[Show abstract][Hide abstract] ABSTRACT: Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
[Show abstract][Hide abstract] ABSTRACT: Breast cancer, a major cause of female morbidity and mortality, is a global health problem; 2008 data show an incidence of ~450,000 new cases and 140,000 deaths (mean incidence rate 70.7 and mortality rate 16.7, world age-standardized rate per 100,000 women) in European Union Member States. Incidence rates in Western Europe are among the highest in the world. We review the situation of BC screening programmes in European Union. Up to date information on active BC screening programmes was obtained by reviewing the literature and searching national health ministries and cancer service websites. Although BC screening programmes are in place in nearly all European Union countries there are still considerable differences in target population coverage and age and in the techniques deployed. Screening is a mainstay of early BC detection whose main weakness is the rate of participation of the target population. National policies and healthcare planning should aim at maximizing participation in controlled organized screening programmes by identifying and lowering any barriers to adhesion, also with a view to reducing healthcare costs.
International Journal of Oncology 09/2014; · 2.66 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We evaluated efficacy of natalizumab in relapsing-remitting multiple sclerosis patients in a clinical practice setting. We report data on the first consecutive 343 patients receiving natalizumab in 12 multiple sclerosis (MS) Italian centers enrolled between April 2007 and November 2010. The main efficacy endpoints were the proportion of patients free from relapses, disease progression, combined clinical activity, defined as presence of relapse or disease progression, from MRI activity, and from any disease activity defined as the absence of any single or combined activity. At the end of follow-up, the cumulative proportion of patients free from relapses was 68%; the proportion of patients free from Expanded Disability Status Scale (EDSS) progression was 93%; the proportion of patients free from combined clinical activity was 65%; the proportion of patients free from MRI activity was 77%; and the proportion of patients free from any disease activity was 53%. Natalizumab was effective in reducing clinical and neuroradiological disease activity. Its effectiveness in clinical practice is higher than that reported in pivotal trials and was maintained over time.
Int J Immunophatol pharmacol. 06/2014; 27(2):147-154.
[Show abstract][Hide abstract] ABSTRACT: Colorectal cancer is a major public health challenge worldwide. In Europe it is the first malignancy in terms of incidence and the second in terms of mortality in both genders.
Despite evidence indicating that removal of premalignant and early-stage cancer lesion scan greatly reduce mortality, remarkable differences are still found among countries both in terms of organized screening programs and of the tests used.
In 2003 the European Council recommended that priority be given to activation of organized cancer screening programs, and various States have been making significant efforts to adopt effective prevention programs with international quality standards and centralizing screening organization and result evaluation.
After a 2008 EU report on the state of screening program activation highlighted that little more than 50% (12/22) of Member States had colorectal cancer screening programs, screening programs have been adopted or earlier pilot projects have been extended nationwide.
This paper examines the state of activation and the screening strategies of colorectal cancer screening programs in EU States as of July 2013.
[Show abstract][Hide abstract] ABSTRACT: Celiac Disease (CD) is an increasingly common autoimmune disorder. It requires a strict lifelong adherence to a gluten-free diet (GFD) which can influence health-related quality of life (HRQOL). This study assesses HRQOL in children and adolescents with CD and explores how several demographic and clinical characteristics and GFD adherence affect their perceived health status.
We recruited 140 consecutive children and adolescents with CD confirmed by small bowel biopsy. HRQOL was assessed using the SF-12 questionnaire plus some CD-specific questions exploring wellbeing and lifestyle. Patients, aged 10 to 18 years, were identified by pediatric gastroenterologists and guided in filling out the questionnaire by trained psychologists. Parametric or non-parametric tests were applied to analyze continuous variables and frequencies as appropriate.
The SF-12 mean mental component summary score (MCS12) was lower than in the general Italian population (p < 0.001), whereas differences in terms of physical health were not significant (p = 0.220). More than one third of those interviewed reported feeling angry "always" or "most of the time" about having to follow the GFD, and nearly 20% reported feeling different from others and misunderstood because of CD "always" or "most of the time".
Our findings highlight the need for health professionals to identify adolescents with major disease-related problems. The food industry should improve its range of gluten-free food products and public bodies and institutions should promote informative campaigns and help promote the overall quality of life of children and adolescents with CD.
