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Biomedical subjects

E Rossi

Publications and source records attributed to E Rossi.

At least 163 records · Page 9Linked to original sources
PubMed1996

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human sarcoglycan family. We named this novel cDNA delta-sarcoglycan. Its mRNA expression is abundant in striated and smooth muscles, with a main 8 kb transcript, encoding a predicted basic transmembrane glycoprotein of 290 amino acids. Antibodies specifically raised against this protein recognized a single band at 35 kDa on western blots of human and mouse muscle. Immunohistochemical staining revealed a unique sarcolemmal localization. FISH, radiation hybrid and YAC mapping concordantly linked the delta-sarcoglycan gene to 5q33, close to D5S487 and D5S1439. The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex.

Amino Acid Sequence↗
PubMed1996

Development of insecticide resistance in Piophila casei (Diptera: Piophilidae) strains selected with low doses of deltamethrin.

Two populations of the cheese skipper, Piophila casei (L.), were sampled. The 1st was from a sheep farm where no chemical was ever applied; the 2nd was present in a ham factory where chemical treatment with pyrethroids was applied in the past against house flies, Musca domestica L., and Dermestid beetles. A substantial difference between their resistance to deltamethrin was observed (LC50 = 11.56 versus 68.08 micrograms/cm2 for females and 1.11 versus 4.20 micrograms/cm2 for males, respectively). Laboratory strains were established from both populations and were selected at constant rates for up to 20 generations (2, 4, and 7.3 ppm for the strains derived from the 1st population and 40 ppm for that selected from the 2nd population). Males and females of both strains showed an increase in LC50 (tested at the 5th and 19th or 10th generation), except when females were selected at the lowest rate (2 ppm). At the end of the trial, slopes of logit regressions were substantially steeper in strains selected at higher rates, suggesting that the effect of the insecticide was to reduce resistance variance. Crosses between unselected and selected strains were done. Results of survival analysis in F1 hybrids were analogous for males and females and were similar in both reciprocal crosses. LC50S were intermediate between those of the parental strains.

Animals↗
PubMed1996

A new global test for the evaluation of the protein C-protein S system.

We have developed a simple screening assay for evaluating the global activity of the protein C/protein S system. The new test consists of measuring the prothrombin time (PT) with bovine thromboplastin before and after activation of the PC present in the plasma sample by PROTAC, derived from Agkistrodon contortrix snake contortrix venom. Prolongation of the PT was directly related to the activity of the PC/PS system. One hundred and nineteen thrombophilic patients including 36 with PC deficiency, 22 with PS defect, 35 with APC resistance and 26 with other genetic defects predisposing to thrombosis were tested with the new assay together with 112 healthy subjects. The new test showed a high sensitivity for detection of inherited defects related to the PC/PS system (92%, 91% and 97% for PC defects, PS defects and APC resistance, respectively). Since it can be performed automatically the test could be used to screen for patients predisposed to thrombosis due to impairment of the PC/PS system and those patients who might eventually require more extensive evaluation of the PC/PS system by single component assays.

Adult↗
PubMed1996

Prevalence of Helicobacter pylori infection and related gastroduodenal lesions in spouses of Helicobacter pylori positive patients with duodenal ulcer.

