scholarly journals Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR)

2013 ◽  
Vol 169 (3) ◽  
pp. 349-357 ◽  
Author(s):  
Niels Frederik Breum Jakobsen ◽  
Lars Rolighed ◽  
Peter H Nissen ◽  
Leif Mosekilde ◽  
Lars Rejnmark
Keyword(s):  
Muscle Strength ◽  
Postural Stability ◽  
Cross Sectional Study ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Sectional Study ◽  
Calcium Sensing Receptor ◽  
Cross Sectional ◽  
Calcium Sensing ◽  
Flexion Extension

BackgroundFamilial 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).ObjectiveTo study whether FHH affects muscle function, postural stability, and QoL.DesignIn 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 theCASRgene.ResultsStudied 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.ConclusionDespite 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.

scholarly journals The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene

2016 ◽  
Vol 175 (4) ◽  
pp. 299-309 ◽  
Author(s):  
Niels Frederik Breum Jakobsen ◽  
Esben Laugesen ◽  
Lars Rolighed ◽  
Peter H Nissen ◽  
Per Løgstrup Poulsen ◽  
...  
Keyword(s):  
Cardiovascular System ◽  
Antihypertensive Drugs ◽  
Cross Sectional Study ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Sectional Study ◽  
Calcium Sensing Receptor ◽  
Cross Sectional ◽  
Calcium Sensing ◽  
Number Of Patients ◽  
Increased Risk

Objective Loss-of-function variants in the gene encoding the calcium-sensing receptor (CASR) result in familial hypocalciuric hypercalcemia (FHH), causing hypercalcemia with high normal or elevated parathyroid hormone levels. The CASR may also influence electrolyte and water homeostasis. It is unknown whether FHH affects cardiovascular health. We, therefore investigated whether FHH is associated with changes in the regulation of the cardiovascular system by measuring 24-h blood pressure (BP), arterial stiffness and vasoactive hormones. Design Cross-sectional study comparing 50 patients with FHH to age- and gender-matched controls. Results Studied subjects (69% women) had a mean age of 56years. A similar number of patients and controls (33%) were on treatment with antihypertensive drugs. Overall, no differences were found between groups in 24-h ambulatory BP or pulse wave velocity. However, compared with controls, diastolic BP during nighttime was lower in FHH females (60±5 vs 66±9mmHg, P<0.01) and higher in FHH males (69±6 vs 64±5mmHg, P=0.02). FHH was associated with a significantly higher plasma osmolality (P<0.01), higher plasma levels of vasopressin (P<0.01) and a higher renal excretion of epithelial sodium channels (ENaCs) (P=0.03), whereas urine aquaporin-2 and plasma sodium, aldosterone and renin did not differ between groups. FHH patients had a lower urinary volume with an increased osmolality if analyses were restricted to those not on treatments with antihypertensive drugs. ConclusionsFHH does not seem to be associated with an increased risk of CVD.

scholarly journals Increased modifiable cardiovascular risk factors in patients with Takayasu arteritis: a multicenter cross-sectional study

2021 ◽  
Vol 61 (1) ◽  
Author(s):  
Alexandre Moura dos Santos ◽  
Rafael Giovani Misse ◽  
Isabela Bruna Pires Borges ◽  
Bruno Gualano ◽  
Alexandre Wagner Silva de Souza ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Muscle Strength ◽  
Aerobic Capacity ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Metabolic Equivalent ◽  
Handgrip Test

