Previous reports have suggested that essential tremor (ET) represents a risk factor for the development of Parkinson's disease (PD). Patients with long-standing ET who develop PD tend to have a tremor-dominant subtype. To further clarify this association, we examined patients from kindreds with autosomal dominant ET who had signs of isolated PD but did not meet criteria for overlapping ET. We identified 22 patients with PD meeting these diagnostic criteria, and 90% (20 of 22) had tremor-predominant subtype of PD. Unilateral rest tremor was the presenting symptom in 15 of 22 patients, bradykinesia or rigidity in 5 of 22, and gait problems in 2 of 22. Postural tremor was relatively mild, and the severity of kinetic tremor tightly correlated with rest tremor (r = 0.83, P < 0.001). Tremor-dominant subtype of PD in patients with a positive family history of ET suggests that these patients have inherited a genetic susceptibility factor for tremor, which affects the motor phenotype of PD.

OBJECTIVES: The aim of this study was to prospectively assess the pattern of evolution of primary resistance to antibiotics in Helicobacter pylori strains isolated from Portuguese children over a 10 year period (2000-09). METHODS: A total of 1115 H. pylori strains were tested for antibiotic susceptibility to clarithromycin, metronidazole, amoxicillin, ciprofloxacin and tetracycline. RESULTS: H. pylori strains were isolated from children and adolescents [ages 4 months-18 years (mean age 10.17 ± 4.03 years)], comprising 562 (50.4%) boys and 553 (49.6%) girls. Overall, the primary resistance rate was 34.7% to clarithromycin, 13.9% to metronidazole and 4.6% to ciprofloxacin, while 6.9% were resistant to two of these antibiotics simultaneously. Resistance to amoxicillin and to tetracycline was not detected. In general, the resistance rate was not associated with gender or the children's age. European ethnicity, when compared with an African background, was associated with clarithromycin resistance [P = 0.002; odds ratio (OR) = 0.30; 95% confidence interval (CI) 0.14-0.66], while the inverse situation was observed for metronidazole (P < 0.001; OR = 3.50; 95% CI 1.90-6.45). No significant temporal trend was noticed for resistance to clarithromycin and metronidazole...

Although Staphylococcus aureus is a major cause of outbreaks in neonatal intensive care units (NICUs), there are no studies on the epidemiology of S. aureus isolates responsible for infection in Portuguese NICUs. Between July 2005 and December 2007, a total of 54 methicillin susceptible S. aureus (MSSA) isolates were recovered from 16 infected infants, parents, health care workers (HCWs), and the environment in a level III NICU. Isolates were characterized by pulsed-field gel electrophoresis (PFGE), spa typing, and multilocus sequence typing. Virulence determinants were detected by multiplex polymerase chain reaction. Three major MSSA clones were endemic in the NICU, representing 70% (n=38) of the isolates: PFGE type A-ST5 (n=17); type B-ST30 (n=12); and type C-ST1 (n=9). Leukotoxins and hemolysins were present in all isolates, although none of them carried PVL. HCWs, plastic folders protecting clinical files, and mothers' nipples were identified as potential reservoirs and/or vehicles of dissemination of S. aureus. Consequently, additional infection control measures were implemented in this NICU.

In this study, we have investigated the diversity of current HIV-1 strains circulating in the metropolitan area of Lisbon, Portugal. A total of 217 HIV-1-positive blood samples, collected between October 1998 and December 2000, was genetically characterized in the gp120 C2V3C3 region (n = 205) or part of the gp41 N-terminal segment (n = 12) by heteroduplex mobility assay (HMA) and/or DNA sequencing. The HMA subtyping efficiency (number of samples unambiguously subtyped by HMA divided by the total number of samples subtyped) was 65.9% (143 of 217), with indeterminate migration patterns of subtype A and G strains contributing significantly to this value. On the overall, subtype B was the most prevalent (50.2%), followed by subtypes G (21.7%), A (17.5%), and F (5.5%), whereas subtypes C, D, H, and J accounted altogether for 5.1% of the infections. Non-B subtypes were responsible for 77.4 and 33.1% of the infections among African immigrants and Portuguese subjects, respectively. Angolan individuals (n = 25) were the only ones infected with all the HIV-1 subtypes documented, probably reflecting a high degree of viral genetic diversification in their country of origin. Phylogenetic analysis showed a predominance of IbNG-like viruses among subtype A sequences and two new major subclusters within subtype G (G(P) and G(P)'). The majority of the Portuguese G sequences described formed a well-defined subcluster (G(P))...

