过敏反应过程中的DNA甲基化表观遗传学调控机制

DNA甲基化是一种不改变DNA序列,但基因表达却发生了可遗传改变的重要表观遗传学修饰.研究发现,DNA甲基化异常可能在过敏反应的发生过程中起重要作用,但研究并不能清楚地解释异常的甲基化模式在疾病中发挥的生物学作用.常见过敏反应或疾病发病过程中的DNA甲基化调控机制,如特应性皮炎、接触性皮炎、荨麻疹、食物过敏等,以进一步理解过敏反应发生过程中的基因调控机制及基因-环境相互作用关系.此外,DNA甲基化的研究可能为过敏反应的预防、诊断和管理提供新的方向.     

PTPN22基因多态牲与系统性红斑狼疮研究进展

系统性红斑狼疮（SLE）是一种多因素疾病，其发病机制至今尚未明确。有研究表明，遗传易感性在疾病发生中起重要作用。PIPN22（蛋白酪氨酸磷酸酶非受体型22）基因作为SLE的遗传标记是一个很好的候选基因，该基因位于染色体1p13．2，编码淋巴样特异性磷酸酶，有证据表明SLET细胞酪氨酸磷酸化异常，促进了T细胞效应器功能紊乱，最终导致SLE发病。研究PTPN22基因在SLE中的作用，对探讨SLE发病机制及基因靶向治疗具有一定意义。     

DNA甲基转移酶在SLE表观遗传中的作用

SLE的表观遗传学研究显示,DNA低甲基化状态在SLE发病机制中具有重要作用.DNA甲基转移酶是DNA甲基化反应的催化剂,是干预DNA甲基化状态的重要物质.DNA甲基转移酶的转录水平和括性受启动子表位修饰、信号传导与转录激活因子3、肿瘤抑制基因p53、转录因子家族Sp蛋白、甲基化CG序列结合蛋白等多种因素调控.狼疮患者DNA甲基转移酶的表达与活性降低,并与T淋巴细胞DNA低甲基化发生机制相关.探讨DNA甲基转移酶在SLE表观遗传学发病机制中的作用通路,揭示SLE表观遗传学的调控机制,将为SLE治疗提出新的治疗方案.     

miRNAs在白癜风治疗靶点中的研究进展

白癜风(vitiligo)是一种常见的后天性色素脱失性皮肤黏膜疾病,发病机制尚不清楚,可能与免疫、感染、氧化应激等因素相关。白癜风目前容易诊断,难以治愈。miRNAs是转录后调节基因表达的小型非编码RNA分子,是各种细胞过程(如细胞生长、分化、凋亡和免疫反应)的基本调节器。多项研究发现,miRNAs及其靶基因在白癜风发生发展中起着重要作用,并提出这些miRNAs可通过调控自身免疫、内质网应激、氧化应激及细胞因子来影响疾病进展,可作为白癜风治疗的靶标。本文就近年来miRNAs及其靶基因在白癜风中的研究进展进行综述,以期为白癜风的靶向治疗提供新的思路。     

银屑病相关 miRNAs 表达的研究进展

微RNA（miRNAs）是一种大小约18～25个核苷酸的非编码小分子 RNA,具有调控基因表达的作用,参与细胞增殖、分化、凋亡、发育等多种生物学过程,是疾病发生的总“开关”。近年来研究发现多种miRNA在银屑病皮损组织和血浆中有异常表达,是银屑病发生、发展过程中重要的调控因素。本文就这些特异性miRNAs与银屑病发病机制的关系以及在银屑病早期诊断和治疗中的应用做一综述。     

PTPN22基因多态性与系统性红斑狼疮研究进展

系统性红斑狼疮(SLE )是一种多因素疾病,其发病机制至今尚未明确.有研究表明,遗传易感性在疾病发生中起重要作用.PTPN22(蛋白酪氨酸磷酸酶非受体型22)基因作为SLE的遗传标记是一个很好的候选基因,该基因位于染色体1p13.2,编码淋巴样特异性磷酸酶,有证据表明SLE T细胞酪氨酸磷酸化异常,促进了T细胞效应器功能紊乱,最终导致SLE发病.研究PTPN22基因在SLE中的作用,对探讨SLE发病机制及基因靶向治疗具有一定意义.     