Abstract Background Modifiable cardiovascular risk factors (MCRFs), such as those related to aerobic capacity, muscle strength, physical activity, and body composition, have been poorly studied in Takayasu arteritis (TAK). Therefore, the aim of the study was to investigate MCRFs and their relationships with disease status and comorbidities among patients with TAK. Methods A multicenter cross-sectional study was conducted between 2019 and 2020, in which 20 adult women with TAK were compared with 16 healthy controls matched by gender, age, and body mass index. The following parameters were analyzed: aerobic capacity by cardiopulmonary test; muscle function by timed-stands test, timed up-and-go test, and handgrip test; muscle strength by one-repetition maximum test and handgrip test; body composition by densitometry; physical activity and metabolic equivalent by IPAQ, quality of life by HAQ and SF-36; disease activity by ITAS2010 and NIH score; and presence of comorbidities. Results Patients with TAK had a mean age of 41.5 (38.0–46.3) years, disease duration of 16.0 (9.5–20.0) years, and a mean BMI of 27.7±4.5 kg/m2. Three out of the 20 patients with TAK had active disease. Regarding comorbidities, 16 patients had systemic arterial hypertension, 11 had dyslipidemia, and two had type 2 diabetes mellitus, while the control group had no comorbidities. TAK had a significant reduction in aerobic capacity (absolute and relative VO2 peak), muscle strength in the lower limbs, increased visceral adipose tissue, waist-to-hip ratio, reduced walking capacity, decreased weekly metabolic equivalent, and quality of life (P< 0.05) as compared to controls. However, there were no correlations between these MCRFs parameters and disease activity. Conclusions TAK show impairment in MCRFs; therefore, strategies able to improve MCRF should be considered in this disease.

scholarly journals Urinary incontinence related to perineal muscle strength in the first trimester of pregnancy: cross-sectional study

2014 ◽  
Vol 48 (spe) ◽  
pp. 32-38 ◽  
Author(s):  
Maria Luiza Gonzalez Riesco ◽  
Karina Fernandes-Trevisan ◽  
Nathalie Leister ◽  
Camila da Silva Cruz ◽  
Adriana de Souza Caroci ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscle Strength ◽  
Pelvic Floor Muscle ◽  
First Trimester ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Pelvic Floor Muscle Strength ◽  
First Trimester Of Pregnancy

Objective To analyze pelvic floor muscle strength (PFMS), urinary continence and quality of life related to urinary incontinence (UI) of women in the first trimester of pregnancy. Method Cross-sectional study with a sample of 500 women who started prenatal care in a complementary healthcare facility in Guarulhos, state of São Paulo, from 2012 and 2013. Pelvic floor muscle strength was evaluated through perineometry. The pregnant women who presented UI answered the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF). Results It was found that maternal age (OR=1.06; CI95% 1.02-1.11) and prior UI (OR=15.12; 95%CI 8.19-27.92) are the variables that, in tandem, best explain the occurrence of UI at the beginning of pregnancy. The mean score on the ICIQ-SF was 8.2 (SD=3.9), considered a moderate impact on quality of life. Conclusion Older pregnant women with prior UI are more likely to have UI in the first trimester of pregnancy.


scholarly journals R990G Polymorphism of Calcium Sensing Receptor Gene Is Associated with High Parathyroid Hormone Levels in Subjects with Vitamin D Deficiency: A Cross-Sectional Study

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Hafsa Majid ◽  
Aysha Habib Khan ◽  
Tariq Moatter
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Vitamin D Deficiency ◽  
Serum Calcium ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Calcium Sensing Receptor ◽  
Cross Sectional ◽  
Calcium Sensing ◽  
Vitamin D Levels

Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in subjects with optimal vitamin D levels. This cross-sectional study was conducted in subjects with vitamin D deficiency (VDD) to observe associations between CaSR polymorphisms, plasma iPTH, and serum calcium levels. Adult females (n=140) with known VDD, intact parathyroid hormone (iPTH), and calcium levels were recruited for genotype analysis. The frequencies of the 986 alleles GG, GT, and TT were 68%, 25%, and 7%, respectively, whereas the frequencies of the 990 alleles AA, AG, and GG were 80%, 8.9%, and 11.1%, respectively. The subjects with GG genotype of R990G polymorphism had higher iPTH levels (148.65 versus 91.47 and 86.1 pg/mL for GG versus AA, AG, resp.,P= 0.008 ) and lower calcium levels (8.4 versus 9.04 and 9.07 mg/dL for GG versus AA, AG, resp.,P= 0.002). No such association of A986S polymorphism with plasma iPTH or serum calcium levels was observed in the present study. Patients with VDD bearing the GG genotype of R990G SNPs are prone to have higher iPTH levels and lower calcium.

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