Neurofibromatosis type 1 (NF1) is a relatively common single-gene disorder, and is caused by heterozygous mutations in the NF1 gene that result in a loss of activity or in a nonfunctional ...neurofibromin protein. Despite the common association of NF1 with neurocutaneous features, its pathology can extend to numerous tissues not derived from the neural crest. Among the rare cerebrovascular abnormalities in NF1, more than 85% of cases are of purely occlusive or stenotic nature, with intracranial aneurysm being uncommon. Predominantly, the aneurysms are located in the internal carotid arteries (ICAs), being very rare bilateral aneurysms. This report describes a very unusual case of fusiform aneurysms of both ICAs in a Caucasian NF1 patient, with a new pathogenic intragenic heterozygous deletion of the NF1 gene, presenting at age 22 years with Tolosa-Hunt syndrome, because of partial thrombosis of the left giant intracavernous aneurysm. Medical treatment with anticoagulant therapy allowed a good outcome for the patient. In conclusion, early identification of cerebral arteriopathy in NF1 and close follow-up of its progression by neuroimaging may lead to early medical or surgical intervention and prevention of significant neurologic complications.
Epidemiological studies have shown that dietary behaviour is an important aetiological factor in various chronic diseases. We used principal component factor analysis to identify dietary patterns and ...to examine the associations of these patterns with health-related variables in a sample of elderly (≥60
years) Italians participating in the European Prospective Investigation into Cancer and Nutrition (EPIC).
Exploratory factor analysis was applied to the intake of food groups as estimated by semi-quantitative food questionnaires. Individual participants were assigned factor scores, indicating the extent to which their diet conformed to each of the four dietary patterns identified:
prudent (cooked vegetables, pulses, cabbage, seed oil and fish);
pasta & meat (pasta, tomato sauce, red meat, processed meat, bread and wine);
olive oil & salad (raw vegetables, olive oil, soup and chicken); and
sweet & dairy (sugar, cakes, ice cream, coffee and dairy). Highly educated people had high scores on
prudent and low scores on
pasta & meat. The
pasta & meat and
prudent patterns were strongly positively associated with body mass index (BMI) and waist-to-hip ratio (WHR) in men and women. Hyperlipidaemic men and women consumed more of the
prudent and
olive oil & salad patterns and less of the
sweet & dairy pattern than those with normal lipids. The
olive oil & salad was significantly higher and the
pasta & meat and
sweet & dairy patterns significantly lower in men and women who had dieted over the previous year, suggesting awareness of the health consequences of these patterns.
Dietary pattern analysis provides a characterization of recurrent dietary behaviour in elderly people, and can be used to provide tangible dietary advice to elderly people.
In spite of their important impact on populations, a number of diseases - all types of cancer and coronary heart disease in women - are "rare" events for statistical analysis and often analyzed in ...designs affected by selection and information biases, such as case-control studies. Large cohort studies based on the storage of biological specimens appear to be the most suitable solution for identifying risks for those diseases. Progetto ATENA, a study on the etiology of major chronic diseases in women is based on this design. Ten thousand women, aged 30-69 years, living in the area of the city of Naples, free of cancer and cardiovascular disease, are being recruited over a four-year period. Ten per cent of the cohort is being randomly selected from the electoral roles, the rest will be volunteers. Information on dietary habits, reproductive history, familiarity for chronic disease, active smoking habits and passive smoking exposure, physical activity, and socio-demographic data are being collected. Clinical data such as blood pressure, anthropometry, and electrocardiogram are also taken. All the participants provide biological samples of blood (fasting drawing) and urine (timed morning spot). The biological samples are processed in order to explore the main areas under study (nutritional markers, metabolism, endocrinology, genetics, environmental exposure markers, thrombogenesis). The samples are stored in liquid nitrogen (-196° C) as soon as the blood and urine processing have been finished. An appropriate follow-up information system on the health status of the participants is being set up to estimate incidence and mortality rates.
