Suchergebnisse

O Objetivo do presente artigo é, "analisar as possíveis conexões entre a Reforma do Ensino Médio, mais especificamente, o ordenamento proposto pela Lei 13.415/17, as demandas do Capital e as expectativas da burguesia". Partimos da problematização de que o Estado, procura orientar as alterações no Ensino Médio, no sentido de construir o consenso para as posições da classe dominante, para que, os estudantes das classes subalternas associem a realização de seus sonhos de um futuro melhor, a uma educação atrelada aos interesses do capital, a continuidade dos processos de valorização do valor. Ou seja, que o processo capitalista de produção que os explora, permaneça como horizonte possível no futuro imediato, sem maiores resistências. Por meio de uma revisão bibliográfica, pesquisa de campo e de relatos de experiência, traçamos nossa análise destacando os efeitos Reforma do Ensino Médio, a influência da Estratégia Democrática Popular na Educação, Estado e classes sociais.

Resumen del trabajo presentado en el 25th EAA Annual Meeting: Beyond paradigms, celebrado en Bern (Suiza), del 4 al 7 de septiembre de 2019 ; Landscape evolution and environmental change in Lisbon have been addressed by the use of multi-proxy analysis, including pollen, non-pollen-palynomorphs and sedimentological data preserved in a sedimentary core retrieved in a sub-tidal area of the northern Tagus margin. Four radiocarbon dates indicate that the record covers from 1st century cal AD to late 6th century cal AD. Data cross-check with available archaeological information of the city enables for the reconstruction of palaeoenvironmental dynamics during circa 600 yr period at high resolution. Main results evidence that the area of Lisbon was an open landscape with little woodlands and high human impact at least since the 1st century cal AD. A higher influence of human activity has been identified in early 3rd century cal AD. A change in the sedimentary record has been identified in early 3rd century cal AD that can be related with natural events or higher human activity. A marked sedimentological change occurred in early 4th century AD, coincident with the late Roman period, and suggesting a change in the behaviour of the Tagus tributaries. A new phase of increase human impact has been identified in late 5th century cal AD. The diverse rhythms of environmental change occurred in accordance with social and political evolution of the area and evidence the usefulness of transdisciplinary and multi-proxy approach in landscape archaeology studies.

Oculo-auriculo-vertebral Spectrum (OAVS), also known as Craniofacial Microsomia or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies also may be observed, including congenital heart diseases, which are the main cause of OAVS deaths. Some recent studies have been investigated genomic imbalances in patients with this condition and deletions or duplications in the 22q11.2 region represent the most frequent alterations found in OAVS. The chromosome 22 has eight low copy repeats (LCRs) named from A to H, being the proximal deletion of ~3Mb (LCR22A-LCR22D) associated with 22q11.2 deletion Syndrome. There are five cases of OAVS with distal 22q11.2 deletion described in the literature. In this study, we report a patient with OAVS and a distal deletion in the 22q11.2 regions between LCRs D and E. The proband is a girl, first child of healthy, young and non-consanguineous parents. She was referred for genetic evaluation because she presented cleft lip and palate, intestinal atresia, annular pancreas, hydronephrosis and congenital heart disease. The dysmorphologic evaluation also revealed bilateral pre-auricular tags, left auditory canal stenosis, right nasal cleft and zygomatic hypoplasia with facial asymmetry. The genomic imbalances investigation was performed by MLPA technique using P250-B2 DiGeorge (MRC-Holland MLPA®) kit, and array genomic hybridization (aGH) using the CytoScan 750K Array chip (Affymetrix®, Santa Clara, CA, USA), which revealed a distal deletion of 1.498 kb at 22q11.2 encompassing the region from LCR22-D to LCR22-E. This is the sixth case of OAVS associated of distal 22q11.2 deletions and the second encompassing the region between LCR22-D to LCR22-E (type I deletion). All share some phenotypic signs, such as pre-auricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Some candidate genes in this region have been studied by having an important role in pharyngeal arches development and in congenital heart diseases, such as YPEL1, HIC2 e MAPK1/ERK2. This case contributes to genotype-phenotype correlation and reinforces that candidate genes for OAVS, in the 22q11.2 region, may be located between LCRs D and E.Financial Support: FAEPEX-UNICAMP, FAPESP, CAPES e CNPq