系统性红斑狼疮表观遗传学机制研究新进展

系统性红斑狼疮(SLE)是一种严重威胁人类健康的自身免疫性疾病,其发生和发展过程涉及遗传因素和诸多环境因素.近年研究表明多种表观遗传机制的异常参与了SLE的发病机制.表观遗传学是指在核苷酸序列不发生改变的前提下,基因发生了稳定的可遗传的变化,最终导致表型的改变.DNA甲基化、组蛋白修饰是最主要的表观遗传调控方式,而MicroRNA在表观遗传调控中也扮演了重要的角色.该文就SLE表观遗传学机制研究的最新进展进行综述.     

斑秃的遗传易感基因研究进展

斑秃是一种由多基因遗传决定、多种环境因素作用引起的以器官特异性免疫损害为特征的疾病,其病因与发病机制尚不明确.随着遗传学研究的进展,对斑秃的发病机制有了新的认识,遗传易感性可能是该病发生的重要因素之一.本文仅就近年来斑秃的遗传流行病学及其易感基因的研究现状作一综述.     

银屑病基因-基因交互作用研究进展

全基因组关联研究发现,对基因-基因交互作用在银屑病发病中的研究取得了积极进展,增进了对银屑病遗传学发病机制的认识。目前,银屑病基因-基因交互作用主要集中在主要组织相容性复合体易感区域和IL23／Thl7信号通路。主要组织相容性复合体区域是最早被发现而且是银屑病发病机制中最重要的易感区域。研究表明,其与内质网氨基肽酶1（ERAPl）基因、抑半胱氨酸蛋白酶蛋白A（CSTA）基因、LCE基因簇及染色体19p13区域（PSORS6）等存在相互作用。白介素23／Thl7是一个与慢性炎症性疾病发病密切相关的重要通路,研究发现其中的多个基因在银屑病发病中存在交互作用。     

Caspase-3、Survivin与皮肤肿瘤

凋亡,也称程序化细胞死亡,是细胞进化过程中高度保守、受机体严密调控、在特定时空中发生的细胞"自杀"现象.随着对凋亡的不断深入研究,人们越来越清楚地认识到,细胞凋亡受阻可能是肿瘤发病机制之一.[1]近年来,对凋亡基因及其与肿瘤发生发展的研究已经取得了一定的进展,本文仅就有关Caspase-3、Survivin与皮肤肿瘤方面的研究论述如下.     

腋臭患者腋区顶泌汗腺的分布特点

【摘要】 目的 检测腋臭患者腋区顶泌汗腺在深度、广度的分布,探讨其范围内的分布差异性。 方法 2010年9 - 12月间的15例腋臭患者,行直视下顶泌汗腺剪除术,切取切口处宽约2 mm的全层皮肤,深度达腋浅筋膜浅层,用于判明顶泌汗腺分布的深度。留取腋中心（点1）、距腋中心1 cm（点2）、距腋毛边缘内1 cm（点3）、腋毛边缘（点4）、距腋毛边缘外1 cm（点5）共5个标记点对应的皮下暗红色粗大的颗粒状组织,用于判明顶泌汗腺的分布范围及分布规律。 结果 顶泌汗腺分泌部主要分布于真皮网状层和皮下脂肪浅层,表皮层、真皮乳头层及腋浅筋膜浅层均无顶泌汗腺分布。顶泌汗腺广度分布与腋毛范围基本一致,腋中心部可见大量顶泌汗腺组织,腋毛边缘处仍有少量顶泌汗腺分布,腋毛边缘外1.0 cm处已无顶泌汗腺分布。5个点顶泌汗腺面积占整块组织面积的百分比平均值分别为74.1%、46.6%、25.3%、2.1%和0,相邻两点进行t检验,点1、2之间t = 29.78,P < 0.01;点2、3之间t = 9.76,P < 0.01;点3、4之间t = 20.83,P < 0.01;点4、5之间t = 1.96,P > 0.05。 结论 手术治疗腋臭时,清除范围深度达真皮网状层和浅层脂肪层,广度到腋毛范围即可,没有必要过度扩大清除范围。     

