Resumo Introdução: A rabdomiólise é uma síndroma com várias etiologias. O médico de família (MF) pode contribuir para a sua investigação e para a articulação dos cuidados de saúde (CS) neste quadro, sendo fundamental uma boa acessibilidade aos CS e o acesso a meios complementares de diagnóstico (MCDT). Descrição do caso: Utente do sexo feminino, 50 anos, com antecedentes de hipertensão arterial e hipertiroidismo tratado com iodo radioativo. Em 2019 recorre três vezes à consulta aberta num espaço de dois meses, por ausência da sua MF. Queixava-se de mialgias generalizadas, não tendo sido feita investigação complementar. A 11 de junho de 2019 dirige-se por sua iniciativa ao serviço de urgência (SU) por anasarca, toracalgia e dispneia, sendo diagnosticada rabdomiólise com indicação para estudo pelo MF. É observada pelo MF a 26 de junho, que pede análises e ecocardiograma, sendo diagnosticado hipotiroidismo iatrogénico por terapia com iodo radioativo. No mesmo dia é feita articulação telefónica com a endocrinologia e suplementação com levotiroxina. Na consulta com a MF, a 17 de julho, mantinha anasarca, dispneia e fervores bibasais na auscultação pulmonar. Por suspeita de insuficiência cardíaca descompensada e impossibilidade de realizar doseamento de NT-Pro-BNP foi encaminhada para o SU após contacto telefónico. Lá fizeram o seu doseamento, que era normal, excluindo-se esta patologia. A utente manteve-se medicada com levotiroxina, com valores flutuantes da função tiroideia, que apenas normalizaram após um ano. Comentário: Os constrangimentos na acessibilidade a CS e os atrasos no pedido de MCDT levaram a um diagnóstico e tratamento tardio, tendo contribuído a articulação telefónica da MF com diferentes profissionais para tornar o processo mais célere. A indisponibilidade de doseamento de NT-Pro-BNP nos cuidados de saúde primários levou a uma referenciação ao SU que seria evitável, caso este MCDT fosse comparticipado.

Abstract Introduction: Rhabdomyolysis is a syndrome with multiple etiologies. The family physician (FP) can contribute to its investigation and to the health care articulation of the patients who suffer from it. Good access to health care and diagnostic tests are also important. Case description: Female patient, 50 years old, with a history of hypertension and hyperthyroidism treated with radioactive iodine. At the beginning of 2019, she had three appointments with other doctors due to prolonged myalgia. On June 11th she goes to the emergency department (ER) complaining of anasarca, thoracic pain, and dyspnea being diagnosed with rhabdomyolysis. She was discharged for follow-up with her FP, who consults her on June 26th and asks for blood tests and an echocardiogram. She was diagnosed with iatrogenic hypothyroidism caused by radioactive iodine therapy. After discussing the case with the Endocrinology through a phone call, she started taking levothyroxine. In her follow-up appointment with her FP on July 17th, she still complains of anasarca and dyspnea. Crackles are heard on her lung auscultation. She didn’t have the economic capacity to perform an NT-Pro-BNT to exclude acute heart failure because it wasn’t a reimbursed exam. She was referred to the ER, after discussing the case through telephone with the attendant doctor, where the NT-Pro-BNP assessment was normal, ruling out this diagnosis. She maintained treatment with levothyroxine but had a slow recovery. Comment: This case shows the obstacles that still exist in the accessibility to health care and the delay on the requirement of diagnostic tests which led to a late diagnosis. Being in touch through telephone with other health care entities made the process easier. The unavailability of NT-Pro-BNP testing in primary care led to an ER referral that could have been prevented.

ABSTRACT Atrial fibrillation is highly prevalent in patients with end‑stage kidney disease. For patients with atrial fibrillation but normal kidney function, the net clinical benefit of oral anticoagulation with vitamin K antagonists and non‑vitamin K oral anticoagulants in preventing stroke against the hemorrhagic risk is well‑known. However, dialysis patients present unique risk factors that increase ischemic stroke and bleeding events that are not included in the traditional risk scores. These points, in addition to the pharmacokinetic issues related to the use of oral anticoagulants in end‑stage kidney disease, raise the question of the safety of these drugs, making it difficult to predict whether the benefit outweighs the risk. Data on this topic in chronic kidney disease stages 4, 5, and 5D patients is sparse and the clinical guidelines are also inconsistente in which is the best approach for these patients. This review gives an overview of the state of the art on this topic, specifically the recommendations of the newest guidelines, then discusses the various risk scores and their pitfalls, and finally summarizes the current knowledge on the possible benefits of Non‑vitamin K oral anticoagulants versus Vitamin K antagonists in dialysis patients.

