Caesarean section and antiretroviral treatment. Italian trial on mode of delivery in HIV-positive women study group.
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Anti-HIV Agents↗
Biomedical subjects
E Ricci
Publications and source records attributed to E Ricci.
Clinical Experience with the NIR Stent: Retrospective Observation on Acute Results and Follow-up in 709 Patients.
The NIR stent is an expandable cellular coronary prosthesis with high flexibility and excellent trackability. The very low crossing profile, associated to the high flexibility, makes this stent suitable for complex and distal lesions. The aim of this study was to evaluate the feasibility, safety, and long-term (clinical follow-up) efficacy of elective and/or urgent deployment of the NIR stent in a broad patient group with coronary artery disease. Between June 1996 and May 1997, 986 NIR stents were implanted in 781 vessels (de novo or restenotic lesions in native vessels, saphenous vein grafts and internal mammary conduits) of 709 consecutive patients (498 men, 211 women) undergoing coronary angioplasty in two Villa Maria Group Catheterization Laboratories. Procedural angiographic success was achieved in 98.4% of all the lesions treated, ranging from 100% success rate in type A lesion to 97.6% in type C lesions (overall procedural success, 98.4%). Major adverse cardiac events (MACE) were considered from PTCA/stenting time to the patient discharge. The in-hospital MACE were limited and occurred in 15 patients: urgent surgical revascularization 0.8%, death 0.7%, sub-acute stent thrombosis 0.5% (overall in-hospital MACE rate 2.1%). Clinical follow-up data were obtained at 8.6 +/- 2.8 months following the stenting procedure. The event-free survival rate was 87.9%. The late MACE rate evaluation showed death, target lesion revascularization 9.9% (over-all late MACE rate 12.1%). The NIR stent performances in this broad patient population were excellent, showing very high procedural success rate both in normal and complex coronary anatomy. On the basis of the previous data, we can define NIR stent a safe multifunctional device suitable both for easy and complex situations. The clinical late results are very promising in term of event-free survivals and late MACE.
Journal Article↗
An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.
We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM). The patients (two second cousins) developed a slowly progressive distal and proximal myopathy with complete sparing of the quadriceps. Muscle biopsy showed rimmed vacuoles in numerous muscle fibers, and electron microscopy documented accumulation of 15-21 nm filaments. DNA analysis established linkage to 9p1 and haplotype analysis revealed that the patients shared a recombined common haplotype. The gene locus of ARQS-IBM was initially mapped to chromosome 9p1-q1 in families of Iranian-Jewish origin and later confirmed in a few other ethnic groups. This is the first report of Italian patients with ARQS-IBM showing positive linkage to chromosome 9p1. Our data suggest that patients having distal and proximal myopathy with rimmed vacuoles and possible recessive inheritance, often classified as distal myopathies, should be thoroughly investigated according to the diagnostic criteria of h-IBM and, when positive, studied for linkage to chromosome 9p1.
Arm↗
Primary non-Hodgkin's lymphoma of the nasal cavity. Clinical case report and discussion.
Primary non-Hodgkin's lymphoma of the nasal cavity is a disease more likely to affect men than women; it is characterized by a T cell immunophenotype and is often associated with involvement of the paranasal structures and with high recurrence rates. Many authors report that its extremely poor prognosis depends on tumour stage and extension into the paranasal sinuses. Patients with Ann Arbor stage IE limited to only one nasal cavity have better survival rates than those with the same stage but with tumour extension beyond the nasal cavity. Patients with stages IIE, IIIE and IV have a very poor prognosis that does not seem to be affected by the use of conventional chemotherapy. Optimal treatment for the disease is not yet known. The use of radiotherapy alone has been reported in initial stages of the disease; however, given that its prognosis is burdened by frequent local or systemic recurrence or both, combined modality therapy has been applied in all stages. In this case report we describe a case of primary non-Hodgkin's lymphoma of the nasal cavity localized at the middle turbinate, in combination with an updated literature review.
Hodgkin Disease↗
Influence of menstrual and reproductive factors on ovarian cancer risk in women with and without family history of breast or ovarian cancer.
