Measles outbreak in Grosseto, central Italy, 2006.
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Adolescent↗
Biomedical subjects
P Bonanni
Publications and source records attributed to P Bonanni.
Measurement and reporting of burden of disease for hepatitis A: results of the EUROHEP.NET feasibility survey.
BACKGROUND: European countries use a wide variety of surveillance systems and prevention measures for viral hepatitis. Each system is adapted to the local situation and an overview was never mapped out at European level. The EUROHEP.NET Project is a European Commission-funded feasibility study for a future network on surveillance and prevention of vaccine-preventable hepatitis. We analysed the measurement and reporting of burden of disease for hepatitis A (HA) and B (HB) in the participating countries. METHODS: Twenty-eight countries were invited to participate in this study. An online survey was available from the project's website (www.eurohep.net). The questions concerned the organisation of the surveillance system, case definition, burden of disease, epidemiology, and vaccination strategies. The responses on data sources and the numeric data related to burden of disease for HA for the period 1997-2001 were analysed. RESULTS: Twenty-two countries completed the survey for hepatitis A. Data on total number of hospitalisations and deaths were available from 17 and 18 countries, respectively, although sometimes not complete. Data on hospitalisation days, number of liver transplants and proportion of these due to HAV were often not available. CONCLUSION: Surveillance systems on burden of disease for hepatitis A show a wide diversity among the participating countries. The introduction of a standardised system of data collection at the European Union level according to ICD-10 but respecting the local current practices is a primary need, especially for data that should be collected in all countries, like hospitalisation and mortality. A link to surveillance databases is also strongly recommended.
Adolescent↗
Hepatitis A booster vaccination: is there a need?
Hepatitis A is one of the most common vaccine-preventable infectious diseases in the world. Effective vaccines against hepatitis A have been available since 1992, and they provide long-term immunity against the infection. However, there is no worldwide consensus on how long protection will last or whether there will be a need for hepatitis A virus (HAV) booster vaccinations in the future. In most countries, booster-vaccination policy is guided by manufacturers' recommendations, national authorities, or both. In June, 2002, a panel of international experts met to review the long-term immunogenicity and protection conferred by HAV vaccine in different population groups. Data have shown that after a full primary vaccination course, protective antibody amounts persist beyond 10 years in healthy individuals, and underlying immune memory provides protection far beyond the duration of anti-HAV antibodies. The group concluded that there is no evidence to lend support to HAV booster vaccination after a full primary vaccination course in a healthy individual. However, further investigations are needed before deciding if boosters can be omitted in special patient-groups.
Adolescent↗
Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus.
Frequency analysis may have some advantages over back-averaging in the neurophysiological assessment of patients with suspected cortical myoclonus in whom myoclonic EMG bursts repeat rhythmically at high frequency. However, the clinical utility of EEG-EMG coherence and related EMG-EMG coherence is not established. Equally, there is an incomplete understanding of the physiology of the systems contributing to the coherence evident between signals in cortical myoclonus. Here we address these issues in an investigation of EEG-EMG and EMG-EMG coupling in proximal and distal muscles of the upper extremities in nine patients with multifocal high frequency rhythmic myoclonus due to non-progressive conditions. We found exaggerated coherence between EEG and contralateral EMG and between pairs of ipsilateral EMG signals. The results of frequency analysis of EMG-EMG mirrored those for EEG-EMG, but the former technique was superior in distinguishing a pathologically exaggerated common drive in distal upper limb muscles. Both techniques were more sensitive than back-averaging. Frequency analysis also revealed important disparities between proximal and distal upper limb muscles. In the latter case, the functional coupling between cortex and muscle was dominated by efferent processes. In contrast, there was considerable inter-individual variation in the extent to which EEG-EMG and EMG-EMG coupling in proximal muscles reflected afferent and efferent loops. Thus, the processes sustaining myoclonic discharges may differ for proximal and distal muscles and between patients.
Adult↗
Factors influencing vaccine uptake in Italy.
