[Proline hydroxylase (hPH) as marker of hepatic fibrosis in beta thalassemia].

Forty-four polytransfused thalassemic patients were considered to evaluate hPH enzyme, involved in collagen synthesis. The aim of this investigation was to verify the usefulness of such assay in the follow-up of liver damage in thalassaemic patients. The patients were separated into two groups: one group with normal transaminase activity and another one with pathological values from more than two years.

Neopterin as a marker of C hepatitis in thalassaemia major.

The authors studied serum neopterin in 106 patients with beta thalassaemia major. A good correlation was found between neopterin values and glutamic pyruvic transaminase (GPT) mean values of the last 6 months, whereas no correlation was found between neopterin values and some siderosis indexes (iron/body weight, total accumulated iron). A statistically significant correlation was found between neopterin values (greater than 10 nM/L vs.

Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics.

Polygraphic sleep recordings (EEG, EMG, and EOG) were performed in two groups of epileptic subjects, six with fragile-X syndrome and six with symptomatic epilepsy. Recordings were visually scored for sleep stages and number of spikes/min. Subjects with fragile-X syndrome showed a well defined pattern of production of interictal epileptiform activity with the lowest values during REM sleep; symptomatic epileptic subjects showed less defined and more variable spike/min diagrams.

Epilepsy and fragile X syndrome: a follow-up study.

This paper describes EEG and clinical findings resulting from a follow-up investigation in a group of 18 males with fragile X syndrome, in whom a characteristic paroxysmal EEG pattern was previously described. The following types of evolution were observed: (1) disappearance of the pattern (with a gradual lowering of the amplitude of spikes and in some cases with asynchrony between the two hemispheres); (2) disappearance of the quasi-rhythmic centrotemporal spikes and persistence of bisynchronous polyspike and wave complexes in the temporo-parieto-frontal regions; and (3) persistence of the previously observed pattern. These results confirm the already observed similarity between this condition and the benign childhood epilepsy with centrotemporal spikes, also from the maturational point of view; on the other hand, they also indicate some difference (i.

[Operator exposure levels in nuclear medicine studies].

In diagnostic examinations performed in nuclear medicine, radio-isotopes with a relatively short half-life are used, the quantity varying according to the type of examination. After administration of the labelled substance, the patient becomes a large source of ionizing radiations. During the course of a scintigraphic examination, the operator is obliged to go near the couch to assist the patient in the positions and will therefore inevitably be in this radiation field.

Hypertransaminasemia as the first symptom in infant celiac disease.

Two infants admitted for evaluation of hypertransaminasemia had high levels of anti-gliadin IgA and IgG antibodies and histological changes of the duodenal mucosa typical of celiac disease. Although the cause of the liver involvement could not be exactly identified, both the hypertransaminasemia and the histological changes of the mucosa disappeared after a short period of gluten-free diet. Even though two cases are not enough for definite conclusions, the authors suggest that an unexplained increase in transaminases would require an evaluation for celiac disease.

Immune response of subjects at high risk of hepatitis B to a new genetically engineered hepatitis B vaccine administered in low doses by the intradermal route.

Fifty-eight subjects at high risk for hepatitis B were vaccinated with hepatitis B vaccine prepared by a DNA recombinant technique (Engerix B- Smith-Kline Biologicals) by the intradermal route with low doses (5 microgr) at 0, 15, 30 and 45 days on the volar surface of the arms. A positive immune response (100%) was found in all children (5 affected by thalassemia, 5 affected by sickle cell anaemia, 9 affected by neurological handicaps) and in all healthy medical staff. None showed side-effects and the small pigmented macula following vaccination disappeared after a few months.

Intradermal hepatitis B vaccination in thalassaemia.

Fifty six children with thalassaemia, and 118 healthy subjects, who had all been immunised with an intramuscular injection of hepatitis B vaccine (HB-VAX) into the deltoid area three years previously, were given booster doses intradermally. All responders (good = hepatitis B surface (HBs) antibody titre greater than or equal to 10 U/l; poor = HBs antibody titre less than 10 U/l) showed pronounced increase in anti-HBs titre, in many cases above 1000 U/l. We also found positive HBs antibody response after further doses (two to four) at intervals of 15 days in non-responders (those patients who formerly had shown no HBs antibody titre after the conventional schedule of vaccination).

[Ogilvie's syndrome].

Ogilvie's Syndrome is defined as acute distension of the colon without any mechanical obstruction. We reported two new cases who underwent surgical treatment and the revision of the literature. Four hundred eight-six cases are described until now.

[Guillain-Barré syndrome in childhood: epidemiology and clinical aspects].

From 1980 to 1988, 25 cases of S.G.B.

Comparison between the results of an automatic and a visual scoring of sleep EEG recordings.

In this paper, results from the visual scoring of nocturnal polygraphic recordings, carried out by nine different groups of readers from different Italian sleep laboratories, are analyzed; inter-and intragroup variability is shown and statistically discussed. Data are then compared with the results of an automatic scoring of the same recordings, carried out by the Medilog Sleep Stager. The validity of this automatic method of scoring is discussed.

A simple electronic and computer system for automatic spindle detection.

The authors present a new system for the automatic detection of sleep spindles. The electronic and computer analysis are described and a comparison between automatic and visual analysis, performed by two independent readers, was carried out with the aim of evaluating the reliability of the system. Results are discussed and compared with those of different systems already described.

[Reye's syndrome: reports of 7 cases in the period 1982-1987].

Reye's syndrome is an acute non-inflammatory encephalopathy with fatty degeneration of inner organs. The disease seems to be the metabolic response to a generalized mitochondrial insult. From 1982 to 1987, we studied 7 patients, age range being 2 months to 12 years, affected by R.

Prevalence of a novel epileptogenic EEG pattern in the Martin-Bell syndrome.

In this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin-Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the sensitivity, allows us to propose this pattern as an important "marker", useful in the diagnosis of the Martin-Bell syndrome.

Ichthyosis and neutral lipid storage disease.

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

Fragile-X syndrome: a particular epileptogenic EEG pattern.

A clinical and EEG study of 12 fragile-X syndrome subjects (six with epilepsy) is presented. All subjects had clinical-family history examinations, EEG evaluations, and karyotyping. Spikes were present in the sleep EEG of one nonepileptic and four epileptic subjects: these spikes were similar in location, occurrence, voltage, frequency, and morphology (and similar to those of the Rolandic spikes).