Submicroscopic deletions in chromosome 19 have been rarely reported. The aim of this study was to describe the genotype-phenotype correlation of a 19p13.11-p13.12 deletion. A male patient was referred for genetic evaluation by presenting neurodevelopmental delay and facial dysmorphisms. He is the first child of non-consanguineous parents. Pregnancy and delivery were uneventful. Anthropometrical data at seven-year-old were weight 25,4 kg (p75), length 120 cm (p50) and head circumference 47,3 cm (< -2SD). It was also observed malar hypoplasia, low-set and dysmorphic ears, bilateral preauricular tags, synophrys, short nose with anteverted nares and flat nasal bridge, down-turned corners of the mouth, long philtrum, micrognathia, high palate and congenital clubfoot. Abdominal ultrasonography showed pyelocaliceal ectasia, transfontanellar ultrasound revealed mild enlargement of magna cisterna and a small cyst ate nucleous caudatus. GTG-banding was normal and chromosomal microarray analysis (CMA), using the CytoScan HD Array (Affymetrix®, Santa Clara, CA, USA) showed an interstitial

LLoss of heterozygosity (LOH) also called absence of heterozygosity (AOH) or regions of homozygosity (ROH) can be detected by SNP-array analysis. It is observed in regions identical by descent or occurs because of errors in the mechanisms of recombination between homologous chromosomes, DNA replications or DNA repair. The 22q11.2 deletion syndrome (22q11.2DS) has a prevalence of 1/4000 live births and an extensive clinical variability. About 30% of individuals with 22q11.2DS clinical suspicion have been diagnosed with the typical 22q11.2 deletion and other genomic imbalances are often reported related to similar phenotypes. However, most of patients remain without an etiological diagnosis. Currently, there are few studies about LOH in individuals with developmental delay/congenital anomalies. The aim of this study is to describe the preliminary results of LOH analysis in individuals with clinical suspicion of 22q11.2DS. Inclusion criteria was individuals with clinical suspicion without the typical 22q11.2 deletions, previously tested by Fluorescent in situ Hybridization (FISH) or Multiplex Ligation Probe-dependent Amplification (MLPA). Exclusion criteria was parental consanguinity. A total of 124 individuals were investigated by chromosomal microarray analysis (CMA) using the CytoScan HD or 750K Array (Affymetrix®). Data were compared with a database composed by 114 control individuals from Brazilian general population. We considered only LOH biggest than 3Mb and not frequent (<1%) in control individuals. The presence of LOH was more often in the patients than in the control group (12,1% against 3,5%). In the patient group the LOH size were between 3,3Mb and 46,2Mb (average size 22,7Mb) and in the control group it was between 3,1Mb and 8,5Mb (average size 6,0Mb). It was observed only one large LOH for almost all patients, and for almost all the control group it was observed two small LOHs. Among patients with LOH, six also carried VOUS (variants of uncertain significance) and one had a pathogenic imbalance. Laboratorial confirmations and genotype-phenotype correlation are in progress. Our results clearly show a higher proportion and bigger size of LOHs in individuals with developmental delay/congenital anomalies and a possible applicability of LOH analysis as a diagnostic approach in individuals with the same characteristics of the present sample.Support: Fapesp and CNPq

Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009, Brazil's Craniofacial Project, a multicenter and voluntary research initiative, collects socioeconomic, medical, and genetic information on individuals with craniofacial anomalies through the Brazilian Database on Craniofacial Anomalies (BDCA). This article discusses challenges to the provision of genetic assessment and counselling for individuals with syndromic oral clefts (SOC) through public health services in LMIC, such as Brazil. Subjects were selected using methods of the BDCA as described elsewhere. Among 800 records, 66 assigned as SOC with no etiologic diagnosis were preselected for genomic imbalance screening. Only 28 have timely completed basic protocol using public health services, and 22 were able to perform chromosomal microarray analysis. Pathogenic genomic imbalances were identified in 4 (18.18%) and a copy number variation of uncertain clinical significance was detected in one. Results exemplify barriers faced by the majority of the population of Brazil to reach whole genetic assessment either through public genetic services or in research settings. In this unfavorable scenario, BDCA has allowed the recognition of individuals with similar needs, optimizing the scarce genetic laboratory facilities in Brazil. Ultimately, BDCA has facilitated the translation of research into care. This experience may be successfully extended to other congenital anomalies and to LMIC with similar characteristics. A set of suggestions focusing on oral clefts is provided.

As síndromes de Prader-Willi (SPW) e Angelman (SA) possuem características clínicas distintas e suas prevalências são de :5.000 a :25.000 nascimentos. A etiologia dessas síndromes está relacionada com alterações na região q a q3 do cromossomo 5, que contém um grupo de genes imprintados. O objetivo deste trabalho foi realizar um estudo retrospectivo de pacientes com suspeita clínica de SPW e SA, e realizar análises citogenéticas e moleculares complementares. Foram revisados os resultados de cariótipo e teste de metilação. As técnicas de Hibridação in situ fluorescente (FISH) com a sonda MD IGFR(5q26)/SNRPN/UBE3A(5q) – Podeidon-Kreatech Diagnostics; e hibridação genômica em array (aGH) utilizando a plataforma CytoScan 750 K array (Affymetrix® Microarray Solutions, Santa Clara, CA) foram empregadas em casos pertinentes. Dos 30 pacientes analisados, o teste de metilação confirmou nove de 23 casos com suspeita de SPW e um de sete casos com suspeita de SA. Todos os pacientes com suspeita clínica de SPW e teste de metilação normal, também possuíam cariótipo normal. Entre os pacientes que tiveram a SPW confirmada através do teste de metilação, sete possuíam resultado de cariótipo normal e dois tinham cariótipo alterado. Em um caso foi identificada a deleção 5q2q2, confirmada por FISH, e, no outro caso, foi encontrada uma translocação Robertsoniana envolvendo os cromossomos 4 e 5. O resultado de FISH foi normal, enquanto a técnica de aGH mostrou uma dissomia uniparental (DUP) segmentar materna em 5q.2-q4. Entre os pacientes com suspeita clínica de SA com metilação normal, cinco tiveram resultado de cariótipo normal e uma apresentou uma inserção entre os cromossomos 9 e 5. O resultado de aGH desta paciente também foi normal. O paciente com a síndrome confirmada pelo teste de metilação possui resultado de cariótipo alterado e a análise do cariótipo dos familiares permitiu constatar que se trata de um rearranjo cromossômico herdado da família materna do paciente. Através dos resultados obtidos conclui-se que o teste de metilação é eficiente para a confirmação do diagnóstico de SPW e SA, porém, os casos relatados neste trabalho, associados a rearranjos cromossômicos, mostram que a análise citogenética contribui para o aconselhamento genético adequado das famílias. Apoio financeiro: FAEPEX-UNICAMP.

Refined baseline inventories of non-indigenous species (NIS) are set per European Union Member State (MS), in the context of the Marine Strategy Framework Directive (MSFD). The inventories are based on the initial assessment of the MSFD (2012) and the updated data of the European Alien Species Information Network, in collaboration with NIS experts appointed by the MSs. The analysis revealed that a large number of NIS was not reported from the initial assessments. Moreover, several NIS initially listed are currently considered as native in Europe or were proven to be historical misreportings. The refined baseline inventories constitute a milestone for the MSFD Descriptor 2 implementation, providing an improved basis for reporting new NIS introductions, facilitating the MSFD D2 assessment. In addition, the inventories can help MSs in the establishment of monitoring systems of targeted NIS, and foster cooperation on monitoring of NIS across or within shared marine subregions.

