Resolution of cyclic neutropenia by intramuscular gamma globulin in a case of common variable immunodeficiency with predominantly antibody deficiency.
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Biomedical subjects
Publications and source records attributed to Z Currimbhoy.
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Twelve cases of endodermal sinus tumor were reviewed. There were 10 females and 2 males with a median age at presentation of 3 years. The primary site was sacrococcygeal in 4 patients, vaginal in 3, retroperitoneal in 2, and testicular, ovarian and left chest wall in one each. The diagnosis rested on histopathological examination and elevation of serum alfa feto protein levels (median 46,200 ng/ml). Two patients had Stage I disease, 9 had Stage III and one had Stage IV disease. Patients were managed by surgery and chemotherapy (BVP regime). All patients on BVP (even those lost at later stages), had achieved clinical remission with the first cycle of treatment.
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Clinical and hematological data of 9 cases with factor XIII deficiency is highlighted. The age at first bleed ranged from 3 days of life to 1 year. Seven of these 9 cases had bleeding from the umbilicus, 3 had recurrent subcutaneous and muscle hematomas, while 4 cases had CNS bleeds of which 3 expired. Routine coagulogram was normal, while clot solubility in 5 molar urea solution was abnormal in all cases. Factor XIII assay was not done in any. Patients were treated with plasma transfusion during episodes of bleeding. No patient received plasma transfusion as prophylactic therapy. The cumulative Indian data so far documented, inclusive of this series, shows a very high incidence of CNS bleeds (33%) in patients with this inherited coagulation disorder.
From May 1985 to December 1989, while doing blood counts on hospitalized children in Bombay, over 300 blood smears showed an impressive number of activated monocytes (AMs) and hemophagocytes (HPs). Many AMs resembled macrophages. The AM-HPs were visible in blood for 1-10 days, accompanied by a neutrophilia and a marked thrombocytopenia. Clinical features associated with these smears were fever, unresponsiveness to antibiotics, symptoms referable to the CNS and respiratory and/or gastrointestinal tracts, and bleeding. Ninety percent of affected children were under 2 years of age. The illness resolved completely or was fatal in 30%, with bleeding or respiratory failure, within 2 weeks. Children older than 2 years had underlying illness and high fever, and 40% died. Surgical candidates had obstructive gastrointestinal pathologic findings, from the stomach to the ileum. Babies under 1 month of age died, with clinical signs of deterioration and bleeding. Bone marrows were unremarkable. Few or no AM-HPs were seen. The fibrin split product tests were positive. Liver function test results were normal. Autopsies on six cases revealed edema and bleeding or thrombosis in the lungs, brain, and gastrointestinal tract. Only one neonate had a mild histiocytic infiltration in the lungs and liver. Features in common with and differences from virus-associated hemophagocytic syndromes are discussed.
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The case of a patient who, while being treated for an acute myocardial infarction, was found to have Fletcher factor deficiency with a Fletcher factor concentration of less than 1% of normal is described. Fletcher factor deficiency is associated with defects in several interrelated systems, including clotting, fibrinolysis and kinin generation, all of which play a role in the pathogenesis and evolution of infarction. The development of myocardial infarction in a patient who had severe Fletcher factor deficiency emphasizes the importance of alternate pathways for activation of these systems.
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