HLA-Ⅱ类基因与大疱性类天疱疮的相关性研究

目的 探讨大疱性类天疱疮(BP)与HLA-Ⅱ类基因的相关性，BP的免疫遗传发病背景。方法 用聚合酶链反应-序列特异性引物寡核苷酸探针(PCR-SSOP)方法对上海地区汉族56例类天疱疮患者和150例健康对照进行了HLA-DRB1、DQA1、DQB1位点等位基因分型。结果 发现HLA-DRB1*1001与DQB1*0501紧密连锁，其基因频率在BP组与对照组比较明显增高，与BP的临床特征黏膜损害正相关，与靶抗原BP230抗体正相关：DRB1*04与DQB1*0302紧密连锁，其基因频率在BP组与对照组比较也明显增高，与靶抗原BP180正相关：DRB1*12基因频率BP组与对照组比较明显降低(P=0．007，RR=0．358)，与BP的年龄因素和对皮质类固醇的治疗反应负相关。结论 DRB1*1001、DRB1*04可能为上海地区BP患者的易感基因，而DRB1*12(*1201，*1202)可能为上海地区汉族BP患者的保护基因。     

大疱性类天疱疮与HLA-DRB1等位基因的相关性研究

目的:探讨山东汉族大疱性类天疱疮(BP)与HLA-DRB1等位基因的相关性.方法:运用聚合酶链反应-序列特异性引物寡核苷酸探针杂交(PCR-SSOP)方法,对山东地区汉族43例BP患者和125名健康对照组进行了HLA-DRB1等位基因分型.结果:BP患者组HLA-DRB1*10和DRB1*11等位基因的出现频率均高于对照组(P值分别为0.040和0.018),但经校正后P值均无显著性差异;HLA-DRB1*11与BP患者黏膜损害相关(P=0.003,Pc<0.05,RR=12.3).结论:大疱性类天疱疮的遗传易感基因可能与HLA-DRB1等位基因无相关性.     

HLA-DRB1等位基因与广东汉族人群甲真菌病的相关性研究

 目的:探讨人类白细胞抗原HLA DRB1等位基因与广东汉族人群甲真菌病的关联性。方法：纳入64例广东汉族甲真菌病患者(包括10例红色毛癣菌甲癣患者)以及64例健康对照者,采用聚合酶链式反应-序列特异性引物（PCR-SSP）技术,对研究对象全血基因DNA进行HLA DRB等位基因分型,比较等位基因频率,分析甲真菌病与HLA基因多态性的关系。结果：甲真菌病患者HLA-DRB1*10基因频率高于健康对照组（ X²=5.10,P<0.05）。红色毛癣菌感染的甲癣患者组HLA DRB1*12基因频率低于健康对照组（  X²=4.70,P<0.05）。结论：HLA-DRB1*10等位基因可能是广东汉族人群甲真菌病遗传易感基因,而HLA-DRB1*12等位基因可能是红色毛癣菌感染的甲真菌病患者的保护性基因,HLA基因多态性与甲真菌病的发生可能存在遗传免疫关联性。     

北方汉族寻常型银屑病与HLA-DRB1及DQB1等位基因相关性研究

目的:探讨HLA-DRB1及DQB1等位基因与北方汉族寻常型银屑病相关性。方法:利用序列特异性引物-聚合酶链反应(PCR-SSP)分型技术,对63例寻常型银屑病患者和102例健康人的HIA-DRB!及DQB1等位基因进行检测。结果:(1)HLA-DRB1*070x、DRB1*1001及DOB`*020x等位基因与北方汉族寻常型银屑病呈正相关(P分别为0.001,0.005,0.009);HLA-DRB1*120x等位基因与北方汉族寻常型银屑病呈负相关(P=0.007)。(2)HLA-DRB1*070x及DQB1*020x等位基因仅与家族史阳性的早发型(Ⅰ型)银屑病发病相关(P<0.001)。(3)HLA-DRBq*1001等位基因频率在Ⅰ型及无家族史的晚发型(Ⅱ型)银屑病均显著性增高(P<0.05)。结论:(1)HLA-DRB1*070x、DRB1*1001及DQB1*020x等位基因可能是北方汉族寻常型银屑病的易感基因或与易感基因相连锁;HLA-DRB1*120x等位基因可能是阻止北方汉族人发生银屑病的保护基因。(2)Ⅰ型及Ⅱ型银屑病的遗传背景存在差异。     