Incremental dialysis is increasingly recognized as a safe and beneficial method of initiating dialysis. Different centers use distinct prescription methods. We discuss the advantages of incremental hemodialysis and the potential benefit of preserving residual renal function as we present our experience. We reviewed the data from 20 incident patients, with a mean follow-up of 9.5 months, who started dialysis with our prescription method, using hemofiltration as the preferred depurative technique. All patients tolerated treatment well; no major complications were reported. Dialysis adequacy targets were achieved. While data are clearly limited, we raise the hypothesis that convective techniques could bring additional benefit in preserving residual renal function in incident patients, and that this strategy should be studied and compared with others.

Background and objectives: To evaluate RRT benefits and risks and to inform patients and their families about ESRD treatment options, we have developed a prognostic score to predict 6-month mortality in elderly ESRD patients initiating dialysis. Five independent predictors were identified and a point system was constructed: age 75 years or older (2 points), coronary artery disease (2 points), cerebrovascular disease with hemiplegia (2 points), time of nephrology care before dialysis [< 3.0 months (2 points); ≥ 3 to < 12 months (1 point)], serum albumin levels [3.0 - 3.49 g/dL (1 point); < 3.0 g/dL (2 points)]. Model performance was good in both discrimination and internal validation. Before adopting our risk score into practice, our aim is to externally validate this initial predictive model by assessing its performance on a new data set. Methods: We apply the predictive score developed in a cohort of CKD patients, aged 65 years and over who started dialysis between 2009 and 2016, to an independent cohort of ESRD patients, aged 65 years and over who started dialysis between 2017 and 2019, in our Nephrology department. The performance of the prediction equation created in development cohort, was assessed using discrimination and calibration metrics in the validation cohort. Results: Our validation study cohort included 168 individuals, with a mortality rate of 12.5% (n=21) within 6-months of dialysis initiation. Model performance in the validation cohort had an acceptable discrimination [AUC of 0.79; (95% confidence interval, 0.70 to 0.88)]. The Hosmer and Lemeshow goodness-of-fit test was not statistically significant, indicating good calibration of the model (χ2, 5 degrees of freedom = 2.311; P = 0.805). Conclusions: Our predictive simple score based on readily available clinical and laboratory data demonstrates a good performance when externally validated, namely with respect to discrimination and calibration. Model validation is crucial for adequately informing patients and their families about ESRD treatment options and providing a more patient-centered overall approach to care. Before we start general implementation in clinical practice, our score needs further validation in larger patient cohorts.

Objetivos: Comparar a performance, limitações e custo-efetividade do teste pré-natal não invasivo baseado na medição de ácido desoxirribonucleico (ADN) livre fetal com os testes tradicionais em grávidas. Fontes de dados: Bases de dados Guidelines Finder, TRIP database, CMA Infobase, The Cochrane Library, DARE, Bandolier e PubMed. Métodos de revisão: Pesquisa de meta-análises (MA), revisões sistemáticas (RS), ensaios clínicos controlados e randomizados (ECR) e guidelines publicados nas línguas inglesa, portuguesa e espanhola, entre janeiro de 2013 e julho de 2018. Termos utilizados: non-invasive prenatal test e cell-free fetal DNA. Foi utilizada a escala Canadian TASK Force na avaliação dos estudos, atribuição dos níveis de qualidade da evidência e classificação de recomendação. Foram excluídos artigos repetidos ou que não cumpriam os objetivos. O outcome selecionado foi a performance, limitações e custo-efetividade do teste. Resultados: Obtiveram-se 517 artigos, cumprindo 12 os critérios de inclusão: seis guidelines, duas RS e quatro RS com MA. O teste pré-natal não invasivo baseado na pesquisa de ADN livre fetal apresenta melhor performance para as trissomias 21, 18 e 13 que os testes tradicionais. A validade clínica do teste é superior para a trissomia 21. Não é um teste diagnóstico, devendo ser confirmado por teste invasivo, se os resultados forem positivos ou inconclusivos e feito encaminhamento para aconselhamento genético. Conclusões: O teste pré-natal não invasivo baseado na pesquisa de ADN livre fetal para as trissomias 21, 18 e 13 pode ser uma opção para grávidas de alto risco em vez da amniocentese. Se o teste for positivo ou inconclusivo deve ser confirmado por teste invasivo (II-2A). Apresenta limitações, nomeadamente se a idade gestacional for inferior a 10 semanas, obesidade, gravidez múltipla ou neoplasia materna. Nestes casos, as grávidas devem ser estudadas. Atualmente, o custo-efetividade do rastreio sequencial contingente é incerto e o rastreio universal não é custo-efetivo (III-C).

