The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6095
Abstract: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally… read more here.
Keywords: findings postnatal; prevalence prenatal; prevalence; sonographic findings ... See more keywords
The utility of an under-distended gallbladder on ultrasound in ruling out acute cholecystitis
Sign Up to like & getrecommendations! Published in 2021 at "Abdominal Radiology"
DOI: 10.1007/s00261-020-02902-y
Abstract: Purpose To study the association between gallbladder dimensions and acute cholecystitis and to define a sensitive cutoff for excluding the disease. Materials and methods 456 consecutive patients with an abdominal ultrasound performed for right upper… read more here.
Keywords: cholecystitis; sonographic findings; gallbladder; radiology ... See more keywords
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Rehabilitation Medicine"
DOI: 10.5535/arm.2017.41.2.313
Abstract: Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with… read more here.
Keywords: sonographic findings; xanthomatosis; findings polyneuropathy; report ... See more keywords