Avaliação e Tratamento do Doente com Acne - Parte I: Epidemiologia, Etiopatogenia, Clínica, Classificação, Impacto Psicossocial, Mitos e Realidades, Diagnóstico Diferencial e Estudos Complementares

O Portuguese Acne Advisory Board (PAAB), grupo de dermatologistas portugueses que, à semelhança de grupos congéneres internacionais, tem dedicado particular atenção à definição de linhas de orientação para o tratamento da acne, pretende que o presente documento constitua uma ferramenta útil na abordagem dos doentes com esta patologia. Elaborou-se um dossier, para educação médica contínua, subdividido em 2 partes: Parte I – etiopatogenia e clínica; Parte II – abordagem terapêutica. Nesta Parte I, revêem-se os principais aspectos da clínica e da fisiopatogenia da acne à luz dos conhecimentos actuais. Discute-se a importância do impacto psicológico e social desta entidade e analisam-se os principais mitos e realidades com ela relacionados. Descrevem-se, sucintamente, as patologias mais relevantes no diagnóstico diferencial das lesões de acne. Enumeram-se as indicações para estudo hormonal, bem como os exames a efectuar nos doentes com esta patologia.

Effects of a Shortage of Imiglucerase on Three Patients with Type I Gaucher Disease

Background: Children with Gaucher disease type I (GD1) are usually treated with enzyme replacement therapy (ERT) at a dose of 30-60U/Kg/2W. Recently, due to an acute shortage supply of imiglucerase, a reduced dose or a reduced infusion frequency was recommended. Objective: To evaluate the effects of a reduced infusion frequency of imiglucerase over 15 months of follow-up. Patients and Methods: Three patients (1M:2F) were treated with ERT since a median age of 7 years (range 5-12). Only one had bone crisis and Erlenmeyer deformations. Median duration of treatment before dose reduction was 3 years (range 1-8). ERT resulted in total regression of symptoms, normalization of hematological parameters and progressive improvement of chitotriosidase in all patients. In August 2009 infusion schedule was changed from a media 45U/Kg every two weeks to every four weeks. Results: All patients remained asymptomatic and with no major change on hematological parameters except for the patient with bone crisis who presented subnormal platelet count. All patients showed an upward trend in chitotriosidase values. Comments: Although a longer follow-up is needed, is probable that even children completely stabilized can probably not be kept on lower doses even though the reduction of frequency of the infusions represent a lower social burden.

Peritubular Capillaries C4d Deposits in Renal Allograft Biopsies and Anti HLA I/II Alloantibodies Screening. Incidence and Clinical Importance

Aim: To characterise clinically the patients with C4d in peritubular capillaries deposits (C4dPTCD) and/or circulating anti-HLA class I/II alloantibodies. To determine the correlation between positive C4dPTCD and circulating anti-HLA class I/II alloantibodies during episodes of graft dysfunction. Subjects and Methods: C4d staining was performed in biopsies with available frozen tissue obtained between January 2004 and December 2006. The study was prospective from March 2005, when a serum sample was obtained at the time of biopsy to detect circulating anti-HLA class I/II alloantibodies. Results: We studied 109 biopsies in 86 cadaver renal transplant patients. Sixteen of these (14.7%) presented diffuse positive C4dPTCD. There was a 13.5% rate of +C4dPTCD incidence within the first six months of transplantation and 16% after six months (p>0.05). Half of the +C4dPTCD in the first six months was associated with acute humoral rejection. After six months, the majority of +C4dPTCD (n=7/8) was present in biopsies with evidence of interstitial fibrosis/tubular atrophy and/or transplant glomerulopathy. The C4dPTCD was more frequent in patients with positive anti-HCV antibodies(p<0.0001), a previous renal transplant (p=0.007), and with a panel reactivity antibody (PRA) ≥ 50%(p=0.0098). The anti-HCV+ patients had longer time on dialysis (p=0.0019) and higher PRA(p=0.005). Circulating anti-HLA I/II alloantibodies were screened in 46 serum samples. They were positive in 10.9% of samples, all obtained after six months post transplant. Circulating alloantibodies were absent in 92.5% of the C4d negative biopsies. Conclusion: We found an association between the presence of C4dPTCD and 2nd transplant recipients,higher PRA and the presence of anti-HCV antibodies. The presence of HCV antibodies is not a risk factor for C4dPTCD per se, but appears to reflect longer time on dialysis and presensitisation. In renal dysfunction a negative alloantibody screening is associated with a reduced risk of C4dPTCD (<10%).

A Communication Intervention for Training Southern European Oncologists to Recognize Psychosocial Morbidity in Cancer. I - Development of the Model and Preliminary Results on Physicians' Satisfaction

BACKGROUND: The detection of psychosocial distress is a significant communication problem in Southern Europe and other countries. Work in this area is hampered by a lack of data. Because not much is known about training aimed at improving the recognition of psychosocial disorders in cancer patients, we developed a basic course model for medical oncology professionals. METHODS: A specific educational and experiential model (12 hours divided into 2 modules) involving formal teaching (ie, journal articles, large-group presentations), practice in small groups (ie, small-group exercises and role playing), and discussion in large groups was developed with the aim of improving the ability of oncologists to detect emotional disturbances in cancer patients (ie, depression, anxiety, and adjustment disorders). RESULTS: A total of 30 oncologists from 3 Southern European countries (Italy, Portugal, and Spain) participated in the workshop. The training course was well accepted by most participants who expressed general satisfaction and a positive subjective perception of the utility of the course for clinical practice. Of the total participants, 28 physicians (93.3%) thought that had they been exposed to this material sooner, they would have incorporated the techniques received in the workshop into their practices; 2 participants stated they would likely have done so. Half of the doctors (n = 15) believed that their clinical communication techniques were improved by participating in the workshop, and the remaining half thought that their abilities to communicate with cancer patients had improved. CONCLUSIONS: This model is a feasible approach for oncologists and is easily applicable to various oncology settings. Further studies will demonstrate the effectiveness of this method for improving oncologists skills in recognizing emotional disorders in their patients with cancer.