Objectives: We aim to compare the performance, limitations, and cost-effectiveness of non-invasive prenatal cell-free fetal DNA test (cff-DNA), with the traditional tests in pregnant women. Data Sources: Guidelines Finder, TRIP database, CMA-Infobase, The Cochrane Library, DARE, Bandolier, and PubMed. Review methods: We searched for meta-analysis, systematic reviews, controlled and randomized clinical trials, and clinical guidelines published in English, Portuguese, and Spanish languages between January 2013 and July 2018. Searched terms: “non-invasive prenatal test” and “cell-free fetal DNA”. The Canadian TASK Force scale was used to assess the studies’ quality and to assign the level of evidence and strength of recommendation. The selected outcome was performance, limitations, and cost-effectiveness of the test. Results: The search provided 517 articles. Twelve met the inclusion criteria: two were systematic reviews, four were systematic reviews with meta-analysis, and six were clinical guidelines. The cff-DNA test has better performance to detect trisomy 21, 18, and 13 than traditional tests. Its clinical validity is higher for trisomy 21. However, it’s not a diagnostic test. Therefore, a positive or inconclusive result must be confirmed by a diagnostic test and the pregnant women referred for genetic counseling. Conclusions: The cff-DNA test could be an option to detect trisomy 21, 18, and 13 in the high-risk pregnant women, rather than amniocentesis. If the test result is positive or inconclusive, it must be confirmed by an invasive test (II-2A). It has some limitations like test performance before 10 weeks of gestational age, maternal obesity, multiple pregnancies, or maternal neoplasia. In these situations, pregnant women should be studied. Currently, the cost-effectiveness of the contingent screening is uncertain, and the universal screening isn’t cost-effective (III-C).

RESUMO Introdução: Tem sido sugerido que os níveis de cistatina C são modificados pela obesidade e inflamação. Além disso, a cistatina C tem sido associada a eventos cardiovasculares e desfechos de mortalidade. Objetivo: Estudar a associação da cistatina C com o perfil metabólico e doença cardiovascular de pacientes em diálise peritoneal. Métodos: Os dados coletados incluíram avaliação clínica, laboratorial e de bioimpedância múltipla de 52 pacientes estáveis em diálise peritoneal. A função renal residual mínima foi definida como > 2mL/min/1,73m2. Resultados: A cistatina C sérica não esteve significativamente associada à excreção peritoneal ou urinária. A correlação negativa da cistatina C com a taxa catabólica protéica normalizada (rho -0,33, p = 0,02) e uma tendência de correlação positiva com a gordura corporal relativa (rho 0,27, p = 0,05) não foram independentes da função renal residual. A cistatina C não se associou significativamente à doença cardiovascular (p = 0,28), nem com hemoglobina glicada (p = 0,19) ou proteína C reativa (p = 0,56). No modelo multivariado, idade e diabetes foram os mais fortes preditores de doença cardiovascular (razões de probabilidade 1,09, p = 0,029 e 29,95, p = 0,016, respectivamente) enquanto a gordura corporal relativa se associou negativamente à doença cardiovascular (p = 0,038). A cistatina C não se associou significativamente com doença cardiovascular (p = 0,096), tampouco a função residual mínima (p = 0,756). Conclusão: Neste grupo de pacientes em diálise peritoneal, a cistatina C não se correlacionou com o estado metabólico ou inflamatório, nem com doença cardiovascular, após ajuste para função renal residual.

ABSTRACT Introduction: It has been suggested that cystatin C levels are modified by obesity and inflammation. Furthermore, cystatin C has been associated with cardiovascular events and mortality outcomes. Aim: To study the association of cystatin C with the metabolic profile and cardiovascular disease of peritoneal dialysis patients. Methods: Data collected included clinical, laboratorial, and multifrequency bioimpedance assessment of 52 stable peritoneal dialysis patients. Minimal residual renal function was defined as > 2mL/min/1.73m2. Results: Serum cystatin C was not significantly associated with peritoneal or urinary cystatin C excretion. Negative correlation of cystatin C with normalized protein catabolic rate (rho -0.33, p = 0.02) and a trend towards positive correlation with relative body fat (rho 0.27, p = 0.05) were not independent from residual renal function. Cystatin C was not significantly associated with cardiovascular disease (p = 0.28), nor with glycated hemoglobin (p = 0.19) or c-reactive protein (p = 0.56). In the multivariate model, both age and diabetes were the strongest predictors of cardiovascular disease (odds ratio 1.09, p = 0.029 and odds ratio 29.95, p = 0.016, respectively), while relative body fat was negatively associated with cardiovascular disease (p = 0.038); neither cystatin C (p = 0.096) nor minimal residual renal function (p = 0.756) reached a significant association with cardiovascular disease. Conclusions: In this group of peritoneal dialysis patients, cystatin C did not correlate with the metabolic or inflammatory status, nor cardiovascular disease, after adjustment for residual renal function.

