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Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder primarily associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene or the aquaporin 2 (AQP2) gene, resulting in impaired water reabsorption in the renal tubules. This report describes a case of a young male patient with NDI from China with a history of polydipsia and polyuria for over 15 years. Laboratory examinations of the proband indicated low urine-specific gravity and osmolality. Urologic ultrasound revealed severe bilateral hydronephrosis in both kidneys, bilateral dilatation of the ureters, roughness of the bladder wall, and the formation of muscle trabeculae. The diagnosis of diabetes insipidus was confirmed by water deprivation tests. The administration of posterior pituitary hormone did not alter urine-specific gravity, and osmolality remained at a low level (<300 mOsm/kg). Based on these findings, and the genetic tests of the proband and his parents were performed. A missense mutation (c.616 G>C) in exon 3 of the AVPR2 gene of the proband was found, caused by the substitution of amino acid valine to leucine at position 206 [p.Val206Leu], which was a hemizygous mutation and consistent with X-chromosome recessive inheritance. The administration of oral hydrochlorothiazide improves the symptoms of polydipsia and polyuria in the proband. This novel AVPR2 gene mutation may be the main cause of NDI in this family, which induces a functional defect in AVPR2, and leads to reduced tubular reabsorption of water. [ABSTRACT FROM AUTHOR]

To investigate the correlation between serum ferritin (SF) and bone turnover markers in type 2 diabetes mellitus (T2DM) patients with non-alcoholic fatty liver disease (NAFLD). Seven hundred and forty-two people with T2DM were selected. Serum bone turnover markers: osteocalcin (OC), type I procollagen N-terminal peptide (PINP), β-I type collagen carboxy-terminal peptide (β-CTx), and 25-hydroxyvitamin D3 (25-[OH]-D) levels were detected. High SF (HF) was defined as the indicated SF levels above 400 ng/mL in males and more than 150 ng/mL in females. Patients were divided into four groups: T2DM+normal SF (non-HF); T2DM+high SF (HF); T2DM+NAFLD+non-HF; andT2DM+NAFLD+HF. Relationships between SF and bone turnover markers were analyzed. Compared with the T2DM+non-HF group, β-CTx levels were higher in the T2DM+HFgroup. Compared with the T2DM+NAFLD+non-HF group, β-CTx levels were increased and 25-(OH)-D levels decreased in the T2DM+NAFLD+HF group (all p < 0.05). SF was positively correlated with β-CTx [β = 0.074; 95% CI (0.003, 0.205)] and negatively correlated with 25-(OH)-D [β=-0.108; 95%CI (−0.006, −0.001)]. Compared with the T2DM+non-HF group, an independent positive correlation was found between β-CTx and SF in the T2DM+NAFLD+HF group [OR = 1.002; 95% CI (1.001, 1.004)]. Among males, SF was positively correlatedwith β-CTx [β = 0.114; 95% CI (0.031, 0.266)]. SF was negatively correlated with 25-(OH)-D levels in both male and female patients [β=-0.124; 95% CI (0.007,0.001) and β=-0.168; 95% CI (−0.012, −0.002)]. Among those >50 years of age and postmenopausal females, SF was negatively correlated with 25-(OH)-D levels [β=-0.117; 95% CI (−0.007, −0.001) and β=-0.003; 95% CI (−0.013, −0.003)]. SF level was positively correlated with β-CTx in T2DM patients with NAFLD, which may promote bone resorption and increase the risk of bone loss. [ABSTRACT FROM AUTHOR]

Background: The interaction and combined effect of the triglyceride-glucose (TyG) index, an alternative parameter of insulin resistance, along with hypertension (HT), on the risk of peripheral arterial disease (PAD), a specific type of atherosclerotic cardiovascular disease, in individuals with type 2 diabetes (T2D) seems straightforward. However, specific research on this topic remains scarce.In this cross-sectional study, 2027 adult participants with T2D were devided into four groups based on the mean values of TyG index and various blood pressure parameters along with its category. Binary logistic regression, interaction analysis, combined effect size, and goodness-of-fit of the constructed models were performed.The TyG index’s individual effect and it’s combined effect with HT, or higher systolic blood pressure (SBP) or higher mean arterial pressure in patients with T2D correlated with a higher PAD risk respectively (odds ratio [OR], 0.50, [95% confidence interval {CI} 0.28–0.89]; OR, 0.32, [95% CI 0.12–0.90]; OR, 0.35, [95% CI 0.13–0.94]; OR, 0.35, [95% CI 0.12–0.98], respectively). Only an interaction effect exists between the TyG index and SBP (multiplicative interaction{INTM}: 1.02 [1.002, 1.038]). Combining them can significantly improve the accuracy of predicting PAD (area under the receiver operating characteristic curve {AUC}MAX = 0.7, AUCModel3 + TyG index + SBP—AUCModel3 = 0.027). All P values were < 0.05.This study suggested that TyG index and hypertension, as well as