Notes

Desmosomal Cadherins in Health insurance and Ailment.
and identified S100A6 as a possible biomarker and therapeutic target for PC and T2DM patients.
This study firstly revealed that the regulation of endodermal cell fate specification may be common pathogenesis of PC and T2DM and identified S100A6 as a possible biomarker and therapeutic target for PC and T2DM patients.
Exenatide has been demonstrated beneficial effects on patients with type 2 diabetes mellitus (T2DM) regarding lipid metabolism. However, the potential mechanism remains unclear. We used a lipidomic approach to evaluate lipid changes in response to treatment with exenatide in T2DM patients.

Serum lipidomic profiles of 35 newly diagnosed T2DM patients (before and after exenatide treatment) and 20 age-matched healthy controls were analyzed by ultrahigh-performance liquid chromatography-tandem quadrupole time-of-flight mass spectrometry.

A total of 45 lipid species including sphingomyelins (SMs), ceramides (CERs), lysophosphatidylcholines (LPCs), phosphatidylethanolamines (PEs), lysophosphatidylethanolamines (LPEs) and phosphatidylcholines (PCs) were identified in all participants. Compared to the healthy controls, 13 lipid species [SM (d181/180, d181/181), Cer (d181/180, d181/160, d181/200, d181/241), LPC (150, 160, 170), PC (190/190), LPE (180) and PE (160/226, 180/226)] were markedly increased in the T2DM group, while PE (170/170) and PC (181/180) were decreased (
< 0.05). The serum SM (d181/180, d181/181), LPC (160), and LPE (180) were significantly decreased after exenatide treatment, which was accompanied by the amelioration of lipids and glycemic parameters (TC, LDL-C, ApoA-I, FCP and HbA
) in T2DM patients. The chord diagrams showed distinct correlation patterns between lipid classes and subclasses among healthy controls, T2DM patients before and after exenatide treatment.

Our results revealed that the therapeutic benefits of exenatide on T2DM might be involved in the improved lipid metabolism, especially SM, LPC, and LPE.

ClinicalTrials.gov, identifier NCT03297879.
ClinicalTrials.gov, identifier NCT03297879.
The clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.

We established the Ukrainian DSD Register and identified 682 DSD patients. This cohort includes, 357 patients (52.3% [303 patients with Turner syndrome)] with sex chromosome DSD, 119 (17.5%) with 46,XY DSD and 206 (30.2%) with 46,XX DSD. Patients with sex chromosome DSD and congenital adrenal hyperplasia (CAH, n=185) were excluded from further studies. Fluorescence
hybridization (FISH) was performed for eight 46,XX boys. 79 patients underwent Whole Exome Sequencing (WES).

The majority of patients with 46,XY and 46,XX DSD (n=140), were raised as female (56.3% and 61.9% respectively). WES (n=79) identified pathogenic (P) or likely pathogenic (LP) variants in 43% of the cohort. P/LP variants were identified in the androgen receptor (
) and
genes (20.2%). Variants in other DSD genes including
and
were identified in 22.8% of cases. 83.3% of all P/LP variants are novel. 35.3% of patients with a genetic diagnosis had an atypical clinical presentation. A known pathogenic variant in
, which was reported to cause congenital hypogonadotropic hypogonadism (CHH), was identified in individuals with primary hypogonadism.

WES is a powerful tool to identify novel causal variants in patients with DSD, including a significant minority that have an atypical clinical presentation. Our data suggest that heterozygous variants in the
gene are unlikely to cause of CHH.
WES is a powerful tool to identify novel causal variants in patients with DSD, including a significant minority that have an atypical clinical presentation. Our data suggest that heterozygous variants in the WDR11 gene are unlikely to cause of CHH.Due to its high metabolic activity, brown adipose tissue (BAT) has become a promising target for the development of novel treatment concepts for metabolic disease. Despite several reports of a negative association between the presence of active BAT and obesity, very little is known about the quantitative and qualitative differences of BAT in lean and obese individuals. Systematic studies directly comparing cold-induced BAT activity in leanness and obesity are currently lacking. Here we studied BAT mass and function in 31 lean and 64 obese men and women. After a standardized cooling protocol using a water-perfused vest, 18F-FDG-positron emission tomography/computed tomography scans were performed, and BAT was delineated using lean body-mass adjusted standardized uptake value (SUV) thresholds in anatomic regions with fat radiodensity. Cold-induced thermogenesis (CIT), a functional readout of BAT activity, was quantified by indirect calorimetry. Active BAT was present in a significantly higher proportion of lean than obese individuals (58% vs. 33%, p=0.019). In these participants with active BAT, however, BAT volume and activity did not differ between leanness and obesity. Accordingly, CIT was similar in both weight groups. BAT metrics were not related to adiposity or total fat mass per se. However, in obese participants a strong negative correlation existed between visceral adipose tissue and BAT volume, 18F-FDG uptake and CIT. In summary, despite a significantly lower prevalence of BAT, the metabolic activity and thermogenic capacity of BAT appears to be still intact in obesity and is inversely associated with visceral fat mass.
The ongoing pandemic of COVID-19 is still affecting our life, but the effects of lockdown measures on gestational diabetes mellitus (GDM) in pregnant women remain unclear.

