocarcinoma in situ, whereas eight had CIN and seven had negative biopsies. The results justify the referral policy and demonstrate the need for further investigation when initial colposcopic biopsies are negative.

Protein gene product (PGP) 9.5 as a reliable marker in primitive neuroectodermal tumours--an immunohistochemical study of 21 childhood cases.

A number of antibodies to neural proteins have been used to demonstrate neuronal differentiation in primitive neuroectodermal tumours. One of them is protein gene product (PGP) 9.5, a neuronal protein isolated from brain, whose function is unknown at present. We have studied differentiation in 21 cases of primitive neuroectodermal tumours of the CNS in children. Immunocytochemical staining was performed for such neuronal markers as: PGP 9.5, neuron specific enolase and synaptophysin, a glycosylated protein associated with synaptic vesicles. Positive staining for PGP 9.5 was present in 16 cases (strong staining in 12), for neuron-specific enolase in 16 cases (strong staining in 10) and for synaptophysin in 10 cases (strong staining in six). Both PGP 9.5 and synaptophysin showed a clear staining pattern with less non-specific background than with neuron-specific enolase. Our findings demonstrate the value of using more than one antibody marker in assessing neuronal differentiation in tumours. The high incidence of positive staining with antibody to PGP 9.5 suggests that this is an essential marker in the panel of antibodies used for the identification of primitive neuroectodermal tumours.