scholarly journals The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

2018 ◽  
Vol 103 (5) ◽  
pp. 1834-1841 ◽  
Author(s):  
Safa Mujahid ◽  
Katharine F Hunt ◽  
Yee S Cheah ◽  
Elizabeth Forsythe ◽  
Jonathan M Hazlehurst ◽  
...  

Abstract Context Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. Objective We describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects. Design We performed a case-control study. Setting This study was performed at a hospital clinic. Patients Study patients had a clinical or genetic diagnosis of BBS. Main Outcome Measurements Our study determined the prevalence of a metabolic syndrome in our cohort. Results A total of 152 subjects were studied. Eighty-four (55.3%) were male. Mean (± standard deviation) age was 33.2 ± 1.0 years. Compared with age-, sex-, and body mass index–matched control subjects, fasting glucose and insulin levels were significantly higher in subjects with BBS (glucose: BBS, 5.2 ± 1.2 mmol/L vs control, 4.9 ± 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 ± 17.0 pmol/L vs control, 14.2 ± 14.8 pmol/L, P < 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 ± 1.2 mmol/L) compared with control subjects (1.3 ± 0.8 mmol/L; P < 0.001), but total cholesterol, high-density lipoprotein, and low-density lipoprotein were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS, 135 ± 18 mm Hg vs control subjects, 129 ± 16 mm Hg; P = 0.02). Alanine transaminase was raised in 34 (26.8%) subjects with BBS, compared with five (8.9%) control subjects (P = 0.01). The rate of metabolic syndrome, determined using International Diabetes Federation criteria, was significantly higher in the BBS group (54.3%) compared with control subjects (26% P < 0.001). Twenty-six (19.5%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 ± 5.3 mmol/L), but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24 of 125 (19.4%) patients with BBS, compared with 3 of 65 (4.6%) control subjects (P = 0.01). Conclusions Insulin resistance and the metabolic syndrome are increased in adult patients with BBS compared with matched control subjects. Increased subclinical hypothyroidism in the BBS cohort needs further investigation.

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Gang Huang ◽  
Junbo Xu ◽  
Tingjie Zhang ◽  
Lin Cai ◽  
Hanxiong Liu ◽  
...  

Abstract Hyperuricemia is a risk factor for cardiovascular metabolic diseases. However, in the very elderly, the relationship between hyperuricemia and the metabolic syndrome (MetS) is not yet clear. This study was aimed to investigate the potential association between hyperuricemia and MetS in community very elderly in Chengdu. In this cross-sectional study, 1056 very elderly in the community were enrolled. Serum uric acid (SUA), fast plasma glucose, triglycerides and high–density lipoprotein cholesterol were measured, and then MetS components were calculated. Logistic regression models were used to explore risk factors for MetS in the very elderly. Finally, 1035 participants were included in analysis whose ages ranged between 80 and 100 with a mean age of 83.6 ± 3.4 years. The mean SUA level was 356.2 ± 95.0 µmol/L. The estimated prevalence of MetS in the very elderly was 25.0% vs. 21.6% (international diabetes federation (IDF) criteria vs. Chinese guideline), which was significantly higher for women (IDF criteria:17.3% in men vs 33.6% in women, p < 0.001). Logistic regression has found that participants with hyperuricemia (SUA level > 416 µmol/L in men and > 357 µmol/L in women) had a higher risk (IDF criteria: odds ratio (OR): 2.136, 95% confidence interval(CI): 1.525–2.993, p < 0.001. Chinese guideline: OR: 1.769, 95%CI: 1.249–2.503, p = 0.001) of MetS in very elderly Chinese. MetS is common in the community of very elderly Chinese in Chengdu. Hyperuricemia is associated with MetS in general very elderly and lifestyle changing should also be considered in the very elderly.


Author(s):  
Kamila Bonifacio ◽  
Michael Maes ◽  
Carine de Farias ◽  
Andressa Matsumoto ◽  
Crisieli Tomereli ◽  
...  

