Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup.

Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (LIS 1 and DCX) has allowed etiologic diagnosis of this disorder. We describe a patient with lissencephaly in whom fluorescence in situ hybridization and DCX mutation analysis determined etiologic diagnosis, allowing precise genetic counseling and providing prenatal diagnosis for the family.

Possible role of mononuclear phagocytes in clearance of immune complexes in pulmonary tuberculosis.

Phagocytic activity of peripheral blood mononuclear cells (PBMC) was investigated in 30 patients with pulmonary tuberculosis. The test was done using neutral red. Higher percentages of phagocytic cells were detected with PBMC of tuberculosis patients as compared with controls. An inverse relationship was observed between neutral red positive cell counts vs. relative percentages of several proteins (IgG, C3 and C4) in PEG precipitates in tuberculosis patients. It was interpreted that phagocytes might have mopped up the CICs via their surface Fc receptors.

Treatment of childhood acute lymphoblastic leukaemia with the BFM regimen.

Thirty-eight children with acute lymphoblastic leukaemia were treated with the BFM regimen. Thirty-six (94.7%) achieved complete remission (CR). Twenty 58.8%) of 34 evaluable patients are in continuous complete remission (CCR) at a median follow-up of 33 (range 19-81) months. Long-term disease-free survival was better in the 2-9 years age group (83%) when compared to the 10-14 years group (43%) (P < .05).

Treatment of acute lymphoblastic leukaemia in adults with modified BFM regimen.

Sixty-two adults with acute lymphoblastic leukaemia (ALL) were treated with a modified BFM regimen. Forty-two (70%) achieved complete remission (CR). Twenty-one percent of all evaluable patients and 32.4 percent of complete responders are in continuous complete remission (CCR) at a median follow-up of 41 months (range 24-81 months). Long-term survival was better in T- ALL (47.1%) when compared to precursor-B ALL (4.8%) (P < 0.04).

Transfusion associated HIV infection in patients with haematologic disorders in southern India.

Seventy patients with congenital coagulation disorders (group A) and 202 other patients (group B) attending the Haematology clinic at the Christian Medical College and Hospital, Vellore (India) were screened for HIV infection between March 1989 and April 1991. Fifty five patients in group A and 131 patients in group B had received blood or blood products in the past. Nineteen transfused patients (9 in group A and 10 in group B) had received blood or blood products exclusively from the hospital blood bank and none of them was HIV infected. Among the remaining 167 transfused patients, 14 (30.4%) of the 46 patients in group A and 6 (4.9%) of the 121 patients in group B were found to be positive for HIV. In group A, 13 of the 14 infected patients had received commercially available cryoprecipitate which was thus found to be the most frequent source of infection. In group B the source of infection was most probably unscreened HIV infected blood which was transfused.

Surgery in patients with congenital coagulation disorders.

BACKGROUND. Surgery is occasionally necessary in patients with congenital coagulation disorders. Major surgery for patients with haemophilia was not being done in India until recently. This paper reports the experience of a single referral centre. METHODS. The data of 52 patients who were operated upon were collected from the hospital records retrospectively between 1984 and 1986 and prospectively thereafter. They included the surgical procedure performed, replacement therapy used and complications encountered. RESULTS. Fifty-nine procedures were performed of which 26 were major, 30 minor and 3 were diagnostic angiograms. Blood components produced in the hospital blood bank were commonly used for replacement and primary haemostasis was achieved in all patients. Delayed bleeding due to inadequate factor levels occurred in 12 procedures and was controlled by increasing the factor replacement. One patient died of suspected acute myocardial ischaemia. CONCLUSION. In India surgical procedures can be safely performed in patients with congenital coagulation disorders.

Possible role of streptokinase-induced delayed hypersensitivity and eosinophilia in pathogenesis of ankylosing spondylitis.

Present study relates to the results of investigations on 16 patients with Ankylosing spondylitis (AS). Age of the patients ranged from 16 to 44 (median 25) years. Male female ratio was 4.3:1. Sacroileitis was detected in all the patients. Seven patients each had stage 1 and 2 disease. Two other patients had stage 3 disease. Lower mean Hb per cent was detected among patients as compared to control groups. Twelve of 16 (75 per cent) patients had eosinophilia. HLA-B27 antigen was detected in 10 of 16 (62.5 per cent) patients. Streptokinase-induced delayed sensitivity was detected in 10 of 16 (62.5 per cent) patients. Anti-streptolysin 'O' antibodies were detected in 2 of 16 patients' sera. Moderate negative correlation was found between the size of induration of skin test and haemoglobin concentration (P < 0.05). Possibly, delayed hypersensitivity might induce both eosinophilia as well as anaemia among AS patients.

Serum protein profile in normal pregnancy and in relation to parity.

Forty pregnant females of third trimester and their twenty non-pregnant controls were screened for Hb%, PCV and serum protein differentials in relation to parity. Paper electrophoresis method revealed significant rise in mean levels of serum alpha 1, alpha 2 and beta-globulins in pregnant females as compared to non-pregnant controls, which may be due to the rise in pregnancy-associated-proteins. Radial immunodiffusion method revealed rise in mean serum IgM level with increasing parity, whereas a decrease in mean serum IgG level was observed which might be due to the placental membrane-transfer and/or decreased IgG synthesis. Haematological investigations revealed decreased Hb% and PCV which may have been caused both due to increased demand of nutrients as well as by haemodilution, associated with water retention during pregnancy.