Immune Cell-Based versus Albumin-Based Ratios as Outcome Predictors in Critically Ill COVID-19 Patients.

Purpose: The aim of the retrospective, single-center study was to assess the prognostic value of immune cell-based and albumin-based ratios regarding lethal outcome in critically ill COVID-19 patients.

Patients And Methods: We analyzed 612 adult critically ill COVID-19 patients admitted to the intensive care unit (ICU) between April 2020 and November 2022. Blood measurement on admission to the ICU encompassed complete blood count (CBC), IL-6, C-reactive protein (CRP), albumin, lactate, lactate dehydrogenase (LDH), serum bicarbonate, arterial base deficit/excess (BD/E), and D-dimer.

A novel deep intronic variant in LAMA2 identified by RNA sequencing.

LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement. Advancements in genomic testing using NGS and wider application of RNA sequencing has expanded our knowledge of novel non-coding pathogenic variants in LAMA2.

Effects of High-Intensity Interval Training (HIIT) on Physical Performance in Female Team Sports: A Systematic Review.

Background: There is limited information regarding adaptation of HIIT in female athletes which is important since the adaptation to HIIT may be different compared to male athletes. Therefore, the aim of this systematic review was to summarize the effects of HIIT on physical performance in female team sports athletes.

Methods: The following databases Google Scholar, PubMed, Web of Science, Cochrane Library, ProQuest and Science Direct were searched prior to September 2nd, 2022.

Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study.

Objective: Spinal muscular atrophy (SMA) is a neuromuscular disorder that manifests with motor deterioration and respiratory complications. The paradigm of care is shifting as disease-modifying therapies including nusinersen, onasemnogene abeparvovec and risdiplam alter the disease trajectory of SMA. The objective of this study was to explore caregivers' experiences with disease-modifying therapies for SMA.

Ethical challenges and opportunities in the development and approval of novel therapeutics for rare diseases.

The development of novel therapeutics for rare "orphan" diseases has brought a growing tension between the desire to accelerate access to these breakthrough therapies and the need to generate quality evidence regarding their safety and efficacy. Accelerating the pace of drug development and approval may facilitate the rapid delivery of benefits to patients and cost savings for research and development, which theoretically improves affordability of drugs for the health system. However, several ethical challenges arise with expedited approval, compassionate release of drugs, and subsequent study of drugs in "real-world" settings.