Planned Surgical Trajectory Affects Clinical Motor Outcome in Deep Brain Stimulation Targeted at Subthalamic Nucleus for Parkinson's Disease.

Background And Objectives: Surgical planning is critical to achieve optimal outcome in deep brain stimulation (DBS). The relationship between clinical outcomes and DBS electrode position relative to subthalamic nucleus (STN) is well investigated, but the role of surgical trajectory remains unclear. We sought to determine whether preoperatively planned DBS lead trajectory relates to adequate motor outcome in STN-DBS for Parkinson's disease (PD).

Impact of Additional Active Treatment for Prostate Cancer on Health-related Quality of Life of Men: Results from the EUPROMS 2.0 1-year Follow-up Survey.

Background And Objective: In 2019 and 2021, Europa Uomo initiated the Europa Uomo Patient Reported Outcome Study (EUPROMS) and the EUPROMS 2.0 survey, with the goal of collecting data on patients' self-reported perspective on physical and mental well-being outside of a clinical trial setting, to be able to investigate the burden of prostate cancer (PCa) treatment from a patient-to-patient perspective. Acknowledging the importance of collecting quality of life (QoL) follow-up data, a 1-yr follow-up (1yrFU) study was conducted to assess the effect of additional PCa treatment on QoL.

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.

Biallelic pathogenic variants in the nebulin ( ) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in . Previously, a mouse model of was developed; however, it presented an uncharacteristically severe phenotype with a near complete reduction in transcript expression that is not observed in exon 55 patients.

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).