Dwarfism associated with prenatal ventriculomegaly.
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Biomedical subjects
Publications and source records attributed to L Y Shih.
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Hereditary deficiency of factor VII is demonstrated in a Chinese family. The proposita was a 32-year-old female with bleeding diathesis consisting of spontaneous ecchymosis, menorrhagia and recurrent haemarthrosis. The prothrombin time was prolonged and the prothrombin and proconvertin test was 10% of normal. The activated partial thromboplastin time and the Stypven-cephalin clotting time were normal. The prolonged prothrombin time could be corrected by the addition of normal serum, but not by adsorbed normal or coumadin plasma. The factor VII level was 3.6% of normal. One of her brothers had bleeding symptoms and died at age 25, suggesting that factor VII deficiency might have been present. 13 of her family members had partial deficiency of factor VII with plasma levels ranging from 24 to 50%. These results suggest an autosomal recessive inheritance with a homozygous state occurring in the proposita and possibly in her brother, and a heterozygous state occurring in 13 of her family members. Our study marks an extensive survey of factor VII deficiency in an Oriental family.
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We have studied the effects of recombinant human thrombopoietin (TPO, mpl ligand) on the megakaryocyte colony formation from control human bone marrow cells, human leukemia cells at diagnosis, and human bone marrow cells after induction chemotherapy for acute leukemias. In the control human bone marrow cells from four adults and nine children who had localized malignancy and histologically normal-looking marrow. TPO alone effectively stimulated megakaryocyte colony formation, and interleukin-3 (IL-3) synergized this. In 17 patients (13 adults and four children) with acute myeloid leukemia (AML) at diagnosis, TPO stimulated leukemic colony formation in only one patient with FAB M7 subtype. In 11 children with acute lymphoblastic leukemia (ALL) at diagnosis, TPO did not enhance leukemic colony formation. After 17 courses of induction chemotherapy, nine for AML and eight for ALL, TPO stimulated megakaryocyte colony formation to a level of 51%, of that in the control human bone marrow cells. This may suggest that the administration of TPO to patients with M7 subtype warrants caution, whereas it is probably safe to give TPO at any time to patients with ALL. The administration of TPO to patients with acute leukemias after induction chemotherapy could stimulate megakaryocytopoiesis.