Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.

Objective: This study was undertaken to test the following hypotheses in the Atp1a3 mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na/K-adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected death in epilepsy (SUDEP) occurs during seizures and is due to terminal apneas in some and due to lethal cardiac arrhythmias in others; and Atp1a3 mice have central cardiorespiratory dysregulation and abnormal respiratory drive.

Methods: Comparison was made of littermate wild-type and Atp1a3 groups using (1) simultaneous in vivo video-telemetry recordings of electroencephalogram, electrocardiogram, and breathing; (2) whole-body plethysmography; and (3) hypoglossal nerve recordings.

Results: In Atp1a3 mice, (1) SUDEP consistently occurred during seizures that were more severe than preterminal seizures; (2) seizure clustering occurred in periods preceding SUDEP; (3) slowing of breathing rate (BR) and heart rate was observed preictally before preterminal and terminal seizures; and (4) the sequence during terminal seizures was as follows: bradypnea with bradycardia/cardiac arrhythmias, then terminal apnea, followed by terminal cardiac arrhythmias.

Nutritional Status in Locally Advanced or Metastatic Solid Cancer Patients Treated With Chemotherapy, Radiotherapy, and Immunotherapy in Spanish Outpatient Oncology Units.

Objectives: Malnutrition is a prevalent condition in cancer patients that significantly impacts patients' clinical outcomes and health-related quality of life (HR-QoL). The outcome was to characterize the nutritional status by describing the prevalence of malnutrition (mild, moderate, or severe) and its risk in outpatient cancer patients.

Methods: Multicenter, prospective, cross-sectional, descriptive, two-cohort study conducted on consecutive adult patients with locally advanced or metastatic solid tumors (stages III-IV).

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Sensitive and accurate proteome profiling of embryogenesis using Real-Time Search and TMTproC quantification.

Multiplexed proteomics has become a powerful tool for investigating biological systems. Using balancer-peptide conjugates (e.g.

Low Back Pain Disparities in Portugal: A Population-Based Study Analysing the Role of Social Determinants of Health.

Introduction: Despite growing research, the relationship between social determinants of health (SDoH) and low back pain (LBP) remains inconsistent. This study aimed to investigate the associations between SDoH and self-reported LBP in the Portuguese population in 2019 and explore potential differences between rural and urban areas.

Methods: This is a cross-sectional study that includes 13,230 participants from the 2019 Portuguese National Health Interview Survey.