PubMed Health⌕ Search

Biomedical subjects

G Pini

Publications and source records attributed to G Pini.

35 records · Page 2Linked to original sources

Rett syndrome in northern Tuscany (Italy): family tree studies.

Four cases of Rett syndrome were ascertained among 19,060 girls born between 1978 and 1990 in a small, defined area of Northern Tuscany (Italy) (prevalence rate of 2.1 per 10,000). A fifth girl with a reported clinical picture of Rett syndrome, born in 1978 and deceased at age 13, was also found. One of the four Rett syndrome cases had a healthy female dizygote twin. Family tree studies going back as far as the 17th century were performed. A number of common ancestors were found in different generations leading to a single family tree encompassing all four Rett syndrome cases. In addition, a Rett girl with preserved speech, born in 1974, was found as part of this family tree. These observations confirm the role of genetic factors in the etiology of Rett syndrome and support the hypothesis that Rett syndrome is a clinically variable phenotype.

Adolescent↗

Cerebellar involvement in hypomelanosis of Ito.

Hypomelanosis of Ito (HI) (incontinentia pigmenti achromians) with cerebellar atrophy and dysmorphic features is reported in a child. The association of cerebellar anomalies and HI has been previously reported in only four cases. However, since neuroimaging studies are not routinely obtained in these patients the frequency of this association might have been underestimated. In cases of otherwise unexplained cerebellar ataxia an examination of the skin with Wood's lamp should be performed since the typical hypopigmented lesions can be hardly visible in natural light.

Adolescent↗

[Evaluation of the analgesic activity of a new ketoprofen-sucralfate combination].

The Authors reported a therapeutic antalgic trial carried out on 50 patients, affected with head-ache, tooth-ache, menstrual pain, muscular and rheumatic pains. They were treated with tablets with ketoprofen covered by sucralfate compared with ASA tamponed tablets for 6 days. Results show that the therapeutic activity of the two drugs is substantially the same, but ketoprofen with sucralfate gastroprotection reports a very good tolerability.

Adolescent↗

Scanning electron microscopic pattern of recurrent vaginitis by Candida albicans in the mouse.

The scanning electron microscopic pattern of the development of yeasts of Candida albicans on the vaginal mucosa of mice in oestral phase, was studied in four consecutive infections performed at 30 d intervals. The findings were practically identical following the 1st and 2nd infections, evidencing a progressive mycelial development starting from 12 to 72 h after inoculation with C. albicans yeasts. In the 3rd and 4th infections the mycelial tufts appeared extremely reduced in number and size, although there was an acceleration in the early evolutive phases and the filamentation process had already started 6 h after infection. It can be concluded that, after successive infections with C. albicans, mouse vaginal mucous membrane develops a local state of resistance evidenced by the decrease in mycelial tufts. The possible causes of the early onset of the filamentation process are discussed.

Animals↗

In vivo tests for antimycotic drugs.

Authors emphasize the pathogenetic importance of fungous dimorphism and its consequence in the usefulness of antimycotic drugs. For the study of drugs' activity on C. albicans, two models for the evaluation on yeast or mycelial form were developed. The first model is of candida growth on an animal cell culture, where a good mycelial form develops during the first 24 hours: authors demonstrated a synergism of the amphotericin B-rifampin combination, which is less evident in the traditional in vitro tests, and some activity of tolcyclate. The second model is an intracutaneous injection in the guinea pig of C. albicans, which quickly develops in the mycelial form, infiltrating the skin layers. Some interesting differences were recorded, comparing amphotericin B and ketoconazole. Moreover the authors used a therapy test in mice, based mainly on examination of the kidney.

Amphotericin B↗

[Malignant melanoma of the small intestine].

Three patients with intestinal metastases from a malignant melanoma are presented. The pathological and clinical findings are reviewed. The symptoms are variable , but usually include unexplained anemia, gastrointestinal bleeding, abdominal pain and intestinal obstruction. X-ray examination of gastrointestinal tract can reveal multiple metastatic lesions with so-called typical "Bull's eye" sign. Surgical excision is indicated and extended survival due to improved chemotherapy and immunotherapy is stressed.

Aged↗

[Surgical treatment of hiatal hernia in adults. Indications, technical and tactical considerations on 310 operated cases].

