Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

OBJETIVO: O presente estudo teve como objetivo avaliar os genes PROP1 e HESX1 em um grupo de pacientes com displasia septo-óptica (DSO) e deficiência hormonal hipofisária (combinada - DHHC; ou deficiência isolada de GH - DGH). Onze pacientes com apresentação clínica e bioquímica consistente com DHHC, DGH ou DSO foram avaliados. SUBJECTS and METHODS: em todos os pacientes, o gene HESX1 foi analisado pelo sequenciamento direto e, nos casos de DHHC, o gene PROP1 foi também sequenciado. RESULTADOS: Um polimorfismo no gene HESX1 (1772 A > G; N125S) foi identificado em um paciente com DSO. Foram encontrados três pacientes portadores da variação alélica 27 T > C; A9A e 59 A > G; N20S no éxon 1 do gene PROP1. Mutações no gene PROP1 e HESX1 não foram identificadas nesses pacientes com DGH, DHHC e DSO esporádicos. CONCLUSÃO: Alterações genéticas em um ou diversos outros genes ou mecanismos não genéticos devem estar implicados nesse processo patogênico.

Peritonitis in recent years: clinical findings and predictors of treatment response of 170 episodes at a single Brazilian center

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Redução da mortalidade após implementação de condutas consensuais em pacientes com infarto agudo do miocárdio

OBJETIVO: Comparar a mortalidade em 30 dias com a utilização de determinados grupos de medicamentos por pacientes, entre 1992-1997, quando não se dispunham de condutas consensuais para tratamento do infarto agudo do miocárdio, e de 2000-2002, após a padronização dessas condutas em nosso serviço. MÉTODOS: Avaliados, retrospectivamente, no 1º e 2º períodos, 172 e 143 pacientes respectivamente, admitidos com diagnóstico de infarto agudo do miocárdio: foram realizados os testes estatísticos: c² para comparar proporções, teste t de Student e o de Mann-Whitney para comparação de médias ou medianas. RESULTADOS: A análise não mostrou diferença em relação aos homens, brancos e a idade média de 61 anos, nos dois períodos. Com relação aos fatores de risco clássicos, foi observada diferença apenas na incidência de dislipidemia (17 e 29%) e, quanto à estratégia terapêutica, aumento significativo do uso de: trombolíticos (39 e 61,5%), ácido acetilsalicílico (70,9 e 96,5%), betabloqueadores (34,8 e 67,8%), inibidor da enzima conversora da angiotensina (45,9 e 74,8%), nitratos (61 e 85,3%) e a redução significativa de bloqueadores de cálcio (16,8 e 5,3%), antiarrítmicos (29,1 e 9,7%) e diuréticos (50,6 e 26,6%). O uso de inotrópicos não diferiu entre os períodos (29,6 e 32,1%). A mortalidade em 30 dias apresentou redução estatisticamente significante de 22,7 para 10,5%. CONCLUSÃO: A implementação das condutas consensuais para o tratamento do infarto agudo do miocárdio foi acompanhada por significante redução da taxa de mortalidade em 30 dias.

Early initiation of dialysis: mortality and renal function recovery in acute kidney injury patients

INTRODUÇÃO: A decisão de quando iniciar a diálise em pacientes com lesão renal aguda (LRA) que apresentam síndrome urêmica está bem estabelecida, entretanto, com ureia < 200 mg/dl o melhor momento para iniciar a diálise torna-se incerto. OBJETIVO: Este estudo teve como objetivo avaliar a mortalidade e a recuperação da função renal em pacientes com LRA, cujo início da diálise ocorreu em diferentes níveis de ureia. MÉTODOS: Estudo retrospectivo desenvolvido em hospital escola, no estado de São Paulo, Brasil, envolvendo 86 pacientes submetidos à diálise. RESULTADOS: A diálise foi iniciada com uréia > 150 mg/dl em 23 pacientes (grupo I) e uréia > 150 mg/dl em 63 pacientes (grupo II). Hipervolemia e mortalidade foram mais frequentes no grupo I que no grupo II (65,2 x 14,2% - p < 0,05; 39,1 x 68,9% - p < 0,05, respectivamente). Entre os sobreviventes, a recuperação renal foi maior no grupo I (71,4 e 36,8%, respectivamente, p < 0,05). A análise multivariada mostrou risco independente de mortalidade relacionado à sepse, idade > 60 anos, diálise peritoneal e uréia > 150 mg/dl no início da diálise. CONCLUSÃO: Menor mortalidade e maior recuperação renal estão associadas com o diálise iniciada precocemente, conforme baixos níveis de ureia, em pacientes com LRA.

