HLA markers in familial Lichen Sclerosus

Background: Lichen sclerosus (LS) has been identified with increased frequency in families,often associated with HLA markers, mainly DQ7. A genetic co‐etiology seems likely in this setting. Moreover, there is an association of LS with autoimmune disorders, such as the presence of anti‐thyroid peroxidase autoantibodies (anti‐TPO), a hallmark of autoimmune thyroid diseases. Patients and Methods: In 3 families affected by LS, we verified their HLA markers, and identified previously undiagnosed cases of LS and autoimmune disorders. 30 individuals were examined with history, skin biopsy, HLA class I and II typing by PCR‐SSP, and measurement of anti‐TPO, free thyroxine and thyroidstimulating hormones (TSH) levels. Results: There were 8 cases of LS, 50 % of them anti‐TPO+. Autoimmune disorders were found in 40 % (total) and in 87.5 % of those affected. Most common HLA markers were B*15, B*57, CW*03, CW*07, CW*18, DRB1*04, DRB1*07, DRB4*. The three latter have been previously associated with LS. Conclusion: New cases of LS and autoimmune disorders can be detected in first degree relatives of patients with LS. The presence of anti‐TPO antibodies strongly suggests autoimmune thyroiditis. There is intra‐familial association between the haplotype HLA‐B*15 ‐DRB1*04 ‐DRB4* and anti‐TPO,emphasizing their link with thyroiditis. New familial approaches might help to make clear the pathogenesis of LS and its association with autoimmune diseases.     

Occurrence of thyroid autoimmunity in relapsing remitting multiple sclerosis patients undergoing interferon-β treatment

We analyzed the titer of antithyroid autoantibodies Abs) and thyroid function in 17 multiple sclerosis (MS) patients undergoing interferon-β (IFN-β) treatment and in 40 MS control patients. Basal evaluation revealed normal thyroid function in all patients. Abs were detected in 5 IFN-β-treated patients (29%) and in 4 MS control patients (10%). Our results indicate that IFN-β treatment may lead to thyroid autoimmunity. We therefore recommend periodic evaluations of antithyroid Abs and thyroid functionality in IFN-β-treated MS patients.     

Experimental autoimmune thyroiditis in nonobese diabetic mice lacking interferon regulatory factor-1

Interferon regulatory factor-1 (IRF-1) is pivotal in the regulation of interferon (IFN)-mediated immune reactions, and studies suggest that IRF-1 is involved in the development of autoimmune diseases. IRF-1+/+, +/-, and -/- nonobese diabetic (NOD) mice were immunized with mouse thyroglobulin (mTg) to determine whether IRF-1 is required in experimental autoimmune thyroiditis (EAT), a murine model for Hashimoto's thyroiditis (HT). IRF-1-deficient mice developed EAT and anti-mTg antibodies comparable to IRF-1+/+ and +/- mice. Whereas both CD4+ and CD8+ T cells were found in thyroids of IRF-1+/+ mice, the latter was not in IRF-1-/- mice. Major histocompatibility complex class II antigen was comparably expressed in thyroids of IRF-1+/+ and -/- mice. Lack of IRF-1 resulted in decreased CD8+ T cell number in the spleen and reduced IFNgamma production by splenocytes. Our results suggest that IRF-1 is not pivotal in EAT in NOD mice.     

儿童慢性淋巴细胞性甲状腺炎的诊断探讨

为探讨儿童弥漫性甲状腺肿的简便和精确的诊断方法，对已经细针穿刺细胞学检查和甲状腺自身抗体检测的５０例弥漫性甲状腺肿患儿同时应用Ｂ超进行了甲状腺扫描检查，以１０９名７～１４岁正常儿童的甲状腺超声影像作对比。结果：正常儿童甲状腺的影像为略强于其周围肌肉组织的均匀回声图；弥漫性甲状腺肿患儿的甲状腺体积明显大于正常同龄儿童；细胞学确诊为慢性淋巴细胞性甲状腺炎的２６例中２２例（８４．６％）Ｂ超回声图像呈大小不等的低回声区改变，其中１８例（８１．８％）伴自身抗体阳性；而细胞学诊断为甲状腺弥漫性增生的２４例患儿中则１７例（７０．８％）Ｂ超回声图像正常，仅７例（２９．１％）呈异常回声图，且均伴自身抗体阳性，其中２例１年后细胞学复查证实为慢性淋巴细胞性甲状腺炎。Ｂ超结合自身抗体的检测与细胞学检查的诊断符合率为９２％。提示：Ｂ超作为一种简便易行、无创伤、可反复进行的检查手段，辅以血清学检测，对儿童慢性淋巴细胞性甲状腺炎的诊断有较好的实用价值。     