Introdução: A síndroma de polipose adenomatosa familiar (PAF), na sua forma clássica, é autossómica dominante. Os indivíduos afetados podem permanecer assintomáticos por vários anos, pelo que se houver história familiar de PAF dever-se-á manter suspeição clínica. Assim, este relato de caso pretende reforçar o papel do médico de família na abordagem desta patologia rara e realçar a necessidade de um trabalho em equipa e de cuidados de saúde perfeitamente coordenados, tendo em conta as dificuldades existentes no seu diagnóstico atempado. Descrição do caso: Utente com 20 anos observada pela sua médica de família por história de vómitos, dejeções diarreicas frequentes e perda ponderal de 7kg com duas semanas de evolução. Ao exame objetivo, com dor à palpação e sinal de blumberg presente na transição da região peri-umbilical para o hipocôndrio esquerdo. Através da entrevista clínica e realização do genograma familiar verificou-se a existência de um padrão de transmissão hereditária de patologia do trato gastrointestinal. Foi enviada para o serviço de urgência hospitalar, onde se excluiu a existência de patologia cirúrgica abdominal e/ou ginecológica, tendo tido alta referenciada para consulta de medicina interna. Após realização de colonoscopia total ficou internada para resseção cirúrgica de adenocarcinoma do cólon sigmóide. Comentário: Este caso realça simultaneamente a importância do genograma familiar e a limitação temporal à sua aplicação pelo médico de família. Reforça ainda a importância da integração e coordenação de cuidados de saúde nesta patologia. O médico de família deverá conhecer as possíveis complicações da intervenção cirúrgica realizada, bem como outras patologias associadas à PAF e qual o tipo de acompanhamento que deve ser feito nestes utentes. Neste caso há ainda que ter em consideração a necessidade de rastreio de outros familiares afetados e a importância da consulta pré-concecional e/ou de diagnóstico pré-natal.

Introduction: The familial adenomatous polyposis syndrome (FAP), in its classic form, is autosomal dominant. The affected individuals may remain asymptomatic for several years, so it’s important to know their family history and maintain a certain degree of clinical suspicion. Therefore, this case intends to reinforce the role of the family doctor in the approach of this rare pathology and emphasize the need for perfectly coordinated teamwork and health care, bearing in mind the difficulties of a timely diagnosis. Case description: A 20-year-old woman was observed by her family doctor for vomiting, frequent diarrhea and weight loss of 7kg in the last two weeks. She had pain and rebound tenderness on palpation of the peri-umbilical region and left hypochondrium. Through the clinical interview and realization of the family genogram, it was verified the existence of a pattern of hereditary transmission of the pathology of the gastrointestinal tract. She was sent to the emergency department of the hospital, where the existence of surgical and gynecological pathology was excluded, having medical release but referred for internal medicine consultation. After a complete colonoscopy, she was admitted for surgical resection of adenocarcinoma of the sigmoid colon. Comment: This case highlights both the importance of the genogram and the temporal limitation on its application by the family doctor. It also reinforces the importance of integrating and coordinating health care in this pathology. The family doctor should know the possible complications of the surgical intervention, as well as other pathologies associated with FAP and what kind of follow-up should be done in these patients. In this case, it is also necessary to take into account the need for screening of other affected relatives and the importance of pre-conception consultation and/or prenatal diagnosis.

Resumo A ocorrência de ascite no pós-Transplante Renal (TR) é infrequente, podendo ser consequência de complicações cirúrgicas ou médicas. Caso clínico: 61 anos, masculino, antecedentes de hipertensão arterial, carcinoma da língua e hábitos alcoólicos 12-20g/dia. Doença renal crônica secundária à doença renal poliquística autossômica dominante, sem poliquistose hepática. Submetido a TR de doador cadáver em setembro de 2017. Atraso na função de enxerto por estenose da artéria renal, corrigida cirurgicamente. Internado em janeiro de 2018 por ascite de novo, sem resposta a diuréticos. Circulação colateral abdominal visível. Disfunção do enxerto, tacrolinemia adequada. Sedimento urinário inocente. Anemia ligeira, sem trombocitopenia. Albumina sérica 4,0g/dL. Bioquímica hepática normal. Líquido peritoneal com características de transudado e gradiente sero-ascítico de albumina > 1,1. Ecografia com hepatomegalia, eixos vasculares permeáveis, sem esplenomegalia. Suspendeu micofenolato mofetil, reduziu restante imunossupressão. Manteve ascite refratária: excluídas etiologias infecciosas, metabólicas, autoimunes e neoplásicas. Sem proteinúria nefrótica e sem insuficiência cardíaca. RM: micronódulos compatíveis com quistos biliares. EDA sem varizes gastroesofágicas. Linfocintigrafia abdominal normal. Submetido a laparoscopia exploradora com biópsia hepática: cirrose septal incompleta de provável etiologia vascular, alguns ductos biliares dilatados. Manteve disfunção progressiva do TR, reiniciou hemodiálise. Proposta medição direta da pressão portal, protelada por resolução da ascite. Recuperação posterior da função de enxerto. Discussão: A cirrose septal incompleta é uma causa incomum de hipertensão portal não cirrótica. A sua definição é morfológica e a fisiopatologia, pouco conhecida. Não encontramos publicados casos de ascite pós-TR secundária a esta patologia, descrita como possivelmente associada a fármacos, alterações imunitárias, infecções, hipercoagulabilidade e predisposição genética.