Health and Quality of Life Outcomes 12/2013; 11(1):204. · 2.27 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Several studies have suggested an association between migraine and insulin resistance (IR) without adequately addressing the issue according to migraine type. We assessed IR in subjects with migraine with aura (MwA) and migraine without aura (MwoA) to estimate the consistency of the possible association.
In a case-control study we included case subjects with MwA and MwoA, who were consecutively selected from those referred to our Regional Headache Center from September 2011 to February 2013, and age-matched control subjects selected using general practitioners' databases. IR was calculated by means of the homeostatic model assessment of IR (HOMA-IR), β-cell function (HOMA-B), and the quantitative insulin sensitivity check index (QUICKI) measuring glucose and insulin values in a blood sample collected in the morning after overnight fasting. Data regarding anthropometric measures, comorbidity risk factors, and migraine characteristics were also recorded.
We recruited 50 case subjects with MwA (38 women) and 50 with MwoA (40 women) and 50 control subjects (40 women). Proportions of arterial hypertension, cigarette smoking, hypercholesterolemia, use of oral contraceptives, and mean values of the body mass index (BMI) were similar in the three groups. We found significantly different glucose values among and within groups considering case subjects with MwA and MwoA and control subjects (4.9 ± 0.6 vs 4.7 ± 0.5 vs 4.6 ± 0.5 mmol/l; P = 0.018) in the absence of any difference in insulin (53.1 ± 24.0 vs 56.7 ± 34.4 vs 53.8 ± 24.4 pmol/l; P = 0.811), HOMA-IR (1.6 ± 0.8 vs 1.7 ± 1.0 vs 1.6 ± 0.7; P = 0.765), HOMA-B (121.4 ± 71.1 vs 149.2 ± 93.8 vs 162.8 ± 109.7; P = 0.107), and QUICKI (0.36 ± 0.03 vs 0.37 ± 0.03 vs 0.37 ± 0.03; P = 0.877) values. The logistic regression model showed increased odds of MwA in subjects exposed to the highest tertile of glucose values. This association was confirmed in the adjusted model, in which case subjects with MwA were compared with those with MwoA but not with control subjects.
In contrast to what has been shown by the majority of the available studies, the results of our study do not support the association of migraine with IR. As our study was not population-based and several patients had low disease activity, these findings need further confirmation.
[Show abstract][Hide abstract] ABSTRACT: We have analysed concentrations of the p53 protein in advanced oral carcinomas immunohistochemically and genetically to detect the percentage of overexpression of this antioncogene that indicates a high probability of mutation. This would point to it being a useful prognostic factor, if we consider the importance of the relation between genetic alterations of p53 and poor overall survival. Seventy-five non-consecutive patients with oral squamous cell carcinoma and metastatic nodes were enrolled if there was homogeneity in histopathological grading (G2) of their tumours, and they were treated according to a multidisciplinary treatment plan. Monoclonal antibodies, extraction of DNA, and amplification of the polymerase chain reaction (PCR) were used for the immunohistochemical and genetic analyses. There was a significant inverse correlation between p53 overexpression and response to chemotherapy and a stronger association between high P53 overexpression (%) and a genetic mutation of p53 (p=0.0001). More than 50% overexpression indicated a strong probability of genetic mutation. There was no association between response to chemotherapy and age-groups or TNM classification (p=0.2), but there was a significant one between sex and site of tumour (p<0.001). Three prognostic factors were significantly related to prognosis: site of tumour (p=0.01), response to chemotherapy (p=0.002), and immuno p53 (p=0.0001). A tumour that is characterised by p53 overexpression of more than 50% indicates a poor prognosis.
British Journal of Oral and Maxillofacial Surgery 06/2013; · 2.72 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We evaluated the presence of HtrA1 in maternal plasma of normal pregnancies and of pregnancies complicated by preeclampsia (PE) without and with Intrauterine Growth Restriction (IUGR). We demonstrate that HtrA1 maternal plasma levels show significant different concentrations in first, second and third trimester of gestation and that HtrA1 concentration increases in maternal plasma of gestations complicated by PE with IUGR compared with control maternal plasma matched for gestational age. Based on these data high maternal plasma levels of HtrA1 could be considered as a possible marker of an occurring IUGR in preeclamptic women.