Tension-Free Vaginal Tape (T.V.T) - Nova e Revolucionária Técnica para o Tratamento Cirúrgico da Incontinência Urinária de Esforço (I.U.E.) Feminina Introduzida na MAC pelo Núcleo de Ginecologia Urológica

Este artigo pretende fazer uma revisão de uma das últimas e inovadoras alternativas cirúrgicas viáveis para a cura da incontinência urinária de esforço feminina, com um sucesso superior a 86%. É uma cirurgia mini invasiva e que induz um suporte da uretra média livre de tensão, muito eficaz. Tem vantagens, poucas complicações, curto tempo operatório e benefícios para a doente no pós-operatório imediato e tardio.

Anemia Congénita Diseritropoiética Tipo I. Um Caso Clínico Raro de Anemia

Os autores descrevem um caso clínico raro de anemia congénita diseritropoiética tipo I numa adolescente de 15 anos, em que só as alterações morfológicas da medula óssea e os testes serológicos (hemólise ácida, aglutinação anti-I e anti-i) permitiram o diagnóstico. O estudo familiar efectuado foi negativo. Atendendo a raridade destas anemias hereditárias são discutidos alguns dos seus aspectos.

Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

Marcadores de Superfície nos Processos Neoplásicos B.I - As Neoplasias Com Baixa Densidade de Imunoglobulina de Superfície

Descrevem-se nove casos de processos neoplásicos de células B, com baixa densidade de Ig da membrana. Em todos estes casos se observa uma alta percentagem de MRFC e a presença de antigénios da classe II do MHC. Dos nove doentes apresentados, oito têm um quadro clínico e laboratorial típico de LLC e um tem um quadro compatível com uma LLC na sua fase inicial. A identificação dos isotipos da Ig de membrana sugere que a transformação neoplásica na LLC pode ocorrer em diferentes estádios de diferenciação do linfócito B. A expressão simultânea de três marcadores de superfície (baixa densidade de 1g. MRFC e Ia) e a sua estreita correlação com a LLC — B, evidencia a sua utilidade no diagnóstico da doença.

Morfologia e Padrões Vasculares em Dermatoscopia - Parte I. Princípios Básicos

A dermatoscopia constitui uma técnica de diagnóstico não-invasiva, in vivo, que permite complementar a observação clínica de lesões cutâneas não-pigmentadas de etiologia diversa. Nos tumores cutâneos não-pigmentados, a dermatoscopia facilita a observação de estruturas vasculares, aumentando a acuidade no seu diagnóstico, distinguindo tumores melanocíticos e não-melanocíticos, benignos e malignos. Na parte I deste artigo são discutidos os princípios básicos da avaliação dermatoscópica dos tumores cutâneos não-pigmentados, incluindo a morfologia vascular e os padrões de distribuição dos vasos, assim como de outras pistas adicionais.

Avaliação do Ensino da Neonatologia I no Internato Complementar de Pediatria Médica do Hospital Dona Estefânia - Uma Experiência

O objectivo geral do estágio de Neonatologia (Iª parte) integrado no internato complementar de Pediatria Médica é proporcionar ao interno, em regime tutelado, as oportunidades de prática clínica para a resolução dos problemas correntes do recém-nascido saudável ou com patologia não requerendo terapia intensiva. Em educação médica torna-se fundamental proceder, não só à avaliação da aprendizagem dos formandos, mas também à avaliação, pelos próprios formandos, do treino ministrado pelos formadores. Utilizando um inquérito anónimo integrando 15 questões de resposta aberta e entregue aos internos (n=30) para preenchimento no último dia do estágio, procurámos, ao longo de um período de 7 1/2 anos conhecer as impressões daqueles sobre a formação que lhes fora propiciada, tendo cada parâmetro sido cotado de 1 a 10 pontos. Relativamente à impressão geral/organização e apoio dado pelos orientadores, foram obtidas médias respectivamente de 9,2 e 9,3. Quanto à impressão do estágio por sectores, as pontuações médias oscilaram entre 7,4 (bloco de partos) e 9,1 (sector de cuidados especiais). No que respeita ao período no bloco de partos, o aspecto mais negativo relacionou-se com as oportunidades perdidas para aquisição de competência em entubação traqueal. As acções de formação mais cotadas foram a discussão de casos clínicos (média: 8,6). Conclui-se que os internos consideraram globalmente o estágio relevante (média: 9,3), registando-se a mais baixa satisfação no âmbito do treino propiciado no bloco de partos. Quanto a sugestões, ressalta a que se relaciona com o alargamento do período do estágio.

Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotypes Associated with Upregulated Type I Interferon Signaling

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer a gain-of-function - so that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.