1,720,991 research outputs found
Werner's syndrome: seven cases in one family.
No full text7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family
Familial multiple lipomatosis.
No full textA clinical study was made of 14 cases of multiple symmetrical lipomata in two families. There were 7 female and 7 male patients. In one family the members affected were observed in four generations. The disease set in during the third or fourth decade of life. The lipomata ranged in size from that of a pea to that of a hen's egg. They were limited to the forearms and trunk were asymptomatic
Topical Spironolactone Inhibits Dihydrotestosterone Receptors In Human Sebaceous Glands - An Autoradiographic Study In Subjects With Acne-vulgaris
No full textScintigraphic evaluation of Kaposi's sarcoma.
No full text10 patients with clinical and histopathological evidence of Kaposi's sarcoma were evaluated with 99Tcm-pertechnetate and 67Ga-citrate scintigraphs. Combined studies using these radionuclides are useful aids in investigating, detecting and following-up Kaposi's sarcoma and any associated lymphoma or other malignancies
[Changes in the biomechanic property of the skin after hemodialysis treatment].
No full textSkin extensibility in 21 subjects (belonging to two different age groups) undergoing hemodialysis has been investigated. Measurements have been performed on the forearm before and after two hours of dialytic treatment. A significant decrease of skin extensibility (P less than 0.02) has been recorded in the elderly prior to the dialytic procedure; the data is consistent with an increased dermal water content. Water removal during treatment led to normalization of extensometric levels (P less than 0.05). However, improvement of skin extensibility is not directly related to the amount of water withdrawn. The study support the importance of water in determining skin viscoelastic responses; hemodialysis is a useful model to monitor the effects of water on skin biomechanics
Palmoplantar keratoderma and Charcot-Marie-Tooth disease.
No full textA close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic studies were performed to define the two entities. Charco-Marie-Tooth disease occurred with advancing age in all of the members with PPK, but in none without PPK. Palmoplantar keratoderma and CMT appear to be genetically associated and transmitted as an autosomal dominant trait. This is the first report, to our knowledge, of an association between PPK and CMT
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