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Biomedical subjects

S Tiberti

Publications and source records attributed to S Tiberti.

13 recordsLinked to original sources
PubMed2005

HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study.

The objective was to evaluate HLA DR/DQ alleles and their risk factor for type 1 diabetes in the Abruzzo region (central Italy). Sixty incident cases from the Abruzzo region were studied together with 120 unrelated control subjects living in the same administrative areas. The relative risk of diabetes associated with the alleles under study was calculated by deriving the odds ratio (OR) maximum likelihood estimates and their 95% confidence intervals (CI) by the exponentiation of the logistic regression beta-parameter. The combination DRB1*03/DQA1*0501/DQB1*0201 was found in 20.0% of patients and 7.1% of the control subjects, conferring an OR of 4.04 and a CI of 1.97-8.49. The combination DRB1*04/DQA1*0301/DQB1*0302 was found in 23.3% of diabetic patients and 6.7% of controls, giving an OR of 5.69 and a CI of 2.77-12.05. DRB1*11/DQA1*0505/DQB1*0301 and DQA1*0505/DQB1*0301 were negatively associated with type 1 diabetes (OR=0.27, CI 0.11-0.57; OR=0.07, CI 0.02-0.19). The DQA1 genotype at risk was found to be DQA1*0301/DQA1*0501: OR=23.80, CI 2.97-190.89, as it occurred with the highest frequency in the patient group. The DQB1 genotype at risk was found to be DQB1*0201/DQB1*0302, which occurred in 13.3% of patients but in only 1.1% of the control group (OR=29.75, CI 5.36-549.25). Our results shed further light on the risk of development of this disease during a specific time period in an area where the overall incidence of type 1 diabetes is known.

Alleles↗
PubMed2000

Family and disease management in young type 1 diabetic patients.

The main objectives of type 1 diabetes mellitus (DM) management include keeping glycemia levels within the euglycemic range to prevent complications. Daily self-monitoring is an important problem for many diabetic patients, particularly for adolescents. The aim of this study was to evaluate the determinants of poor daily self-monitoring, focusing on the patients' parents' perception of the problem. In order to evaluate parents' awareness of their children's disease-monitoring status, we carried out a cross-sectional investigation of a sample of children and adolescents from a population-based register, with the corresponding population of parents. To collect our data, we used a 33-item questionnaire, separately administered by diabetologists to both parents and children. We estimated the concordance with respect to patients' and parents' answers. Adolescents followed their overall medical prescriptions more regularly (48.8%) than children (29.7%), but most frequently they forgot to use glycemic tests (adolescents 42.4%, children 29.7%). A major duration of disease affected HbA1c levels (values > 8%) of patients younger than 14 years (pFisher = 0.016). Our results indicate a worse compliance of adolescents with respect to children in attending to daily self-monitoring, not just regarding daily glycemic levels but also the course of daily activities such as going to school, studying, working, and simulating symptoms and signs of hypo-hyperglycemia. Parents mostly ignored their child's self-monitoring status and the related motivations.

Adolescent↗
PubMed1998

Benign partial epilepsy in infancy with complex partial seizures (Watanabe's syndrome): 12 non-Japanese new cases.

International epilepsy classification includes different epileptic syndromes with favourable outcomes in pediatric age. In addition to these, other forms probably exist and in various papers in international literature they are proposed as new entities. This article presents a survey of benign complex partial epilepsy in infancy, a new epileptic syndrome first proposed by Watanabe, in 1987. Our work represents the only description of non-Japanese cases although similar but familial cases had been referred by Vigevano in 1992. We present data for 12 children (aged up to 9 years) followed over 2 years who had all the typical clinical features characterizing Watanabe's cases. For all of them we obtained EEG seizure recordings demonstrating the partial nature of their fits, arising from occipital or temporal regions. Interictal EEG were completely normal, both in waking and sleep. Evolution demonstrated benign outcome and all the children are seizure-free (eight of them have already stopped all medication) and all have normal psychomotor development.

Age of Onset↗
PubMed1996

Intravenous immune globulin in the treatment of intractable childhood epilepsy.

Many clinical and experimental data strongly support the role of immune mechanisms in the pathogenesis of childhood epilepsy. Following Pechadre's first observations with intramuscular immune globulin (IMIG), intravenous immune globulin (IVIG) has been employed in some forms of intractable childhood epilepsy (ICE), mainly in West syndrome (WS) and Lennox Gastaut syndrome (LGS), with good results. So far, 373 children suffering from ICE have been treated in 29 studies and 174 have responded favourably. Although these studies are heterogeneous and controls are lacking, most authors report similar responsiveness ranging from 30% to 50%. Several mechanisms have been suggested to account for the efficacy of IVIG in ICE including antiviral effect, substitutive therapy in patients with concomitant humoral immunodeficiency, idiotype-anti-idiotype interaction or a neuromodulant effect. To better define the real efficacy of IVIG in ICE in paediatric patients, a randomized, multicenter, double-blind clinical trial was started in 1993, including only patients suffering from WS and LGS. To date, only one double-blind trial had been carried out (with both adult and paediatric patients); it showed a clear trend in favour of IVIG treatment but lacked statistical significance, perhaps because of the small and heterogeneous sample. Controlled multicentre studies on well-defined populations are needed and patients with WS and LGS are probably the best candidates.

Adolescent↗
PubMed1993

Intravenous immunoglobulin in two children with Guillain-Barré syndrome.

