Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3).

Objectives: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients.

Methods: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years.

[Hepatocellular Carcinoma Cells with Downregulated ZEB2 Become Resistant to Resveratrol by Concomitant Induction of ABCG2 Expression].

In hepatocellular carcinoma (HCC), the presence of cancer stem cells (CSCs) have been linked to drug resistance, epithelial-mesenchymal transition (EMT), and cancer relapse. This study investigates the expression profile of ZEB1, ZEB2, ABCG2 in HCC-CSCs, and the role of EMT promoter ZEB2 in cells treated with resveratrol. The expression of ZEB1, ZEB2 and ABCG2 transcripts were analyzed in CD133^(+)/CD44^(+) cells isolated from the PLC/PRF/5 cell line.

Bacteremia due to Achromobacter xylosoxidans in neonates: clinical features and outcome.

Objective: We report an outbreak of Achromobacter xylosoxidans at a neonatal intensive care unit. We aimed to present clinical, laboratory and treatment data of the patients.

Materials And Methods: All consecutive episodes of bacteremia due to A.

Congenital malalignment of the great toenails in dizygotic twins.

Congenital malalignment of the great toenails is a nail disorder caused by the malalignment of the nail matrix, which results in lateral growth of the nail plate. It may cause onychogryphosis and, in infants and children, ingrown nails. We report an occurrence of this deformity in dizygotic twins.