COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND: Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, clinical features are less defined, few mutations have been reported, and other genes and non-genetic factors may be involved. METHODS: We analyzed 36 ATS patients for COL4A3 and COL4A4 mutations by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and direct sequencing. Sporadic patients who had tested negative for COL4A5 mutations were included with typical cases of autosomal recessive ATS to secure a better definition of the phenotype spectrum. RESULTS: We identified seven previously undescribed COL4A3 mutations: in two genetic compounds and three heterozygotes, and one in COL4A4. In agreement with the literature, some of the mutations of compound heterozygotes were associated with microhematuria in healthy heterozygous relatives. The mutations of heterozygous patients are likely dominant, since no change was identified in the second allele even by sequencing, and they are predicted to result in shortened or abnormal chains with a possible dominant-negative effect. In addition, both genes showed rare variants of unclear pathogenicity, and common polymorphisms that are shared in part with other populations. CONCLUSIONS: This study extends the mutation spectrum of COL4A3 and COL4A4 genes, and suggests a possible relationship between production of abnormal COL IV chains and dominant expression of a continuous spectrum of phenotypes, from ATS to BFH

Impact of water absorption on the creep performance of epoxy/microcrystalline cellulose composites

Recently, considerable effort has been made to study cellulose/epoxy composites. However, there is a gap when it comes to understanding the post-conditioning anomalous effect of moisture uptake on their mechanical and dynamic-mechanical properties, and on their creep behavior. In this work, up to 10.0 wt% microcrystalline cellulose (MCC) was incorporated into epoxy resin by simple mixing and sonication. Epoxy/MCC composites were fabricated by casting in rubber silicone molds, and rectangular and dog-bone test specimens were produced. The moisture uptake, dynamic mechanical, chemical, tensile, and creep behavior were evaluated. The incorporation of MCC increased the water diffusion coefficient. The changes in storage modulus and glass transition temperature, combined with Fourier-transform infrared spectroscopy analysis, evidenced that water sorption in epoxies causes both plasticization and additional resin crosslinking, although the latter is prevented by the addition of MCC. The creep strain of the composites increased by 60% after conditioning, indicating that plasticization induced by water sorption plays an important role in the long-term properties of the composites.Validerad;2024;Nivå 2;2024-04-09 (joosat);Funder: The Brazilian Agency Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, Brazil) Finance Code 001; STINT/CAPES (no. 88881.304743/2018-01); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, Brazil) (grants no. 408193/2021-2 and 305814/2021-4);Full text license: CC BY</p

Clinical experience in the treatment of infants with chronic peritoneal dialysis

Chronic peritoneal dialysis (CPD) is the first treatment modality for most infants with end-stage renal failure; this group of patients shows peculiar clinical and technical problems. We present the data from a National Registry on 22 children starting CPD under one year of age, representing 11.6% of the total population of the Registry (189 patients). Mean weight at start of CPD was 6.1 +/- 1.8 kg and duration of dialysis was 22.1 +/- 15.5 months. During the follow-up period, 9 patients were transplanted, 1 was shifted to hemodialysis, and 4 died. Patient survival was 89.1% and 82.2% at 1 and 2 years (97.9% and 96.5% in the group of 167 older children); technique survival results were 89.1% at 1 year and 77.1% at 2 years (vs 92.5% and 85.7%, respectively). The incidence of peritonitis was 1 episode every 15.6 CPD-months (1:16.1 in the older children). Catheter-related complications occurred more frequently in infants (1:11.8 vs 1:17 episode:CPD-months), even if this difference was not statistically significant. Statural growth was on average -0.29 +/- 0.66 SD/year with a significant improvement between the first (-0.50 +/- 0.79) and the second (+0.23 +/- 0.77) year of CPD. Our data confirm that infants represent a higher risk group and that they can be treated satisfactorily with CPD while awaiting renal transplantation

