68 documents found, page 1 of 7

Sinopse do diagnóstico molecular de patologias do desenvolvimento sexual no Dep...

Genética molecular das hemoglobinopatias no Departamento de Genética Humana do ...

Biocompatible 3D-printed tendon/ligament scaffolds based on polylactic acid/gra...

Three-dimensional (3D) printing technology has become a popular tool to produce complex structures. It has great potential in the regenerative medicine field to produce customizable and reproducible scaffolds with high control of dimensions and porosity. This study was focused on the investigation of new biocompatible and biodegradable 3D-printed scaffolds with suitable mechanical properties to assist tendon an...

Distribuição temporal e geográfica da leptospirose humana diagnosticada em indi...

Em Portugal, a leptospirose humana é considerada uma doença de declaração obrigatória (DDO). De acordo com o relatório DDO 2013- -2016, a área geográfica de intervenção da ARS Norte é a segunda área do país com maior número de casos notificados de leptospirose em humanos. O objetivo deste estudo foi analisar a distribuição temporal e geográfica dos casos de leptospirose humana identificados em indivíduos reside...

Molecular characterization of a new CYP21A2 allele and classification of its pa...

Background: The CYP21A2 gene, coding for 21-Hydroxylase (21-OH), is located on 6p21.3 within the major histocompatibility complex, and integrated in a cluster of genes (RP1, C4A, C4B, TNXB) and pseudogenes (RP2, CYP21A1P, TNXA). This genomic region is variable in size and gene copy number. Due to the high homology between genes and their pseudogenes, recombination is common, deletions, insertions and duplicatio...

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin...

Objectives: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin defi ciency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 w...

Hemocromatose hereditária associada ao gene HFE: resultados do diagnóstico mole...

A hemocromatose hereditária (HH) associada ao gene HFE, dado ser uma doença autossómica recessiva com penetrância incompleta, deve obedecer a uma estratégia de análise molecular que compreenda, em primeiro lugar, a pesquisa das alterações moleculares que ocorrem mais frequentemente no referido gene (p.H63D e p.C282Y). Deve dar-se prioridade à pesquisa da alteração p.C282Y já que esta, quando presente em homozig...

Ulcerated infantile hemangioma

Infantile hemangiomas are the most frequent vascular tumors in pediatric age. Diagnostic can be challenging due to variable clinical presentation and natural history. Most cases have a favorable evolution. Treatment may be required according to tumor location, extension, and complications. Propranolol is an effective and safe treatment. The case of an infant with perianal ulcerated hemangiomas treated with prop...

High-users of Pediatric Emergency Room Department: who, how and why

Introduction: The number of visits to emergency departments has increased over time, and Portugal has the higher number of admissions per capita. The aims were to characterize the high-user population of a level II hospital (≥10 admissions/year), identify the profile of the high-user and develop strategies to decrease the possible wrongful access. Methods: Retrospective, case-control study. Children under 18 ye...

Uso apropriado da ecocardiografia transtorácica