Cerebral thrombosis in childhood nephrosis

Sinovenous thrombosis is an uncommon but serious complication associated with nephrotic syndrome in children. We describe a 9-year-old Caucasian boy who presented with dehydration, vague neurological symptoms and seizures. A diagnosis of nephrotic syndrome was made during the course of hospitalization. The serum antithrombin III level was decreased and brain imaging showed cerebral sinovenous thrombosis. Anticoagulant therapy with heparin was commenced and the patient made a slow but gradual clinical, as well as radiological recovery. We describe this case and review available literature to highlight the importance of suspecting and recognizing this potentially life threatening complication and initiating early treatment.     

Analysis of the topics of a scientific paper

The items of a scientific paper are described and its contents are objectively analyzed. The title, the most powerful weapon to attract the reader should be short and bring up the information regarding the ideas within the article. The Introduction situates the reader, showing concisely the relevancy of the study. The purpose of the study the main question that should be answered along the article--should be written at the end of the Introduction. In Methods, the most used types of samples in the medical field are reported and analyzed. The different ways to display the Results and the special forms to express the data such as the use of tables and graphics are analyzed. The logic of the Discussion, respecting the sequence of the items of a scientific paper and the results obtained by the author are compared with the literature data. The Abstract written by items (structured) and the References and its situation on the text are also analyzed.     

Developing a study: initial strategy

In this article the preparation of a scientific paper and its project are described. The possible reasons that lead to rejection of an article such as the proper focus of the chosen journal, its writing and mistakes in the grammar are considered. The initial steps of a scientific paper such as the choice of an idea, literature search, and the selection of related articles are described. After a group discussion about the purpose of the paper and its methods (brainstorm), the project is described and its items (Introduction, Objective, Methods, Protocol, References and Chronogram) are analyzed.     

The genetics of thin basement membrane nephropathy

The diagnosis of thin basement membrane nephropathy (TBMN) usually is made on the basis of the clinical features or the glomerular membrane ultrastructural appearance. Only now are we beginning to understand the genetics of TBMN and the role of diagnostic genetic testing. The similarity of clinical and glomerular membrane features first suggested TBMN might represent the carrier state for autosomal-recessive Alport syndrome. This was confirmed subsequently by the demonstration that 40% of families with TBMN have hematuria that segregates with the corresponding locus ( COL4A3/COL4A4 ), and identical mutations occur in both conditions. To date, about 20 COL4A3 and COL4A4 mutations have been shown in TBMN, and these mainly are single nucleotide substitutions that are different in each family. The families in whom hematuria does not appear to segregate with the COL4A3/COL4A4 locus cannot all be explained by de novo mutations, and nonpenetrant or coincidental hematuria. This suggests a further TBMN locus. In patients with persistent hematuria, testing for COL4A3 and COL4A4 mutations to diagnose TBMN is problematic because of the huge size of these genes, their frequent polymorphisms, and the likelihood of a further gene locus. It is far more practicable to perform genetic testing to exclude or confirm X-linked Alport syndrome because this condition is the major differential diagnosis of TBMN and has a very different prognosis.     

Limited influence of haptoglobin genotypes on severe malaria in Ghanaian children

Haptoglobin (Hp) polymorphisms in sub-Saharan Africa have been associated with an increased risk of severe malaria. However, available data are inconclusive. We examined the role of Hp polymorphisms in susceptibility to Plasmodium falciparum infection and to severe malaria in northern Ghana. Three groups each of 290 age and sex-matched children with severe malaria, children with asymptomatic P. falciparum infection and aparasitaemic healthy controls were studied. Hp typing was based on PCR. In all children, Hp1-1, Hp2-1, and Hp2-2 occurred in 32.4%, 54.1%, and 13.5%, respectively. The prevalence of the Hp genotypes did not differ significantly between groups. However, Hp2 alleles were least common in healthy children (0.379), more frequent in parasitaemic controls (0.402), and most common in severe malaria patients (0.434; = 3.7; P = 0.06). In matched pair analysis, no Hp genotype increased the risk of severe malaria. However, using Hp1-1 as a reference, children with Hp2-2 exhibited a slightly increased risk of severe malaria (odds ratio, 1.6; P = 0.04). These results indicate that Hp polymorhisms may have a rather limited influence on the development of severe malaria.     

