Biomedical subjects

M Bugiani

Publications and source records attributed to M Bugiani.

At least 19 recordsLinked to original sources

PubMed2006

A scale to monitor progression and treatment of mitochondrial disease in children.

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others, additional factors, including the nature and severity of the molecular defect, must be considered. To date, no large-scale studies have attempted to document the natural history of paediatric mitochondrial disease. This is in part at least, because no assessment tool has been available to plot the temporal course of a disease with such a diverse clinical spectrum. This paper describes how a practical and semi-quantitative rating scale has been devised for children with mitochondrial disease, the Newcastle paediatric mitochondrial disease scale (NPMDS). The scale is multi-dimensional and reproducible, offering a tool through which mitochondrial disease progression can be objectively monitored. We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions.

Adolescent↗

PubMed2006

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

BACKGROUND: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD. OBJECTIVES: To evaluate the impact of mutations in the GJA12 gene in, and define the clinical and neuroimaging features of, autosomal recessive PMLD. RESULTS: The authors screened for GJA12 mutations in 10 additional PMLD families originating from Italy, Pakistan, and Saudi Arabia. Three novel homozygous GJA12 mutations were identified in 12 mutant cases distributed in 3 of 10 families. The mutations segregated with the disease according to an autosomal recessive trait and included one missense (G236S) and two nonsense (L281fs285X and P131fs144X) changes. CONCLUSIONS: The identification of homozygous mutations predicting the synthesis of aberrant and truncated polypeptides, and their tight segregation with the disease in very large families, clearly demonstrate that the loss of Cx47 function is the cause of the disease. The phenotype of GJA12-related Pelizaeus-Merzbacher-like disease is fairly homogeneous and similar to that of Pelizaeus-Merzbacher disease. However, slower progression of symptoms, greater preservation of cognitive functions, and partial myelination of corticospinal tracts at MRI were distinctive features, which could help in the differential diagnosis.

Adolescent↗

PubMed2006

Impact of immigration and HIV infection on tuberculosis incidence in an area of low tuberculosis prevalence.

The aim of this study is to assess the effects of immigration from countries with a high prevalence of tuberculosis (HPCs), of HIV/AIDS prevalence, and the ageing of the indigenous population, on tuberculosis distribution in a low-prevalence area (LPCs), the Piedmont Region of Italy. Tuberculosis incidence and HIV cases were identified by linking records from the surveillance systems. Overall, 640 tuberculosis cases were identified and crude annual incidence was found to be 17.3/100000. The incidence rate ratio for HIV infection as a risk factor for tuberculosis (11.4 and 51.9 among individuals from HPCs and LPCs respectively) was greater than that for immigration from HPCs (6.7 and 30.9 among HIV+ and HIV- individuals). Immigration accounted for a larger number of incident cases [population attributable risk % (PAR %): 31.8 and 52.8% among HIV+ and HIV- individuals] than did HIV infection (PAR %: 5.4 and 11.1% among individuals from HPCs and LPCs). Efforts should be made to identify and treat young immigrants from HPCs.

AIDS-Related Opportunistic Infections↗

PubMed2006

Childhood-onset multifocal motor neuropathy with conduction blocks.

Multifocal motor neuropathy (MMN) is an acquired disorder with onset in adulthood. The authors describe a patient with a slowly progressing distal upper limb motor neuropathy since age 6 years, in whom definite conduction blocks in upper limbs, outside common entrapment sites, and no sensory involvement were consistent with MMN. IV immunoglobulin treatment produced marked muscle strength improvement and conduction block disappearance. MMN diagnosis should also be considered in childhood.

Age of Onset↗

PubMed2006

Undetected burden of tuberculosis in a low-prevalence area.