BACKGROUND: As women with a family history of ovarian and/or breast cancer possibly inherit genetic changes that alter their risk of ovarian cancer, other established risk factors for ovarian cancer may influence the risk differently in women with and without a family history of the disease. METHODS: Case-control study conducted between 1983 and 1991 in Northern Italy. Cases were 971 women, under 75 years, with incident, histologically confirmed epithelial ovarian cancer, and controls were 2758 women, under 75 years, admitted to hospitals for non-malignant, non-hormone-related conditions, who had not undergone bilateral oophorectomy. Of these, 93 cases and 139 controls had a family history of ovarian and/or breast cancer. RESULTS: The risk of ovarian cancer increased with irregular menstrual cycles, late age at menopause, natural menopause, nulliparity, never use of oral contraceptives and use of hormone replacement therapy. We computed an 'adult life risk score' (ALRS) considering the combined effect of these factors. Compared to women without a family history and a low ALRS, the OR was 1.7 for women without family history and high ALRS, 1.4 for women with a family history and low ALRS, and 3.5 for women with a family history and high ALRS. CONCLUSIONS: Intervention on selected hormonal risk factors for ovarian cancer might be important for women with a family history of the disease.
Adult↗
Underestimation of regional myocardial perfusion with Tc-99m sestamibi single-day rest-stress SPECT: a "drug washout" pitfall?
Myocardial perfusion scintigraphy with a Tc-99m sestamibi single-day SPECT protocol is a widely used technique to examine patients with possible or known coronary artery disease. A 76-year-old man with a clinical history suggestive of ischemic heart disease underwent Tc-99m sestamibi myocardial SPECT imaging with a same-day rest and stress protocol after temporary discontinuation of his current therapy, which included calcium channel and beta blockers and nitrates. The scintigraphic pattern was consistent with an asymptomatic infarction of the posterolateral myocardial wall and periinfarct ischemia. One week later, the patient had a Tc-99m sestamibi myocardial SPECT study at rest without discontinuing therapy, and scintigraphic images showed normalization of the posterolateral wall perfusion defect. The angiographic study showed a 90% stenosis of the circumflex artery. This case suggests that, during a 1-day cardiac SPECT protocol, washout of therapeutic pharmaceuticals may be responsible for underestimation of myocardial rest perfusion in territory supplied by a coronary artery with a critical stenosis.
Aged↗
Nifedipine administered in pregnancy: effect on the development of children at 18 months.
The safety of use of the calcium channel blocker nifedipine in pregnancy as it affects child development has not been well evaluated. We report the results, with regard to the safety for children of use of nifedipine in pregnancy, on children followed up at 18 months of age born from women recruited in a study comparing routine treatment with nifedipine compared with no treatment.
Calcium Channel Blockers↗
Perceptions of disease and therapy are factors influencing adherence to antiretroviral therapy.
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Adult↗
Public attitudes regarding willingness to participate in medical research studies.
The recruitment of adequate numbers of people to participate in medical research studies is an ongoing problem for biomedical researchers. Although the general public has come to expect and demand that the biomedical community develop new, safe and effective approaches to the prevention and treatment of diseases, that same public is not aware of the important role that public participation plays in the development of medical advances. Much is known about willingness to participate in research studies from the perspectives of patients, survivors, and those at-risk for getting a particular disease. However, little is known about the attitudes and willingness of the general public to participate in medical research. Yet, it is this population that comprises the potential pool of participants for future treatment and prevention studies. In order to examine public attitudes toward and support for medical research, a random digit dial telephone survey was conducted with 489 persons in southwestern Pennsylvania. The survey measured the respondent's stated willingness to take part in a medical research study and the factors associated with willingness to participate. These included the respondent's health status, demographic characteristics, attitudes and beliefs about participation and their knowledge about the conduct of medical research. The results of the study indicate that 46% of those surveyed said that they would be willing to take part in a medical research study focusing on a new treatment for a specific disease that was of concern to them, 25% stated that they would not be willing and 29% stated that they were undecided regarding participation. However, under certain circumstances, such as having cancer, over half of those who were undecided said they would be willing to participate. The characteristics of those willing to participate in a medical research study differ from those not willing. Determinants of willingness include: having a relative or friend who has an illness, being middle aged (between 35-64 years old), prior experience with participation in a medical research study, having a favorable attitude toward the use of human subjects in medical research and beliefs that diverse types of persons participate in clinical trials. Those respondents who were undecided about joining a clinical trial, also have different characteristics than those who are not willing. The determinants of being undecided in contrast to not willing include: having at least a college degree, having a favorable or neutral attitude toward the use of humans in medical research and, believing that the well-being of participants is the primary concern of researchers. The findings of this study have both public policy and practice implications. From a policy perspective, medical research designed to develop new treatments for disease requires an evidenced-based approach for decision making. Such an approach can only succeed if adequate numbers of individuals are willing to participate in these studies. From a practice perspective, the current study suggests that opportunities exist to increase participation by targeting recruitment efforts not only toward the willing but also toward those who are undecided about participation in medical research studies. This would involve tailoring the content of communications to meet the specific characteristics and concerns of each of these two groups of individuals.
