Centro Hospitalar do Porto
Repositório Científico da Unidade Local de Saúde de Santo AntónioNot a member yet
2440 research outputs found
Sort by
Perianal Paget Disease: Different Entities With the Same Name
Get PDFExtramammary Paget disease (EMPD) is a rare form of cancer that involves skin areas rich in apocrine glands. The common sites of occurrence include the vulva, perianal region, perineum, and axilla. Perianal Paget disease (PPD) is a subset of EMPD, which arises in the perianal skin. The disease commonly presents with a thickened plaque-like lesion with erythema or white scaly appearance. It is generally classified into two categories based on the origin of the tumor cells: (1) primary PPD if the tumor arises from intraepidermal cells and (2) secondary PPD if cancer originates from the underlying colorectal or urinary tract neoplasm. Due to its rarity, only a few sporadic case reports have been published in the literature, and treatment methods are yet to be standardized. In light of this, we report two PPD cases with different etiopathogenesis and staging: one involved only the perianal skin without regional or metastatic disease, and was not accompanied by visceral adenocarcinomas although there was a previous history of sigmoid adenocarcinoma; the other was probably secondary to an anal canal tumor spreading with disseminated disease involving the perianal and perineum area with bilateral inguinal, pelvic lymph node, and liver metastasis. The treatment plans and the outcomes of both cases were necessarily different from each other.info:eu-repo/semantics/publishedVersio
Pretreatment Blood Markers in the Prediction of Occult Neck Metastasis: A 10-Year Retrospective Study
Get PDFIntroduction The purpose of this study was to clarify the role of inflammatory blood markers in the management of early-stage (T1-T2) oral squamous cell carcinoma (OSCC) of the tongue in patients with a clinically negative neck. Materials and methods We undertook a retrospective chart review of 102 patients with early-stage OSCC of the tongue, subjected to tumor resection and elective neck dissection. Based on postsurgical histopathological examination results, we divided our cohort into pN+ and pN0 groups. Afterwards, we analyzed the role of pretreatment inflammatory blood markers in predicting occult neck metastasis. We also evaluated neutrophil-lymphocyte ratio (NLR) association with the depth of invasion (DOI) of the primary tumor. Results We found a significant association of NLR (p=0.001) and monocyte-lymphocyte ratio (p=0.011) with neck status on univariate analysis. Multivariate analysis showed that only NLR (p=0.02) was an independent risk factor for occult metastasis among inflammatory blood markers. Receiver Operating Characteristic curve analysis and Younden's Index determined the NLR value of 2.96 as the most adequate cut-off value for neck status prediction. NLR values of pretreatment workup also had a significant association with the DOI of the primary tumor (p=0.018). Conclusion Our study supports the role of pretreatment NLR in predicting occult neck metastasis in early-stage OSCC of the tongue. It also sheds some light over the potential of NLR as a predictor of the primary tumor's DOI.info:eu-repo/semantics/publishedVersio
Severe ocular involvement in hereditary gelsolin amyloidosis
Get PDFHereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.info:eu-repo/semantics/publishedVersio
Female preponderance in genetic generalized epilepsies
Get PDFIntroduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS).
Methods: We performed a prospective observational study including adult GGE and MTLEHS patients followed up at a tertiary epilepsy center from January 2016 to December 2019. Patients' familial history was obtained by a detailed questionnaire. Clinical and demographic data was retrieved from clinical notes.
Results: A cohort of 641 patients, 403 with GGE and 238 with MTLEHS, was analyzed. GGE was more common in women than MTLEHS (58.8% vs 44.5%, OR=1.63, p = 0.004). Compared to MTLEHS patients, more GGE patients had familial history of epilepsy (45.4% vs 25.2%; p<0.001). The GGE group had a higher percentage of female relatives with epilepsy (55% vs 37%; p = 0.006). The prevalence of maternal inheritance was not different between GGE and MTLEHS groups (62.9% vs 57.7%; p = 0.596). Photosensitivity was more common in females than in males (44.7% vs 34.3%, p = 0.036).
Conclusion: There is a female preponderance in GGE when compared to MTLEHS, as both GGE patients and their affected relatives are more frequently women. The prevalence of maternal inheritance was not higher in GGE than in MTLEHS.info:eu-repo/semantics/publishedVersio
Extensive skin necrosis after periprosthetic knee infection: a case that highlights the possibility of complications induced by low-molecular-weight heparin
Get PDFWe describe a case of a patient with atrial fibrillation, anticoagulated with dabigatran, that developed severe knee skin necrosis in the setting of an acute periprosthetic knee infection, after initiating low-molecular-weight heparin. A wide range of etiology hypotheses was discussed within a multidisciplinary team. The complex approach consisted of treating the underlying infection, multiple types of soft-tissue management, and stopping enoxaparin.info:eu-repo/semantics/publishedVersio
Neurocognitive evaluation using the International HIV Dementia Scale (IHDS) and Montreal Cognitive Assessment Test (MoCA) in an HIV‐2 population
Get PDFObjectives: We aimed to characterize neurocognitive impairment (NI) in an HIV-2 population using an observational cross-sectional study in four Portuguese hospitals.