广西地区壮、汉族系统性红斑狼疮与HLA-DRB1等位基因相关性研究

目的：探讨广西地区壮、汉族系统性红斑狼疮(SLE)与HLA-DRB1等位基因的相关性。方法：用聚合酶链式反应一序列特异性引物(PCR-SSP)方法，分别对52例SLE壮族患者和70名壮族健康人，45例SLE汉族患者和60名汉族健康人的HLA-DRB1等位基因进行研究。结果：壮族SLE患者HLA-DRB1^*1401及DRB1^*16两个等位基因的频率低于正常对照组(RR=0．2813，χ^2=5．0024，P=0．0252及RR=0．3889，χ^2=3．9527，P=0．0466)，患者组和对照组均未检出HLA-DRB1^*08、DRB1^*11和DRB1^*13等位基因；汉族SLE患者HLA-DRB1^*15等位基因的频率高于正常对照组(RR=2．5333，χ^2=8．4006，P=0．00371，患者组未检出HLA-DRB1^*11、DRB1^*13等位基因，对照组亦未检出HLA-DRB1^*13等位基因。结论：提示HLA-DRB1^*1401及DRB1^*16等位基因可能是广西地区壮族人SLE的保护基因，未发现易感基因。提示HLA-DRB1^*15等位基因可能是广西地区汉族人SLE的易感基因。     

广西地区汉族婴幼儿脉管性疾病与HLA-DRB1等位基因相关性研究

【摘要】 目的 探讨广西地区汉族婴幼儿脉管性疾病与HLA-DRB1等位基因遗传易感性的关系。 方法 广西地区汉族婴幼儿脉管性疾病145例（血管瘤组99例、脉管畸形组46例）,健康对照组105例。采用聚合酶链反应-序列特异性引物（PCR-SSP）方法对3组HLA-DRB1等位基因进行分型,使用SPSS16.0统计软件分析DRB1基因在3个组中的分布。 结果 DRB1*0901、*1401、*16等位基因在血管瘤组、脉管畸形组、对照组的分布差异均有统计学意义（χ2 = 13.05,P < 0.01;χ2 = 12.79,P < 0.01;χ2 = 10.36,P < 0.01）。进一步在各组间进行两两比较,DRB1*0901等位基因频率在血管瘤组与脉管畸形组间（RR = 4.84,P < 0.01）及血管瘤组与对照组组间（RR = 3.21,P < 0.01）差异均有统计学意义。DRB1*16等位基因频率在血管瘤组与对照组组间（RR = 2.25,P < 0.01）及脉管畸形组与对照组间（RR = 2.60,P < 0.01）差异均有统计学意义。血管瘤组中DRB1*1401等位基因频率显著性低于对照组（RR = 0.30,P < 0.01）。 结论 DRB1*0901等位基因可能为广西地区汉族婴幼儿血管瘤的易感基因,而DRB1*1401等位基因可能是其拮抗基因。HLA-DRB1*16等位基因可能为广西地区汉族脉管性疾病的易感基因。     

中国北方汉族泛发型白癜风与HLA-DRB1等位基因的相关

目的:探讨HLA-DRB1等位基因与中国北方汉族泛发型白癜风的相关性。方法:采用聚合酶链反应-序列特异引物(PCR-SSP)技术检测34例北方汉族泛发型白癜风患者的HLA-DRB1等位基因。结果:与262例正常对照组相比较,泛发型白癜风患者HLA-DRB1*0701/02、DRB1*1201/02基因频率显著增高(Pc<0.0001),HLA-DRB1*0901、DRB1*11基因频率降低(但经校正后Pc>0.05);有明确家族史的患者HLA-DRB1*1201/02基因频率显著增高(Pc<0.0001);无家族史者HLA-DRB1*0701/02基因频率显著升高(Pc<0.0001),DRB1*1201/02基因频率显著增高(经校正后Pc>0.05),DRB1*0901基因频率降低(经校正后Pc>0.05)。结论:中国北方汉族人群,HLA-DRB1*0701/02、DRB1*1201/02等位基因可能与泛发型白癜风的发病有关,而DRB1*0901、DRB1*11等位基因可能是防止其发病的“保护因子”,为进一步揭示泛发型白癜风的易感基因及免疫遗传发病机制提供线索。     

HLA-DRB1基因与慢性荨麻疹的相关性

目的探讨慢性荨麻疹与HLA-DRB1等位基因的相关性。方法采用聚合酶链反应-序列特异性引物方法,检测慢性荨麻疹(CU)患者组144例(汉族64例,壮族80例)和正常对照组199例(汉族95例,壮族104例)的HLA-DRB1等位基因频率,使用SPSS13.0统计软件分析。结果在检测的16个位点中,DRB1*12和*1401等位基因频率在汉族患者组与汉族对照组间差异有统计学意义(Pc<0.001,RR=6.715;Pc<0.001,RR=28.776);DRB1*1401等位基因频率在壮族患者组与壮族对照组间差异有统计学意义(Pc=0.002,RR=4.526)。DRB1*12等位基因频率在汉族患者组与壮族患者组间比较,差异有统计学意义(Pc<0.001)。结论 DRB1*12和*1401等位基因可能与汉族CU有相关性;DRB1*1401等位基因可能与壮族CU有相关性;DRB1基因多态性在汉、壮族间分布有差异。     

