Browsing by Author "Pinto, A."
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- Avaliação da hiperalgesia em relação com a administração peri-operatória de opióidesPublication . Brás, A.; Carvalho, A.; Carvalho, C.; Carvalho, M.; Dias, J.; Duarte, A.; Mendes, D.; Mendes, T.; Mesquita, M.; Pinto, A.; Santos, A.; Alves, S.; Amorim, P.
- Buschke-Lowenstein TumorPublication . Pinto, A.; Guedes-Martins, L.; Marques, C.; Cabral, J.Introduction: Giant condyloma acuminatum belongs to a spectrum of diseases with malignant degeneration. Clinically, it presents as exophytic, fungating masses, sometimes with a cauliflower-like morphology. Case presentation: We present a case of a 32-year-old female patient with a 180x95x80mm exophytic mass of the vulvar region suggestive of Buschke-Lowenstein Tumour. Treatment included wide local excision with electrosurgery and CO2 vaporization of recurrent focal lesions. Histopathological analysis confirmed the expected diagnosis. Surgery went without complications and the patient is lesion-free at the 12th month of follow-up. Conclusion: There is a lack of consistent trials regarding optimal treatment of BLT. Surgery, when feasible, remains the mainstay of treatment. It allows quick lesion size reduction, with fewer side effects and more rapid return to daily living activities, when compared to other treatment options.
- Hemangioma of the Internal Auditory Canal and PHACES Syndrome: A Rare Finding in a Rare SyndromePublication . Santos, Mariline; Mendes, G.; Pinto, A.; Coutinho, Mi.; Sousa, C.
- International practices in the dietary management of fructose 1-6 biphosphatase deficiencyPublication . Pinto, A.; Alfadhel, M.; Akroyd, R.; Atik Altınok, Y.; Bernabei, S.; Bernstein, L.; Bruni, G.; Caine, G.; Cameron, E.; Carruthers, R.; Cochrane, B.; Daly, A.; de Boer, F.; Delaunay, S.; Dianin, A.; Dixon, M.; Drogari, E.; Dubois, S.; Evans, S.; Gribben, J.; Gugelmo, G.; Heidenborg, C.; Hunjan, I.; Kok, I.; Kumru, B.; Liguori, A.; Mayr, D.; Megdad, E.; Meyer, U.; Oliveira, R.; Pal, A.; Pozzoli, A.; Pretese, R.; Rocha, J.; Rosenbaum-Fabian, S.; Serrano-Nieto, J.; Sjoqvist, E.; Timmer, C.; White, L.; van den Hurk, T.; van Rijn, M.; Zweers, H.; Ziadlou, M.; MacDonald, A.Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency. Methods: A cross-sectional questionnaire (13 questions) was emailed to all members of the Society for the Study of Inborn Errors of Metabolism (SSIEM) and a wide database of inherited metabolic disorder dietitians. Results: Thirty-six centres reported the dietary prescriptions of 126 patients with FBPase deficiency. Patients' age at questionnaire completion was: 1-10y, 46% (n = 58), 11-16y, 21% (n = 27), and >16y, 33% (n = 41). Diagnostic age was: <1y, 36% (n = 46); 1-10y, 59% (n = 74); 11-16y, 3% (n = 4); and >16y, 2% (n = 2). Seventy-five per cent of centres advocated dietary restrictions. This included restriction of: high sucrose foods only (n = 7 centres, 19%); fruit and sugary foods (n = 4, 11%); fruit, vegetables and sugary foods (n = 13, 36%). Twenty-five per cent of centres (n = 9), advised no dietary restrictions when patients were well. A higher percentage of patients aged >16y rather than ≤16y were prescribed dietary restrictions: patients aged 1-10y, 67% (n = 39/58), 11-16y, 63% (n = 17/27) and >16y, 85% (n = 35/41). Patients classified as having a normal fasting tolerance increased with age from 30% in 1-10y, to 36% in 11-16y, and 58% in >16y, but it was unclear if fasting tolerance was biochemically proven. Twenty centres (56%) routinely prescribed uncooked cornstarch (UCCS) to limit overnight fasting in 47 patients regardless of their actual fasting tolerance (37%). All centres advocated an emergency regimen mainly based on glucose polymer for illness management. Conclusions: Although all patients were prescribed an emergency regimen for illness, use of sucrose and fructose restricted diets with UCCS supplementation varied widely. Restrictions did not relax with age. International guidelines are necessary to help direct future dietary management of FBPase deficiency.
