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1.
Article in English | MEDLINE | ID: mdl-38952179

ABSTRACT

Most cases associated with Hereditary Severe Insulin Resistance Syndrome (H-SIRS) are linked to mutations in the insulin receptor (INSR) gene. Patients with H-SIRS typically manifest symptoms of hyperinsulinemia, insulin resistance, and diabetes mellitus. Other symptoms include impaired glucose regulation, hyperandrogenism, and the presence of acanthosis nigricans (AN). In this report, we present two cases of H-SIRS in female children exhibiting various symptoms, such as hyperinsulinemia, fasting hypoglycemia, postprandial hyperglycemia, overweight, fatty liver, hyperandrogenism, and varying degrees of AN. One patient also presented with mental retardation. Gene sequencing identified specific mutations in the INSR gene for both patients: c.2663A > G (p.Tyr888Cys) and c.38_61del (p.Pro13_Ala20del). These mutations have the potential to disrupt the interaction between INSR and insulin, leading to abnormal insulin signaling, insulin resistance, and various clinical manifestations.

2.
PLoS One ; 19(3): e0299286, 2024.
Article in English | MEDLINE | ID: mdl-38551967

ABSTRACT

Red tourism is a distinctive form of tourism in China. Its network attention serves as a typical indicator to measure the level of promotion and publicity for red tourism, as well as an important reflection of its influence. Understanding the network structure of red tourism is of significant importance for optimizing the spatial pattern of tourism and promoting the development of the tourism industry. Based on this, this study takes the classic red tourism attractions in Shaanxi province, China as an example and constructs a multi-source data network attention evaluation index. Additionally, it employs social network theory to explore the network attention and tourist flow characteristics of the case study area. Research shows that: (1) Overall, the network attention to case-based destinations is relatively low, and there are significant differences in network attention among different attractions. Spatially, the distribution of network attention is uneven. This is manifested by higher network attention to attractions in Yan'an city and lower network attention to attractions in other regions. (2) There are differences in the network attention of different types of attractions. High-level attractions have a higher level of online attention, while low-level attractions have a lower level of network attention. Additionally, archaeological sites tend to receive a higher level of online attention. (3) The network density of tourist flow is low, and the tourism connections between nodes are not closely linked. The linkage between core nodes and edge nodes in tourism is poor. Developed tourism routes only exist in core nodes. (4) Nodes such as Zaoyuan revolution site, Yangjialing revolution site, and Wangjiaping revolution site have a significant influence in the network structure. In addition, the integration and development between red nodes and non-red nodes have been achieved. (5) There is a correlation between network attention and tourist flow, as well as a 'misplacement' feature. Based on the characteristics of attractions, they can be divided into four types: bright-star attractions, cash-cow attractions, thin-dog attractions, and question attractions. Based on the above conclusions, this study proposes targeted development recommendations.


Subject(s)
Archaeology , Industry , Cattle , Female , Animals , Dogs , China , Financial Statements , Receptors, Enterotoxin
3.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1014595

ABSTRACT

Trimethylamine N-oxide (TMAO) is an intestinal flora metabolite produced in the liver by the oxidation of trimethylamine (TMA) by hepatic enzymes. Recently, it has been found that plasma TMAO levels play an important role in the development and progression of osteoporosis. This review has presented the physiological functions and metabolic processes of TMAO, and its effects on the development and progression of osteoporosis through oxidative stress and inflammation. Plasma TMAO levels are influenced by diet as well as medications, which provides a new perspective and target for the treatment and prevention of osteoporosis.

4.
BMC Endocr Disord ; 20(1): 43, 2020 Apr 03.
Article in English | MEDLINE | ID: mdl-32245458

ABSTRACT

BACKGROUND: An accurate diagnosis for high-suspicion nodules based on the 2015 American Thyroid Association (ATA) guidelines would reduce unnecessary invasive examinations. Elastography is a useful tool for discriminating benign and malignant thyroid nodules. The aim of this study is to investigate the diagnostic efficiency of elastography for high-suspicion thyroid nodules based on the 2015 ATA guidelines in the Chinese population. METHODS: Thyroid nodules with high-suspicion characteristics based on the 2015 ATA guidelines were subjected to conventional ultrasound (US) and ultrasound strain elastography (USE) examinations at 12 hospitals from 4 geographic regions across China. Cytology/histology of thyroid nodules was used as a reference method. Receiver operating characteristic (ROC) curves were plotted to evaluate the diagnostic performance of the elasticity score (ES) and strain ratio (SR). Logistic regression analysis was used to determine the predictors of malignancy. RESULTS: Overall, a total of 1445 thyroid nodules (834 malignant, 611 benign) from 12 centers were included in the final analysis. The areas under the curve of the ES and SR were 0.828 and 0.732, respectively. The sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of the ES were 92.4, 60.7, 79.0, 76.3 and 85.5%, respectively, and those of the SR were 81.1, 50.1, 68.9, 65.9 and 67.9%, respectively. The combination of the Thyroid Imaging Reporting and Data System (TI-RADS) and ES led to a significant increase in the sensitivity and NPV (97.1 and 91.9%, respectively) compared with the TI-RADS alone. Logistic regression analysis showed that microcalcifications (OR = 5.290), taller than wide (OR = 12.710), irregular margins (OR = 10.117), extrathyroidal extension (ETE; OR = 6.412), the ES (OR = 3.741) and the SR (OR = 1.083) were independent predictors of malignant thyroid nodules. The sensitivity, specificity, accuracy, PPV and NPV of the ES were all superior in nodules ≥1 cm than in those < 1 cm (95.0% vs 90.4, 68.8% vs 56.8, 85.9% vs 74.4, 85.2% vs 69.9, and 87.8% vs 84.2%, respectively). CONCLUSIONS: Elastography combined with the ES is a valuable tool for the assessment of high-suspicion thyroid nodules based on the 2015 ATA guidelines, especially in nodules ≥1 cm.


Subject(s)
Elasticity Imaging Techniques/methods , Practice Guidelines as Topic/standards , Thyroid Neoplasms/diagnosis , Thyroid Nodule/diagnosis , Adult , Female , Follow-Up Studies , Humans , Male , Middle Aged , Prognosis , Thyroid Neoplasms/diagnostic imaging , Thyroid Nodule/diagnostic imaging
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