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Biomedical subjects

G Russo

Publications and source records attributed to G Russo.

At least 145 records · Page 8Linked to original sources
PubMed1996

The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

Heterozygosity for ataxia-telangiectasia (A-T), a cancer-prone recessive syndrome, has been associated with an increased risk of breast cancer. The gene for A-T (ATM) is located at chromosomal region 11q22-q23, a region of frequent loss of constitutional heterozygosity in breast and other tumors. Loss of constitutional heterozygosity at 1lq22-q23 was found in 47% of informative cases in the series of primary tumors analyzed in this study. To investigate the role of ATM in breast cancer, we have determined the complete genomic organization of the gene, developed an exon-scanning PCR single-strand conformation polymorphism (PCR-SSCP) assay for mutation detection of ATM, and screened 38 consecutive breast tumors for mutations using both genomic DNA- and cDNA-based assays. In addition to common ATM polymorphisms detected both in the coding sequence and in flanking introns, seven unique SSCP alleles were identified in six tumor DNAs. Sequence analysis of these alleles revealed rive nucleotide substitutions that were predicted to change the encoded amino acid. However, PCR-SSCP and nucleotide sequencing analysis of the paired blood samples and of an extended sample size of a total of 224 chromosomes indicated that these SSCP patterns represent constitutional rare polymorphisms with a frequency between 0.005 and 0.023. Because the majority of A-T mutations are null mutations and none of the ATM alleles found in breast cancer samples would lead to the truncation of the translation product, we conclude that, in this initial sample of sporadic breast cancer patients, there was no evidence for an increased number of A-T carriers. In addition, because no somatic mutations were found, our study rules out the ATM gene as the frequently altered tumor suppressor gene at 11q23.

Ataxia Telangiectasia↗
PubMed1996

Synthesis of the disaccharides methyl 4-O-(2'/3'-O-sulfo-beta-D-glucopyranosyluronic acid)-2-amino-2-deoxy-alpha-D-glucopyranoside disodium salts, related to heparin biosynthesis.

The synthesis of the disaccharides methyl 4-O-(2'/3'-O-sulfo-beta-D-glucopyranosyluronic acid)-2-amino-2-deoxy-alpha-D-glucopyranoside 3 and 4 as disodium salts is described. Allyl 4,6-O-benzylidene-alpha-D-glucopyranoside 6 was converted to trichloroacetimidate 20. Glycosylation of 20 with 5 promoted by BF3.OEt2 gave disaccharide 21. Deacetylation of 21 followed by monoacetylation of the resultant diol 22 afforded the two monoacetylated disaccharides 23 and 24. Sulfation and deprotection of each disaccharide gave the desired sulfated compounds 3 and 4.

Chromatography, High Pressure Liquid↗
PubMed1996

The placenta growth factor gene of the mouse.

Placenta growth factor (PlGF) and vascular endothelial growth factor (VEGF) are angiogenic factors containing the 8-cysteine motif of platelet-derived growth factor (PDGF). Both PlGF and VEGF are mitogens for endothelial cells in vitro and promote neoangiogenesis in vivo. In addition, PlGF strongly potentiates the proliferative and the permeabilization effects exerted by VEGF on the vascular endothelium. We have now isolated the cDNA coding for mouse Plgf by screening a mouse heart cDNA library with the human PlGF sequence as probe. The human PlGF protein has two forms, PlGF-1 and PlGF-2, that arise from alternative splicing of a single gene mapping on Chromosome (Chr) 14; the isolated mouse Plgf cDNA encodes the longer of these two forms (PlGF-2). We show that the mouse Plgf-2 mRNA is the only transcript present in the normal tissues analyzed. Mouse Plgf-2 is a 158-amino-acid-long protein that shows 78% similarity (65% identity) to the human PlGF-2. Computer analysis reveals a putative signal peptide and three probable N-glycosylation sites, two of which are also conserved in human PlGF. The mouse Plgf gene was isolated and characterized; the gene is encoded by 7 exons spanning a 13-kb DNA interval. Finally, we have mapped the mouse Plgf gene to Chr 12, one cM from D12Mit5, and the human PlGF gene to 14q24, using both FISH and genetic crosses.

Animals↗
PubMed1996

A cost-benefit analysis of voluntary routine HIV-antibody testing for hospital patients.

