The burden of narcolepsy with cataplexy: how disease history and clinical features influence socio-economic outcomes.

OBJECTIVE: To investigate in narcolepsy with cataplexy (NC) patients of working age (18-65 years) the influence of age at onset, age at diagnosis and clinical features on socio-occupational conditions, disease-related economic burden, and quality of life. METHODS: One hundred consecutive patients underwent a semistructured interview on socio-occupational aspects, NC-related direct and indirect costs, and NC history. Questionnaires were used to evaluate excessive daytime sleepiness, cataplexy, depressive symptoms, and quality of life. RESULTS: NC patients (51 males, mean age 37±11.5 years) had educational and occupational levels similar to those of the Italian population of the same age range, but married less often, especially if NC onset occurred at a young age. Total annual NC-related costs were €9814 ± 10,372 per patient. Multivariate analyses showed that patients with NC onset before the age of 30 years had a higher educational level, married less frequently, and were less frequently unemployed or inactive (retired, housewife). Patients diagnosed before the age of 30 years were less frequently unemployed or inactive, had fewer work changes, and had a better general health perception. Irresistible sleepiness was associated with work absences and higher indirect costs. Depressive symptoms were strongly associated with lower quality-of-life scores. CONCLUSIONS: NC age at onset and at diagnosis modulates the disease-related burden. A diagnosis at a young age could improve patients' occupational prognosis, and their general health perception.

Microwave processing and ethanol-based fixation in forensic pathology: an addendum of further scanning electron microscope observations.

Scanning electron microscope microscopy on samples of tissue fixed with alcohol-based fixative and processed using a microwave device confirmed the validity of the fixation procedure. The details are clearer with respect to those obtainable with formalin fixatives. It was interesting to work on sections prepared for normal histologic processing because the metallization indispensable for scanning electron microscope occurred without difficulty. All together, the procedure seems to be very flexible and adapted to the complexity of forensic investigation, above all, when the tissue is altered by autolytic phenomena.

Medico-legal assessment of disability in narcolepsy: an interobserver reliability study.

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.

Suboptimal awareness of radiologic dose among patients undergoing cardiac stress scintigraphy.

OBJECTIVE: Patients undergoing radiologic and nuclear medicine examination often receive little, if any, information related to the radiologic dose and consequent potential long-term cancer risk. This "economical with the truth" communication may violate basic patients' rights. We assessed the information perceived by patients on the radiation dose exposure during nuclear medicine examinations. METHODS: We recruited 109 consecutive patients (66 male; aged 66 +/- 10 years) who were referred to the Nuclear Medicine laboratory of Sant'Orsola-Malpighi Hospital (Bologna University, Bologna, Italy) for a cardiac rest-stress technetium-99m sestamibi scan. This scan gives an effective dose of approximately 10 mSv, corresponding to a dose equivalent of 500 chest x-rays (European Commission Medical Imaging Guidelines 2001) and an estimated extra lifetime attributable risk of 1 cancer in 1,000 exposed subjects (Biological Effects of Ionizing Radiation VII Committee 2005). RESULTS: Radiation dose exposure was correctly identified by 21% of patients, with the remaining 79% underestimating the exposure by at least 500 times, considered to be zero by 11%, one-half of a chest x-ray by 23%, 1 chest x-ray by 35%, and "don't know" by 10%. The long-term cancer risk was correctly estimated by 27% of patients, with the remaining substantially underestimating the risk, considered to be "zero" by 30%, 1 in 1 million by 19%, 1 in 100,000 by 9%, and "don't know" by 10%. CONCLUSION: Patients undergoing common cardiac stress scintigraphy examinations involving significant radiation exposure have little or no awareness about nuclear medicine dose (and corresponding risk). This ineffective communication poses significant ethical concerns and possible vulnerability to legal suits against practitioners and prescribers, especially in case of inappropriate examinations.

Male haplotypes and haplogroups differences between urban (Rimini) and rural area (Valmarecchia) in Romagna region (North Italy).

The distribution of Y chromosomal haplotypes and haplogroups in two different population samples from the Romagna region (North Italy) was performed. One population sample was collected in the urban area of Rimini, an ancient port in Roman age and the other one in the near and geographically more isolated rural area of Valmarecchia. Fast and slow evolving markers have been studied to infer population history and to analyse the microgeographic heterogeneity of Y chromosome in a Northern Italian region. Haplotype variability values compared to those observed in a Central Italy sample from the other side of Apennine mountains and in an Austrian population sample were very similar.

Cancerous tissues in forensic genetic analysis.

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.

Microwave processing and ethanol-based fixation in forensic pathology.

An ethanol-based fixative (FineFIX) has been used, together with rapid microwave-stimulated processing, in postmortem material, resulting in a rapid fixation and processing of the tissues with morphology, histochemical stains, and immunocytochemistry comparable to formalin-fixed material. Furthermore, this alternative fixation gives better DNA recovery in higher amounts if compared with DNA extracted from formalin-fixed tissue, particularly advantageous in forensic pathology.