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 ◽  
...  

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.

2013 ◽  
Vol 169 (3) ◽  
pp. 349-357 ◽  
Author(s):  
Niels Frederik Breum Jakobsen ◽  
Lars Rolighed ◽  
Peter H Nissen ◽  
Leif Mosekilde ◽  
Lars Rejnmark

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.


2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Hafsa Majid ◽  
Aysha Habib Khan ◽  
Tariq Moatter

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.


Thorax ◽  
2020 ◽  
Vol 75 (12) ◽  
pp. 1089-1094 ◽  
Author(s):  
Adrian Shields ◽  
Sian E Faustini ◽  
Marisol Perez-Toledo ◽  
Sian Jossi ◽  
Erin Aldera ◽  
...  

ObjectiveTo determine the rates of asymptomatic viral carriage and seroprevalence of SARS-CoV-2 antibodies in healthcare workers.DesignA cross-sectional study of asymptomatic healthcare workers undertaken on 24/25 April 2020.SettingUniversity Hospitals Birmingham NHS Foundation Trust (UHBFT), UK.Participants545 asymptomatic healthcare workers were recruited while at work. Participants were invited to participate via the UHBFT social media. Exclusion criteria included current symptoms consistent with COVID-19. No potential participants were excluded.InterventionParticipants volunteered a nasopharyngeal swab and a venous blood sample that were tested for SARS-CoV-2 RNA and anti-SARS-CoV-2 spike glycoprotein antibodies, respectively. Results were interpreted in the context of prior illnesses and the hospital departments in which participants worked.Main outcome measureProportion of participants demonstrating infection and positive SARS-CoV-2 serology.ResultsThe point prevalence of SARS-CoV-2 viral carriage was 2.4% (n=13/545). The overall seroprevalence of SARS-CoV-2 antibodies was 24.4% (n=126/516). Participants who reported prior symptomatic illness had higher seroprevalence (37.5% vs 17.1%, χ2=21.1034, p<0.0001) and quantitatively greater antibody responses than those who had remained asymptomatic. Seroprevalence was greatest among those working in housekeeping (34.5%), acute medicine (33.3%) and general internal medicine (30.3%), with lower rates observed in participants working in intensive care (14.8%). BAME (Black, Asian and minority ethnic) ethnicity was associated with a significantly increased risk of seropositivity (OR: 1.92, 95% CI 1.14 to 3.23, p=0.01). Working on the intensive care unit was associated with a significantly lower risk of seropositivity compared with working in other areas of the hospital (OR: 0.28, 95% CI 0.09 to 0.78, p=0.02).Conclusions and relevanceWe identify differences in the occupational risk of exposure to SARS-CoV-2 between hospital departments and confirm asymptomatic seroconversion occurs in healthcare workers. Further investigation of these observations is required to inform future infection control and occupational health practices.


BMJ Open ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. e049967
Author(s):  
Karen Sól Saevarsdóttir ◽  
Hildur Ýr Hilmarsdóttir ◽  
Ingibjörg Magnúsdóttir ◽  
Arna Hauksdóttir ◽  
Edda Bjork Thordardottir ◽  
...  

ObjectiveTo test if patients recovering from COVID-19 are at increased risk of mental morbidities and to what extent such risk is exacerbated by illness severity.DesignPopulation-based cross-sectional study.SettingIceland.ParticipantsA total of 22 861 individuals were recruited through invitations to existing nationwide cohorts and a social media campaign from 24 April to 22 July 2020, of which 373 were patients recovering from COVID-19.Main outcome measuresSymptoms of depression (Patient Health Questionnaire), anxiety (General Anxiety Disorder Scale) and posttraumatic stress disorder (PTSD; modified Primary Care PTSD Screen for DSM-5) above screening thresholds. Adjusting for multiple covariates and comorbidities, multivariable Poisson regression was used to assess the association between COVID-19 severity and mental morbidities.ResultsCompared with individuals without a diagnosis of COVID-19, patients recovering from COVID-19 had increased risk of depression (22.1% vs 16.2%; adjusted relative risk (aRR) 1.48, 95% CI 1.20 to 1.82) and PTSD (19.5% vs 15.6%; aRR 1.38, 95% CI 1.09 to 1.75) but not anxiety (13.1% vs 11.3%; aRR 1.24, 95% CI 0.93 to 1.64). Elevated relative risks were limited to patients recovering from COVID-19 that were 40 years or older and were particularly high among individuals with university education. Among patients recovering from COVID-19, symptoms of depression were particularly common among those in the highest, compared with the lowest tertile of influenza-like symptom burden (47.1% vs 5.8%; aRR 6.42, 95% CI 2.77 to 14.87), among patients confined to bed for 7 days or longer compared with those never confined to bed (33.3% vs 10.9%; aRR 3.67, 95% CI 1.97 to 6.86) and among patients hospitalised for COVID-19 compared with those never admitted to hospital (48.1% vs 19.9%; aRR 2.72, 95% CI 1.67 to 4.44).ConclusionsSevere disease course is associated with increased risk of depression and PTSD among patients recovering from COVID-19.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Julien Fakhoury ◽  
Claudine Burton-Jeangros ◽  
Liala Consoli ◽  
Aline Duvoisin ◽  
Delphine Courvoisier ◽  
...  

