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Biomedical subjects

M Giovannini

Publications and source records attributed to M Giovannini.

At least 199 records · Page 11Linked to original sources
PubMed1994

EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations.

We have determined the frequency of EWS fusion transcripts in a series of primary Ewing's sarcomas and peripheral primitive neuroectodermal tumors and cells lines. Type 1 and 2 EWS-Fli1 fusions were demonstrated in 8 cell lines and 14 patient samples. Five patients with cytogenetically characterized rearrangements of chromosome 22 that did not involve chromosome 11 were included in these studies. A novel EWS-Fli1 in-frame isoform fusing EWS to exon 8 of Fli1 was isolated from a tumor with a variant t(12;22;22)(q14;p1;q12) translocation. Three in-frame isoforms of a novel hybrid transcript derived from the fusion of EWS with the ETS domain of the human erg gene were identified in patient samples and a cell line with cytogenetically unidentified or cryptic translocations involving chromosomes 21 and 22. Interphase analysis by fluorescent in situ suppression hybridization using two overlapping erg yeast artificial chromosome clones demonstrated disruption of the erg gene on chromosome 21 in a patient sample with monosomy 22. Our results provide new information about the involvement of EWS in small round cell tumors involving exchange of its putative RNA-binding domain with DNA-binding domains derived from different members of the ETS family of transcription factors. These studies emphasize the utility of reverse transcriptase PCR analysis and fluorescent in situ hybridization as additional diagnostic tools for differential diagnosis among small round cell tumors.

Adolescent↗
PubMed1994

[Primary cardiac lymphoma with obstructive cardiac insufficiency].

A 80 year old man, in general good health, presented with a rapidly progressive congestive heart failure, without response to treatment. At echocardiography, there were masses in the right atrium and ventricle. The patient deceased two months after the first clinical manifestations. At autopsy, we found a massive right-sided atrio-ventricular infiltration by a malignant non-Hodgkin's lymphoma of centroblastic type, causing a subtotal obstruction of the tricuspid and pulmonary valves. We observed also four intestinal metastases without other manifestations of lymphoma.

Aged↗
PubMed1994

[5-fluorouracil, high dose folinic acid and mitomycin C in the treatment of advanced digestive cancers].

Thirty five patients presenting with advanced unresectable digestive tract cancers were treated with high-dose folinic acid (200 mg/m2/d, i.v. bolus) followed by 5-fluorouracil (400 mg/m2 i.v. bolus) on day 2 of uneven courses (day 2, day 58, day 114...). There were 20 colorectal cancers, nine gastric cancers, two oesophageal cancers, two cholangiocarcinomas, one islet cell pancreatic carcinoma and one adenocarcinoma of unknown origin. An objective response was noted in 11/27 evaluable patients (40.7 +/- 19%): four complete and seven partial responses including three of the seven patients who previously failed to respond to 5FU-containing regimen, and eight of the 20 patients who received no prior chemotherapy. Objective responses were encountered in three of the five gastric cancers, five of the 17 colorectal cancers, one oesophageal cancer, one islet cell pancreatic carcinoma and one cholangiocarcinoma. The median duration of response was 6 months and overall median survival was 12 months (range: 1-48). There was one toxic death (non reversible medullar aplasia after the 1st course). This study confirms that this combination is an active regimen both for patients previously resistant to 5FU or untreated patients. It warrants further evaluation (perhaps with continuous 5FU infusions).

Adult↗
PubMed1994

Compliance with pharmacologic prophylaxis and therapy in bronchial asthma.

Between January 1 and December 31, 1988, 288 children [185 boys and 103 girls, mean age 8.75 +/- 4.98 years (range 2.50 to 16.83)], followed at the Outpatient Clinic for Lung Diseases of the University of Milan 5th Pediatric Department, were interviewed blindly in order to assess their compliance with pharmacologic therapy. All children were suffering from episodic, frequent, or chronic asthma requiring therapy as needed and preventive drugs for at least 30 days. Prophylaxis (including cromolyn, beclomethasone, theophylline retard, ketotifen, oxatomide, albuterol, and prednisone, alone or in combinations) and therapy in case of symptoms (albuterol, with or without theophylline prompt or beclomethasone) were prescribed. A study questionnaire was completed 30 to 45 days after the prescription with no advance warning by a physician unaware of the prophylactic and therapeutic prescriptions. Out of the 288 patients, 31 (10.8%) failed to return for the second visit. Understanding of prophylaxis was full in 61.1% of cases, partial in 23.3% and nil in 4.9%. Therapy as needed was fully remembered by 77.1% of parents, partially by 9.4% and totally forgotten by 2.8%. Compliance with single-drug prophylaxis was full in 60.1% of cases, partial in 22.2% and nil in 6.4%. Statistical analysis showed compliance was significantly better for ketotifen than for disodium cromoglycate (chi squared 9.85, P < .02), for ketotifen than for theophylline (chi squared 9.98, P < .02), and for beclomethasone than for theophylline (chi squared 8.77, P < .05).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Inhalation↗
PubMed1994

[Linear electronic intrarectal ultrasonography and cancer of the rectum. Results in 45 patients].