2011– Abstract publication “Reliability of the Six Minute Walk Test and Timed Up & Go Test in Persons with Transfemoral Amputation”, Physiotherapy, 97, Supplement 1, June 2011, p: S18-S1415 - Special Interest Report Abstracts, pages. S227. (IF=0.641); Purpose: The purpose of this study was to analyze the between two days test-retest reliability of the Six-Minute Walk Test (6MWT) in persons with Transfemoral (TF) amputation. Additionally, relationship between the distance of walking in the 6MWT and the time to perform the Timed Up & Go Test (TUGT) was investigated. Relevance: Transfemoral amputation results in permanent disability and impairment among people of all ages. Therefore, the main goals of rehabilitation programs are the improvement of functioning, especially mobility, and successful reintegration in the community. Generally, the effectiveness of these programs is assessed in terms of ability to walk independently, as well as, the maximum functional independence achieve by the subject. In several pathologies and age groups, the 6MWT and the TUGT are considered as gold standard measures showing high test-retest reliability. Additionally, good results were found in subjects with transtibial amputation. Thus, it becomes relevant to explore the reliability of these two tests in other lower-limb amputees...

Anti-nuclear antibodies (ANA) are fundamental for the diagnosis of autoimmune diseases, and have been determined by indirect immunofluorescence assay (IIFA) for decades. As the demand for ANA testing increased, alternative techniques were developed challenging the classic IIFA. These alternative platforms differ in their antigen profiles, sensitivity and specificity, raising uncertainties regarding standardisation and interpretation of incongruent results. Therefore, an international group of experts has created recommendations for ANA testing by different methods. Two groups of experts participated in this initiative. The European autoimmunity standardization initiative representing 15 European countries and the International Union of Immunologic Societies/World Health Organization/Arthritis Foundation/Centers for Disease Control and Prevention autoantibody standardising committee. A three-step process followed by a Delphi exercise with closed voting was applied. Twenty-five recommendations for determining ANA (1-13), anti-double stranded DNA antibodies (14-18), specific antibodies (19-23) and validation of methods (24-25) were created. Significant differences between experts were observed regarding recommendations 24-25 (p<0.03). Here...

Education and diagnostic tests capable of early detection represent our most effective means of preventing transmission of human immunodeficiency virus (HIV). The importance of early detection is underlined by studies demonstrating increased life expectancy following early initiation of antiviral treatment. The Elecsys(®) HIV combi PT assay is a fourth-generation antigen-antibody combination assay developed to allow earlier detection of seroconversion, and to have increased sensitivity and improved specificity. We aimed to determine how early the assay could detect infection compared with existing assays; whether all HIV variants could be detected; and the assay's specificity using samples from blood donors, routine specimens, and patients with potential cross-reacting factors. Samples were identified as positive by the Elecsys(®) assay 4.9 days after a positive polymerase chain reaction result (as determined by the panel supplier), which was earlier than the 5.3-7.1 days observed with comparators. The analytical sensitivity of the Elecsys(®) HIV combi PT assay for the HIV-1 p24 antigen was 1.05 IU/mL, which compares favorably with the comparator assays. In addition, the Elecsys(®) assay identified all screened HIV subtypes and displayed greater sensitivity to HIV-2 homologous antigen and antibodies to HIV-1 E and O and HIV-2 than the other assays. Overall...

