关于Tourette综合征几个问题的讨论

Tourette's syndrome(TS)是一种常染色体显性遗传伴外显率表现度变异的疾病.本病由Itard(1825)首先报道,60年后(1885)George Gilles dela Tourette详细描述9例病例,此后命名为TS.国内自林节(1963)报道3例以来,以后陆续有病例报道.我们从1991年1月至1998年2月共诊治TS189例,现就TS命名、诊断与分型、病因、治疗等几个问题予以讨论.     

《国际专家组共识:成人隐匿性自身免疫糖尿病的管理》解读

成人隐匿性自身免疫糖尿病(LADA)是成人起病、缓慢进展的自身免疫疾病,占所有成人发病糖尿病患者的2%~12%。目前国际上对LADA患者的诊断与管理尚存争议。2020年8月国际专家组发布了共识,即《国际专家组共识:成人隐匿性自身免疫糖尿病的管理》。共识中总结了LADA的特征、回顾评估了目前的治疗方案,重点提出了LADA的治疗策略与管理路径,并推荐根据C肽水平将LADA患者进行分类管理。笔者就该共识的相关内容进行解读,旨在为同行提供参考。     

成人隐匿性自身免疫性糖尿病的临床特点及诊断模型验证

目的调查吉林省地区病程≤1年的成人糖尿病患者中LADA患者的比例及临床特点,并验证T1DM诊断模型(CODE)。方法选取2015年3月至2018年3月于吉林大学第二医院门诊及住院治疗的、病程≤1年且年龄18～75岁的糖尿病患者397例,检测GADAb,计算其中LADA患者比例,分析其临床特点,并验证CODE。结果 397例糖尿病患者中,LADA患者(LADA组)44例(11.08%),T2DM患者(T2DM组)353例。LADA组BMI、FC-P及2 hC-P均低于T2DM组[(22.70±3.70)vs(25.21±3.86)kg/m~2,(0.73±0.59)vs(1.42±1.02)ng/ml,(1.57±1.49)vs(3.31±2.42)ng/ml,P0.01],有DKA、甲状腺疾病史的比例高于T2DM组(22.7%vs 8.2%,34.1%vs 7.4%,P0.01)。以CODE-C010.80为切点时,诊断LADA特异度和灵敏度分别为98.3%和11.4%;以CODE-C12010.91为切点时,诊断LADA特异度和灵敏度分别为96.9%和20.5%。结论 LADA在病程≤1年的成人糖尿病患者中占11.08%;与T2DM患者比较,LADA患者BMI、FC-P及2 hC-P水平降低,DKA及甲状腺疾病发生率升高。应用CODE验证LADA的特异度和灵敏度差异较大。     

血清C-肽筛查成人自体免疫糖尿病及其临床意义

早期发现成人自体免疫糖尿病 (LADA)并及早应用胰岛素治疗是保护胰岛 β细胞功能的关键。 39例LADA和 39例 2型糖尿病 (T2DM )患者在年龄 ,性别 ,糖尿病病期等方面互相匹配。谷氨酸脱羧酶 (GAD)抗体 (Ab)阳性者确诊LADA。LADA组的平均C 肽水平为 (1 0± 0 2 )ng/ml,T2DM组为 (5 1± 0 4 )ng/ml。LADA组仅仅 1例C 肽 >正常 ,而T2DM组全部病例C 肽正常或 >正常。成人期起病的糖尿病患者 ,凡C 肽水平升高者 ,可以排除LADA。筛查中随意C 肽水平低于正常或者正常 ,应该测定GAD Ab ,阳性者确诊LADA。LADA确定诊断时的年…     

成人隐匿性自身免疫性糖尿病诊治的相关研究进展

LADA属于T1DM,其早期表现类似T2DM.LADA在新诊断T2DM患者中发病率为10％.国内外公认的LADA诊断要点为成年起病、存在胰岛自身抗体和诊断后至少6个月不依赖胰岛素治疗.其中,胰岛自身抗体是诊断LADA的重要指标.基因、非胰岛细胞的自身抗体和细胞免疫标志可能成为新的辅助诊断依据.早期应用胰岛素可能对部分LADA患者胰岛细胞有保护作用.     

