The latest medical research on Metabolic Syndrome

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about metabolic syndrome gathered by our medical AI research bot.

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High AMH levels are associated with gestational hypertension in patients with PCOS who underwent IVF/ICSI-ET.

Clinical Endocrinology

Patients with polycystic ovary syndrome (PCOS) have a higher risk of obstetric complications. The association between anti-Müllerian hormone (AMH) and gestational hypertension in these patients is poorly understood.

To determine the association between serum AMH levels and gestational hypertension in patients with PCOS undergoing fresh embryo transfer.

This retrospective study included 649 patients with PCOS who had singleton live births after undergoing fresh embryo transfers. The association of AMH with gestational hypertension in these patients was estimated before and after propensity score matching (PSM).

Patients with gestational hypertension had higher AMH levels than those without gestational hypertension. In single-factor logistic regression, the odds of gestational hypertension increased by 11.7% and 18.6% for every 1 ng/mL increase in AMH before and after adjusting for confounding factors [OR 1.117, 95% CI(1.025, 1.217), P = 0.012; adjusted OR 1.186, 95% CI(1.061, 1.327), adjusted P = 0.003], respectively. The odds of gestational hypertension increased more than 100% [adjusted OR 2.635, 95% CI(1.132, 6.137), adjusted P = 0.025] in the 75th percentile group (>9.30 ng/ml) and more than thrice [adjusted OR 4.75, 95% CI(1.672, 13.495), adjusted P = 0.003] in the 90th percentile group (>12.31 ng/ml) as compared to the without-gestational hypertension group. AMH level was still associated with gestational hypertension after PSM. The area under the curve of AMH predicting gestational hypertension was 0.654 [95% CI (0.532, 0.776), P = 0.011] with an optimal cutoff value of 11.975 ng/mL.

High serum AMH level pre-pregnancy (especially at levels > 9.30 ng/mL) indicates a high odds of gestational hypertension in patients with PCOS undergoing fresh embryo transfer.

Estimation of glucose absorption, insulin sensitivity, and glucose effectiveness from the oral glucose tolerance test.

Clinical Endocrinology

Glucose tolerance during an oral glucose tolerance test (OGTT) is affected by variations in glucose effectiveness (GE) and glucose absorption and thus affects minimal model calculations of insulin sensitivity (SI). The widely used OGTT SI by Dalla Man et al. does not account for variances in GE and glucose absorption.

To develop a novel model that concurrently assesses SI, GE, and glucose absorption.

All subjects underwent 75-gram 120-minute 6-timepoint OGTT.

In controls and diabetes, the novel model SI was higher than the current OGTT model. SI from both controls (ƿ=0.90, p < 0.001) and diabetes (ƿ=0.77, p < 0.001) has high agreement between models. GE was higher in diabetes (median:0.021 1/min, IQR [interquartile range]: 0.020-0.022) compared to controls (median:0.016 1/min, IQR: 0.015-0.017), p = 0.02. GIGt1/2 was shorter in diabetes (median: 48.404 min, IQR: 54.424-39.426) than in controls (median: 55.086 min, IQR: 61.368-48.502) without statistical difference.

Our novel model SI has a good correlation with SI from the widely used Dalla Man's model while concurrently calculating GE and GIGt1/2. Thus, besides estimating SI, our novel model can quantify differences in insulin-independent glucose disposal mechanisms important for diabetes pathophysiology.

Titration of sedentary behavior with varying physical activity levels reduces mortality in patients with type 2 diabetes.

Clinical Endocrinology

Both physical activity (PA) and sedentary behavior (SB) exert important impact on type 2 diabetes, but it remains unclear how maximum impact on improving the mortality and optimized proportion of the two lifestyles combination exists.

To explore the impacts of PA/SB combinations on mortality in patients with diabetes.

Patients with type 2 diabetes patients samplings were collected from the National Health and Nutrition Examination Survey (NHANES) dataset. Their lifestyles were categorized into eight groups based on combinations of the PA and SB levels. Cox proportional hazards models were used to calculate hazard ratios and 95% confidence intervals.

