1/13. clinical conference: Severe obstructive lung disease in a 14-year-old girl with alpha-1 antitrypsin deficiency.Severe, largely irreversible obstructive lung disease, compatible with emphysema, was found in a 14-yr-old white girl who had been considered to have chronic asthma. She also presented a serum alpha-1 antitrypsin deficiency. serum values for alpha-1 antitrypsin on two occassions were 95 and 105 mg/100 ml; Pi type was SZ. A family survey disclosed a 13-yr-old brother with the same pattern of alpha-1 antitrypsin deficiency. His serum value was 122.5 mg/100 ml; Pi type was SZ. He was asymptomatic and showed minimal pulmonary function abnormalities.- - - - - - - - - - ranking = 1keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
2/13. Bilateral deep venous thrombosis in protein s deficiency. Detection by radionuclide venography.patients with primary hypercoagulopathies often present with recurrent, spontaneous deep venous thrombosis and pulmonary embolism. An adolescent eventually diagnosed with protein s deficiency presented with unilateral deep venous thrombosis documented ultrasonographically. Scintigraphic studies showed no evidence of pulmonary embolism but revealed a complete absence of deep venous flow in both lower extremities, the pelvis, and the abdomen. Subsequent ultrasonography and CT scanning documented this marked thrombotic extension. Radionuclide scintigraphy may play an important role in the serial evaluation of primary hypercoagulable states, particularly when pulmonary scintigraphy is combined with bilateral, lower extremity venography.- - - - - - - - - - ranking = 0.0022076603281674keywords = deficiency (Clic here for more details about this article) |
3/13. protein c deficiency associated with venous thromboembolism.protein c deficiency has been reported to be associated with a high risk for thromboembolism. We report three patients with protein c deficiency: one suffered from left renal vein thrombosis, another from recurrent venous thrombosis of the legs complicated by pulmonary embolism and the third from an extensive thrombosis of the splanchnic veins with partial budd-chiari syndrome. We discuss the unusual sites of venous thrombosis in protein C deficient patients, the factors which may act as thrombotic trigger and the strategy of long-term prevention.- - - - - - - - - - ranking = 0.0026491923938008keywords = deficiency (Clic here for more details about this article) |
4/13. Angioimmunoblastic lymphadenopathy with dysproteinemia: report of a case in infancy with review of literature.A case of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD) in infancy is reported. The disease had a mild onset with generalized lymphadenopathy, hepatosplenomegaly, thrombocytopenia, polyclonal hypergammaglobulinemia, and T-cell deficiency. The AILD course lasted more than 100 months, alternating clinical remission to recurrent relapses. hepatitis b viral infection suddenly evolving to hepatic failure was the cause of death. From a rapid survey of the present knowledge, the nosology, immunological features, and therapy of AILD are discussed and a possible presumptive pathogenetic pathway is proposed.- - - - - - - - - - ranking = 0.00044153206563347keywords = deficiency (Clic here for more details about this article) |
5/13. Glycoprotein-180 deficiency: genetics and abnormal neutrophil activation.Neutrophil function was studied in a patient with polymorphonuclear leukocyte (PMN) glycoprotein-180 deficiency and in her parents. PMNs of the patient had abnormal chemotaxis, phagocytosis, adherence, surface charge, and membrane-associated events of activation. Selective defects to C3b, immunoglobulin g (IgG), phorbol myristate acetate (PMA) and N-formyl-methionyl-leucyl-phenylalanine (FMLP) are described, although C3b receptor density was normal. The parents were found to have abnormal adherence to nylon-wool fibers, abnormal transmembrane potential depolarization with PMA, and reduced amounts of glycoprotein-180 in their PMNs. These studies provide further evidence that the oxidative burst has several different pathways for activation. They demonstrate that the absence of a single PMN surface glycoprotein is associated with a broad spectrum of PMN functional abnormalities. Finally, the observations made in the parents support an autosomal recessive mode of inheritance.- - - - - - - - - - ranking = 0.0022076603281674keywords = deficiency (Clic here for more details about this article) |
6/13. Alpha1-antitrypsin deficiency with severe panniculitis. Report of two cases.Two patients with profound decrease of alpha1-antitrypsin (PiZZ) presented with severe pannicultis (Weber-Christian disease); one had systemic panniculitis including pancreatitis. Another possible case is quoted from the literature. Although milder forms of panniculitis can have normal Pi phenotypes and alpha1-antitrypsin levels, the marked reduction of antiproteolytic activity found in PiZZ homozygotes may predispose to or aggravate the lesions of Weber-Christian disease.- - - - - - - - - - ranking = 0.72106591459387keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