成人迟发自身免疫性糖尿病的基因背景

成人迟发自身免疫性糖尿病 (LADA)是一多基因遗传疾病。人类白细胞抗原 (HLA)基因与LADA的发病、发病年龄、自身抗体有关。与主要组织相容性复合物Ⅰ类链相关的A基因 (MICA基因 )多态性和一些非HLA基因如神经分化因子 / β细胞E盒转录激活因子 2 (NeuroD/BETA2 )基因、肿瘤坏死因子 α启动子多态、细胞毒性T淋巴细胞相关抗原 4、CD38及其自身抗体也与LADA的发病有一定关系。     

谷氨酸脱羧酶抗体滴度与成人隐匿性自身免疫糖尿病

成人隐匿性自身免疫糖尿病(LADA)属于缓慢起病的自身免疫性1型糖尿病,谷氨酸脱羧酶抗体(GADAb)阳性对LADA的诊断具有决定性作用。研究发现GAD-Ab滴度可能与LADA患者的细胞免疫、易感基因、临床特征、胰岛功能等相关,因此推断LADA可能存在与GAD-Ab滴度相关的异质性。研究具有不同抗体滴度LADA患者的胰岛病理改变有助于了解β细胞的免疫破坏进程、尝试新的免疫干预措施,从而为1型糖尿病的治疗及预防提供依据。     

特纳综合征合并冠心病1例报告并文献复习

<正>特纳综合征(Turner syndrome,TS)又称先天性卵巢发育不全,是由于女性患者细胞中一条X染色体缺失(部分或全部)以及结构异常所致的一种疾病,其发病率在活产女婴中约1/2500,在临床上比较少见。Turner综合征的核型可分为4类,即单一型、嵌合型、X染色体结构异常及含Y染色体核型[1]。其主要特征包括:身材矮小,性腺高度发育不良,第二性征发育较差,原发性的闭经,肘外翻,蹼颈,部分还伴有先     

两种成人隐匿性自身免疫糖尿病亚型的谷氨酸脱羧酶抗体界值的探讨

目的　探讨判别两种成人隐匿性自身免疫糖尿病(LADA)亚型的最佳谷氨酸脱羧酶抗体(GAD-Ab)界值及其诊断价值。　方法　绘制LADA患者GAD-Ab指数的频数分布图,进行曲线拟合。比较130例经典1型糖尿病、145例2型糖尿病和145例LADA患者的临床特点,利用受试者运筹特征(ROC)曲线比较不同GAD-Ab滴度对LADA患者中反映 LADA 1 型特征的胰岛素缺乏和反映LADA 2型特征的代谢综合征(MS)的诊断价值,确定诊断两种 LADA亚型的最佳 GAD-Ab界值。用放射配体法测定 GAD-Ab。　结果　(1) GAD-Ab 频数在 LADA患者中呈双峰分布模式。(2)以GAD Ab指数0.3为切点所区分的两组LADA患者具有差异的临床特征最多。(3)ROC曲线显示GAD Ab指数0.3是区分两种LADA亚型的最佳界值,其对胰岛素缺乏和MS诊断的敏感性和特异性分别为54 5%和92 1%,ROC曲线下面积为 0.79(与 0.5 相比,P<0.01)。　结论　GAD Ab指数0 3是区分LADA-1型和LADA-2型的最佳界值。     

谷氨酸脱羧酶抗体滴度与成人隐匿性自身免疫糖尿病

成人隐匿性自身免疫糖尿病(LADA)属于缓慢起病的自身免疫性1型糖尿病，谷氨酸脱羧酶抗体(GAD-Ab)阳性对LADA的诊断具有决定性作用。研究发现GAD-Ab滴度可能与LADA患者的细胞免疫、易感基因、临床特征、胰岛功能等相关，因此推断LADA可能存在与GAD-Ab滴度相关的异质性。研究具有不同抗体滴度LADA患者的胰岛病理改变有助于了解β细胞的免疫破坏进程、尝试新的免疫干预措施，从而为1型糖尿病的治疗及预防提供依据。     

