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  • Clinical and Genetic Characterization of Portuguese Patients with Pseudohypoparathyroidism Type Ib
    Publication . Cavaco, B; Tomaz, R; Fonseca, F; Mascarenhas, MR; Leite, V; Sobrinho, L
    Patients with pseudohypoparathyroidism type Ib (PHP-Ib) present hypocalcemia and hyperphosphatemia, as a consequence of a resistance to PTH action, through its G-protein-coupled receptor, in the renal tubules. This resistance results from tissue-specific silencing of the G-protein alpha-subunit (G(s)α), due to imprinting disruption of its encoding locus--GNAS. In familial PHP-Ib, maternally inherited deletions at the STX16 gene are associated to a regional GNAS methylation defect. In sporadic PHP-Ib, broad methylation changes at GNAS arise from unknown genetic causes. In this study, we describe the clinical presentation of PHP-Ib in four Portuguese patients (two of whom were siblings), and provide further insight for the management of patients with this disease. The diagnosis of PHP-Ib was made after detection of GNAS imprinting defects in each of the cases. In the siblings, a regional GNAS methylation change resulted from a known 3.0 kb STX16 deletion. In the other two patients, the broad methylation defects at GNAS, which were absent in their relatives, resulted from genetic alterations that remain to be identified. We report the first clinical and genetic study of Portuguese patients with PHP-Ib. The genetic identification of a hereditary form of this rare disease allowed an early diagnosis, and may prevent hypocalcemia-related complications.
    2010-06Journal article Open access Show more
  • Efficacy of Narrowband UVB vs. PUVA in Patients with Early-Stage Mycosis Fungoides
    Publication . Ponte, P; Serrão, V; Apetato, M
    INTRODUCTION: Mycosis fungoides (MF) is a non-Hodgkin's T-cell lymphoma of the skin that often begins as limited patches and plaques with slow progression to systemic involvement. Narrowband ultraviolet (UV) B therapy has been proven to be an effective short-term treatment modality for clearing patch-stage MF. The effect of psoralen plus long-wave ultraviolet A (PUVA) in the treatment of patch- and plaque-type MF has also been thoroughly documented. OBJECTIVES: The purpose of this study was to compare the efficacy and safety of narrowband UVB and PUVA in patients with early-stage MF. METHODS: We analysed the response to treatment, relapse-free survival and irradiation dose in 114 patients with histologically confirmed early-stage MF (stage IA, IB and IIA). RESULTS: A total of 95 patients were treated with PUVA (83.3%) and 19 with narrowband UVB (16.7%). With PUVA, 59 patients (62.1%) had a complete response (CR), 24 (25.3%) had a partial response (PR) and 12 (12.6%) had a failed response. Narrowband UVB led to CR in 12 (68.4%) patients, PR in 5 (26.3%) patients and a failed response in 1 (5.3%) patient. There were no differences in terms of time to relapse between patients treated with PUVA and those treated with narrowband UVB (11.5 vs. 14.0 months respectively; P = 0.816). No major adverse reactions were attributed to the treatment. CONCLUSIONS: Our results confirm that phototherapy is a safe, effective and well-tolerated, first-line therapy in patients with early-stage cutaneous T-cell lymphoma, with prolonged disease-free remissions being achieved. It suggests that narrowband UVB is at least as effective as PUVA for treatment of early-stage MF.
    2010-06Journal article Open access Show more
  • The Management of the Allergic Child at School: EAACI/GA2LEN Task Force on the Allergic Child at School
    Publication . Muraro, A; Clark, A; Beyer, K; Borrego, LM; Borres, M; Lødrup Carlsen, KC; Carrer, P; Mazon, A; Rancè, F; Valovirta, E; Wickman, M; Zanchetti, M
    Allergy affects at least one-quarter of European schoolchildren, it reduces quality of life and may impair school performance; there is a risk of severe reactions and, in rare cases, death. Allergy is a multi-system disorder, and children often have several co-existing diseases, i.e. allergic rhinitis, asthma, eczema and food allergy. Severe food allergy reactions may occur for the first time at school, and overall 20% of food allergy reactions occur in schools. Up to two-thirds of schools have at least one child at risk of anaphylaxis but many are poorly prepared. A cooperative partnership between doctors, community and school nurses, school staff, parents and the child is necessary to ensure allergic children are protected. Schools and doctors should adopt a comprehensive approach to allergy training, ensuring that all staff can prevent, recognize and initiate treatment of allergic reactions.
    2010-06-01Journal article Open access Show more