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Biomedical subjects

A Verrotti

Publications and source records attributed to A Verrotti.

At least 37 records · Page 2Linked to original sources

Epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report.

UNLABELLED: Lafora-body disease (LBD) is a rare neurometabolic disorder of autosomal recessive inheritance associated with progressive myoclonic epilepsy. We report here the first description of ictal and interictal recording by electroencephalography (EEG) and magnetoencephalography (MEG) of a 15-y-old girl suffering from LBD. CONCLUSIONS: Complementary use of MEG and EEG might be of future help to the clinician in better defining the pathophysiology of complex seizures, and also in patients with progressive neurological disorders, despite the poor prognosis of syndromes such as LBD.

Adolescent↗

Kidney involvement and disease in patients with diabetes.

Diabetic nephropathy is the leading cause of end-stage renal disease in western or westernised countries and the largest contributor to the total cost of diabetes care around the world. In addition to the development of diabetic nephropathy and end-stage renal failure, diabetic patients with evidence of albuminuria have a much higher risk of developing myocardial infarctions, cerebrovascular accidents, severe progressive retinopathy, and peripheral and autonomic neuropathy. A cumulative incidence of diabetic nephropathy has been documented after duration of diabetes of at least 25 years in both type 1 and type 2 diabetic patients, although more recent studies have demonstrated a substantial reduction of its incidence. Before the onset of overt proteinuria, there are several renal functional changes, including renal hyperfiltration, hyperperfusion, and increasing capillary permeability to macromolecules. Basement-membrane thickening and mesangial expansion have long been recognized as pathological hallmark of diabetic nephropathy. It has been postulated that diabetic nephropathy occurs as a result of the interplay of metabolic and haemodynamic factors in the renal microcirculation. Hyperglycaemia plays a pivotal role in the pathogenesis of diabetic renal disease, but genetic factors are also of crucial importance. The accumulation of advanced glycosilation end products (AGEPs), the activation of isoforms of protein kinase C (PKC) and the acceleration of the aldose reductase pathway may explain how hyperglycaemia damages vessels. Growth factors (i.e. TGF-b, IGF-1, VEGF) may also play an important role in the pathogenesis. There is a familial clustering of diabetic kidney disease: a number of gene loci have been investigated to try to explain the genetic susceptibility to this complication. The two main treatment strategies for prevention of diabetic nephropathy are improved glycaemic control and blood pressure lowering, particularly using drugs such angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists. Many potential treatment modalities in preventing and treating diabetic nephropathy are presently being evaluated; some of them will possibly be available in the near future in order to try to modify the natural course of kidney involvement and disease in patients with diabetes.

Diabetic Nephropathies↗

Serum leptin levels in girls with precocious puberty.

Few data are available regarding leptin levels in children with different pubertal stages or with precocious puberty (PP). The aim of this study was to assess the changes in serum leptin levels in patients with PP. We studied 20 girls with PP, with Tanner stage II-III; the age at the beginning of pubertal signs ranged from 4.2 to 7.1 yr; all the girls had an advantaged bone age. Controls were subdivided in two groups: group 1: 20 pre-pubertal girls with the same chronological age of the patients, without any signs of pubertal development (Tanner stage I); group 2: 20 additional girls with the same bone age, pubertal stage and body mass index (BMI) of the girls with PP. Serum leptin levels in females with PP are similar to those found in subjects with normal puberty (9.0 +/- 0.8 vs 9.1 +/- 0.9 ng/ml; ns) and different from subjects with the same chronological age without activation of puberty (5.6 +/- 0.9 ng/ml, p < 0.001). In all groups leptin levels correlated significantly with BMI (girls with PP: r = 0.5 1, p < 0.02; control group 1 girls: r = 0.71; p < 0.0001; control group 2 girls: r = 0.49; p < 0.02), there was no significant relationship between leptin and activation of hypothalamic-pituitary-gonadal axis. Our results indicate that the serum leptin levels in the girls with PP are not significantly different from levels in healthy girls at a similar stage of pubertal development, suggesting that the relationship between serum leptin levels and BMI is also present in this pathological situation.

Age Determination by Skeleton↗

Epilepsy and adolescents.

