Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM.

Temporary extracorporeal membrane oxygenation in patients with refractory postoperative cardiogenic shock--a single center experience.

Background: Approximately 1% of patients require temporary circulatory support due to refractory cardiogenic shock following cardiac surgery. Such patients are at very high risk for subsequent morbidity and mortality. We evaluated the results of temporary extracorporeal membrane oxygenation (ECMO) support in patients with postcardiotomy cardiogenic shock.