ABSTRACT
BACKGROUND: Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated in reproductive problems such as recurrent pregnancy loss. They may also be associated with congenital abnormalities in the offspring of carriers. Due to its genomic architecture, chromosome 15 is frequently associated with rearrangements and the formation of sSMCs. Recently, several different CNVs have been described at 16p11.2, suggesting that this region is prone to rearrangements. RESULTS: We detected the concomitant occurrence of partial trisomy 15q and 16p, due to a complex sSMC, in a 6-year-old girl with clinical phenotypic. The karyotype was analyzed by G and C banding, NOR staining, FISH and SNP array and defined as 47,XX,+der(15)t(15;16)(q13;p13.2)mat. The array assay revealed an unexpected complex sSMC containing material from chromosomes 15 and 16, due to an inherited maternal translocation (passed along over several generations). The patient's phenotype included microsomia, intellectual disability, speech delay, hearing impairment, dysphagia and other minor alterations. DISCUSSION: This is the first report on the concomitant occurrence of partial trisomy 15q and 16p. The wide range of phenotypes associated with complex sSMCs represents a challenge for genotype-phenotype correlation studies, accurate clinical assessment of patients and genetic counseling.
ABSTRACT
Introdução: A poluição atmosférica nos centros urbanos tem sido identificada como um grave problema de saúde pública, de modo mais concreto, desde o começo do século 20. Objetivo: Avaliar a relação entre a poluição do ar e as internações de idosos por insuficiência cardíaca congestiva (ICC), no Município de Santo André. Casuística e métodos: Estudo ecológico de séries temporais. Informações sobre internação de idosos (mais de 60 anos) por ICC (Código Internacional de Doenças 10ª revisão: I50) para o município de Santo André foram obtidas junto ao DATASUS. Informações sobre nível diário de PM10, temperatura mínima e umidade média foram obtidas junto à CETESB. Foi realizada a análise descritiva, a correlação de Pearson e o modelo linear generalizado de regressão de Poisson para estimar os efeitos dos poluentes no desfecho no dia da exposição e até 20 dias após, controlando-se para sazonalidades de longa e curta duração, feriados e fatores meteorológicos. Resultados: A média de internação de idosos por ICCdurante o período de estudo foi de 0,71 (dp = 0,91), variando entre zero a seis casos por dia. Para um aumento de 24,6 ug/m3 de PM10, observou-se um aumento de 3,8% (IC95% = 0,4-7,2) nas internações por ICC no mesmo dia da exposição. Conclusão: O estudo mostrou um efeito agudo dos níveis de PM10 sobre as internações de idosos por ICC no município de Santo André.
Background: Air pollution in urban centers has been identified as a serious public health issue, more specifically, from the early 20th century. Objective: To evaluate the relationship between air pollution and hospital admissions of elderly patients for congestive heart failure (CHF) in the Municipality of Santo André. Methods: An ecological time series. Information on admission of elderly CHF for the municipality of Santo André was obtained from DATASUS. Information on daily level of PM10, mean minimum temperature and humidity were obtained from CETESB. We performed a descriptive analysis, Pearson correlation, and the generalized linear Poisson regression model to estimate the effects of pollutants on the outcome from the day of the exposition and 20 days after, controlling for seasonality, weather variables and short-term trend. Results: The average of CHF admissions during the period of study was 0.71 (sd = 0.91), ranging from zero to six cases per day. An increase of 24.6 mg/m3 in PM10 was associated with an increase of 3.8% (CI95% = 0,4-7,2) in hospitalizations for CHF in the same day of exposure. Conclusion: The study showed an acute effect of PM10 on hospital admissions of elderly patients for CHF in the municipality of Santo André.
