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Diagnóstico e benefícios para a comunidade na doença genética: contributo da ci...

Clinical, cytogenetic and molecular findings of a “de novo” inv dup del (6q)

Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal deletion (inv dup del) were first reported for the short arm of chromosome 8 in1976. Since then this type of structural anomaly has been described for an increasing number of chromosomes. In these rearrangements, the concomitant presence of a deletion and a duplication has important consequences in genotype-phenotyp...

Hypomelanosis of Ito vs Pigmentary Mosaicism: a challenging diagnosis

Introdution: Since 1952 several case reports and case series of Hypomelanosis of Ito (HI) has described different associations with multiple extra cutaneous manifestations, being the neurological anomalies the most frequent and important ones. Methods: We report a 5-years-old girl, refered by dyschromia , minor dysmorphic features, strabism, ventricular septal heart defect and slight learning difficulties. T...

Interstitial deletion 15q21 and Prader-Willi like syndrome phenotype: Case report

Introduction: Chromosome 15q interstitial deletions not involving the Prader-Willi/Angelman region are uncommon and poorly characterized. Very few cases of different segmental losses involving the 15q21 region have been reported at cytogenetic level. All the described patients present with moderate to several mental retardation and characteristic facial dysmorphic features. Some authors compare the similarity b...

Accumulation of Non-Superoxide Anion Reactive Oxygen Species Mediates Nitrogen-...

Caracterização do Serviço de Urgência do Hospital Espírito Santo de Évora.

Este artigo resulta da realização de um estudo baseado em dados provenientes do Hospital Espírito Santo de Évora (HESE-EPE). O estudo visou essencialmente o Serviço de Urgências (SU) deste Hospital, tendo como principal objectivo descrever a sua evolução, bem como o seu funcionamento. Procurou-se explorar alguns aspectos importantes para a avaliação da qualidade do serviço, assim como da satisfação dos utentes....

Formações jurássicas da região de Albufeira: estratigrafia, consequências carto...

The geological survey of Albufeira map area envolved the execution of several logs on Jurassic formations. The study of amonoid forms allowed the interpretation and the establishement of correlations on the Upper Jurassic series and the definition of the regional stratigraphic sequence. Based on this fauna, recalled for the first time in this region, the marly and marly-limestone units of the lower part of the ...

O Caloviano do flanco norte do Guilhim (Algarve oriental): biostratigrafia e pa...

Stratigraphical study of Telheiro and Cancela sections (northern slope of Guilhim hill) allowed its dating: these may be reported to the Lower Callovian, as ammonite associations typical of Rehmanni and Pictava horizons have been collected there. Hence Gracilis zone can be recognized in Algarve. Ammonites are also associated to Dinoflagellates. These microfossils have been found for the first time in the Callov...

Estratigrafia do Caloviano do Algarve oriental

The comparative study of the Callovian sections in eastern Algarve allowed us to demonstrate that the discontinuity surface at the base of Malm lies always over the Lower-Callovian, as opposite to what happens in western Algarve; the Bathonian-Callovian transition, continuous in western Algarve (Mareta beach) is marked, in eastern Algarve, by a generalised discontinuity of variable vertical extention. It is ver...

Evolução paleogeográfica e paleobiogeográfica do Caloviano-Kimeridgiano do Algarve

The littoral and the «barrocal» of the Algarve correspond in part to a meso-cenozoic sedimentary basin with a deeping south monocline structure, cut by North-South faults and by two East-West longitudinal flexures. The lithostratigraphic and chronostratigraphic study of the Jurassic formations, undertaken during the last years, allow a better knowledge of the paleogeographic and paleobiogeographic evolution of ...