Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation

Tricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1. TRPS I is generally caused by point mutations or deletions of the TRPS1 gene, whereas type II is characterised by the presence of multiple cartilage exostoses (EXT) and deletions comprising the TRPS1 and EXT1 genes. In the present study, we have mapped and sequenced the breakpoints of a balanced familial translocation [t(8;13)(q23.3;q21.32)] segregating with mild TRPS I and analysed the TRPS1 candidate gene. The proband, in addition to features compatible with TRPS I, also presented developmental delay and severe mental retardation. The pathogenic chromosome 8 breakpoint was localised within a transposon type I element at 116.768 Mb, 87 kb from the TRPS1 5′ end. The breakpoint on chromosome 13 was localised within a gene-poor region at 65.101 Mb, and the nearest gene, 1.5 Mb distal from the breakpoint, is protocadherin 9 (PCDH9). Analysis of the three affected relatives by the 33K tiling BAC array and of the proband by 2.7-M high-resolution oligonucleotide array painting did not reveal additional genomic variation. Furthermore, mutation screening of the TRPS1 also did not reveal any alteration. Finally, expression studies of TRPS1 performed from LCLs indicate that inter-individual variation is higher than the expected gene expression changes induced by the translocation. Although the reason underlying the severe mental retardation observed in the proband is unknown, the available data indicate that this is not associated with the translocation. As far as we know, this is the first reported case of position effect or “cis-ruption” causing TRPS I. Finally, further studies are necessary to unveil the molecular pathogenic mechanisms of this “cis-ruption disorder” triggered by chromosometranslocation

Mixed reality in the operating room: a systematic review

Review[Abstract] Mixed Reality is a technology that has gained attention due to its unique capabilities for accessing and visualizing information. When integrated with voice control mechanisms, gestures and even iris movement, it becomes a valuable tool for medicine. These features are particularly appealing for the operating room and surgical learning, where access to information and freedom of hand operation are fundamental. This study examines the most significant research on mixed reality in the operating room over the past five years, to identify the trends, use cases, its applications and limitations. A systematic review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to answer the research questions established using the PICO (Population, Intervention, Comparator and Outcome) framework. Although implementation of Mixed Reality applications in the operations room presents some challenges, when used appropriately, it can yield remarkable results. It can make learning easier, flatten the learning curve for several procedures, and facilitate various aspects of the surgical processes. The articles’ conclusions highlight the potential benefits of these innovations in surgical practice while acknowledging the challenges that must be addressed. Technical complexity, equipment costs, and steep learning curves present significant obstacles to the widespread adoption of Mixed Reality and computer-assisted evaluation. The need for more flexible approaches and comprehensive studies is underscored by the specificity of procedures and limited samples sizes. The integration of imaging modalities and innovative functionalities holds promise for clinical applications. However, it is important to consider issues related to usability, bias, and statistical analyses. Mixed Reality offers significant benefits, but there are still open challenges such as ergonomic issues, limited field of view, and battery autonomy that must be addressed to ensure widespread acceptance

#071. Protocolo informático para análise volumétrica de preservações alveolares – estudo piloto