孕母慢性淋巴细胞性甲状腺炎对婴儿智能发育的影响

目的：探讨孕母患慢性淋巴细胞性甲状腺炎对婴儿的影响。方法：通过浙江省新生儿疾病筛查网络系统，从2001年7月至2003年6月对21例母亲患慢性淋巴细胞性甲状腺炎的婴儿进行随访，观察其甲状腺功能情况，并采用Gesell发育量表对其智能发育进行跟踪调查。结果：21例婴儿中甲状腺功能正常8例，高TSH血症11例，先天性甲低2例，与同期健康母亲的新生儿相比差异有显著性（P〈0．01）；孕母患慢性淋巴细胞性甲状腺炎的婴儿其应物能、应人能、粗动作能、细动作能发育均落后，与健康孕母的婴儿比较，差异有显著性（P〈0．05）。结论：孕母患慢性淋巴细胞性甲状腺炎对婴儿甲状腺功能及智能发育有影响。     

桥本脑病伴帕金森综合征1例并文献复习

目的加深临床对桥本脑病的认识,提高临床诊出率。方法分析1例临床诊断为桥本脑病患者的临床表现、神经系统体征、实验室检查、电生理、影像学资料及治疗效果。结果患者神经系统表现为认知功能下降、帕金森综合征和癫痫发作,脑脊液IgG合成率增高,头MRI颅内多发病灶,脑电图示慢波增多。糖皮质激素治疗有效。结论桥本脑病临床表现多样,还可伴随帕金森综合征,临床上对脑病患者应想到此病的可能性,避免误诊、漏诊。     

为我们的儿童而安全补碘

补碘预防碘缺乏性疾病的益处已不言而喻，但也发生甲状腺毒症和引起甲状腺功能减退症（甲减）的甲状腺炎等不良反应。碘致甲状腺炎以前的证据仅来自实验性研究、病理学检查和横断面流行病学调查。本期发表的滕卫平等在中国轻度碘缺乏、超足量碘补充和碘过量摄取地区的3个人群的研究已证实随着较高的碘摄取，甲状腺自身免疫和亚临床甲减的发病率呈轻度、但已有统计学意义的上升。然而，临床甲减的发病率并未见升高。这些发现再次从临床和公共卫生方面消除了人们的疑虑，证实了补碘方案对人类健康会产生巨大的效益而风险甚小。     

Recurrent deep neck abscess and piriform sinus tract: A 15-year review on the diagnosis and management

Background

Piriform sinus tract (PST) is a rare congenital condition. A delay in diagnosis is common leading to recurrent inflammation.

Method

A retrospective review was performed on all cases of PST treated at a tertiary referral centre between May 1997 and May 2012.

Results

Eighteen patients were reviewed with a mean age of 5.4 years at presentation (ranged from 0 day to 14 years). Most patients presented as acute inflammation (88.9%) and 16 had a left sided lesion. 72.2% of the PST are identified by contrast swallow study. The diagnostic yield was significantly higher if the study was done after the initial acute inflammation settled. Ultrasonography and computer tomography are less sensitive. The median duration from presentation to diagnosis was 17.6 months (ranged 0–120 months). Ten patients (55.6%) experienced recurrent inflammation before confirming the diagnosis. Fistulectomy alone was performed in 15 patients while an additional en-bloc hemithyroidectomy was done in 2 patients.

Conclusion

PST should be suspected in children presenting with a left deep neck abscess. Contrast swallow study is very effective in making diagnosis but has to be postponed after the acute inflammation settles. The condition can be effectively treated by fistulectomy without hemithyroidectomy in majority of our cases.     

Hashimoto’s encephalopathy mimicking presenile dementia

Hashimoto’s encephalopathy (HE), which carries kaleidoscopic clinical presentations, is easily misdiagnosed in clinical practice. Early diagnosis and prompt initiation of steroid therapy are associated with good prognosis. We describe a 50-year-old female patient who had subclinical hypothyroidism and who presented herself with gradual cognitive impairment, accompanied with auditory hallucination and delusion. Increased anti-thyroid antibodies titers were found in her serum and cerebrospinal fluid. The HE diagnosis was confirmed using the laboratory test for anti-thyroid antibodies along with the patient’s clinical presentation. We treated her with steroid pulse therapy, and the results were favorable. We highlight this case to call for early diagnosis and prompt intervention of HE in clinical practice.     

地塞米松联合甲巯咪唑治疗自身免疫性甲状腺炎效果及对T细胞免疫功能、炎性因子影响观察

目的 观察地塞米松联合甲巯咪唑治疗自身免疫性甲状腺炎的效果及对T细胞免疫功能、炎性因子的影响.方法 选取自身免疫性甲状腺炎79例,根据治疗方法 不同将其分为观察组(41例)和对照组(38例)两组.观察组予地塞米松磷酸钠注射液联合甲巯咪唑片治疗,对照组予甲巯咪唑片治疗,疗程均为1个月.观察比较两组治疗后临床效果,治疗前后...