Variability of the conserved V3 loop tip motif in HIV-1 subtype B isolates collected from Brazilian and French patients

The diversity of the V3 loop tip motif sequences of HIV-1 subtype B was analyzed in patients from Botucatu (Brazil) and Montpellier (France). Overall, 37 tetrameric tip motifs were identified, 28 and 17 of them being recognized in Brazilian and French patients, respectively. The GPGR (P) motif was predominant in French but not in Brazilian patients (53.5% vs 31.0%), whereas the GWGR (W) motif was frequent in Brazilian patients (23.0%) and absent in French patients. Three tip motif groups were considered: P, W, and non-P non-W groups. The distribution of HIV-1 isolates into the three groups was significantly different between isolates from Botucatu and from Montpellier (P < 0.001). A higher proportion of CXCR4-using HIV-1 (X4 variants) was observed in the non-P non-W group as compared with the P group (37.5% vs 19.1%), and no X4 variant was identified in the W group (P < 0.001). The higher proportion of X4 variants in the non-P non-W group was essentially observed among the patients from Montpellier, who have been infected with HIV-1 for a longer period of time than those from Botucatu. Among patients from Montpellier, CD4+ cell counts were lower in patients belonging to the non-P non-W group than in those belonging to the P group (24 cells/µL vs 197 cells/µL; P = 0.005). Taken together, the results suggest that variability of the V3 loop tip motif may be related to HIV-1 coreceptor usage and to disease progression. However, as analyzed by a bioinformatic method, the substitution of the V3 loop tip motif of the subtype B consensus sequence with the different tip motifs identified in the present study was not sufficient to induce a change in HIV-1 coreceptor usage.

Avaliação de intervenção educativa sobre aleitamento materno dirigida a agentes comunitários de saúde

OBJETIVOS: avaliar ação educativa visando à capacitação de agentes comunitários de saúde em promoção e apoio ao aleitamento materno. MÉTODOS: estudo do processo e adequação de intervenção, com comparação de conhecimentos e práticas de 54 agentes, antes e dois meses após a ação. A intervenção, quatro oficinas teórico-práticas com oito horas cada, fundamentou-se em princípios da Educação Crítico-Reflexiva e em dois cursos de capacitação de equipes de maternidade. Os resultados foram expressos pelas diferenças dos escores médios de conhecimentos, práticas e total, adotando-se p<0,05 como nível crítico. RESULTADOS: houve aumento do escore médio de conhecimentos (21,0 para 26,6; p<0,001) e de escores de conhecimentos classificados como bons (37,0% para 88,8%, p<0,001). Não houve mudanças no escore de participação dos agentes em específicas ações de saúde, como grupos. O efeito da intervenção mais apontado pelos agentes foi sentir-se mais aceito e em melhores condições de participar da equipe multiprofissional em situações envolvendo cuidados com crianças. Mais da metade relatou melhora na qualidade e quantidade das orientações prestadas nas visitas domiciliarias. CONCLUSÕES: a intervenção tem efeitos positivos sobre conhecimentos e a prática dos agentes junto às famílias, mas não promove aumento da sua participação em específicas ações de saúde.

Effect of fractional urea clearance on survival of hemodialysis patients in relation to gender

Many studies have demonstrated the relationship between dialysis dose and survival. Global mortality is similar among men and women; however, the influence of dialysis dose in the survival could be more intensive between women. Therefore, we conduct an observational study to evaluate the gender-related impact of single pool Kt/V (spKt/V) on the survival of patients submitted to hemodialysis in a university hospital. We found that survival was lower in groups with spKt/V smaller than 1.2 than in those with Kt/V between 1.2 and 1.4. Among female patients, spKt/V smaller than 1.2 had a more adverse effect in survival than among men with a comparable Kt/V. Otherwise, among women, the dialysis dose had an impact in survival even with Kt/V greater than 1.4. Thus, fractional urea clearance more heavily influenced the survival of females than males in hemodialysis patients.

Can Delivery Dialysis Dose Affect Survival of Acute Kidney Injury Patients?

Intensity of dialysis dose in acute kidney injury (AKI) might benefit critically ill patients. The aim of this study was to evaluate the effect of intermittent hemodialysis (IHD) dose on mortality in patients with AKI. Methods: Prospective observational study was performed on AKI patients treated with IHD. The delivered dialysis dose per session was calculated based on single-pool Kt/V urea. Patients were allocated in two groups according to the weekly delivered median Kt/V: higher intensity dialysis dose (HID: Kt/V higher than median) and lower intensity dialysis dose (LID: Kt/V lower than median). Thereafter, AKI patients were divided according to the presence or absence of sepsis and urine output. Clinical and lab characteristics and survival of AKI patients were compared. Results: A total of 121 AKI patients were evaluated. Forty-two patients did not present with sepsis and 45 did not present with oliguria. Mortality rate after 30 days was lower in the HID group without sepsis (14.3% x 47.6%; p = 0.045) and without oliguria (31.8% x 69.5%; p = 0.025). Survival curves also showed that the HID group had higher survival rate when compared with the LID group in non-septic and non-oliguric patients (p = 0.007 and p = 0.003, respectively). Conclusion: Higher dialysis doses can be associated with better survival of less seriously ill AKI patients.

When is dialysis indicated in acute kidney injury?

The indications for dialysis in patients with acute kidney injury (AKI), as well as the dose and timing of initiation, remain uncertain. Recent data have suggested that early initiation of renal replacement therapy (RRT) may be associated with decreased mortality but not with the recovery of kidney function. A blood urea nitrogen (BUN) level of 75 mg/dL is a useful indicator for dialysis in asymptomatic patients, but one that is based on studies with limitations. Different parameters, including absolute and relative indicators, are needed. Currently, nephrologists should consider the trajectory of disease, and the clinical condition and prognosis of the patient are more important than numerical values in the decision to initiate dialysis.

Could a high-fat diet rich in unsaturated fatty acids impair the cardiovascular system?

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Diet-induced obesity in rats leads to a decrease in sperm motility

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Hiperinsuflação manual combinada com compressão torácica expiratória para redução do período de internação em UTI em pacientes críticos sob ventilação mecânica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Variability and resistance mutations in the hepatitis C virus NS3 protease in patients not treated with protease inhibitors

The goal of treatment of chronic hepatitis C is to achieve a sustained virological response, which is defined as exhibiting undetectable hepatitis C virus (HCV) RNA levels in serum following therapy for at least six months. However, the current treatment is only effective in 50% of patients infected with HCV genotype 1, the most prevalent genotype in Brazil. Inhibitors of the serine protease non-structural protein 3 (NS3) have therefore been developed to improve the responses of HCV-infected patients. However, the emergence of drug-resistant variants has been the major obstacle to therapeutic success. The goal of this study was to evaluate the presence of resistance mutations and genetic polymorphisms in the NS3 genomic region of HCV from 37 patients infected with HCV genotype 1 had not been treated with protease inhibitors. Plasma viral RNA was used to amplify and sequence the HCV NS3 gene. The results indicate that the catalytic triad is conserved. A large number of substitutions were observed in codons 153, 40 and 91; the resistant variants T54A, T54S, V55A, R155K and A156T were also detected. This study shows that resistance mutations and genetic polymorphisms are present in the NS3 region of HCV in patients who have not been treated with protease inhibitors, data that are important in determining the efficiency of this new class of drugs in Brazil.

Recidivas e recorrências de carcinomas basocelulares da face

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Paracoccidioidomycosis in a Dog: Case Report of Generalized Lymphadenomegaly

Paracoccidioidomycosis (PCM) is a severe systemic mycosis, endemic in Latin America and highly prevalent in Brazil, where it ranks eighth as a mortality cause among infectious and parasitic diseases in humans. The disease in animals has been little explored. It is observed that armadillos can harbor the fungus at high frequencies, although the active disease has not been well documented in this wild mammal. Dogs are susceptible to experimental infection, and the naturally acquired PCM-disease was reported only recently in a dog from Brazil. The present work reports the second case of naturally acquired PCM in a 6-year-old female dog that presented emaciation, lymphadenomegaly, and hepatosplenomegaly. Biochemical and pulmonary radiographic evaluation did not reveal any abnormalities. PCM was diagnosed by clinical findings, culturing, immunohistochemistry, and histopathology of popliteal lymph node. The fungus was recovered from popliteal lymph node, and the molecular analysis showed respective sequencing similarities of 99 and 100% for 803 nucleotides of the Gp43 gene and 592 nucleotides from the ITS-5.8S region of Paracoccidioides brasiliensis. Immunohistochemistry revealed severe lymphadenitis and presented numerous yeasts, which reacted against the gp43 antibody. Histopathology revealed a severe granulomatous lymphadenitis associated with numerous single or multiple budding yeasts. After diagnosis, the dog was successfully treated with itraconazol for 2 years. Veterinarians should be aware of the importance of considering PCM for differential diagnosis, especially in dogs from PCM-endemic areas, whose monophagocytic system involvement is evident.