Anticonvulsant (AEDs) therapy in adolescence is very difficult because there is no-compliance in this special time of life. Many studies show that the factors that assured good compliance were good motivation, a good therapeutic result, the support of parents, medical and assistance personnel and the positive attitude to the disease and its treatment. Moreover, in recent years, many studies have shown the changes in endocrinology function and weight changes in adolescents after AEDs therapy and after long term therapy with valproate (VPA), carbamazepine (CBZ), gabapentin, felbamate and, topiramate. Abnormalities include weight increase, weight loss, polycystic ovaries and bone disease (osteopenia/osteoporosis, osteomalacia, etc). Thyroid hormone concentrations are involved too. Some study report that the children treated with CBZ may have subclinical signs of hypothyroidism, and these changes are more evident if CBZ is given in association with another drug for example with VPA.

Adolescent↗

Serum copper, zinc, selenium, glutathione peroxidase and superoxide dismutase levels in epileptic children before and after 1 year of sodium valproate and carbamazepine therapy.

To assess whether epileptic children have abnormal values of serum copper (Cu), zinc (Zn), selenium (Se), glutathione peroxidase (GSH-PX) and superoxide dismutase (CuZn-SOD), and to evaluate the effect of long-term therapy with sodium valproate (VPA) and carbamazepine (CBZ) on these parameters, we studied 36 epileptic patients before the beginning of therapy and after 1 year of therapy with VPA or CBZ. Before the beginning of therapy, there were no differences in levels of all parameters studied between controls and epileptics. After 1 year of therapy, patients treated with VPA and CBZ continued to show normal values. In conclusion our study demonstrates that epilepsy per se and treatment with VPA and CBZ do not affect levels of Cu, Zn, Se, GSH-PX and CuZn-SOD concentrations.

Adolescent↗

Photoparoxysmal responses in non-epileptic children in long-term follow-up.

OBJECTIVES: To evaluate the photoparoxysmal responses (PPR) in non-epileptic children and adolescents in long-term follow-up. MATERIALS AND METHODS: We studied 14 non-epileptic children who showed PPR without any other electroencephalographic (EEG) abnormalities. RESULTS: One subjects was lost after 1 year of follow-up. At the final follow-up, four of the 13 patients (approximately 30%) did not show any PPR or other epileptic discharges, while in other children PPR continued to be present. The age of the disappearance of PPR in these four patients ranged from 1.1 to 5.9 years from the first evaluation. No patients suffered from epileptic seizures during the whole period of follow-up. CONCLUSION: Our study confirms that PPR can be present in the EEG of non-epileptic children and adolescents and demonstrates that this EEG change is not related to the presence of seizures and must not be considered a marker for the developing of epilepsy.

Adolescent↗

Serum angiogenin concentrations in young patients with diabetes mellitus.

BACKGROUND: Angiogenin serum levels were measured in a large group of type 1 diabetic young patients, looking at whether increased Angiogenin concentrations are associated with long-term glycemic control and microvascular complications. MATERIALS AND METHODS: Four groups of patients were compared to 223 age- and sex- matched healthy controls: 196 type 1 diabetic patients (age range 3-24 years, onset of diabetes before the age of 12 years; duration of disease longer than 2 years), without microvascular complications were divided into three groups on the basis of age (group 1, n = 37, age < 6 years; group 2, n = 71, age 6-12 years; group 3, n = 88, age > 12 years); 53 adolescents and young adults (age 16.1-29.7 years) with diabetic microvascular complications (background, preproliferative or proliferative retinopathy, albumin excretion rate 20-200 microg min-1) (group 4). RESULTS: Angiogenin serum levels were significantly increased in diabetic pre-school and pre-pubertal children, and particularly elevated in pubertal subjects compared with age- and sex-matched controls. Adolescents and young adults with microvascular complications had very high angiogenin concentrations. One-year mean HbA1c values were correlated with angiogenin levels (r = 0.389; p < 0.01). In poorly controlled diabetics (HbA1c > 10%), long-term (2 years) improvement of glycemic control determined a significant reduction of angiogenin concentrations in both pre-school and pre-pubertal children as well as in pubertal youngsters. CONCLUSIONS: Angiogenin serum concentrations are increased in diabetic children even before puberty. Severity of microvascular complications is associated with markedly increased angiogenin serum levels. Long-term tight glycemic control determines a consistent reduction of angiogenin concentrations.

