[Syphilis: Prevalence in a Hospital in Lisbon]. / Sífilis: Prevalência num Hospital de Lisboa.

INTRODUCTION: Syphilis is a sexual and vertical transmitted disease. Its incidence is increasing in Europe, particularly, in Portugal. MATERIAL AND METHODS: A descriptive, retrospective study was performed based on positive treponemal tests from January to December 2013, at the Santa Maria Hospital, Lisbon. In-patients and out-patients evaluated in medical appointments and at the emergency department were included. We proceeded to epidemiological characterization, disease classification and definition of risk factors. RESULTS: We obtained a sample of 580 patients, of whom 51 with no clinical data and 45 with false positive serologies were excluded. There was a predominance of male patients (75%) and a mean age of 47 years. Most (59%) had syphilis successfully treated in the past and 3.7% were in follow-up. We recorded 13 primaries syphilis, 71 cases of secondary syphilis, 40 cases of early latent syphilis, 49 unknown duration syphilis and five cases of late latent syphilis. In the early syphilis group, 42% (n = 124) were HIV-positive and, in 8% both diagnosis were done simultaneously. DISCUSSION: We emphasize the high prevalence of syphilis/HIV co-infection in patients with early syphilis, reinforcing the importance of promoting the use of preventive measures. We obtained 11% of patients with late clinical forms, which are notifiable since June 2014, in Portugal. All serological tests for the diagnosis of syphilis have limitations which emphasizes the importance of clinical-laboratory correlation. CONCLUSION: Syphilis remains an important public health problem. It is necessary to establish education programs, screening and follow-up strategies to reduce their prevalence and to perform more efficient screening of the partners.

Introdução: A sífilis é uma doença de transmissão sexual e vertical. A sua incidência está a aumentar na Europa, particularmente em Portugal. Material e Métodos: Estudo retrospetivo baseado na análise laboratorial de testes treponémicos positivos, entre janeiro e dezembro de 2013, no Hospital de Santa Maria. Foram incluídos doentes internados, da consulta externa, do hospital dia e da urgência. Procedeu-se a caraterização epidemiológica, classificação da doença e de fatores de risco associados. Resultados: Obteve-se uma amostra de 484 doentes, após exclusão de 51 por ausência de dados clínicos nos processos e de 45 por valores falsos positivos. Verificou-se predomínio do sexo masculino (75%) e idade média de 47 anos. A maioria (59%) tinha testes serológicos compatíveis com sífilis no passado e 3,7% encontrava-se em vigilância clínica. Diagnosticou-se sífilis primária em 13doentes, secundária em 71, latente precoce em 40, latente indeterminada em 49 e latente tardia em cinco. No grupo sífilis recente, 42% (n = 124) eram seropositivos para o VIH e 8% tiveram, em simultâneo, este diagnóstico. Discussão: Salienta-se a elevada prevalência da coinfeção pelo VIH nos doentes com sífilis recente, reforçando a importância de promover a utilização de medidas preventivas. Registaram-se 11% de formas clínicas tardias, que são de notificação obrigatória desde junho de 2014. Todos os testes serológicos para o diagnóstico de sífilis apresentam limitações, o que enfatiza a importância da correlação clínico-laboratorial. Conclusão: A sífilis continua a ser um problema de saúde pública pelo que é necessário estabelecer programas de educação, rastreio e follow-up para reduzir a sua prevalência e tornar mais eficiente o rastreio dos parceiros.

Hypocalcemic cardiomyopathy.

The association between hypocalcemia and heart failure is rare. There are few reported cases in the literature of this association, which is termed hypocalcemic cardiomyopathy. We report the case of a 61-year-old woman with no relevant medical history, admitted for progressively worsening exertional dyspnea, orthopnea and edema of the lower limbs for a previous month. Physical examination showed diffuse muscle spasms, with no signs of latent tetany.Further investigation revealed ionized calcium 0.54 mmol/l (normal 1.12-1.30), phosphorus 9.8 mg/dl, parathyroid hormone <2.5 pg/ml and CK >3000 U/l, with normal thyroid function. The electrocardiogram showed long QT interval and a pattern of left ventricular overload, and myocardial biomarkers were negative. The echocardiogram revealed regional wall motion abnormalities, coronary angiography was normal and a cranial CT scan detected calcification of basal ganglia and white matter. She started diuretic and calcium replacement therapy which resulted in complete clinical recovery, with no need for heart failure therapy after normalization of serum calcium.

[Subvalvular aortic stenosis associated with 8p23 deletion]. / Estenose aórtica subvalvular associada à deleção 8p23.

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo interstitial deletion in chromosome 8 in the region p23.1-p23.2. This is a rare chromosomal anomaly (about 50 descriptions in the literature), whose most common manifestations include heart defects, cognitive retardation and behavioral disturbances. In this paper we present the first case with associated subvalvular aortic stenosis and review the literature on this chromosomal abnormality.