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Biomedical subjects

Alberto Verrotti

Publications and source records attributed to Alberto Verrotti.

At least 37 records · Page 2Linked to original sources
PubMed2004

Oral mucosa spectrophotometric changes in healthy parents of patients with Down syndrome.

OBJECTIVE: Down syndrome (DS) is one of the most frequent causes of mental retardation. To date, no phenotypical markers in the parents of DS offspring are known. Here, we tested the value of oral mucosal reflectance spectrophotometry in identifying unaffected parents of DS patients (free trisomy 21). METHODS: Oral mucosal reflectance spectrophotometry has been evaluated in 28 parents of DS patients and in 28 gender- and age-matched controls. RESULTS: DS parents showed a significantly lower light reflectance in the red section of the spectrum than control subjects (610-700-nm range; P < 0.0001). No significant differences between DS mothers and DS fathers were observed (P >/= 0.85). CONCLUSION: These findings indicate the presence of a previously unrecognized mucosal reflectance abnormality of the oral mucosa of unaffected parents of DS patients, thus offering a new noninvasive phenotypical marker for this condition. Our observation suggests a new tool for screening subjects at high risk for DS offspring.

Biomarkers↗
PubMed2004

Intermittent oral diazepam prophylaxis in febrile convulsions: its effectiveness for febrile seizure recurrence.

In order to evaluate the effectiveness of diazepam for the reduction in the recurrence of febrile seizures we carried out a prospective study in two groups of children; Group A: 45 children (25 female, 20 male), receiving oral prophylaxis with diazepam, and Group B: 65 children (35 female, 30 male) who did not receive any oral prophylaxis. All subjects of both groups were followed for at least 4 years and finally re-evaluated at the mean age of 6.7+/-1.4 years. Among the patients of Group A, recurrent febrile seizures (FS) occurred in five of the 45 children (11.1%). Among the 65 children of Group B, 20 (30.7%) went on to have one or more additional episodes. In conclusion, our study demonstrates that oral diazepam, given only when fever is present, is an effective means of reducing the risk of recurrences of FS.

Administration, Oral↗
PubMed2004

Plasticizers, infant nutrition and reproductive health.

Since the 1930s, plasticizers have been used to impart flexibility to an otherwise rigid polyvinylchloride (PVC). Di-(2-ethylhexyl)-phthalate (DEHP) is the most widely used plasticizer in PVC formulations. However, DEHP leaks out from PVC items with time and use and consequently it is an ubiquitous environmental contaminant. To date, very little is known about the actual extent of DEHP exposure in infants, who are believed to be the most sensitive population, as they may be exposed to several different sources (breast milk, infant formula, baby food, indoor air, and by dermal and oral exposure via indoor dust containing DEHP) since early in life and since differences in DEHP pharmacokinetics and metabolism between children and adults have been well documented. Little information exists on DEHP dietary exposure, believed to represent a major source and orally administered DEHP is converted more rapidly to MEHP than other routes of exposure. Although DEHP has been shown to induce toxicity in experimental animals, a limited but suggestive human exposure data causes a serious concern that an early in life DEHP exposure may adversely affect male reproductive tract development. Here, we report a review on dietary phthalate exposure in babies.

Adult↗
PubMed2004

Photosensitivity and epilepsy: a follow-up study.

To understand the evolution of photosensitivity and to evaluate if its disappearance is related to the response to anticonvulsant therapy, we performed a long-term study of 42 patients (17 males, 25 females; age at onset 6 years 9 months, SD 5 years 2 months, range 5 years to 12 years 1 month) who had electroencephalography (EEG) evidence of photosensitive epilepsy. Of the patients, 36 were treated with valproate (VPA) monotherapy and four received VPA in combination with other antiepileptic drugs (AEDs), which were carbamazepine and lamotrigine. Two patients were given no drugs, but treated with stimuli avoidance. All patients were investigated with EEG by using intermittent photic stimulation. The photoparoxysmal response indicated the presence of photosensitivity. At the end of follow-up, the photoparoxysmal response had disappeared in 25 patients. Thirty-three patients became seizure-free. Our study confirms that photosensitive epilepsy has a good prognosis for seizure control that is independent of the persistence or disappearance of photosensitivity.

Adolescent↗
PubMed2004

Diabetic neuropathy in children and adolescents.

Diabetic neuropathy (DN) represents a major complication of type 1 diabetes mellitus (T1DM) but there is considerable uncertainty as to its incidence, prevalence, diagnosis and prognosis in pediatric population. Generally, DN is classified as polyneuropathy, focal neuropathy and autonomic neuropathy. The latter seems to be detectable even in asymptomatic children and adolescents with diabetes and is associated with the most serious consequences, such as hypoglycemia unawareness and cardiovascular dysfunction. A near-normal control of blood glucose in the early years after onset of diabetes may delay the development of clinically significant nerve impairment and, therefore, children and adolescents with diabetes represent a critical target for primary prevention of this complication. The aim of this review is to focus on the main clinical, epidemiological and prognostic aspects of DN in children and adolescents with T1DM. Etiopathogenetic theories and diagnostic tools are also reviewed from in a pediatric perspective.

