Background: Familial hypocalciuric hypercalcemia (FHH) is often due to inactivating variants in the calcium-sensing receptor (CASR) gene causing chronically elevated plasma calcium levels with inappropriately normal or elevated parathyroid hormone levels. In patients with primary hyperparathyroidism, the state of hyperparathyroid hypercalcemia is associated with reduced muscle strength and impaired quality of life (QoL).
Objective: To study whether FHH affects muscle function, postural stability, and QoL.
Design: In a cross-sectional study, we investigated muscle strength (handgrip, elbow flexion/extension, and knee flexion/extension), balance function, physical activity, and QoL in 50 patients with FHH and in a similar number of age- and gender-matched population-based healthy controls. All but one of the FHH cases had genetically verified inactivating variants in the CASR gene.
Results: Studied subjects (n=100, 68% females) had a mean age of 56.0 years. Muscle strength as assessed by measuring maximum force and maximum force production did not differ between the groups. Neither did groups differ in terms of QoL, physical activity, or postural stability, as assessed during normal standing with eyes open, normal standing with eyes closed, semi-tandem standing, or tandem standing. Adjustment for vitamin D status (plasma 25-hydroxyvitamin D levels) and BMI did not change results.
Conclusion: Despite a state of chronic hypercalcemia, muscle strength, balance function, and QoL are not impaired in patients with FHH. Our findings are reassuring for patients with FHH as they should not be considered as having a severe disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1530/EJE-13-0224 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Therapeutic effect of titanium locking plate combined with suture anchor repair in proximal humeral fractures.
Pak J Med Sci
January 2025
Zhenfeng Huang Department of Orthopedic Trauma, Wuhan Fourth Hospital, Wuhan, Hubei Province 430000, P.R. China.
Objective: To explore the therapeutic effect of titanium locking plate combined with suture anchor (SA) repair in the treatment of proximal humeral fractures (PHF).
Methods: This retrospective study was conducted by analyzing the clinical data of 113 patients with PHF admitted to Wuhan Fourth Hospital from March 2021 to October 2023. Among them, 55 patients underwent open reduction and internal fixation (OR/IF) using titanium locking plate (OR/IF group), and 58 patients underwent surgery with titanium locking plate combined with SA (SA group).
Stay in the Game: Comprehensive Approaches to Decrease the Risk of Sports Injuries.
Cureus
December 2024
Physiotherapy and Physical Medicine, University of Dschang, Dschang, CMR.
Recurrent sports injuries present complex challenges that extend beyond the playing field, impacting athletes' physical well-being, mental resilience, and financial stability. This review outlines a comprehensive framework designed to prevent and manage these setbacks, empowering athletes to achieve sustained performance and recovery. This multidimensional issue requires an integrative approach encompassing physical rehabilitation, psychological resilience, and nutritional strategies.
View Article and Find Full Text PDFEvaluation of Thigh Muscle Strength in Adolescent Patients After Anterior Cruciate Ligament Reconstruction With Lateral Extra-articular Tenodesis or Anterolateral Ligament Reconstruction.
Orthop J Sports Med
January 2025
Department of Kinesiology, University of Virginia, Charlottesville, Virginia, USA.
Background: There has been increased interest in lateral extra-articular procedures, such as anterolateral ligament reconstruction (ALLR) or lateral extra-articular tenodesis (LET), to reduce anterolateral rotation instability of the knee after anterior cruciate ligament reconstruction (ACLR). Despite promising surgical outcomes with these techniques, their impact on knee strength recovery is unknown.
Hypothesis: Patients undergoing lateral extra-articular procedures at the time of ACLR would have impaired thigh muscle strength at 6 to 9 months after surgery.
Novel approach for noninvasive pelvic floor muscle strength measurement using extracorporeal surface perineal pressure measurement and machine learning modeling.
Digit Health
January 2025
Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Jongno-gu, Seoul, Korea.
Objective: Accurate measurement of pelvic floor muscle (PFM) strength is crucial for the management of pelvic floor disorders. However, the current methods are invasive, uncomfortable, and lack standardization. This study aimed to introduce a novel noninvasive approach for precise PFM strength quantification by leveraging extracorporeal surface perineal pressure (ESPP) measurements and machine learning algorithms.
View Article and Find Full Text PDFEffects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.
Front Neurol
January 2025
Department of Rehabilitation, Maruki Memorial Medical and Social Welfare Center, Saitama, Japan.
Background: Evidence of the effectiveness of physiotherapy, including muscle strength training, coordination training, aerobic exercise, cycling regimen, balance training, gait training, and activity of daily living training, in patients with degenerative cerebellar ataxia (DCA) was insufficient for clinical decision making. We aimed to explore clinical outcomes and examine the parameters associated with physical impairment and activity in people with DCA based on preregistration (PROSPERO: CRD42024493883).
Methods: The PubMed, Cochrane Library, CHINAL, and PEDro databases were searched for relevant randomized controlled trials (RCTs).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!