Hidronefrose na síndrome de Schinzel-Giedion: um achado importante para o diagnóstico

A síndrome de Schinzel-Giedion é uma patologia genética rara de etiologia desconhecida e herança autossômica recessiva. Caracteriza-se pela presença de um fácies grotesco, hipoplasia da porção média da face, hipertricose, múltiplas anomalias esqueléticas, malformações cardíacas e renais.As anomalias craniofaciais desta síndrome podem lembrar o fácies de uma doença metabólica de depósito. O objetivo deste relato foi enfatizar a importância da hidronefrose congênita bilateral no diagnóstico da síndrome de Schinzel-Giedion . Descrevemos o primeiro caso brasileiro de um recém-nascido com fácies típico, hipertricose generalizada, anomalias esqueléticas, cardíacas e hidronefrose bilateral, detectada pela ultrassonografia fetal e, posteriormente, confirmada pelo mesmo método. O estudo cromosômico foi normal. Na literatura, de 35 casos descritos, 31 apresentavam hidronefrose, o que constitui um achado fundamental para o diagnóstico da patologia. Dessa forma, acreditamos que se a síndrome de Schinzel-Giedion fosse indexada como uma das causas de hidronefrose congênita, seu diagnóstico seria facilitado, uma vez que a maioria dos outros achados desta síndrome, com exceção da hidronefrose, é inespecífica e comum a diversas outras síndromes genéticas.Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes

O crime organizado e as novas tecnologias : uma faca de dois gumes

O benefício que determinados Estados retiram das novas tecnologias é incalculável. Contudo, não são os únicos a tirar partido dessas vantagens. O crime organizado, e em especial o cibercrime, aproveita as vulnerabilidades dos sistemas de informação, em que as nossas sociedades estão baseadas, para lucro próprio. Apesar dos conhecimentos que já possuímos sobre este tipo de criminalidade, os nossos esforços não têm conseguido travar o número crescente de ataques cibernautas, nem evitar o aumento das perdas das empresas e dos particulares. Não devemos, no entanto, cair no erro pessimista de pensar que não existe nenhuma forma eficiente de combater o cibercrime. Existe todavia, muito trabalho por desenvolver. Desde a consciencialização da população, para os perigos inerentes à Internet, até à formação de recursos humanos mais qualificados, passando pela investigação e a cooperação entre sectores, há sem dúvida muito ainda por fazer. Adoptámos as novas tecnologias, resta-nos agora aceitar por completo as responsabilidades que elas acarretam

Transmission of signals using white LEDs for VLC applications

In this paper an integrated wavelength optical filter and photodetector for Visible Light Communication (VLC) is used. The proposed application uses indoor warm light lamps lighting using ultra-bright white LEDs pulsed at frequencies higher than the ones perceived by the human eye. The system was analyzed using two different types the white LEDs, namely, phosphor and trichromatic based LEDs. The signals were transmitted into free space and the generated photocurrent was measured by the pin-pin photodetector based on a-SiC:H/a-Si:H. This device operates in the visible spectrum, allowing thus the detection of the pulsed white light emitted by the LEDs. However, as it also works as a visible optical filter with controlled wavelength sensitivity through the use of adequate optical biasing light, it is able to detect different wavelengths. This feature allows the detection of the individual components of the tri-chromatic white LED, which enlarges the amount of information transmitted by this type of white LED, when compared to the phosphor based LED. A capacitive optoelectronic model supports the experimental results and the physical operation of the device. A numerical simulation is presented.info:eu-repo/semantics/publishedVersio

Intrauterine Growth Restriction and Zinc Concentrations in Term Infants during the First Month of Life

Objective: We analyzed the influence of IUGR on the concentrations of plasma (Znpl) and erythrocyte (Zne) zinc and on the ratios of Zne to Znpl (Zne:Znpl) and Zne to hemoglobin (Zne:Hb) in term infants during the first month of life. Design: Cohort study. Setting: Tertiary Care Neonatal Unit. Subjects: Exclusively breastfed term newborns (n = 84) were divided into 3 groups: group 1, without IUGR (n = 41), group II. with mild to moderate IUGR (n = 12). and group III, with severe IUGR (n = 31). IUGR was defined as birth weight under the 5th percentile of the Alexander et at curve and as a Kramer Index (KI: ratio of birth weight to estimated weight for each gestational age) <0.85. Severe IUGR was defined as a KI <0.75. Znpl, Zne. and Hb were measured at birth. 3 days, and 1 month of life. Results: Znpl tended to decrease (P = 0.073), Zne and Zne:Znpl increased (P < 0.001), and Hb decreased (P < 0.001) during the first month of life. There was not Znpl, Zne and Zne:Znpl time by group interaction. Zne:Hb increased (P < 0.001) during the first month of life and was lower in Group II at I month of age. Differences between Groups I and If (P = 0.017) and Groups II and III at I month of age (P = 0.011) were detected. Conclusions: Our results suggest that IUGR did not have association with erythrocyte zinc and Zne:Hb ratio at birth. However. neonatal nutrition could have influenced zinc incorporation during this period, through Zne increase

Small-Scale Variations in Urban Air Pollution Levels Are Significantly Associated with Premature Births: A Case Study in São Paulo, Brazil

Premature birth is the result of a complex interaction among genetic, epigenetic, behavioral, socioeconomic, and environmental factors. We evaluated the possible associations between air pollution and the incidence of prematurity in spatial clusters of high and low prevalence in the municipality of S&atilde;o Paulo. It is a spatial case-control study. The residential addresses of mothers with live births that occurred in 2012 and 2013 were geo-coded. A spatial scan statistical test performed to identify possible low-prevalence and high-prevalence clusters of premature births. After identifying, the spatial clusters were drawn samples of cases and controls in each cluster. Mothers were interviewed face-to-face using questionnaires. Air pollution exposure was assessed by passive tubes (NO2 and O3) as well as by the determination of trace elements&rsquo; concentration in tree bark. Binary logistic regression models were applied to determine the significance of the risk of premature birth. Later prenatal care, urinary infection, and hypertension were individual risk factors for prematurity. Particles produced by traffic emissions (estimated by tree bark accumulation) and photochemical pollutants involved in the photochemical cycle (estimated by O3 and NO2 passive tubes) also exhibited significant and robust risks for premature births. The results indicate that air pollution is an independent risk factor for prematurity