Abstract Background Undocumented migrants live and work in precarious conditions. Few studies have explored the mental health consequences of such environment. The objective of this study is to describe the mental health of migrants at different stages of a regularization program. Methods This cross-sectional study included migrants undocumented or in the process of regularization. We screened for symptoms of anxiety, depression and sleep disturbance using validated tools. We created a composite outcome of altered mental health including these components plus self-report of a recent diagnosis of mental health condition by a health professional. Results We enrolled 456 participants of whom 246 (53.9%) were undocumented. They were predominantly women (71.9%) with a median age of 43.3 (interquartile range: 15.5) years, from Latin America (63.6%) or Asia (20.2%) who had lived in Switzerland for 12 (IQR: 7) years. Overall, 57.2% presented symptoms of altered mental health. Prevalence of symptoms of anxiety, depression and sleep disturbance were 36% (95% confidence interval: 31.6–40.6%), 45.4% (95% CI: 40.8–50.1%) and 23% (95% CI: 19.2–27.2), respectively. Younger age (adjusted odd ratio: 0.7; 95% CI: 0.5–0.9 for each additional decade), social isolation (aOR: 2.4; 95% CI: 1.4–4.2), exposure to abuse (aOR: 1.9; 95% CI: 1.1–3.5), financial instability (aOR: 2.2; 95% CI: 1.4–3.7) and multi-morbidity (aOR: 3.2; 95% CI: 1.7–6.5) were associated with increased risk of having altered mental health while being in the early stages of the process of regularization had no effect (aOR: 1.3: 95% CI: 0.8–2.2). Conclusions This study highlights the need for multi-pronged social and health interventions addressing the various domains of undocumented migrants living difficulties as complement to legal status regularization policies. Protection against unfair working conditions and abuse, access to adequate housing, promoting social integration and preventive interventions to tackle the early occurrence of chronic diseases may all contribute to reduce the burden of altered mental health in this group. More research is needed to assess the long-term impact of legal status regularization on mental health.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 921.2-922
Author(s):  
M. Yasmine ◽  
K. Maatallah ◽  
H. Ferjani ◽  
W. Triki ◽  
D. Ben Nsib ◽  
...  

Background:The treatment of patients presenting with cervicogenic dizziness (CGD) may be challenging. Indeed, there is no consensual treatment approach for CGD, nor is there no gold-standard assessment for diagnosis.Objectives:Our study aimed to assess the management of CGD by rheumatologists versus otorhinolaryngologists.Methods:We conducted a cross-sectional study including Tunisian doctors dealing with CGD. Rheumatologists (RTO) and otorhinolaryngologists (ORL) were invited to answer a questionnaire via google form about CGD daily management. Outcomes of interest were treatment modalities.Results:The study included 30 RTO and 32 ORL. Most of the doctors (RTO, vs ORL) were females (88.3%, vs 56.3%), aged between 35 and 45 (43.3%, vs 62.5%), and worked at a private practice (33.3%, vs 59.4%). The number of patients diagnosed with CGD by RTO was as follows: 1-2 per year (33.3%), 1-2 per month (18.8%), 1-2 per week (20%), less than one patient a year (10%) and none in 3.3% of cases. The number of patients diagnosed with CGD by ORL was as follows: 1-2 per year (50%), 1-2 per month (33.3%), 1-2 per week (6.2%), less than one patient a year (15.7%) and none (9.4%). Most patients presenting with CGD were females in both groups (93.1%, vs 82.8% respectively) with a mean age between 36 and 65 (79.3%, vs 82.1%). Most of the respondents declared treating patients with CGD (93.1%, vs 79.1%). Regarding treatment modalities, physical therapy was the most prescribed in both specialties (81.5% and 48.3%, respectively). Only RTO (18.5%) prescribed manual therapy. Concerning medical treatment, anti-inflammatory were the most prescribed drugs in both groups (92.6, and 34.5%, respectively). Sixty-seven percent of RTO prescribed anti-vertigo medication. Interestingly, it was the least prescribed drug by ORL (6.9%). Only RTO (59.3%) prescribed Muscle relaxants.Conclusion:Despite the disparities in the management of CGD, physical therapy remains the first prescribed treatment by Tunisian doctors. Further studies are needed to establish a consensus to treat CGD.Disclosure of Interests:None declared