On the basis of 310 cases of hiatal hernia surgically treated, the anatomical, pathophysiological and clinical aspects are reviewed together with their surgical consequences. In rolling type hernia, gastroesophageal reflux and its sequelae do not occur: the treatment is based only on reduction and suture of the fundus to the undersurface of the diaphragm with repair of right crus. In sliding hiatal hernia the purpose of operation is functional one, that is satisfactory and lasting control of gastro-esophageal reflux. With one exception, the fundamental step of all successful procedures of repair is the creation of restoration of an infradiaphragmatic segment of esophagus: it puts the lower esophageal sphincter into the abdominal cavity with restoration of gastroesophageal competence.

Adult↗

Anti-Malassezia furfur antibodies in the population.

The authors carried out research into anti-Malassezia precipitating antibodies in the population, specifying the distribution by age and sex. A total of 868 serum specimens from subjects of both sexes, aged between 0 and 80 years, were studied. An immunoelectroprecipitation reaction was used using a M. furfur culture filtrate as antigen. No antibodies were found in children under 11 years, whereas they were present after that age and reached maximum frequency in subjects between 31 and 40 years of age. In subjects up to 50 years of age they were more frequent in women, but in subjects over the age of 50 years they were more frequent in men. Globally, antibodies were found in 31% (270/868) of the subjects examined. The presence of antibodies correlates with data from the literature regarding the isolation of this yeast in relation to age.

Adolescent↗

[Aneurysms of the visceral arteries: report of 5 cases].

Visceral artery aneurysms are uncommon and usually result from atherosclerosis, periarteritis nodosa and fibromuscular dysplasia. Hepatic artery aneurysms were detected in two patient, splenic artery aneurysms in three. In four patients rupture occurred. In the two patients with hepatic artery aneurysm hemobilia from arterial rupture into the common bile duct and intraperitoneal bleeding in lesser sac was assessed. Ruptured aneurysms of the splenic artery with free intraperitoneal bleeding occurred in two patients, one patient had an asymptomatic splenic artery aneurysm. In four patients the diagnosis was made by contrast-TC and/or celiac and mesenteric angiography. In four patients excision of the aneurysm was successfully performed. One patient with ruptured hepatic artery aneurysm and in which resection and revascularization was made died.

Adult↗

[Clinical and functional results after restorative proctocolectomy with ileal J reservoir in the treatment of ulcerative colitis].

PURPOSE: Restorative proctocolectomy is the procedure of choice in the treatment of ulcerative colitis. The operation is successful in removing all diseased mucosa while preserving a normal bowel function and a good quality of life for the patient. In this article are presented the clinical and functional results obtained in 28 patients, 19 males (68%) and 9 females (32%) after stapled restorative proctocolectomy with ileal J pouch-anal anastomosis. RESULTS: There were no perioperative deaths. The overall morbidity rate was 31%. Six patients (21%) presented pelvic abscess; 2 (7%) pelvic hematoma, 4 patients (14%) ileo-anal anastomotic stricture, 1 patient (3.6%) pouch-vagina fistula, three patients (11%) intestinal obstruction and 7 (25%) pouchitis. All patients were able to evacuate their pouches spontaneously. The mean bowel movements were 6-9/24 hours at the first postoperative month and 3-5/24 hours at the sixth month. Infrequent nocturnal seepage occurred in 6 patients (21%). Stool consistency returned to normal within 3-6 months. The mean pouch capacity was 210 cc. The mean resting pressure was diminished in 11 patients (39%), the men and maximal squeeze pressures were improved in 9 (32%); the ileo-rectal-anal inhibitory reflex was normal in 5 patients (18%), not defined in 12 (43%). Impotence or impaired bladder function was not present. CONCLUSION: The use of staplers in the surgical technique of restorative proctocolectomy with J shaped ileo-anal pouch is associated with low morbidity and better long-term results. The procedure requires a good selection of patients, a correct surgical timing, a very carefully technique and a low pre and postoperative treatment with steroids.

Adult↗

[Short bowel syndrome: etiologic, pathogenetic aspects and principles of treatment].

A significant problem in surgery following massive intestinal resection is the short bowel syndrome characterized by severe fluid and electrolyte loss, watery diarrhoea and malnutrition. Total parenteral nutrition and enteral nutrition are essential in the clinical course of the syndrome; their use for prolonged periods results in the gradual intestinal adaptation and greater absorptive and reservoir capacities of the intestinal remnant. Adjunctive surgery can slow rapid intestinal transit and induce growth of neo-small-bowel mucosa but is not recommended for routine use. The early results of intestinal transplantation in the treatment of short bowel syndrome are encouraging. Furthermore chronic rejection and systemic sepsis with failure of the graft must be considered and indicate that at present this procedure cannot be offered to every patient but will be a potential form of therapy in future.

Adult↗