Prader-Willi syndrome diagnosed in adulthood: A case report / 中华内分泌代谢杂志

This article reports a case of Prader-Willi syndrome(PWS) diagnosed in adulthood. PWS is a rare genetic disease with most of the reported cases being diagnosed in infancy and childhood, and adulthood case is rarely reported. The patient had insidious symptoms in infancy and was diagnosed as PWS using genetic test in adulthood due to diabetes and menstrual disorders. This article focuses on the patient′s clinical manifestations in adulthood, and reviews relevant literature to improve the understanding of the disease.

Metabolic Disease Management Guideline for National Metabolic Management Center(2nd edition) / 中华内分泌代谢杂志

The latest epidemiological data suggests that the situation of adult diabetes in China is severe, and metabolic diseases have become significant chronic illnesses that have a serious impact on public health and social development. After more than six years of practice, the National Metabolic Management Center(MMC) has developed distinctive approaches to manage metabolic patients and has achieved a series of positive outcomes, continuously advancing the standardized diagnosis and treatment model. In order to further improve the efficiency, based on the first edition, the second edition guideline was composed by incorporating experience of the past six years in conjunction with the latest international and domestic guidelines.

The Syndromes of Resistance to Thyroid Hormone Beta / 罕见病研究

The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone resistance syndrome β (RTHβ) is caused by the mutations in the THRB gene. The main characteristics of RTHβ are increased thyroxine (T4) in the circulating blood, normal or elevated levels of triiodothyronine(T3), paired with normal or high thyroid-stimulating hormone (TSH) concentration. Clinically, it is easy to misdiagnose RTHβ as hyperthyroidism, and give anti-thyroid drugs, radioactive 131I therapy or surgery, which then leads to the aggravation of TH resistance, so the correct diagnosis of the disease is critical. In this paper, the molecular mechanism, clinical characteristics, diagnosis and treatment of RTHβ are summarized.

A comprehensive profile of TCF1+ progenitor and TCF1- terminally exhausted PD-1+CD8+ T cells in head and neck squamous cell carcinoma: implications for prognosis and immunotherapy / 国际口腔科学杂志·英文版

The heterogeneity of exhausted T cells (Tex) is a critical determinant of immune checkpoint blockade therapy efficacy. However, few studies have explored exhausted T cell subpopulations in human cancers. In the present study, we examined samples from two cohorts of 175 patients with head and neck squamous cell cancer (HNSCC) by multiplex immunohistochemistry (mIHC) to investigate two subsets of Tex, CD8+PD1+TCF1+ progenitor exhausted T cells (TCF1+Texprog) and CD8+PD1+TCF1- terminally exhausted T cells (TCF1-Texterm). Moreover, fresh tumor samples from 34 patients with HNSCC were examined by flow cytometry and immunohistochemistry to further investigate their properties and cytotoxic capabilities and their correlation with regulatory T cells (Tregs) in the tumor immune microenvironment (TIME). mIHC and flow cytometry analysis showed that TCF1-Texterm represented a greater proportion of CD8+PD1+Tex than TCF1+Texprog in most patients. TCF1+Texprog produced abundant TNFα, while TCF1-Texterm expressed higher levels of CD103, TIM-3, CTLA-4, and TIGIT. TCF1-Texterm exhibited a polyfunctional TNFα+GZMB+IFNγ+ phenotype; and were associated with better overall survival and recurrence-free survival. The results also indicated that larger proportions of TCF1-Texterm were accompanied by an increase in the proportion of Tregs. Therefore, it was concluded that TCF1-Texterm was the major CD8+PD1+Tex subset in the HNSCC TIME and that these cells favor patient survival. A high proportion of TCF1-Texterm was associated with greater Treg abundance.

Influencing factors of adult thyroid volume in Lanzhou City / 中华地方病学杂志

Objective:To investigate the thyroid volume of adults in Lanzhou City, and analyze its influencing factors.Methods:In June 2016, according to the principle of multi-stage stratified cluster sampling, Han residents aged 18 and above in Chengguan, Xigu and Qilihe districts of Lanzhou City who had lived there for more than 5 years were selected as research subjects, and a portable B-ultrasound machine was used for thyroid examination. Morning urine samples of the subjects were collected to test urinary iodine; fasting venous blood samples of the subjects were collected to test serum thyroid stimulating hormone (TSH), thyroid peroxidase antibody (TPOAb), anti-thyroglobulin antibody (TgAb), blood lipids [triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL)] and blood uric acid (Ua) levels. At the same time, body indexes systolic blood pressure (SP), diastolic blood pressure (DP), waist circumference, height and weight were measured, and the body mass index (BMI) was calculated. Multiple linear regression was used to analyze the influencing factors of thyroid volume.Results:A total of 1 009 subjects were included, aged (43.50 ± 15.16) years, and the thyroid volume was (8.74 ± 3.39) ml. Among them, 534 males had a thyroid volume of (9.46 ± 3.43) ml; 475 females had a thyroid volume of (7.93 ± 3.15) ml, the thyroid volume of males was larger than that of females ( t = 7.36, P < 0.01). Thyroid volume was positively correlated with age, height, weight, BMI, SP, waist circumference, LDL, Ua and TgAb ( r = 0.07, 0.23, 0.33, 0.27, 0.10, 0.27, 0.10, 0.08, 0.07, P < 0.05), and it was negatively correlated with thyroid nodules, TPOAb, TSH and urinary iodine ( r = - 0.16, - 0.07, - 0.10, - 0.08, P < 0.05). After multiple linear regression analysis, TSH, TPOAb, TgAb and thyroid nodules were included in the regression equation, and the standardized B values were - 0.135, - 0.065, 0.123 and - 0.197, respectively. Conclusions:The thyroid volume of males is larger than that of females in Lanzhou City. TSH, TPOAb, TgAb and thyroid nodules are influencing factors of thyroid volume.