The objectives of this paper are threefold: first, to develop a taxonomy of potential benefits from voluntary, routine HIV-antibody testing of hospital patients; second, to inform attending healthcare workers, hospital patients and policy makers of the potential benefits from such testing; and third, to make inferences about whether such testing is warranted by a cost-benefit criterion. Benefits stemming from information about a patient's HIV serostatus accrue to: (1) healthcare workers if extra precautions reduce their HIV-exposure rate; (2) the patient if knowledge of HIV serostatus allows life-extending prophylactic treatment to be initiated; and (3) the patient's sex partners if the patient is less likely to transmit HIV after undergoing HIV testing. Using recent estimates on the value of life, hospital-specific HIV-prevalence rates, the effectiveness of prophylactic treatment, rates of HIV exposure and conversion by healthcare workers, and reduction in high-risk sexual behaviors by seropositive patients, we estimate the benefits of testing as the value of statistical life saved. The opportunity cost of HIV testing is calculated as the reported cost of a standard HIV-test protocol with pre- and post-test counseling. Information about a patient's HIV serostatus provides small expected benefits to healthcare workers ($3.34) because the risk of HIV transmission is small; benefits to attending healthcare workers are insufficient to warrant routine HIV testing on a stand-alone basis even in high HIV-prevalence hospitals. However, an HIV-seropositive test result provides large expected benefits to the patient ($11,202) and to the patient's sex partners ($5271). Adding these nonrivalrous benefits, we find that routine, voluntary HIV-testing of hospital patients passes a cost-benefit test even in low HIV-prevalence hospitals. Four major qualifications of the cost-benefit analysis should be considered. (1) The benefits to some parties can only be achieved if the patient's serostatus is disclosed to them. (2) The net benefits may be negative if HIV-testing induces riskier behavior. (3) The analysis does not incorporate the significant potential for third-parties (employers, insurers, healthcare workers) to use the test to impose costs on HIV-seropositive patients. (4) The sample of inpatients choosing voluntary HIV testing may not be representative of the overall hospital population. These unmeasured factors suggest that policymakers should exercise caution in implementing a voluntary HIV-testing program.

AIDS Serodiagnosis↗
PubMed1996

Bone density in young patients with congenital adrenal hyperplasia.

One of the major complications of glucocorticoid treatment is bone loss. 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis, leading to congenital adrenal hyperplasia (CAH): synthesis of cortisol is impaired and replacement therapy is therefore mandatory. We studied the bone mineral density in a group of patients with congenital adrenal hyperplasia (CAH) on long-term glucocorticoid replacement therapy. We selected 30 Caucasian patients with CAH due to 21-hydroxylase deficiency (mean +/- SD age = 17.45 +/- 2.49 years). 22 patients had the classical CAH form and the remaining 8 had the nonclassical (late-onset) form. The mean duration of therapy was 15.20 +/- 4.04 years. Bone mineral density (BMD) was evaluated with a dual-energy X-ray absorptiometer. BMD was also measured in 73 healthy white volunteers of comparable age (17.35 +/- 2.99 years). BMD values of the spine (sBMD), total body (TBBMD), legs, and arms of CAH patients, adjusted for confounding variables (age, gender, body mass index), did not differ from those of control subjects (p = 0.86; p = 0.17; p = 0.06 and p = 0.26, respectively). sBMD and TBBMD values did not show relationships with the duration of treatment and the dose of corticosteroids. Patients with the classical form of CAH had bone density values comparable with those of patients with the nonclassical form (sBMD: p = 0.33; TBBMD: p = 0.97). Our data show that, despite long-term treatment with glucocorticoids, CAH patients have bone density values comparable with controls.

Absorptiometry, Photon↗
PubMed1996

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

Using a polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay, which amplifies individually all coding exons of the ATM gene deficient ataxia-telangiectasia (A-T), we have analyzed 10 patients with A-T for ATM mutations. Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5' splice site of intron 17, leading to exon skipping. However, most mutations were small deletions or insertions resulting in premature termination of the translation product. The development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.

Ataxia Telangiectasia↗
PubMed1996

[Diagnosis of HCV infection by 3rd-generation ELISA in HCV-RNA positive hypertransaminasemic patients with 2nd-generation ELISA negative results].