Abstract The occurrence of ascites after Renal Transplant (RT) is infrequent, and may be a consequence of surgical or medical complications. Case report: 61 year-old, male, history of arterial hypertension, tongue carcinoma and alcoholic habits 12-20g/day. He had chronic kidney disease secondary to autosomal dominant polycystic kidney disease, without hepatic polycystic disease. He underwent cadaver donor RT in September 2017. He had delayed graft function by surgically corrected renal artery stenosis. He was admitted in January 2018 for ascites de novo, with no response to diuretics. HE had visible abdominal collateral circulation. Graft dysfunction, adequate tacrolinemia, Innocent urinary sediment, mild anemia, without thrombocytopenia. Serum albumin 4.0g / dL. Normal hepatic biochemistry. Peritoneal fluid with transudate characteristics and serum albumin gradient > 1.1. Ultrasound showed hepatomegaly, permeable vascular axes, without splenomegaly. Mycophenolate mofetil was suspended, with reduced remaining immunosuppression. He maintained refractory ascites: excluded infectious, metabolic, autoimmune and neoplastic etiologies. No nephrotic proteinuria and no heart failure. MRI: micronodules compatible with bile cysts. Upper Digestive Tract Endoscopy did not show gastroesophageal varicose veins. Normal abdominal lymphoscintigraphy. He underwent exploratory laparoscopy with liver biopsy: incomplete septal cirrhosis of probable vascular etiology some dilated bile ducts. He maintained progressive RT dysfunction and restarted hemodialysis. The proposed direct measurement of portal pressure was delayed by ascites resolution. There was further recovery of the graft function. Discussion: Incomplete septal cirrhosis is an uncommon cause of non-cirrhotic portal hypertension. Its definition is not well known, morphological and pathophysiological. We have not found published cases of post-RT ascites secondary to this pathology, described as possibly associated with drugs, immune alterations, infections, hypercoagulability and genetic predisposition.

RESUMO Introdução: Doença renal crônica (DRC) é fator de risco independente para vários desfechos desfavoráveis, incluindo doença cardiovascular (DCV), particularmente em idosos, o segmento de crescimento mais rápido da população com doença renal terminal (DRT). Portugal tem a maior incidência europeia não-ajustada e a maior prevalência de DRT. Neste artigo caracterizamos uma coorte de idosos com DRC, referenciados para a nefrologia, com particular ênfase para o risco e carga de doença cardiovascular. Métodos: Foram incluídos todos os pacientes com DRC com 65 anos ou mais encaminhados ao nosso departamento em 2012. Os dados basais incluíram: demografia, estágio da DRC, medicação e comorbidades. A taxa de filtração glomerular (TFGe) foi calculada pela fórmula CKD-EPI. Resultados: Metade dos 416 pacientes incluídos foram encaminhados por médicos da atenção primária; sua idade era 77 ± 7 anos; 52% eram homens; a TFGe mediana era de 32 mL /min/1,73 m2. Metade tinha diabetes (DM), 85% dislipidemia, 96% hipertensão; 26% eram fumantes atuais/ antigos; 24% tinham índice de massa corporal > 30 kg/m2. A prevalência de DCV foi de 62%, sendo maior entre pacientes nos estágios 4-5; em diabéticos, aumentou gradualmente com a progressão da DRC (estágio 3a < estágio 3b < estágio 4-5) (39%, 58%, 82%; p < 0,001). Conclusões: A coorte de idosos com DRC apresentava inicialmente maior carga de DCV. A prevalência de DCV foi maior que em outras coortes europeias com DRC. Níveis menores de TFGe foram associados a carga maior de DCV e foram mais pronunciados entre diabéticos, destacando a importância de objetivar estrategicamente a redução do risco cardiovascular nesses pacientes.