The aim of this study was to evaluate the preoperative staging of rectal carcinoma by intrarectal ultrasonography using linear probe or curved array transducer. Between October 1991 and July 1993, preoperative staging with endoscopic ultrasound was performed in 45 patients with rectal carcinoma. Twenty-four received preoperative radiation therapy. For carcinoma of the middle and the lower part of rectum, the distance between the inferior pole of the tumour and the levator ani muscle was systematically measured. The ultrasound results were compared with histological and surgical findings. The staging was accurately predicted in 82.2% of cases. The depth of cancer invasion was correct in 93.3% (95.2% when preoperative radiation therapy was not applied and 79.1% after radiation therapy). Presence or absence of lymph nodes metastasis was correctly determined in 84.4% (90.5% when preoperative radiation therapy was not applied and 79.1% after radiation therapy). The distance between the inferior pole of the tumour and the levator ani muscle was correctly determined in 29/31 carcinoma of the middle and the lower part of rectum. While the linear and sectorial technique is more difficult when the tumour was circular, the staging of the lower part of rectum carcinoma and anal canal was easier.

Adenocarcinoma↗
PubMed1993

Esophageal carcinoma with doubtful extirpability. Value of preoperative chemotherapy plus radiotherapy.

To improve resectability for bulky esophageal tumors and/or tumors evolving close to the pharyngo-esophageal junction (PEJ), a combined preoperative chemotherapy plus radiotherapy (CT+RT) was given in 25 patients. There were 23 men and 2 women (mean age: 55 years); 21 had squamous cell carcinoma and 4 had adenocarcinoma. According to TNM classification based on computed tomography, the tumor was graded T3 in 20 cases, T4 in 2, T2 in 2 and T1 in 1. The preoperative treatment included two sessions of continuous infusion of 5-fluorouracil (800 mg/m2 per day) and cisplatin (20 mg/m2 per day), and combined radiotherapy (3 Gy/day). The overall tolerance was acceptable. The tumoral mass decreased in 23 patients (92%). All the patients underwent a wide esophagectomy; among the six patients with a tumor close to the PEJ, two required an associated pharyngolaryngectomy. The operative mortality rate was 8%. Major non-fatal complications occurred in 52%. On histology, there was no evidence of residual disease in seven patients (28%). The median survival was 18 months and the overall survival rate was 22.1% at 2 years. For the patients who had a complete histological response, the 2-year survival rate was 35%. Our data suggest that combined CT+RT may improve resectability of esophageal carcinoma. Improved survival rates seem to be appreciable in patients with a complete histologic response.

Adenocarcinoma↗
PubMed1993

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Hyperphenylalaninemia due to a deficiency of hepatic phenylalanine hydroxylase (PAH) is the most common inborn error of amino acid metabolism. Clinically, the disorder is highly heterogeneous, spanning from nonphenylketonuria hyperphenylalaninemia to classical phenylketonuria. Only little is known about the molecular defects underlying hyperphenylalaninemia in Southern Europe. In this study, we conducted a systematic analysis of 53 patients from the Sicilian population. Each patient included in the study had persistently elevated blood levels of phenylalanine and met the differential criteria for PAH deficiency. Genomic DNA was analysed by scanning all PAH-coding exons for mutations by PCR in combination with denaturing gradient gel electrophoresis (DGGE). 52 patients were completely genotyped. A spectrum of 40 different mutations was established including 17 novel PAH mutations. Our results explain the clinical heterogeneity of hyperphenylalaninemia in Southern Europe, and form the basis for the establishment of phenotype-genotype correlations in Sicily and surrounding countries.

Alleles↗
PubMed1993

Lipid and apoprotein A-I and B levels in obese school-age children: results of a study in the Milan area.