To evaluate the improved sensitivity of 3rd-generation assays for the detection of ani-HCV antibodies in diagnosing cases of HCV infection, we have re-tested by 3rd-generation ELISA test (ELISA-3) serum samples from immunocompetent patients with chronic hypertransaminasemia who were HCV-RNA positive but tested negative with 2nd-generation ELISA (ELISA-2). Out of 21 HCV-RNA positive/ELISA-2 negative samples, 3 (14.3%) were ELISA-3 positive. Among the ELISA-3 reactive samples, two were indeterminate by RIBA-3 (one was reactive with c1 00 and the other with c22), and one was negative. These results demonstrate that even in the clinical setting ELISA-3 improves the diagnosis of HCV infection. The improvement seems to be related to a better reactivity of HCV peptides rather than to the inclusion of the new determinant NS5. However, the sensitivity of the tests for the detection of anti-HCV antibodies remains to be improved.

English Abstract↗
PubMed1996

[Percutaneous mitral valvuloplasty in patients who have undergone surgical commissurotomy].

Percutaneous mitral valvuloplasty (PMV) was performed with Inoue's catheter, by anterograde approach, in 19 patients (2 males and 17 females, mean age of 56 +/- 13 years) with restenosis after surgical commissurotomy. Mean valvular area increased from 1.2 +/- 0.2 to 1.9 +/- 0.2 cm2 while mean transvalvular gradient decreased from 13 +/- 6 to 7 +/- 4 mmHg. All but 2 patients reached optimal results; one had a suboptimal result (final valvular area > 1.5 cm2, percentage of increase less than 25%), and 1 was sent to the surgeon for a significant increase in mitral regurgitation ( ). At 1 year follow-up, (available for 11 patients), mean valvular area was 1.7 +/- 0.3 cm2 and transmitral gradient was of 5.4 +/- 2 mmHg. Four patients showed a restenosis; 1 of them underwent surgical mitral valve replacement after a second unsuccessful PMV; 2 showed good clinical conditions, while the fourth patient was sent to the surgeon for the high echocardiographic score. At 2-year follow-up, available for 4 patients, the mean gradient was of 5.5 +/- 2.5 mmHg and the mitral valve area was 1.8 +/- 0.2 cm2. NYHA functional class progressively improved after the procedure in all patients but those undergoing mitral valve replacement. In conclusion, despite the occurrence of restenosis, PMV seems to be feasible in patients who already underwent surgical commissurotomy; this procedure can avoid the risks of a second surgery, and should be considered the first choice treatment in these patients.

Adult↗
PubMed1996

[The immediate and midterm results of percutaneous mitral valvuloplasty in subjects over 60].

We have analyzed the immediate and mid-term (1 and 2 years) results of percutaneous mitral valvuloplasty (PMV) by Inoue's catheter in 97 patients < 60 years (Group A) compared with 34 patients > 60 years (Group B). In 61% Group A the patients were in NYHA functional class II, 36% in III, and 3% in I; in Group B, 56% of the patients were in NYHA functional class III, 38% in II, and 6% in IV. Mean mitral valve area was 1.1 cm2 before dilatation in both groups, and a significant (p < 0.0001) increase was obtained in both Group A (0.9 +/- 0.3 cm2) and Group B (0.8 +/- 0.3 cm2). No significant differences were observed between the two groups. Mean transvalvular gradient decreased significantly (p < 0.0001) from 13.6 +/- 5.7 to 7.2 +/- 3.1 mmHg in Group A, and from 9.9 +/- 4 to 6.5 +/- 2.3 mmHg in Group B (A vs B: p < 0.02). Optimal result was obtained in 94% and 88% of Group A and Group B patients, respectively. Suboptimal result was obtained in 2% and 6% of Group A and Group B patients, respectively. These differences were not significant. Failure of PMV occurred in 4% and 6%, respectively. At 1-year follow-up Group A 7 patients and 5 Group B patients showed restenosis; at 2-year follow-up one more restenosis was present in Group A (A vs B at 1 and 2 years: NS). We conclude that PMV is a safe and effective technique in young patients and in patients > 60 years.

Adult↗
PubMed1996

Surgical treatment of subdural empyema: a critical review.