[Show abstract][Hide abstract] ABSTRACT: To investigate the incidence and describe the characteristics of acute rheumatic fever (ARF) in the pediatric population in a community-based healthcare delivery system of the central Italy region of Abruzzo during 2000-2009.
A retrospective study was conducted in Abruzzo to identify patients aged <18 years with a diagnosis of ARF between January 1, 2000, and December 31, 2009. Each patient's age, sex, date of diagnosis, age at disease presentation, and fulfilled Jones criteria were recorded.
A total of 88 patients meeting the Jones criteria for the diagnosis of ARF were identified, with arthritis in 59.1% of the patients, carditis in 48.9%, erythema marginatum in 11.4%, 5.7% with chorea, and 4.6% with subcutaneous nodules. Residual chronic rheumatic heart disease was present in 44.3% of the children. Age at diagnosis ranged from 2.5 to 17 years (average, 8.7 ± 4.0 years). Twelve children (13.6%) were under age 5 years. The overall incidence rate of ARF was 4.1/100 000. The lowest incidence rate was documented in the year 2000 (2.26/100 000), and the highest in 2006 (5.58/100 000).
Our data indicate that ARF has not disappeared in industrialized countries and still causes significant residual rheumatic heart disease. Pediatricians should routinely consider the diagnoses of streptococcal pharyngitis and ARF to reduce long-term morbidity and mortality.
The Journal of pediatrics 11/2011; 160(5):832-6.e1. · 4.02 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Patient adherence is a key element for therapeutic success and represents a major concern for all healthcare professionals.
Aim of our study was to assess the frequency of use of treatments currently available for psoriasis and its association with specific socio-demographical and clinical variables.
The study population consisted of 1689 patients, aged 12-85 years. Information concerning socio-demographical variables, clinical features and the type of current treatment was collected. Items on patients' satisfaction of current treatments and of dermatologist-patient relationship were also included. The chi-squared test was used to estimate the association between the categorical variables, whereas Wilcoxon and Kruskal-Wallis tests were applied to the interval and ordinal variables. The Cochran-Mantel-Haenszel chi-squared trend test was used to evaluate the degree of satisfaction related to dermatologist-patient relationship.
Of the 1689 psoriatic patients, 54.1% did not use any treatments and 45.9% used at least one treatment. The use of drugs was significantly associated exclusively to severity of disease and affected body surface area. Systemic therapies, both traditional treatments and biological agents, were mainly used in patients with disease duration >10 years and disease severity. Treatment adherence was significantly associated to the degree of patient's satisfaction of his/her relationship with the dermatologist. Alternative treatment such as over the counter medications and acupuncture were used by 33% of patients.
The majority of psoriatic patients do not use any treatments. However, treatment adherence significantly increases when dermatologists clarify the treatment schedule, inform patients and meet the patients' needs.
Journal of the European Academy of Dermatology and Venereology 08/2011; 26(8):976-82. · 2.69 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Dermoscopy has been proved to increase the diagnostic accuracy of basal cell carcinoma (BCC).
To characterize the type and frequency of vascular patterns in superficial and nodular BCCs.
We retrospectively analysed the dermoscopic images of 504 histopathologically proven BCCs.
The most common vascular pattern was represented by arborizing vessels (306/504; 60.7%), which were significantly more frequent in nodular BCCs (nBCCs) compared with superficial BCCs (sBCCs), and in pigmented sBCCs vs. non-pigmented sBCCs (P<0.0001). Short fine telangectasias (SFTs) were found in 33.1% (167/504) of cases and were significantly more frequent in sBCCs compared with nBCCs (P<0.0001). Hairpin vessels were detected in 52/504 (10.3%) BCCs. Minor vascular patterns included glomerular vessels (41/504; 8.1%), dotted (21/504; 4.2%), comma vessels (5/504; 1.0%) and polymorphous pattern (9/504; 1.8%).
Arborizing vessels are prototypic of nBCCs, whereas SFTs are characteristics of sBCCs. Differential diagnosis with squamous cell carcinoma or melanoma is mandatory when a polymorphous pattern is detected.