In Italy, vaccination of children is regulated by a dual system, that is a certain number of compulsory immunisations, and a number of other facultative vaccinations. This has resulted in a different coverage against infections under the two regimens. While the percentage of immunised children against polio, diphtheria, tetanus and hepatitis B is around 95%, until recently the average coverage with facultative vaccinations was no >50%. Coverage against pertussis has dramatically increased in recent times thanks to the advent of acellular and combined vaccines. Regional programmes that aim to increase coverage against measles, mumps and rubella are presently underway. In order to verify the attitude of mothers towards vaccination, a questionnaire-based study was proposed to women taking their children to vaccination services for mandatory immunisation. The preliminary results on 300 questionnaires show a generally favourable attitude towards vaccines of 80% of mothers. Only 7% of them would not immunise at all their children if vaccinations were not mandatory. Measles and mumps vaccines are considered important by 92% of mothers. However, a high number of both parents and paediatricians still give disproportionate importance to mild intercurrent diseases as a reason to differ immunisation. In the middle-long term, it is likely that Italy will shift to a system of recommended immunisations without compulsion. Before this happens, wide and in-depth campaigns on the benefits of vaccination need to be planned and implemented by central and local health authorities, in order to avoid the risk of a dramatic drop of coverage.
Attitude↗
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330. A maximum multipoint HLOD score of 6.29 was obtained under the hypothesis of genetic heterogeneity. Furthermore, the clustering of chromosome 2q24-linked families in southern Italy may indicate a recent founder effect. In our series, 40% of the families are linked to neither chromosome 19q or 2q loci, suggesting that at least three loci are involved in BFIC. This finding is consistent with other autosomal dominant idiopathic epilepsies in which different genes were found to be implicated.
Chromosome Mapping↗
Vaccination against hepatitis B in health care workers.
Hepatitis B is the most important infectious occupational disease for health care workers. The high risk of being infected is the consequence of the prevalence of virus carriers in the assisted population, the high frequency of exposure to blood and other body fluids and the high contagiousness of hepatitis B virus (HBV). Vaccination is able to prevent the most threatening consequences of the infection (acute disease and chronic carriage) in responders, even after loss of detectable antibodies. Non-responders to the primary series may benefit from administration of up to three more doses of vaccine (40-70% of initial non-responders show seroconversion to the new series). However, newly developed vaccines that seem more immunogenic are presently under evaluation and should further decrease the number of non-immune workers in the near future. In the mean time, coverage with standard vaccines should be improved also by supplying complete information on the risks of hepatitis B and on the safety and efficacy of active immunisation.
Adult↗
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardation. The pattern of inheritance was autosomal dominant with high penetrance. We defined this disorder as autosomal dominant cortical myoclonus and epilepsy (ADCME). All patients had frontotemporal as well as generalized interictal EEG abnormalities. A neurophysiological study of the myoclonus suggested a cortical origin. Back-averaging of the data generated a series of waves with a frequency that mirrored the frequency of EMG bursts. Frequency analysis identified significant peaks with coherence between EMG and EEG, which were recorded over the contralateral rolandic area in five patients. The frequency of coherence was 8-25 Hz and phase spectra confirmed that EEG activity preceded EMG activity by 8-15 ms. In two individuals there was also significant coherence between the ipsilateral EEG and EMG, consistent with the transcallosal spread of myoclonic activity. The C-reflex at rest was enhanced and somatosensory and visual evoked potentials were of high amplitude. The resting motor threshold intensity to transcranial magnetic stimulation was significantly reduced (38%; SD +/- 7; P = 0.01) and the post-motor evoked potential silent period (101 ms; SEM +/- 10) was significantly shortened compared with the controls (137 ms; SEM +/- 18). These clinical and neuro- physiological characteristics suggest diffuse cortical hyperexcitability and high propensity for intra-hemispheric and inter-hemispheric cortical spread, as well as rhythmic myoclonic activity. Genome-wide linkage analysis identified a critical region spanning 12.4 cM between markers D2S2161 and D2S1897 in 2p11.1-q12.2, with a maximum two-point LOD score of 3.46 at Theta 0.0 for marker D2S2175. Multipoint LOD score values, reaching 3.74 around D2S2175, localize the ADCME gene to the centromeric region of chromosome 2. The exclusion of the locus for familial adult myoclonic epilepsy on chromosome 8q23.3-q24 from linkage to our family and the new localization of the responsible gene to chromosome 2cen, together with the different phenotype, define a new epilepsy syndrome. We hypothesize that the responsible gene causes cortical hyperexcitability that is widespread but particularly involves the frontotemporal circuits.
Adult↗
Prevalence of hepatitis A virus infection in sewage plant workers of Central Italy: is indication for vaccination justified?
