Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene.

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.

Application of health self-management intervention program for metabolic syndrome patients in the bereaved population following the Wenchuan earthquake.

Background: The destructive Wenchuan earthquake has led to approximately 800,000 people being bereaved. In the previous cross-sectional study, we explored the long-term incidence of Metabolic Syndrome (MS) and studied its influencing factors among the bereaved population 12 years after the Wenchuan earthquake. Chronic disease self-management has become a recognized public health service. Studies have shown that demographic and genetic factors, stress, geographical environment, society, culture, dietary habits, lifestyle, and other aspects influence MS. Due to the Wenchuan earthquake being a serious stress event, the implementation of targeted interventions should be discussed further. Objectives: To verify the effect of applying a self-management intervention program for patients with MS among the bereaved population following the Wenchuan earthquake. Design: A randomized controlled trial (RCT) design was adopted. Participants: A total of 132 bereaved patients with MS following the Wenchuan earthquake constituted the sample. Methods: The study was based on the Cognitive-Phenomenological-Transaction, Chronic Disease Self-Management Program, and Patient Empowerment Conceptual Model, which combined with the latest evidence-based guidelines, were used to systematically evaluate cross-sectional results of this study that were used to construct a stress management-based health self-management intervention program and MS health self-management manual for bereaved patients with MS following the Wenchuan earthquake. In addition, we revised and completed a health self-management intervention program and health self-management manual for patients with MS by using the expert consultation method. General data were collected prior to intervention (T0). We collected the patients' MS disease-related physiological indicators before intervention (T0), after intervention (T1), and 2 months after intervention (T2). EipData3.1 software was used to input data in duplex and duplicate, and SPSS22.0 software was used for statistical analysis. Results: The variance analysis showed that the total score of healthy self-management behavior and the score of diet management, exercise management, drug management, and emotional management have intergroup effects, time effects, and group-time interaction effects (p < 0.05). When the differences between groups were further compared, we found that the total score and the score of six dimensions (excluding disease self-monitoring management) were higher than those of the control groups at T1 and T2, and the differences were statistically significant (p < 0.05). Conclusion: The intervention program of healthy self-management for patients with MS who come from bereaved families following the Wenchuan earthquake can effectively improve patients' health self-management behaviors.

Systematic review and meta-analysis of stress management intervention studies in patients with metabolic syndrome combined with psychological symptoms.

BACKGROUND: Metabolic syndrome is affected by many factors, including lifestyle, mood, etc. Self-management of chronic diseases has attracted significant attention from researchers. Some studies have shown that patient self-management is a very important link, which can effectively alleviate the risk of further deterioration of the disease. However, so far, there has been no report on the basis of the summary of self-management intervention programs based on emotion management, which needs further in-depth discussion by researchers. METHODS: The Medline (PubMed), Embase (Elsevier), PsycINFO (Ovid), CBM, CNKI and Wanfang databases were searched from the establishment of the databases to June 2022, and a total of 25 studies were traced. The inclusion criteria on stress management in patients of metabolic syndrome complicated with psychological symptoms uses meta-analysis. Two investigators independently assessed the risk of bias for each study using the Cochrane risk of bias tool.16 studies and 2687participants and relevant characteristics of studies. RESULTS: In the effects of intervention measures based on stress management on depression, fasting plasma glucose, 2hFPG, high-density cholesterol, self-management behavior and quality of life in patients with psychological symptoms (depression, anxiety, and schizophrenia) complicated with metabolic diseases, there are statistically significant differences between the intervention group and the control group (P < .05). CONCLUSIONS: Stress management intervention can effectively improve the health outcomes of patients. In all included analysis indicators, the results of the experimental group are better than those of the control group.

Correlation Between Serum TSH Levels Within Normal Range and Serum Lipid Profile.

