Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome

Inv21p12q22del21q22 and intellectual disability

Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalance in offspring. Less than 3% of Down syndrome patients have duplication as a result of parental pericentric inversion of chromosome 21. We report a family with an apparently balanced pericentric inversion of chromosome 21. The proband, a 23-year-old female was referred for prenatal diagnosis at 16weeks gestation because of increased nuchal translucency. She has a familial history of Down's syndrome and moderate intellectual disability, a personal history of four spontaneous abortions and learning difficulties. Peripheral blood and amniotic fluid samples were collected to perform proband's and fetus' cytogenetic analyses. Additionally, another six family members were evaluated and cytogenetic analysis was performed. Complementary FISH and MLPA studies were carried out. An apparent balanced chromosome 21 pericentric inversion was observed in four family members, two revealed a recombinant chromosome 21 with partial trisomy, and one a full trisomy 21 with an inverted chromosome 21. Array CGH analysis was performed in the mother and the brother's proband. MLPA and aCGH studies identified a deletion of about 1.7Mb on the long arm of inverted chromosome 21q22.11. We believe the cause of the intellectual disability/learning difficulties observed in the members with the inversion is related to this deletion. The recombinant chromosome 21 has a partial trisomy including the DSCR with no deletion. The risk for carriers of having a child with multiple malformations/intellectual disability is about 30% depending on whether and how this rearrangement interferes with meiosis

Combined tools for surgical case packages contents and cost optimization: a preliminary study

This paper presents a solution proposal based on mathematical and statistical tools to optimize Surgical Case Packages of an Operating Room (OR) in a Portuguese public hospital that it is the most complex environment in a hospital. In this particular hospital, more than 27000 surgeries/year are performed, employing, sometimes, misadjusted composition of standard surgical packages and non-optimized grouping of surgical instruments. Problem consequences are, among others, high transport of various surgical cases packages; high number of open cases and delays in surgical times following surgery. These type of problems are waste that do not add value to the service in the context of Lean Healthcare and must be eliminated using the most suitable tools. After the analysis, different tools were used: combinatorial analysis to optimize surgical cases composition and statistical analysis to identify the instruments usage and surgical basic case patterns. An optimization model was developed which produced a sterilizing initial solution of 135.24€. By identifying the most commonly employed instruments, it was concluded that some instruments have never been used and others rarely and some patterns were identified. The results achieved were based on minor sample and in a form of data collection that needs some adjustments.The authors want to acknowledge the Portuguese public hospital involved and to the ESGI initiative. The authors also would like to express their acknowledgments to national funds by COMPETE: POCI-01-0145-FEDER-007043 and FCT - Fundacao para a Ciencia e Tecnologia within the Project Scope: UID/CEC/00319/2013.info:eu-repo/semantics/publishedVersio

Estudo da microfracturação do maciço granítico de Castelo Branco através dos Planos de Inclusões Fluidas

The main objective of this study was to determine the geometry of the FIP, in the Castelo Branco granite massif. This study showed that in addition to FIP in Mode I, are also present Mode II, suggesting that the directions found NE-SW to NNE-SSW and E-W to ESE-WNW can be interpreted as related to a maximum stress (σ1) oriented NE-SW. The NNW-SSE orientation corresponds to a late syste

Alterações ecocardiográficas causadas pelo uso da romifidina em potros árabes

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Evolução geodinâmica da Faixa Ribeira (SE do Brasil) baseada no estudo de inclusões fluidas e na modelação da ƒO 2 Geodynamic evolution of Ribeira Fold Belt (SE Brazil) based on fluid inclusion studies and ƒO 2 modelling

SUMÁRIO A aplicação de diversas metodologias ao estudo das inclusões fluidas e da fugacidade do oxigénio permitiu a caracterização do percurso tardio dos granulitos da Faixa Ribeira. Após o pico metamórfico, uma rápida exumação das rochas a T ~ 450 ºC levou à formação de inclusões fluidas de CO 2 pouco densas, seguidas do influxo de água no sistema a P < 1 kbar, passando o sistema de oxidado para reduzido, o que provocou a precipitação de grafite em migmatitos. Palavras-chave: Faixa Ribeira; inclusões fluidas; fugacidade do oxigénio; evolução P-T-fluido SUMMARY Several procedures applied to fluid inclusion and oxygen fugacity studies allowed to characterize the late retrograde path of Ribeira Fold Belt. After metamorphic peak cooling, at about 450 ºC, a significant pressure drop occurred, leading to low-density CO 2 inclusion formation, followed by the influx of water at P < 1 kbar, which turned the system from highly oxidized to reduced and caused the precipitation of graphite in migmatites