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Gaucher disease and Lupus: a rare association?

Jerónimo, Teresa; Cabrita, Ana; Pimentel, Ana; Vidinha, Joana; Fragoso, Andre; Santos, Viriato; Bernardo, Idalecio; Viana, Helena; Carvalho, Fernanda

Gaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, ...


Lung caught in Nilutamide treatment

Lourenço, Eva Patrícia; Nzwalo, Hipólito; Sampaio, Mário Rui; Brito, Helena

An 86-year-old male patient was attended with dyspnoea for 2 weeks, with progressive worsening, dry cough and decreased appetite. He had a personal history of prostate cancer diagnosed 2 years before and dyslipidaemia. He denied smoking history, exposure to inhaled toxic substances or family history of chronic lung disease. The patient was receiving treatment with rosuvastatin 10 mg and nilutamide 150 mg which ...


BACTERIAL POPULATION ISOLATED IN OVER-INFECTED CHRONIC LEG ULCERS – CHARACTERIZ...

Tavares, Ermelindo; Brito, Helena; Parente, Joana; Pinto, Paula; Martins, César

Introduction: The chronic leg ulcers (CLU) are frequent reasons for indiscriminate antibiotics prescribing which has contributed to increase the bacterial resistance to many drugs. Objective: Retrospective characterization of the bacterial population and antimicrobial susceptibility profile in patients with CLU admitted between 2007 and 2011 (5 years). Methods: Review of clinical charts and statistical study of...


Internists and Autoimmune Diseases: the Portuguese National Registry

Tribolet de Abreu, Tiago; José Silva, Nuno; Portelinha, Deolinda; Santos, Eugénia; Brito, Helena; Barros, Maria João; Barbosa, Paulo; Campos, Luís

Background: The clinical variability and the diagnostic diffi culty inherent to all autoimmune diseases leads to their frequent diagnosis and treatment by Internal Medicine specialists. Although it is known that many Portuguese internists work in this fi eld, the real dimension of this activity is unknown.Methods: An inquiry was sent by mail to the 118 Internal Medicine departments registered in the Portuguese ...


Artrite reumatóide - Experiência de uma consulta de Medicina Interna num Hospit...

Brito, Helena; Pereira, Augusta; Gomes, Eurico

The authors performed a retrospective study of rheumatoid arthritis files from the outpatients cli­nic of Internal Medicine of Faro Regional Hospital between 1991 and 1994. The parameters that had been analyzed were: sex, age, clinicai manifesta­ tions, medical treatment and clinicai course. The female sex was predominant (73,3%) and the average age of the group was 56 years. All the pati­ents presented articul...


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