1/7. 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 = 1keywords = physical (Clic here for more details about this article) |
2/7. Fanconi's anemia in newborn.Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ray defect, hemivertebrae and thrombocytopenia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. fanconi anemia patient with bilaterally hypoplastic scapula and unilateral winging associated with scoliosis and rib abnormality.fanconi anemia is an autosomal recessive disease characterized by bone marrow failure, variable congenital physical abnormalities, and predisposition to hematologic malignancy and several solid tumors. The most frequently associated congenital malformations are those of the skeletal system, mainly radius and thumb. Herein, we report bilaterally hypoplastic scapula with unilateral winging associated with scoliosis and rib abnormality, a previously unreported skeletal abnormality in fanconi anemia patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. bone marrow imaging with 59Fe.Commerically available collimators are not suitable for the visual demonstration of the kinetics of 59Fe, because of its physical properties. A locally designed collimator, that provides integral visual information of the whole body distribution of erythropoietic marrow, is discussed. Wholebody scans of 4 individuals are also included to demonstrate the capabilities of the collimator.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia.A male adult patient suffering from Fanconi's anemia is described who was diagnosed 5 years before the onset of clinical symptoms by cytogenetic findings of chromosomeinstability in a lymphocyte culture. Repeated clinical, haematological and biochemical investigations of the untreated patient have been made during the observation period of six years. In the same period of time cytogenetic studies have been carried out which show no correlation in results compared with the clinical or physical findings. Four well defined lymphocyte clones have been discovered. The patient is still under observation of the clinic and the cytogenetic department.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.A 7 year old girl is described with congenital hypoplastic anaemia (diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakpoint is located between the RYR1 and the XRCC11 loci spanning a physical region of 5 Mb. There is no family history of DBA and the parents and two healthy sibs have normal karyotypes. This is the first report of a balanced translocation associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be inherited as an autosomal trait and our observation may indicate a candidate gene for the disorder in the 19q13 region.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation.Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the dna, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |