High levels of fetal hemoglobin (HbF) reduce sickle cell anemia (SCA) morbidity and mortality. HbF levels vary considerably and there is a strong genetic component that influences HbF production. Genetic polymorphisms at three quantitative trait loci (QTL): Xmn1-HBG2, HMIP-2 and BCL11A, have been shown to influence HbF levels and disease severity in SCA. Hydroxyurea (HU) is a drug that increases HbF. We investigated the influence of single nucleotide polymorphisms (SNPs) at the Xmn1-HBG2 (rs7482144); BCL11A (rs1427407, rs4671393 and rs11886868); and HMIP-2 (rs9399137 and rs9402686) loci on baseline and HU-induced HbF levels in 111 HbSS patients. We found that both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF. Interestingly, we also found that BCL11A was associated with higher induction of HbF with HU. This effect was independent of the effect of BCL11A on baseline HbF levels. Additional studies will be needed to validate these findings and explain the ample inter-individual variations in HbF levels at baseline and HU-induced in patients with SCA.

This study aimed to evaluate social and economic predictors, as well social behavior and its influence on the quality of life of elders who use the primary health care network of Uberaba, Minas Gerais. Methods: Descriptive, exploratory, cross-sectional and quantitative study, conducted with 248 60 year old or older subjects, from November 2016 to May 2017. A structured questionnaire was applied to evaluate sociodemographic data, health conditions and life habits as well the WHOQOL-Bref and the WHOQOL-Old. The analysis were conducted through relative frequencies and t-test as well multiple linear regression were used to associate variables. The study was approved by the Committee of Ethics in Researches with Human Beings of the Federal University of the Triângulo Mineiro (CEP/UFTM). Results: Most elders were women, catholic, with 4 years or more of formal education, had partners, a sexually inactive life, and were retired. The linear regression analysis, found a positive and light or moderate association between sexual life and the physical, social, and environmental domains, and the past, present and future activities facet. The educational level variable had a positive and light association with the psychological domain, whereas the variable occupation had a negative and light association with the death and dying facet. Conclusions: The results found show an important social impact regarding the studied population, making it clear that public policies should be created and executed as to offer subsidies for actions which are specifically targeted at the QoL of elders.

Introduction: There are three recombinant enzymes available for the treatment of Gaucher disease (GD): imiglucerase, velaglucerase alfa, and taliglucerase alfa.Case report: A male GD type III patient, 14 years old, genotype p.L444P/L444, diagnosed at 2 years old. He had been treated with imiglucerase for 9 years since the diagnosis. In 2008, however, he presented a severe adverse reaction to imiglucerase, characterized by cough, laryngeal stridor, and periorbital edema. The infusions were suspended for 3 months when imiglucerase was restarted with premedication and a slower infusion rate. After 5 months, he presented a new adverse reaction with vomiting, tachypnea, cough, and periorbital edema. Intradermal testing confirmed IgE-mediated reaction but serological tests were negative. After 2 years and 10 months with no specific treatment and a significant worsening of the clinical picture, taliglucerase alfa was prescribed, with premedication and a slower infusion rate. At the first infusion, he presented moderate adverse reaction and the infusions were suspended. After 2 months, velaglucerase alfa was initiated uneventfully. He maintains day-hospital infusions without premedication and shows improvement of clinical and laboratory parameters.Conclusion: This is the first report of the use of velaglucerase alfa in patients with GD type III. The use of recombinant enzymes is safe for the majority of GD patients, but severe reactions may occur even many years after the beginning of the treatment. Premedication and slower infusion rate reduce the incidence of adverse reactions but may not solve the problem. This case report further demonstrates the different safety profile among all the recombinant enzymes available for the treatment of GD.

RESUMOObjetivos Calcular a prevalência de quedas, nos últimos 12 meses, entre idosos da comunidade; verificar a ocorrência de quedas em idosos da comunidade, segundo características sociodemográficas e de saúde e identificar clusters de quedas, entre idosos no município de Uberaba. Métodos Estudo transversal conduzido com 612 idosos residentes na zona urbana de Uberaba. Procederam-se às análises descritiva e bivariada com o teste qui-quadrado (p<0,05). Para estimar a intensidade dos eventos utilizou-se o Kernel estimation. Projeto aprovado pelo Comitê de Ética em Pesquisa, parecer Nº 573.833. Resultados Constatou-se que 24,7% dos idosos tiveram quedas nos últimos 12 meses. A maior proporção dos idosos que sofreu quedas era do sexo feminino (p=0,004); com 80 anos ou mais (p=0,001); sem escolaridade (p=0,026); morava só (p=0,049); sem companheiro (p=0,002); com autopercepção de saúde negativa (p<0,001); dependente para as ABVD (p=0,049) e AIVD (p=0,027); com menor participação nas AAVD (p=0,003); pré-frágeis/frágeis (p<0,001) e com desempenho físico baixo/ruim (p<0,001). Os maiores aglomerados de ocorrência de quedas foram na região centro-oeste do município, seguido pela região sudeste. Conclusão Conhecer o perfil e os fatores associados à ocorrência de quedas entre idosos possibilita que os profissionais de saúde desenvolvam ações direcionadas a prevenção, ao monitoramento e controle desses fatores. Palavras-chave:Idoso; acidentes por quedas; demografia (fonte: DeCS, BIREME). ABSTRACTObjective This work seeks to calculate the prevalence of falls in the last 12 months among the elderly from the community of the city of Uberaba; verify the occurrence of falls in the elderly of the community according to sociodemographic and health characteristics; and identify and group the types of falls among the older individuals in the city of Uberba. Methods Cross-sectional study carried out with 612 elderly people living in the urban area of Uberaba. Descriptive and bivariate analyzes were performed using the chisquare test (p<0.05). The kernel density estimation was used to estimate the intensity of the events. This project was approved by the Research Ethics Committee through Protocol No. 573.833. Results It was found that 24.7% of the elderly had falls in the last 12 months. The highest proportion of the elderly who suffered falls was female (p=0.004); aged 80 years or more (p=0.001); illiterate (p=0.026); who lived alone (p=0.049); without partner (p=0.002); with negative self-perception of health (p<0.001); dependent for BADL (p=0.049) and IALD (p=0.027); with a lower participation in AADL (p=0.003); pre-fragile/fragile (p<0.001); and with low/poor physical performance (p<0.001). The clusters with the most frequently reported falls were in the center-west region of the city, followed by the southeast region. Conclusion To know the profile and the factors associated with the occurrence of falls among the elderly allows health professionals to develop actions directed to prevent, monitor and control these factors.

No abstract