Methods: Adult HIV-2-infected patients were included. Montreal Cognitive Assessment Test (MoCA) and International HIV Dementia Scale (IHDS) scales were applied for screening of NI. Patient Health Questionnaire-9 (PHQ-9) and Instrumental Activities of Daily Living (IADL) scales were used for assessment of depression and functionality. A multivariate analysis was performed to assess for risk factors for NI.
Results: Eighty-one patients were included, 50.6% of African origin (n = 41) and 49.4% of Portuguese origin (n = 40). The MoCA scale showed alterations in 81.5% of patients (100% of migrants vs. 62.5% of non-migrants, P < 0.001) and the IHDS scale showed alterations in 42%. Both scales were altered simultaneously in 35.8%. Variables independently associated with NI were age [odds ratio (OR) = 0.885] and migrant status (OR = 9.150).
Conclusions: Neurocognitive impairment (both scales altered) was present in 35.8%, which is comparable to what is described for HIV-1. The MoCA performed worse in the migrant population and might not be applicable in this setting.info:eu-repo/semantics/publishedVersio
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective
Get PDFBackground: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15-43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters.
Results: CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027).
Conclusions: Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.info:eu-repo/semantics/publishedVersio
Treatable Traits in COPD – A Proposed Approach
Get PDFThe well-recognized individual heterogeneity within COPD patients has led to a growing interest in greater personalization in the approach of these patients. Thus, the treatable traits strategy has been proposed as a further step towards precision medicine in the management of chronic airway disease, both in stable phase and acute exacerbations. The aim of this paper is to perform a critical review on the treatable traits strategy and propose a guide to approach COPD patients in the light of this new concept. An innovative stepwise approach is proposed - a multidisciplinary model based on two distinct phases, with the potential to be implemented in both primary care and hospital settings. The first phase is the initial and focused assessment of a selected subset of treatable traits, which should be addressed in all COPD patients in both settings (primary care and hospital). As some patients may present with advanced disease at diagnosis or may progress despite this initial treatment requiring a more specialized assessment, they should progress to a second phase, in which a broader approach is recommended. Beyond stable COPD, we explore how the treatable traits strategy may be applied to reduce the risk of future exacerbations and improve the management of COPD exacerbations. Since many treatable traits have already been related to exacerbation risk, the strategy proposed here represents an opportunity to be proactive. Although it still lacks prospective validation, we believe this is the way forward for the future of the COPD approach.This article was funded by Bial. Bial provided all necessary scientific bibliography and funded medical writing support and publishing charges. The authors did not receive direct funding for the writing of this articleinfo:eu-repo/semantics/publishedVersio
Systematic Review of Intrapartum Fetal Heart Rate Spectral Analysis and an Application in the Detection of Fetal Acidemia
Get PDFIt is fundamental to diagnose fetal acidemia as early as possible, allowing adequate obstetrical interventions to prevent brain damage or perinatal death. The visual analysis of cardiotocography traces has been complemented by computerized methods in order to overcome some of its limitations in the screening of fetal hypoxia/acidemia. Spectral analysis has been proposed by several studies exploring fetal heart rate recordings while referring to a great variety of frequency bands for integrating the power spectrum. In this paper, the main goal was to systematically review the spectral bands reported in intrapartum fetal heart rate studies and to evaluate their performance in detecting fetal acidemia/hypoxia. A total of 176 articles were reviewed, from MEDLINE, and 26 were included for the extraction of frequency bands and other relevant methodological information. An open-access fetal heart rate database was used, with recordings of the last half an hour of labor of 246 fetuses. Four different umbilical artery pH cutoffs were considered for fetuses' classification into acidemic or non-acidemic: 7.05, 7.10, 7.15, and 7.20. The area under the receiver operating characteristic curve (AUROC) was used to quantify the frequency bands' ability to distinguish acidemic fetuses. Bands referring to low frequencies, mainly associated with neural sympathetic activity, were the best at detecting acidemic fetuses, with the more severe definition (pH ≤ 7.05) attaining the highest values for the AUROC. This study shows that the power spectrum analysis of the fetal heart rate is a simple and powerful tool that may become an adjunctive method to CTG, helping healthcare professionals to accurately identify fetuses at risk of intrapartum hypoxia and to implement timely obstetrical interventions to reduce the incidence of related adverse perinatal outcomes.This article was supported by National Funds through FCT - Fundação para a Ciência e a Tecnologia, I.P., within CINTESIS, R&D Unit (reference UIDB/4255/2020).info:eu-repo/semantics/publishedVersio