SETTING: Under-ascertainment and under-reporting of tuberculosis (TB) hampers surveillance and control. Case detection is improved by record linkage of case registers and under-reporting can be estimated by capture-recapture (CR) analysis. OBJECTIVES: To assess the completeness of the TB registration systems and estimation of TB incidence and under-reporting in the Piedmont Region of Italy in 2001. METHODS: Record linkage of the 'physician notification system', the TB laboratory register and the hospital records register, and subsequent three-sample CR analysis. RESULTS: Record linkage identified 657 TB cases; CR analysis estimated 47 (95%CI 31-71) unrecorded cases. Under-reporting of the 'physician notification system' was estimated at 21% (95%CI 20-23). The overall estimated TB incidence rate was 16.7 cases per 100000 population (95%CI 16.3-17.3), varying according to the subset investigated: 12.7 for individuals from low TB prevalence countries and 214.1 for immigrants from high TB prevalence countries; 13.1 and 25.8 for persons aged < and > or = 60 years, respectively; and 32.1 in Turin, the regional capital and 10.8 in the rest of the region. CONCLUSIONS: When multiple recording systems are available, record linkage and CR analysis can be used to assess TB incidence and the completeness of different registers, contributing to a more accurate surveillance of local TB epidemiology.

Adolescent↗

PubMed2005

Allergic rhinitis and asthma comorbidity in a survey of young adults in Italy.

BACKGROUND: Several studies have provided evidence of a strong association between asthma and allergic or nonallergic rhinitis, leading to the hypothesis that allergic rhinitis (AR) and asthma represent a continuum of the same disease. AIM THE AIMS OF OUR STUDY WERE: (i) to measure the comorbidity of AR and asthma and asthma-like symptoms and (ii) to assess whether asthma, AR, and their coexistence share a common pattern of individual risk factors. METHODS: The subjects are participants from the Italian multicentre, cross-sectional survey on respiratory symptoms in the young adult general population (Italian Study of Asthma in Young Adults, ISAYA). The relationship between individual risk factors and asthma, AR and their coexistence, was studied by means of a multinomial logistic regression. RESULTS: About 60% of asthmatics reported AR. On the other hand, subjects with AR presented an eightfold risk of having asthma compared to subjects without AR. Age was negatively associated with asthma [OR = 0.89, 95% confidence interval (CI): 0.82-0.96], AR (OR = 0.92, 95% CI: 0.86-0.98), and asthma associated with AR (OR = 0.83, 95% CI: 0.79-0.88). The risk of AR without asthma was significantly higher in the upper social classes (OR = 1.23, 95% CI: 1.08-1.39). Active current smoking exposure was positively associated with asthma alone (OR = 1.24, 95% CI: 1.09-1.41) and negatively associated with AR with (OR = 0.69, 95% CI: 0.54-0.88) or without (OR = 0.76, 95% CI: 0.69-0.84) asthma. CONCLUSIONS: Asthma and AR coexist in a substantial percentage of patients; bronchial asthma and AR, when associated, seem to share the same risk factors as AR alone while asthma without AR seems to be a different condition, at least with respect to some relevant risk factors.

Adult↗

PubMed2005

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.

Adolescent↗

PubMed2005

Changes in the use of anti-asthmatic medication in an international cohort.

The aim of this study was to describe changes in pharmacotherapy for asthma since the early 1990s in an international cohort of young and middle-aged adults. A total of 28 centres from 14 countries participated in a longitudinal study. The study included 8,829 subjects with a mean follow-up time of 8.7 yrs. Change in the prevalence of use for medication was expressed as absolute net change (95% confidence interval) standardised to a 10-yr period. The use of anti-asthmatics was found to have increased by 3.1% (2.4-3.7%) and the prevalence of symptomatic asthma by 4.0% (3.5-4.5%). In the sample with asthma in both surveys (n=423), the use of inhaled corticosteroids increased by 12.2% (6.6-17.8%). Despite this, only 17.2% were using inhaled corticosteroids on a daily basis at follow-up. Females with continuous asthma were more likely, compared with males, and smokers with asthma, to have started using inhaled corticosteroids since the first survey. The use of anti-asthmatics has increased in a pattern consistent with current consensus on treatment. However, despite increased use of inhaled corticosteroids, a large majority of subjects with symptomatic asthma do not use this treatment on a daily basis, particularly males and smokers with asthma.

Administration, Inhalation↗

PubMed2005

Changing prevalence of asthma in Turin school children between 1994 and 1999.