BACKGROUND: To date, very few studies have evaluated the risk of infection among spouses of Helicobacter pylori positive patients and their results are conflicting. AIM: To assess the seroprevalence of H pylori infection in spouse of H pylori positive patients with duodenal ulcer as compared with age and sex matched volunteer blood donors, as well as the frequency of endoscopic gastroduodenal lesions in these spouses, according to the presence or absence of gastrointestinal complaints. METHODS: Some 124 spouses (48% males) of patients with duodenal ulcer consecutively seen over a 10 month period were studied. They were all screened for serum IgG anti-H pylori antibodies and asked to complete a questionnaire with particular reference to the presence of chronic or recurrent dyspepsia. Upper gastrointestinal tract endoscopy with antral and corpus biopsy specimens taken for histological examination and urease rapid test was offered to all seropositive spouses. Volunteer blood donors (248), living in Milan and matched for age, sex, north-south origins, and socioeconomic status to the cases, were used as controls. RESULTS: Spouses of patients with duodenal ulcer had a significantly higher seroprevalence of H pylori infection than controls (71% v 58%, p < 0.05); 30 of 88 (34%) H pylori positive spouses complained of dyspeptic symptoms compared with only four of 34 (12%) seronegative spouses (p < 0.02). At endoscopy, H pylori infection was confirmed in 48 of 49 (98%) seropositive spouses. The endoscopic findings in those spouses showed active duodenal ulcer in eight (17%), duodenal scar and cap deformity in two (4%), active gastric ulcer in two (4%), erosive duodenitis in three (6%), antral erosions in two (4%), antral erosions plus duodenitis in one, and peptic oesophagitis in another patient. The prevalence of major endoscopic lesions was significantly higher in symptomatic spouses than in those who had never been symptomatic. CONCLUSIONS: These findings show that being the spouse of an H pylori positive patient with duodenal ulcer may increase the risk of H pylori colonisation and perhaps of peptic ulcer disease, and raises questions as to whether serological screening of cohabiting partners of H pylori positive patients with duodenal ulcer may be indicated.

Adult↗
PubMed1996

Accuracy of 133-xenon regional cerebral blood flow and quantitative electroencephalography in systemic lupus erythematosus.

OBJECTIVE: Comparative assessment of sensitivity and specificity of regional Cerebral Blood Flow (rCBF) by 133-Xenon inhalation and quantitative Electroencephalography (qEEG) in patients with Neuropsychiatric Systemic Lupus Erythematosus (NP-SLE). METHODS: Sixty-two combined rCBF and qEEG examinations were performed in fifty-two SLE patients. Group A: 27 SLE patients without NP-SLE; group B: 17 patients with florid (within 1 month) NP-SLE; group C: 12 patients previous NP-SLE examined in the remission phase (four patients of which already considered in group B). The study also included data deriving from two sets of examinations in ten patients who were observed twice, in different phases of the clinical course of NP-SLE. RESULTS: In comparison to healthy controls, rCBF lower (p < .001) in group B only, whereas qEEG showed similar increases of both delta and theta relative powers together with a reduction of alpha relative power in groups A-C. As compared to group A, sensitivity and specificity in detecting cerebral abnormalities in group B were 76% and 78% for rCBF, and 59% and 44% for qEEG, respectively. In the ten patients examined twice, rCBF was consistent with clinical course in 90% of cases and qEEG in 60%. CONCLUSION: Total accuracy in detecting cerebral functional abnormalities during florid NP-SLE is better by rCBF than by qEEG. rCBF and, in selected cases, qEEG examinations are reliable markers of NP-SLE.

Adolescent↗
PubMed1996

Anaplastic large cell lymphoma: a clinicopathologic study of 53 patients.

Fifty-three consecutive cases of adult CD30+ anaplastic large cell lymphoma (ALCL) have been analyzed. Thirty-six were classified as Hodgkin's disease like variety (HL) (67%) and seventeen as so-called common type (CT) (33%). All cases strongly expressed the CD30/Ki-1 antigen; the neoplastic cells expressed CD15, CD45 and EMA in 60%, 44% and 33% of cases, respectively; T. B and null phenotypes were found in 37%, 17% and 46% of cases. Bulky mediastinal, B symptoms, and extranodal disease at diagnosis were present in 36%, 49% and 25% of cases. EBV encoded latent membrane protein (LMP-1) was found in 10 cases. Of the 13 tested cases only 4 expressed a weak positivity of the CD40 molecule, in a fraction of the tumor cells; in the same cases CD21 was never found. Patients were treated with various protocols; of the 50 evaluable patients, 39 (78%) obtained a complete remission (CR), 3 (6%) a partial remission (PR) and 8 (16%) did not respond. The projected overall disease free survival (DFS) at 36 months is 70%. Only patients with advanced disease stage (III-IV) showed a statistically decreased DFS and survival. Only symptomatic and extranodal disease significantly appeared to influence survival. This study confirms the good outcome of this group of lymphomas and differs from other reports for some clinical (lower percentage of advanced stage, extranodal disease and skin infiltration) and pathological (HL/CT ratio and immunophenotype) features.

