PubMed · 4878266
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S Poenaru, D Stoian. 1968. [Echoencephalography. Current value and perspectives].. https://pubmed.ncbi.nlm.nih.gov/4878266/
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BACKGROUND: Cardiomyopathy (CM) remains one of the leading cardiac causes of death in children, although in the majority of cases, the cause is unknown. To have an impact on morbidity and mortality, attention must shift to etiology-specific treatments. The diagnostic evaluation of children with CM of genetic origin is complicated by the large number of rare genetic causes, the broad range of clinical presentations, and the array of specialized diagnostic tests and biochemical assays. METHODS AND RESULTS: We present a multidisciplinary diagnostic approach to pediatric CM of genetic etiology. We specify criteria for abnormal left ventricular systolic performance and structure that suggest CM based on established normal echocardiographic measurements and list other indications to consider an evaluation for CM. We provide a differential diagnosis of genetic conditions associated with CM, classified as inborn errors of metabolism, malformation syndromes, neuromuscular diseases, and familial isolated CM disorders. A diagnostic strategy is offered that is based on the clinical presentation: biochemical abnormalities, encephalopathy, dysmorphic features or multiple malformations, neuromuscular disease, apparently isolated CM, and pathological specimen findings. Adjunctive treatment measures are recommended for severely ill patients in whom a metabolic cause of CM is suspected. A protocol is provided for the evaluation of moribund patients. CONCLUSIONS: In summary, we hope to assist pediatric cardiologists and other subspecialists in the evaluation of children with CM for a possible genetic cause using a presentation-based approach. This should increase the percentage of children with CM for whom a diagnosis can be established, with important implications for treatment, prognosis, and genetic counseling.
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Using a guessing paradigm we measured visual sensitivity in the blind and normal half-fields of four cerebrally hemidecorticated patients. In the blind field, sensitivity was reduced by approximately 3 long units. Stimuli which produced significant detection also evoked conscious sensations of light and colour. Control experiments showed that although sensitivity in the blind field depended in a normal fashion on background luminance it was independent of the luminance of a local platform, and showed no spatial summation. This residual vision can be explained by intraocular light diffusion and reflection.