BACKGROUND: Asthma is a widespread chronic disorder in children and its prevalence has been on the increase in Europe. Only few studies have described the prevalence variation in respiratory symptoms in Italian regions. The aim of this study, conducted in Turin during the 1998/1999 school year, is to investigate the distribution of respiratory symptoms in a sample of Turin school children and to compare the obtained results with the findings of the SIDRIA study performed in 1994-95. METHODS: The sample in study is composed of all the children attending to three elementary schools in Turin. All of the selected schools had already participated in the 94-95 ISAAC-SIDRIA study. A total of 448 pupils aged 6-10 years received a standardised questionnaire to be filled by parents. RESULTS: Response rate is higher than 97% in all the studies. In 1999 we found that the prevalence of wheezing in the past 12 months was 7.3%. The 13.3% of children had asthma at least once in life and the 5.3% reported an attack in the last year. The comparison of our study results with the ISAAC-SIDRIA (1994-95) shows that the prevalence of asthma and asthma-like symptoms is rather stable among children, while the prevalence of bronchitis reveals a reduction of about 5.5%, but not statistically significant (p=0.094; 95%CI:-11.9;0.9). A considerable reduction in exposure to parents' passive smoke is shown: deltaP%=-4.7 (95%CI: -9.4;-0.1) for maternal smoking in pregnancy, deltaP%=-8.2 and -15.2, respectively for maternal and paternal smoking in the first two years of life. CONCLUSIONS: The results indicate a stable prevalence rate in asthma symptoms in children. A possible explanation of slight variation in asthma prevalence may be due to a reduced exposure to outdoor and indoor risk factors as reported in the questionnaires.

Asthma↗

PubMed2005

Management of multidrug-resistant tuberculosis in Italy.

SETTING: SMIRA (Italian Study on Anti-Tuberculosis Drug Resistance) network, 46 major clinical units and 22 laboratories nationwide in Italy. OBJECTIVES: To determine the main features, adherence to WHO guidelines and the outcomes of multidrug-resistant tuberculosis (MDR-TB) patients enrolled from January 1995 to December 1999. DESIGN: Observational study, preceded by proficiency testing, according to WHO recommendations. Results were stratified by appropriate and inappropriate regimens (< three active drugs). Analysis of the outcomes was performed according to adequacy of treatment. Analysis of risk factors and factors predicting treatment outcomes was performed using univariate and multivariate analysis (level of significance P < 0.05). RESULTS: One hundred and twenty-seven MDR patients were diagnosed. The overall success rate was low (39%). Seventy per cent of cases were treated with at least three active drugs. Factors predicting treatment success were new MDR-TB cases (OR 3.45; 95% CI 1.22-9.78; P < 0.05) and treatment for > or = 12 months (OR 5.03; 95% CI 1.65-15. 31; P < 0.05). Immigration and HIV infection were the main risk factors among new MDR-TB cases. CONCLUSION: The best available treatment should be provided to all newly diagnosed MDR-TB patients, avoiding the use of poorly modified regimens. MDR-TB patients should be referred to highly specialised centres.

Adult↗

PubMed2004

Clinical and molecular findings in children with complex I deficiency.

Isolated complex I deficiency, the most frequent OXPHOS disorder in infants and children, is genetically heterogeneous. Mutations have been found in seven mitochondrial DNA (mtDNA) and eight nuclear DNA encoded subunits, respectively, but in most of the cases the genetic basis of the biochemical defect is unknown. We analyzed the entire mtDNA and 11 nuclear encoded complex I subunits in 23 isolated complex I-deficient children, classified into five clinical groups: Leigh syndrome, progressive leukoencephalopathy, neonatal cardiomyopathy, severe infantile lactic acidosis, and a miscellaneous group of unspecified encephalomyopathies. A genetic definition was reached in eight patients (35%). Mutations in mtDNA were found in six out of eight children with Leigh syndrome, indicating a prevalent association between this phenotype and abnormalities in ND genes. In two patients with leukoencephalopathy, homozygous mutations were detected in two different nuclear-encoded complex I genes, including a novel transition in NDUFS1 subunit. In addition to these, a child affected by mitochondrial encephalomyopathy had heterozygous mutations in NDUFA8 and NDUFS2 genes, while another child with neonatal cardiomyopathy had a complex rearrangement in a single NDUFS7 allele. The latter cases suggest the possibility of unconventional patterns of inheritance in complex I defects.

Acidosis, Lactic↗

PubMed2004

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of L-2-hydroxyglutaric acid in body fluids. The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis.

Adolescent↗

PubMed2004

The role of climate on the geographic variability of asthma, allergic rhinitis and respiratory symptoms: results from the Italian study of asthma in young adults.