Gestational hypothyroxinemia and offspring autism / 中华内分泌代谢杂志

Hypothyroxinemia is a common subclinical thyroid dysfunction in pregnant women. Epidemiological studies have shown that the offspring of maternal hypothyroxinemia have a significantly increased risk of autism, but mechanisms remain unclear. Studies from clinical and animals suggest that thyroid hormone deficiency may lead to irreversible damage to brain development, which may contribute to autism. This review explores the clinical evidence of gestational hypothyroxinemia and autism in offspring and the underlying mechanisms that promote the development and progression of autism. It also emphasizes the importance of early diagnosis and treatment of thyroid disease in pregnancy for the prevention of neurodevelopmental abnormalities in offspring.

Borderline subclinical hypothyroidism during first trimester of pregnancy in euthyroid patients with recurrent spontaneous abortion / 中华内分泌代谢杂志

Objective:To explore the risk factors of borderline subclinical hypothyroidism during first trimester of pregnancy in euthyroid patients with recurrent spontaneous abortion history.Methods:Among the 3 794 outpatients in the Sixth Obstetric Clinic of Shengjing Hospital of China Medical University from July 2017 to July 2019, 302 patients with recurrent spontaneous abortion and euthyroid function before pregnancy were selected after excluding those with abnormality in anatomy, coagulation, genetics, endocrine, infection, and immunology aspects through a systematic etiological screen. Exclusion of 62 patients with pre-pregnancy thyroid stimulating hormone (TSH) above 2.5 mIU/L, 240 recurrent spontaneous abortion patients were finally included. Borderline subclinical hypothyroidism is defined as the level of TSH higher than 2.5 mIU/L but less than the upper limit of pregnancy specific reference range during the first trimester. Among these 240 recurrent spontaneous abortion patients, 84 had borderline subclinical hypothyroidism and 156 were not. After analyzing the history, clinical and laboratory examination results of the two groups of patients, univariate analysis and multivariate logistic regression analysis were applied, to analyze and screen the high-risk factors of borderline subclinical hypothyroidism. Collinear diagnosis of regression analysis and correlation analysis were used to find out the if further relationships among the high-risk factors existed.Results:Univariate analysis suggested that conception method, pre-pregnancy TSH level, anti-nuclear antibody (ANA), lupus anticoagulant (LAC), and anti-β2 glycoprotein 1 (β2GP1) antibody were the potential high-risk factors ( P<0.1). Multivariate logistic regression analysis showed that pre-pregnancy TSH level>1.5 mIU/L ( OR=5.241, 95% CI 2.659-10.330), ANA positive ( OR=3.614, 95% CI 1.866-7.000), anti-β2GP1 antibody positive ( OR=3.415, 95% CI 1.176-9.917), and LAC positive ( OR=2.785, 95% CI 1.024-7.573) were independent risk factors of borderline subclinical hypothyroidism ( P<0.05 or P<0.01). No significant collinearity was found among the factors in the collinearity diagnosis. Except for the thyroid peroxidase antibody and thyroglobulin antibody ( P<0.01), no significant correlation was found among the non-organ-specific antibodies (NOSAs) and antithyroid antibodies. Conclusion:The level of pre-pregnancy TSH and NOSAs before pregnancy are the most important risk factors of borderline subclinical hypothyroidism during first trimester of pregnancy of euthyroid patients with recurrent spontaneous abortion history.

The Positive Association between Subclinical Hypothyroidism and Newly-Diagnosed Hypertension Is More Explicit in Female Individuals Younger than 65

Background@#Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. @*Methods@#Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. @*Results@#The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. @*Conclusion@#The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.

Establishment and application of reference interval for urinary iodine concentration/urinary creatinine ratio in early pregnancy / 中华内分泌代谢杂志

Objective:To explore the reference interval of urinary iodine concentration(UIC)/urinary creatinine(UCr) ratio evaluating the iodine nutritional status in early pregnancy women.Methods:A reference interval of UIC/UCr ratio was determined among 5 609 early pregnant women with normal thyroid function, negative thyroid autoantibodies, and no history of diseases or taking drug that may affect thyroid function. Then we verified the reliability of this reference interval in a group of 7 514 women in early pregnancy.Results:We determined the UIC/UCr ratio of 75-149 μg/g as the reference interval. In the reference interval, thyroglobulin antibody(TgAb), thyroid peroxidase antibody(TPOAb), and thyroglobulin(Tg) were all at lower levels, and the overall distributions were approximately U-shaped. The prevalence of thyroid dysfunction, the positive rates of antibodies and the proportion of Tg>40 μg/L were the lowest within the reference interval, while higher on both sides of the interval.Conclusion:The reasonable reference interval of the UIC/UCr ratio in iodine-sufficient regions is 75-149 μg/g in early pregnerty women.

The Positive Association between Subclinical Hypothyroidism and Newly-Diagnosed Hypertension Is More Explicit in Female Individuals Younger than 65

Background@#Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. @*Methods@#Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. @*Results@#The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. @*Conclusion@#The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.