Journal of the European Academy of Dermatology and Venereology 03/2011; 25(3):358-61. · 2.69 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To validate the Italian version of the Coma Recovery Scale-Revised (CRS-R).
Two observers applied the Italian version of the CRS-R to selected patients. On day 1, observer A and B independently scored each patient; the comparison of their observations was used to evaluate inter-observer agreement. On day 2, observer A completed a second evaluation and the comparison of this observation with that obtained on day 1 by the same observer was used to evaluate test-re-test agreement. For each evaluation, also diagnostic impression (vegetative state/minimally conscious state) was reported.
Thirty-eight patients were evaluated (mean age ± SD, 58.9 ± 13.8 years). Inter-observer (ρ = 0.81; p < 0.001) as well as test-re-test agreement (ρ = 0.97; p < 0.001) for the total score was high. Inter-observer agreement was excellent for the communication sub-scale, good for the auditory, visual and motor sub-scales and moderate for the oromotor/verbal and arousal sub-scales. Test-re-test agreement was excellent for the visual, motor, oromotor/verbal and communication sub-scales, good for the auditory sub-scale and moderate for the arousal sub-scale. When considering the diagnostic impression, inter-observer agreement was good (κ = 0.75; p < 0.001) and test-re-test agreement was excellent (κ = 0.92; p < 0.001).
The Italian version of the CRS-R can be administered reliably and can be also employed to discriminate patients in vegetative and in minimally conscious state.
[Show abstract][Hide abstract] ABSTRACT: Hypoglycemia remains a central problem in the management of type 1 diabetes mellitus (T1DM) and limits the achievement of good or normal glycemic control. The Diabetes Control and Complication Trial showed that intensive treatment of T1DM increased the risk of severe hypoglycemia (SH) when compared to conventional therapy. The aim of our study was to determine the incidence of SH and associated variables in a population of children and adolescents with T1DM.
We performed a 7.5-yr prospective study enrolling 195 patients aged 13.9 ± 6.6 yr. The study was carried out by referring to the T1DM population-based register in the Abruzzo region of Italy. The incidence of SH, defined as blood glucose levels <50 mg/dL (<2.77 mmol/L) associated with altered states of consciousness (including confusional state, seizures, and coma) was recorded. Glycated hemoglobin (HbA1c) percentage, insulin dose, insulin regimen, time since diagnosis, and age at onset were also recorded.
One hundred and thirty-three severe hypoglycemic events occurred during the study period; the overall incidence was 9.4 episodes per 100 patient-years. Significant predictors of hypoglycemia were diabetes duration >10 yr (p = 0.01), basal/bolus insulin ratio (ratio of daily basal insulin units to daily bolus insulin units) >0.8 (p = 0.01). No relationship was found between hypoglycemic episodes and HbA1c levels, daily insulin requirements, or insulin regimen.
In these patients, a relatively low incidence of SH was recorded, without pronounced association with lower HbA1c or multiple daily injection insulin therapy. SH seems to be mainly related to management of diabetes. We believe that the main path to SH prevention is through patient and family education in the management of T1DM.
[Show abstract][Hide abstract] ABSTRACT: The incidence rates of IDDM in Italy show remarkable variability. Sardinia, a region with the second highest incidence rate in the world, co-exists with other regions with lower rates. We review and compare epidemiologic data on the incidence of childhood-onset IDDM in Italy. papers published from 1980 to 1996 reporting incidence data in Italian areas were found by search of Medline and non-indexed Italian journals. The incidence data found cover only 57% of the Italian population. The analysis of our results shows how difficult it is to make a careful study of epidemiology of IDDM in Italy. The RIDI (the Registry for Insulin-dependent Diabetes mellitus in Italy) project started in 1996 according to international guidelines. The aims is to coordinate local IDDM registries, to promote the start of new registries in uncovered areas, and to standardize registration and data collection.
[Show abstract][Hide abstract] ABSTRACT: To investigate age-period-cohort effects on the temporal trend of type 1 diabetes in children age 0-14 years in Italian registries.