Autoantibodies to alfa-fodrin in patients with Hashimoto thyroiditis and Sjögren’s syndrome: possible markers for a common secretory disorder

Presence of autoantibodies to alfa-fodrin was investigated in patients with Sjögren’s syndrome (n = 61), Hashimoto thyroiditis (n = 27), Sjögren’s syndrome associated with Hashimoto thyroiditis (n = 31) and in healthy persons (n = 77). In each group, level of alfa-fodrin antibodies was higher than in the controls. There was no significant difference in their presence either between patients with Hashimoto thyroiditis with or without Sjögren’s syndrome, or—in IgA isotype—between Sjögren’s and Hashimoto thyroiditis patients. Correlation was found between the level of IgG alfa-fodrin and anti-thyroglobulin antibodies. Based on these findings, fodrin can be associated with both endocrine and exocrine glandular secretion. Antibodies to alfa-fodrin might have a role in the pathogenesis of Hashimoto thyroiditis concerning the “final common effectory pathway”, secretion. Alfa-fodrin antibodies can be good markers of secretory disorders. Assessment of these autoantibodies might help the diagnosis and follow-up of patients with impaired secretory capability of not only autoimmune origin.     

Chronic periaortitis with antiphospholipid syndrome

Chronic periaortitis (CP) is a rare disease, the common denominator of which is a retroperitoneal periaortic fibroinflammatory tissue that frequently obstructs neighboring structures. CP has already been reported in association with various autoimmune disorders, such as Hashimoto’s thyroiditis, systemic lupus erythematosus and Sjögren’s syndrome. The association with autoimmune disorders suggests that CP is a manifestation of a systemic autoimmune process. We describe the first case of antiphospholipid syndrome in a patient with CP.     

Ankylosing spondylitis in a patient with Turner syndrome: a case report

Turner’s syndrome (TS) is a chromosomal disorder where phenotypic females have either a missing chromosome (45 X0) or a structural aberration of one of the chromosomes. It is possible for TS to accompany such autoimmune diseases as thyroid diseases, inflammatory intestinal diseases, diabetes mellitus, psoriatic arthritis and juvenile rheumatoid arthritis. Herein, we present an unusual case with Ankylosing spondylitis (AS) and autoimmune thyroiditis associated with TS. We suggest that the possibility that TS patients may also develop such other diseases as AS apart from the already known accompanying autoimmune diseases should not be ruled out when monitoring TS patients.     

A case of primary Sjögren’s syndrome complicated by Graves’ disease and primary biliary cirrhosis

A patient with primary Sjögren’s syndrome (SS) who developed Graves’ disease and primary biliary cirrhosis (PBC) is described. Co-existence of these three organ-specific autoimmune diseases has been identified based on the findings of clinical and pathological examination. Although the association of SS with Hashimoto’s thyroiditis or PBC has been well recognized, the association of SS with Graves’ disease is quite rare. Therefore, this may be the first report describing the coexistence of these three organ-specific autoimmune diseases in the same patient.     

A case of primary Sjögren’s syndrome complicated by Graves’ disease and primary biliary cirrhosis

Abstract

A patient with primary Sjögren’s syndrome (SS) who developed Graves’ disease and primary biliary cirrhosis (PBC) is described. Co-existence of these three organ-specific autoimmune diseases has been identified based on the findings of clinical and pathological examination. Although the association of SS with Hashimoto’s thyroiditis or PBC has been well recognized, the association of SS with Graves’ disease is quite rare. Therefore, this may be the first report describing the coexistence of these three organ-specific autoimmune diseases in the same patient.     

Hyperthyreose

Thyrotoxicosis is mainly caused by autonomous adenomas of the thyroid gland and by Graves’ disease. A less frequent cause for thyrotoxicosis is Hashimoto’s thyroiditis. Thyrotoxicosis in autonomous adenomas and Graves’ disease is caused by an increased thyroid hormone production whereas hyperthyroidism in Hashimoto’s thyroiditis results from destruction of the thyroid gland. Drug therapy depends on the cause of the disease. Autonomous adenomas and Graves’ disease are treated with methimazole and potentially with β-blockers. Regarding thyroid ablative therapy, radioiodine is mostly preferred compared to thyroidectomy. Drug therapy of Hashimoto’s thyroiditis is purely symptomatic using β-blockers and rarely corticosteroids. Hyperthyroidism in pregnancy is a major issue and pregnant women in the first trimester are treated with propylthiouracil (PTU) whereas women in the second and third trimesters are treated with methimazole. The aim is to maintain the serum fT4 levels within the upper normal range.     

