Browsing by Issue Date, starting with "2017-06"
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- Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric ManifestationsPublication . Duarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, SLately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Worsening of symptoms when the patient was treated with valproic acid, and plasma aminoacids showing an increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Mild dysmorphic features also suggested a possible 22q11 deletion syndrome that was confirmed. A mutation for Hyperprolinemia type I was also detected. Knowledge of the correct diagnosis was crucial for an adequate treatment.
- Acute Liver Failure: An Up-To-Date ApproachPublication . Cardoso, FS; Marcelino, P; Bagulho, L; Karvellas, CAcute liver failure is a rare but potentially devastating disease. Throughout the last few decades, acute liver failure outcomes have been improving in the context of the optimized overall management. This positive trend has been associated with the earlier recognition of this condition, the improvement of the intensive care unit management, and the developments in emergent liver transplantation. Accordingly, we aimed to review the current diagnostic and therapeutic approach to this syndrome, especially in the intensive care unit setting.
- Increased Risk for Metachronous Gastric Adenocarcinoma Following Gastric MALT Lymphoma-A US Population-Based StudyPublication . Palmela, C; Fonseca, C; Faria, R; Baptista, RB; Ribeiro, S; Ferreira, AOGastric mucosa-associated lymphoid tissue lymphoma (gMALT) and gastric adenocarcinoma (GC) are long-term complications of chronic Helicobacter pylori (HP) gastritis. Treatment of HP infection induces remission in most patients with gMALT. Endoscopic follow-up is not currently endorsed after complete remission. However, the risk of GC in these patients is unclear. OBJECTIVE: The objective of this study is to estimate GC risk in gMALT patients. METHODS: The National Cancer Institute Surveillance, Epidemiology and End Results 13 (SEER) database-Nov 2014 Sub (1992-2012) was used to identify adult patients diagnosed with gMALT between 1992 and 2012. The standardized incidence ratio of second primary GC after a latency period of 12 months was calculated and compared to a reference SEER cohort of identical age, sex and time period. The risk of GC in these patients was also stratified by latency period (five years) and age. RESULTS: We identified 2195 cases of gMALT lymphoma, and 20 (0.91%) of them subsequently developed GC with a relative risk (RR) of 4.32 (95% CI 2.64-6.67) compared to the American population. The median latency time was five years and the risk was maintained afterward (RR 4.92, 95% CI 2.45-8.79). When stratified by age group the risk was highest for the 45-64 group (RR 14.04, 95% CI 5.64-28.93). CONCLUSION: gMALT lymphoma is associated with an increased risk of metachronous gastric adenocarcinoma. The risk is still present after more than five years of follow-up. Further studies may clarify the most adequate follow-up strategy.
- Impact of Routine Fractional Flow Reserve on Management Decision and 1-Year Clinical Outcome of Patients With Acute Coronary Syndromes: PRIME-FFR (Insights From the POST-IT [Portuguese Study on the Evaluation of FFR-Guided Treatment of Coronary Disease] and R3F [French FFR Registry] Integrated Multicenter Registries - Implementation of FFR [Fractional Flow Reserve] in Routine Practice)Publication . Van Belle, E; Bravo Baptista, S; Raposo, L; Henderson, J; Rioufol, G; Santos, L; Pouillot, C; Ramos, R; Cuisset, T; Calé, R; Teiger, E; Jorge, E; Belle, L; Machado, C; Barreau, D; Costa, M; Hanssen, M; Oliveira, E; Besnard, C; Costa, J; Dallongeville, J; Pipa, J; Sideris, G; Fonseca, N; Bretelle, C; Guardado, J; Lhoest, N; Silva, B; Barnay, P; Sousa, MJ; Leborgne, L; Silva, JC; Vincent, F; Rodrigues, A; Seca, L; Fernandes, R; Dupouy, PBackground: Fractional flow reserve (FFR) is not firmly established as a guide to treatment in patients with acute coronary syndromes (ACS). Primary goals were to evaluate the impact of integrating FFR on management decisions and on clinical outcome of patients with ACS undergoing coronary angiography, as compared with patients with stable coronary artery disease. Methods and results: R3F (French FFR Registry) and POST-IT (Portuguese Study on the Evaluation of FFR-Guided Treatment of Coronary Disease), sharing a common design, were pooled as PRIME-FFR (Insights From the POST-IT and R3F Integrated Multicenter Registries - Implementation of FFR in Routine Practice). Investigators prospectively defined management strategy based on angiography before performing FFR. Final decision after FFR and 1-year clinical outcome were recorded. From 1983 patients, in whom FFR was prospectively used to guide treatment, 533 sustained ACS (excluding acute ST-segment-elevation myocardial infarction). In ACS, FFR was performed in 1.4 lesions per patient, mostly in left anterior descending (58%), with a mean percent stenosis of 58±12% and a mean FFR of 0.82±0.09. In patients with ACS, reclassification by FFR was high and similar to those with non-ACS (38% versus 39%; P=NS). The pattern of reclassification was different, however, with less patients with ACS reclassified from revascularization to medical treatment compared with those with non-ACS (P=0.01). In ACS, 1-year outcome of patients reclassified based on FFR (FFR against angiography) was as good as that of nonreclassified patients (FFR concordant with angiography), with no difference in major cardiovascular event (8.0% versus 11.6%; P=0.20) or symptoms (92.3% versus 94.8% angina free; P=0.25). Moreover, FFR-based deferral to medical treatment was as safe in patients with ACS as in patients with non-ACS (major cardiovascular event, 8.0% versus 8.5%; P=0.83; revascularization, 3.8% versus 5.9%; P=0.24; and freedom from angina, 93.6% versus 90.2%; P=0.35). These findings were confirmed in ACS explored at the culprit lesion. In patients (6%) in whom the information derived from FFR was disregarded, a dire outcome was observed. Conclusions: Routine integration of FFR into the decision-making process of ACS patients with obstructive coronary artery disease is associated with a high reclassification rate of treatment (38%). A management strategy guided by FFR, divergent from that suggested by angiography, including revascularization deferral, is safe in ACS.