Discord, discordance, and concurrency: comparing individual and partnership-level analyses of new partnerships of young adults at risk of sexually transmitted infections

BACKGROUND AND OBJECTIVES: Partnerships that are discordant by demographic and behavioral characteristics or are concurrent may facilitate transmission of sexually transmitted infections (STIs) by bridging sexual networks. GOAL:: The goal of this study was to examine if STI risk within partnerships is associated with discordance and concurrency using the partnership as the unit of analysis. STUDY: One hundred ninety-two individuals, in 96 new partnerships, recruited from sexually transmitted disease and family planning clinics, underwent a computer-assisted interview; were tested for chlamydia, gonorrhea, and trichomonas; and their medical records were reviewed. Partnership variables for discordance by ethnicity, education level, number of lifetime partners, and relationship commitment, as well as concurrency and consistent condom use were tested for associations with partnership STI by chi-squared analysis and logistic regression. Associations between individual level STI, individual characteristics, relationship commitment, and concurrency were tested in bivariate and multivariate models. RESULTS: STI was detected in 22% of partnerships; discordance for demographics or relationship commitment was reported in 40% to 50%; and partner concurrency in 26%. Few partnerships (18%) reported consistent condom use in the prior month. In multivariate analyses, partnership-level STI was associated with discordance by ethnicity (odds ratio [OR], 3.4; P = 0.04), commitment (OR, 4.2; P = 0.02), number of lifetime partners (OR, 4.9; P = 0.01), and concurrency (OR, 3.8; P = 0.03). Individual-level STI was associated with the individual's concurrency and Hispanic ethnicity. CONCLUSIONS: Discordance and concurrency are associated with STI at the partnership level and may reflect bridging between high- and low-risk STI networks. Partnership factors allowed additional assessment of STI risk over individual factors, suggesting that data on partnerships may identify individuals linked to risky networks.     

The preferred response slopes and two-channel compression ratios in twenty listening conditions by hearing-impaired and normal-hearing listeners and their relationship to the acoustic input

This paper presents the results from two experiments in which normal-hearing and hearing-impaired listeners used an adaptive procedure to select their preferred frequency response slope and two-channel compression ratios in twenty listening conditions. Whereas the preferred response slope mostly depended on the difference in SNR between frequency bands, the preferred output levels in two channels depended highly on the intensity level entering each band. In both cases, subjects preferred less gain in frequency bands where noise was more intrusive and they preferred less gain for listening comfort than for speech understanding. The preferred response slope also depended on the slope of the audiogram. Relative to the prescribed NAL-RP response, the preferred gain variations improved the broadband SNR and hence listening comfort, but not the estimated speech intelligibility index. Overall, the findings confirm the approach used in many commercial products of applying wide dynamic range compression in multiple bands with additional gain reductions in bands where the noise is estimated to be dominant.     

Proper folding of the antifungal protein PAF is required for optimal activity

The Penicillium chrysogenumantifungal protein PAF is secreted into the supernatant after elimination of a preprosequence. PAF is actively internalized into the hyphae of sensitive molds and provokes growth retardation as well as changes in morphology. Thus far, no information is available on the exact mode of action of PAF, nor on the function of its prosequence in protein activity. Therefore, we sought to investigate the effects of secreted PAF as well as of intracellularly retained pro-PAF and mature PAF on the sensitive ascomycete Aspergillus nidulans, and transformed this model organism by expression vectors containing 5'-sequentially truncated paf-coding sequences under the control of the inducible P. chrysogenum-derived xylanase promoter. Indirect immunofluorescence staining revealed the localization of recombinant PAF predominantly in the hyphal tips of the transformant Xylpaf1 which expressed prepro-PAF, whereas the protein was found to be distributed intracellularly within all segments of hyphae of the transformants Xylpaf2 and Xylpaf3 which expressed pro-PAF and mature PAF, respectively. Growth retardation of Xylpaf1 and Xylpaf3 hyphae was detected by proliferation assays and by light microscopy analysis. Using transmission electron microscopy of ultrathin hyphal sections a marked alteration of the mitochondrial ultrastructure in Xylpaf1 was observed and an elevated amount of carbonylated proteins pointed to severe oxidative stress in this strain. The effects induced by secreted recombinant PAF resembled those evoked by native PAF. The results give evidence that properly folded PAF is a prerequisite for its activity.