自身免疫性肝炎合并干燥综合征、桥本甲状腺炎伴白细胞减少1例

自身免疫性肝炎(autoimmune hepatitis,AIH)是临床上较常见的非病毒性肝炎类型,干燥综合征、桥本甲状腺炎也是常见的自身免疫性疾病,但合并以上3种自身免疫性疾病的病例较为少见.该文报道和回顾了1例以白细胞减少起病的AIH合并干燥综合征、桥本甲状腺炎的临床表现、诊断治疗过程,在临床工作过程中应注意非病毒性肝炎合并其他自免疾病的可能,提高诊疗质量.     

Coexistence of primary aldosteronism and Hashimoto’s thyroiditis

In light of research carried out in recent years, it seems that aldosterone may produce a complex proinflammatory effect. Theoretically, excessive aldosterone release may stimulate the development and/or progression of autoimmune disorders. In this article, we report a case of a female in whom primary aldosteronism coexisted with Hashimoto’s thyroiditis. Surgical removal of an aldosterone-producing tumor improved thyroid function and decreased thyroid autoimmunity. We describe in details diagnostic and treatment strategies applied in our patient and their impact on the course and outcome of thyroiditis. We also present monocyte and lymphocyte cytokine release in the index subjects before and after surgical treatment. We conclude that primary aldosteronism may exacerbate the clinical course of autoimmune thyroiditis and probably also of other autoimmune disorders.     

Autoimmune thyropathies in diabetics

Autoimmune thyropathies are frequent in patients with type 1 diabetes mellitus. Some recently published papers confirm similarly high prevalence of autoimmune thyropathies also in patients with type 2 diabetes mellitus. Chronic autoimmune thyroiditis is the most frequent form of autoimmune thyropathies. Authors examined 79 accidentally selected diabetics (38 women and 41 men, x = 55.4 +/- 2.8). Diabetic patients were divided into three groups. 20 patients with type 1 diabetes mellitus - classical form were the first group, 12 patients with LADA were the second group and 47 patients with type 2 diabetes mellitus constituted the third group. Authors diagnosed chronic autoimmune thyroiditis in 8 (40 %) patients in the group of patients with type 1 diabetes mellitus, in 6 (50%) in the group of patients with LADA and in 20 (43%) of patients with type 2 diabetes mellitus. They didn't find out statistically more frequent prevalence of chronic autoimmune thyroiditis in all groups of patients with diabetes (patients with type 1 diabetes mellitus, patients with LADA, patients with type 2 diabetes mellitus) in comparison with control group of non-diabetic subjects. They found out statistically significant more frequent prevalence of chronic autoimmune thyroiditis in diabetics of woman gender and in diabetics with positive family history of thyropathies. Results of paper confirm recommendation of examining once or twice a year autoantibodies against thyroid gland and level of thyrotropin (TSH) with the aim of early finding of laboratory manifestation of thyroidal autoimmunity or developing functional disorder.     

桥本甲状腺炎和甲状腺癌的关系

近年来,桥本甲状腺炎和甲状腺癌（尤其是乳头状甲状腺癌）患病率均呈上升趋势,桥本甲状腺炎合并甲状腺癌也逐年增加.桥本甲状腺炎与甲状腺癌相关性的机制尚未明了,目前有共同病因学说、癌前病变学说、淋巴细胞浸润学说3种观点,其中共同病因包括辐射、高碘、免疫及促甲状腺激素作用等,在共同病因作用下,桥本甲状腺炎、甲状腺癌患病率均升高.一些分子在桥本甲状腺炎和甲状腺癌高表达,与甲状腺其他疾病存在表达差异,可预测桥本甲状腺炎与甲状腺癌的相关性.甲状腺癌灶周围组织淋巴细胞的浸润也可能与桥本甲状腺炎相关.