Adolescent↗

Screening for vascular complications in children and adolescents with type 1 diabetes mellitus.

Type 1 diabetes mellitus poses a significant health burden, particularly as a result of its microvascular complications. Clinically evident diabetes-related microvascular complications are extremely rare in childhood and adolescence. However, early functional and structural abnormalities may be present a few years after the onset of the disease. Therefore, regular screening for diabetic microvascular disease, particularly retinopathy and nephropathy, are of foremost importance in paediatric diabetes care. Early detection of diabetic microangiopathy and timely treatment of early signs of these complications have a pivotal role in prevention of blindness and end-stage renal failure in children and adolescents with diabetes.

Diabetes Mellitus, Type 1↗

New antiepileptic drugs in childhood.

In recent years, many new antiepileptic drugs have been available for the treatment of epilepsy in pediatric age. In this review, we describe these new antiepileptic drugs (vigabatrin, lamotrigine, felbamate, gabapentin, tiagabine, topiramate) which can be used together with "old" antiepileptic drugs (e.g. phenobarbital, valproate, etc.). We report their mechanisms of action, effectiveness, dosage and side effects; moreover, some practical advice for their use in pediatric patients is given.

Anticonvulsants↗

Sensitization to environmental antigens in asthmatic children from a central Italian area.

This study was designed to evaluate the frequency of respiratory allergens in different age groups of asthmatic atopic children in the Chieti-Pescara area. We examined a pediatric population (507 children) aged between 1 to 17 years (mean 6.62 +/- 2.9). All the children were submitted to a panel of skin prick tests (SPT) for 12 common aeroallergens: Grass Pollens (G.), Parietaria (P.), Olive (O.), Artemisia (A.), Ragweed (R.), Dermatophagoides Pteronyssinus and Dermatophagoides Farinae (D.P. & D.F.), Cat and Dog dander (C.D.), Feathers (F.), Alternaria (Al.), Aspergillus (As.). All the subjects gave positive result to one or more allergens. The population was subdivided in to 4 groups according to their age (Group A: 1-3 years; Group B: 4-6 years; Group C: 7-9 years; Group D: 10-17 years). In each age group, we determined the number of subjects with 1, 2, 3, 4 or 5 and more than 5 positive SPT and the prevalence of positive SPT for different allergens. We found that 74% of 507 patients showed positive reaction to Dermatophagoides Pt, 71% to Dermatophagoides Fa, 45% to Grass, 23% to Parietaria, 21% to Olive, 17% to Artemisia, 17% to Cat's or Dog's danders, 13% to Alternaria, 5.9% to Ragweed, 5.9% to Feathers, and 4% to Aspergillus. In addition we detected that 12% of children examined were monosensitized; 56% were sensitized to 2 or 3 allergens; 22% were sensitized to 4 or 5 allergens, and then 8% were polysensitized to > 5 allergens. The allergy to grass pollens and to house dust mites was the most frequent in monosensitized. In the older patients, we found an increase in number of positives SPT to several allergens, and an increase in the frequency of Gr., P. and O. allergy, while the house dust mites sensitization remained constant in all groups and represented the dominant cause of asthmatic symptoms in this population. Our data confirm the importance of age in determining a respiratory polysensitization. In conclusion, our data suggest that house dust mites (D.P. and D.F.) and grass pollens are the most common allergens in asthmatic children of the Chieti-Pescara area.

Adolescent↗

Increased visceral adipose tissue is associated with increased circulating insulin and decreased sex hormone binding globulin levels in massively obese adolescent girls.

