Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.

Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.

[Digitally based clinically oriented anatomy: the future of teaching].

University teaching is undergoing radical changes. Rising student numbers and the progressive digitalization of routine daily life are also leading to the testing of various new teaching and learning formats. This article provides an overview of the reasons for and approaches used to effectively and efficiently organize teaching of anatomy using digital learning methods and to fulfil the expectations of students.

Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders.

Objective: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have been identified in ophthalmological and neurological diseases. Since PHOMS were found more frequently in these cohorts compared to healthy controls, it is assumed that the presence of PHOMS reflects a secondary disease marker of unknown significance. The extent to which disease-specific differences are reflected in PHOMS has not yet been sufficiently investigated.

Discovery of peptides for ligand-mediated delivery of mRNA lipid nanoparticles to cystic fibrosis lung epithelia.

For cystic fibrosis patients, a lung-targeted gene therapy would significantly alleviate pulmonary complications associated with morbidity and mortality. However, mucus in the airways and cell entry pose huge delivery barriers for local gene therapy. Here, we used phage display technology to select for and identify mucus- and cell-penetrating peptides against primary human bronchial epithelial cells from cystic fibrosis patients cultured at the air-liquid interface.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

Background/objectives: Genetic newborn screening (NBS) has already entered the phase of common practice in many countries. In Germany, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and sickle cell disease (SCD) are currently a mandatory part of NBS. Here, we describe the experience of six years of genetic NBS including the prevalence of those three diseases in Germany.