山东地区汉族大疱性类天疱疮与HLA-DR,DQB1基因的相关性研究

目的探讨HLA-DR,DQB1位点基因在大疱性类天疱疮(BP)易感性中的作用。方法用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对49例BP患者及70例正常对照者进行了HLA-DR,DQB1等位基因的分型,并分析了上述基因在两组中的分布。结果与正常对照组比较,BP患者组DRB1*10基因频率明显增高(校正P值<0.05);DRB1*04-DQB1*0302连锁体频率、DRB1*10-DQB1*0501连锁体频率在BP组均显著高于对照组;DRB1*04在黏膜损害及大剂量皮质类固醇激素用量组显著增高。结论HLA-DR10(DRB1*10)可能是中国汉族BP的易感基因。DRB1*04-DQB1*0302连锁体、DRB1*10-DQB1*0501连锁体可能为汉族BP的易感连锁体。     

梅毒患者与HLA-DRB1等位基因相关性研究

目的:检测山东汉族梅毒患者与HLA-DRB1等位基因的相关性.方法: 应用聚合酶链反应-序列特异性引物技术(PCR-SSP)对196例山东汉族梅毒患者与500例山东汉族正常对照的HLA-DRB1等位基因表现频率进行检测.结果: 患者组DRB1*14等位基因的出现频率高于对照组(P<0.05);DRB1*16等位基因的出现频率与对照组无显著差异(P>0.05).结论: HLA-DRB1*14等位基因可能是梅毒的易感基因.     

New fillers for the new man

ABSTRACT:  Two new collagen-based lidocaine-containing dermal fillers, ArteSense™/ArteFill™ (Artes Medical, San Diego, CA) and Evolence® (Colbar LifeScience Ltd., Herzliya, Israel), have proved to be of particular interest to men, many of whom seek a long-lasting or permanent correction. ArteFill™ has been available in the United States since 2006, and it is expected that Evolence® will reach the American market in 2008. The properties of the two products will be described, and experience based on the administration of many hundreds of syringes of both products by a Canadian dermatologist will be detailed here, with tips and precautions to optimize patient outcomes.     

Outcomes and adverse effects of ablative vs nonablative lasers for skin resurfacing: A systematic review of 1093 patients

It is generally believed that ablative laser therapies result in prolonged healing and greater adverse events when compared with nonablative lasers for skin resurfacing. To evaluate the efficacy of ablative laser use for skin resurfacing and adverse events as a consequence of treatment in comparison to other modalities, a PRISMA‐compliant systematic review (Systematic Review Registration Number: 204016) of twelve electronic databases was conducted for the terms “ablative laser” and “skin resurfacing” from March 2002 until July 2020. Studies included meta‐analyses, randomized control trials, cohort studies, and case reports to facilitate evaluation of the data. All articles were evaluated for bias. The search strategy produced 34 studies. Of 1093 patients included in the studies of interest, adverse events were reported in a total of 106 patients (9.7%). Higher rates of adverse events were described in nonablative therapies (12.2% ± 2.19%, 31 events) when compared with ablative therapy (8.28% ± 2.46%, 81 events). 147 patients (13.4%) reported no side effects, 68 (6.22%) reported expected, transient self‐resolving events, and five (0.046%) presented with hypertrophic scarring. Excluding transient events, ablative lasers had fewer complications overall when compared with nonablative lasers (2.56% ± 2.19% vs 7.48% ± 3.29%). This systematic review suggests ablative laser use for skin resurfacing is a safe and effective modality to treat a range of pathologies from photodamage and acne scars to hidradenitis suppurativa and posttraumatic scarring from basal cell carcinoma excision. Further studies are needed, but these results suggest that ablative lasers are a superior, safe, and effective modality to treat damaged skin.     

Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas.     

Self‐resolving superficial primary cutaneous mucormycosis in a 7‐week‐old infant

A 7‐week‐old girl, born at 30 weeks' gestational age, presented to clinic for evaluation of a crop of vesicular lesions that were noted after removal of a bandage that had been in place for 4 days. A punch biopsy of the lesion revealed fungal elements that were later identified as Rhizopus spp. The lesion began to self‐resolve, and no further treatment was needed, with full resolution of the lesion by 1 month after presentation. Clinicians should be aware of the variable presentations of mucormycosis and consider fungal infection in the differential diagnosis when evaluating vulnerable patients with skin eruptions.     

Pathogenic role of IL-17 in psoriasis and psoriatic arthritis

Psoriasis is a chronic inflammatory skin disorder resulting from a complex network of cytokines and chemokines produced by various immune cell types and tissue cells. Emerging evidence suggests a central role of IL-17 and IL-23/T17 axis in the pathogenesis of psoriasis, giving a rationale for using IL-17-blocking agents as therapeutics.Three agents targeting IL-17 signaling are being studied in Phase III clinical trials: secukinumab and ixekizumab (IL-17 neutralizing agents), and brodalumab (IL-17 receptor antagonist). Preliminary results are highly promising for all anti-IL17 agents, creating fair expectations on this class of agents as the new effective therapeutic approach for the treatment of psoriasis.