Publications by authors named "C C J Eggers"
Ubiquitin-related modifier 1 (Urm1) is a highly conserved member of the ubiquitin-like (UBL) family of proteins. Urm1 is a key component of the eukaryotic transfer RNA (tRNA) thiolation cascade, responsible for introducing sulfur at wobble uridine (U34) in several eukaryotic tRNAs. Urm1 must be thiocarboxylated (Urm1-SH) by its E1 activating enzyme UBL protein activator 4 (Uba4).
View Article and Find Full Text PDFBackground: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system that can lead to severe disability from muscle weakness and sensory disturbances. Around a third of patients do not respond to currently available treatments, and many patients with a partial response have residual neurological impairment, highlighting the need for effective alternatives. Efgartigimod alfa, a human IgG1 antibody Fc fragment, has demonstrated efficacy and safety in patients with generalised myasthenia gravis.
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- A case report details a 56-year-old overweight smoker who experienced chronic hemoptysis, which is coughing up blood, due to severe obstructive sleep apnea (OSA) causing repetitive negative pressures in the chest.
- The patient presented multiple times to the emergency room, exhibiting daytime sleepiness and requiring bronchoscopies that caused further airway collapse and bleeding.
- Polysomnography later revealed critical levels of OSA, which was successfully treated with positive pressure therapy, highlighting the need to consider OSA as a potential cause of hemoptysis in similar cases.
Article Synopsis
- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
Article Synopsis
- The study aimed to create a shorter version of the Progressive Supranuclear Palsy quality of life scale (PSP-QoL) to make it easier for patients, especially those with cognitive impairments, to complete.
- Involved a retrospective analysis of data from 245 PSP patients in Germany, resulting in a condensed 12-item scale that covers mental and physical aspects of daily living.
- The new scale, called the PSP-ShoQoL, showed strong correlations with existing measures of quality of life and demonstrated its sensitivity to changes over time.