Resumo Objetivos: apresentar um caso de Erro Inato da Imunidade (EII) como diagnóstico em potencial de pacientes pediátricos com infecções de repetição. Descrição: paciente masculino, 13 anos, desde os oito meses de idade apresentou quadros repetidos de diarreias, sinusites, otites, abscessos e infecções do trato urinário; destacando-se a otite, sinusite e diarreia pela maior recorrência. Aos dez anos, quando apresentou mastoidite evoluindo para meningite, foi internado em um hospital terciário, onde foi realizada avaliação imunológica, a qual levou ao diagnóstico de Deficiência Predominantemente de Anticorpos (DPAs), tendo como suspeita a agamaglobulinemia ligada ao cromossomo X (ALX). Foi iniciado tratamento com administração de gamaglobulina endovenosa 400 mg/kg a cada quatro semanas, ocorrendo melhora significativa do quadro. Discussão: normalmente, o diagnóstico da ALX tende a ser feito nos primeiros três anos de vida. Neste relato, entretanto, embora as primeiras manifestações tenham iniciado aos oito meses de idade, ocorreu um atraso de dez anos até o início do tratamento. De fato, o diagnóstico de crianças e adultos com EII pode ser retardado se os profissionais de saúde não conseguirem encontrar a causa das infecções recorrentes. Destaca-se, portanto, a relevância de se considerar tais patologias na vigência de sinais de riscos, pois o diagnóstico precoce é fundamental para tratar e prevenir morbidades. Objetivos (EII repetição Descrição masculino 1 diarreias sinusites otites urinário destacandose destacando otite recorrência meningite terciário imunológica DPAs, DPAs , (DPAs) ALX. . (ALX) 40 mgkg mg kg semanas quadro Discussão normalmente vida relato entretanto fato recorrentes Destacase, Destacase Destaca se, Destaca-se portanto riscos morbidades (DPAs (ALX 4

Abstract Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis, abscesses and urinary tract infections. At the age of ten, he presented mastoiditis progressing to meningitis, he was admitted to a tertiary hospital, where an immunological evaluation was performed, which led to the diagnosis of Predominantly Antibody Deficiency (PAD), with suspected X-linked Agammaglobulinemia (XLA). Treatment was initiated with administration of intravenous gamma globulin 400 mg/kg every four weeks, with a significant improvement of the condition. Discussion: usually, the diagnosis of XLA tends to be made in the first three years of life. However, in this report, although the first manifestations started at eight months of age, there was a delay of ten years before starting the treatment. In fact, the diagnosis of children and adults with IEI can be delayed if healthcare professionals are unable to find the true cause of recurrent infections. Therefore, the relevance of considering such pathologies in the presence of risk signs is highlighted, as early diagnosis being essential in treating and preventing morbidities. Objectives (IEI infections Description patient 1 diarrhea sinusitis otitis meningitis hospital performed PAD, PAD , (PAD) Xlinked X linked XLA. . (XLA) 40 mgkg mg kg weeks condition Discussion usually life However report treatment fact Therefore highlighted morbidities (PAD (XLA 4

This study presents the toxicological effects of iron nanoparticles (NP Fe2O3) using in vitro and in vivo tests. Initially nanoparticles were characterized physic-chemically followed by evaluation of cell viability using different cell lines. Allium cepa test and comet assay (cell lines and Danio rerio) were used for evaluation of genotoxicity. Oxidative stress analyses were performed using D. rerio exposed to NP-Fe2O3, and the enzymatic activity of the enzymes catalase (CAT), glutathione peroxidase (GPx) and glutathione S-transferase (GST) were evaluated. The results showed that initially nanoparticles had 65.55 nm, 0.24 of polydispersity of and 11.4 mV of zeta potential. Regarding cell viability, it was observed that this did not reach the IC50 up to the concentration 1 x 1010 NP mL-1. The in vitro comet assay showed that in concentrations 1.96 x108 and 109 NPs mL-1 these presented toxicity, for Allium cepa evaluation in concentrations 19.6 and 39.0 x109 NPs mL-1 presented significant damages when compared to the control. Oxidative stress showed that the liver was the most affected organ when compared to the control. Although studies show that iron nanoparticles do not lead to changes, further studies are needed to make sure they do not lead to environmental changes.