Prevalence of antibodies to hepatitis A virus (HAV) was studied in a group of 65 sewage plant workers living in Tuscany, Central Italy. In order to evaluate the effect of several confounders (age, place of birth, income, educational degree, sea-food consumption, etc.), subjects under study were matched with 160 other workers residing in the same area. Anti-HAV was detected in about 51% of sewage workers and 44% of other employees. The difference was not statistically significant. Both univariate and multivariate analysis showed that the main variables related to previous HAV infection were increasing age (P<0.001), birth in Southern Italy (P<0.01) and lower educational degree (P<0.001). Although other studies in Northern and Central Europe showed a slightly higher risk of infection in sewage workers versus general population, lack of evidence of occupational risk in Italy might be explained by the relative importance of a higher degree of viral circulation in the past. The changing epidemiology of HAV infection in Italy with increasing numbers of susceptibles in adults and the potential occupational risk suggest that the present indication to immunize sewage plant workers against hepatitis A should be maintained.
Adult↗
Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
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Chorea↗
Lack of cortical contrast gain control in human photosensitive epilepsy.
Television and video games may be powerful triggers for visually induced epileptic seizures. To better understand the triggering elements of visual stimuli and cortical mechanisms of hyperexcitability, we examined eleven patients with idiopathic photosensitive epilepsy by recording visually evoked potentials (VEPs) in response to temporally modulated patterns of different contrast. For stimuli of low-medium, but not high, temporal frequency, the contrast dependence of VEP amplitude and latency is remarkably abnormal for luminance contrast (black-white), but not so for chromatic contrast (equiluminant red-green) stimuli. We conclude that cortical mechanisms of contrast gain control for pattern stimuli of relatively low temporal frequency and high luminance contrast are lacking or severely impaired in photosensitive subjects.
Adolescent↗
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic facial dysmorphism. Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features.
Adolescent↗
Demographic impact of vaccination: a review.
Vaccination is one of the most powerful means to save lives and to increase the level of health of mankind. However, the impact of immunization against the most threatening infectious agents on life expectancy has been the object of a still open debate. The main issues are: the relative influence of nutrition and infectious diseases on demographic patterns of populations; the possibility that lives saved thanks to vaccination are subsequently lost due to other competing causes of death; the positive indirect effect of immunization on other causes of death. With regard to past evidence, several data from the United Kingdom and Scandinavian countries show that the widespread use of smallpox vaccination starting at the beginning of the nineteenth century resulted in a marked and sustained decline not only of smallpox-related deaths, but also of the overall crude death rate, and contributed greatly to an unprecedented growth of European population. As to the present, it is estimated that 3 million children are saved annually by vaccination, but 2 million still die because they are not immunized. Tetanus, measles and pertussis are the main vaccine-preventable killers in the first years of life. Data from Bangladesh show that full implementation of EPI vaccines has the potential of reducing mortality by almost one half in children aged 1-4 years. Recent progress in the development of vaccines against agents responsible for much mortality in the developing countries make it possible to forecast a further substantial reduction of deaths for infectious diseases in the next century.
Child, Preschool↗
An economic evaluation of universal pertussis vaccination in Italy.
An economic evaluation was performed of universal acellular pertussis vaccination in Italy, where until recently the overall coverage of pertussis vaccination was estimated at 50%. Over the last two years coverage seems to have increased rapidly. By means of a mathematical simulation model, the consequences of pertussis vaccination in terms of both health effects and economic costs were calculated for a single birth cohort followed for 6 years. Incremental analyses were performed for each additional 10% increase in coverage from 50-90%. The results indicate that a 50% coverage rate of pertussis vaccination in Italy was not optimal on the basis of cost-effectiveness and cost-benefit considerations. Additional increases in coverage were found to yield extra health gains at modest net costs or even potential net savings to the health care sector. For example, an increase in coverage to 90% would yield direct net savings of US$42 per extra vaccinee in comparison to a situation of 50% coverage. The total net savings for this strategy would be well over US$100 per additional vaccinee. In the sensitivity analysis, the positive relationship between incremental coverage and incremental efficiency remained unchanged.
Cost-Benefit Analysis↗
Prevalence of diphtheria toxin antibodies in human sera from a cross-section of the Italian population.