The current study was designed to examine the relationship between body fat distribution, as evaluated by anthropometry and magnetic resonance imaging (MRI), and circulating insulin, sex hormone and SHBG levels in obese adolescent girls. Twenty-nine obese adolescent girls, aged 12.6-16.9 years with a mean BMI of 30.51+/-1.86 participated in this study. All girls had breast stage B4-5 and pubic hair stage P4-5. Percent obesity and BMI as indices of being overweight were calculated; the waist-to-hip ratio (WHR) and the waist-to-thigh ratio (WTR) were calculated to obtain two anthropometric indices for the pattern of body fat distribution. The areas of visceral (VAT) and subcutaneous adipose tissue (SAT) were evaluated by MRI at the L4-L5 level. Serum concentrations of total T, DHEAS, 17beta-estradiol, progesterone and SHBG were measured. Plasma glucose and insulin concentrations were evaluated during an oral glucose tolerance test. WHR was the only anthropometric parameter that was significantly associated with the area of VAT. Insulin level showed correlation with both WHR and the area of VAT; no correlation was found between insulin levels and WTR. Both WHR and VAT were negatively correlated with serum DHEAS level and positively correlated with T level. There were strong negative correlations between serum SHBG level and the area of VAT and WHR. Inverse correlation was found between serum SHBG level and insulin. Serum 17beta-estradiol and progesterone levels showed no significant correlation with all the patterns of body fat distribution. SAT was not significantly correlated with both anthropometric parameters and any of the sex hormones evaluated. We can draw two main conclusions. Firstly, in massively obese adolescent girls, the WHR seems to be a good indicator for the accumulation of VAT, and abdominal obesity, rather than adiposity per se, appears to be related to biochemical complications. Secondly, increased upper body adiposity and, in particular, the intra-abdominal fat area are associated with increased insulin levels in massively obese adolescent girls. The associated reductions in SHBG and DHEAS levels represent an early general risk factor for the development of metabolic and cardiovascular diseases in this population, as previously described for obese adult women.

Adipose Tissue↗

Plasma prorenin levels may predict persistent microalbuminuria in children with diabetes.

Diabetic microangiopathy is characterized by increased prorenin concentrations. In the present study, we evaluated plasma prorenin concentrations in a large group of adolescents with onset of diabetes during childhood to determine whether increasing prorenin levels may predict the development of persistent microalbuminuria. Ninety-seven young diabetic patients were studied; they were divided according to the presence of persistent microalbuminuria, at the end of follow-up, into group A and group B (patients who did not develop and who developed persistent microalbuminuria, respectively). One hundred and two healthy subjects, matched for age and sex, were also selected. Patients were followed up for at least 10 years. At the beginning of the study there were no significant differences in prorenin levels between either the two diabetic groups or the healthy controls. During follow-up, an increase in plasma prorenin started at 4 years and became statistically significant (P<0.01) 3 years before the onset of persistent microalbuminuria. No correlation was found between plasma prorenin levels and HbAlc percentages. In conclusion, an increased concentration of prorenin in plasma precedes the elevation of albumin excretion rate (AER) and, therefore, can be useful for identifying patients with onset of diabetes during childhood at risk of developing incipient nephropathy later in life.

Adolescent↗

Static perimetry and diabetic retinopathy: a long-term follow-up.

In order to evaluate if central static perimetry is useful to identify patients at risk of developing diabetic retinopathy, 60 (27 male, 33 female) adolescents and young adults (mean age, 15.9 years) with insulin-dependent diabetes mellitus were studied prospectively. No patient showed fluorescein angiographic signs of retinopathy initially. The patients were evaluated at the beginning of the study and after 8 years. At the beginning of the study, mean defect in the population was -2.34 dB as determined by perimetry; no patient showed significant impairment of foveal threshold (mean, 33.17 dB). After 8 years of follow-up, 7 patients had developed fluorangiographic signs of retinopathy. Life-table analysis showed that the overall probability of retinopathy development was significantly higher in subgroups of patients with mean sensitivity in areas 2 and 3 below the cutoff. These results suggest that central static perimetry is a useful tool in predicting the development of retinopathy in children with insulin-dependent diabetes mellitus who do not have fluorescein angiographic signs of retinopathy. This tool can help the physician to identify those patients at risk of developing fluorangiographic signs of retinopathy.

Adolescent↗

Effect of anticonvulsant drugs on interleukins-1, -2 and -6 and monocyte chemoattractant protein-1.

In order to evaluate whether treatment with valproic acid or carbamazepine can modify interleukins and monocyte chemoattractant protein-1, we studied 40 epileptic children and adolescents. We evaluated the patients before and after 1 year of therapy. At the end of follow-up, the patients showed a significant increase of the production of interleukin-1alpha, interleukin-1beta, interleukin-6, and monocyte chemoattractant protein-1; interleukin-2 production was significantly higher only in patients receiving carbamazepine. In conclusion, antiepileptic drugs can influence the immune system by modifying interleukin and chemokine concentrations; these changes seem to be independent of the serum concentrations of these drugs.

