Biomedical subjects
Publications and source records attributed to D R Katz.
Paget's disease involves the ducts of apocrine glands and the overlying epidermis and is considered to be locally neoplastic. It is capable of developing into invasive carcinoma and in this event the prognosis is poor. The perianal skin may be affected by Paget's disease. This is a rare disorder and the four patients who have been seen with this disease at St Mark's Hospital since 1930 are described.
A bronchogenic tumor was removed from a 12-year-old girl. Histology showed a clear cell lesion with electron microscope features compatible with serous acinic cell origin.
A 49-year-old man developed a tumour mass in his right parotid salivary gland nine years after a histologically proven benign mixed tumour of the same salivary gland had been surgically removed. Radical resection of the right parotid salivary gland and associated lymph nodes and soft tissues of the neck was performed. The parotid tumour was composed of oncocytic cells which infiltrated the surviving salivary gland tissue. Most of the excised lymph nodes contained metastatic deposits of oncocytic cells identical to the tumour seen in the parotid. There are no previous reports of the occurrence of both pleomorphic adenoma and malignant oncocytoma in the same salivary gland.
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PURPOSE: To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase. METHODS: Mutations were identified by direct solid phase sequencing. RESULTS: Two novel missense mutations E80G and T78P and three previously reported mutations, R173W, G111R, and the splice site lesion, IVS1+1, were detected, each in an unrelated proband. The causality of the novel missense mutations was demonstrated by expression studies. CONCLUSION: These findings provide for the precise diagnosis of carriers in these families and further expand the molecular heterogeneity of AIP.