To investigate the association between COVID-19 lockdown and GDM.

Medical records of 140844 pregnant women during 2015-2020 were extracted from 5 hospitals in Guangdong Province, China. Pregnant women who underwent the COVID-19 Level I lockdown (1/23 - 2/24/2020) during pregnancy were defined as the exposed group (N=20472) and pregnant women who underwent the same calendar months during 2015-2019 (1/23 - 2/24) were defined as the unexposed group (N=120372). Subgroup analyses were used to explore the potential susceptible exposure window of COVID-19 lockdown on GDM. selleck Cumulative exposure is quantitatively estimated by assigning different weights to response periods with different exposure intensities. A logistic regression model was used to estimate the association between COVID-19 lockdown exposure and GDM.

The rates of GDM in the exposed and unexposed groups were 15.2% and 12.4%, respectively. The overall analyses showed positive associations (odds ratio, OR=1.22, 95%CI 1.17, 1.27) between lockdown exposure and GDM risk in all pregnant women. More pronounced associations were found in women who underwent the COVID-19 lockdown in their first four months of pregnancy, and the adjusted OR values ranged from 1.24 (95%CI 1.10, 1.39) in women with 5-8 gestational weeks (GWs) to 1.35 (95%CI 1.20, 1.52) with < 5 GWs. In addition, we found a positive exposure-response association of cumulative lockdown exposure with the risk of GDM.

The COVID-19 lockdown was associated with an increased risk of GDM, and the first four months of pregnancy may be the window for sensitive exposure.
The COVID-19 lockdown was associated with an increased risk of GDM, and the first four months of pregnancy may be the window for sensitive exposure.Diabetic kidney disease (DKD) is a long-term major microvascular complication of uncontrolled hyperglycemia and one of the leading causes of end-stage renal disease (ESDR). The pathogenesis of DKD has not been fully elucidated, and effective therapy to completely halt DKD progression to ESDR is lacking. This study aimed to identify critical molecular signatures and develop novel therapeutic targets for DKD. This study enrolled 10 datasets consisting of 93 renal samples from the National Center of Biotechnology Information (NCBI) Gene Expression Omnibus (GEO). Networkanalyst, Enrichr, STRING, and Cytoscape were used to conduct the differentially expressed genes (DEGs) analysis, pathway enrichment analysis, protein-protein interaction (PPI) network construction, and hub gene screening. The shared DEGs of type 1 diabetic kidney disease (T1DKD) and type 2 diabetic kidney disease (T2DKD) datasets were performed to identify the shared vital pathways and hub genes. Strepotozocin-induced Type 1 diabetes mellitus (T1Dtone bodies may represent a novel therapeutic strategy for DKD. These identified novel molecular signatures in DKD merit further clinical investigation.
Radiofrequency ablation (RFA) for benign thyroid nodules is one kind of scarless treatment for symptomatic or cosmetic benign thyroid nodules. However, how to train RFA-naive physicians to become qualified operators for thyroid RFA is an important issue. Our study aimed to introduce a successful training model of thyroid RFA.

We used a food-assisted and -simulated training model of thyroid RFA. Chicken hearts were simulated into thyroid nodules, three-layer pork meats were simulated into peri-thyroid structure, and gel bottles were simulated into trachea, respectively. Successful training ablations were defined as chicken hearts that were fully cooked. After repeating training ablations of chicken hearts at least 100 times with the nearly 100% success rates for three young trainees, they served as the first assistant for the real procedures of thyroid RFA and then were qualified to perform thyroid RFA on real patients under the supervision of one experienced interventional radiologist.

23 real patients who received RFA and follow-up at least 6 months after treatment were included in Linkou Chang Gung Memorial Hospital from January 1, 2020 to October 1, 2021. Three young endocrinologists performed thyroid RFA independently. The outcomes were volume reduction rate (VRR), major complications and minor complications. The median VRR at 12 months was 82.00%, two major complications were transient hoarseness, and three minor complications were wound pain. All complications were completely recovered within three days.

For young and RFA-native physicians without any basic skills of echo-guided intervention, this food-assisted and -simulated training model of thyroid RFA was useful for medical training and education.
For young and RFA-native physicians without any basic skills of echo-guided intervention, this food-assisted and -simulated training model of thyroid RFA was useful for medical training and education.
Ectopic fat accumulation and abdominal fat distribution may have different cardiometabolic risk profiles. This study aimed to assess the associations between various magnetic resonance imaging (MRI)-acquired fat depots and cardiometabolic risk factors.

A total of 320 subjects with median age of 59 years, 148 men and 172 women, were enrolled in the study. Visceral adipose tissue (VAT) area and fat fraction (FF), subcutaneous adipose tissue (SAT) area and FF at the L1-L2 levels, preperitoneal adipose tissue (pPAT) area and FF, hepatic FF, pancreatic FF, and intramuscular FF were assessed by MRI FF maps. The associations of various MRI-acquired fat depots with blood pressure, glucose, and lipid were examined using sex-stratified linear regression. Logistic regression stratified by sex was used to analyze the association of various MRI-acquired fat depots with the risk of hypertension, T2DM, and dyslipidemia.

The intraclass correlation coefficient (ICC) values were >0.9, which suggested good interobserver and intraobserver agreement.
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