During the follow-up period, 1,148 deaths (18.94%) were recorded. High SB (sedentary time ≥6 hours/day) was significantly associated with higher all-cause mortality (HR 1.65). In participants with low SB (<6 hours/day), low PA was associated with lower all-cause mortality (HR 0.43), while further increase of PA level did not show further reduction in either all-cause or cardiovascular mortality. In contrast, in participants with high SB,all levels of PA were associated with lower all-cause mortality (p<0.05), but only moderate PA was associated with lower cardiovascular mortality (HR 0.30).

In patients with type 2 diabetes, different combinations of various levels of PA and SB are associated with different degree of risk for all-cause or cardiovascular mortality.

Contrasting bone profiles in PCOS are related to BMI: a systematic review and meta-analysis.

Clinical Endocrinology

Controversial results have emerged regarding whether PCOS is protective or increases the risk of bone frailty.

This study investigated whether the PCOS condition affects bone parameters of premenopausal women. This is an update for a previous meta-analysis published in 2019.

Data were extracted by two independent reviewers.

We identified 31 studies that met the inclusion criteria for qualitative analysis from 3322 studies in the whole period (1990-2023). Overall, cross-sectional studies included 1822 individuals with PCOS and 1374 controls, while cohort studies incorporated 30305 women with PCOS and 101907 controls. Contrasting profiles emerged after stratification using a BMI cutoff of 27 kg/m2. Individuals with PCOS and a BMI <27 kg/m2 exhibited lower vertebral and non-vertebral bone density, reduced bone turnover marker (osteocalcin), and increased bone resorption marker (CTX) levels. Conversely, individuals with PCOS and a BMI >27 kg/m2 exhibited increased vertebral and non-vertebral BMD, with no significant changes in bone formation and resorption markers (except osteocalcin).

The findings of this study alert for a low bone mass, low bone formation, and increased bone resorption PCOS with a BMI <27 kg/m2.

Skeletal impact of parathyroidectomy on patients with primary hyperparathyroidism: a Systematic review and Meta-analysis.

Clinical Endocrinology

Parathyroidectomy is recommended for curing primary hyperparathyroidism (PHPT), although uncertainty remains regarding the extent of fracture risk reduction following surgery.

To compare fracture risk and bone mineral density (BMD) changes in patients with PHPT undergoing parathyroidectomy (PTX) versus observation (OBS).

Following Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines by two independent reviewers.

In 238,188 PHPT patients (PTX: 73,778 vs. OBS: 164,410), parathyroidectomy significantly reduced fractures at any site (RR, 0.80; 95%CI, 0.74-0.86) compared to observation. In 237,217 patients (PTX: 73,458 vs. OBS: 163,759), the risk of hip fractures decreased (RR, 0.63; 95%CI, 0.52-0.76). No reduction in forearm and vertebral fractures was observed in 3,574 and 3,795 patients, respectively. The annual percentage BMD changes from baseline were higher in the PTX group: femoral neck, 1.91% (95%CI, 1.14-2.68); hip, 1.75% (95%CI, 0.58-2.92); radius, 1.75% (95%CI, 0.31-3.18); spine, 2.13% (95%CI, 1.16-3.10).

Parathyroidectomy significantly reduced overall and hip fracture risks in PHPT patients. Despite minimal BMD increase, the substantial decrease in fracture risk suggests additional benefits of PTX beyond mineral content enhancement.

Coexisting RET/PTC and TERT Promoter Mutation Predict Poor Prognosis but Effective RET and MEK Targets in Thyroid Cancer.

Clinical Endocrinology

To investigate the role of coexisting RET/PTC rearrangement and TERT promoter mutation in the prognosis and therapeutic targeting in papillary thyroid cancer (PTC).

A total of 669 PTC patients with complete clinical follow-up and genetic data were pooled from thyroid cancer datasets TCGA, MSK MetTropism, and MSK-IMPACT, from whom 163 patients (112 women and 47 men, 4 unknown) with wild-type BRAF/RAS were identified, with median age (IQR) of 46.00 (33.00, 61.00) years and median follow-up time (IQR) of 16.13 (8.09, 27.91) months for comparative genotype cohort analysis of mortality.