ABSTRACT Introduction: Chronic kidney disease (CKD) is an independent risk factor for several unfavorable outcomes including cardiovascular disease (CVD), particularly in the elderly, who represent the most rapidly growing segment of the end-stage kidney disease (ESKD) population. Portugal has the highest European unadjusted incidence and prevalence rates of ESKD. In 2012, we started to follow a cohort of elderly CKD patients, we describe their baseline characteristics, risk profile, and cardiovascular disease burden. Methods: All CKD patients aged 65 years and older referred to our department during 2012 were enrolled. Baseline data included: demographic, CKD stage, medication, comorbid conditions. Estimated glomerular filtration rate (eGFR) was calculated by the CKD-EPI formula. Results: A total of 416 patients, 50% referred by primary care physicians, aged 77 ± 7 years, 52% male, with a median eGFR of 32 mL/min/1.73m2 participated in the study. Fifty percent had diabetes (DM), 85% dyslipidemia, 96% hypertension; 26% were current/former smokers, and 24% had a body mass index > 30 kg/m2. The prevalence of CVD was 62% and higher in stage 4-5 patients; in diabetics, it gradually increased with CKD progression (stage 3a < stage 3b < stage 4-5) (39, 58, 82%; p < 0.001). Conclusions: At baseline, our CKD elderly cohort had a higher burden of CVD. The prevalence of CVD was greater than in other European CKD cohorts. Lower level of eGFR was associated with a greater burden of CVD and was more pronounced in diabetics, highlighting the importance of strategically targeting cardiovascular risk reduction in these patients.

Uma causa muito frequente de ida ao serviço de urgência é a síncope. No idoso, as patologias crónicas e a polimedicação dificultam a abordagem diagnóstica. No caso clínico que se apresenta a abordagem foi um desafio para a equipa médica, dada a história clínica ser tão frustre. Assim, apresenta-se o caso de um homem de 80 anos que recorre ao serviço de urgência por síncope desencadeada pela tosse. Referia apenas tonturas e alterações visuais antes da perda de consciência. É discutida a abordagem diagnóstica da síncope e os diagnósticos diferenciais, em especial a síndroma do seio carotídeo.

Syncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditions can difficult the diagnosis. In this case, an unexpected association between symptoms and the final diagnosis was a clinical challenge. An 80-year-old Caucasian man presents with syncopal episodes after a cough. Dizziness and visual changes were the only preceding complaints. Structured assessment is needed to face any patient, but is particularly important in the older patient because there are several constraints that hinder the approach: chronic diseases, different physiology, and clinical history sometimes more nonspecific. Thus, a diagnostic approach is discussed, with special focus in carotid sinus syndrome.

Tubulointersticial nephritis and uveitis syndrome is an idiopathic and rare cause of acute kidney injury that should not overlooked, because it usually requires specific therapeutic interventions. We report two distinct cases: a young and an elder female. Both cases presented with unspecific constitutional symptoms but had different onset of renal and ocular involvement. Both were treated with topical and systemic corticoids and although there was a good initial response in both cases, an early relapse after steroids taper was observed in the younger patient and a persistent renal dysfunction in the older one. A high clinical suspicion and understanding of this disease is necessary for an adequate management and treatment of these patients. Recent data associates a worse renal prognosis when the disease appears inadvanced age. In both of our cases the outcome was good but we had a short follow-up. The histological presentation of this disease in our older patient was similar to that reported in the literature, with a high percentage of fibrosis and chronicity of renal tissue that can contribute to the higher grade of renal dysfunction in this type of patients

Monoclonal gammopathies are a heterogeneous group of disorders characterized by clonal proliferation of immunoglobulin produced by B-lymphocytes or plasma cell clone. The term monoclonal gammopathy of renal significance (MGRS) was introduced to distinguish monoclonal gammopathies that result in the development of kidney disease from those that are benign. Screening for monoclonal immunoglobulin and an appropriate hematologic workup are fundamental and sometimes a difficult challenge, with therapeutic and prognostic implications. Kidney biopsy is essential to determine the exact nature of the lesion and to evaluate the severity of renal disease. In this review we discuss the clinical and pathologic features of MGRS, highlighting the most diagnostic difficulties and current therapeutic options

