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Ander Zulaica

Publications and source records attributed to Ander Zulaica.

4 recordsLinked to original sources
PubMed2006

Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E, p.W466X and c.1848delA. Discrepancies between genomic DNA and cDNA results when detecting this last deletion suggested a nonsense-mediated decay cell process (NMD).

Adult↗
PubMed2006

Multinucleate cell angiohistiocytoma. Report of five cases.

BACKGROUND: Multinucleate cell angiohistiocytoma is an infrequent and most likely non-neoplastic disorder usually seen in acral regions in elderly women. It presents clinically as asymptomatic red-to-brown tumors, with a tendency to confluence. It must be distinguished from other diverse cutaneous lesions, notably dermatofibroma, Kaposi sarcoma, and angiofibroma. METHODS: We report the clinical, histopathological, and immunohistochemical findings of five patients, all women aged between 51 and 78 years. All except the first presented lesions on both of the lower limbs. None of the patients developed spontaneous resolution of the lesions and one was successfully treated by cryosurgery. COMMENTS: Multinucleate cells are characteristic, but neither exclusive nor pathognomonic, of multinucleate cell angiohistiocytoma, since they can also appear in other inflammatory, neoplastic, or reactive processes. The presence of these cells and vascular proliferation in dermis media are the principal histopathological findings in this infrequent entity. In immunohistochemical studies, the multinucleate cells are often positive for vimentin and factor XIIIa.

Aged↗
PubMed2005

[Euromelanoma Day. Results of the 2000, 2001 and 2002 campaigns in Spain].

BACKGROUND: In the year 2000, the European Academy of Dermatology and Venereology initiated a campaign, called "Euromelanoma Day," for the early detection of melanoma. OBJECTIVE: To discuss the results of "Euromelanoma Day" in Spain for the campaigns carried out in 2000, 2001 and 2002. MATERIAL AND METHODS: Participating members of the Spanish Academy of Dermatology examined everyone who requested an appointment, free of charge, in order to detect suspicious lesions. Four months after the visit, telephone contact was made with all patients who had been diagnosed with suspected melanoma to ask them whether the lesions had been excised, and if so, the result of the histological study of the specimen. RESULTS: 33,750 calls to set up an appointment were received, and 12,487 patients were examined. The average participation by dermatologists was 399 academy members per year. A total of 164 lesions suspected of being melanoma were detected, above all in Andalusia and Catalonia, and the diagnosis was histologically confirmed in 31 cases. The clinicopathological correlation was 23.3 %, a higher figure than the one for the USA and similar to the one for Mediterranean countries. The average thickness of the tumors was 0.93 mm. CONCLUSIONS: Although these campaigns have the drawback of possible bias in the findings and may cause some degree of public alarm, the benefit to the population was unquestionable in terms of heightening awareness of a health problem.

Europe↗