Knowledge and practices regarding child development among primary healthcare professionals

OBJECTIVE: To evaluate the knowledge and practices regarding child development among physicians working in primary healthcare units. METHOD: Cross-sectional descriptive study carried out at primary healthcare units in Embu, São Paulo, Brazil. Study procedures: 1) Evaluation of knowledge: test consisting of 20 multiple-choice questions on child development applied to all 31 physicians who were providing pediatric care at the primary healthcare units; 2) Evaluation of practices: semi-structured interview applied to a sample of 154 mothers/caregivers of children aged up to 36 months during follow-up visits at primary healthcare units in the municipality. For the comparisons of categorical variables (evaluation/advices about development in visits of children at different ages), the chi-square test was employed. RESULTS: The mean number of correct responses among physicians was 14.8. The error rate for seven questions was greater than 30% (sensory development, language acquisition, physiology of the nervous system, clinical and laboratory diagnosis of congenital infections and innate errors of metabolism) and the rate of correct responses was greater than 85% for four questions (motor and personal-social development markers, risk factors and genetic syndromes). Regarding practices, in 69 (45%) visits, the doctor asked the mother/caregiver's opinion about the child's development; in 80 (52%), the mother/caregiver said that the doctor assessed the development; and in 64 (42%), the mother/caregiver said that the doctor advised them on practices for child's stimulation. CONCLUSIONS: Faulty knowledge and practices regarding child development were identified among primary care professionals, indicating the need for continued education.OBJETIVO: Avaliar o conhecimento e as práticas sobre desenvolvimento infantil de médicos que atuam em Unidades Básicas de Saúde (UBS). MÉTODO: Estudo transversal, descritivo, realizado nas UBS de Embu (SP). Procedimentos do estudo: 1) avaliação do conhecimento por teste contendo 20 questões de múltipla escolha sobre desenvolvimento da criança aplicado a 31 médicos (universo) que prestam assistência pediátrica em UBS; 2) avaliação das práticas - entrevista semiestruturada aplicada para uma amostra de 154 mães/cuidadores que acompanhavam crianças com idade menor ou igual a 36 meses em consulta médica agendada em UBS do município. Para comparação de variáveis categóricas (avaliação/orientações sobre desenvolvimento em consultas de crianças de diferentes faixas etárias), utizou-se o qui-quadrado. RESULTADOS: A média de acertos dos médicos foi de 14,8 questões; sete questões apresentaram índices de erros superiores a 30% (desenvolvimento sensorial, aquisição de linguagem, fisiologia do sistema nervoso, diagnóstico clínico e laboratorial de infecções congênitas, erros inatos do metabolismo) e quatro questões apresentaram acertos acima de 85% (marcos do desenvolvimento motor, pessoal-social, fatores de risco e síndrome genética). Quanto às práticas, em 69 (45%) consultas o médico perguntou a opinião da mãe/cuidador sobre o desenvolvimento da criança, em 80 (52%) a mãe/cuidador referiu que o médico fez alguma pergunta e/ou avaliou o desenvolvimento e em 64 (42%) orientou sobre como estimular a criança. CONCLUSÕES: Identificaram-se falhas de conhecimento e nas práticas dos profissionais referentes ao desenvolvimento da criança, o que indica a necessidade de implementar educação permanente.UNIFESP Curso de MedicinaUNIFESP Projeto DesenvolverSecretaria Municipal de Saúde do EmbuUNIFESP Departamento de Pediatria Disciplina de Pediatria Geral e ComunitáriaUNIFESP, Curso de MedicinaUNIFESP, Projeto DesenvolverUNIFESP, Depto. de Pediatria Disciplina de Pediatria Geral e ComunitáriaSciEL

