Premature aging in adults with Down syndrome: genetic, cognitive and functional aspects / Envelhecimento precoce em adultos com síndrome de Down: Aspectos genéticos, cognitivos e funcionais

ABSTRACT OBJECTIVE: To describe genetic aspects and characteristics associated with premature aging in adults with Down syndrome. METHOD: A cross-sectional study was carried out of 28 individuals with Down syndrome, aged between 20 and 54 years old (13 women and 15 men), in a university community genetics program, who were referred by philanthropic institutions which offers support to people with disabilities and their families. The genetic and functional data were recorded in anamnesis forms. RESULTS: Karyotype analysis revealed free trisomy 21, with only one hereditary case of translocation between chromosomes 15/21. In the sample group, functional difficulties were observed in locomotion, sedentary lifestyles, behavior disorders, memory loss and depression symptoms, as well as loss of autonomy at more advanced ages. Only three people had reading and writing skills and 16 had good social relationships and friend-making skills. CONCLUSION: The study confirms that premature aging in Down syndrome starts in adulthood, and therapeutic follow-up is recommended with the implementation of interventions to prevent deficits and stimulate cognition, and activities for quality of life.

OBJETIVO: Descrever aspectos genéticos e características de envelhecimento precoce na síndrome de Down. MÉTODO: Estudo descritivo transversal de 28 indivíduos com síndrome de Down, entre 20 e 54 anos de idade (13 mulheres e 15 homens), atendidos em programa universitário de genética comunitária por solicitação de instituições filantrópicas especializadas, que oferecem apoio a pessoas com deficiência e suas famílias. Os dados genéticos e funcionais foram registrados em ficha de anamnese. RESULTADO: A análise cariotípica mostrou trissomia 21 livre, com apenas um caso hereditário de translocação entre os cromossomos 15/21. Constataram-se dificuldades funcionais na locomoção, sedentarismo, desordens de conduta, perda de memória e depressão, assim como a perda de autonomia em idades mais avançadas. Apenas três pessoas tinham domínio da leitura e escrita e 16 apresentavam bom relacionamento social e habilidades de fazer amigos. CONCLUSÃO: O estudo realizado confirma que sinais de envelhecimento precoce na síndrome de Down podem ser verificados já na fase adulta, sendo recomendado o acompanhamento terapêutico com implantação de medidas de prevenção aos déficits, estimulo à cognição e atividades voltadas à qualidade de vida.

Capacidade para o trabalho entre trabalhadores do Brasil / Work ability among workers in Brazil

Contexto: A capacidade para o trabalho é um conceito que envolve condições físicas, mentais e sociais, além de ser um construto subjetivo que poderá acompanhar trabalhadores em nível individual ou coletivo. Objetivos: Descrever o perfil das produções científicas sobre capacidade para o trabalho entre trabalhadores do Brasil e identificar a prevalência e os fatores associados à capacidade para o trabalho. Métodos: Trata-se de uma revisão sistemática realizada na Biblioteca Virtual de Saúde e na Scopus. Os estudos selecionados foram aqueles publicados de 1996 a 2013, tendo como população-alvo os trabalhadores do Brasil e que utilizaram o índice de capacidade para o trabalho (ICT). Resultados: As produções científicas se concentraram nas áreas da Saúde Pública e de Enfermagem, nas regiões Sudeste e Sul do país e com trabalhadores de Enfermagem e do setor de produção. A prevalência da capacidade para o trabalho inadequada (0,0 a 81,2%) variou entre as diferentes categorias profissionais. Os fatores associados à capacidade para o trabalho foram os individuais, relacionados à saúde, e aqueles referentes às condições de trabalho ambiental e organizacional. Conclusões: Com base nos resultados e considerando a capacidade para o trabalho inadequada, um agravo evitável no campo da saúde do trabalhador, são necessárias ações e estratégias nos ambientes de trabalho para prevenção e promoção da saúde dos trabalhadores brasileiros. Também são necessários maiores investimentos em pesquisas longitudinais e de intervenção com diversos grupos de trabalhadores do Brasil.