Objetivos: Na última década, a preservação alveolar com recurso a biomateriais tem adquirido alguma relevância na prática clínica médico‐dentária. Contudo, a quantificação exata dos seus resultados clínicos é de difícil aferição, dado envolver volumes de tecidos moles e duros. Atualmente, têm sido usadas técnicas de imagiologia tridimensional que permitem avaliar essas alterações com maior precisão, destacando‐se a sobreposição baseada no volume de cada elemento da imagem (voxels). Assim, esta investigação pretendeu desenvolver um protocolo informático para obter: 1) uma prova de conceito da utilização de uma ferramenta informática de processamento de imagem tridimensional, com sobreposição e análise de diferentes volumes; 2) uma quantificação de alterações do volume ósseo em casos de preservação alveolar. Materiais e métodos: Foram selecionados exames tomográficos de pacientes (n = 3), nos quais foi realizada a preservação alveolar prévia à colocação de implantes dentários. Os exames foram realizados antes da cirurgia de preservação alveolar (T0) e 6 meses depois, previamente à cirurgia implantar (T1) A preservação alveolar foi efetuada em todos os casos com Osteobiol Gen‐Os® e Membrana Evolution, sendo que no caso 2 foi realizado um sobre contorno com o material xenogeno. O processamento informático teve as seguintes etapas: 1) Software Simplant®: importação dos exames tomográficos; reconstrução 3 D da área intervencionada; exportação do modelo em formato steriolitography (STL); 2) Software Geomagic®: sobreposição dos modelos 3 D com a função «Best‐Fit‐Alignment». Quantificação das variações tridimensionais entre os diferentes momentos. Resultados: No caso 1, obteve‐se uma perda de volume aproximada de 342,74 mm3 após a preservação alveolar, no sentido horizontal e vertical. No caso 2, obteve‐se um aumento de volume horizontal aproximado de 118,32 mm3, uma vez que se procedeu a um ligeiro sobrecontorno do rebordo alveolar. Não impedindo a perda óssea vertical. No caso 3, obteve‐se uma perda de volume aproximada de 77,06 mm3 após a preservação alveolar, no sentido horizontal e vertical. Conclusões: A grande vantagem da sobreposição de modelos utilizando os voxels é que os resultados da análise estatística dos pontos de referência podem ser visualizados através de formas ou deformações, dando‐nos a indicação dos locais onde ocorreu alteração nas dimensões. A metodologia descrita funcionou como prova de conceito na quantificação das alterações de volume nos casos clínicos de preservação alveolar.info:eu-repo/semantics/publishedVersio

Climatic extremes in Portugal in the 1780s based on documentary and instrumental records

The final stage of the Little Ice Age in Europe was characterized by strong climatic variability. New documentary sources containing information referring to weather and climate are used in this study to reconstruct and to describe climate conditions in Portugal during the 18th century, mainly in the 1780s. Indexation of documentary data concerning hydric and thermal conditions was based on C. Pfister’s methodology and early instrumental data (1780s and 1790s) were used to verify the reconstruction. Precipitation and temperature were highly variable throughout the 18th century: an alternation of extremely hot to extremely cold months was found. Very cold years occurred mostly in the first 2 decades of the 18th century, but several other cold winters were also detected. Precipitation information is far more frequent than for temperature, and allowed yearly and seasonal indexations. The highest variability was detected in the 1730s and the 1780s. The early 1780s were very dry: during the winter and spring of 1781 and the spring of 1782 several drought episodes occurred, as confirmed by ‘pro-pluvia’ rogations. In contrast, heavy precipitation prevailed from 1784 onwards. The year 1786 was the rainiest in Portugal, triggering floods in northwestern and central Portugal. The year of 1788 was extremely wet and rainfall caused floods along the largest rivers: Douro, Mondego and Tagus. A storm that struck north - western Iberia between 23 and 24 February 1788 is analyzed in detailKLIMHIST: Reconstruction and model simulations of past climate in Portugal using documentary and early instrumental sources (17th-19th century) (PTDC/AAC-CLI/119078/2010

#070. Protocolo informático para análise tridimensional de tecidos moles no planeamento cirúrgico

Objetivos: A medição da espessura gengival é essencial em qualquer planeamento cirúrgico de implantes. Deste modo, esta investigação pretendeu desenvolver um protocolo informático para obter: 1) uma prova de conceito da utilização de uma ferramenta informática de processamento de imagem tridimensional, com sobreposição e análise de diferentes volumes; 2) uma quantificação prévia da espessura do volume de tecidos moles em casos clínicos planificados para colocação de implantes dentários. Materiais e métodos: Foram selecionados exames tomográficos de pacientes que necessitavam de colocação de implantes dentários unitários. Neste estudo piloto, foram incluídos 3 pacientes e 5 espaços desdentados. A obtenção dos modelos, de tecidos duros e moles, em formato «Standard Triangle Language» e «Standard Tessellation Language», foi efetuada através de reconstrução 3 D obtida de tomografia computorizada com o programa Simplant®. O software Geomagic Control® permitiu a medição da espessura dos tecidos moles, através da função «Wall Thickness». Resultados: Em todos os casos foram realizadas 5 medições sobre o centro da crista para permitir a obtenção de uma média. Caso 1, espessura média dos tecidos moles – 3,21 mm. Caso 2, espessura média dos tecidos moles – 1,42 mm. Caso 3, espessura média dos tecidos moles – 1,53 mm. Caso 4, espessura média dos tecidos moles – 1,84 mm. Caso 5, espessura média dos tecidos moles – 2,05 mm. Conclusões: A metodologia descrita funcionou como prova de conceito na quantificação da espessura dos tecidos moles em casos clínicos planificados para colocação de implantes, sendo essencial em qualquer avaliação de perda óssea marginal. Os resultados obtidos encontram‐se dentro dos valores padrão encontrados na literatura.info:eu-repo/semantics/publishedVersio