Objetivos: Avaliar a demonstração prática e a descrição oral da utilização do inalador pressurizado e inalador em pó seco de médicos e profissionais de farmácia. Tipo de estudo: Observacional, multicêntrico, analítico, transversal. Local: Centros de saúde, serviços de pediatria e medicina interna e farmácias de quatro ilhas dos Açores. População: Médicos e profissionais de farmácia. Métodos: Nos médicos foi efetuado um censo da população, enquanto nos profissionais de farmácia foi feita uma amostra de conveniência. Os profissionais simularam o uso de dois dispositivos inalatórios e os autores verificaram o cumprimento de cada etapa numa checklist. Para a análise dos dados foi utilizada a regressão logística binária. Resultados: Participaram no estudo 45 profissionais de farmácia, 91 médicos de família, 26 internistas e 19 pediatras com idade média de 40,8 anos (±12,2), 66,9% (121) eram mulheres. Cinco (2,8) demonstraram corretamente a técnica inalatória de ambos os dispositivos. As etapas em que mais erraram foram: a expiração máxima antes da inalação, suster a respiração pelo menos cinco segundos em ambos os inaladores, lavar a boca com água e agitar o inalador pressurizado antes de usar. No inalador pressurizado, um conhecimento pobre da técnica inalatória está relacionado com o facto de ser profissional de farmácia (OR=4,94), idade entre 51 e 65 anos (OR=5,95) e explicar “às vezes, nem sempre ou nunca” a técnica (OR=3,63). Relativamente ao inalador pó seco observou-se que ter um conhecimento pobre da técnica inalatória está associado com o facto de ser profissional de farmácia (OR=3,51), internista (OR=6,55), idade entre 36 e 50 anos (OR=3,68), 51 e 65 anos (OR=11,44) e exercer na ilha do Faial (OR=15,98). Conclusões: A maioria dos profissionais de saúde falha na explicação de várias etapas essenciais para o uso correto dos dispositivos inalatórios.

Objectives: To evaluate physicians’ and pharmacists’ knowledge and competence in the use of pressurized metered dosed inhalers and turbohalers. Study Design: Multicenter cross-sectional. Setting: Primary healthcare centers, pediatric and internal medicine services, and pharmacies on four Azorean islands. Participants: Family physicians, internists, pediatricians, and pharmacists. Methods: A census of the population of physicians and a convenience sample of pharmacists were obtained. Health care providers were asked to demonstrate the use of two inhaler devices. The authors observed each step using a checklist. Logistic regression was used for data analysis. Results: The study population included 45 pharmacists, 91 family doctors, 26 internists and 19 pediatricians. The mean age of participants 40.8 years (±12.2), and 66.9% (121) of the sample were women. Five participants (2.8%) correctly demonstrated inhalation technique with both devices. The most prevalent errors observed were failing to exhale to residual volume, failing to hold the inhaled breath for 5 seconds with both inhalation devices, failure to wash the mouth with water if the device contained steroids, and failure to shake the metered dosed inhaler before using it. Poor knowledge about inhalation technique with the metered dosed inhaler was related to being a pharmacist (OR=4.94), age between 61 and 65 years (OR=5.95), and explaining the technique to patients ‘sometimes, almost never, or never’ (OR=3.63). With the dry powder inhaler, poor knowledge about inhalation technique was related to being a pharmacist (OR=3.51), being an internist (OR=6.55), age between 36 and 50 years (OR=3.68), age between 51 and 65 years (OR=11.44), and practicing in Faial island (OR=15.98). Conclusions: This study showed that most health care providers fail in their explanation of some essential steps in the correct use of inhalation devices.

Objectivos: Determinar a efectividade e segurança da administração da vacina anti-pneumocócia polissacárida em idosos. Fontes de Dados: National Guideline Clearing House, Canadian Medical Association, Cochrane Library, TRIP database, Pubmed, Bandolier, Dare e Índex de Revistas Médicas Portuguesas. Métodos de revisão: Pesquisa de normas de orientação clínicas, metanálises, revisões sistemáticas e ensaios clínicos aleatorizados e controlados publicados entre Maio de 2002 e Julho de 2012 nas línguas inglesa, portuguesa e espanhola. Foram utilizados os termos MeSH pneumococcal vaccines e aged. Na avaliação dos estudos e atribuição dos níveis de evidência e forças de recomendação foi utilizada a escala Strength of Recommendation Taxonomy (SORT) da American Family Physician. Resultados: Foram encontrados 517 artigos. Destes, apenas 12 preencheram os critérios de inclusão, dos quais cinco normas de orientação clínica, três metanálises, três revisões sistemáticas e um ensaio clínico controlado e aleatorizado. Apesar da segurança da vacina, não existe consenso sobre a efectividade da mesma nos idosos. Os estudos observacionais revelaram uma efectividade de 55% a 59% na prevenção da doença pneumocócica invasiva, ao contrário dos ensaios clínicos aleatorizados e controlados incluídos nas metanálises e revisões sistemáticas avaliadas. Conclusões: Perante a evidência disponível não foi possível determinar a efectividade da vacina anti-pneumocócica no idoso (Força de Recomendação B). São necessários ensaios clínicos controlados, aleatorizados, de elevada qualidade, de grandes dimensões, cuja amostra seja representativa da população de idosos para quem a vacina é recomendada, para obter conclusões firmes sobre a efectividade da mesma.

