Araujo C.,University of Porto |
Araujo C.,Centro Hospitalar Of Entre Douro E Vouga |
Azevedo A.,University of Porto |
Damasceno A.,University of Porto |
And 2 more authors.
Arquivos de Medicina | Year: 2011
Tobacco smoking is the single most important determinant of avoidable morbidity and mortality worldwide. In Sub-Saharan Africa smoking of manufactured cigarettes tends to be more frequent among urban dwellers while subjects living in rural areas are more often consumers of smokeless tobacco and hand-rolled cigarettes. The rural-to-urban migration is an important demographic phenomenon in Sub-Saharan Africa, and this shift will contribute to a faster transition through the stages of the tobacco epidemic than has been observed in higher-income countries. The widespread diffusion of cigarette smoking in developing settings will expectedly exacerbate worldwide health disparities between nations. The understanding of the patterns and dynamics of tobacco consumption in Sub-Saharan Africa is essential to develop and monitor locale-specific control strategies.
Pinto P.,Portuguese Oncology Institute |
Rocha P.,Portuguese Oncology Institute |
Veiga I.,Portuguese Oncology Institute |
Guedes J.,Portuguese Oncology Institute |
And 13 more authors.
Cancer Genetics | Year: 2011
Cetuximab and panitumumab are two monoclonal antibodies targeting the epidermal growth factor receptor that have been approved for treatment of metastatic colorectal cancer. Recent clinical trials found an association between KRAS mutation status and resistance to anti-epidermal growth factor receptor therapy, leading to the recommendation to perform KRAS mutation analysis before cetuximab or panitumumab treatment. This study was designed to compare and evaluate the efficacy of four different methodologies-high resolution melting, Sanger sequencing, DxS kit, and SNaPshot-for KRAS mutation detection in a clinical setting. In total, 372 samples from patients with metastatic colorectal cancer were analyzed by high resolution melting and SNaPshot, with 184 of those being further analyzed by Sanger sequencing and 188 with the DxS kit. Sensitivities were compared after consensus findings were determined by the presence of the same result in two of the three methodologies used in each case. The frequency of KRAS codon 12 and 13 mutations in our population was 43.5%, and a discordant finding was observed in 22 samples. Comparing to Sanger sequencing, significantly more consensus mutations were detected by the DxS kit (P = 0.0139), high resolution melting (P = 0.0004), and SNaPshot (P = 0.00001), but no statistically significant differences were found among the three methodologies with higher sensitivity. © 2011 Elsevier Inc.
Barros J.,Abel Salazar Biomedical Sciences Institute |
Damasio J.,Abel Salazar Biomedical Sciences Institute |
Tuna A.,Abel Salazar Biomedical Sciences Institute |
Alves I.,Centro Hospitalar Of Entre Douro E Vouga |
And 10 more authors.
JAMA Neurology | Year: 2013
Objective: To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene. Design: Observational 12-year follow-up study. Setting: Community and hospital care. Patients: Sixteen patients in a 4-generation family were identified in 1998 in a population-based survey. The follow-up revealed 28 patients (25 of whom were observed) and 32 unaffected relatives with an a priori risk of 50%. Results: Four major phenotypes (migraine with multiple auras, transient focal neurological deficits without headache, coma triggered by minor head trauma, and slowly progressive cerebellar ataxia) were present in various combinations. The initial manifestation was ataxia in 16 patients and a transient episode in 12 patients. Eighteen patients did not have migraine, and 11 showed only ataxia. The c.1748 (p.R583Q) mutation in CACNA1A was confirmed in all 23 of the patients who were tested but was not found in any of the 27 adult relatives. The CACNA1A CAG repeat expansion was excluded. Conclusions: A unique missense mutation in the CACNA1A gene, which exhibits a very high penetrance and expressivity, may present a phenotypic spectrum that is broader than current descriptions. Single-gene disorders can behave as complex traits, which reinforces the importance of genetic modifiers in the tightly regulated function of P/Q-type calcium channels. The clinical spectrum of missense mutation CACNA1A-related disorders is much broader than strictly familial hemiplegic migraine. © 2013 American Medical Association. All rights reserved.
Frias Vilaca A.,Fernando Pessoa University |
Frias Vilaca A.,Centro Hospitalar Of Entre Douro E Vouga |
Reis A.M.,Centro Hospitalar Of Entre Douro E Vouga |
Vidal I.M.,Centro Hospitalar Of Entre Douro E Vouga
Insights into Imaging | Year: 2013
Air/gas outside the aero-digestive tract is abnormal; depending on its location, it is usually called emphysema, referring to trapped air/gas in tissues, or ectopic air/gas. It can be associated to a wide range of disorders, and although it usually is an innocuous condition, it should prompt a search for the underlying aetiology, since some of its causes impose an urgent treatment. In rare instances, it may itself represent a life-threatening condition, depending on the site involved and how quickly it evolves. Abnormal air/gas beyond viscera and serosal spaces, reaches its location following some anatomic boundaries, such as fascia, which may help search the source; however if the air pressure exceeds the strength of the tissues, or the time between the aggression and the imaging is too long, the air/gas is almost everywhere, which may hinder its cause. Good knowledge of the anatomic spaces and how they connect between them facilitates the quick detection of the cause. Teaching points • Ectopic air can be depicted on conventional radiographs; but CT is more sensitive and accurate • Visceral and retropharyngeal spaces directly communicate with mediastinum • Renal fascia is a single multilaminated structure, which contains potential space © 2013 The Author(s).
Vilaca A.F.,Centro Hospitalar Of Entre Douro E Vouga |
Rodrigues P.,Centro Hospitalar Of Entre Douro E Vouga |
Scigliano H.,Laboratorio de Anatomia Patologica Dr. Albino Oliveira Lda |
Pinto J.,Centro Hospitalar Of Entre Douro E Vouga |
Reis A.,Centro Hospitalar Of Entre Douro E Vouga
Journal of Radiology Case Reports | Year: 2011
Solid Pseudopapillary Tumor of the pancreas is a rare nonfunctioning tumor. It is considered a low-grade malignancy that is apparently curable with surgical complete excision in most instances. We present a case of solid pseudopapillary pancreatic tumor that represented a challenge to the radiologists. This case highlights its possible various appearances and the need to the radiologist to be familiar with them.