their combined and interaction effect were significantly correlated with the risk of PAD in T2D individuals.Methods: The interaction and combined effect of the triglyceride-glucose (TyG) index, an alternative parameter of insulin resistance, along with hypertension (HT), on the risk of peripheral arterial disease (PAD), a specific type of atherosclerotic cardiovascular disease, in individuals with type 2 diabetes (T2D) seems straightforward. However, specific research on this topic remains scarce.In this cross-sectional study, 2027 adult participants with T2D were devided into four groups based on the mean values of TyG index and various blood pressure parameters along with its category. Binary logistic regression, interaction analysis, combined effect size, and goodness-of-fit of the constructed models were performed.The TyG index’s individual effect and it’s combined effect with HT, or higher systolic blood pressure (SBP) or higher mean arterial pressure in patients with T2D correlated with a higher PAD risk respectively (odds ratio [OR], 0.50, [95% confidence interval {CI} 0.28–0.89]; OR, 0.32, [95% CI 0.12–0.90]; OR, 0.35, [95% CI 0.13–0.94]; OR, 0.35, [95% CI 0.12–0.98], respectively). Only an interaction effect exists between the TyG index and SBP (multiplicative interaction{INTM}: 1.02 [1.002, 1.038]). Combining them can significantly improve the accuracy of predicting PAD (area under the receiver operating characteristic curve {AUC}MAX = 0.7, AUCModel3 + TyG index + SBP—AUCModel3 = 0.027). All P values were < 0.05.This study suggested that TyG index and hypertension, as well as their combined and interaction effect were significantly correlated with the risk of PAD in T2D individuals.Results: The interaction and combined effect of the triglyceride-glucose (TyG) index, an alternative parameter of insulin resistance, along with hypertension (HT), on the risk of peripheral arterial disease (PAD), a specific type of atherosclerotic cardiovascular disease, in individuals with type 2 diabetes (T2D) seems straightforward. However, specific research on this topic remains scarce.In this cross-sectional study, 2027 adult participants with T2D were devided into four groups based on the mean values of TyG index and various blood pressure parameters along with its category. Binary logistic regression, interaction analysis, combined effect size, and goodness-of-fit of the constructed models were performed.The TyG index’s individual effect and it’s combined effect with HT, or higher systolic blood pressure (SBP) or higher mean arterial pressure in patients with T2D correlated with a higher PAD risk respectively (odds ratio [OR], 0.50, [95% confidence interval {CI} 0.28–0.89]; OR, 0.32, [95% CI 0.12–0.90]; OR, 0.35, [95% CI 0.13–0.94]; OR, 0.35, [95% CI 0.12–0.98], respectively). Only an interaction effect exists between the TyG index and SBP (multiplicative interaction{INTM}: 1.02 [1.002, 1.038]). Combining them can significantly improve the accuracy of predicting PAD (area under the receiver operating characteristic curve {AUC}MAX = 0.7, AUCModel3 + TyG index + SBP—AUCModel3 = 0.027). All P values were < 0.05.This study suggested that TyG index and hypertension, as well as their combined and interaction effect were significantly correlated with the risk of PAD in T2D individuals.Conclusion: The interaction and combined effect of the triglyceride-glucose (TyG) index, an alternative parameter of insulin resistance, along with hypertension (HT), on the risk of peripheral arterial disease (PAD), a specific type of atherosclerotic cardiovascular disease, in individuals with type 2 diabetes (T2D) seems straightforward. However, specific research on this topic remains scarce.In this cross-sectional study, 2027 adult participants with T2D were devided into four groups based on the mean values of TyG index and various blood pressure parameters along with its category. Binary logistic regression, interaction analysis, combined effect size, and goodness-of-fit of the constructed models were performed.The TyG index’s individual effect and it’s combined effect with HT, or higher systolic blood pressure (SBP) or higher mean arterial pressure in patients with T2D correlated with a higher PAD risk respectively (odds ratio [OR], 0.50, [95% confidence interval {CI} 0.28–0.89]; OR, 0.32, [95% CI 0.12–0.90]; OR, 0.35, [95% CI 0.13–0.94]; OR, 0.35, [95% CI 0.12–0.98], respectively). Only an interaction effect exists between the TyG index and SBP (multiplicative interaction{INTM}: 1.02 [1.002, 1.038]). Combining them can significantly improve the accuracy of predicting PAD (area under the receiver operating characteristic curve {AUC}MAX = 0.7, AUCModel3 + TyG index + SBP—AUCModel3 = 0.027). All P values were < 0.05.This study suggested that TyG index and hypertension, as well as their combined and interaction effect were significantly correlated with the risk of PAD in T2D individuals. [ABSTRACT FROM AUTHOR]