Hemophilia A, characterized by deficiency of functional plasma clotting factor VIII, is an X-linked disorder. Signs and symptoms depend on factor VIII levels. Severe hemophilia A (factor levels less than 1%) is usually diagnosed in the first two years of life. Pediatric compartment syndrome is most associated with trauma, but infectious and vascular causes must also be considered. We report a case of a newborn ...
Purpose: To compare balloon occlusion prostatic artery embolization (bPAE) with conventional microcatheter PAE (cPAE). Materials and methods: In this single-center trial, between November 2017 and November 2018, 89 patients with symptomatic benign prostatic hyperplasia were randomly assigned to cPAE (n = 43) or bPAE (n = 46). All patients received embolization with 300-500 μm Embosphere microspheres and were ev...
BACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral cent...
Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal.
Purpose: To evaluate the relationship between mean apparent diffusion coefficient (ADC) and post-surgical Gleason scores. To determine the diagnostic accuracy of multiparametric magnetic resonance imaging (mp-MRI) on a 1.5 T magnet in distinguishing low, intermediate and highgrade prostate tumors. Material and methods: This is a retrospective institutional-review-board-approved, singlecenter study including 30 ...
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue wa...
Multiparametric Magnetic Resonance Imaging has been increasingly used for detection, localization and staging of prostate cancer over the last years. It combines high-resolution T2 Weighted-Imaging and at least two functional techniques, which include Dynamic Contrast–Enhanced Magnetic Resonance Imaging, Diffusion-Weighted Imaging, and Magnetic Resonance Imaging Spectroscopy. Although the combined use of a pelv...
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue wa...
Objectivos: A atresia do esófago está associada a uma variedade de malformações congénitas de outros órgãos. A persistência da veia cava superior esquerda e uma das malformações venosas torácicas mais comuns, ocorrendo em 0,3% da população. O objectivo deste estudo é caracterizar a persistência da veia cava superior esquerda nos doentes com atresia do esófago tratados no Hospital Dona Estefânia. Métodos: Estudo...