Warts

  • 文章类型: Journal Article
    背景:口服补充维生素D(VD)作为疣的预防和治疗措施的临床策略需要进一步探索。
    方法:收集2018年2月至2024年6月在重庆医科大学附属儿童医院就诊的皮肤病患者的临床资料。疣患者的血清VD水平(普通疣,扁平疣,和足底疣)和其他常见皮肤病(特应性皮炎,牛皮癣,斑秃,白癜风,和慢性荨麻疹)进行了比较。进行了双样本双向孟德尔随机化(MR)分析,以研究VD和疣之间的潜在因果关系。
    结果:疣患儿的平均血清VD水平为23.27±7.07ng/mL,与其他常见皮肤病患儿相比,差异无统计学意义。逆方差加权(IVW)方法分析表明VD与疣之间存在正的因果关系(赔率比[OR]=1.86,[95%CI:1.19-2.92],p=0.007)。敏感性分析未显示水平多效性或异质性的任何迹象。MR-PRESSO方法没有发现任何异常值。
    结论:与其他常见皮肤疾病的儿童相比,疣患儿的血清VD水平没有明显降低。MR分析的证据表明VD和疣之间存在正的因果关系,提示对于血清VD水平正常或升高的疣患儿,应谨慎补充VD。未来需要进一步的临床研究进行验证。
    BACKGROUND: The clinical strategy of oral supplementation of Vitamin D (VD) as a preventive and therapeutic measure for warts needs further exploration.
    METHODS: The clinical data of patients with skin diseases who visited the Children\'s Hospital affiliated with Chongqing Medical University from February 2018 to June 2024 were collected. The serum VD levels in patients with warts (common warts, flat warts, and plantar warts) and patients with other common skin diseases (atopic dermatitis, psoriasis, alopecia areata, vitiligo, and chronic urticaria) were compared. Two-sample bidirectional Mendelian randomization (MR) analysis was performed to investigate potential causal associations between VD and warts.
    RESULTS: The average serum VD level of children with warts was 23.27 ± 7.07 ng/mL, which showed no statistically significant difference compared to children with other common skin diseases. The inverse variance weighted (IVW) method analysis indicated a positive causal relationship between VD and warts (Odds Ratio [OR] = 1.86, [95% CI: 1.19-2.92], p = 0.007). Sensitivity analysis did not show any indication of horizontal pleiotropy or heterogeneity. The MR-PRESSO method did not identify any outliers.
    CONCLUSIONS: The levels of serum VD in children with warts do not significantly decrease compared to children with other common skin conditions. The evidence from the MR analysis indicates a positive causal relationship between VD and warts, suggesting caution in supplementing VD for children with warts who have normal or elevated serum VD levels. Further clinical studies are needed for validation in the future.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    细胞因子8(DOCK8)缺乏症代表了具有广泛临床症状的原发性免疫缺陷,包括反复感染,atopy,恶性肿瘤风险增加。这项研究提供了一个患有DOCK8缺乏症的6岁女孩的案例,以严重为特征,成功使用西妥昔单抗和糖皮质激素治疗的耐药疱疹感染。siltuximab在缓解中的成功使用突出了白介素-6(IL-6)在DOCK8缺乏发病机制中的关键作用,并表明IL-6调节在管理DOCK8缺乏相关的病毒感染中至关重要。这可能为DOCK8缺陷和类似免疫缺陷的未来治疗策略提供信息。
    Dedicator of cytokinesis 8 (DOCK8) deficiency represents a primary immunodeficiency with a wide range of clinical symptoms, including recurrent infections, atopy, and increased malignancy risk. This study presents a case of a 6-year-old girl with DOCK8 deficiency, characterized by severe, treatment-resistant herpetic infections who was successfully treated with siltuximab and glucocorticoids. The successful use of siltuximab in achieving remission highlights the pivotal role of interleukin-6 (IL-6) in DOCK8 deficiency pathogenesis and suggests that IL-6 modulation can be critical in managing DOCK8 deficiency-related viral infections, which may inform future therapeutic strategies for DOCK8 deficiency and similar immunodeficiencies.
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  • 文章类型: Journal Article
    疣,低丙种球蛋白血症,感染,髓鞘综合征(WHIM)是一种罕见的,联合免疫缺陷病主要由CXCR4基因的功能获得变异体引起,该变异体通常导致C-X-C趋化因子受体4型(CXCR4)羧基末端截短,导致白细胞从骨髓向外周血的流出受损.WHIM综合征的诊断仍然具有挑战性,通常通过临床观察和/或基因检测来进行。在受影响的个体中检测致病性CXCR4变体支持WHIM综合征的诊断,但依赖于对致病变体的适当注释。了解WHIM综合征的基因型-表型相关性有可能缩短诊断时间并指导适当的临床治疗。产生了精准医学的真正例子。本文概述了WHIM综合征中CXCR4变体的频谱,并总结了可以支持新鉴定的变体解释的各种临床和功能证据。
    Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of C-X-C chemokine receptor type 4 (CXCR4) leading to impaired leukocyte egress from bone marrow to peripheral blood. Diagnosis of WHIM syndrome continues to be challenging and is often made through clinical observations and/or genetic testing. Detection of a pathogenic CXCR4 variant in an affected individual supports the diagnosis of WHIM syndrome but relies on an appropriate annotation of disease-causing variants. Understanding the genotypic-phenotypic associations in WHIM syndrome has the potential to improve time to diagnosis and guide appropriate clinical management, resulting in a true example of precision medicine. This article provides an overview of the spectrum of CXCR4 variants in WHIM syndrome and summarizes the various lines of clinical and functional evidence that can support interpretation of newly identified variants.