The aim of the work was to investigate the correlation between serum TSH (thyrotropin) levels within normal range and serum lipids. A total of 1962 subjects with normal thyroid function were enrolled. The subjects were divided into four groups according to the quartiles of serum normal TSH levels, [Q1 (0.27-1.68) mIU/l, Q2 (1.69-2.35) mIU/l, Q3 (2.36-3.07) mIU/l, and Q4 (3.08-4.20) mIU/l]. The effect of serum normal TSH levels on serum lipid profiles of different age or gender was analyzed. The total cholesterol (TC), triglyceride (TG), and low-density lipoprotein cholesterol (LDL-C) levels of the Q3 group and TG levels of the Q4 group were higher than those of the Q1 group in youth (p <0.05). The TC levels of the Q3 group were higher than those of the Q2 group in middle age (p <0.05). The LDL-C levels of middle age or elderly were higher than those of youth at the same TSH levels (p <0.05), while the TC levels of middle age were higher than those of youth in Q1, Q3, or Q4 group (p <0.05), and the TC and HDL-C levels of elderly were higher than those of youth in the Q2 group (p <0.05). The TG levels of the Q3 group were higher than those of Q1 group in males (p <0.05). The LDL-C levels of the Q3 group were higher than those of the Q1 group in females (p <0.05). In conclusion, the normal serum TSH levels were found to be closely related to serum lipid profiles, and with increasing TSH levels, serum lipids levels increased gradually.

Metabolic syndrome risk in relation to posttraumatic stress disorder among trauma-exposed civilians in Gansu Province, China.

This study included 1456 men and 1411 women who were trauma-exposed and underwent routine health examinations in a community epidemiological investigation. The participants completed the posttraumatic stress disorder (PTSD) Check List-Civilian Version (PCL-C) for PTSD and medical examinations to detect metabolic syndrome. Adjustments for age, marriage, exercise, education, cigarette smoking, cancer, stroke, angina, and thyroid disease were performed. The relationship between PTSD and metabolic syndrome and each of its components was analyzed by multiple logistic regression.In women, PTSD was associated with metabolic syndrome (OR = 1.53, 95% CI = 1.01-1.95, P = .047) and the high-density lipoprotein cholesterol component (OR = 1.98, 95% CI = 1.04-2.12, P = .002). In men, PTSD was related to the hypertension component of metabolic syndrome (OR = 0.54, 95% CI = 0.31-0.92, P = .023). There was also a relationship between PTSD severity and metabolism (OR = 1.141, 95% CI = 1.002-1.280, P = 0.037) in women, and PTSD was inversely associated with the hypertension component (OR = 0.54, 95% CI = 0.31-0.92, P = .023) in men.PTSD was related to metabolic syndrome only in women. We plan to further research the mechanism of sex differences and dyslipidemia.

Obsessive-compulsive disorder in general hospital outpatients: prevalence, correlates, and comorbidity in Lanzhou, China.

INTRODUCTION: The prevalence of obsessive-compulsive disorder (OCD), risk factors, and comorbidity rates of Chinese outpatients in Lanzhou general hospitals are unknown. METHOD: The prevalence rate of OCD was estimated in a representative sample of outpatients in three classes of general hospitals in Lanzhou, China. The rate of OCD within the sample, which was composed of 1,576 individuals aged 16 years or older, was assessed using the World Health Organization Composite International Diagnostic Interview Version 3.0. RESULTS: The weighted prevalence of OCD were 4.31% (lifetime), 2.86% (12-month), and 1.97% (30-day). Multivariate logistic regression identified the following independent predictors of having lifetime OCD: having a higher level of education, being unemployed, an internal medicine outpatient, a female, 16-35 years old, divorced/widowed/separated, and having a low family income. OCD had a significant comorbid association with neuroses, based on the International Statistical Classification of Diseases and Related Health Problems-10th Revision. DISCUSSION: These findings show a lower prevalence rate of OCD in Lanzhou general hospitals than that reported for some specialized outpatient clinics in Western countries. Further investigations are required to explore the relationships between OCD and the risk factors identified in the current study. Resolving methodological problems may lead to more accurate prevalence estimates in future epidemiological studies. Our findings suggest that there is an urgent need to improve the ability of clinicians to detect OCD in outpatients.