The association between lipids and apoproteins and indices of fat patterning was assessed in a sample of school-age children of both sexes. The study included 361 children between 6 and 15 years of age in two urban centers in the Milan area. Ages, weights, and skin folds were recorded, and percentages of overweight and body mass index were derived. Total cholesterol (TC), high-density lipoprotein cholesterol (C-HDL), triglycerides (TRIGL), apoprotein A-I (apoA-I), and apoprotein B (apoB) were assayed. Low-density lipoprotein cholesterol (C-LDL) was calculated. The obese boys had significantly higher levels of TRIGL and apoB than nonobese boys. The obese girls had significantly higher TC, TRIGL, C-LDL, and apoB levels than the nonobese girls, but lower C-HDL. The LDL/apoB ratio was lower in obese than normal-weight boys. The subscapular/tricipital fold ratio (S/T) was correlated positively with TRIGL and inversely with C-HDL in boys, while in girls it was correlated with TRIGL and apoB. The subscapular/iliac fold ratio (S/I) was correlated with the C-LDL/apoB ratio only in girls. These data underline the importance of anthropometric parameters and indices of fat patterning in determining early cardiovascular risk factors.

Adolescent↗
PubMed1993

Localization of the human oncostatin M gene (OSM) to chromosome 22q12, distal to the Ewing's sarcoma breakpoint.

Using fluorescence in situ hybridization, a cosmid clone containing the gene for oncostatin M (OSM) was mapped to human chromosome 22q12, placing the OSM gene in the same chromosome band as the leukemia-inhibitory factor gene (LIF). The location of the OSM gene was determined relative to the t(11;22)(q24;q12) of Ewing's sarcoma and found to be distal to the translocation breakpoint on chromosome 22. Analysis of physical distances by pulsed-field gel electrophoresis demonstrated further that the two genes lie within 500 kb of each other.

Base Sequence↗
PubMed1993

Chromosomal localization of the human ciliary neurotrophic factor gene (CNTF) to 11q12 by fluorescence in situ hybridization.

The human gene for ciliary neurotrophic factor (CNTF) was previously assigned to chromosome 11 by analysis of a panel of somatic cell hybrids. We isolated cosmid clones containing the CNTF gene from an arrayed-chromosome specific library and used fluorescent in situ hybridization to regionally localize the human CNTF gene on chromosome 11. The gene maps at an FLpter of 0.46, corresponding to a cytogenetic band position of 11q12.2.

Base Sequence↗
PubMed1993

Tandem linkage of genes coding for leukemia inhibitory factor (LIF) and oncostatin M (OSM) on human chromosome 22.

Leukemia-inhibitory factor (LIF) and oncostatin M (OSM) are members of a family of structurally similar growth factors presenting overlapping and specific functions. Although the genes coding for IL-6, CSF3 and CNTF are scattered in the human and mouse genome, human LIF and OSM genes have conserved synteny in the course of evolution. Through isolation of a YAC and a cosmid clone containing both LIF and OSM we demonstrate that the two genes are linked in tandem on human chromosome 22q12, separated by 16 kilobases of intervening genomic DNA and transcribed in the same head-to-tail orientation. The close physical linkage between LIF and OSM genes brings new evidence of their evolutionary relationship.

Base Sequence↗
PubMed1993

P-VABEC: a prospective study of a new weekly chemotherapy regimen for elderly aggressive non-Hodgkin's lymphoma.

PURPOSE: To evaluate, in a prospective trial, a new combination chemotherapy specifically designed for elderly patients. PATIENTS AND METHODS: From October 1988 to December 1990, 60 previously untreated patients older than 60 years of age with aggressive non-Hodgkin's lymphoma (NHL) were treated at our institution with a new weekly alternating six-drug chemotherapy regimen, P-VABEC. The schedule consisted of doxorubicin, etoposide, and cyclophosphamide alternated weekly with vincristine and bleomycin. Oral prednisone was administered daily during the entire treatment period. Twenty-six of 60 patients were treated for a total of eight courses and 34 of 60 for 12 courses. RESULTS: A total of 45 patients (75%) achieved a complete response (CR), 10 (17%) a partial response (PR), and five (8%) no response. So far, 20 of 45 CR patients have relapsed, four of 10 PR patients have progressed, and three patients have died while in CR. Twenty-eight patients are still alive and responding (22 CRs, six PRs) after a median follow-up of 25 months. The projected overall survival (OS), disease-free survival (DFS), and event-free survival (EFS) rates at 2 years were 64%, 57%, and 55%, respectively. The outcome of patients treated with eight courses was similar to that of those who received 12 courses of P-VABEC in terms of CR rate and actuarial curves of OS, DFS, and EFS. Hematologic toxicity was mild in all patients. CONCLUSION: The P-VABEC regimen is active, well tolerated, and one of the briefest first-line chemotherapy regimens so far reported in the treatment of elderly patients with aggressive NHL. However, prospective randomized trials are needed to establish the real advantage of this regimen compared with other standard chemotherapy regimens.

Actuarial Analysis↗