BACKGROUND: Variations in the prevalence of respiratory symptoms according to geo-climatic factors could provide important clues to the knowledge of the aetiology of asthma. METHODS: Geo-climatic variations in the prevalence of current asthma, allergic rhinitis and chronic cough, and phlegm were assessed on a random sample of 18 873 subjects (response rate = 72.7%) from different climatic regions of Italy. An ecological analysis, supported by robust statistical methods, was employed to investigate potential trends. RESULTS: The prevalence of all symptoms was significantly heterogeneous throughout the peninsula. Only asthma-like symptoms showed a north-south trend: the prevalence increased at a decreasing latitude [odds ratio (OR) varies from 0.92 to 0.96, P < 0.05], at a decreasing distance from the sea (OR: 0.90-0.93 for 30 km distance, P < 0.05), at higher annual mean temperatures (OR: 1.11-1.14, P < 0.05) and at smaller annual temperature ranges (OR: 0.94-0.95, P < 0.05). Of the geo-climatic variables considered, temperature range had the greatest influence on most asthma-like symptoms. No association was found between geo-climatic variables and allergic rhinitis or chronic cough and phlegm. CONCLUSIONS: Asthma prevalence seems to be significantly affected by climate as asthma-like symptoms were more common in central-southern Italy, with a Mediterranean climate, than in areas with a continental climate (northern Italy).

Adult↗

PubMed2004

Tuberculosis incidence in Turin, Italy, 1973-1999.

SETTING: Turin, Italy, 1973-1999. OBJECTIVE: To estimate tuberculosis (TB) incidence rates in Turin between 1973 and 1999. DESIGN: Incidence study. An active search of new TB cases was carried out by examining the clinical records of the three major TB care services in the city. New cases were defined as patients treated for the first time. To evaluate the completeness of this series, data were linked with the TB Notification Register and the Regional Hospital Discharges Register for the years 1997-1999. RESULTS: TB incidence rates declined from 25.6 cases per 100,000 population in 1973 to 6.4 in 1999. TB/human immunodeficiency virus (HIV) co-infection increased after 1985, reaching a peak (16.5%) in 1994-1996, and significantly decreasing in 1997-1999. Foreign-born cases started to increase after 1988, reaching 25.8% of total cases in 1997-1999. TB infections in Italian-born, non-HIV-infected cases occurred mostly among the elderly, while HIV/TB co-infections and TB in immigrants occurred mostly in younger age groups. The study captured 59% of cases diagnosed in Turin in 1997-1999. CONCLUSIONS: In recent years, new cases of TB have been diagnosed mostly among HIV-positive people and immigrants. Preventive and control strategies should focus on these population groups, improving quick identification and effective treatment of cases, and implementing accessible services.

Acquired Immunodeficiency Syndrome↗

PubMed2003

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic disorder featuring diffuse MRI white matter abnormalities and a discrepantly mild clinical picture. It is related to different mutations in MLC1 gene encoding a putative membrane protein of still unknown function. We report on a genetically proven MLC patient who presented with a peculiar clinical course characterized by a prolonged comatose state following a minor head trauma at 12 years of age. The disturbance of consciousness lasted for over four months and then gradually improved. Proton MR spectroscopic imaging studies showed a moderately severe depletion of N-acetylaspartate restricted to the white matter with sparing of the cortical grey matter. The full recovery from coma suggests a transitory functional impairment of the structures implicated in the maintenance of consciousness.

Brain Diseases↗

PubMed2003

Tuberculin reactivity in adult BCG-vaccinated subjects: a cross-sectional study.

INTRODUCTION: Interpretation of the tuberculin skin test (TST) may be complicated by prior bacille Calmette-Guérin (BCG) vaccination. The skin reaction to the vaccination interferes with the management of individuals who may be infected with Mycobacterium tuberculosis. OBJECTIVE: To discriminate between TST reactions due to infection and those due to vaccination in subjects with unknown BCG status. METHODS: Among 60200 subjects tested with 5TU PPD for screening purposes, 4987 contacts of infectious TB cases (Group A), 4962 BCG-vaccinated subjects (Group B) and 5000 subjects from the general population (Group C) were sampled. The frequencies of TST cut-off diameters were calculated for the three groups using a logistic regression model. The frequency of positive subjects in each group and the sensitivity, specificity and predictive values were also computed by means of these cut-offs. RESULTS: The risk of being a contact versus BCG-vaccinated increases 2.43-fold with every mm of TST diameter. The 11 mm cut-off point seems to be the best discriminating value. CONCLUSIONS: Using the traditional 10 mm cut-off, we can consider all vaccinated subjects with a positive TST to be infected. The TST remains a valuable tool for the evaluation of household contacts and suspected cases of tuberculosis in BCG-vaccinated subjects and in populations with high vaccination coverage.