Leprosy or Hansen's disease is a chronic granulomatous infectious disease caused by Mycobacterium leprae with a high prevalence in some developing countries however, it is rarely seen in non-endemic regions. Arthritis has been described in all types of Hansen's disease. Chronic arthritis is known to exist even in paucibacillary forms, resolved or treated disease and in patients without reaction, suggesting a perpetuated inflammatory process. In these cases leprosy can mimic some autoimmune diseases such as rheumatoid arthritis. When a patient with a history of leprosy presents with a symmetric, distal, polyarthritis the diagnosis may not be linear. Possibly it is a rheumatoid-like leprous arthritis with M leprae acting as the trigger element for the chronic process or it is an overlap condition, with a concomitant rheumatoid arthritis? A case report of a patient with a chronic inflammatory arthritis with 10 years of evolution is presented. The differential diagnosis between leprous and rheumatoid arthritis is discussed.

Homozygous complement C4B deficiency is described in a Southern European young female patient with Membranoproliferative Glomerulonephritis (MPGN) type III characterized by renal biopsies with strong complement C4 and IgG deposits. Low C4 levels were independent of clinical evolution or type of immunosuppression and were found in three other family members without renal disease or infections. HLA typing revealed that the patient has homozygous A*02, Cw*06, B*50 at the class I region, and DRB1*08 and DQB1*03 at the class II region. Genotypic and phenotypic studies demonstrated that the patient has homozygous monomodular RCCX in the HLA class III region, with single long C4A genes coding for C4A3 and complete C4B deficiency. Her father, mother, son and niece have heterozygous C4B deficiency. The patient's deceased brother had a history of Henoch-Schönlein Purpura (HSP), an immune complex-mediated proliferative glomerulonephritis. These findings challenge the putative pathophysiological roles of C4A and C4B and underscore the need to perform functional assays, C4 allotyping and genotyping on patients with persistently low serum levels of a classical pathway complement component and glomerulopathy associated with immune deposits.

We report two cases of a peculiar leukoencephalopathy with temporal cysts. Both patients have a non-progressive neurological disorder with mental retardation, microcephaly and sensorineural deafness although clinical differences between them may reflect a different aetiology. The metabolic disorders with white matter involvement and the recently described leukoencephalopathies (Van Der Knaap disease, 'vanishing white matter disease') were excluded based on clinical, biologic and imaging findings. Cytomegalovirus infection is a likely possibility in the first case although the magnetic resonance imaging picture is only partially similar to previously reported cases. Our patients are strikingly similar to the patients reported by Deonna et al. and Olivier et al. We discuss the clinical and imaging findings in our patients and the differential diagnosis considering the known disorders of the white matter in childhood.

The authors present the case of a 47 years old female, with no past or familial history, hospitalized due to vomiting and significant weight loss over the last 9 months, without abdominal pain, blood loss, constipation or diarrhea. Blood tests results revealed iron deficiency anaemia, seropositivity for ASCA, anti-transglutaminase antibody and HLA-DQ2. Upper GI endoscopy showed several ulcers in duodenal mucosa and an ulcerated stricture in D3; biopsies were taken and histopathology revealed transmural inflammatory chronic infiltrate, crypt loss and some areas of villous atrophy and intraepithelial lymphocytosis. The small bowel follow through confirmed 2 main strictures in duodenum and proximal jejunum. She was started on prednisolone, azathioprine and a gluten-free diet with an initial good response although relapse was detected one month later. In this last admission, parenteral nutrition was necessary due to her deteriorated nutritional state and she also started infliximab, with subsequent significant clinical and endoscopic improvement.

The authors developed a screening instrument to detect patients in need of complex care coordination at admission to a general hospital. On the basis of a series of risk factors for care complexity, the authors constructed a short, care complexity prediction instrument (COMPRI) and assessed its qualities. The COMPRI is an easily administered screening instrument that detects patients at risk for complex care needs for whom care coordination is indicated. COMPRI's predictive power exceeds all currently available case-mix instruments

BACKGROUND: A proportion of people with mental health problems require longer term care in a psychiatric or social care institution. However, there are no internationally agreed quality standards for institutional care and no method to assess common care standards across countries. We aimed to identify the key components of institutional care for people with longer term mental health problems and the effectiveness of these components. METHODS: We undertook a systematic review of the literature using comprehensive search terms in 11 electronic databases and identified 12,182 titles. We viewed 550 abstracts, reviewed 223 papers and included 110 of these. A "critical interpretative synthesis" of the evidence was used to identify domains of institutional care that are key to service users' recovery. RESULTS: We identified eight domains of institutional care that were key to service users' recovery: living conditions; interventions for schizophrenia; physical health; restraint and seclusion; staff training and support; therapeutic relationship; autonomy and service user involvement; and clinical governance. Evidence was strongest for specific interventions for the treatment of schizophrenia (family psychoeducation, cognitive behavioural therapy (CBT) and vocational rehabilitation). CONCLUSION: Institutions should...

