No abstract

No abstract

In children, narcolepsy may be the symptom of a brain lesion or genetic disease. The authors report two cases with severe narcolepsy-cataplexy emerging in childhood in close temporal association with obesity and precocious puberty.

Impairment because of narcolepsy strongly limits job performance, but there are no standard criteria to assess disability in people with narcolepsy and a scale of disease severity is still lacking. We explored: (1) the interobserver reliability among Italian Medical Commissions making disability and handicap benefit decisions for people with narcolepsy, searching for correlations between the recognized disability degree and patients' features; (2) the willingness to report patients to the driving licence authority and (3) possible sources of variance in judgement. Fifteen narcoleptic patients were examined by four Medical Commissions in simulated sessions. Raw agreement and interobserver reliability among Commissions were calculated for disability and handicap benefit decisions and for driving licence decisions. Levels of judgement differed on percentage of disability (P < 0.001), severity of handicap (P = 0.0007) and the need to inform the driving licence authority (P = 0.032). Interobserver reliability ranged from Kappa = -0.10 to 0.35 for disability benefit decision and from Kappa = -0.26 to 0.36 for handicap benefit decision. The raw agreement on driving licence decision ranged from 73% to 100% (Kappa not calculable). Spearman's correlation between percentages of disability and patients' features showed correlations with age, daytime naps, sleepiness, cataplexy and quality of life. This first interobserver reliability study on social benefit decisions for narcolepsy shows the difficulty of reaching an agreement in this field, mainly because of variance in interpretation of the assessment criteria. The minimum set of indicators of disease severity correlating with patients' self assessments encourages a disability classification of narcolepsy.

No abstract

Microsatellites or short tandem repeats (STRs) markers are important tools for mapping disease-causing genes by linkage, for performing investigations in forensic medicine, for population genetic studies and for studying genetic modifications in tumors. In forensic applications neoplastic tissues can be used as a source of genetic information for personal identification or paternity testing when no other specimen is available. Cancer tissues can show microsatellite instability (MSI) and loss of heterozygosity (LOH) also for the STRs used in the forensic field. In this study, we screened 56 sporadic gastrointestinal carcinomas in order to provide further data for the evaluation of the incidence of allelic alterations for 15 STR loci and the suitability of using cancerous tissues in forensic applications. Sixty-six percent of the cancerous tissues were found to possess allelic alterations of the microsatellites analyzed with a high incidence of MSI-L (microsatellite instability low) when compared to the corresponding normal tissue. The most frequently altered loci were D18S51, VWA, and FGA. From a forensic perspective, great care must be taken in evaluating the DNA typing results obtained from cancerous tissue samples.

The behavior of the secretion of ACTH, GH, and plasma cortisol during the insulin-induced hypoglycemia test on normal and obese children was studied. The secretion of the above-mentioned hormones was determined by calculating the integrals of the curves. The mean values of the integrals of the plasma cortisol and ACTH curves do not show any significant differences between the two groups of children. The mean values of the ratios between the integrals of the plasma cortisol and ACTH curves show a significant difference between the two groups (P smaller than 0.01). Since the mean values of the integrals of the plasma cortisol curves are practically the same in both groups, the difference in the above-mentioned ratios refers to the lower values of the integrals of the ACTH curves found in the obese children. This enables us to make the hypothesis that in the obese child the function of the pituitary-adrenal axis, at least during the insulin test, does not differ from the norm thanks to the adaptation of the ACTH secretion to the greater sensitivity of the adrenal glands to this hormone. In both the groups examined there was no correlation between the secretion of ACTH and plasma cortisol, between ACTH and GH, and between plasma cortisol and GH.

In 22 normal boys, 33 unilateral and 14 bilateral cryptorchids, a gonadal function test (2000 IU of HCG im each a day for three days and assays of plasma testosterone and plasma oestradiol-17\g=b\ before and after the HCG administration) as well as an LH-RH test were carried out. In 60% of the cases, both normal and cryptorchid boys, plasma oestradiol-17\g=b\(both in basal conditions and after stimulus) were found to be less than the sensitivity (5 pg/ml) of the method. While the plasma testosterone was similar under basal conditions in the three groups of children, after HCG it was significantly lower than the mean value of the control group only in the bilateral cryptorchids. The testosterone levels, both under basal conditions and after stimulus, are correlated to bone age only in the normal boys and in the unilateral cryptorchids. There were no significant differences among the various groups for either LH and FSH both under basal conditions and after LH-RH. The LH curve area during the LH-RH test is in correlation with bone age only in the normal children.The scanty data regarding the endocrine function (Rivarola et al. 1970; Zach¬ mann 1972;Sizonenko et al. 1973;Canlorbe 1974;Cacciari et al. 1974a) as well as the histological pattern of the gonads (Mancini et al. 1965;Bramble et al. 1974;Canlorbe 1974), and the pituitary reserve of gonadotrophins (Job et al.