Adolescent↗

PubMed2002

Prevalence and features of allergic rhinitis in Italy.

BACKGROUND: Italian data on the prevalence of allergic rhinitis are sparse and with wide variations, maybe because of different diagnostic criteria and methods of investigation. This study analyzes the information on rhinitis collected in northern Italy through standardized methods within the European Community Respiratory Health Survey. METHODS: A screening questionnaire was sent by mail to a random sample of the general population aged 20-44 years, and nonresponders were contacted again by phone, achieving a final response rate of 86% (6031/7000). Among the responders, 914 randomly selected underwent a standardized clinical interview, skin prick test (SPT) and total and specific immunoglobulin (Ig)E determination. RESULTS: The overall prevalence of self-reported allergic rhinitis was 15.9% (95% CI 15.0-16.8%). Allergic rhinitis was more common in men below 35 years and in women older than that (P = 0.006), in urban areas (P < 0.001) and in early responders (P < 0.001). A larger percentage of subjects (37.7%) reported nasal symptoms when exposed to indoor or outdoor allergens. Atopy was present in 79% of the subjects reporting allergic rhinitis. CONCLUSIONS: This study demonstrates that the prevalence of allergic rhinitis in northern Italy is similar to the prevalence observed in other European countries and that this disease is more common in urban areas.

Adult↗

PubMed2002

The impact of climate and traffic-related NO2 on the prevalence of asthma and allergic rhinitis in Italy.

BACKGROUND: Environmental factors are likely to be involved in explaining the wide geographical variation in asthma and atopic diseases that has been documented in many recent epidemiological studies. AIM: To evaluate to what extent climate and outdoor NO2 pollution can explain the geographical variation in the prevalence of asthma and allergic rhinitis, and to estimate the relative risk for exposure to different levels of these two factors. METHODS: The impact of climate and long-term exposure to nitrogen dioxide (NO2) pollution on asthma and allergic rhinitis was assessed in a cross-sectional study, carried out during 1998 to 2000 on young adults aged 20 to 44 years (n = 18 873), living in 13 areas from two different Italian climatic regions (subcontinental and Mediterranean). RESULTS: Mediterranean areas had a significantly higher prevalence of asthma-like symptoms (P < 0.001), higher annual mean temperature (16.2 degrees C vs. 12.9 degrees C), lower temperature range (16.0 C degrees vs. 22.1 degrees C) and lower NO2 levels (31.46 microg/m3 vs. 57.99 microg/m3) than subcontinental ones. Mediterranean climate was associated with an increased risk of wheeze (OR = 1.23; 95% CI 1.13 to 1.35), tightness in the chest (OR = 1.21; 95% CI 1.11 to 1.33), shortness of breath (OR = 1.21; 95% CI 1.08 to 1.36) and asthma attacks (OR = 1.19; 95% CI 1.07 to 1.31). After adjusting for climate, an increase of 18.3 microg/m3 in NO2 levels moderately increased the risk of asthma attacks (OR = 1.13; 95% CI 0.98 to 1.32), tightness in the chest (OR = 1.11; 95% CI 0.98 to 1.26) and wheeze (OR = 1.11; 95% CI 0.96 to 1.28). When the levels of outdoor NO2 exposure rose, the prevalence of allergic rhinitis increased significantly in the Mediterranean region (OR = 1.38; 95% CI 1.12 to 1.69), but not in the subcontinental one (OR = 1.03; 95% CI 0.83 to 1.28). CONCLUSION: Our results show that the prevalence of asthma increases when annual mean temperature increases and temperature range decreases. Furthermore, climate interacts with NO2 outdoor exposure, increasing the risk for allergic rhinitis in people exposed to high stable temperatures. A long-term role for the effect of traffic pollution on asthma is also suggested.

Adult↗