A polycentric study was carried out between 1993 and 1995 in order to evaluate diphtheria immunity on a representative sample of population from different areas of Italy. To determine diphtheria antitoxin, sera from 5187 apparently healthy subjects, divided according to sex and age groups, were titrated using an ELISA indirect method. A basic protective titre of diphtheria antitoxin (> 0.01 IU ml-1) was found in 4080 (78.6%) subjects. No statistically significant differences between males and females were observed. Our findings show that the proportion of susceptibles increases with age and a high proportion of adults no longer has diphtheria antitoxin at protective levels since toxigenic C. diphtheriae circulation is presently lacking in Italy.
Adolescent↗
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). Both the seizures and paroxysmal dystonia had a strong age-related expression that peaked during childhood, whereas the WC, also appearing in childhood, has been stable since diagnosis. Genome-wide linkage analysis performed under the assumption of recessive inheritance identified a common homozygous haplotype in a critical region spanning 6 cM between markers D16S3133 and D16S3131 on chromosome 16, cosegregating with the affected phenotype and producing a multipoint LOD score value of 3.68. Although its features are unique, this syndrome presents striking analogies with the autosomal dominant infantile convulsions and paroxysmal coreoathetosis (ICCA) syndrome, linked to a 10 cM region between D16S401 and D16S517, which entirely includes the 6 cM of the RE-PED-WC critical region. The same gene may be responsible for both RE-PED-WC and ICCA, with specific mutations explaining each of these Mendelian disorders. This report shows that idiopathic focal disorders such as epilepsy and dystonia, can be caused by the same genetic abnormality, may have a transient expression, and may be inherited as an autosomal recessive trait.
Adult↗
Segmental facial myoclonus in moebius syndrome.
Moebius syndrome is characterized by sixth and seventh nerve palsy and is usually the result of bilateral hypoplasia or aplasia of the respective brain stem nuclei. There have been no reports of involuntary facial movements associated with this malformative complex. We report on a 6-year-old boy affected by Moebius syndrome with asymmetric involvement and segmental facial myoclonus with onset at age 2 years, affecting the side with partially conserved motility. Clinical presentation included congenital peripheral palsy of the right seventh cranial nerve and left-sided rhythmic rising of the upper lip and eyebrow. Surface-electromyography (EMG) of the left levator labii and frontalis muscles showed rhythmic bursting (duration: 150-450 ms; frequency: 1-3 Hz). Electroencephalographic (EEG)-polygraphic recordings and burst-locked EEG averaging failed to show any consistent EEG activity preceding the EMG bursts. Study of the blink reflex, somatosensory and motor-evoked potentials showed findings consistent with pontine pathology. Segmental facial myoclonus, although extremely rare in children, must be differentiated from several other paroxysmal motor manifestations associated with structural lesions involving the brain stem. Segmental facial myoclonus stem-Structural lesion.
Child↗
Impact of routine infant and adolescent hepatitis B vaccination in Tuscany, Central Italy.
BACKGROUND: In Italy routine infant and adolescent immunization against hepatitis B was introduced in 1991. OBJECTIVE: Evaluation of (1) coverage with three doses of hepatitis B vaccine in infants and adolescents; (2) seroconversion to anti-hepatitis B surface antigen antibody (anti-HBs) in adolescents receiving three doses of vaccine; (3) concordance of coverage rates in infants with prevalence of neutralizing antibodies in sera from anonymous children; (4) trend of notified cases of acute hepatitis B. METHODS: A sample of infants and adolescents living in Tuscany was studied during 6 years (1992 through 1997) by matching birth records and immunization certificates. Sera from 139 adolescents who completed the vaccination course and from 159 anonymous children belonging to immunized cohorts (1 to 5 years) were tested with a quantitative anti-HBs assay. Incidence of acute hepatitis B by age was calculated from regional statistics on notified infectious diseases between 1992 and 1996. RESULTS: Overall 10,606/11,164 (95%) infants and 10,599/11,100 (95%) adolescents received 3 doses of vaccine. Seroconversion to anti-HBs was detected in 98% of adolescent vaccinees. Anti-HBs titers > or =10 IU/l were detected in 87% of children. A 49% decline of acute hepatitis B cases was registered between 1992 and 1996 in 15- to 24-year-olds living in Tuscany. No case occurred in vaccinated adolescents. CONCLUSIONS: Coverage against hepatitis B is excellent in cohorts subject to mandatory immunization. If efforts to vaccinate are maintained at these levels, elimination of hepatitis B virus transmission could occur within few decades in Italy.
Adolescent↗