Pathogenic variants in , , and cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Background: Primary ciliary dyskinesia is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society primarily recommends an evaluation of the clinical history ( by the PICADAR prediction tool), nasal nitric oxide production rate measurements, high-speed videomicroscopy analysis of ciliary beating and an assessment of ciliary axonemes transmission electron microscopy. Genetic testing can be implemented as a last step.

"SpezPat"- common advance directives versus disease-centred advance directives: a randomised controlled pilot study on the impact on physicians' understanding of non-small cell lung cancer patients' end-of-life decisions.

Background: The advance directive represents patients' health care choices and fosters patients' autonomy. Nevertheless, understanding patients' wishes based on the information provided in advance directives remains a challenge for health care providers. Based on the ethical premises of positive obligation to autonomy, an advanced directive that is disease-centred and details potential problems and complications of the disease should help health care providers correctly understand patients' wishes.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Methods: Clinical, genomic, biochemical, and functional studies were performed alongside in vivo modeling of DAW1 variants.

Using Instagram to Enhance a Hematology and Oncology Teaching Module During the COVID-19 Pandemic: Cross-sectional Study.

Background: The COVID-19 pandemic necessitated the rapid expansion of novel tools for digital medical education. At our university medical center, an Instagram account was developed as a tool for medical education and used for the first time as a supplement to the hematology and medical oncology teaching module of 2020/2021.

Objective: We aimed to evaluate the acceptance and role of Instagram as a novel teaching format in the education of medical students in hematology and medical oncology in the German medical curriculum.

Sarcoidosis Following Hematopoietic Stem Cell Transplantation: Clinical Characteristics and HLA Associations.

Purpose: Extrinsic factors and genetic predisposition contribute to the etiology of sarcoidosis, converging in a phenotype of altered immune response associated with multisystemic inflammatory granulomatous tissue infiltration. Immunological reconstitution after hematopoietic stem cell transplantation (HSCT) may represent a unique window for the pathogenesis of the disease. We describe the incidence, clinicopathological features, and HLA associations of sarcoidosis after HSCT in a single-center cohort of patients, together with data from previously published cases.