- The Use of Glycomacropeptide in Patients with Phenylketonuria: A Systematic Review and Meta-AnalysisPublication . Pena, M.; Pinto, A.; Daly, A.; MacDonald, A.; Azevedo, L.; Rocha, J.; Borges, N.In phenylketonuria (PKU), synthetic protein derived from L-amino acids (AAs) is essential in a low-phenylalanine (Phe) diet. Glycomacropeptide (GMP), an intact protein, is very low in Phe in its native form. It has been modified and adapted for PKU to provide an alternative protein source through supplementation with rate-limiting amino acids (GMP-AAs), although it still contains residual Phe. This review aims to systematically evaluate published intervention studies on the use of GMP-AAs in PKU by considering its impact on blood Phe control (primary aim) and changes in tyrosine control, nutritional biomarkers, and patient acceptability or palatability (secondary aims). Four electronic databases were searched for articles published from 2007 to June 2018. Of the 274 studies identified, only eight were included. Bias risk was assessed and a quality appraisal of the body of evidence was completed. A meta-analysis was performed with two studies with adequate comparable methodology which showed no differences between GMP-AAs and AAs for any of the interventions analysed. This work underlines the scarcity and nature of studies with GMP-AAs interventions. All were short-term with small sample sizes. There is a need for better-designed studies to provide the best evidence-based recommendations.
- [Translation and Validation of the FOUR Scale for Children and its Use as Outcome Predictor: A Pilot Study]Publication . Ferreira, S.; Meireles, D.; Pinto, A.; Abecasis, F.INTRODUCTION: The Full Outline of UnResponsiveness - FOUR scale has been previously validated to assess impaired consciousness in the adult population. The aim of this study is the translation into Portuguese and validation of the FOUR scale in the pediatric population. The study also compares the FOUR scale and Glasgow coma scale score ratings and the clinical outcome of patients hospitalized in Pediatric Intensive Care Units. MATERIAL AND METHODS: This study prospectively rated patients admitted to the Pediatric Intensive Care Units with impaired consciousness during one year. Both scales were applied daily to patients by three types of examiners: intensivists, residents and nurses, from the moment of admission until clinical discharge. Neurological sequelae was evaluated using the King's Outcome Scale for Childhood Head Injury - KOSCHI. RESULTS: Twenty seven patients between one and 17 years of age were included. Both scales are reliable and inter-rater reliability was greater for the FOUR score. Glasgow coma scale showed a minimum score in eight evaluations, whereas the FOUR scale obtained the minimum score in only two of these evaluations. In both scales there was a strong association between the admission score and the patient's outcome (area under curve FOUR = 0.939, versus Glasgow coma scale = 0.925). DISCUSSION: The FOUR scale provides more neurological information than Glasgow coma scale in patients with impaired consciousness and has prognostic interest. CONCLUSION: The FOUR scale can be applied in patients admitted with impaired consciousness in Pediatric Intensive Care Units. We think that a multicenter study would be very beneficial for confirming and generalizing these results.
- Treat to target: temporomandibular joint (TMJ) arthritis in children with juvenile idiopathic arthritis (JIA) – experience of Centro Hospitalar do PortoPublication . Nascimento, J.; Zilhão, C.; Pinto, A.; Miranda, C.; Monteiro, C.; Guedes, M.
