Alport's syndrome--a case report.

Alport's syndrome (hereditary nephritis with deafness), is an uncommon disease and is seen very infrequently in India. We report a fatal case in a young girl with characteristic ultrastructural changes in the kidney thus emphasising the exception noted in the observation that females have a better prognosis compared to males.

Perinatal autopsy--a seven-year study.

A retrospective analysis of autopsies conducted on perinatal deaths during 7 years period (Oct 1983 to Sept 1990) was done. There were 650 neonatal deaths and 944 still births during the study period. Autopsy rates among neonates and still births were 33% and 4.9% respectively. There ware significant findings in 97.2% of neonatal deaths and in all still births. Pulmonary lesions followed by congenital malformations were the major pathological findings. Infection was observed among smaller number of babies compared to other Indian studies. Autopsy revealed many internal congenital malformations which were not diagnosed clinically. Autopsy changed or added to clinical diagnosis in 59.5% of cases. Perinatal autopsy is highly productive in our set up.

Application of the AgNOR method to distinguish pseudoepitheliomatous hyperplasia from squamous cell carcinoma.

The AgNOR stain was performed on seventeen cases of pseudoepitheliomatous hyperplasia of the oral cavity and genital tract, seventeen cases of squamous cell carcinomas of the same regions, and nineteen cases of squamous cell carcinoma of the cervix, to determine whether the stain could help to distinguish pseudoepitheliomatous hyperplasia from squamous cell carcinoma. No constant relationship of the AgNOR score to the grade of the lesion could be determined. Follow up of some of the cases was possible. Here, too, it was seen that the AgNOR score could not reliably predict which cases of pseudoepitheliomatous hyperplasia would progress to squamous cell carcinoma, and which cases of squamous cell carcinoma would suffer a relapse.

Accuracy of fine needle aspiration cytology of abdominal masses without radiological guidance.

This study was undertaken to evaluate the accuracy of FNAC of abdominal masses without the help of radiological guidance and to determine factors which affect the outcome of the procedure. Five hundred consecutive patients were studied. FNAC was reported by a single cytopathologist without knowledge of subsequent histology. In calculating indices of accuracy of FNAC only those patients in whom both FNAC and histology reports were available (N = 383) were considered. The overall incidence of unsatisfactory specimens was 5.6%. Consistency of the mass did not affect accuracy of FNAC. However, age (below 12 years) plane of the swelling, mobility of mass and size of the swelling, all significantly affected the adequacy of cytological yield. The overall true positive rate was 100.0% and there were no false positives. The true negative rate was 40.2% and false negative rate was 70.9%. The high false negative rates in hepatic and pancreatic lesions can be reduced by imaging techniques. Luminal organs had poor accuracy rates. The overall accuracy rate was 73.5%, comparable to that reported in literature. A positive diagnosis of malignancy had a 100% predictive value. Overall, it appears that nonguided FNAC is as accurate as guided FNAC except for very small lesions or discrete lesions such as hepatic secondaries where guidance may be useful.

Platelet function in acute leukemias.

Bleeding time, clot retraction, platelet factor 3 availability and platelet aggregation in response to ADP, epinephrine, collagen and ristocetin were studied in 13 cases of acute leukemia which included 5 cases of acute myeloid leukemia, 2 of chronic myeloid leukemia in blast crisis and 6 of acute lymphoblastic leukemia. More than one abnormality was seen in all the patients. Defects in bleeding time, clot retraction and platelet factor 3 availability were encountered in 43% of cases. Platelet aggregation responses to all the reagents were significantly impaired. There was, however, no consistency in the pattern of the defects.

Silicotic alveolar proteinosis with bilateral spontaneous pneumothorax.

Bilateral spontaneous pneumothorax due to silicotic alveolar proteinosis is reported because of its rarity.

Platelet function in chronic leukemias.

Bleeding time, clot retraction, platelet factor 3 availability and platelet aggregation in response to ADP, epinephrine, collagen and ristocetin were studied in 12 cases of chronic leukemia which included eight of chronic myeloid leukemia, two of chronic lymphatic leukemia and two of CLL related disorders. One or more abnormalities in platelet function were detected in all the cases. Among the cases of CML, bleeding time was prolonged in one, clot retraction was impaired in one and PF3 availability was decreased in one case. Defects in platelet aggregation were variable. Among the cases of CLL and CLL related disorders, bleeding time was prolonged in two, clot retraction was impaired in one and PF3 availability was decreased in three cases. Platelet aggregation responses were significantly impaired in all the cases.

Malignant granular cell tumour. A case report and review of literature.

A rare case of malignant granular cell tumour of the anterior abdominal wall in a woman of 30 years is reported and and the relevent literature is briefly reviewed.