Noninvasive Assessment of Liver Fibrosis in Patients With Iron Overload.

Objective: We assessed the diagnostic performance of ultrasound two-dimensional shear wave elastography (US 2D-SWE) to predict clinically significant fibrosis (CSF) in patients with serologic iron overload (SIO) and the subgroup with histologic liver iron overload (LIO).

Methods: A single-center retrospective cross-sectional study of adults with SIO (serum ferritin ≥ 200 ng/mL in females and ≥ 300 ng/mL in males) and suspected chronic liver disease with nonfocal liver biopsy results and US 2D-SWE exams within 1 year was performed. Histopathological fibrosis stage ≥2 and liver iron ≥2+ was considered CSF and LIO, respectively.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.

Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

Background: Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management recommendations for VUS patients and their families, is important to prevent over- or under-treatment that may result in morbidity or mortality. The purpose of this study is to describe practices related to VUS results including information and medical management recommendations providers give patients and their families.

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams-Beuren syndrome (WBS). These defects occur with variable penetrance and expressivity, but the basis of this is unknown.

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.

We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.