Purpose: To investigate the alterations in nitro-oxidative stress (OS) and antioxidant status in adolescents with metabolic syndrome (MetS) and whether these alterations occur independently from effects of overweight or obesity.Methods: Blood was collected in 47 adolescents with MetS and 94 adolescents without MetS as assessed with the International Diabetes Federation criteria. The International Obesity Task Force (IOTF) criteria were used to classify the subjects into those with overweight or obesity. We measured nitro-oxidative biomarkers including nitric oxide metabolites (NOx), lipid hydroperoxides (LOOH), and malondialdehyde (MDA), and antioxidant biomarkers, i.e. total radical-trapping antioxidant parameter (TRAP), paraoxonase (PON)-1 activity, thiol (SH-) groups, as well as tumor necrosis factor-&alpha;, glucose, insulin, triglycerides, uric acid and high-density lipoprotein cholesterol (HDL-C).Results: Logistic regression analysis showed that increased MDA and NOx and a lowered TRAP/uric acid ratio were associated with MetS. Machine learning including soft independent modeling of class analogy (SIMCA) showed that the top-3 most important features of MetS were increased glucose and MDA and lowered HDL-C. Support vector machine using MDA, glucose, insulin, HDL-C, triglycerides and body mass index as input variables yielded a 10-fold cross-validated accuracy of 89.8% when discriminating MetS from controls. The association between MetS and increased MDA was independent from the effects of overweight-obesity. glucose, insulin, triglycerides and HDL-C.Conclusion: In adolescents, increased MDA formation is a key component of MetS, indicating that increased production of reactive oxygen species with consequent lipid peroxidation and aldehyde formation participate in the development of MetS.


2011 ◽  
Vol 3 (2) ◽  
pp. 122
Author(s):  
Meiriza Djohari ◽  
Mansyur Arif ◽  
Burhanuddin Bahar

BACKGROUND: Several researches reported that inflammatory and immunological mechanism such as autoantibody to β2-glycoprotein I (anti β2GPI) appear as related factors in initiation and progress of atherosclerosis lesion in patient with autoimmune disease. Antibody to β2GPI titers are correlated with atherosclerosis and in vitro studies showed that they enhance oxidized low density lipoprotein (ox-LDL) uptake by macrophages. Immunization with auto-antigen β2GPI elicits an immune response to influence lesion progression that mostly happens in autoimmune subjects. The metabolic syndrome (MetS) is combination of several metabolic disorders such as obesity, dyslipidemia, Diabetes Mellitus (DM) and conditions due to inflammation and stress oxidative. The Correlation between inflammatory markers such as High sensitivity C-Reactive Protein (hsCRP) and anti-β2GPI antibody in MetS needs to be further investigated.METHODS: This was an observational study with cross sectional design on subject with MetS as determined by the International Diabetes Federation (IDF) 2005’s criteria.RESULTS:There was a positive and significant correlation between hsCRP and anti-β2GPI antibody in MetS group (r=0.406; p≤0.05) as compared to non-MetS group. We found that there was elevated level of anti-β2GPI antibody in hsCRP of 3-10 mg/L.CONCLUSIONS: Anti-β2GPI antibody may be elevated in subjects with MetS who have low grade of inflammation as shown by hsCRP.KEYWORDS: metabolic syndrome, inflammation, autoantigen, atherosclerosis, obesity


2011 ◽  
Vol 119 (10) ◽  
pp. 599-603 ◽  
Author(s):  
J. Prinsloo ◽  
L. Malan ◽  
J. de Ridder ◽  
J. Potgieter ◽  
H. Steyn

AbstractVarious studies have shown that the relationship between waist circumference (WC) and abdominal obesity is age, gender as well as ethnicity-dependent. WC criteria for Sub Saharan Africans have not been defined by the International Diabetes Federation (IDF). The aim was to determine which WC cut off best predicted Metabolic Syndrome (MetS) in a group of urban African teachers (80 males and 93 females). We determined sphygmomanometer blood pressure, WC, glucose, high density lipoprotein cholesterol (HdL) and triglyceride (TRIG) values. The males′ MetS profile was less favourable as their glucose, TRIG and blood pressure levels were higher than the proposed cut off for MetS. The females could be classified as obese, based on their mean BMI (32.78±6.36) and WC (93.48±15.68). Receiver operating characteristic (ROC) WC cut offs of 90, 91, 94 and 96 cm for the respective MetS components in males (blood pressure, HdL, glucose and TRIG) were suggested. In the females, cut offs of 92, 98, 94 and 94 cm for TRIG, blood pressure, HdL and glucose respectively, were put forward. Odds ratios revealed that increased blood pressure best predicted ROC WC in both males (OR 9.59; 95% CI 3.14–29.32) and females (OR 3.11; 95% CI 1.30–7.42) irrespective of age. We suggest that the optimal cut off point for the males be set at 90 cm, as opposed to the current 94 cm; whilst the female cut off be set at 98 cm as opposed to the existing cut off of 80 cm. Larger sample groups are recommended to justify our data.


