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Biomedical subjects

A Montagnani

Publications and source records attributed to A Montagnani.

At least 19 recordsLinked to original sources

Proteus syndrome. Ultrastructural study of linear verrucous and depigmented nevi.

Proteus syndrome is a rare hamartomatous disorder characterized by multifocal overgrowths that can involve any structure of the body. Clinical manifestations include macrodactyly, hemihypertrophy, subcutaneous masses, exostosis, cerebroid thickening of palms and soles, and linear skin lesions. About 50 cases have been described, but the ultrastructural features of the linear skin lesions have not been characterized. We describe the clinical, histologic, and ultrastructural findings for a 30-year-old patient who had a mild form of Proteus syndrome with linear lesions characterized by a mixed pattern of hyperkeratosis and depigmentation. Light microscopy of the linear nevus showed acanthosis and hyperorthokeratosis. Electron microscopy revealed extensive vacuolation at the interface between melanocytes and keratinocytes, with large aggregations of densely packed granules in the intercellular space. Melanocytes showed only slight degenerative changes. An immunohistochemical study of the expression of epidermal growth factor receptors revealed no significant abnormalities.

Adult

Erythrocyte antioxidant system in Down syndrome.

It has been emphasized that an increased oxidative damage can exist in Down syndrome (DS), and that superoxide dismutase (SOD-1) seems to play a role in the pathogenesis of this disorder. We have studied the antioxidant system SOD-1, catalase, glutathione peroxidase (GSH-Px) and reduced glutathione (GSH) in erythrocytes of DS adults in order to evaluate if these cells are protected against oxidant stress. SOD-1 and GSH-Px were significantly increased while catalase and GSH activities were normal. These results suggest that the erythrocytes of these individuals have an unbalanced antioxidant system which may participate in the manifestations of DS.

Adolescent

Polymorphism of the locus CHE1 of pseudocholinesterase in Italy.

A sample of the Italian population was investigated to determine the CHE1*u, CHE1*a and CHE1*f allelic variants at the polymorphic locus CHE1 for the serum cholinesterase enzyme. We examined 4051 serum samples from schoolchildren of Milan and estimated the following allelic frequencies for the CHE1 locus: CHE1*u = 0.9636; CHE1*a = 0.0263; CHE1*f = 0.0101. These allelic frequencies are compared with those from other Italian, European, North African and Middle-Eastern countries. Our study confirms the validity of Garry's method in discriminating between the "usual" genotype and the "atypical" and "fluoride-resistant" ones.

Adult

Cytoskeleton and extracellular matrix of cutaneous vessels in inflammatory processes: immunomorphological study.

In pathological conditions, vascular modifications occur in various stages involving both vessel structure and adjacent extracellular matrix. The relationships between vascular cells and surrounding microenvironmental stroma are mediated by cytoskeleton. Our investigation showed a high number of vimentin- and actin-positive cells in the vascular cutaneous bed, mainly related to reactive vascularization phenomena, whereas vessel cells with a desmin-positive reaction were barely detectable. Furthermore, in newly formed vessels ultrastructure showed that basement membrane synthesis strictly depends on close contact between the endothelium and extracellular matrix. Our data give structural evidence of the close morphofunctional interactions existing between vascular cells and extracellular matrix.

Actin Cytoskeleton

Ketoconazole treatment of chronic mucocutaneous candidiasis.

The authors report the results of treatment with ketoconazole in 8 patients with chronic mucocutaneous candidiasis (CMC). The drug, administered in the dose of 200 mg once a day orally for a period of time varying from 2 to 12 months, led to improvement in or elimination of clinical symptoms in all patients. One patient had a relapse on suspension of treatment, but this regressed rapidly on resumption of ketoconazole. In 7 cases there were no side-effects. In one case there was an increase in serum liver enzymes which disappeared spontaneously 7 days after suspension of treatment. These results appear encouraging in view of the difficulty of treating this disease, which is often resistant to conventional antifungal therapy.

Adolescent

[A family with the EEC syndrome (ectrodactily, ectodermal dysplasia clefting syndrome): clinical variability and genetic counseling].

In a family with segregation of EEC-Syndrome we observed five children--two girls and three males--(two of them dizygotic twins) affected by very various phenotypes of the syndrome. The ocular symptomatology was represented by agenesis or stenosis of lacrimal ducts: two children were operated, the other suffered from frequent inflammations. The study of the family suggest an autosomic dominant heredity with defect of penetrance on the father.

Abnormalities, Multiple

Diabetes mellitus and skin diseases in childhood.

The skin diseases observed in 41 children affected by type-1 diabetes and in 1,273 children unaffected by diabetes were compared to evaluate the dermatoses that are associated to type-1 diabetes. A high prevalence of vitiligo, psoriasis and herpes simplex infections was found in diabetics. These data are confirmed by statistical comparison.

Child

Preliminary results of a clinical trial relative to the use of rifamycin SV in the treatment of herpes zoster.

In a controlled clinical trial undertaken in ten Italian centres, rifamycin SV was compared to associations of various drugs such as erythromycin, aureomycin, multivitamin preparations, etc, in the treatment of herpes zoster. Up to now 144 patients, suffering from herpes zoster at different localizations, were divided into three groups and randomly given either rifamycin SV by intramuscular injection and topically, or rifamycin SV by injection only, or the routine treatment used at the particular centre in question. To evaluate the effectiveness of the treatments, the presence of subjective and objective symptoms was determined before treatment started and daily thereafter. The duration, in days, of the most important symptoms, such as erythema, vesicles, scabs and pain, was considered for this partial evaluation. All the above-mentioned symptoms constantly showed a shorter duration in the two groups treated with rifamycin SV compared to the group treated with other therapies, with differences as significant on statistical calculation as they were important on the level of a clinical evaluation of the disease's course.

Administration, Topical

Hematuria and rectal bleeding in the child with Klippel and Trenaunay syndrome.

We have operated upon 588 patients with Klippel and Trenaunay syndrome. The underlying factor is a congenital malformation of the deep veins: agenesis, atresia or compression by fibrovascular bands of the popliteal, femoral or iliac veins. Of these 588 patients, 6 children between 15 months and 4 years of age had severe rectal bleeding and hematuria. One of these children died from massive bleeding of the rectum with septicemia. Another boy was saved by rectal resection and the last one by subtotal cystectomy. The important venogram shows an absence of the anterior venous pathway (superficial femoral vein) compensated by the abnormal development of 2 venous groups, the vein of the sciatic nerve and large veins along the external aspect of the inferior limb. These 2 venous groups penetrate into the pelvis by the sciatic and gluteal notches and terminate in the internal iliac vein which becomes enormous and has a very high flow. This overflow hinders drainage of the venous collateral from the rectum, the bladder and the vagina. The retro adductor vein, prolongated by the deep femoral vein, represents an anastomosis between the sciatic nerve vein and the common femoral vein. The surgeon must try to widen this pathway.

Adolescent