NEVOS RECORRENTES – UMA REVISÃO DE 5 ANOS

The development of a melanocytic lesion at the site where it had been previously excised can place clini- cally and histologically some problems because of the differential diagnosis with melanoma, named by some authors as 'pseudomelanoma. In this study, the authors intend to carry out a comparative analysis between the clinical and the pathologic features of recurrent nevi and primary melanocytic lesions.KEYWORDS – Nevus, Pigmented; Melanoma.A persistência de uma lesão melanocítica, em local onde tenha sido previamente excisado um nevo me- lanocítico pode colocar, clínica e histologicamente, problemas no diagnóstico diferencial com melanoma, designado por alguns autores como ‘pseudomelanoma’. Neste estudo, os autores pretendem realizar uma análise comparativa entre os achados clínicos e histopatológicos das lesões melanocíticas primárias e dos nevos recorrentes. Procura-se também avaliar eventuais factores predisponentes para este fenómeno.PALAVRAS-CHAVE – Nevo recorrente; Pseudomelanoma; Melanoma; Regressão

The current planetary crisis: a missing dimension in science education

The origin of our research has been the intuition that, in spite of some dramatic calls of United Nations experts, the attention paid by science education research to the study of citizens’ awareness of the state of the world and of the danger of an irreversible degradation of life in our Planet, has been very poor. Our work intends to clarify to what extent this essential issue in the education of future decision-making citizens is adequately dealt with in science education research. With this purpose, we have posed open questions to several hundreds of science teachers in training and in service about “problems and challenges that humanity has to face” and we have analysed the content of high school science textbooks (looking for any reference to the state of the world and its future). Results obtained explain why we refer to the state of the world as a missing dimension in science education. This dimension should be urgently incorporated if we want to answer the United Nations call to contribute to the Decade of Education for a Sustainable Future.The origin of our research has been the intuition that, in spite of some dramatic calls of United Nations experts, the attention paid by science education research to the study of citizens’ awareness of the state of the world and of the danger of an irreversible degradation of life in our Planet, has been very poor. Our work intends to clarify to what extent this essential issue in the education of future decision-making citizens is adequately dealt with in science education research. With this purpose, we have posed open questions to several hundreds of science teachers in training and in service about “problems and challenges that humanity has to face” and we have analysed the content of high school science textbooks (looking for any reference to the state of the world and its future). Results obtained explain why we refer to the state of the world as a missing dimension in science education. This dimension should be urgently incorporated if we want to answer the United Nations call to contribute to the Decade of Education for a Sustainable Future

A corrupção participada em Portugal, 2004-2008

Para uma descrição completa do estudo, http://www.apis.ics.ulisboa.pt/catalogo/APIS0066.O projecto pretende contribuir, de uma forma geral, para o conhecimento científico do fenómeno da corrupção através da análise dos processos instaurados nos diversos Serviços do Ministério Público junto dos Tribunais de comarca, a nível nacional, bem como nos DIAP’s regionais e DCIAP, por factos suscetíveis de integrarem crimes de corrupção; participação económica em negócio e peculato a três níveis: 1. Análise do volume de ocorrências dos crimes de corrupção, participação económica em negócio e peculato e sua respetiva distribuição geográfica; 2. Análise sociológica dos intervenientes, objetivos, recursos, contextos e processos de troca envolvidos na prática destes crimes; 3. Análise da dinâmica processual, indagando sobre a capacidade de resposta do sistema de justiça em função do facto e do tipo de denúncia.info:eu-repo/semantics/updatedVersio