Author(s):  
James D. Yates ◽  
Jeffrey W. F. Aldous ◽  
Daniel P. Bailey ◽  
Angel M. Chater ◽  
Andrew C. S. Mitchell ◽  
...  

Hypertension and metabolic syndrome (METSYN) are reportedly high in police forces. This may contribute to health deterioration and absenteeism in police personnel. Police forces comprise of staff in ‘operational’ and ‘non-operational’ job types but it is not known if job type is associated to hypertension and METSYN prevalence. This study aimed to explore the prevalence of hypertension and METSYN, the factors associated with the risk of hypertension and METSYN, and compare physiological, psychological, and behavioural factors between operational and non-operational police personnel. Cross-sectional data was collected from 77 operational and 60 non-operational police workers. Hypertension and METSYN were prevalent in 60.5% and 20% of operational and 60.0% and 13.6% of non-operational police personnel, respectively (p > 0.05). Operational job type, moderate organisational stress (compared with low stress) and lower high-density lipoprotein cholesterol were associated with lower odds of hypertension, whereas increasing body mass index was associated with increased odds of hypertension (p < 0.05). None of the independent variables were significantly associated with the odds of METSYN. Operational police had several increased cardiometabolic risk markers compared with non-operational police. Given the high prevalence of hypertension and METSYN in operational and non-operational personnel, occupational health interventions are needed for the police and could be informed by the findings of this study.


2010 ◽  
Vol 162 (5) ◽  
pp. 919-923 ◽  
Author(s):  
Anna C Phillips ◽  
Douglas Carroll ◽  
Catharine R Gale ◽  
Janet M Lord ◽  
Wiebke Arlt ◽  
...  

ObjectivesThe aim of these analyses was to examine the association of cortisol, DHEAS and the cortisol:DHEAS ratio with the metabolic syndrome (MetS) and its components.DesignThe analyses were cross-sectional.MethodsParticipants were 4255 Vietnam era US army veterans. From military service files, telephone interviews and a medical examination, occupational, socio-demographic and health data were collected. MetS was ascertained from data on body mass index; fasting blood glucose or a diagnosis of diabetes; blood pressure or a diagnosis of hypertension; high-density lipoprotein cholesterol; and triglyceride levels. Contemporary morning fasted cortisol and DHEAS concentrations were determined. The outcomes were MetS and its components. Analysis was by logistic regression, first adjusting for age and then additionally for an array of candidate confounders.ResultsCortisol, although not in the fully adjusted analysis, and DHEAS were both related to MetS. Whereas high cortisol concentrations were associated with an increased risk of MetS, high DHEAS concentrations appeared protective. By far, the strongest associations with MetS were observed for the cortisol:DHEAS ratio; the higher the ratio, the greater the risk of having MetS. The ratio was also significantly related to four of the five MetS components.ConclusionsThe cortisol:DHEAS ratio is positively associated with MetS. Prospective analyses are needed to help untangle direction of causality, but this study suggests that the cortisol:DHEAS ratio is worthy of further study in this and other health contexts.


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 663
Author(s):  
Monique T. Ngo Njembe ◽  
Barbara Pachikian ◽  
Irina Lobysheva ◽  
Nancy Van Overstraeten ◽  
Louis Dejonghe ◽  
...  

Alpha-linolenic acid (ALA), docosahexaenoic acid (DHA), rumenic acid (RmA), and punicic acid (PunA) are claimed to influence several physiological functions including insulin sensitivity, lipid metabolism and inflammatory processes. In this double-blind randomized controlled trial, we investigated the combined effect of ALA, DHA, RmA and PunA on subjects at risk of developing metabolic syndrome. Twenty-four women and men were randomly assigned to two groups. Each day, they consumed two eggs enriched with oleic acid (control group) or enriched with ALA, DHA, RmA, and PunA (test group) for 3 months. The waist circumference decreased significantly (−3.17 cm; p < 0.001) in the test group. There were no major changes in plasma insulin and blood glucose in the two groups. The dietary treatments had no significant effect on endothelial function as measured by peripheral arterial tonometry, although erythrocyte nitrosylated hemoglobin concentrations tended to decrease. The high consumption of eggs induced significant elevations in plasma low-density lipoprotein (LDL)- and high-density lipoprotein (HDL)-cholesterol (p < 0.001), which did not result in any change in the LDL/HDL ratio in both groups. These results indicate that consumption of eggs enriched with ALA, DHA, RmA and PunA resulted in favorable changes in abdominal obesity without affecting other factors of the metabolic syndrome.