Refined baseline inventories of non-indigenous species (NIS) are set per European Union Member State (MS), in the context of the Marine Strategy Framework Directive (MSFD). The inventories are based on the initial assessment of the MSFD (2012) and the updated data of the European Alien Species Information Network, in collaboration with NIS experts appointed by the MSs. The analysis revealed that a large number of NIS was not reported from the initial assessments. Moreover, several NIS initially listed are currently considered as native in Europe or were proven to be historical misreportings. The refined baseline inventories constitute a milestone for the MSFD Descriptor 2 implementation, providing an improved basis for reporting new NIS introductions, facilitating the MSFD D2 assessment. In addition, the inventories can help MSs in the establishment of monitoring systems of targeted NIS, and foster cooperation on monitoring of NIS across or within shared marine subregions.

Refined baseline inventories of non-indigenous species (NIS) are set per European Union Member State (MS), in the context of the Marine Strategy Framework Directive (MSFD). The inventories are based on the initial assessment of the MSFD (2012) and the updated data of the European Alien Species Information Network, in collaboration with NIS experts appointed by the MSs. The analysis revealed that a large number of NIS was not reported from the initial assessments. Moreover, several NIS initially listed are currently considered as native in Europe or were proven to be historical misreportings. The refined baseline inventories constitute a milestone for the MSFD Descriptor 2 implementation, providing an improved basis for reporting new NIS introductions, facilitating the MSFD D2 assessment. In addition, the inventories can help MSs in the establishment of monitoring systems of targeted NIS, and foster cooperation on monitoring of NIS across or within shared marine subregions. ; Henn Ojaveer and Maiju Lehtiniemi wish to acknowledge the project COMPLETE (Completing management options in the Baltic Sea region to reduce risk of invasive species introduction by shipping), co-financed by the European Union's funding Programme Interreg Baltic Sea Region (European Regional Development Fund). João Canning-Clode was supported by a starting grant in the framework of the 2014 FCT Investigator Programme (IF/01606/2014/CP1230/CT0001) and wish to acknowledge the support of Fundação para a Ciência e Tecnologia (FCT), through the strategic project UID/MAR/04292/2019 granted to MARE.

Refined baseline inventories of non-indigenous species (NIS) are set per European Union Member State (MS), in the context of the Marine Strategy Framework Directive (MSFD). The inventories are based on the initial assessment of the MSFD (2012) and the updated data of the European Alien Species Information Network, in collaboration with NIS experts appointed by the MSs. The analysis revealed that a large number of NIS was not reported from the initial assessments. Moreover, several NIS initially listed are currently considered as native in Europe or were proven to be historical misreportings. The refined baseline inventories constitute a milestone for the MSFD Descriptor 2 implementation, providing an improved basis for reporting new NIS introductions, facilitating the MSFD D2 assessment. In addition, the inventories can help MSs in the establishment of monitoring systems of targeted NIS, and foster cooperation on monitoring of NIS across or within shared marine subregions. ; peer-reviewed

Refined baseline inventories of non-indigenous species (NIS) are set per European Union Member State (MS), in the context of the Marine Strategy Framework Directive (MSFD). The inventories are based on the initial assessment of the MSFD (2012) and the updated data of the European Alien Species Information Network, in collaboration with NIS experts appointed by the MSs. The analysis revealed that a large number of NIS was not reported from the initial assessments. Moreover, several NIS initially listed are currently considered as native in Europe or were proven to be historical misreportings. The refined baseline inventories constitute a milestone for the MSFD Descriptor 2 implementation, providing an improved basis for reporting new NIS introductions, facilitating the MSFD D2 assessment. In addition, the inventories can help MSs in the establishment of monitoring systems of targeted NIS, and foster cooperation on monitoring of NIS across or within shared marine subregions.