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Biomedical subjects

G Morgese

Publications and source records attributed to G Morgese.

At least 37 records · Page 2Linked to original sources
PubMed2003

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↗
PubMed2003

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↗
PubMed2002

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

Axenfeld-Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, and is associated with iris hypoplasia, corectopia, and hole formation. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical skin, have also been reported with ARA, in the context of the so-called Axenfeld-Rieger syndrome (ARS). Genetic heterogeneity exists, as ARA maps to chromosome 6p25, whereas ARS can be linked to both chromosome 4q25 and chromosome 13q14. Here we describe a new family in which ARA is associated with cardiac malformations and sensorineural hearing loss. No abnormalities of the teeth, facial bone, or periumbilical skin, which are considered of paramount importance in the diagnosis of ARS, were observed in our patients. Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome.

Adolescent↗
PubMed2002

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↗
PubMed2002

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↗
PubMed2002

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↗
PubMed2002

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↗
PubMed2001

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

Abnormalities, Multiple↗
PubMed2001

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study.

Vacuolating megalencephalic leukoencephalopathy (VML) with subcortical cysts is a neurodegenerative disorder clinically characterized by megalencephaly with onset in the first year of life, progressive ataxia, spasticity and relatively spared cognitive function. Conventional MRI findings consist of diffusely abnormal cerebral white matter with subcortical cysts. Recent single-voxel proton MR spectroscopy studies have shown mild metabolic abnormalities in the white matter. We report here a combined proton MR imaging and MR spectroscopic imaging (1H-MRSI) study on 2 new, unrelated patients with this rare disorder. 1H-MRSI examinations, which can provide simultaneously metabolic information from many different brain regions, showed inhomogeneous decreases in all normally detected metabolites with significant widespread decreases in the ratio of N-acetylaspartate to creatine+phosphocreatine and concomitant small increases in lactate in the white matter of both hemispheres. Metabolic abnormalities were milder in the frontal white matter and more severe in the posterior white matter. The 1H-MRSI pattern of the gray matter was normal in both patients. In one patient, a subsequent 1H-MRSI examination (performed 3 years after the first) confirmed the presence of widespread decreases in the ratio of N-acetylaspartate to creatine+phosphocreatine in the white matter. We conclude that severe metabolic abnormalities can be found in the white matter of VML patients. This suggests that, despite the apparently mild clinical course, a severe neurodegenerative process may occur in the white matter of these patients.

Adolescent↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria.

Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital microcephaly, congenital cerebral calcification, spasticity and seizures are the main clinical features, and have been present in almost all patients reported so far. On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients. Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.

Brain↗
PubMed2001

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↗
PubMed2001

Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?

OBJECTIVE: The Chiari I malformation is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Although Chiari I malformation is considered to derive from a mesodermal disorder resulting in underdevelopment of the posterior fossa relative to its content, evidence for a possible heterogeneous etiology also has been reported. The aim of the present study is to elucidate the relationship between Chiari I malformation and mental retardation, speech delay, and epilepsy to consider a possible specific pathogenetic background. METHODS: Thirty-five patients with Chiari I malformations were identified by use of magnetic resonance imaging during a period between 1993 and 1999. The study consisted of nine patients (four boys and five girls) who were affected by mental retardation, speech delay, and epilepsy. All patients underwent electroencephalography and brain and cervical spine magnetic resonance imaging. RESULTS: All patients were mentally retarded with a mean intelligence quotient of 50. Seven patients had a positive history for speech delay, and five were epileptic. Electroencephalograms demonstrated abnormalities in seven patients. The mean tonsillar displacement was 10.1 mm. A thin corpus callosum and a wide cavum septum pellucidum were present in three patients. Neither hydromyelia nor scoliosis was observed. No correlation between the degree of the ectopia and clinical manifestation was noted. CONCLUSION: The association of Chiari I malformation with epilepsy, speech delay, and mental retardation may not be a mere incidental finding but may be a marker for a different pathogenetic background.

Adolescent↗
PubMed2001

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↗
PubMed2001

Multiple neuroendocrine disorder in Salla disease.

Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination and corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined growth hormone and gonadotropin deficiencies, hypothalamic pituitary in origin, have been demonstrated by neuroendocrine studies. We believe that the multiple neuroendocrine disorder may be the consequence of the abnormalities of common neuronal pathways regulating growth hormone and gonadotropin synthesis or secretion related to the brain storage of free sialic acid and/or to the neurodegenerative process occurring in Salla disease. Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful.

Adolescent↗
PubMed2001

Pubertal disorders in inv dup(15) syndrome.

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormalities, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup(15) syndrome which suggest that endocrine investigation in these patients is both warranted and useful. Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory.

Adolescent↗