Peak Systolic Velocity >125 cm/s Overdiagnoses Carotid Artery Stenosis >50% in Carotid Duplex Scan / 대한혈관외과학회지

PURPOSE: Carotid duplex scan is a frequent option for initial carotid artery evaluation. There has been debates about accuracy of peak systolic velocity (PSV) >125 cm/s, which has been used to diagnose >50% carotid artery stenosis (CAS) in most vascular laboratories. This study is conducted to evaluate PSV >125 cm/s as a diagnostic tool for 50%> CAS. METHODS: The retrospective review was done for subjects, who had PSV >125 cm/s in carotid artery screening test in == Hospital from November 2008 to June 2011. The screening study was conducted to healthy senior volunteers to screen CAS. The subject who has PSV >125 cm/s was evaluated by carotid computed tomography (CT) scan. The clinical characteristics were surveyed. RESULTS: One hundred forty seven subjects were diagnosed with CAS using duplex scan from 1,953 subjects who underwent screening tests. Twenty eight with 33 lesions underwent carotid CT scan. There were 71% hypertension, 21% diabetes mellitus, 21% ischemic heart disease, 17% lipid disorder, and 67% smoking history. Seventeen lesions showed >50% CAS while 16 showed 125 cm/s was 49% in this study. For diagnostic accuracy, diagnostic criteria should be established in each vascular lab.

Disabilities caused by unstable mutations in Costa Rica

Myotonic dystrophy and fragile X syndrome are two genetically determined relatively common disabilities. Both are examples of a new type of mutation mechanism called unstable or dynamic mutations, triple repeats expansions or DNA amplification. Fragile X syndrome is recognized as the main cause of hereditary mental retardation and myotonic dystrophy is considered the most common muscular dystrophy of adults. This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques (Southern blot and PCR) and to perform cascade screening of the rest of the family to offer them adequate genetic counseling. We were able to corroborate the initial diagnosis in most clinical cases of myotonic dystrophy, but in the cases of mental retardation more than half studies were negative for fragile X syndrome, stressing the difficulties encountered by medical practitioners to diagnose this syndrome. The reasons for this are several; probable the main culprit is the subtle and unspecific clinical picture affected individuals exhibit, particularly children before puberty. Cascade screening, genetic counseling and selective abortion are the only tools available to prevent these disabling diseases for the moment.