染色体4q存在中国汉族人的银屑病易感基因

目的：确定在4号染色体长臂上是否存在中国汉族人寻常性银屑病易感基因。方法：用覆盖4号染色体长臂的12个微卫星标记对64个寻常性银屑病家系共372个个体（包括197例患者和175例非患者）进行基因组扫描研究，并用GENEHUNTER软件（2.0 Version)对基因分型结果进行参数和非参数连锁（NPL）分析。结果：（1）非参数连锁分析：两点连锁分析揭示D4S413和D3S1597的NPL值分别为2．04和2．23，对应的P值分别为0．021和0．014；多点连锁分析在染色体155．1－172．3cM的范围NPL值均大于3，在位点D4S413（157．9cM)处NPL值达最高，为3．44，相应的P值为0．00056。（2）参数连锁分析在显性遗传模式下，外显率10％，基因频率0．0062时在D4S1597位点处得出LOD值＝3．70，异质性LOD（HLOD）值＝4．35和较高的连锁家系比例α=85%。结论：染色体4q存在中国汉族人的寻常性银屑病易感基因。     

银屑病家系易感基因定位的研究

目的:探讨银屑病易感基因与第4、6、17号染色体上7个微卫星标记的连锁关系,初步对汉族鲁系银屑病易感基因进行定位研究。方法:选择22个银屑病家系中75例患者和正常人51例。选择7个微卫星标记(STR):D6S276、D6S1610、D4S403、D4S424、D4S415、D17S949、D17S784,利用ABI3730测序仪进行电泳测序,并用与之配套的GeneScan、GeneMapper软件进行基因分型。利用GENEHUNTER软件对STR的基因分型数据进行连锁分析。结果:D17S949、D17S784位点的最大两点LOD值,最大两点NPL值均大于1(P<0.05),提示存在连锁关系。结论:染色体17q23~17q25区域内存在寻常型银屑病易感基因。     

中国汉族人群染色体1q21存在寻常性银屑病易感基因

目的　确定中国汉族人群染色体1q21上是否存在寻常性银屑病易感基因。方法　用覆盖染色体1q21-1q23.1的8个微卫星标记,对36个寻常性银屑病家系共190个个体（包括92例患者,98例正常人;年龄12 ~ 81岁,平均44岁）进行基因组扫描研究,并用ETDT及GENEHUNTER软件进行连锁不平衡分析。结果　GENEHUNTER示D1S2345与银屑病连锁,其非参数连锁（NPL）值为1.735（P = 0.0329）;扩大范围传递不平衡检验（ETDT）示D1S2346的97 bp等位基因与D1S484的283 bp等位基因分别优先传递给患病子代（P < 0.05）。结论 中国汉族人群染色体1q21区存在寻常性银屑病易感基因。     

1q31-32存在新的银屑病易感基因

目的:确定染色体1q是否存在中国汉族寻常型银屑病易感基因位点.方法: 用覆盖染色体1q的12个微卫星标记,对36个寻常型银屑病家系共190个个体(包括92例患者与98例正常亲属)进行基因组扫描研究,并用LINKAGE、ETDT及GENEHUNTER软件进行统计处理.结果:①LINKAGE分析示D1S2891的LOD值为1.0750(θ=0.2),支持连锁;②GENEHUNTER示D1S249、D1S2772和D1S2891的NPL值均大于1.6,相应P<0.05;③ETDT示D1S249 170 bp等位基因和D1S413 258 bp等位基因分别优先传递给正常子代.结论: 中国汉族人1q31-32区存在银屑病易感基因.     

6号染色体上可能存在银屑病易感基因

目的 研究中国人寻常型银屑病与6p21.3区域内的六个微卫星标记和4q上的两个微卫星标记是否连锁,以寻找银屑病易感基因位点。方法 利用选取的微卫星位点作为标记,采用微卫星荧光标记-基因扫描及分型技术,选取205例经确诊并符合寻常型银屑病诊断标准的患者,对其中14个银屑病家系进行连锁分析。结果 在研究的家系中未发现4q上的微卫星标记与银屑病易感基因之间的连锁,而在染色体6p21.3区域存在着与之有连锁关系的微卫星标记位点(在D6S273位点上两点分析最大LOD值为1.26)。结论 本研究表明在中国人银屑病患者中,染色体6p21.3区域可能存在银屑病易感基因。     

红斑、丘疹及鳞屑性皮肤病

20051046 6号染色体短臂存在银屑病易感基因的证据/杨森(安徽医大皮研所、一附院皮肤科),何平平,王再兴…//中华皮肤科杂志.-2004,37(3).-129～132. 采用6号染色体短臂上的8个微卫星标记对46个寻常性银屑病家系共272个个体(包括143个患者和129个非患者)进行基因分型研究,并用Cenehunter软件     

一雀斑家系遗传连锁分析

目的 报道1例雀斑及其三代家系，并对其致病基因进行遗传连锁分析。方法 选取位于4q和1号染色体的微卫星标记对该家系进行致病基因定位研究，用ABI3730测序仪进行微卫星标记的基因分型，利用Linkage软件（5.10 Version）和Cyrillic软件（2.01 Version）进行连锁和单倍型分析。结果 该家系在常染色体显性遗传模式下，外显率为99.9%时，排除该家系与4号染色体的连锁，在1号染色体上的微卫星标记D1S2635和D1S2844处获得可能连锁的证据，最大LOD值为1.50（重组率θ = 0.00）。单倍型分析将该家系可能的致病基因定位在微卫星标记D1S2624和D1S2799之间12 Mb区域内。结论 雀斑存在遗传异质性。在该家系中，本病可能的致病基因存在于染色体1q22-q24的21.2 cM区域内。     

采用微卫星标记法对白癜风易感基因的初步筛查研究

目的：对收集的白癜风38家系183人进行基因精细定位，以期识别白癜风的致病基因。方法：收集白癜风患者及其家系成员的临床资料及血液样本，抽提外周血基因组DNA，选用荧光标记引物及微卫星标记，用Genescan和Genotyper软件进行基因分型，用Linkage软件包进行连锁分析，明确致病基因的区域，并对22q12进行精细定位。结果：发现白癜风致病基因与微卫星标记D22s1163处获得最大连锁值（NPL=2．22，P=0．008，HLOD=1．64，α=53％）。结论：染色体22q12上可能存在广东汉族人的白癌风易戚基呙．     

Marie Unna遗传性稀毛症的遗传异质性

目的对中国汉族人Marie Unna遗传性稀毛症进行基因组精细定位,从而为进一步找到该病的致病基因奠定基础。方法用覆盖8p21的18个微卫星标记对2个家系进行局部基因组扫描,利用Linkage软件(5.10版)和Cyrillic软件(2.02版)进行连锁和单倍型分析。结果家系1在常染色体显性遗传模式、外显率为99.9％时,在8号染色体上的微卫星标记D8S298和D8S1725处获得LODS(连锁分数)为3.01(θ=0.00)；单倍型分析将其定位于D8S282～D8S1839之间的1.1 cM内。家系2的连锁分析排除与8p21连锁。结论 Marie Unna遗传性稀毛症存在遗传异质性。     

银屑病:父性遗传与染色体6P上的位点

遗传因素是银屑病的重要病因之一。至今为止已发现,17号、4号染色体长臂及6号染色体短臂上存在着与本病相关的位点。该文在大样本银屑病家族中,进行了连锁分析,研究了在不同人群中上述3个位点与银屑病易感性之间的关系;同时分析了银屑病早现遗传和亲代性别影响的遗传模式。     

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.