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  • 文章类型: Journal Article
    人乳头瘤病毒(HPV)疫苗接种代表了性传播感染一级预防的里程碑。然而,对其对已经确定的HPV感染的可能影响知之甚少。我们报道了一个9岁免疫抑制女孩患有难治性疣的病例,成功使用非单价HPV疫苗治疗,并回顾了HPV疫苗对免疫活性和免疫抑制患者中良性HPV诱导的上皮增殖的治疗作用的文献。在文学中,在HPV疫苗接种后的皮肤疣上显示了有希望的结果,尤其是儿童和年轻人,在免疫抑制患者中,而在肛门生殖器疣上发现了有争议的结果。这些发现表明,迫切需要随机临床试验来评估HPV疫苗接种在良性HPV诱导的上皮增殖治疗中的功效。
    Human papillomavirus (HPV) vaccination represents a milestone in primary prevention of sexually transmitted infections. However, little is known about its possible effects on already established HPV infections. We report the case of a 9-year-old immunosuppressed girl with refractory warts, successfully treated with the nonavalent-HPV vaccine and review the literature about the therapeutic effects of HPV vaccination on benign HPV-induced epithelial proliferations in immunocompetent and immunosuppressed patients. In the literature, promising results were shown on cutaneous warts after HPV vaccination, especially in children and young adults, also in immunosuppressed patients, whereas controverse results were found on anogenital warts. These findings suggest a critical need for randomized clinical trials to assess the efficacy of HPV vaccination in the treatment of benign HPV-induced epithelial proliferations.
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  • 文章类型: Journal Article
    CXCR4基因杂合子常染色体显性突变引起WHIM综合征,严重的联合免疫缺陷疾病。突变主要影响CXCR4趋化因子受体的C末端区域,特别是对激动剂(CXCL12)介导的受体内化和脱敏至关重要的几个潜在磷酸化位点。突变受体在细胞表面的停留时间延长,导致过度活跃的信号,这是WHIM综合征的一些症状的原因。最近的研究表明,情况比最初想象的要复杂,由于突变WHIM受体和CXCR4在细胞膜上表现出不同的动力学,这也影响了它们各自的细胞功能。这篇综述探讨了CXCR4的功能机制以及WHIM突变在生理和病理条件下的影响。
    Heterozygous autosomal dominant mutations in the CXCR4 gene cause WHIM syndrome, a severe combined immunodeficiency disorder. The mutations primarily affect the C-terminal region of the CXCR4 chemokine receptor, specifically several potential phosphorylation sites critical for agonist (CXCL12)-mediated receptor internalization and desensitization. Mutant receptors have a prolonged residence time on the cell surface, leading to hyperactive signaling that is responsible for some of the symptoms of WHIM syndrome. Recent studies have shown that the situation is more complex than originally thought, as mutant WHIM receptors and CXCR4 exhibit different dynamics at the cell membrane, which also influences their respective cellular functions. This review examines the functional mechanisms of CXCR4 and the impact of WHIM mutations in both physiological and pathological conditions.
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  • 文章类型: Letter
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  • 文章类型: Case Reports
    由人乳头瘤病毒(HPV)引起的疣通常采用冷冻疗法治疗,CO2激光烧蚀,干扰素注射,和博来霉素注射。然而,有时很难治疗儿童,因为治疗可能很痛苦。此外,治疗后可能复发。在这项研究中,两个孩子服用草药后,疣完全消失了,手的多个部位和指甲周围有疣。两名儿科患者前往医院治疗手指和指甲周围的疣。两名患者均接受Taeeumjowi-tang(TJT)作为汤剂60天。对于11岁的患者每天两次进行TJT,对于7岁的患者每天一次。每月观察患者进展,在访问期间拍摄了疣的视觉状况。经过大约两个月的治疗,疣从两个病人的手指和指甲上消失了。该病例研究表明,口服TJT可能对疣患儿有效。需要进一步的研究来确定这些疗法的有效性和安全性。
    Warts caused by the human papillomavirus (HPV) are generally treated with cryotherapy, CO2 laser ablation, interferon injections, and bleomycin injections. However, it is sometimes difficult to treat children because the treatment can be painful. In addition, recurrence may occur after treatment. In this study, warts completely disappeared following the administration of herbal medicine in two children, with warts in multiple parts of the hands and around the nails. Two pediatric patients visited the hospital for treatment of warts around their fingers and nails. Both patients received Taeeumjowi-tang (TJT) as a decoction for 60 days. TJT was performed twice per day for the 11-year-old patient and once per day for the 7-year-old patient. Patient progress was observed monthly, and the visual condition of the warts was photographed during the visits. After approximately two months of treatment, the warts disappeared from the fingers and nails of both patients. This case study suggests that the oral administration of TJT may be effective for pediatric patients with warts. Further studies are required to determine the efficacy and safety of these therapies.
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