Adolescent↗
PubMed2004

Factors associated with poor control in partial complex epilepsy.

To evaluate the predictive factors of response to anticonvulsant therapy in children with complex partial epilepsy, we studied prospectively 74 children and adolescents suffering from this type of epilepsy. All children were prospectively followed for at least 2 years after the beginning of anticonvulsant therapy. At the end of follow-up, the children were subdivided into two groups according to the frequency of seizures: group A, children who were seizure free in the last year, and group B, children with at least six seizures in the previous year. Children with a poor response to anticonvulsant therapy had a more frequent personal history of neonatal seizures, an interval of less than 6 months between the first and the second seizures, and persistent abnormal electroencephalograms than the seizure-free patients and were often treated with polytherapy.

Age of Onset↗
PubMed2004

Photosensitivity and epilepsy.

Photosensitive epilepsy is a well-known condition characterized by seizures in patients who show photoparoxysmal responses on electroencephalography (EEG) elicited by intermittent photic stimulation. Photoparoxysmal responses can be defined as epileptiform EEG responses to intermittent photic stimulation or to other visual stimuli of everyday life and are frequently found in nonepileptic children. The modern technologic environment has led to a dramatic increase in exposure to potential trigger stimuli; nowadays, television and video games are among the most common triggers in daily life. There is ample evidence for genetic transmission of photoparoxysmal responses; systematic family studies have provided data for an autosomal dominant mode of inheritance with age-dependent penetrance for photosensitivity. The age of maximum penetrance is between 5 and 15 years. The prognosis for control of seizures induced by visual stimulation is generally very good. The large majority of patients do not need anticonvulsant therapy, but, when needed, the drug of choice is valproate. Stimulus avoidance and stimulus modification can be an effective treatment in some patients and can sometimes be combined with antiepileptic drug treatment.

Adolescent↗
PubMed2004

DI-2-ethylhexyl phthalate and endocrine disruption: a review.

Esters of o-phthalic acid are widely distributed in the ecosystem. The phthalate acid esters (PAE's) are used as plasticizers in enormous quantities for a variety of industrial uses in the formulation of plastics. They are also used as solvents in certain industrial processes and as vehicles for pesticides and have been described as being among the most abundant man-made environmental pollutants. Plasticizers have been shown to elute at a constant rate from plastic products to the environment. Increasing chemical use needs a better understanding of how these pollutants may affect human health. In particular, certain members of this chemical class, such as di-[2-ethylhexyl]-phthalate (DEHP), have been shown to cause reproductive and developmental toxicity and are suspected to be endocrine disruptors.

Animals↗
PubMed2004

Role of camping in the treatment of childhood obesity.

Obesity is constantly increasing among children. Since treatment for obesity on outpatient bases often fails, we evaluated whether camps may help to improve eating habits. Forty-one children, 21 males and 20 females (BMI > 97 degrees percentile, weight excess > 30%, Tanner stage I) agreed to participate to a 8 day camp. After 1-year follow-up, measurements carried out by plicometry, bioelectrical impedance, metabolic and hormonal evaluations, showed a significant reduction of skinfolds, as well as glycemic and insulinemic response to the oral glucose tolerance test. These results suggest that camps may help to improve nutritional and physical education and psychological outcome of obese children.

Adrenocorticotropic Hormone↗
PubMed2003

Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome.

CASE REPORT: The 18q-syndrome is sometimes associated with epilepsy. We report a child with a 18q deletion who showed the typical manifestations of the syndrome. In addition, she had benign focal epilepsy with onset in infancy characterized by complex partial seizures with a frequency from 1 to 20 per day. This type of epilepsy is a rare condition and this is the first report of benign focal epilepsy with onset in infancy in a child with 18q-syndrome. The EEGs performed during sleep showed low-voltage spikes over the fronto-central region of the left hemisphere. The magnetic resonance imaging of the brain was normal. CONCLUSION: In conclusion, benign focal epilepsy with onset in infancy could be a condition associated with 18q-syndrome.

Chromosomes, Human, Pair 18↗
PubMed2003

Magnetoencephalography in pediatric neurology and in epileptic syndromes.

In recent years, great advances in the knowledge of neuromagnetism have permitted the application of Superconducting Quantum Interference Devices to the pathophysiologic study of the human brain. In particular, in pediatric neurology, the integration of biomagnetism with magnetic resonance imaging and other techniques for medical imaging have allowed for precise neuromagnetic measurements of the human brain. The more frequently used technique is magnetoencephalography. Recent data have illustrated the usefulness of magnetoencephalography in mapping activity of sensory and motor areas and in studying the spatiotemporal pattern of brain activation specific to somatosensory function. Moreover, magnetoencephalography is an important tool to localize epileptic activity; magnetic source imaging superimposes magnetoencephalographic localizations on the magnetic resonance imaging and yields improved spatial resolution as compared with surface electroencephalography. The role of magnetoencephalography in evaluating patients with epilepsy continues to evolve; in fact, it seems to be very useful in the localization of the epileptogenic zone in patients with partial epilepsy. This application of magnetoencephalography is essential in the selection of epileptic children candidates to surgical treatment of seizures.

