Temporal Changes in PROMs Improvement and Recovery Kinetics Following Transforaminal Endoscopic Lumbar Discectomy.

Study Design: Retrospective cohort study.

Objective: to analyze trends in PROMs improvement and recovery kinetics following transforaminal endoscopic lumbar discectomy and foraminotomy (TELD).

Summary Of Background Data: As TELDs become an increasingly common alternative to fusions for lateral disc herniations, it is important to understand patients' postoperative recovery timelines to manage patient expectations.

Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study.

Background: To achieve universal healthcare coverage (UHC), the rare disease (RD) population must also receive quality healthcare without financial hardship. This study evaluates the impact of RDs in Hong Kong (HK) by estimating cost from a societal perspective and investigating related risk of financial hardship.

Methods: A total of 284 RD patients and caregivers covering 106 RDs were recruited through HK's largest RD patient group, Rare Disease Hong Kong, in 2020.

Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level.

Objectives: This study aimed to establish a normative profile of health-related quality of life (HRQOL) of the rare disease (RD) population in Hong Kong (HK) and identify potential predictors.

Methods: Between March 2020 and October 2020, patients with RD and caregivers were recruited through Rare Disease Hong Kong, the largest RD patient group alliance in HK. HRQOL was derived using the EQ-5D 3-Level with reference to the established HK value set.

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.

Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined.

Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).

The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research to be locally meaningful yet internationally comparable.

Extracellular hyperosmotic stress stimulates glucose uptake in incubated fast-twitch rat skeletal muscle.

The influence of hyperosmotic stress on glucose uptake, handling, and signaling processes remains unclear in mammalian skeletal muscle. Thus, the purpose of this study was to investigate alterations in glucose uptake and handling during extracellular hyperosmotic stress in isolated fast-twitch mammalian skeletal muscle. Using an established in vitro isolated whole-muscle model, extensor digitorum longus (EDL) muscles were dissected from male rats (4-6 weeks of age) and incubated (30-60 min) in an organ bath, containing Sigma Medium-199 with 8 mmol·L(-1) D-glucose, and mannitol was added to the targeted osmolalities (ISO, iso-osmotic, 290 mmol·kg(-1); HYPER, hyperosmotic, 400 mmol·kg(-1)).