<Emphasis Type="Italic">NPHS2</Emphasis> mutations

Objective  To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). Methods  Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. Results   NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations. Conclusion   NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.     

Nekrotisierende Pneumonie mit<Emphasis Type="Italic"> Staphylococcus aureus</Emphasis> (<Emphasis Type="Italic">pvl</Emphasis>-Gen positiv)

Background

Recently, an association between lethal pneumonia in young immunocompetent patients (median age 14.8 years) and the presence of Staphylococcus aureus strains carrying the gene for Panton-Valentine leukocidine (PVL) was described.

Patient

Here we report on a 12-year old girl, who was admitted to the hospital 3 days after the onset of a febrile infection with tachydyspnea. Leukopenia was found haematologically. Radiologically, pleural effusion and pulmonary infiltrates were demonstrated. The progression of the disease was rapid, leading to cerebral death within 10 days of diagnosis.

Results

A PVL-positive S. aureus strain was cultured from relevant samples both pre and post mortem.

     

Associations of <Emphasis Type="Italic">NKX2</Emphasis>-<Emphasis Type="Italic">5</Emphasis> Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis

The NKX2-5 gene is a vital regulator of cardiac formation and development. Recently, the roles of NKX2-5 63A>G polymorphism and 606G>C polymorphism in congenital heart disease (CHD) have been extensively studied, with conflicting results. The aim of the present study was to better elucidate the associations between NKX2-5 genetic polymorphisms and CHD risk through a meta-analysis. Eligible articles were searched in PubMed, MEDLINE, EMBASE, Google Scholar and CNKI up to December 2015. Odds ratios (ORs) and 95 % confidence intervals were used to detect any potential associations between NKX2-5 genetic polymorphisms and CHD risk. Heterogeneity between studies was assessed with Q test and I ² statistic. Subgroup analysis and sensitivity analysis were performed to test the reliability and stability of the results, and funnel plots were applied to estimate publication bias. A total of 13 case–control studies including 2245 CHD patients and 1953 healthy controls were analyzed. The overall meta-analysis results showed that NKX2-5 63A>G polymorphism and 606G>C polymorphism were not significantly associated with CHD risk. Subgroup analysis was further performed for NKX2-5 63A>G polymorphism based on types of CHD and ethnicity of study population, and similar negative results were found in all subgroups. Our findings suggested that NKX2-5 63A>G polymorphism and 606G>C polymorphism may not be implicated in the pathogenesis of CHD.