2021 ◽  
pp. 1-11
Author(s):  
Victor M. Oguoma ◽  
Neil T. Coffee ◽  
Saad Alsharrah ◽  
Mohamed Abu-Farha ◽  
Faisal H. Al-Refaei ◽  
...  

Abstract This study aimed to determine anthropometric cut-points for screening diabetes and the metabolic syndrome (MetS) in Arab and South Asian ethnic groups in Kuwait and to compare the prevalence of the MetS based on the ethnic-specific waist circumference (WC) cut-point and the International Diabetes Federation (IDF) and American Heart Association/National Heart, Lung, and Blood Institute WC criteria. The national population-based survey data set of diabetes and obesity in Kuwait adults aged 18–60 years was analysed. Age-adjusted logistic regression and receiver operating characteristic (ROC) analyses were conducted to evaluate for 3589 individuals the utility of WC, waist:height ratio (WHtR) and BMI to discriminate both diabetes and ≥3 CVD risk factors. Areas under the ROC curve were similar for WC, WHtR and BMI. In Arab men, WC, WHtR and BMI cut-offs for diabetes were 106 cm, 0·55 and 28 kg/m2 and for ≥3 CVD risk factors, 97 cm, 0·55 and 28 kg/m2, respectively. In Arab women, cut-offs for diabetes were 107 cm, 0·65 and 33 kg/m2 and for ≥3 CVD risk factors, 93 cm, 0·60 and 30 kg/m2, respectively. WC cut-offs were higher for South Asian women than men. IDF-based WC cut-offs corresponded to a higher prevalence of the MetS across sex and ethnic groups, compared with Kuwait-specific cut-offs. Any of the assessed anthropometric indices can be used in screening of diabetes and ≥3 CVD risk factors in Kuwaiti Arab and Asian populations. ROC values were similar. The WC threshold for screening the MetS in Kuwaiti Arabs and South Asians is higher for women.


2021 ◽  
pp. jrheum.210189
Author(s):  
Bahram Mohajer ◽  
Robert Kwee ◽  
Ali Guermazi ◽  
Francis Berenbaum ◽  
Mei Wan ◽  
...  

Objective To investigate the metabolic syndrome (MetS) association with radiographic and symptomatic hand osteoarthritis (OA). Methods Using 1:2 propensity-score-matching for relevant confounders, we included 2509 (MetS+896: MetS–1613) participants from the Osteoarthritis Initiative dataset. MetS and its components, according to the International Diabetes Federation criteria, were extracted from baseline data, including hypertension, abdominal obesity, dyslipidemia, and diabetes. We scored distinct hand joints based on modified Kellgren–Lawrence grade (mKL) of baseline radiographs, with OA defined as mKL≥2. In the cross-sectional analysis, we investigated the association between MetS and its components with radiographic hand OA and the presence of nodal and erosive OA phenotypes using regression models. In the longitudinal analysis, we performed Cox regression analysis for hand pain incidence in follow-up visits. Results MetS was associated with higher odds of radiographic hand OA, including the number of joints with OA (odds ratio, 95%confidence interval:1.32, 1.08–1.62), the sum of joints mKLs (2.42, 1.24–4.71), mainly in distal and proximal interphalangeal joints (DIPs:1.52, 1.08–2.14, PIPs:1.38, 1.09–1.75), but not metacarpophalangeal (MCP) and first carpometacarpal (CMC1) joints. Hand pain incidence during follow-up was higher with MetS presence (hazard ratio, 95%CI:1.25, 1.07–1.47). Erosive hand OA phenotype and joints' nodal involvement were more frequent with MetS (1.40, 1.01–1.97, and 1.28, 1.02–1.60). Conclusion MetS, a potentially modifiable risk factor, is associated with radiographic DIP and PIP OA and longitudinal hand pain incidence while sparing MCPs and CMC1. Nodal and erosive OA phenotypes are associated with MetS, suggestive of possible distinct pathophysiology.


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