不累及腋臭手术部位的间擦疹型手足综合征一例国际首报

【摘要】 患者女,25岁,因手足、腋下和腹股沟红斑水疱伴疼痛反复1个月就诊。7年前患者因腋臭双腋下曾行小切口汗腺切除术。1个月前因颈部滑膜肉瘤（ⅡB期）术后行多柔比星脂质体化疗,3次化疗期间,出现手足、腋下和腹股沟红斑水疱伴疼痛,皮损逐次加重。皮肤科检查：双手掌、足跖及腋下、腹股沟等间擦部位可见大片水肿性红斑,边界较清楚,上有粟粒至黄豆大小水疱,可见糜烂;皮疹处皮温高,触痛明显,尼氏征阳性;双腋下行小切口腋臭手术的部位无皮损,无疼痛。腋下皮损组织病理检查：基底层下水疱形成及部分汗腺坏死。诊断：多柔比星脂质体相关间擦疹型手足综合征。根据该病例合并腋臭手术史,手术部位皮肤正常,推测该病发病机制可能为药物经汗腺排泄到皮肤后诱发的皮肤毒性反应。     

Minimally Invasive Surgery for Axillary Osmidrosis Using a Combination of Subcutaneous Tissue Removal and a 1,444-nm Nd:YAG Laser

Many treatment modalities have been developed for axillary osmidrosis. It is well known that the surgical treatment has the best results. However, there is a high possibility of side effects. The 1,444-nm lipolysis laser has been recently introduced to remove the apocrine glands. So far, subdermal coagulation treatment with a 1,444-nm Nd:YAG laser may be the least invasive and most effective therapy for axillary osmidrosis. However, according to our previous experience, the recurrence rate was 20%~30%. This emphasizes the need for combination of surgical method and non-surgical method and we combined subcutaneous tissue removal and photothermocoagulation with a 1,444-nm Nd:YAG laser. Three patients for bilateral axillary osmidrosis were enrolled. After an incision of about one-third the length of the widest transverse diameter, the apocrine glands were separated from the skin. And then apocrine glands within the marked area were destroyed by irradiation with a 1,444-nm Nd:YAG laser thereafter. All patients exhibited no relapse of axillary osmidrosis and were satisfied with the treatment results. A combination of subcutaneous tissue removal and Interstitial laser photothermocoagulation with a 1,444-nm Nd:YAG laser could be an effective treatment for mild to moderate axillary osmidrosis.     

Local injection of botulinum toxin A: An alternative therapy for axillary osmidrosis

The objective of this study was to investigate the efficacy of local injection of botulinum toxin A for treating axillary osmidrosis. One hundred and fifty patients with axillary osmidrosis were randomly divided to receive botulinum toxin A injection treatment (50 U of botulinum toxin A was injected intracutaneously into 6–20 different sites within each axilla, n = 74) or surgical excision of the apocrine glands (n = 76). The patients were followed up for 1–3 months to analyze the therapeutic effect and complications of the two methods. The curative effect in patients with mild and moderate axillary osmidrosis was not significantly different between the botulinum toxin A injection group and operation group. However, for patients with severe axillary osmidrosis, surgery treatment seemed to be superior to botulinum toxin A treatment (P = 0.005). There was also no significant difference in the modified Dermatology Life Quality Index between the two treatments. Two cases showed complications related to hemorrhage and incision infection in the operation group. In conclusion, local injection of botulinum toxin A is a safe, fast and effective treatment for mild and moderate axillary osmidrosis, but the long‐term effect remains to be further investigated.     