In-Situ Anaerobic Heating of Human Bones Probed by Neutron Diffraction

The first neutron diffraction study of in-situ anaerobic burning of human bones is reported, aiming at an interpretation of heat-induced changes in bone, which were previously detected by vibrational spectroscopy, including inelastic neutron scattering techniques. Structural and crystallinity variations were monitored in samples of the human femur and tibia, as well as a reference hydroxyapatite, upon heating under anaerobic conditions. Information on the structural reorganization of the bone matrix as a function of temperature, from room temperature to 1000 °C, was achieved. Noticeable crystallographic and domain size variations, together with O–H bond lengths and background variations, were detected. Above 700 °C, the inorganic bone matrix became highly symmetric, devoid of carbonates and organic constituents, while for the lower temperature range (<700 °C), a considerably lower crystallinity was observed. The present pilot study is expected to contribute to a better understanding of the heat-prompted changes in bone, which can be taken as biomarkers of the burning temperature. This information is paramount for bone analysis in forensic science as well as in archeology and may also have useful applications in other biomaterial studies.info:eu-repo/semantics/publishedVersio

Estudo caso-controle pareado avaliando a frequência dos principais agentes causadores de diarréia neonatal em suínos no Rio Grande do Sul

A case-control study was carried out in litters of 1 to 7-day-old piglets to identify the main infectious agents involved with neonatal diarrhea in pigs. Fecal samples (n=276) from piglets were collected on pig farms in the State of Rio Grande do Sul, Brazil, from May to September 2007. Litters with diarrhea were considered cases (n=129) and normal litters (n=147) controls. The samples were examined by latex agglutination test, PAGE, conventional isolating techniques, ELISA, PCR, and microscopic methods in order to detect rotavirus, bacterial pathogens (Escherichia coli, Clostridium perfringens type A and C, and Clostridium difficile), and parasites (Coccidian and Cryptosporidium spp.). Outbreaks of diarrhea were not observed during sampling. At least one agent was detected in fecal samples on 25 out of 28 farms (89.3%) and in 16 farms (57.1%) more than one agent was found. The main agents diagnosed were Coccidia (42.86%) and rotavirus (39.29%). The main agents identified in litters with diarrhea were Clostridium difficile (10.6%), Clostridium perfringens type A (8.8%) and rotavirus (7.5%); in control litters, Clostridium difficile (16.6%) and Coccidian (8.5%). Beta hemolytic Escherichia coli and Clostridium perfringens type C were not detected. When compared with controls, no agent was significantly associated with diarrhea in case litters. These findings stress the need for caution in the interpretation of laboratorial diagnosis of mild diarrhea in neonatal pigs, as the sole detection of an agent does not necessarily indicate that it is the cause of the problem.Um estudo de caso-controle em leitegadas de um a sete dias de idade foi realizado com o objetivo de identificar os principais agentes infecciosos envolvidos na diarreia neonatal de leitões. As amostras de fezes (n=276) foram coletadas em granjas de suínos no Estado do Rio Grande do Sul, Brasil, no período de maio a setembro de 2007. Leitegadas com diarreia foram consideradas casos (n=147) e leitegadas normais, controles (n=129). As amostras foram examinadas através do teste de aglutinação em látex, PAGE, cultivo, ELISA, PCR e métodos microscópicos para a excreção dos principais agentes de diarreia: virais (rotavirus), bacterianos (Escherichia coli, Clostridium perfringens tipos A e tipo C e Clostridium difficile) e parasitários (coccídeos e Cryptosporidium spp.). Durante o período do estudo não foram observados surtos e a diarréia, quando presente, apresentou-se leve. Pelo menos um agente foi identificado nas amostras fecais de 25 entre 28 granjas (89,3%) analisadas e em 16 granjas (57,1%) mais de um agente foi detectado. Os principais agentes encontrados nas granjas foram coccídeos (42,86%) e rotavírus (39,29%). Os principais agentes detectados nas leitegadas com diarreia foram Clostridium difficile (10,6%), Clostridium perfringens tipo A (8,8%) e rotavírus (7,5%). Por outro lado, nas leitegadas controle os agentes mais prevalentes foram Clostridium difficile (16,6%) e coccídeos (8,5%). E. coli Beta hemolítica e Clostridium perfringens tipo C não foram detectados. O presente estudo de caso-controle demonstrou que nenhum agente infeccioso esteve associado significativamente com diarreia (p>0.05). Esses achados reforçam a necessidade de que haja cuidado na interpretação de resultados de exames laboratoriais em materiais coletados de leitões com diarreia neonatal leve, pois a detecção isolada de um agente infeccioso não indica necessariamente que o mesmo seja a causa do problema