1/75. Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation.dyskeratosis congenita is recognized by its dermal lesions and constitutional aplastic anemia in some cases. We report successful allogeneic bone marrow transplantation in two siblings with this disease from their sister, and their long term follow-up. We used reduced doses of cyclophosphamide and busulfan for conditioning instead of total body irradiation. Also, we report late adverse effects of transplantation which are not distinguishable from the natural course of disease.- - - - - - - - - - ranking = 1keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
2/75. Abnormal tryptopham metabolism in congenital erythroid hypoplastic (diamond-Blackfan) anaemia.tryptophan loading was performed in a child with diamond-Blackfan anaemia as well as in his parents and two control persons. There was a fivefold increase of anthranilic acid and kynurenine excretion beside a marked generalized aminoaciduria in the proband; in the parents and the controls no such phenomenon could be demonstrated. The importance of the finding is discussed and investigation of tryptophan metabolism before the first blood transfusion is recommended. The finding cannot be used as a heterozygote test.- - - - - - - - - - ranking = 0.0078779480835554keywords = congenita (Clic here for more details about this article) |
3/75. Aplastic anemia in a patient with rothmund-thomson syndrome.This report is the first to describe constitutional aplastic anemia in a patient with rothmund-thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although rothmund-thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.- - - - - - - - - - ranking = 0.0019694870208889keywords = congenita (Clic here for more details about this article) |
4/75. The significance of lymphocytosis in congenital hypoplastic anemia.Two infants with congenital hypoplastic anemia had an unusual number of lymphocytes in their peripheral blood and in the bone marrow. This caused an erroneous diagnosis of acute lymphocytic leukemia to be made in the first case and inappropriate therapy to be administered for three months. The second of these cases provided an unusual opportunity to study human erythrocyte precursor dynamics. Serial bone marrow aspirates, obtained after institution of treatment with a corticosteroid, revealed an initial increase in labeled lymphocytes, a concomitant decrease in their number, and the subsequent appearance of erythroid elements. These findings suggest that cells classified morphologically as lymphocytes may serve as erythroid precursors in human beings.- - - - - - - - - - ranking = 0.0098474351044443keywords = congenita (Clic here for more details about this article) |
5/75. Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia.Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility. A seven-year-old girl with Fanconi's anemia-like congenital aplastic anemia and concurrent asplenia without the congenital heart defects or the abdominal heterotaxia is reported. Asplenia was indicated using denatured red cells labelled with 51Cr, abdominal ultrasonography and computerized tomography. Immunological studies showed immunoglobulins (IgG, IgA, IgM), C3 and C4 levels within normal limits and the percentage of CD3, and C4 cells and the CD4/CD8 ratio decreased. The patient had not been exposed to recurrent pneumococcal infections. We think that isolated asplenia may occur in patients with Fanconi's anemia-like congenital aplastic anemia without the congenital heart diseases or abdominal heterotaxia.- - - - - - - - - - ranking = 0.015755896167111keywords = congenita (Clic here for more details about this article) |
6/75. Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood.The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.- - - - - - - - - - ranking = 0.0098474351044443keywords = congenita (Clic here for more details about this article) |
7/75. Aplastic anaemia: a review of cases at the University College Hospital, Ibadan, nigeria.Thirty male and 27 female patients were treated at the University College Hospital, Ibadan, over a 20 year period (January, 1971 to December, 1990) for aplastic anaemia. Age range was three months to 52 years with a median of 19 years. In 26 patients the aplasia could not be linked with a particular cause. Most patients in this category were students in secondary and tertiary institutions, office workers and casual labourers. Nineteen patients were automobile and factory workers who are exposed to lead while two were dealers in petroleum products. In two patients aplasia was linked to chloramphenicol ingestion while in three, the aplasia linked to the use of hair dye. Another three linked the aplasia to a past history of viral hepatitis. One patient had congenital aplasia of the marrow and one was a radiographer. Treatment included oxymethalone 100 mg given three times daily (tds) or intramuscular (i.m.) Durabolin 500 mg weekly. When these drugs were unavailable prednisolone 60 mg daily was administered. No patient had the benefit of bone marrow transplantation (BMT) or the superior drugs, e.g. anti-thymocyte globulin and cyclosporin A. This might have contributed to the poor prognosis as revealed by the survival pattern in which 24 patients died within six months of diagnosis while 19 survived 12 months. Seven patients died within 18 months and four others died within three years. Three patients were alive five years after presentation. death generally resulted from complications of the aplastic anaemia with gastro-intestinal bleeding, cerebro-vascular accidents and overwhelming infections.- - - - - - - - - - ranking = 0.0019694870208889keywords = congenita (Clic here for more details about this article) |
8/75. Circulating interferon in cytomegalovirus infected bone-marrow-transplant recipients and in infants with congenital cytomegalovirus disease.In a study concerning five CMV-infected bone-marrow-transplant recipients, five congenital CMV diseases and appropriate controls, presence of high levels of circulating interferon (IFN) was demonstrated exclusively during the course of CMV disease. This interferon was predominantly "immune" or gamma interferon (gamma-IFN). These results suggest that during CMV disease the interferon compartment of the immune response is modified.- - - - - - - - - - ranking = 0.0098474351044443keywords = congenita (Clic here for more details about this article) |
9/75. dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature.dyskeratosis congenita (DC) is a rare form of ectodermal dysplasia consisting of dystrophic nails, hyperpigmentation, and leukoplakia often associated with aplastic anemia. DC is considered to be an X-linked recessive trait, but affected females suggest genetic heterogeneity. We report an additional female with DC and review the world literature, indicating transmission in X-linked recessive, autosomal recessive, and autosomal dominant manners. The clinical and genetic aspects of DC are heterogeneous, and different patterns of inheritance are associated with distinct clinical manifestations. DC should be considered in the diagnosis of a patient with any features of the syndrome regardless of gender. Conversely, DC should be considered in patients with aplastic anemia at any age.- - - - - - - - - - ranking = 0.0098474351044443keywords = congenita (Clic here for more details about this article) |
10/75. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase rna.Aplastic anaemia in adults is usually acquired, but rarely constitutional types of bone marrow failure can occur late in life. We assessed two families with onset of pancytopenia in adults and detected two novel point mutations in the telomerase rna gene (TERC) in each family. This gene is abnormal in some kindreds with dyskeratosis congenita. Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all had severely shortened telomeres, reduced haemopoietic function, and raised serum erythropoietin and thrombopoietin. Bone marrow failure of variable severity due to dyskeratosis congenita, historically characterised by associated physical anomalies and early pancytopenia, may be present in otherwise phenotypically normal adults, and can masquerade as acquired aplastic anaemia.- - - - - - - - - - ranking = 1.7465533977134keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
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