To evaluate the performance of the Birmingham Vasculitis Activity Score (BVAS) v3 and the Disease Extent Index (DEI) for the assessment of disease activity in 4 primary childhood (c-) systemic ...vasculitides.
Patients fulfilling the EULAR/PRINTO/PRES (Ankara) c-vasculitis classification criteria for Henoch-Schönlein purpura (HSP), childhood (c) polyarteritis nodosa (c-PAN), c-Wegener's granulomatosis (c-WG) and c-Takayasu arteritis (c-TA) with disease duration at the time of diagnosis ≤3 months were extracted from the PRINTO database. The performance of the BVAS and DEI were examined by assessing convergent validity, the pattern of disease involvement, and responsiveness. We also evaluated alternative unweighted scoring methods for both tools.
The analysis set included 796 patients with 669 HSP, 80 c-PAN, 25 c-WG and 22 c-TA. The median age at diagnosis was 6.9 years (6.6-12) and median delay in making the diagnosis from the onset of signs/symptoms was 0.01 (0.003-0.027) years. A strong correlation was found between the BVAS and DEI (rs=0.78) while correlation with the physician global assessment was moderate (rs=0.48) with BVAS and poor with DEI (rs=0.25). Both the BVAS and DEI sub-scores and total scores were able to descrive the disease involvement in the 4 childhood vasculitides. Responsiveness was large (>1.5) for both tools. The performance characteristics of the BVAS and DEI with the unweighted methods were comparable.
This study demonstrates that both the BVAS and DEI are valid tools for the assessment of the level of disease activity in a large cohort of childhood acute and chronic vasculitides.
EPIC-Italy is the Italian section of a larger project known as EPIC (European Prospective Investigation into Cancer and Nutrition), a prospective study on diet and cancer carried out in 10 European ...countries. In the period 1993-1998, EPIC-Italy completed the recruitment of 47,749 volunteers (15,171 men, 32,578 women, aged 35-65 years) in 4 different areas covered by cancer registries: Varese (12,083 volunteers) and Turin (10,604) in the Northern part of the country; Florence (13,597) and Ragusa (6,403) in Central and Southern Italy, respectively. An associate center in Naples enrolled 5,062 women. Detailed information for each individual volunteer about diet and life-style habits, anthropometric measurements and a blood sample was collected, after signing an informed consent form. A food frequency questionnaire specifically developed for the Italian dietary pattern was tested in a pilot phase. A computerized data base with the dietary and life-style information of each participant was completed. Blood samples were processed in the same day of collection, aliquoted (RBC, WBC, serum and plasma) and stored in liquid nitrogen containers. Follow-up procedures were validated and implemented for the identification of newly diagnosed cancer cases. Cancer incidence was related to dietary habits and biochemical markers of food consumption and individual susceptibility in order to test the role of diet-related exposure in the etiology of cancer and its interaction with other environmental or genetic determinants. The comparability of information in a prospective study design is much higher than in other studies. The availability of such a large biological bank linked to individual data on dietary and life-style exposures also provides the unique opportunity of evaluating the role of selected genotypes involved in the metabolism of chemical compounds and DNA repair, potentially related to the risk of cancer, in residents of geographic areas of Italy characterized by specific cancer risk and different dietary patterns. Baseline characteristics of participants are briefly described.