Inteligência artificial, tecnologias informacionais e seus possíveis impactos sobre as Ciências Sociais<A NAME="BM_n"></A> Artificial intelligence, informational technologies and their potential impacts on Social Sciences

Este artigo analisa algumas possibilidades de transformação das Ciências Sociais e, de maneira mais específica, na Sociologia, levantadas a partir do desenvolvimento e uso, nessas ciências, de tecnologias informacionais. Nas sociedades contemporâneas o aprofundamento do uso destas novas tecnologias pode trazer importantes conseqüências para as Ciências Sociais afetando, potencialmente, o ensino, a pesquisa e a construção de teoria. No Brasil podemos ver que um número crescente de informações é disponível em formato eletrônico, e estas podem ser analisadas para aumentar nossos conhecimentos sobre a sociedade. De fundamental importância é que o crescente recurso a tecnologias informacionais seja acompanhado por avanços na capacidade de teorização.<br>This article examines some possibilities for change in Social Sciences and more specifically, on Sociology derived from development and use of informational technologies within that field. In contemporary societies, the growing use of those technologies may bring about important consequences for social sciences, potentially affecting teaching, research and theory building. In Brazil, there is more and more information available in electronic format, which could be analyzed to enlarge our knowledge about society. It is extremely important that the growing resorting to informational technologies is followed by advances in theorization abilities

O perfil da violência contra crianças e adolescentes, segundo registros de Conselhos Tutelares: vítimas, agressores e manifestações de violência The profile of violence against children and adolescents according to Child Protection Council records: victims, aggressors and patterns of violence

OBJETIVO: estimar a prevalência das formas de violência contra crianças e adolescentes, registradas nos Conselhos Tutelares, e a associação dessas violências por faixas etárias das vítimas e vínculo com agressores, em 2003-2004. MÉTODO: foram coletados dados dos prontuários e calculadas as prevalências e associação entre variáveis, através da razão de prevalência (RP), com nível crítico de 5%. RESULTADOS: totalizaram 1.293 registros de violência, sendo 1.011 (78,1%) originados no domicílio. As violências mais freqüentes foram a negligência (727), por omissão de cuidados básicos (304) e abandono (259); a violência física (455), por espancamento (392), nas faixas de 2 a 13 anos; a violência psicológica (374), por amedrontamento (219); a violência sexual (68), por abuso (58), principalmente entre adolescentes. A principal forma de denúncia foi anônima, 398 (30,8%); os agressores para negligência foram os pais; para violência física, a madrasta e "outros agressores"; para violência sexual, o padrasto, "outros familiares/ agressores"; a violência psicológica foi prevalente entre todas categorias de agressores. CONCLUSÕES: Os resultados apontam para a necessidade de divulgação do "Disque Denúncia"; a formação de conselheiros, quanto ao registro adequado, assim como a implementação de políticas de prevenção da violência contra crianças e adolescentes.<br>OBJECTIVE: To estimate the prevalence of violence against children and adolescents through the records of Child Protection Councils, associating this violence with the age of the victims and their links with the aggressor. METHOD: Data were collected from the records and the prevalence rates were calculated through the Prevalence Ratio (PR), together with the associations among variables, with a critical level of 5%. RESULTS: Out of 1,293 records of violence, 1,011 (78.1%), originated in the home. The most frequent types of violence were: neglect (727), failure to provide basic care (304) and abandonment (259); physical violence (455), beatings (392) between 2 and 13 years old; psychological violence (374) through threats (219); sexual violence (68) through abuse (58), mainly among adolescents. Denunciations were mainly (398) anonymous (30.8%); the aggressors through neglect were the parents; through physical violence, the stepmother and "other aggressors"; through sexual violence, the stepfather and "other relatives / aggressors"; psychological violence was prevalent among all aggressor categories. CONCLUSIONS: The findings indicate the need to extend the Anti-Violence Hot-line facilities, training Council Members in terms of keeping proper records, and implementing policies designed to prevent violence against children and adolescents