There was a significant concurrence index between RET/PTC and TERT promoter mutations, being 2.040 (95% CI 1.110-3.747, P = 0.023). Mortality occurred in 5/100 (5%) patients harboring neither mutation, 2/18 (11.1%) patients harboring TERT promoter mutation alone, 0/31 (0%) patients harboring RET/PTC alone, and 7/14 (50%) patients harboring both genetic alterations, corresponding to HRs (95% CI) of 1 (Reference), 2.469 (0.405-14.02), 3.296e-09 (0-inf), and 9.019 (2.635-30.87), respectively, which remained essentially unchanged after adjustment for patient race, sex, and age. Similar results were observed with BRAF/RAS and TERT promoter mutations. Mechanistically, RET/PTC used the MAP kinase pathway to upregulate the mutated TERT, but not the wild-type TERT, and, correspondingly, targeting RET and MEK could suppress mutated TERT but not the wild-type TERT.

Coexisting RET/PTC and TERT promoter mutation identify PTC as a unique clinical entity with high mortality, providing new implications for genetic-based prognostication and potential therapeutic targeting of RET and MEK guided by RET/PTC and TERT status.

Identification of rare and novel PHEX variants in X-linked hypophosphatemia.

Clinical Endocrinology

X-linked hypophosphatemia (XLH) is a rare metabolic bone disease caused by inactivation mutations in the PHEX gene. Despite the extensive number of reported PHEX variants, only a few cases of chromosomal abnormalities have been documented.

We aimed to identify the pathogenic variants in six unrelated families with a clinical diagnosis of XLH and to propose a genetic workflow for hypophosphatemia patients suspected of XLH.

Multiple genetic testing assays were used to analyze the six families' genetic profiles, including whole exome sequencing, multiplex ligation-dependent probe amplification, whole genome sequencing, reverse transcript polymerase chain reaction, Sanger sequencing, and karyotyping.

The study identified six novel pathogenic variants, including one mosaic variant (exon 16-22 deletion), three chromosomal abnormalities (46, XN, inv[X][pter→p22.11::q21.31→p22.11::q21.31 →qter], 46, XN, inv[X][p22.11p22.11], and XXY), a nonclassical intron variant (NM_000444.6, c.1701_31A > G), and a deletion variant (NM_000444.6, c.64_5464-186 del5215) of PHEX. Additionally, a genetic testing workflow was proposed to aid in diagnosing patients suspected of XLH.

Our research expands the mutation spectrum of PHEX and highlights the significance of utilizing multiple genetic testing methods to diagnose XLH.

Endogenous estrogen exposure and hypertension risk; a population-based cohort study with about two decades of follow-up.

Clinical Endocrinology

The impact of endogenous estrogen exposure (EEE) on hypertension (HTN) incidence has not been investigated yet.

This study aimed to evaluate HTN incidence in women with different endogenous estrogen durations.

Information was gathered from the Tehran Lipid and Glucose Study (TLGS) to conduct current research. At the initiation of the study, 4463 post-menarche normotensive women, including 3599 premenopausal and 864 menopausal women, were included. EEE was calculated for each woman, and they were followed up for the HTN event. According to the EEE, the hazard ratios and 95% confidence intervals (CI) for the HTN event were presented using Cox proportional hazards regression models (unadjusted and adjusted).

The median (interquartile range) of follow-up (between menarche and the date of HTN incidence or last follow-up) was 33.2(25.1, 42.3) years. The event of menopause occurred in 31.8% of participants. The unadjusted model's findings illustrated that the EEE z-score was inversely associated with HTN incidence in post-menarcheal women [unadjusted hazard ratio (HR) 0.47, 95% CI 0.44, 0.50], meaning that the risk of HTN decreased by 53% for every 1-SD rise in the EEE z-score. After adjusting for potential confounders, the results showed no statistically significant changes (adjusted HR 0.46, 95% CI 0.43-0.49). In participants with prehypertension at baseline, the hazard of HTN decreased by 56% per 1-SD rise in the EEE z-score.

This longitudinal study demonstrated the protective effect of a longer EEE duration on HTN risk, even among those with prehypertension status.

European Society of Endocrinology and Endocrine Society Joint Clinical Guideline: Diagnosis and Therapy of Glucocorticoid-induced Adrenal Insufficiency.

