Purpose: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring the spectrum of clinical phenotypes and assessing potential genotype-phenotype correlations.
Methods: Clinical features of individuals with pathogenic NR2F1 variants were evaluated by review of medical records.
The increased use of clinical ultrasound in diagnostic scanning of the pregnant uterus, in fetal monitoring, and in neonatal physiologic monitoring, have led to a concern for the safety aspects of clinically used ultrasonic dosage levels. In this paper, the current status of the understanding of the interaction mechanisms of ultrasound with biological media and the factors that govern different biological effects are surveyed. There is a critical need for further investigations to establish safe dosage levels for the fetus, and guidelines for adequate ultrasonic equipment manufacturing and management practices.
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