Adult↗
PubMed1996

Twelve years experience with high-dose therapy and autologous stem cell transplantation for high-risk Hodgkin's disease patients in first remission after MOPP/ABVD chemotherapy.

High-dose therapy followed by autografting can cure patients with aggressive Hodgkin's disease (HD) refractory or with early relapse to first-line combination chemotherapy. On the other hand, the eradication of the disease is rarely achieved in heavily pretreated patients. It has been suggested that patients with HD with very high risk characteristics at diagnosis, often relapse despite appropriate therapy with 7-8 drugs combination. Thus it seems to us that such patients are potential candidates for early autografting during first remission. Twelve years ago, we initiated a pilot study to investigate whether patients with very high risk characteristics, would benefit from early autografting. The application of early autografting was compared with our historical group of patients in complete remission after receiving MOPP/ABVD, who had the same negative prognostic characteristics, refused autografting and who did not receive other treatment after achieving complete remission. Among the 22 consecutive patients entered into the pilot study and autografted, 18 are alive and 17 (77%) remain alive in unmaintained remission at a median of 86 months. One patient (4%) died of interstitial pneumonitis in the transplantation group. Only 8/24 (33%) patients, who did not receive an autograft, are currently alive and disease free at a median of 89 months. In conclusion, the early application of autografting appears to improve the outcome in patients with very high risk HD who achieved remission with MOPP/ABVD.

Adolescent↗
PubMed1996

Zeta chain and CD28 are poorly expressed on T lymphocytes from chronic lymphocytic leukemia.

We have analyzed the expression of the zeta chain of the T cell receptor/CD3 complex and the co-stimulatory molecule CD28 by dual colour immunofluorescence on T lymphocytes from patients with B cell chronic lymphocytic leukemia (CLL). Zeta chain was significantly reduced on CD3-positive lymphocytes from 33 patients compared with normal controls (P<0.0001). The values were lower in stages B and C than in stage A. In five patients tested in partial remission the values were normal. CD28, investigated in CD3, CD4 and CD8 positive T cells from 18 CLL patients appeared to be reduced in the three subsets but more marked in CD8-positive lymphocytes. The loss of zeta chain and CD28 in a proportion of circulating T lymphocytes from CLL may underlie some of the known functional abnormalities of these cells and the immunodeficiency associated with the disease.

CD28 Antigens↗
PubMed1996

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

We studied 16 cases of 8p duplications, with a karyotype 46,XX or XY,dup(8p), associated with mental retardation, facial dysmorphisms, and brain defects. We demonstrate that these 8p rearrangements can be either dicentric (6 cases) with the second centromere at the tip of the short arm or monocentric (10 cases). The distal 8p23 region, from D8S349 to the telomere, including the defensin 1 locus, is deleted in all the cases. The region spanning from D8S252 to D8S265, at the proximal 8p23 region, is present in single copy, and the remaining part of the abnormal 8 short arm is duplicated in the dicentric cases and partially duplicated in the monocentric ones. The distal edge of the duplication always spans up to D8S552 (8p23.1), while its proximal edge includes the centromere in the dicentric cases and varies from case to case in the monocentric ones. The analysis of DNA polymorphisms indicates that the rearrangement is consistently of maternal origin. In the deleted region, only paternal alleles were present in the patient. In the duplicated region, besides one paternal allele, some loci showed two different maternal alleles, while others, which were duplicated by FISH analysis, showed only one maternal allele. We hypothesize that, at maternal meiosis I, there was abnormal pairing of chromosomes 8 followed by anomalous crossover at the regions delimited by D8S552 and D8S35 and by D8S252 and D8S349, which presumably contain inverted repeated sequences. The resulting dicentric chromosome, 8qter-8p23.1(D8S552)::8p23.1-(D8S35)-8q ter, due to the presence of two centromeres, breaks at anaphase I, generating an inverted duplicated 8p, dicentric if the breakage occurs at the centromere or monocentric if it occurs between centromeres.

Abnormalities, Multiple↗
PubMed1996

Mobilization/transplantation of peripheral blood progenitor cells for aggressive non-Hodgkin's lymphoma with marrow involvement.