Objectives: To determine the effectiveness and safety of pneumococcal vaccine in the elderly. Data Sources: National Guideline Clearing House, Canadian Medical Association, Cochrane Library, TRIP database, Pubmed, Bandolier, Dare and Índex de Revistas Médicas Portuguesas. Review methods: A search for clinical practice guidelines, systematic reviews, meta-analyses and randomized controlled trials published between May 2002 and July 2012 was performed using the MeSH terms “pneumococcal vaccines” and “aged”. The Strength of Recommendation Taxonomy scale of the American Family Physician was applied to evaluate the quality of the studies and the level of evidence. Results: We found 517 articles, but only twelve met the inclusion criteria. These included five clinical practice guidelines, three meta-analyses, three systematic reviews and one randomized controlled trial. Studies were inconsistent regarding the effectiveness of pneumococcal vaccine in the elderly, despite its safety. Observational studies showed that the vaccine has an effectiveness of 55% to 59% in preventing invasive pneumococcal disease, in contrast with the randomized controlled clinical trials included in the meta-analyses and systematic reviews evaluated which did not demonstrate benefit. Conclusions: The available evidence is not strong enough to support the routine use of the pneumococcal vaccine in the elderly (Strength of Recommendation B). Additional high quality randomized controlled trials with a representative sample of the population for whom the vaccine is recommended are necessary to assess the need for the pneumococcal vaccine.

Objectives: To assess the yield of medical record review to recover missing data originally collected by questionnaire, to analyze the agreement between these two data sources and to determine interobserver variability in clinical record review. Methods: We analyzed data from a birth cohort of 8,127 women who were consecutively recruited after giving birth from 2005-2006. Recruitment was conducted at all public maternity units of Porto, Portugal. We reviewed the medical records of 3,657 women with missing data in the baseline questionnaire and assessed agreement between these two sources by using information from participants with data from both sources. Interobserver variability was assessed by using 400 randomly selected clinical records. Results: Data on pregnancy complications and maternal anthropometric parameters were successfully recovered. Agreement between the questionnaire and records in family history data was fair, particularly for cardiovascular disease [k=0.27; 95% confidence interval (95%CI): 0.23-0.32]. The highest agreement was observed for personal history of diabetes (k=0.82; 95%CI 0.70-0.93), while agreement for hypertension was moderate (k=0.60; 95%CI 0.50-0.69). Discrepancies in prepregnancy body mass index classes were observed in 10.3% women. Data were highly consistent between the two reviewers, with the highest agreement found for gestational diabetes (k=1.00) and birth weight (99.5% concordance). Conclusion: Data from the medical records and questionnaire were concordant with regard to pregnancy and well-known risk factors. The low interobserver variability did not threaten the precision of our data.

Objetivo: Evaluar el rendimiento de la revisión de registros médicos para completar datos originalmente recogidos por cuestionario, y analizar la concordancia entre ambas fuentes de datos y la variabilidad interobservador en la revisión de registros médicos. Métodos: Cohorte de nacimiento con 8.127 mujeres reclutadas de forma consecutiva después del parto en todas las maternidades públicas de Porto, Portugal (2005-2006). Se revisaron los registros médicos de 3.657 mujeres con datos incompletos en el cuestionario inicial, y se evaluó la concordancia entre ambas fuentes. La variabilidad interobservador se evaluó en 400 historias clínicas seleccionadas aleatoriamente. Resultados: La información sobre complicaciones patológicas del embarazo y la antropometría de las madres se recuperó con éxito. La concordancia entre el cuestionario y los registros con respecto a los antecedentes familiares era débil, especialmente para las enfermedades cardiovasculares (k=0,27, intervalo de confianza del 95% [IC95%]: 0,23-0,32). La concordancia máxima se observó en los antecedentes personales de diabetes (k=0,82, IC95%: 0,70-0,93), mientras que para la hipertensión fue moderada (k=0,60, IC95%: 0,50-0,69). Se observaron discrepancias en las categorías de índice de masa corporal antes del embarazo en el 10,3% de las mujeres. Los datos fueron muy concordantes entre los revisores, con el máximo nivel de concordancia para la diabetes gestacional (k=1,00), seguida del peso al nacer (99,5% concordantes). Conclusión: Los registros médicos y la información del cuestionario fueron concordantes para los datos relacionados con el embarazo y los factores de riesgo conocidos. La baja variabilidad interobservador no pone en peligro la precisión de los datos.