Adolescent↗

Thyroid hormones in epileptic children receiving carbamazepine and valproic acid.

Carbamazepine and valproic acid are effective antiepileptic drugs for treating many types of epilepsy. Although they are well tolerated, many effects on endocrine function have been reported. Changes in serum thyroid hormones levels in 37 children with epilepsy during carbamazepine and valproic acid therapy were analyzed, and the thyroid hormone concentration after thyrotropin-releasing hormone test was evaluated. Serum thyroxine and free thyroxine levels were significantly lower in patients treated with carbamazepine and carbamazepine plus valproic acid than in the control subjects; serum thyroxine and free thyroxine concentrations were unaffected by valproic acid monotherapy. Serum triiodothyronine and free triiodothyronine concentrations were similar in the three groups of patients studied. Thyroid-stimulating hormone serum levels were normal in all patients, and the thyrotropin responses to the thyrotropin-releasing hormone were similar to control group. Our data suggest that children treated with carbamazepine may have subclinical signs of hypothyroidism, and these changes are more evident if carbamazepine is given in association with valproic acid, while no alteration in thyroid hormones can be found with valproic acid monotherapy. Thyroid-stimulating hormone and thyrotropin-releasing hormone levels do not seem to be affected by these drugs, suggesting that hypothalamic function is not affected in these children.

Adolescent↗

Final height of thalassemic patients who underwent bone marrow transplantation during childhood.

We evaluated the final height achieved by 47 patients who had bone marrow transplantation (BMT) for thalassemia major. Subjects were separated into two groups: patients who received BMT before 7 years of age and patients who received BMT after 7 years of age. Parental height and genetic target height (TH) were calculated. Our data indicated a strict correlation between age at time of transplant and final adult height. The patients whose age at transplant was <7 years had a less impaired growth rate than did patients who were >7 years. Moreover, greatest loss in height was observed in subjects who had higher serum levels of transaminase and ferritin and these biochemical parameters were strictly correlated to the final adult height. Mean final adult height, however, did not differ from the genetic target height in subjects who received BMT before 7 years of age and the final height SDS corrected for TH surpasses even the TH. In contrast, the subjects who received BMT after 7 years of age, failed to achieve their full genetic potential. In conclusion, short stature is present in a significant percentage of transplanted thalassemic children. The data in this study indicate a close effect of the age at time of transplant on subsequent growth rate, but the growth impairment in these subjects remain multifactorial.

Adult↗

Paroxysmal tonic upgaze of childhood: effect of age-of-onset on prognosis.

UNLABELLED: Paroxysmal tonic upgaze (PTU) is a syndrome of childhood manifesting as sudden ocular movements with sustained upward deviation of the eyes. We describe the outcome of 6 patients, after a follow-up of 10 years, with onset of the disease in childhood. The aims of this study were to clarify some clinical features of this syndrome and to evaluate the long-term prognosis of these children. In all the patients, tonic upgaze episodes disappeared with time to remission, varying from 1 to 4 y, without any therapy and without any change in psychomotor development, EEG and neuroimaging. Only one child had pathologic interictal EEG with temporo-occipital spikes, which persisted after the offset of the disease. CONCLUSION: From a long-term follow-up, we can confirm the good prognosis of PTU and suggest it is possible to define a distinct syndrome of childhood without any neurological abnormalities and with spontaneous resolution.

Age of Onset↗

New trends in the etiopathogenesis of diabetic peripheral neuropathy.

Neuropathy is well recognized as a major complication of insulin-dependent diabetes mellitus in adults, resulting in significant morbidity and possibly an increased mortality. Both the peripheral and autonomic nervous systems can be involved, and adolescents with diabetes can show early evidence of neuropathy. The pathogenesis of diabetic neuropathy remains unclear but is thought to involve various mechanisms. This complication can be traced to the metabolic effects of hyperglycemia and/or other effects of insulin deficiency on the various constituents of the peripheral nerve. The polyol pathway and/or nonenzymatic glycation affecting one or more cell types in the multicellular constituents of the peripheral nerve appear likely to have an inciting role. The role of other factors, such as possible direct neurotrophic effects of insulin and insulin-related growth factors, seems to be relevant.

Adolescent↗