7/13. factor xiii deficiency associated with Klippel-Weber disease, platelet dysfunction and cryofibrinogenemia.A 23-year-old woman with factor xiii deficiency was presented. The patient had no consanguinity, but familial traits were present. A bleeding tendency and poor wound healing had been noted in the patient since birth. She had hemangiomas in the leg and vulva (Klippel-Weber disease). Hematologic studies revealed platelet dysfunction, cryofibrinogenemia and mild chronic disseminated intravascular coagulation with prolonged PT and PTT, hypofibrinogenemia, a high turnover rate of 125I-fibrinogen and mild elevation of fibrinogen-fibrin degradation products, beta-thromboglobulin and platelet factor 4. A decrease in clot retraction and a marked reduction in maximal amplitude of thrombelastogram were also found. The assay of the factor XIII level was 10% by the antiserum inhibition method, and the assay of subunits A and S were 16 and 29%, respectively, by the electroimmunoassay method. Transamidase activity of factor XIII was 26%. The level of factor XIII of her sister was low, similar to that of the patient. The concentration of cold-insoluble globulin in EDTA-plasma was 36.5 mg/dl.- - - - - - - - - - ranking = 0.0022076603281674keywords = deficiency (Clic here for more details about this article) |
8/13. Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia.Despite very low amounts of albumin (1.7 mg/100 ml) the total plasma protein concentration of a patient with congenital analbuminemia was only slightly reduced to 6.3 g/100 ml. The lack of albumin is compensated by high concentrations of many other plasma proteins. Among the plasma proteins measured, alpha 1-antitrypsin showed a particularly high level. To investigate the underlying mechanism of this increase we purified plasma alpha 1-antitrypsin from the patient, labelled it with 125I, and studied its turnover in the analbuminemic patient and two normal volunteers. A half-life of 15 days in the patient compared with 7.5 and 8 days in the normal volunteers was found. The calculated synthesis rate of alpha 1-antitrypsin was about twice as high in the patient as in the controls. Therefore, both a longer half-life and an increased synthesis rate contribute to the high level of alpha 1-antitrypsin in the plasma of the analbuminemic patient.- - - - - - - - - - ranking = 0.32793327353109keywords = antitrypsin, alpha (Clic here for more details about this article) |
9/13. portal vein thrombosis caused by protein C and protein s deficiency associated with cytomegalovirus infection.A 4-month-old girl who was examined because of splenomegaly had portal vein thrombosis, which apparently resulted from a combination of cytomegalovirus infection and deficiency of both protein S and protein C. The cytomegalovirus infection, by damaging endothelial cells, may have triggered a cascade of events that was ultimately expressed as portal vein thrombosis resulting from deficiency of proteins S and C.- - - - - - - - - - ranking = 0.0026491923938008keywords = deficiency (Clic here for more details about this article) |
10/13. Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.Some unsolved problems--late onset of anemia and growth retardation (at age 7 years), healthy siblings showing very low transferrin (TF) level, and unexplained mode of inheritance--were found in family members of a congenital atransferrinemia already reported in 1972. The long-term clinical, laboratory, and developmental observations revealed that after 5 years of apo-TF supplementary therapy the patient's anemia gradually disappeared, and he started to grow again without further therapy. Immunoelectrophoretic study disclosed a severe deficiency of both TF and haptoglobin in the patient. The recovery from his anemia and the resumption of his physical development were dependent only on his TF level: that is, from a negligible level it increased to 10-20 mg/dl (normal, 205-370 mg/dl), a level similar to that of his TF-deficient siblings, who had been in good health since birth. The TF analysis of the patient and his family suggests that the minimum TF requisite in this family may be close to 10-20 mg/dl; subjects with more than 20 mg/dl are apparently healthy; with less than 10 mg/dl they may develop severe growth retardation and anemia, and extreme deficiency may be lethal. Also, coexisting haptoglobin deficiency might alleviate hemosiderosis. Further, the isoelectric focusing study disclosed that there was only a small amount of TF variant in these siblings including the patient. The study of the family confirmed that this variant was produced by an allelic gene derived from their father. So, the original diagnosis of congenital atransferrinemia should be revised as familial hypotransferrinemia transmitted with autosomal recessive mode, and the subjects with a recessive character may be compound heterozygotes of the "variant" allele and the "null" allele.- - - - - - - - - - ranking = 0.0013245961969004keywords = deficiency (Clic here for more details about this article) |
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