Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.

Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).

Design: Longitudinal observational follow-up study.

Derivation of two induced pluripotent stem cell lines from a healthy control subject.

Two human induced pluripotent stem cell lines, LEIi021-A and LEIi021-B, were derived from dermal fibroblasts from a healthy control subject from an Australian Aboriginal family with retinitis pigmentosa-11. Reprogramming was performed using episomal vectors expressing OCT4, SOX2, LIN28, L-MYC, KLF4 and mp53DD. Pluripotency markers were expressed in both LEIi021-A and LEIi021-B lines.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Introduction: Autosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically associating domain (TAD) structure of the locus, creating novel TAD structures (neo-TADs) and ectopic enhancer-gene contacts. Currently, screening for RP17-associated SVs is not included in routine diagnostics given the complexity of the variants and a lack of cost-effective detection methods.

[Institutionalised Pre-School Childcare and Reported Maltreatment: A Survey in East Germany].

Child abuse increases the risk of adult mental health problems. Limited research explores the association of early institutional childhood care in the GDR with experienced childhood abuse and mediates anxiety and depression in adulthood. The sample includes N=1743 individuals born in the GDR (1949-1983).