ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset hereditary stroke syndrome characterized by recurrent stroke and progressive cognitive impairment caused by NOTCH3 mutations. We report here the clinical and molecular findings of three unrelated Hong Kong Chinese families with CADASIL syndrome. Sanger sequencing of genomic DNA revealed a novel heterozygous variant NM_000435.2(NOTCH3):c.[5903_5904insATAA];[5903_5904=] NP_000426.2:p.(Asp1969∗);(Asp1969=) and two previously reported heterozygous mutations NM_000435.2(NOTCH3):c.[328C>T];[328C=] NP_000426.2:p.[(Arg110Cys)];[(Arg110=)] and NM_000435.2(NOTCH3):c.[580T>A];[580T=] NP_000426.2:p.(Cys194Ser);(Cys194=) in the three families respectively. Molecular basis of CADASIL in these three patients were further established. Genetic analysis provides a reliable method for confirming the diagnosis of CADASIL and enables proper genetic counseling and cascade testing.
Subject(s)
CADASIL/genetics , Mutation , Receptor, Notch3/genetics , Adult , Ankyrin Repeat , Female , Heterozygote , Hong Kong , Humans , Male , Middle Aged , Receptor, Notch3/chemistryABSTRACT
UNLABELLED: The increasing prevalence of breast augmentation presents new challenges in breast imaging interpretation. Magnetic resonance imaging (MRI) is recognized as the gold standard for the evaluation of augmented breasts. This article reviews the MRI features of different breast augmentation techniques, their associated complications, and the role of MRI in the assessment of concurrent breast abnormalities. TEACHING POINTS: ⢠MRI has the highest sensitivity and specificity for implant rupture detection. ⢠MRI is able to discriminate the nature of implanted prosthesis or injected materials. ⢠Sensitivity of cancer detection by MRI is not reduced through implants.