Clinical Endocrinology

Glucocorticoids are widely prescribed as anti-inflammatory and immunosuppressive agents. This results in at least 1% of the population using chroni...

Testosterone therapy does not affect coagulation in male hypogonadism: a longitudinal study based on thrombin generation.

Clinical Endocrinology

Testosterone therapy has been variably associated with increased thrombotic risk but investigations of global coagulation in this setting are lacking.

To compare global coagulation of hypogonadal men before (T0) and 6 months after (T1) starting testosterone replacement therapy (TRT), and healthy controls.

The following TGA parameters were recorded: lag-time; thrombin-peak concentration; time-to-reach the peak, velocity index and endogenous thrombin potential (ETP), the latter representing the total amount of thrombin generated under the driving forces of procoagulants opposed by the anticoagulants. PC, antithrombin, factor (F)VIII, and fibrinogen were assessed.

No changes of TGA parameters were observed between T0 and T1. Hypogonadal men displayed significantly higher ETP, fibrinogen, and significantly lower antithrombin levels both at T0 and T1 compared to controls. Thrombin-peak of hypogonadal men was significantly higher than controls at T0 but not at T1. ETP and antithrombin were correlated with testosterone levels.

Hypogonadal men display a procoagulant imbalance detected by increased thrombin generation. Short-term TRT does not worsen global coagulation, suggesting that the treatment can be safely prescribed to men diagnosed with hypogonadism.

Moderate associations between the use of levonorgestrel-releasing intrauterine device and metabolomics profile.

Clinical Endocrinology

Use of levonorgestrel-releasing intrauterine device (LNG-IUD) has become common irrespective of age and parity. To date, only a few studies have examined its possible metabolic changes and large-scale biomarker profiles in detail and in a longitudinal design.

To apply the metabolomics technique to examine the metabolic profile associated with the use of LNG-IUD both in a cross-sectional and in a longitudinal design.

The study consists of cross-sectional and longitudinal analyses of a population-based survey (Health 2000) and its 11-year follow-up (Health 2011). All participants aged 18-49 years with available information on hormonal contraceptive use and metabolomics data (n=1767) were included. Altogether 212 metabolic measures in LNG-IUD users (n=341) were compared to those in non-users of hormonal contraception (n=1426) via multivariable linear regression models. Participants with complete longitudinal information (n=240) were divided into continuers, stoppers, starters, and never-user groups, and 11-year changes in levels of each metabolite were compared.

After adjustment for covariates, levels of 102 metabolites differed in LNG-IUD current users compared to non-users of hormonal contraception (median difference in biomarker concentration: -0.12 SD): lower levels of fatty acids concentrations and ratios, cholesterol, triglycerides and other lipids, as well as particle concentration, cholesterol, total lipids and phospholipids in lipoproteins. The 11-year metabolic changes did not differ in relation to changes in LNG-IUD use.

The use of LNG-IUD was associated with several moderate metabolic changes, mostly suggestive of a reduced arterial cardiometabolic risk. Changes in LNG-IUD use were not related to long-term metabolic changes.

Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.

Clinical Endocrinology

The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital Hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported.

We aimed to unveil the genetic etiology of CH in a large cohort of patients from Argentina.

We performed whole exome sequencing of 137 unrelated cases of CH, the largest cohort examined with this method to date.

Of the 137 cases, 19.1% and 16% carried pathogenic or likely pathogenic variants in known and new genes, respectively, while 28.2% carried variants of uncertain significance. This high yield was achieved through the integration of broad gene panels (genes described in animal models and/or other disorders), an unbiased candidate gene screen with a new bioinformatics pipeline (including genes high loss of function intolerance), and analysis of copy number variants. Three novel findings emerged. First, the most prevalent affected gene encodes the cell adhesion factor ROBO1. Affected children had a spectrum of phenotypes, consistent with a role beyond pituitary stalk interruption syndrome. Second, we found that CHD7 mutations also produce a phenotypic spectrum, not always associated with full CHARGE syndrome. Third, we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32, and report 13 novel candidate genes associated with CH (e.g. PTPN6, ARID5B).

Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.