Adolescent↗
HAART tolerability: post-exposure prophylaxis in healthcare workers versus treatment in HIV-infected patients.
The aim of our study is to compare the tolerability of zidovudine/lamivudine/indinavir when used in post-exposure prophylaxis (PEP) subjects and in HIV-infected patients. HIV-negative patients were enrolled as part of the surveillance protocol for professional exposure at the Luigi Sacco Hospital in Milan. HIV-positive patients were selected among all subjects undergoing treatment with zidovudine/lamivudine/indinavir from the CISAI cohort, an Italian cohort for the evaluation of adverse reactions to HAART. In both studies patients were followed prospectively and the severity of the reactions was evaluated using the AIDS Clinical Trial Group adverse experience grading scales. Up to September 1999, 37 HIV-seronegative subjects had undergone treatment with zidovudine/ lamivudine/indinavir. From a total of 1207 patients belonging to the CISAI cohort, 199 were identified as being treated with the same regimen. The frequency of adverse events in the PEP subjects was 70.3% compared to 11.1% for HIV-infected patients. In the first group, adverse events caused treatment interruption in 21 subjects (56.7%) versus 14 patients (7%) among the HIV-infected group. Only one case of a severe event (grade 3-4) was observed in the prophylaxis group against 12 in the treatment group. Our study shows that treatment interruption is eight times higher in HIV-negative subjects compared to HIV-seropositive patients, and that the incidence of adverse events is approximately six times higher, though such events, are for the most part, not severe.
Adult↗
[Post-parotidectomy Frey's syndrome. Treatment with botulinum toxin type A].
The Frey's syndrome, manifest after parotid trauma, is characterized by head and neck hyperemia and abundant sweating of the hyperemic skin in response to gustatory stimuli. The use of the botulin toxin to treat the symptoms in patients with Frey's syndrome has been described in numerous studies. For some time up until now our Center has achieved excellent results using the group A botulin toxin to overcome the hypertonus of the cricopharyngeal muscle in patients who had undergone laryngectomy and were rehabilitated with voice button. We have sought to extend the use of this toxin to Frey's syndrome, a relatively frequent complication of parotidectomy. A total of 86 patients participated in the study: 41 males (47.6%) and 45 females (52.4%) ranging in age from 25 to 77 years (average age 51 years). Of these patients 7 (8.1%) had undergone post-operative radiotherapy. Of the 86 patients studied, 18 referred significant symptoms in terms of abundance and frequency. The syndrome was considered severe if the symptoms were present at each meal and if the patient indicated a significant worsening of his quality of life. Intermittent episodes were indicated by 22 patients. The remaining 46 (43.5%) did not complain of any symptoms. The exact extension of the cervicofacial gustatory sweating was evaluated using the Minor test and the involved region was divided into 1 square centimeters sections. The amount of skin surface involved ranged from 10 to 80 square centimeters. The type A neurotoxin was frozen and was reconstituted with a sterile saline solution at a final concentration of 2.5 UI/0.1 ml. The intracutaneous infiltration was performed without anesthesia, infiltrating 0.1 ml of solution, containing 2.5 UI of toxin into the center of each 1 square centimeters section. Statistical analysis was performed to evaluate the potential relationship between how long the treatment was effective, incidence of recurrence, seriousness of the crises and the following variables: age, sex, histology, cutaneous surface involved, injected dose of botulin toxin and post-operative radiotherapy. In the group of 18 patients with severe symptoms (20.9%) the benefit was immediate in all cases although the recurrence rate was 50%. The Frey's syndrome symptoms disappeared within 7 days of infiltration. In the group of 22 patients with less severe involvement (25.5%), the treatment gave positive, definitive results in 16 patients (72.7%). Those patients whose symptoms persisted were treated a second time with an infiltration of 2.5 UI per square centimeters. We feel that the use of the type A botulin toxin is the most appropriate treatment for the Frey's syndrome. In fact, such treatment offers the following advantages: it is effective within 7 days, has limited side effects, can be applied on an outpatient basis, is inexpensive and is positively considered by the patients.
Adult↗
[Molecular markers study in pTNM of squamous carcinoma of the head and neck].
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Biomarkers↗
Correlates of hormone replacement therapy use in Italian women, 1992-1996.
OBJECTIVES: we analyzed the determinants of hormonal replacement therapy (HRT) use in Italy for the period 1992-1996, using data from a framework of case-control studies of colon and rectal neoplasm. METHODS: a total of 1574 women aged 45-74 years were considered. This group comprised women with acute, non neoplastic, non-hormone-related diseases admitted to a network of hospitals in six areas of Italy. RESULTS: a total of 146 women (8.5%) reported ever HRT use. The multivariate odds ratio (OR) of ever use was 1.6 (95% CI 1.0-2.6) for women with 12 years of education or more, compared with those with < 7 years. The frequency of use of HRT tended to decrease with increasing parity: the OR was 0.6 for women with four or more children as compared to nulliparae (chi2 trend 3.5, P = 0.06). Ever HRT users were more frequently smokers. HRT use was more frequent in women reporting surgical menopause (OR = 2.7) than those with natural menopause. Among post menopausal women, HRT use was related with early age at menopause (chi2 trend 4.6, P = 0.03). HRT use was more common among women reporting lower body mass index (BMI) both at interview and at age 30 years and the difference between current BMI and BMI at age 30 years, was not related with HRT use. CONCLUSIONS: women of higher socioeconomic status or education reported more frequent HRT use and nulliparae and smokers were also more likely to use HRT. Further HRT use was directly associated with early age at menopause and surgical menopause and inversely related with measures of body weight.
Aged↗
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
OBJECTIVE: To characterize a kindred with a distinctive autosomal dominant neuromuscular disorder. BACKGROUND: The authors studied a large Italian family affected by a progressive neuromyopathy. Ten individuals over three generations were affected. The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy, development of generalized muscle weakness with distal-to-proximal progression sparing facial and ocular muscles, dysphonia and dysphagia, pes cavus and areflexia, variable clinical expression ranging from subclinical myopathy to severely disabling weakness, and mixed neurogenic and myopathic abnormalities on electromyography. METHODS: Morphologic, immunocytochemical, and ultrastructural studies were performed in muscle biopsies from three affected patients. A genomewide linkage analysis through the genotyping of 292 microsatellite markers spanning the 22 autosomes was undertaken to map the disorder segregating in this family. RESULTS: All muscle biopsies showed variation of fiber size, panesterase-positive angular fibers, mild to severe fibrosis, and numerous "rimmed vacuoles." Electron microscopy failed to demonstrate the nuclear or cytoplasmic filamentous inclusions specific of inclusion-body myopathies and, accordingly, immunohistochemistry did not show any positivity with SMI-31 antibodies detecting hyperphosphorylated tau. Preliminary analysis of 292 microsatellite markers provided evidence for linkage to chromosome 19p13. CONCLUSIONS: This distinctive autosomal dominant disorder is characterized by a vacuolar neuromyopathy. Localization to chromosome 19p13 will allow the genetic relationship between this disease and inherited myopathies with rimmed vacuoles, in particular autosomal dominant inclusion-body myopathies, to be defined.
Adult↗
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
OBJECTIVE: To characterize a new gene locus for familial spastic paraparesis (FSP). BACKGROUND: FSP is a genetically heterogeneous group of upper motor neuron syndromes. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked disorder. Four loci for autosomal dominant FSP have been genetically mapped, and two genes have been shown responsible for the X-linked type. In addition, two loci for autosomal recessive type have been reported and mapped to chromosomes 8q and 16q. The gene for the 16q locus has been characterized as a mitochondrial protein. METHODS: Eight recessive FSP families from America and Europe were used for genetic linkage analysis. The known recessive loci (8q and 16q) and the X-linked loci (PLP and L1CAM genes) were screened through PCR amplification, followed by linkage analysis, single-strand conformational polymorphism, or both. RESULTS: All the families except one revealed lack of linkage to the known loci for recessive and X-linked types of FSP. One of the eight families showed data consistent with linkage to the previously characterized 8q locus. Analysis of all the families for possible linkage to other candidate loci revealed significant positive lod scores for markers in chromosome 15q. The maximum multipoint combined lod score for the non-8q families was Z = 3.14 for markers D15S1007, D15S971, D15S118, and D15S1012, at a distance of 6.41 cM from the marker D15S1007, in between D15S971 and D15S118. CONCLUSIONS: Our data suggest a new locus for recessive FSP linked to chromosome 15q, and that this may be the most common one.
Adolescent↗
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Genotype analysis by using the p13E-11 probe and other 4q35 polymorphic markers was performed in 122 Italian facioscapulohumeral muscular dystrophy families and 230 normal controls. EcoRI-BlnI double digestion was routinely used to avoid the interference of small EcoRI fragments of 10qter origin that were found in 15% of the controls. An EcoRI fragment ranging between 10 and 28 kb that was resistant to BlnI digestion was detected in 114 of 122 families (93%) comprising 76 familial and 38 isolated cases. Among the unaffected individuals, 3 were somatic mosaics and 7, carrying an EcoRI fragment larger than 20 kb, could be rated as nonpenetrant gene carriers. In a cohort of 165 patients with facioscapulohumeral muscular dystrophy we found an inverse correlation between fragment size and clinical severity. A severe lower limb involvement was observed in 100% of patients with an EcoRI fragment size of 10 to 13 kb (1-2 KpnI repeats left), in 53% of patients with a fragment size of 16 to 20 kb (3-4 KpnI repeats left), and in 19% of patients with a fragment size larger than 21 kb (>4 KpnI repeats left). Our results confirm that the size of the fragment is a major factor in determining the facioscapulohumeral muscular dystrophy phenotype and that it has an impact on clinical prognosis and genetic counseling of the disease.
Adult↗
The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription.
Spinal muscular atrophy (SMA) is caused by homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene. SMNt and its homologous centromeric copy (SMNc) encode the SMN protein, which is markedly reduced in SMA I patients. We have performed SMN transcript and protein studies on spinal cord sections of an SMA I patient using in situ hybridization and immunofluorescence. While the amount of protein was negligible, the level of transcripts was comparable with that of controls. These findings suggest that the reduced protein level is not caused by a deficient transcription of the SMNc gene.
Autoantigens↗
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.
In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number of KpnI repeats in the 4q35 region, although no specific transcripts from this locus have been isolated so far. Molecular diagnosis is based on the detection by probe p13E-11 of EcoRI small fragments, in the range 10-28 kb, that are resistant to BlnI digestion. In family studies this probe is used with other 4q35 polymorphic markers to assign the haplotype associated with the disease. So far, we performed DNA analysis in 145 FSHD families and identified the 4q35 DNA rearrangement not only in affected individuals, but also in healthy subjects at risk of transmitting the disease, such as non-penetrant gene carriers and somatic mosaics. In addition we applied prenatal tests to 19 fetuses, using DNA extracted from chorionic villi samples (CVS) at 10-11 weeks of gestation. The FSHD status, as determined by the presence of BlnI-resistant small fragments associated with the at risk haplotype, was assessed in nine fetuses; in the remaining 10 cases the disease was excluded. Our results show that molecular analysis of 4q35 rearrangements is a reliable indirect method to perform diagnostic, predictive and prenatal tests in FSHD.
Chromosomes, Human, Pair 4↗