Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes. Mice expressing p53(Δ31), a mutant p53 lacking the C terminus, model dyskeratosis congenita. Accordingly, the increased p53 activity in p53(Δ31/Δ31) fibroblasts correlated with a decreased expression of 4 genes ...

fanconi syndrome was first described in 1927 by g.fanconi. fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...

The elastic wave equation in spherical coordinates is solved on a spherical section by a Chebyshev spectral method. In the presented algorithm the singularities in the governing equations are avoided by centering the physical domain around the equator. The highly accurate pseudo-spectral (PS) derivative operators reduce the required grid size compared to nite-diierence (FD) algorithms. The non-...

Plasma and urine free and acyl carnitine were measured in 19 children with nephropathic cystinosis and renal Fanconi syndrome. Each patient exhibited a deficiency of plasma free carnitine (mean 11.7 +/- 4.0 [SD] nmol/ml) compared with normal control values (42.0 +/- 9.0 nmol/ml) (P less than 0.001). Mean plasma acyl carnitine in the cystinotic subjects was normal. Four subjects with Fanconi syn...

The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene produc...

Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute ...

A reação en tre o ligante (2-hidroxibenzil)(2-metilpiridil) amina (Hbpa) e Zn(OAc)2.2H2O (estequiometria 2:1), em solução metanólica, rendeu cristais incolores de [Zn(bpa)2]. A estrutura cristalina do complexo foi determinada por difração de raios-X, no sistema cristalino triclínico, grupo espacial P 1 (No. 2) e dimensões de cela a = 9,504(1), b = 11,984(1) c = 11,966(1)Å, α = 79,36(2), β = 89,...