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Wassif S Wassif

Publications and source records attributed to Wassif S Wassif.

4 recordsLinked to original sources
PubMed2003

Primary hyperparathyroidism in the older person.

Primary hyperparathyroidism (PHPT) is a common condition which may have few symptoms. One of the principal concerns in the older person with minimally symptomatic PHPT is restoration of bone mineral density and prevention of fracture. Other important considerations are cardiovascular risk and quality of life. Surgery, the traditional treatment of choice, may not always correct these factors. We present a review of the literature and advice of medical therapies which should be of benefit, with emphasis on a multifaceted approach in protecting the patient from PHPT.

Aged↗
PubMed2002

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

BACKGROUND: Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder characterised by uni- or multiglandular parathyroid disease. A subset of families are likely to be genetic variants of other familial tumour syndromes in which PHPT is the main feature, for example multiple endocrine neoplasia type 1 (MEN 1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT). OBJECTIVE: To investigate seven families diagnosed with FIHP, each with two to eight affected family members, to clarify the underlying genetic mechanism. METHODS: The entire MEN1 gene was sequenced for germline mutations and, in addition, tumour specimens were analysed in comparative genomic hybridisation and loss of heterozygosity studies. RESULTS: Two families exhibited MEN1 mutations, L112V and 1658delG, which were associated with loss of the wild-type 11q13 alleles in all tumours analysed. In the remaining five families, no MEN1 mutation was identified. CONCLUSION: These results support the involvement of the MEN1 tumour suppressor gene in the pathogenesis of some of the FIHP kindreds. However, loss on chromosome 11 was seen in all tumours exhibiting somatic deletions, although in two families the tumour deletions involved 11q distal to MEN1. We conclude that the altered MEN1 gene function is of importance in the development of FIHP.

Adult↗