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G Paolone

Publications and source records attributed to G Paolone.

11 recordsLinked to original sources

Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier.

UNLABELLED: A 15-year-old boy with epilepsy and cerebral calcifications, treated with valproic acid, ethyl phenylbarbiturate and ethosuximide, was referred for drug induced systemic lupus erythematosus. Anti-gliadin (AGA) and anti-endomysium (EMA) antibody tests were both positive (EMA titre 1:50). Endoscopic duodenal biopsy showed intense chronic inflammation without villous atrophy or crypt hyperplasia. The child was discharged with a gluten-containing diet. The follow-up showed an increase in EMA titre (1:200) and the persistence of AGA. After 15 months, a second endoscopic intestinal biopsy showed flat mucosa and villous atrophy. Three serum folic acid determinations showed 1.8, 2.4, 2.0 ng/ml (reference range 2.5-16.9 ng/ml) prior to the two intestinal biopsies, but returned to normal levels (11.8 ng/ml) after a gluten-free diet and oral supplementation together. Two years later, the frequency of epileptic seizures was unchanged despite ongoing anti-epileptic treatment and a gluten-free diet. As cerebral calcification and epilepsy are reminiscent of the findings in congenital folate malabsorption, oral loading tests with 5 mg folic acid were carried out and showed impaired intestinal absorption and a defect in the transport across the blood-brain barrier. Low CSF folate levels (13.9 and 12.6 ng/ml, reference range 15-40 ng/ml) and an alteration in the CSF/serum folate ratio (1.43 and 1.16, normal ratio 3:1) were also found as well as increased levels of cystathionine both in CSF (40 micromol/l, reference range 18-28 micromol/l) and in serum (32 micromol/l, reference value <0.10 micromol/l). CONCLUSION: Impairment of intestinal folic acid absorption with a defect in folic acid transport across the blood-brain barrier has been demonstrated in a case of epilepsy and cerebral calcifications associated with coeliac disease.

Adolescent↗

[Pregnancy in adolescence. Consequences and considerations].

Many authors have pointed out that sexual activity is starting at an increasingly early age in young adolescents. In 1990 pregnancies in under 15-year-olds in the United States accounted for 3% of the total, a figure that has increased by 13% over the past decade. Moreover, pregnancy in adolescence may result in a number of complications, including pre-term birth, PIH, sexually transmitted diseases. The aim of this study was to evaluate the incidence of adolescent pregnancy in our user basin and to analyse the clinical evolution of these cases. The sample included 61 girls aged between 15.4 and 17.9 years old, mean age 16.7. Of these, 65.6% were students. The majority opted for voluntary abortion (85.2%). Those who chose to continue the pregnancy came from small towns with less than 1000 inhabitants (77.7%). They subsequently married their partners and continued to live with their parents. From an obstetric point of view, only one case of pre-term birth was recorded at week 26, and two cases of IUGR. The fact that the percentage of pregnancies in adolescence has remained unchanged over the years in spite of the numerous health and contraception campaigns represents a strong stimulus to investigate the countless facets of this problem.

Adolescent↗

Correlation between Epstein Barr virus antibodies, serum IgE and atopic disease.

It is currently accepted that viral infections may influence the development of atopy. In the present study we evaluated serum IgE levels as well as the prevalence of symptoms indicative of atopic disease and EBV antibodies in 353 children aged from 1 month to 19 years. Antibodies against EBV were detected by immunofluorescence. IgE levels in serum were measured by enzyme immunoassay. Dividing the study population according to EBV seropositivity and age, we noted that the prevalence of high IgE levels (> 2 s.d.) was, in total, more frequent in the EBV negative (32.9%) than in the positive subjects (27.6%). Interestingly, this higher prevalence was found only in the groups aged under six, especially in the 7 to 29 month group, where it was statistically significant (p=0.037), whereas in the 6-19 year group the situation was reversed. Furthermore, selecting only the atopic children younger than 3 years of age with high IgE levels and clinical symptoms of atopy (wheezing and/or dermatitis) it was possible to demonstrate lower EBV seropositivity compared with the normal IgE controls for each group, even though these differences were not statistically significant. In conclusion, the results of our study suggest that, in our selected population, EBV infection in the first years of life is associated with a lower prevalence of high IgE levels.

Adolescent↗

Ambulatory monitoring in normal children.

An Ambulatory ECG monitoring (AM) was carried out over a 24 hr. period on 90 healthy children divided into 3 age groups (lst week of life, 1 year of age and 5 years of age). There was a high number (about 50%) of unusable registrations because of detached electrodes, broken leads, and artifacts. The AM on children is characterised by: a) high values of the maximum frequencies (mean maximum absolute frequency 178 at birth, 164 at one year, 154 at 5 years); b) a great difference between the maximums and minimums; c) hourly variations related, above all, to feedings in the new-born babies and of a circadian type in the 5 years old children; d) almost constant marked sinus arrhythmias (80%); extremely rare extrasystolia (7.5 atrial, 2.5 ventricular) and always isolated; e) presence of upward (27%) and downward deflection (10%) of the J point sometimes accompanied by modifications of the T wave (22%).

Adult↗

[Diagnosis of Prader-Willi syndrome. Considerations on a case of erroneous diagnosis].

Prader-Willi syndrome is a genetic disease, which is clinically characterized by neonatal hypotonia, feeding problems in the first year of life, excessive eating with severe obesity from the second year of life, developmental delay, hypogonadism, typical facial features, short stature, behaviour problems, mental retardation. It is caused by a genomic imprinting disorder, i.e., lacking expression of paternally derived genes located on the long arm of chromosome 15. We present a case of a child with a neonatal diagnosis of Prader-Willi syndrome, founded on some facial dysmorphic features and a partial deletion of 15q, which we belied thanks to an anamnestic and clinical revaluation, and a metilation test. We also present main topics about Prader-Willi syndrome diagnosis, including clinical and endocrinological features, scoring system, and genetics.

Child↗