ERAP1基因与银屑病的相关性研究进展

银屑病是一种免疫介导的慢性炎症性皮肤病,遗传因素在发病中起重要作用。ERAP1基因现已被证实为银屑病的易感基因,目前研究发现ERAP1基因分子的功能与银屑病的发病相关,ERAP1基因与其他银屑病易感基因、环境因素之间的交互作用可能参与银屑病发病,其基因型可能影响银屑病患者的临床表型(发病年龄、发病严重程度、皮损类型、伴发疾病、家族史等)。     

Arthroscopic shaver with refinement for axillary osmidrosis

Background Minimal invasive treatment with liposuction‐curettage for axillary osmidrosis has lead to clinical improvement with lower risk of complications. The incidence of skin necrosis and hematoma in the literature is very limited. Recently, arthroscopic shaver has been used for the treatment of osmidrosis with better efficacy, but associated with variable degrees of complications. Objective To evaluate clinical effect and complication from arthroscopic shaver with preservation of fibrovascular cords. To our knowledge this modification has not been previously described. Method Thirty patients were recruited during a 1‐year‐period for the treatment of axillary malodor. Incision was made for the arthroscopic shaver and subcutaneous fibrovascular cords were carefully preserved. We evaluated the clinical efficacy (excellent, good, fair, and poor), complications, and subsequent recurrences. Results Among patients receiving the arthroscopic shaving for axillary osmidrosis, 93% of the patients had achieved excellent to good results, 7% with fair result and none had poor clinical efficacy. None of the patient had any skin necrosis or recurrences during clinical follow up. Conclusion Arthroscopic shaving for axillary osmidrosis has been associated with variable complication rates. Our experience has indicated that preservation of fibrovascular cords protected epidermis from necrosis and such refinement will allow for more optimal clinical result and lower complications.     

Brachial plexus injury after microwave-based treatment for axillary hyperhidrosis and osmidrosis

Axillary hyperhidrosis combined with osmidrosis is a common problem, especially in Asian communities, that patients find annoying. Even though several surgical techniques have been reported to treat hyperhidrosis/osmidrosis permanently, patients would prefer a non-surgical approach. A microwave-based device was invented during this decade, and it has proven to be a safe and efficient way to treat axillary hyperhidrosis/osmidrosis without major complications. Mild complications reported are vacuum-associated marks, oedema, tenderness and temporary altered skin sensation. We herein report a rare case of brachial plexus injury with sensory and motor dysfunction that occurred after microwave-based treatment. The patient did not fully recover after 6 months of rehabilitation. Our case suggests that a lower initial energy level should be used for thin patients with less fat tissue on the underarm areas, regardless of the patient’s sex.     

小切口皮下修剪联合腔镜下点灼治疗腋臭

【摘要】 目的 观察小切口皮下修剪+腔镜下点灼法治疗腋臭的临床效果与并发症的预防。方法 采用小切口皮下修剪+腔镜下点灼法治疗腋臭患者85例并术后回访6-24月。结果 85例患者中,治愈64例,有效16例,无效5例,总有效率为94.12％。结论 小切口皮下修剪+腔镜下点灼法治疗腋臭具有疗效好,复发率低,手术并发症少等优点,值得临床推广应用     

肿胀麻醉下微切口负压抽刮法治疗腋臭110例

目地 探讨一种微创、有效、安全的腋臭治疗方法。方法 沿腋毛分布边缘标记手术区域,应用肿胀麻醉技术分两层注入肿胀液,分步骤交叉置入抽指针、放射状负压抽刮术区治疗腋臭,术区加压固定。结果 自2009年4月至2010年7月共收治110例,随访3-18个月,总有效率为100％ 。结论 本法操作简单,效果确切,恢复快,术后基本不留皮肤疤痕,值得推广应用。