- Pilot Study of Mobile Phone Technology in Allergic Rhinitis in European Countries: the MASK-Rhinitis StudyPublication . Bousquet, J; Caimmi, DP; Bedbrook, A; Bewick, M; Hellings, PW; Devillier, P; Arnavielhe, S; Bachert, C; Bergmann, KC; Canonica, GW; Chavannes, NH; Cruz, AA; Dahl, R; Demoly, P; De Vries, G; Mathieu-Dupas, E; Finkwagner, A; Fonseca, J; Guldemond, N; Haahtela, T; Hellqvist-Dahl, B; Just, J; Keil, T; Klimek, L; Kowalski, ML; Kuitunen, M; Kuna, P; Kvedariene, V; Laune, D; Pereira, AM; Carreiro-Martins, P; Melén, E; Morais-Almeida, M; Mullol, J; Muraro, A; Murray, R; Nogueira-Silva, L; Papadopoulos, NG; Passalacqua, G; Portejoie, F; Price, D; Ryan, D; Samolinski, B; Sheikh, A; Siroux, V; Spranger, O; Todo Bom, A; Tomazic, PV; Valero, A; Valovirta, E; Valiulis, A; VandenPlas, O; van der Meulen, S; van Eerd, M; Wickman, M; Zuberbier, TThe use of Apps running on smartphones and tablets profoundly affects medicine. The MASK-rhinitis (MACVIA-ARIA Sentinel NetworK for allergic rhinitis) App (Allergy Diary) assesses allergic rhinitis symptoms, disease control and impact on patients' lives. It is freely available in 20 countries (iOS and Android platforms). AIMS: To assess in a pilot study whether (i) Allergy Diary users were able to properly provide baseline characteristics (ii) simple phenotypic characteristics based upon data captured by the Allergy Diary could be identified and (iii) information gathered by this study could suggest novel research questions. METHODS: The Allergy Diary users were classified into six groups according to the baseline data that they entered into the App: (i) asymptomatic; (ii) nasal symptoms excluding rhinorrhea; (iii) rhinorrhea; (iv) rhinorrhea plus 1-2 nasal/ocular symptoms; (v) rhinorrhea plus ≥3 nasal/ocular symptoms; and (vi) rhinorrhea plus all nasal/ocular symptoms. RESULTS: By 1 June 2016, 3260 users had registered with the Allergy Diary and 2710 had completed the baseline questionnaire. Troublesome symptoms were found mainly in the users with the most symptoms. Around 50% of users with troublesome rhinitis and/or ocular symptoms suffered work impairment. Sleep was impaired by troublesome symptoms and nasal obstruction. CONCLUSIONS: This is the first App (iOS and Android) to have tested for allergic rhinitis and conjunctivitis. A simple questionnaire administered by cell phones enables the identification of phenotypic differences between a priori defined rhinitis groups. The results suggest novel concepts and research questions in allergic rhinitis that may not be identified using classical methods
- Successful Percutaneous Closure of a Residual Atrial Septal Defect Due to Device FailurePublication . Aguiar Rosa, S; Ferreira, F; de Sousa, L; Fiarresga, A; Martins, JD; Galrinho, A; Agapito, A; Fazendas, P; Pinto, MF; Cruz Ferreira, RA 39-year-old woman underwent uneventful percutaneous occlusion of an ostium secundum atrial septal defect (ASD) with a 22 mm Ultrasept ASD Occluder®. Transesophageal echocardiography (TEE) performed two years after implantation revealed a de novo residual left-to-right shunt through the correctly implanted device. Three-dimensional transesophageal echocardiography (3D TEE) further clarified this finding by showing a perforation of the device membrane coating. The patient underwent transcatheter closure of the residual shunt with a 20 mm Ultrasept PFO®device. The procedure was guided by fluoroscopy and real-time 3D TEE. At the end of the procedure 3D TEE documented correct device deployment with complete defect coverage and absence of residual shunt.