Brain Mapping↗
PubMed2003

Infections and risk of type I diabetes in childhood: a population-based case-control study.

OBJECTIVE: This study focuses on the evaluation of some infectious diseases as risk determinants of type I diabetes mellitus (DM). METHODS: A population-based case-control study was carried out by referring to the type I DM population-based register of the Abruzzo region of Italy as it includes all type I DM cases since January 1 1990, the point at which the register became operative. The pediatric population (age: 0-14), living in the same municipalities of the cases, was selected as the control population. Data were collected through questionnaires submitted by a physician to parents of cases and controls. Conditional logistic regression models were used to evaluate association between determinants and onset of type I DM. RESULTS: The risk of diabetes for children exposed to only one infection (morbilli, parotitis, rubella, pertussis or varicella) is not statistically significant: OR: 0.778; CI: 0.427-1.370. On the contrary, when two infections are contracted statistically significant results occur: OR: 2.375; CI: 1.149-4.914; for more than two infections values are: OR: 6.786; CI: 2.881-17.877. No substantial difference in odds ratios (ORs) after adjustment for confounding variables was found. A significant decrease in OR was noted for pertussis and MMR vaccinations, respectively: OR: 0.015; CI: 0.001-0.251; OR: 0.400; CI: 0.201-0.799. CONCLUSIONS: Since the higher the number of contracted infections, the higher the risk of diabetes, contracted infections can be considered potential accelerating factors of clinical manifestation of type I DM. Therefore multiple exposures might speed up the onset of diabetes in children. This study suggests the utility of applying the risk model method to wider populations, especially if the geographical variability of standardised incidence rates of type I DM in pediatric age is taken into consideration.

Adolescent↗
PubMed2003

Risk factors for recurrence of epilepsy and withdrawal of antiepileptic therapy: a practical approach.

In epileptic patients, treated with anticonvulsant drugs (AEDs), the question when and how an attempt should be made to withdraw therapy is a crucial point in the management of these patients. In recent years, many studies have identified the main risk factors for seizure recurrence after discontinuation of AEDs. Patients are more likely to have recurrences if there is a definite symptomatic aetiology, two or more different types of seizures, an abnormal neurological examination and a seizure onset at adolescence or later. In contrast, abnormal EEG has not been proved as a risk factor for recurrence. Moreover, the classification of epilepsy syndromes is another important predictor of the outcome for these patients. In practice, most authors suggest that medication is discontinued after a seizure-free period of two years. In this review we analyse data from the literature and we suggest a practical approach for safe anticonvulsant withdrawal, although the decision should always be made individually, weighing risks and benefits.

Age of Onset↗
PubMed2003

von Willebrand factor and its propeptide in children with diabetes. Relation between endothelial dysfunction and microalbuminuria.

It has been shown that patients with insulin-dependent diabetes mellitus have elevated von Willebrand factor (vWF) plasma concentrations. Plasma fibrinogen, vWF, and its propeptide concentrations have been evaluated in 102 children with insulin-dependent diabetes mellitus to determine whether an increase of vWF and its propeptide levels precedes and may predict the development of persistent microalbuminuria. The patients have been divided into two groups according to the presence or absence of microalbuminuria at the end of follow-up. They have been followed up for at least 8 y. Control group consisted of 80 age- and sex-matched healthy volunteers. At the beginning of the study there was no significant difference in fibrinogen, vWF, and its propeptide levels between patients and control subjects. During the follow-up, a significant increase of plasma vWF and its propeptide has been observed in the group of patients who later developed microalbuminuria but not in those who remained normoalbuminuric. This increase started 3 y and become statistically significant (p < 0.01) 2 y before the onset of microalbuminuria, persisting until the end of the study. During the entire follow-up plasma values of fibrinogen persisted in the normal range. In conclusion, an increase in plasma concentration of vWF and its propeptide precedes microalbuminuria and, therefore, can be useful to identify children with insulin-dependent diabetes mellitus at risk to develop incipient nephropathy later in life.

Albuminuria↗
PubMed2003

Preventing microvascular diabetic complications in children and adolescents: looking beyond glycaemic control.

Type 1 diabetes mellitus is associated with the development of micro- and macrovascular disease, and diabetic angiopathy in children and adolescents. It is represented mainly by microangiopathy, characterised by structural changes in the eye, renal glomeruli and peripheral nerves. The pathogenesis of the vascular complications of diabetes is controversial, but without any doubt, endothelial dysfunction play an important role in the pathogenesis of glomerulosclerosis and atherosclerosis. Preventive strategies for these three major complications are discussed in this review. Appropriate surveillance for the earliest evidence of microvascular disease should begin at the onset of puberty, and after 3 - 5 years of diabetes. Therapeutic interventions, particularly excellent metabolic control, may be almost effective in preventing complication onset, or significantly retarding the rate of progression.

Adolescent↗