The R337H mutation in TP53 and breast cancer in Brazil

<p>Abstract</p> <p>Background</p> <p>Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the <it>R337H </it>mutation in <it>TP53</it>. The relatively high population frequency of this mutation in southern Brazil, along with the clustering of early onset breast cancer in Li-Frameni families, suggests this mutation may also be a low-penetrance breast cancer susceptibility polymorphism.</p> <p>Methods</p> <p>We undertook this study to evaluate the frequency of the <it>R337H </it>mutation in breast cancer patients from Rio de Janeiro, Brazil. <it>R337H </it>mutation status was determined in 390 unselected breast cases and 324 controls identified from clinics in Rio de Janeiro, Brazil using a PCR-based assay.</p> <p>Results</p> <p>Two of the breast cancer cases (0.5%) and none of the controls carried the mutation. Both cases had an early age at diagnosis (< 40 years old) and a family history of breast and other cancers.</p> <p>Conclusions</p> <p>These data suggest genetic screening of young onset breast cancer patients should include testing for the <it>R337H </it>mutation.</p

Molecular Etiology of Atherogenesis – In Vitro Induction of Lipidosis in Macrophages with a New LDL Model

BACKGROUND: Atherosclerosis starts by lipid accumulation in the arterial intima and progresses into a chronic vascular inflammatory disease. A major atherogenic process is the formation of lipid-loaded macrophages in which a breakdown of the endolysomal pathway results in irreversible accumulation of cargo in the late endocytic compartments with a phenotype similar to several forms of lipidosis. Macrophages exposed to oxidized LDL exihibit this phenomenon in vitro and manifest an impaired degradation of internalized lipids and enhanced inflammatory stimulation. Identification of the specific chemical component(s) causing this phenotype has been elusive because of the chemical complexity of oxidized LDL. METHODOLOGY/PRINCIPAL FINDINGS: Lipid "core aldehydes" are formed in oxidized LDL and exist in atherosclerotic plaques. These aldehydes are slowly oxidized in situ and (much faster) by intracellular aldehyde oxidizing systems to cholesteryl hemiesters. We show that a single cholesteryl hemiester incorporated into native, non-oxidized LDL induces a lipidosis phenotype with subsequent cell death in macrophages. Internalization of the cholesteryl hemiester via the native LDL vehicle induced lipid accumulation in a time- and concentration-dependent manner in "frozen" endolysosomes. Quantitative shotgun lipidomics analysis showed that internalized lipid in cholesteryl hemiester-intoxicated cells remained largely unprocessed in those lipid-rich organelles. CONCLUSIONS/SIGNIFICANCE: The principle elucidated with the present cholesteryl hemiester-containing native-LDL model, extended to other molecular components of oxidized LDL, will help in defining the molecular etiology and etiological hierarchy of atherogenic agents

FimL Regulates cAMP Synthesis in Pseudomonas aeruginosa

Pseudomonas aeruginosa, a ubiquitous bacteria found in diverse ecological niches, is an important cause of acute infections in immunocompromised individuals and chronic infections in patients with Cystic Fibrosis. One signaling molecule required for the coordinate regulation of virulence factors associated with acute infections is 3′, 5′-cyclic adenosine monophosphate, (cAMP), which binds to and activates a catabolite repressor homolog, Vfr. Vfr controls the transcription of many virulence factors, including those associated with Type IV pili (TFP), the Type III secretion system (T3SS), the Type II secretion system, flagellar-mediated motility, and quorum sensing systems. We previously identified FimL, a protein with histidine phosphotransfer-like domains, as a regulator of Vfr-dependent processes, including TFP-dependent motility and T3SS function. In this study, we carried out genetic and physiologic studies to further define the mechanism of action of FimL. Through a genetic screen designed to identify suppressors of FimL, we found a putative cAMP-specific phosphodiesterase (CpdA), suggesting that FimL regulates cAMP levels. Inactivation of CpdA increases cAMP levels and restores TFP-dependent motility and T3SS function to fimL mutants, consistent with in vivo phosphodiesterase activity. By constructing combinations of double and triple mutants in the two adenylate cyclase genes (cyaA and cyaB), fimL, and cpdA, we show that ΔfimL mutants resemble ΔcyaB mutants in TM defects, decreased T3SS transcription, and decreased cAMP levels. Similar to some of the virulence factors that they regulate, we demonstrate that CyaB and FimL are polarly localized. These results reveal new complexities in the regulation of diverse virulence pathways associated with acute P. aeruginosa infections