The results of this study highlight the diffusion of Orthorexia which may constitute an important risk factor for mental and physical health, but also the opportunity of more specific diagnostic instruments, so to facilitate a thorough understanding of this disorder.
SUMMARY A standardized protocol was used for duplicate examination by two neurologists of the clinical history and neurological signs in 55 patients with reversible cerebral ischemia. One trained examiner from each of eight clinical centres involved in the Italian Cooperative Study on reversible cerebral ischemia participated in this research. Duplicate examinations were compared in order to evaluate the percentage of agreement achieved in the responses. Several discrepancies relating to either historical data or neurological signs were detected. Possible causes of this disagreement are discussed. The inter-observer differences appear to be an important problem to be faced in cooperative studies on reversible ischemic attacks. The purpose of the study was to estimate these differences in the attempt to increase the degree of agreement by repeated training sessions and discussion between the different examiners. These efforts are needed to improve the quality of clinical investigations on reversible cerebral ischemia and to increase the validity of their results.Stroke, Vol 13, No 1, 1982 THE magnitude of inter-observer discrepancies has to be carefully evaluated in any clinical research, especially one performed by several cooperative centres. The relevance of disagreement between two observers in reporting physical signs has been previously stressed.
Background and Purpose—
Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease
Methods—
We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis.
Results—
In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease.
Conclusions—
In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.
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