Glutathione S-Transferase (GST) is a phase II enzyme and catalyses reactions between glutathione and a variety of electrophilic compounds, including some environmental carcinogens. In man, at least ...20 isoenzymatic forms of GST have been identified and many of them show genetically-based individual variability of enzyme activity. The GSTM1 and GSTT1 isoenzymes display several polymorphisms, including a homozygotic deletion, which have been associated with an increased risk for developing neoplastic diseases. There is geographical and ethnic variation in genotype frequencies for both genes. The available data suggest that cancer incidence varies amongst Italian regions, being higher in Northern that in Southern areas, though it is unknown whether this phenomenon is to be attributed to genetic and/or environmental factors. We performed a case-control study to evaluate the GSTM1 and GSTT1 polymorphisms in a series of cancer patients in Basilicata, a Southern Italian region, and in corresponding controls. The results obtained demonstrate that the occurrence of GST polymorphisms in the Basilicata population is not different from other Italian regions and suggest that the population attributable risk associated with these genotypes may be quite high. GSTM1 homozygous null genotype was associated with an increasing risk of cancer, especially in females. The strongest association was with colon and breast cancers. For the GSTT1 gene, the results obtained were suggestive of a decreased risk of cancer associated with the null genotype. Thus, similar studies on these and other susceptibility genes are warranted since they can help to identify susceptible subgroups of people who can be targeted for cancer prevention.
Background: The results of the few studies conducted on the relation between antioxidant vitamins and carotid atherosclerosis have been inconclusive. Objective: We evaluated the association between ...preclinical carotid atherosclerosis, as determined by high-resolution B-mode ultrasound, and both the intake amounts and plasma concentrations of antioxidant vitamins. Design: Among 5062 participants in Progetto Atena, a population-based study on the etiology of cardiovascular disease and cancer in women, 310 women were examined by B-mode ultrasound to detect early signs of carotid atherosclerosis. The participants answered a food-frequency questionnaire, and their plasma concentrations of vitamin E, vitamin A, and carotenoids were measured. None of the women took vitamin supplements. Results: The occurrence of atherosclerotic plaques at the carotid bifurcation was inversely associated with tertiles of vitamin E intake; the test for a linear trend across tertiles was significant (P < 0.05). Similarly, the ratio of plasma vitamin E to plasma cholesterol was inversely related to the presence of plaques at the carotid bifurcation; the test for a linear trend across tertiles was significant (P < 0.02). No association was found between the intake of other antioxidant vitamins (vitamins A and C and carotenoids) or their plasma concentrations and the presence of carotid plaques. Conclusions: An inverse association was found between both the intake amount and plasma concentration of vitamin E and preclinical carotid atherosclerosis in middle-aged women. This association was independent of other cardiovascular risk factors, was not related to vitamin supplements, and supports the hypothesis that low vitamin E intake is a risk factor for early atherosclerosis.
Introduction: This study aimed to illustrate the validity of the treatment with vertebroplasty (VP) in patients with aggressive or symptomatic vertebral hemangioma (VH) with or without epidural ...extension. Methods: From January 2003 to December 2007, 24 consecutive patients have been treated with VP, for a total of 36 vertebral bodies affected by VH: two cervical, ten dorsal, 24 lumbar. All the patients complained of a pain syndrome resistant to continuous medical medication; four of 24 patients also presented aggressive magnetic resonance features of the vertebral lesion and two patients showed also epidural extension. A unipedicular approach has been performed in 16 patients; a bipedicular approach has been performed in six, while for the cervical spine an anterior-lateral approach with manual dislocation of the carotid axis has always been performed. Bone biopsy was never done. All procedures have been carried out with local anesthesia, except for the treatment of the cervical hemangiomas which has always been performed under general anesthesia. Four vertebral bodies in the same session have been treated in one case. Results: Results have been evaluated with the visual analog scale and the Oswestry Disability Index methods. In all the patients, in the following 24-72h, a successful outcome has been observed with a complete resolution of pain symptom. Extravertebral vascular or discal cement leakage has been observed in four patients, without any onset of clinical radicular syndrome due to epidural diffusion. Clinical and radiological follow-up until 4years has been performed in 12 patients and it showed stability of the treatment and absence of pain. Conclusions: Percutaneous treatment with VP for aggressive and symptomatic vertebral hemangiomas even with epidural extension is a valuable, mini-invasive, and quick method that allows a complete and enduring resolution of the painful vertebral symptoms without findings of fracture of a vertebral body adjacent or distant to the one treated.
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