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Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature. Source

Aldir I.,Centro Hospitalar Of Lisbon Ocidental | Horta A.,Centro Hospitalar do Porto | Serrado M.,Centro Hospitalar Of Lisbon Norte
Current Medical Research and Opinion

Objectives: Review of the available data on the currently available single-tablet regimens (STRs), from the analysis of efficacy and safety to the key points of value in terms of adherence, quality of life and pharmacoeconomic evaluation. Methods: For this narrative review, literature searches have been performed in PubMed, IndexRevMed and Cochrane, using the search terms HIV, single-tablet, one-pill, single dose, fixed-dose, and STR. These have been reviewed and complemented with the most recent publications of interest. Results: Fixed-dose combinations are a significant advance in antiretroviral treatment simplification, contributing to an increase in compliance with complex chronic therapies, thus improving patients' quality of life. Reducing the number of pills and daily doses is associated with higher adherence and better quality of life. As a fixed-dose combination tablet given once daily, EFV/FTC/TDF was the first available STR combining efficacy, tolerability and convenience, with the simplest dosing schedule and smallest numbers of pills of any ART combination therapy. The RPV/FTC/TDF is a next-generation NNRTI-based STR, a once daily complete ART regimen for the treatment of HIV-1 infection. Recently the combination of EVG/COBI/FTC/TDF was also approved by the European Commission, and is the first integrase inhibitor-based STR. Receiving antiretroviral therapy as once daily STR is associated with both clinical and economic benefits, which confirms previous research. Conclusions: The associated benefits of STRs provide a valid strategy for the treatment of HIV-infected patients. © 2014 Informa UK Ltd. Source

Zeuzem S.,Goethe University Frankfurt | Jacobson I.M.,New York Medical College | Baykal T.,AbbVie | Marinho R.T.,Centro Hospitalar Of Lisbon Norte | And 15 more authors.
New England Journal of Medicine

BACKGROUND: In this phase 3 trial we evaluated the efficacy and safety of the interferon-free combination of ABT-450 with ritonavir (ABT-450/r), ombitasvir (also known as ABT-267), dasabuvir (also known as ABT-333), and ribavirin for the retreatment of HCV in patients who were previously treated with peginterferon-ribavirin. METHODS: We enrolled patients with HCV genotype 1 infection and no cirrhosis who had previously been treated with peginterferon-ribavirin and had a relapse, a partial response, or a null response. Patients were randomly assigned in a 3:1 ratio to receive coformulated ABT-450/r-ombitasvir (at a once-daily dose of 150 mg of ABT-450, 100 mg of ritonavir, and 25 mg of ombitasvir) and dasabuvir (250 mg twice daily) with ribavirin (1000 or 1200 mg daily) or matching placebos during the 12-week double-blind period. The primary end point was the rate of sustained virologic response 12 weeks after the end of study treatment. The primary efficacy analysis compared this rate among patients assigned to the active regimen with a historical response rate (65%) among previously treated patients with HCV genotype 1 infection and no cirrhosis who had received retreatment with telaprevir and peginterferon-ribavirin. RESULTS: A total of 394 patients received at least one study-drug dose. In the active-regimen group, 286 of 297 patients had a sustained virologic response at post-treatment week 12, for an overall rate of 96.3% (95% confidence interval, 94.2 to 98.4). This rate was noninferior and superior to the historical control rate. Rates were 95.3% among patients with a prior relapse (82 of 86 patients), 100% among patients with a prior partial response (65 of 65 patients), and 95.2% among patients with a prior null response (139 of 146 patients). Pruritus occurred more frequently with the active regimen (in 13.8% of patients) than with placebo (5.2%, P = 0.03). Three patients in the active-regimen group (1.0%) discontinued the study drugs owing to adverse events. Hemoglobin values of grade 2 (8.0 to <10.0 g per deciliter) and grade 3 (6.5 to <8.0 g per deciliter) occurred in 4.7% and 0.3% of patients in the active-regimen group, respectively. CONCLUSIONS: Rates of response to a 12-week interferon-free combination regimen were more than 95% among previously treated patients with HCV genotype 1 infection, including patients with a prior null response. Copyright © 2014 Massachusetts Medical Society. Source

Polido-Pereira J.,University of Lisbon | Vieira-Sousa E.,University of Lisbon | Fonseca J.E.,University of Lisbon | Fonseca J.E.,Centro Hospitalar Of Lisbon Norte
Autoimmunity Reviews

Despite the enthusiastic progresses in the field of rheumatoid arthritis pharmacotherapy the presence of prognostic factors associated with an unfavorable outcome and the inappropriate and/or delayed initiation of DMARDs can diminish the likelihood of achieving remission and increase the probability of refractoriness to treatment.During the last decade we have experience exciting developments regarding the approval of new treatment options but few patients are reaching sustained remission and refractory patients continue to be a problem. Thus, it is critical to understand how clinicians can decrease the risk of refractoriness by close monitoring disease activity, using well defined and accepted composite measures, and by early and optimized use of DMARDs, including biologics.The goal of this review paper is to offer an evidence based roadmap to prevent and to deal with refractory RA. © 2011. Source

Joao C.,Instituto Portugues Of Oncologia Of Lisbon | Figueiredo A.,Centro Hospitalar Of Lisbon Norte | Martins H.F.,Centro Hospitalar Of Lisbon Norte
Current Opinion in Oncology

Purpose of review: Although multiple myeloma remains an essentially incurable disease, treatment options and patients' quality of life have improved over the last years with the introduction of more effective and less toxic agents. Therapy should be tailored to the clinical circumstance of each patient under consideration of factors such as patient age, comorbidities (e.g. history of renal failure, thromboembolism or neuropathy) and performance status. Recent findings: This article presents three Portuguese clinical cases, illustrating the efficacy and good tolerability profile of lenalidomide in combination with dexamethasone, especially when used as second-line therapy. In particular, these cases illustrate the benefit of using such combinations in patients previously treated with thalidomide as well as patients with peripheral neuropathy or renal impairment. Finally, the last case highlights the importance of timely administration of effective thromboembolism prophylaxis in the presence of prothrombotic risk factors. Summary: These cases are discussed in light of the current knowledge of achieving the best quality of life for the patients, while minimizing myeloma burden and improving existing organ damage due to either the presence of multiple myeloma or to previous therapies. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins. Source

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