Introdução: A prática desportiva moderada regular cursa com uma estimulação do sistema imunitário. Este efeito deixa de se fazer sentir quando o exercício tem cargas elevadas, quer em intensidade ou duração, havendo uma supressão das defesas imunitárias. A pneumonia adquirida na comunidade (PAC) é uma inflamação aguda do parênquima pulmonar de origem infecciosa adquirida em ambulatório, por indivíduos imunocompetentes, tendo como via de transmissão mais comum a inalatória. As pneumonias são, frequentemente, de causa viral ou bacteriana, e o Streptococcus pneumoniae é o agente etiológico mais frequente. Caso Clínico: Relatamos o caso de um atleta de triatlo, 43 anos, sexo masculino, previamente saudável, que dois dias após ter completado uma maratona, recorreu à urgência hospitalar por queixas de toracalgia direita, lipotímia, febre e dispneia. Os exames complementares de diagnóstico revelaram leucocitose com neutrofilia, PCR elevada, e PO2 de 64. Na radiografia de tórax: imagem de hipotransparência no lobo médio e inferior direito. Foi internado na Pneumologia com o diagnóstico de PAC. Iniciou terapêutica dirigida com ceftriaxone...

Atualmente, a percepção do cliente sobre os serviços de saúde é um factor motivador que afecta as decisões tomadas com vista à melhoria dos cuidados, havendo um foco nos cuidados centrados no cliente e na medição de resultados. Compreender a satisfação da criança e / ou família com os cuidados prestados é parte vital dos cuidados de enfermagem ao facilitar o desenvolvimento de estratégias na procura da excelência e da melhoria da qualidade (Latour, 2007), permitindo criar um ambiente colaborativo na unidade (Latour et al, 2009). A aplicação de escalas, validadas e fiáveis, podem contribuir para a aceitação da satisfação parental como um indicador de qualidade (Latour et al, 2009), essencial para a prestação de cuidados centrados na família. Compreendendo a importância da avaliação da satisfação parental com os cuidados de enfermagem, identificámos a necessidade de um instrumento específico ao contexto e sensível aos cuidados de enfermagem prestados na Unidade de Cuidados Intensivos e Especiais Neonatais e Pediátricos (UCIENP). Os estudos realizados sobre a satisfação dos pais nas UCIN’s relacionam a satisfação parental com a relação estabelecida com os enfermeiros e o apoio recebido...

As sociedades ao longo dos séculos têm sido atingidas por cataclismos e epidemias. Portugal e a sua capital Lisboa também não foi excepção, estas epidemias estavam associadas a outro flagelo o da fome e produziam sangrias demográficas, e demarcaram nas cidades o palco privilegiado para a encenação do seu espectáculo de horrores. Após uma curta perspectiva histórica da cidade de Lisboa faz-se analise de crises de sobre-mortalidade por epidemias, analisa-se a evolução mortalidade da tuberculose em Portugal desde o final do século XIX até 2008, e referenciam-se os dados de prevalência e incidência em 2008 em Portugal. Conclui-se que Portugal fez um longo caminho na luta antituberculosa, apesar dos progressos, os indicadores não permitem abrandar as medidas de combate à doença, dado que o nível endémico é ainda considerável, particularmente nos grandes meios urbanos. A tuberculose é ainda hoje uma emergência global, com 9 milhões de novos casos anuais no Mundo e 1,5 milhões de mortes, não obstante estarmos perante uma doença tratável e curável com um custo de menos de 20 euros por doente.

Ciclo de Cursos organizado pela Coordenação do Internato Médico do HFF EPE