This report is based on 5,180 incident cases in the period 1990-2003 from the Registry for Type 1 Diabetes Mellitus in Italy (RIDI). Multilevel (random intercept) Poisson regression models were used to model the effects of sex, age, calendar time, and birth cohorts on temporal trends, taking into account the registry-level variance component.
The incidence rate was 12.26 per 100,000 person-years and significantly higher in boys (13.13 [95% CI 12.66-13.62]) than in girls (11.35 [10.90-11.82]). Large geographical variations in incidence within Italy were evident; incidence was highest in Sardinia, intermediate in Central-Southern Italy, and high in Northern Italy, particularly in the Trento Province, where the incidence rate was 18.67 per 100,000 person-years. An increasing temporal trend was evident (2.94% per year [95% CI 2.22-3.67]). With respect to the calendar period 1990-1992, the incidence rates increased linearly by 15, 27, 35, and 40% in the following time periods (P for trend < 0.001). With respect to the 1987-1993 birth cohort, the incidence rate ratio increased approximately linearly from 0.63 (95% CI 0.54-0.73) in the 1975-1981 cohort to 1.38 (1.06-1.80) in the 1999-2003 cohort. The best model, however, included sex, age, and a linear time trend (drift).
Large geographical variations and an increasing temporal trend in diabetes incidence are evident among type 1 diabetic children in Italy. Age-period-cohort analysis shows that the variation over time has a linear component that cannot be ascribed to either the calendar period or the birth cohort.
[Show abstract][Hide abstract] ABSTRACT: Afebrile seizures in children usually necessitate investigations in order to determine the etiology and estimate the prognosis. Recently, convulsions that are described as benign but afebrile have been documented in children, in association with diarrhea, and are now recognized as a distinct entity. Benign afebrile seizures with mild gastroenteritis are defined as convulsions accompanying symptoms of mild diarrhea without dehydration or electrolyte derangement and without fever before and after the seizures in healthy children without meningitis, encephalitis or encephalopathy. The convulsions are short, symmetrical, generalized tonic-clonic seizures, occurring in clusters. Laboratory studies (full blood count, blood glucose, creatinine, serum electrolytes, cerebrospinal fluid, bacterial and viral cultures) are usually normal, and other investigations (neuroimaging and electroencephalogram) are not necessary. Prognosis is always favorable (normal psychomotor development, no recurrences of seizures), and anticonvulsant therapy is not warranted. Recognition of this benign infantile convulsion avoids extensive evaluation and long-term anticonvulsant therapy; physicians may reassure the parents regarding the lack of long-term sequelae. In conclusion, this type of seizure seems to be a new entity, but it awaits a correct place in the large group of infantile convulsion disorders.
[Show abstract][Hide abstract] ABSTRACT: We evaluated risk factors such as socio-demographic characteristics, smoking habits and alcohol consumption, associated with hypertension, diabetes and obesity in psoriasis patients, in order to plan health education programs that could prevent the onset or progression of co-morbidities. The study population consisted of 1376 patients with psoriasis who were consecutively recruited at 21 Italian Departments of Dermatology. Information concerning socio-demographic variables, smoking and alcohol consumption, and the presence of chronic disorders such as hypertension, type 2 diabetes and obesity was collected. The risk of co-morbidities according to the various exposure variables was calculated using logistic regression models. Psoriasis patients living in extremely urban areas showed the highest risk of diabetes (OR = 1.99, 95% CI 1.06-5.23) and obesity (OR = 2.60, 95% CI 1.10-16.12), as compared to patients living in rural areas. The OR for hypertension was higher for smokers (> 15 cigarettes per day, OR = 1.37, 95% CI 1.01-2.03) and drinkers (> 2 glasses/day of wine, OR = 2.11, 95% CI 1.31-3.40). The OR for diabetes or obesity was higher for drinkers: 1 drink/day (OR = 1.93, 95% CI 1.01-3.67) and > 1 drink/day of spirits (OR = 2.90, 95% CI 1.43-5.82), respectively. The results of our survey highlight the need to detect psoriasis patients with different susceptibilities to co-morbidities in order to plan specific health campaigns aimed at changing people's lifestyles with respect to smoking, drinking and diet.
European journal of dermatology: EJD 02/2009; 19(3):252-6. · 1.95 Impact Factor