Two children with Guillain-Barrè syndrome were successfully treated with high-dose intravenous immunoglobulin (IVIG) and no relapses occurred over a 1 year follow up. No side-effects were observed. These data provide further evidence that IVIG may be safely and effectively employed in children with Guillain-Barrè syndrome.

Adolescent↗
PubMed1992

Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.

Diagnosis of X-linked adrenoleukodystrophy is based upon demonstration of high levels of very long chain fatty acids. More recently, in addition to biochemical analysis, closely linked DNA probe St14 has been used for prenatal diagnosis in informative families. Identification of heterozygotes is particularly important, both in order to specifically address only carrier females to prenatal diagnosis, and because appropriate dietary therapy is now available to treat those heterozygotes presenting with neurological symptoms. We report two pedigrees in which carrier detection was performed by a combination of biochemical and molecular genetic analysis. Such approach should allow extremely high accuracy in carrier detection.

Adrenoleukodystrophy↗
PubMed1986

IgG2 deficiency and intractable epilepsy of childhood.

Twelve children with intractable childhood epilepsy (ICE) were treated with high-dose intravenous immunoglobulins every 21 days for 6 months after immunologic and neurologic evaluations had been carried out. 50% (6/12) were found to have a deficiency of serum IgG2 and all but 1 of these responded to treatment with marked reduction in the daily number of seizures assessed both clinically and electroencephalographically. The response to treatment was, in fact, significantly higher in the children with IgG2 deficiency than in the others. IgG4 deficiency, observed in 5 children, did not affect treatment response. It is suggested that IgG2 deficiency may predispose to some form of viral encephalitis which may trigger an immune mechanism leading to the ICE.

Child↗
PubMedDate not supplied

[Epidemiological monitoring of psychological, neurological and sensory handicaps in the 0-24-year-old Abruzzo population (Italy). Preliminary results].

OBJECTIVE: To describe the setting up of the Abruzzo Region (Italy) Service for Prevention and Epidemiological Register of Handicaps, to show prevalence data of occurring diseases and fit regression models aimed at explicating disease occurrence in terms of risk factors; to discuss services access data in terms of their efficacy in fitting social and health needs. SETTING AND DESIGN: We managed data obtained from a regional information system, based upon primary information sources operating in the Local Health Agencies (i.e. school medicine services, general practitioners, paediatricians, familiar counseling services, rehabilitation centers) and specialistic structures for diagnostic detection (multidisciplinary school équipes, hospital division of infant neuropsychiatry, outpatient infant neuropsychiatry services). The data managing model is a population-based epidemiological register. The target population is the 0-24 years population of the Abruzzo Region. MAIN OUTCOME MEASURES: Occurrence data are expressed as prevalence rates, using standardisation according to the global population of the area of interest. Diagnoses have been defined according to the standard ICD-9 and ICD-10 criteria; definition of handicaps has been made according to the WHO classification (1981). Association between indicator (socio-demographic and anamnestic) variables and occurrence of disease has been fitted by logistic regression models. RESULTS: Prevalence estimates obtained for the main infant neuropsychiatric diseases, as well as for the main handicap-determining genetic and/or congenital diseases, are consistent with the findings of literature in similar settings. An exception is the high occurrence of hyperkinetic disorders in both sexes. Rehabilitation is the main health need for all diagnostic axes. With respect to social needs, school and home personal care seem to be scarcely relevant if related to disease prevalence. Logistic regression analysis indicates socio-economic status and presence of handicapped relatives in the family as factors associated with the occurrence of disease. Respectively, the two factors are negatively associated with the occurrence of hyperkinetic disorders and positively associated with occurrence of mental retardation. Moreover, living in a natural family is negatively associated with evolutive disorders. CONCLUSIONS: This is a report about the preliminary results obtained by a specialised register for infant psychological and neurological handicaps. The findings suggest, as operating indications, the standardisation of diagnostic procedures and the definition of common managing guidelines in different areas. Anyhow, the findings of this report highlight the importance of an epidemiological knowledge of handicap in order to design correct prevention strategies and health services planning.

Adolescent↗
PubMedDate not supplied

[Association between drug, alcohol and tobacco use in adolescents and socio-familiar factors].

Substance abuse is the result of interaction between constitutional, environmental and socio-demographic factors. Several studies have been demonstrated that the adolescent substance abuse is a serious and growing problem. The aim of our study is to investigate the association between substance, alcohol and tobacco abuse and socio-familiar factors, to evaluate a substance abuse prevention program which decreases substance use in adolescents. A cross-sectional survey was developed and carried out by involving a group of adolescents, randomly selected from the secondary school of Teramo province. Data were collected by a self-administered questionnaire. The associations between substance use and the determinants taken into account was evaluated by the chi-square test of Fisher exact test or trend test when appropriated. Our data show that the alcohol abuse is more frequent in males (41.1%, p = 0.000), while the nicotine abuse is more frequent in females (46.1%, p = 0.005). However, our results show that the abuse of alcohol, nicotine, heroine, cocaine and ecstasy is associated to lack of stability in the family, respectively: 61.5% (p = 0.001); 61.5% (p = 0.022); 7.7% (p = 0.018); 7.7% (p = 0.010): 7.7% (p = 0.004). The nicotine abuse is higher in adolescents living with a smoker: 50.3% (p = 0.000). Finally, the substance abuse is higher in adolescents having friends that are drug-addicts, in particular: alcohol 49.6% (p = 0.000), nicotine 43.0% (p = 0.000), cannabis 27.9% (p = 0.000). This survey suggests that the knowledge of factors influencing the initiation, combination and cessation of the use of substance is crucial for the prevention of drug use among adolescents.

Adolescent↗