RESUMO
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.
RESUMO
BACKGROUND: Renal transplantation is the most optimal way to manage children with end-stage renal disease. Despite its benefits, pediatric renal transplantation is a challenge for several transplantation centers in terms of achieving a satisfactory outcome. We sought to compare the long-term outcome of pediatric versus adult recipients who underwent renal transplantation. METHOD: We examined, 2631 recipients of a first kidney from a living donor between 1982 and 2002. The two groups were matched for immunosuppressive therapy and number of HLA mismatches. The patients were divided into a pediatric (n=301; age
Assuntos
Transplante de Rim/fisiologia , Doadores Vivos , Adolescente , Adulto , Fatores Etários , Criança , Sobrevivência de Enxerto , Humanos , Falência Renal Crônica/cirurgia , Transplante de Rim/mortalidade , Estudos Retrospectivos , Análise de Sobrevida , Fatores de Tempo , Resultado do TratamentoRESUMO
INTRODUCTION: Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. The objectives of the present study were to identify the most common organisms causing sepsis and their associations with thrombocytopenia. METHODS: This is a retrospective case analysis of blood culture positive patients between March 2003 and July 2007 in a single centre. We enrolled 53 eligible neonates whose blood culture yielded positively for any organism. Blood for the culture was obtained from a peripheral vessel. The data was analysed for differences in platelet and neutrophil count in terms of the microorganisms causing sepsis using chi-square and Fisher's exact tests, analysis of variance and Kruskal-Wallis, as appropriate. RESULTS: The most common organism in the blood culture was Enterobacter spp. with 21 cases (39.6 percent) and the least common was coagulase-positive Staphylococcus spp. The most common organisms in infants with normal weight and early onset sepsis were coagulase-positive Staphylococcus spp. (50 percent and 36.7 percent, respectively), while in other neonates with low birth weight, very low birth weight and late onset sepsis, the most common organism was Enterobacter spp. (40.9 percent, 71.4 percent and 47.8 percent, respectively). The patients with Enterobacter spp. sepsis had a higher incidence of thrombocytopenia. The mortality rate was 15.1 percent (8/53 cases), which was significantly higher among those with the Enterobacter spp. sepsis (five cases, p-value is 0.033). CONCLUSION: Our study shows the changes in the pattern of late onset neonatal infections in the neonatal intensive care unit. Enterobacter spp. is the most common organism causing neonatal sepsis accompanying thrombocytopenia.