Thirty-five aggressive non-Hodgkin's lymphomas (NHL) with marrow involvement received high-dose cyclophosphamide (7 g/m2) and G-CSF in order to collect peripheral blood progenitor cells (PBPC). Fourteen patients were in partial remission, 16 patients were in relapse ('sensitive', 12; 'resistant', 4) and five patients were refractory to conventional treatment. A good yield of PBPC was obtained in 30 patients, while a low number of CD34+ cells and of CFU-GM was seen in two cases. Two patients entered progression and one patient died. Thirty patients underwent PBPC autografting. Twenty-nine out of 35 (83%) patients entered complete remission (CR). Two patients died in CR of infection following marrow aplasia 3 and 6 months after autografting. At 3 years the probability of survival and disease-free survival (DFS) are 62 and 51%, respectively.

Adult↗
PubMed1996

Attitude of women towards early cancer detection and estimation of the compliance to a screening program for cervix and breast cancer.

Before the start of a feasibility study for cervical and breast cancer screening in two towns (Genoa and Rome) in Italy, a random sample (N = 349) of the target population was interviewed with the aim of evaluating (i) the degree of knowledge as to the purpose of the screening tests; (ii) the attitude towards early detection of these cancers; and (iii) the potential compliance to the program. Pap test: 48.7% of women were correctly informed about the object of the test; information was associated with the degree of education (p < 0.0001). Periodic Pap test was reported by 77.9% of women: the proportion was higher among younger (p = 0.013) and married women (p = 0.001). A 1-year interval between two tests was more frequently reported by younger women (p < 0.001). Estimated participation in the cervical cancer screening program was 63.3%. Increasing age (OR = 0.78; CI = 0.6-1.0), the married status (OR = 0.39; CI = 0.18-0.83) and lack of knowledge of the object of the test (OR = 0.47; CI = 0.25-0.87) hindered participation in the program. Mammography: 53.3% of women reported that it is a method used for early detection of breast cancer. Well-educated women were more likely to be correctly informed (p < 0.0001). Previous mammography was reported by 49.3% of women aged 50 to 69 years who never experienced breast cancer symptoms; married women more frequently reported having had the test (p = 0.02). Estimated participation in the breast cancer screening program was 59%. Women aged 60 years and over were less prone to participate (OR = 0.44; CI = 0.22-0.89). Increasing age was the most relevant barrier to participation in screening programs, and strong efforts should be made to involve older women, due to their greater chance of getting cancer.

Adult↗
PubMed1996

[Diaphragm paralysis following pediatric heart surgery. Review of 25 treated cases].

Postoperative diaphragm paralysis after pediatric heart surgery is the cause of respiratory insufficiency for which there is currently no agreed treatment. The two hypotheses now considered are: early folding of the diaphragm or longterm assisted ventilation. A retrospective study from 1988 to January 1995 on the incidence of diaphragm paralysis and the type of treatment performed was carried out by the Department of Pediatric Heart Surgery of the Bambino Gesù Hospital in Rome. A total of 25 patients presented diaphragm paralysis out of 3400 operations performed and the clinical records of these patients in intensive care were reexamined. The patients were aged between 2 days and 5 years (mean 3 years) and weighed between 3 kg and 15 kg (mean 6.5). The diagnosis of diaphragm paralysis was made using fluoroscopy of the pulmonary fields during spontaneous breathing; 13 patients were extubated 7 days after diagnosis, 12 underwent surgical folding and were extubated immediately after surgery. The authors underline the particular intolerance to ventilatory insufficiency of pediatric patients after the correction of congenital cardiopathies and the need for early intervention to shorten the stay in intensive care and to avoid the onset of other severe complications such as infection. In particular, in patients undergoing Glenn's or Fontan's modified operation, the integrity of the ventilatory apparatus is essential for the correct function of the new hemodynamic status.

Cardiac Surgical Procedures↗
PubMed1995

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.