Context: The ability to work involves physical, mental, and social conditions, as well as being a subjective construct that can be related to workers at the individual or collective level. Objectives: To describe the profile of scientific productions on the ability to work among Brazilian workers and to identify the prevalence and factors associated with the ability to work. Methods: This is a systematic review carried out in the Virtual Health Library and in Scopus. Studies selected were those published from 1996 to 2013, whose target population was Brazilian workers and which used the work ability index (WAI). Results: The scientific productions focused on the fields of Public Health and Nursing, in the Southeast and South regions of the country, and on workers in the Nursing and production fields. The prevalence of inadequate work abilities (0.0 to 81.2%) varied among the different professional categories. Factors associated with the ability to work were individual, health-related, and those related to environmental and organizational working conditions. Conclusions: Based on the results and considering inadequate work ability, which is an avoidable problem in the worker's health field, actions and strategies are necessary for prevention and promotion of health among Brazilian workers. Further investments are also needed in longitudinal and interventional studies with various groups of Brazilian workers.

Influence of RNA interference in p53 gene on the expressions of genes involved in ultraviolet B-induced premature senescence and photocarcinogenesis in human skin fibroblasts / 中华皮肤科杂志

Objective To evaluate the effect of RNA interference in p53 gene on the expressions of genes involved in ultraviolet B (UVB)-induced premature senescence and photocarcinogenesis in human skin fibroblasts (HSFs).Methods A previously established HSF cell clone with repressed expression of p53,which was named as HSF-p53,was cultured and irradiated with a subcytotoxic dose (10 mJ/cm2) of UVB once a day for five consecutive days.The HSFs with normal expression of p53 served as the control.Subsequently,β-galactosidase (SA-β-gal)-staining was performed to estimate the degree of senescence,quantitative real-time PCR array was performed to determine the mRNA expressions of photocarcinogenesis-and senescence-associated genes,including p53,p21,p19,p16,pRb,fibronectin,osteonectin,smooth muscle 22 (SM22),bax,bcl-2,hypoxia-inducible factor-1 α (HIF-1α),vascular endothelial growth factor(VEGF),and human double minute-2 (hdm2).Statistical analysis was carried out by Student's t test using the software SPSS 10.0.Results The percentage of SA-β-gal-positive cells in irradiated HSF-p53 was 19.70％ ± 0.85％,significantly higher than that in unirradiated HSF-p53 (12.77％ ± 0.81％,t =6.45,P ＜ 0.05),but lower than that in irradiated control HSFs (50.48％ ± 5.30％,t =7.86,P ＜ 0.05),and similar to that in unirradiated control HSFs (18.50％ ± 0.45％,t =2.57,P ＞ 0.05).Compared with the control HSFs,the HSF-p53 showed decreased expressions of p21,p19,fibronectin,osteonectin,SM22 and bax genes (all P ＜ 0.05),but increased expressions of bcl-2,HIF-1α,VEGF and hdm2 genes (all P ＜ 0.05),and a similar expression of p16 gene (P ＞ 0.05); the repeated UVB radiation significantly promoted the expressions of p16 and pRb genes (both P ＜ 0.05),but had no obvious effect on the expressions of the other genes in HSF-p53 compared with unirradiated HSF-p53 (all P ＞ 0.05).Conclusions The inhibition of p53 expression may decelerate the UVB-induced premature senescence in HSFs,which may be involved in the p53-dependent tumor suppression.

Você conhece esta síndrome? / Do you know this syndrome?

A Síndrome de Huntchinson-Gilford (Progeria) é uma rara doença autossômica dominante, caracterizada pelo envelhecimento precoce. Relata-se caso de uma criança, que aos 6 meses iniciou alopecia na região occipital e placas esclerodermiformes no abdome. Esta síndrome apresenta alterações em vários órgãos e sistemas como a pele, esquelético e sistema cardiovascular. O diagnóstico é clínico e não possui tratamento, porém seu reconhecimento é necessário para minimizar a aterosclerose precoce através do controle da dislipidemia.

Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.