ABSTRACT
Three sibs aged 14, 13 and 10 years are described. The Marfan's syndrome was inherited from their father. Full penetration and pseudovariable expressivity of the mutant gene were characteristic of the case. With pronounced phenotypic manifestations of the mutation inherited, the lack of typical ocular anomalies was evident.
Subject(s)
Marfan Syndrome/genetics , Adolescent , Child , Female , Humans , Male , Marfan Syndrome/classification , Marfan Syndrome/diagnosis , Mutation , PhenotypeABSTRACT
Using Doppler ultrasonography (DUSG) under outpatient conditions multiple combined lesions of the main arteries of the head were found in 127 patients. Comparison of the above results with the findings of cerebral angiography showed a high efficiency of DUSG. In occlusion of the carotid and vertebral arteries the accuracy of the method was 99%, specificity 99%, sensitivity 100%; in stenoses of the internal carotid arteries the respective values were 88, 84, and 95%; in cases of all stenoses of the vertebral arteries they were 93, 92, and 94%. A comparative analysis of the clinical, Doppler and angiographic findings revealed that an increase in the frequency and degree of impairment of the main arteries of the head correlated with an elevated rate of cerebral circulation disorders in several vascular beds.
Subject(s)
Cerebrovascular Disorders/diagnosis , Aged , Brain Ischemia/diagnosis , Cerebral Angiography , Cerebrovascular Circulation , Constriction, Pathologic/diagnosis , Female , Humans , Intracranial Arteriosclerosis/diagnosis , Ischemic Attack, Transient , Male , Middle Aged , Rheology , UltrasonographyABSTRACT
The results of a 12 month follow-up of 3 groups of age-matched children (7 boys in each group) with an identically malignant course of Duchenne's myodystrophy determined by means of a genealogical analysis are presented. The fastest progression of the disease was observed in children receiving conventional treatment. Untreated children showed slower progression of the disease. In patients on allopurinol treatment the process was somewhat checked or there was some regression of symptomatology.