The study of characteristics of nanoscale structures and applications now has great interest of researchers from different areas. In this regard, lipid carriers can improve the bioavailability of drugs and the reduction of possible toxicological effects. Thus, the development of nanostructured systems for the agricultural sector, aimed at combating parasites may reduce extensive damage caused to livestock producers and animal health. This study aimed to prepare and characterize lipid carrier systems, such as Solid Lipid Nanoparticles (SLN) and Nanostructured Lipid Carriers (NLC), as well as evaluate the potential of cyto and genotoxicity of these systems in order to improve and produce alternatives to the use targeting these compounds in veterinary applications. Lipid nanoparticles had become spherical with an average size of 250 nm and remained stable over 120 days. The encapsulation efficiency was greater than 99% for both drugs and release tests showed a strong interaction between drugs and nanoparticles. Cyto- and genotoxicity tests show that nanoparticles made possible changes in cellular viability of the tested cells. Thus, the results showed that the nanoparticles had good colloidal characteristics without changes in its characteristics, enabling the development of carrier systems for these drugs , aiming veterinary applications.

Resumo Objetivo: O objetivo deste estudo foi realizar uma análise rápida e abrangente do reservatório usando variáveis físicas, químicas e biológicas, compreendendo água e sedimento e verificar se esta abordagem baseada em uma única campanha de coleta pode fornecer informações suficientemente robustas para o monitoramento. Métodos Uma campanha de amostragem foi realizada ao longo do corpo central do reservatório de Itupararanga compreendendo cinco pontos de amostragem. As seguintes variáveis biológicas e físico-químicas foram determinadas em cada ponto a partir de amostras de água: temperatura, pH, concentração de oxigênio dissolvido, condutividade elétrica, material em suspensão, nitrogênio e fósforo totais e coliformes fecais. Um ensaio de genotoxicidade com Allium cepa também foi realizado com água proveniente de cada um dos cinco pontos de amostragem. Como complemento, as comunidades fitoplanctônica e de macroinvertebrados bentônicos também foram analisadas, mas apenas nos dois pontos de amostragem mais extremos (P1 e P5). Resultados Os resultados indicam um cenário de eutrofização e toxicidade. Altas concentrações de coliformes fecais foram registradas e há uma prevalência preocupante de cianobactérias – potenciais produtoras de toxinas - no fitoplâncton. A análise dos macroinvertebrados bentônicos indica baixa qualidade da água e dos sedimentos. Os testes de genotoxicidade sugerem a presença de substâncias tóxicas ao longo do corpo d'água. Conclusões Conclui-se que as águas do reservatório de Itupararanga apresentam baixa qualidade. Tal situação pôde ser relacionada aos usos do solo no entorno do reservatório. A abordagem abrangente ora realizada onde fontes distintas de variáveis para monitoramento foram consideradas, apesar do protocolo expedito (uma campanha), foi suficiente para responder aos diferentes tipos de impactos antrópicos recebidos pelo reservatório sendo uma opção viável para um diagnóstico rápido.

Abstract Aim: The aim of this study was to conduct a rapid and comprehensive analysis of the reservoir using physical, chemical and biological variables comprising water and sediment as also to verify if a one-sampling campaign can produce information that is robust enough for monitoring purposes. Methods One-sampling campaign was performed along the central body of Itupararanga reservoir comprising five sampling points. The following physico-chemical and biological variables were measured in each of them from water samples: temperature, pH, concentration of dissolved oxygen, electric conductivity, suspended matter, total nitrogen and phosphorus and fecal coliforms. A genotoxicity assay with Allium cepa was also performed with water from each one of the five sampling points. As a complement, the phytoplankton and benthic macroinvertebrates communities were also analyzed in the two most distant sampling points (P1 and P5). Results Results indicate a scenario with eutrophication and toxicity. High concentrations of fecal coliforms were recorded and there is a worrying prevalence of cyanobacteria - potential toxin producers - in phytoplankton community. Benthic macroinvertebrates analysis suggests poor quality of the water and sediments. Genotoxicity tests suggest the presence of toxic substances along the waterbody. Conclusions It is concluded that Itupararanga reservoir has water with poor quality that could be related to the land uses around the reservoir. The comprehensive approach performed here - where distinct sources of monitoring variables was considered - despite the rapid protocol (one campaign), was enough to respond to the distinct anthropic impacts received by the reservoir. Considering it, this approach is recommended as a rapid diagnostic tool.

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene.