Increased levels of circulating endothelial cells in chronic periaortitis as a marker of active disease

BACKGROUND: The pathogenesis of chronic periaortitis (CP) has not been clarified. The histologic features and the association with autoimmune diseases suggest an immune-mediated disorder with marked inflammatory vascular and perivascular lesions. To clarify the role of vascular damage we looked for the presence and the surface phenotype of circulating endothelial cells (CECs) in the peripheral blood of patients with chronic periaortitis. METHODS: Eleven patients with CP were evaluated for the presence of CECs; 9 patients had active and 2 inactive disease. Three patients with active disease were also evaluated 3 months after therapy. Ten atherosclerotic patients, 10 patients with renal insufficiency of variable degree and etiology, and 40 healthy subjects were evaluated as controls. Five-parameter, 3-color flow cytometry was performed with a FACScan. CECs were defined as CD45 negative, CD31, P1H12, and CD36 positive, and activated CECs as CD45 negative and P1H12, CD62 positive. RESULTS: The median number of CECs in patients with CP (10(6) cells/mL) was significantly higher than in healthy controls (16 cells/mL, P= 0.0004) and atherosclerotic patients (25 cells/mL, P= 0.0005) Two patients with inactive disease had a CEC count comparable to that of normal subjects. In 2 of the 3 patients reevaluated, 3 months after therapy CEC numbers normalized. Almost all CECs were microvascular in origin and showed an activated phenotype. CONCLUSION: The presence of a high number of CECs in the active phase of chronic periaortitis and their normalization during inactive disease suggest that endothelial damage may play a role in the pathogenesis of the disease.     

Prediction of coronary events in a low incidence population. Assessing accuracy of the CUORE Cohort Study prediction equation

BACKGROUND: The aims of this paper are to derive a 10-year coronary risk predictive equation for adult Italian men, and to assess its accuracy in comparison with the Framingham Heart Study (FHS) and PROCAM study equations. METHODS: The CUORE study is a prospective fixed-cohort study. Eleven cohorts, from the north and the centre-south of Italy, had been investigated at baseline between 1982 and 1996, adopting MONICA methods to measure risk factors. Among this sample of 6865 men, aged 35-69 years and free of coronary heart disease (CHD) at baseline, 312 first fatal and non-fatal major coronary events occurred in 9.1 years median follow-up. Calibration, as the difference between 10-year predicted and actual risk, and discrimination, as the ability of the risk functions to separate high-risk from low-risk subjects, have been assessed to compare accuracy of the FHS, the PROCAM, and the CUORE study equations. RESULTS: The best CUORE equation includes age, total cholesterol, systolic blood pressure, cigarette smoking, HDL-cholesterol, diabetes mellitus, hypertension drug treatment, and family history of CHD (area under the ROC curve = 0.75). The uncalibrated estimates of the 10-year risk in this CUORE follow-up data were 0.093 and 0.109 higher (P < 0.05) from the Framingham and PROCAM risk scores, respectively, than the Kaplan-Meier estimate for CUORE, indicating risk overestimates for both equations. Standard recalibration techniques improved accuracy of the FHS equation only. PROCAM overestimates were prominent in the higher risk deciles. With an alternative method for recalibration better risk estimates were obtained, but a cohort study was needed to obtain a properly calibrated risk equation. CONCLUSIONS: The CUORE Project predictive equation showed better accuracy of the FHS and PROCAM equations, overcoming frequently reported risk overestimates. The CUORE equation may be adopted to identify men with high coronary risk in Italy.     

Severe pneumococcal meningitis heralding a deep hypogammaglobulinaemia related to common variable immunodeficiency, at the age of 27 years

Common variable immunodeficiency with an associated broad immunoglobulin (0.7%) deficit affecting all subclasses, was revealed in a 27-y-old previously healthy female, upon development of a severe pneumococcal meningitis. We report the third case of purulent meningitis complicating this primary immunodeficiency, and the second due to Streptococcus pneumoniae. Clinicians should maintain an elevated suspicion for congenital immunodeficiency, especially when observing adult patients with a negligible prior history.     

Lipoprotein(a)-associated atherothrombotic risk in hemodialysis patients

BACKGROUND: Hemodialysis patients show a considerably higher risk of atherothrombotic disease than the general population. We investigated both lipoprotein(a) [Lp(a)] plasma levels and apolipoprotein(a) [apo(a)] phenotypes in relation to occurrence of atherothrombotic events in hemodialysis patients compared with subjects showing a normal kidney function. Methods: Lp(a) levels and apo(a) isoforms were determined in 118 hemodialysis patients, including 59 with prior atherothrombotic events, and in 182 subjects with normal creatinine clearance, including 82 who experienced a prior atherothrombotic event. Results: Lp(a) levels in hemodialysis patients (median; 20 mg/dl) were higher (p < 0.01) than in age- and sex-matched subjects with normal renal function without a history of atherothrombosis (11.3 mg/dl). Among hemodialysis patients, median Lp(a) levels were higher in subjects with than in those without prior atherothrombosis (34 vs. 15 mg/dl, p < 0.05). In hemodialysis patients and in subjects without nephropathy, the percentage of low-molecular-weight apo(a) phenotypes were significantly higher in patients with than in those without a history of prior atherothrombotic events (56.9% vs. 33.9%, p < 0.05; 62.2% vs. 25%, p < 0.00001,respectively). Stepwise regression analysis indicated that the presence of at least one apo(a) isoform of low molecular weight was an independent predictor of atherothrombosis in hemodialysis patients (p < 0.05). Conclusions: Elevated Lp(a) plasma levels appear to be associated with atherothrombosis, independent of their origin due to genetic factors or related to the impaired kidney function. Low-molecular-weight apo(a) isoforms are reliable genetic markers of atherothrombosis both in patients with impaired kidney function and in subjects without nephropathy.     

Metastasis of hepatocellular carcinoma to the heart: a case report and review of the literature

Hepatocellular carcinoma (HCC) with extension or metastasis to the right atrium is an uncommon form of cardiac malignancy. This report describes a rare case of right intraventricular metastasis from HCC in a patient who had undergone a partial hepatectomy for HCC more than two years earlier. Open heart surgery was performed and the mass was partially excised. Symptoms (dyspnea, edema of the lower extremities, palpitations) improved after surgery. Two months later a recurrence of the ventricular mass was observed. Systemic chemotherapy with cisplatin and doxorubicin resulted in significant tumor reduction. The patient died of progressive hepatic failure six months later. In addition to this case report, a review of the literature on heart involvement from HCC is presented.     

Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature

Nasu-Hakola disease (NHD, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile dementia associated with sclerosing encephalopathy. The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan; in Italy there are anecdotal reports. The combination of neuropsychiatric symptoms and bone cysts is unique to this disease, which we believe to be underestimated in Italy. The molecular defect has been identified in loss-of-function mutations in the TYROBP gene in Finnish and in Japanese patients, and in the TREM2 gene in other families of different ethnic origins. We reviewed the international literature to define better the diagnostic steps and to draw the attention of neurologists and orthopaedic specialists to the disease. The identification of new cases followed by appropriate genetic counselling, genetic analysis, and study of the territorial distribution of affected patients could be a good strategy to follow in order to improve understanding of the disease.     

Beliefs of psychiatric nurses about schizophrenia: a comparison with patients' relatives and psychiatrists

BACKGROUND: What patients' relatives and health professionals think about causes, treatments and psychosocial consequences of schizophrenia can influence its detection and outcome. AIMS: To compare the beliefs about schizophrenia in 190 nurses, 110 psychiatrists and 709 relatives of patients with this mental disorder, recruited in 30 randomly selected mental health centres. METHODS: In each centre, the key-relatives of the first consecutive 25 subjects with schizophrenia, and the nurses and psychiatrists who had been working in the service for at least one year, were asked to complete the Questionnaire on the Opinions about Mental Illness (QO). RESULTS: The factors most frequently mentioned by psychiatrists and nurses among the causes of schizophrenia were heredity, stress and family conflicts, while those most frequently mentioned by relatives were stress, traumas and love breakdown. Nurses had opinions: (a) similar to those expressed by psychiatrists concerning patients' ability to work equally as other people, and patients' punishability in case of illegal acts; (b) similar to those expressed by relatives about patients' unpredictability and political rights; (c) significantly different from the other two samples as concerns recognition of patients' affective rights. CONCLUSIONS: Family psychoeducational interventions and nurses' training should address not only clinical aspects but also disability and psychosocial consequences of schizophrenia.