By using a PCR-based screening of a somatic cell hybrid panel and FISH, we have assigned the loci of mitochondrial single-stranded DNA-binding protein (SSBP), mitochondrial transcription factor A (TCF6), and mitochondrial endonuclease G (ENDOG) genes to human chromosomes 7q34, 10q21, and 9q34.1, respectively. The products of these three genes are involved in fundamental aspects of mitochondrial biogenesis, such as replication and transcription of the mitochondrial genome. The chromosomal localization of these genes is important to testing whether the corresponding proteins may play a role in the etiopathogenesis of human disorders associated with qualitative or quantitative abnormalities of mitochondrial DNA.

Chromosome Mapping↗
PubMed1995

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels.

The distribution of (TTAGGG)n telomeric repeats was studied in chromosomes of two Atlantic eels, Anguilla anguilla and A. rostrata. We found that these sequences hybridize to all the telomeres but also to the entire nucleolar organizer region (NOR) localized in both species at the short arm of chromosome 8. This was considered to be due to the interspersion of telomeric sequences within the NOR ones. Whatever the significance of this interspersion may be, it seems to be limited to A. anguilla and A. rostrata since in Muraena helena (family muraenidae), which also belongs to the Anguilliformes, no telomeric hybridization signals were found along the NOR regions.

Animals↗
PubMed1995

A multicenter randomized trial of comprehensive geriatric assessment and management: experimental design, baseline data, and six-month preliminary results.

Between October 1992 and July 1993, 11 Northern Italian geriatric departments systematically screened 1386 inpatients hospitalized for at least 10 days. Of those screened, 74% (N = 1019) were excluded by one or more of 7 exclusion criteria; 32% (N = 118) of the 367 remaining subjects failed to meet more than 1 of 8 inclusion criteria. The 11 Geriatric Evaluation Units (GEUs) examined the remaining eligible 249 inpatients with a uniform comprehensive geriatric assessment (CGA) plan, which included a number of validated assessment scales. Of those evaluated, 39% (N = 97) were ineligible for the study because of being unwilling, noncompliant, too sick or "not truly frail", and the remaining 152 (11% of all patients screened) were randomly enrolled in two groups; 79 were assigned to the GEU (experimental group), and 73 to standard care in the National Health Care System (control group). At entry there was no statistically significant difference between the two groups. At 6 months, preliminary results are encouraging; GEU patients had a lower mortality than controls (2 vs 8, 2.5% vs 10.9%; p < 0.05). Slight differences were seen in both clinical-cognitive-affective-functional status and the use of health and social care resources. Only 3 subjects dropped out, 8 refused further follow-up, and 3 went to a nursing-home. We conclude that a standardized selection plan can recognize frail elderly inpatients and that GEU care seems to achieve good results.

Aged↗
PubMed1995

Growth rate and growth hormone response to growth hormone-releasing hormone challenge in slowly growing children during chronic administration of clonidine.

In this study the effects of chronic administration of clonidine, an alpha-2-adrenergic agonist, on the growth rate and GH response to GHRH in 12 "slowly growing" children were reported. Clonidine was administered at the dose of 0.04 mg/m2 body surface twice daily along 12 months. The protocol of the study consisted in five periods of growth rate, insulin-like growth factor-1, basal and GHRH-stimulated GH level evaluation: 1) 6-month pretreatment (P1); 2) 6-month placebo administration (PO); 3) after 4 months of therapy (P1); 4) after 4 months of clonidine withdrawal (P2); 5) after 4 months of therapy reinstatement (P3). No difference was observed between P-1 and P0 when all the parameters were considered. During P1 a significant increase of linear growth (p < 0.05 vs P0 and P-1) was observed while standard deviation of height was not modified. At the end of P2, the growth rate and standard deviation of height were similar to those recorded in P0 and P-1. After reinstatement of clonidine therapy a new but less pronounced rise of the growth rate was found (p < 0.05 vs P1, p < 0.01 vs P0 and P-1). GH, insulin-like growth factor-1, GHRH-stimulated GH levels had significantly increased during P1 than P0 and P-1 (p < 0.05), while during P2 they were similar to P0 and P-1. During P3 a new increase of insulin-like growth factor-I baseline and GHRH-stimulated GH levels were observed. However, these were significantly lower than those observed during P1.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Determination by Skeleton↗