- Ovarian Hyperstimulation Syndrome As a Rare Cause of Acute Bilateral Limb and Renal IschemiaPublication . Quintas, A; Ferreira, ME; Bastos Gonçalves, F; Aragão de Morais, J; Albuquerque e Castro, J; Mota Capitao, LOvarian hyperstimulation syndrome (OHS) is a rare and potentially fatal condition, particularly when it is associated with arterial thromboembolic events. We present a case of acute ischemia of both lower limbs and left kidney due to OHS. The clinical presentation included voluminous ascites, pleural effusion, and significant ovarian enlargement. Subsequently, bilateral severe acute limb ischemia and left kidney segmental infarction were established. Surgical thromboembolectomy and muscle débridement of the lower limbs were necessary, and the patient recovered with partial limitations. A high index of suspicion and timely treatment are essential to minimize consequences of arterial thrombosis associated with OHS.
- A Dermatosis of PregnancyPublication . Brás, S; Oliveira, A; Mendes-Bastos, P; Amaro, C
- Predictors of Response to Cardiac Resynchronization Therapy: A Prospective Cohort StudyPublication . Abreu, A; Oliveira, MM; Cunha, PS; Santa Clara, H; Santos, V; Portugal, G; Rio, P; Soares, R; Branco, LM; Alves, M; Papoila, AL; Cruz Ferreira, R; Mota Carmo, MINTRODUCTION: Cardiac resynchronization therapy (CRT) has modified the prognosis of chronic heart failure (HF) with left ventricular systolic dysfunction. However, 30% of patients do not have a favorable response. The big question is how to determine predictors of response. AIMS: To identify baseline characteristics that might influence echocardiographic response to CRT. METHODS AND RESULTS: We performed a prospective single-center hospital-based cohort study of consecutive HF patients selected to CRT (NYHA class II-IV, left ventricular ejection fraction (LVEF) <35% and QRS complex ≥120 ms). Responders were defined as those with a ≥5% absolute increase in LVEF at six months. Clinical, electrocardiographic, laboratory, echocardiographic, autonomic, endothelial and cardiopulmonary function parameters were assessed before CRT device implantation. Logistic regression models were used. Seventy-nine patients were included, 54 male (68.4%), age 68.1 years (standard deviation 10.2), 19 with ischemic etiology (24%). At six months, 51 patients (64.6%) were considered responders. Although by univariate analysis baseline tricuspid annular plane systolic excursion (TAPSE) and serum creatinine were significantly different in responders, on multivariate analysis only TAPSE was independently associated with response, with higher values predicting a positive response to CRT (OR=1.13; 95% CI: 1.02-1.26; p=0.020). TAPSE ≥15 mm was strongly associated with response, and TAPSE <15 mm with non-response (p=0.005). Responders had no TAPSE values below 10 mm. CONCLUSION: From a range of clinical and technical baseline characteristics, multivariate analysis only identified TAPSE as an independent predictor of CRT response, with TAPSE <15 mm associated with non-response. This study highlights the importance of right ventricular dysfunction in CRT response.
- Validación de la “Subjective Happiness Scale” en Personas con Enfermedad Renal CrónicaPublication . Mota de Sousa, LM; Marques-Vieira, CM; Severino, S; Pozo-Rosado, JL; José, HMObjetivo: Verificar las propiedades psicométricas de la Subjective Happiness Scale (SHS), en personas con Enfermedad Renal Crónica (ERC), en hemodiálisis. Método: Estudio metodológico cuya muestra aleatoria estuvo constituida por 171 personas con ERC que realizan hemodiálisis en dos clínicas de la región de Lisboa (Portugal). Los datos se obtuvieron entre Mayo y Junio del 2015. Las propiedades psicométricas estudiadas fueron la validez (constructo, convergente, discriminante), la fiabilidad (consistencia interna (α de Cronbach)) y la estabilidad (Coeficiente de Correlación Intra-clase y de Correlación de Spearman-Brown). Resultados: Los resultados confirman la estructura uni-factorial, presentando una fiabilidad con α=0,90. La escala presenta una correlación positiva con la Escala de Satisfacción con la Vida (r=0,60; p<0,001), lo que sirve para certificar su validez de criterio. Conclusión: la versión portuguesa de la SHS es válida, fiable y reproducible en personas con ERC que realizan hemodiálisis.