Between 1990 and 1992 six cases of subdural empyema were surgically treated at the Neurosurgical Division of Emergency Department of Cardarelli Hospital in Naples. Three cases were associated with paranasal sinusitis and three cases with otitis media. Headache and fever were the presenting symptoms in all cases; in only two cases they were associated with seizures and altered mental status. CT scans showed convexity low density collections in five cases and multilocalized pus collection in one; concurrent paranasal or mastoid infections were visualized as well. The organisms responsible for the subdural empyema were Peptococcus in four cases, Streptococcus and anaerobius in the other two cases. In five cases surgical treatment consists in pus drainage by selective burr hole and placement of a subdural small silicon tube for local antibiotic therapy. In one case with a loculated diffuse empyema, craniotomy was performed in order to provide a better access to all the localizations. In all cases drainage of the wound and intravenous antibiotic therapy were used. Paranasal sinus drainage or mastoidectomy performed by the otolaryngologist when a localized collection of pus was present, grave a quicker regression of symptoms. A full recover of the original neurological status was achieved in all cases; a 20 months mean followup confirms the results.

Adolescent↗
PubMed1996

[Single-center experience with the Palmaz-Schatz intracoronary stent: the immediate results and medium- and long-term follow-up].

The recent implantation of intravascular devices (stents), during percutaneous transluminal coronary angioplasty (PTCA), has shown favourable results, decreasing acute occlusion and restenosis during follow-up as compared to PTCA alone. The aim of the study was to assess in a single center the efficacy of the implantation of a Palmaz-Schatz stent in a homogeneous group of patients and to assess the incidence of angiographic restenosis. Fifty-four consecutive patients (mean age 57 +/- 12 years) with single vessel coronary disease at angiography and with objective evidence of myocardial ischemia were studied. According to the duration of angiographic follow-up, patients were divided into two groups: Group I (mean 6 +/- 3 months) and Group II (mean 29 +/- 5 months). Stent implantation was performed electively in 43 patients (80%) while in the remaining 11 (20%) as "bail out" in a failed PTCA. Sixty-five stents were implanted in 54 patients of whom 1 stent in 47 patients (87%), 2 stents in 3 patients (6%) and 3 stents in the remaining 4 patients (7%). The stents were placed in the anterior descending of the left coronary artery in 32 patients (59%), left circumflex coronary artery in 8 patients (15%) and right coronary artery in 14 patients (26%). Mean diameter stenosis before stent implantation was 88 +/- 6% and decreased significantly to 4 +/- 7% after stent implantation (p < 0.0001). No major complications such as death, Q wave myocardial infarction, emergency coronary artery bypass graft or stroke occurred during the procedure. Minor complications such as wrong positioning of the stent, non occlusive acute thrombosis, non Q wave myocardial infarction and transient vessel occlusion occurred in 9% of treated patients. At follow-up, in Group I, 8 patient of 43 (18%) showed a > or = 50% restenosis and 10 patients < 50% restenosis; in the remaining 25 patients no variations in the caliber of the vessel were observed. In Group II, 2 patients of 11 (18%) showed a > or = 50% restenosis and 1 patient < 50% restenosis; in the remaining 8 patients no variations in the caliber of the vessel were observed. Complications during medium and long-term follow-up included total vessel occlusion in 1 patient. In conclusion, these data confirm that the Palmaz-Schatz stent may be implanted with high success and low complication rate. The percentage of restenosis, occurring in near 20% of the cases, remains an unresolved problem, despite the implantation of such intravascular devices.

Adult↗
PubMed1996

[Mixed-type pancreatoblastoma. Report of a clinical case].

Pancreatoblastoma is a very rare tumor of the pancreas, affecting children in the first decade of life. Ultrasound and CT scan may be useful but pre-operative diagnosis is often quite difficult. High level of seric alpha-fetoprotein could be suggestive of pancreatoblastoma. The definitive diagnosis is however made by histologists when an organoid structure, well encapsulated, consisting of acinar cells with zymogen-like granules and squamoid corpuscle is demonstrated, sometimes associated with mesenchymal tissue (mixed-type pancreatoblastoma). Immunohistochemical studies may help in differentiating pancreatoblastoma from papillary cystic tumors, acinar cell carcinomas and endocrine pancreatic tumors of the pancreas. We report a case of mixed-type pancreatoblastoma in a 12-year-old female patient, located in the head of the pancreas. The treatment has been surgical, consisting of a duodeno-cephalo-pancreasectomy. Neither radiotherapy nor chemotherapy has been performed. The patient is alive, without recurrence, four months after the operation. Diagnostic, therapeutic and prognostic aspects are discussed.

Child↗