Health-related quality of life in Parkinson's disease patients in northeastern Sicily, Italy An ecological perspective

Parkinson＇s disease has a negative impact on health-related quality of life in Parkinson＇s disease patients. Depression, cognitive impairment, coping strategies, dyskinesia, gait disorders and complications of dopaminergic drugs are the variables that most affect health-related quality of life. The ecological model of human development focuses attention on both individual and social environmental factors as targets for health interventions. From this perspective, the aim of this cross-sectional survey was to evaluate the influence of gender, family size and perceived autonomy on health-related quality of life in Parkinson＇s disease patients in nOrtheastern Sicily, Italy. Ninety Parkinson＇s disease patients, attending the Movement Disorders Clinic at IRCCS Centro Neurolesi ＂Bonino-Pulejo＂ （Messina）, were consecutively enrolled. The Unified Parkinson Disease Rating Scale motor subscale （UPDRS-Ⅲ） scores, the Parkinson Disease Questionnaire-39 Item scores （as a disease-specific measure of health-related quality of life）, scores on the Short Form （36） Health Survey Questionnaire （as a generic measure）, and answers to a brief checklist were recorded. A total of 85 Parkinson＇s disease patients （49% males and 51% females; mean age 70.8 ± 8.6 years mean UPDRS-Ⅲ 24.15 ± 6.55; mean disease duration 5.52 ± 4.65 years） completed the booklet of questionnaires. In the multivariate regression analysis, we included clinical and social variables as independent predictors of health-related quality of life. Our results suggest a potential compounding effect of ecological intrapersonal and interpersonal levels on health-related quality of life outcomes. Gender, self-evaluated autonomy and family size significantly impacted health-related quality of life. If quality of life is used as an indicator of treatment outcomes, an ecological perspective of the case history will be important to disclose relevant prognostic information and trigger personalized health care interventions.

Role of genomics in cardiovascular medicine

As all branches of science grow and new experimental techniques become readily accessible,our knowledge of medicine is likely to increase exponentially in the coming years.Recently developed technologies have revolutionized our analytical capacities,leading to vast knowledge of many genes or genomic regions involved in the pathogenesis of congenital heart diseases,which are often associated with other genetic syndromes,coronary artery disease and non-ischemic cardiomyopathies and channelopathies.The knowledge-base of the genesis of cardiovascular diseases is likely going to be further revolutionized in this new era of genomic medicine.Here,we review the advances that have been made over the last several years in this field and discuss different genetic mechanisms that have been shown to underlie a variety of cardiovascular diseases.

Magnetic resonance imaging markers for early diagnosis of Parkinson's disease

Parkinson＇s disease （PD） is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigrostriatal neurons are degenerated and 80% of content of the striatal dopamine is reduced before the diagnosis can be established according to widely accepted clinical diagnostic criteria. This condition describes a stage of disease called ＂prodromal＂, where non-motor symptoms, such as olfactory dysfunction, constipation, rapid eye movement behaviour disorder, depression, precede motor sign of PD. Detection of prodromal phase of PD is becoming an important goal for determining the prognosis and choosing a suitable treatment strategy. In this review, we present some non-invasive instrumental approaches that could be useful to identify patients in the prodromal phase of PD or in an early clinical phase, when the first motor symptoms begin to be apparent. Conventional magnetic resonance imaging （MRI） and advanced MRI techniques, such as magnetic resonance spectroscopy imaging, diffusion-weighted and diffusion tensor imaging and functional MRI, are useful to differentiate early PD with initial motor symptoms from atypical parkinsonian disorders, thus, making easier early diagnosis. Functional MRI and diffusion tensor imaging techniques can show abnormalities in the olfactory system in prodromal PD.

Diffusion-weighted imaging and fluid-attenuated inversion recovery sequence in sporadic Creutzfeldt-Jakob disease:One-case report

The diagnosis of sporadic Creutzfeldt-Jakob disease （sCJD） is extremely difficult. Diffusion-weighted imaging has been shown to be the most sensitive technique for the detection of signal alterations in sCJD patients. The present study analyzed the diagnostic value of diffusion-weighted imaging and fluid-attenuated inversion recovery sequence in the early stage of sCJD in one female patient and correlated the clinical symptoms during disease course and magnetic resonance manifestations. Thalamic and basal ganglia hyperintensities were observed on magnetic resonance images in a very early stage, i.e., when the clinical typical manifestations of the disease were not present. With the progression of the disease, cortical and basal ganglia hyperintensities were observed on magnetic resonance images, showing an obvious cerebral atrophy. These findings suggest that diffusion-weighted imaging and fluid-attenuated inversion recovery sequence are helpful in diagnosing sCJD.