- Tuberculose e cancro – pior que um só dois!Publication . Couto, C.; Balona, F.; Sampaio, M.J.; Torres, A.; Pinto, A.; Ferreira, A.RESUMO Introdução: A tuberculose é um problema de saúde global e crescente. A doença pulmonar primária é a forma mais comum de apresentação da tuberculose activa. A tuberculose esquelética é pouco comum e representa 10 a 20% das formas extrapulmonares no doente imunocompetente. Quando existe imunossupressão, esta forma é mais frequente podendo estar presente, de modo isolado ou em associação com tuberculose pulmonar, em quase metade dos casos. A sua apresentação clínica é inespecífi ca e o diagnóstico diferencial inclui diversas patologias, sendo essencial um elevado índice de suspeição. Caso clínico: Os autores apresentam o caso clínico de uma criança com tumor de Wilms, em tratamento com quimioterapia, que desenvolveu tuberculose óssea. Discussão: Salienta-se a importância do diagnóstico diferencial da tuberculose com doença oncológica (primária ou secundária), a limitação dos métodos imagiológicos, a importância da confirmação diagnóstica através de estudos histopatológicos e microbiológicos, e a necessidade de um plano terapêutico adequado e o mais precoce possível. ABSTRACT Introduction: Tuberculosis is a global and growing health problem. Primary pulmonary disease is the most common form of presentation of active tuberculosis. The skeletal tuberculosis is uncommon and represents 10 to 20% of extrapulmonary disease in immunocompetent individuals. In immunosupressed patients, bone involvement is more common, either singly or in association with pulmonary tuberculosis, reaching half of the cases. Its clinical presentation is nonspecific and the differential diagnosis includes several pathologies, therefore a high index of suspicion is required. Case report: The authors report the clinical case of a child with Wilms’ tumor who was diagnosed with bone tuberculosis during the treatment of nephroblastoma. Discussion: It is emphasized the importance of differential diagnosis of tuberculosis with malignancy (primary or secondary), the limitation of imaging methods, the importance of diagnostic confi rmation by histopathological and microbiological studies, and the need for an appropriate treatment plan and as early as possible.
- Tumor de Wilms e Tuberculose: Diagnósticos diferenciais num caso de apresentação simultâneaPublication . Sucesso, M.B.; Ferreira, A.; Maia, I.; Pinto, A.; Estevinho, N.; Norton, L.RESUMO O Tumor de Wilms é o tumor renal mais frequente na criança. A terapêutica actual, que inclui quimioterapia, cirurgia e radioterapia, é o resultado da colaboração multidisciplinar entre grupos internacionais. As taxas de cura actuais atingem os 90%. O correcto estadiamento tem implicações terapêuticas e prognósticas, sendo o local de metastisação à distância mais frequente o pulmão. Dada a elevada prevalência da tuberculose pulmonar no nosso país, este é um diagnóstico diferencial a equacionar na presença de consolidação pulmonar, mesmo na criança com doença oncológica. Os autores apresentam um caso clínico de uma criança de 4 anos de idade, com diagnóstico de nefroblastoma e hipodensidade pulmonar. O estudo complementar levou ao diagnóstico de tuberculose pulmonar. Abordam-se as dificuldades de diagnóstico e planeamento terapêutico.
- WNT6 is a novel oncogenic prognostic biomarker in human glioblastomaPublication . Gonçalves, C.; Vieira de Castro, J.; Pojo, M.; Martins, E.; Queirós, S.; Chautard, E.; Taipa, Ricardo; Pires, M.; Pinto, A.; Pardal, F.; Custódia, C.; Faria, C.; Clara, C.; Reis, R.; Sousa, N.; Costa, B.Glioblastoma (GBM) is a universally fatal brain cancer, for which novel therapies targeting specific underlying oncogenic events are urgently needed. While the WNT pathway has been shown to be frequently activated in GBM, constituting a potential therapeutic target, the relevance of WNT6, an activator of this pathway, remains unknown. Methods: WNT6 protein and mRNA levels were evaluated in GBM. WNT6 levels were silenced or overexpressed in GBM cells to assess functional effects in vitro and in vivo. Phospho-kinase arrays and TCF/LEF reporter assays were used to identify WNT6-signaling pathways, and significant associations with stem cell features and cancer-related pathways were validated in patients. Survival analyses were performed with Cox regression and Log-rank tests. Meta-analyses were used to calculate the estimated pooled effect. Results: We show that WNT6 is significantly overexpressed in GBMs, as compared to lower-grade gliomas and normal brain, at mRNA and protein levels. Functionally, WNT6 increases typical oncogenic activities in GBM cells, including viability, proliferation, glioma stem cell capacity, invasion, migration, and resistance to temozolomide chemotherapy. Concordantly, in in vivo orthotopic GBM mice models, using both overexpressing and silencing models, WNT6 expression was associated with shorter overall survival, and increased features of tumor aggressiveness. Mechanistically, WNT6 contributes to activate typical oncogenic pathways, including Src and STAT, which intertwined with the WNT pathway may be critical effectors of WNT6-associated aggressiveness in GBM. Clinically, we establish WNT6 as an independent prognostic biomarker of shorter survival in GBM patients from several independent cohorts. Conclusion: Our findings establish WNT6 as a novel oncogene in GBM, opening opportunities to develop more rational therapies to treat this highly aggressive tumor.