Author(s):  
Joong Seob Lee ◽  
Tae Jun Kim ◽  
Sung Kwang Hong ◽  
Chanyang Min ◽  
Dae Myoung Yoo ◽  
...  

This cross-sectional study aimed to investigate the association between hyperuricemia and the frequency of coffee, tea, and soft drink consumption, based on data from the Korean Genome and Epidemiology Study (KoGES) (2004–2016). We used the KoGES health examinee data, obtained from urban residents aged ≥ 40 years. Information on the participants’ medical history, nutrition (total calorie, protein, fat, and carbohydrate intake), frequency of alcohol consumption, smoking status, household income, and frequency of coffee/green tea/soft drink intake was collected. A logistic regression model was used to analyze the data. Subgroup analyses were performed according to the participant’s age and sex. Among 173,209 participants, there were 11,750 and 156,002 individuals with hyperuricemia and non-hyperuricemia controls, respectively. In an adjusted model, frequent coffee and green tea consumption did not increase the risk of hyperuricemia, compared to the “no intake” reference group. However, an adjusted odds ratio of hyperuricemia was 1.23 (95% confidence interval, 1.11–1.35, p < 0.001) for participants who reported consuming soft drinks ≥ 3 times per day, compared to the respective “no drink” reference group. Even after adjusting for nutritional and sociodemographic factors, frequent soft drink intake was associated with an increased risk of hyperuricemia. Meanwhile, neither coffee nor green tea intake was associated with an increased risk of hyperuricemia.


2021 ◽  
pp. 1-7
Author(s):  
Amélie Gabet ◽  
Clémence Grave ◽  
Edouard Chatignoux ◽  
Philippe Tuppin ◽  
Yannick Béjot ◽  
...  

<b><i>Introduction:</i></b> COVID-19 was found to be associated with an increased risk of stroke. This study aimed to compare characteristics, management, and outcomes of hospitalized stroke patients with or without a hospital diagnosis of CO­VID-19 at a nationwide scale. <b><i>Methods:</i></b> This is a cross-sectional study on all French hospitals covering the entire French population using the French national hospital discharge databases (<i>Programme de Médicalisation des Systèmes d’Information</i>, included in the <i>Système National des Données de Santé</i>). All patients hospitalized for stroke between 1 January and 14 June 2020 in France were selected. A diagnosis of COVID-19 was searched for during the index hospitalization for stroke or in a prior hospitalization that had occurred after 1 January 2020. <b><i>Results:</i></b> Among the 56,195 patients hospitalized for stroke, 800 (1.4%) had a concomitant COVID-19 diagnosis. Inhospital case-fatality rates were higher in stroke patients with COVID-19, particularly for patients with a primary diagnosis of COVID-19 (33.2%), as compared to patients hospitalized for stroke without CO­VID-19 diagnosis (14.1%). Similar findings were observed for 3-month case-fatality rates adjusted for age and sex that reached 41.7% in patients hospitalized for stroke with a concomitant primary diagnosis of COVID-19 versus 20.0% in strokes without COVID-19. <b><i>Conclusion:</i></b> Patients hospitalized for stroke with a concomitant COVID-19 diagnosis had a higher inhospital and 3 months case-fatality rates compared to patients hospitalized for stroke without a COVID-19 diagnosis. Further research is needed to better understand the excess of mortality related to these cases.


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