Energy management education for persons living with long COVID-related fatigue (EMERGE): protocol of a two-parallel arms target trial emulation study in a multicentre outpatient intervention setting with an online control group register.

Introduction: Energy management education (EME) is a manualised, evidence-based self-management education programme developed and delivered by occupational therapists for persons living with chronic disease-related fatigue. Studies have shown that EME can positively affect self-efficacy, fatigue impact and quality of life in persons with chronic conditions, while data on persons with long COVID are lacking.The primary aim is to evaluate if adding EME to the standard care improves outcomes in persons with long COVID-related fatigue.

Initial surgical management of spinal injuries in patients with multiple and/or severe injuries- the 2022 update of the German clinical practice guideline.

Purpose: Our aim was to update evidence-based and consensus-based recommendations for the initial surgical management of spinal (cord) injuries in patients with multiple and/or severe injuries based on current evidence. This guideline topic is part of the 2022 update of the German Guideline on the Treatment of Patients with Multiple and/or Severe Injuries.

Methods: MEDLINE and Embase were systematically searched to May 2021.

Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A).

Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A).

Inter-chromosomal contacts demarcate genome topology along a spatial gradient.

Non-homologous chromosomal contacts (NHCCs) between different chromosomes participate considerably in gene and genome regulation. Due to analytical challenges, NHCCs are currently considered as singular, stochastic events, and their extent and fundamental principles across cell types remain controversial. We develop a supervised and unsupervised learning algorithm, termed Signature, to call NHCCs in Hi-C datasets to advance our understanding of genome topology.

Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in have been reported as causal for XGS, comprising mainly stop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus.

Case Presentation: We hereby report 2 patients with clinical features of XGS.