MC1R

MC1R
  • 文章类型: Journal Article
    Researchers have found that individuals with red hair often require higher doses of anesthetic medications to achieve the same level of pain relief or sedation compared to people with other hair colors. This review investigates the effects of local and systemic anesthetics in individuals with red hair compared to the general population. Focusing on both local and systemic anesthesia, this research aims to elucidate any distinctive responses or complications among the red-haired demographic. Utilizing a systematic review approach, we analyzed a wide array of previous research papers published over the last two decades to gather relevant data. Our findings suggest that people with red hair may exhibit variations in their response to both local and systemic anesthesia compared to non-red-haired individuals, indicating the necessity for tailored anesthetic approaches in clinical settings. Previous studies have found that individuals with red hair, as well as those with the corresponding melanocortin-1 receptor (MC1R) mutations, exhibit a greater resistance to the effects of systemic and local anesthetics. This review provides valuable insights that could help healthcare professionals optimize anesthetic management and improve patient outcomes, particularly for those with red hair.
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  • 文章类型: Journal Article
    红头发与对疼痛的敏感性改变有关,镇痛药,和催眠。这种改变可能受到黑皮质素-1受体(MC1R)基因变体的影响,主要见于红头发。这篇叙述性综述的目的是探索和呈现关于红头发的知识现状及其与疼痛反应性改变的合理关联,镇痛药,和催眠。PubMed中的结构化搜索,CINAHL完成,和Scopus电子数据库进行。有证据表明,红头发的女性对疼痛的敏感性增加。相反,数据还表明MC1R变体等位基因的纯合携带者具有较高的疼痛耐受性。已经报道了不同的镇痛反应,MC1R变异等位基因纯合携带者的镇痛反应性增加,而红发患者的镇痛作用减少。数据表明红头发对催眠药的需求增加。然而,发现红头发与催眠药反应性改变之间的统计关联的尝试失败也很明显.即使红头发和对疼痛的反应性改变之间似乎存在关联,镇痛药,和/或催眠药,这篇叙述性综述的结果尚无定论。需要对更大的人群和MC1R测试进行进一步的研究。
    Red hair has been linked to altered sensitivity to pain, analgesics, and hypnotics. This alteration may be impacted by variants in the melanocortin-1 receptor (MC1R) gene, which are mainly found in redheads. The aim of this narrative review was to explore and present the current state of knowledge on red hair and its plausible associations with altered responsiveness to pain, analgesics, and hypnotics. Structured searches in the PubMed, CINAHL Complete, and Scopus electronic databases were conducted. Evidence suggests that women with red hair have an increased sensitivity to pain. Conversely, data also indicate a higher pain tolerance in homozygous carriers of MC1R variant alleles. Varied responses to analgesia have been reported, with both increased analgesic responsiveness in homozygous carriers of MC1R variant alleles and less analgesia in redheads. Data indicate an increased need for hypnotics in redheads. However, failed attempts to find statistical associations between red hair and altered responsiveness to hypnotics are also evident. Even though there seems to be an association between red hair and an altered responsiveness to pain, analgesics, and/or hypnotics, the results of this narrative review are inconclusive. Further research studies with larger populations and MC1R testing are needed.
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  • 文章类型: Systematic Review
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  • 文章类型: Journal Article
    A family history of melanoma greatly increases the risk of developing cutaneous melanoma, a highly aggressive skin cancer whose incidence has been steadily increasing worldwide. Familial melanomas account for about 10% of all malignant melanomas and display an inheritance pattern consistent with the presence of pathogenic germline mutations, among which those involving CDKN2A are the best characterized. In recent years, a growing number of genes, such as MC1R, MITF, CDK4, POT1, TERT, ACD, TERF2IP, and BAP1, have been implicated in familial melanoma. The fact that individuals harboring these germline mutations along with their close blood relatives have a higher risk of developing multiple primary melanomas as well as other internal organ malignancies, especially pancreatic cancer, makes cascade genetic testing and surveillance of these families of the utmost importance. Unfortunately, due to a polygenic inheritance mechanism involving multiple low-risk alleles, genetic modifiers, and environmental factors, it is still very difficult to predict the presence of these mutations. It is, however, known that germline mutation carriers can sometimes develop specific clinical traits, such as high atypical nevus counts and specific dermoscopic features, which could theoretically help clinicians predict the presence of these mutations in prone families. In this review, we provide a comprehensive overview of the high- and intermediate-penetrance genes primarily linked to familial melanoma, highlighting their most frequently associated non-cutaneous malignancies and clinical/dermoscopic phenotypes.
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  • 文章类型: Journal Article
    黑皮质素-1受体(MC1R)基因的种系变体是皮肤黑色素瘤(CM)最常见的遗传性状。这里,我们对MC1R基因变异与BRAF体细胞突变频率之间的相关性进行了文献综述和荟萃分析,NRAS,CM患者的TERT基因。我们纳入了直到2020年1月在MEDLINE上发表的研究,EMBASE,OvidMedline,和两个灰色文献数据库。使用随机效应模型将特定研究的估计值汇总为汇总比值比(SOR)和95%置信区间(CI)。进行亚组和敏感性分析,以确定异质性的潜在来源,并评估合并估计的稳健性。2006年至2018年发表的12项研究(涵盖3566厘米,主要在非accal部位)被包括在内。MC1R基因变异与BRAF和NRAS基因的体细胞突变频率没有显着相关。只有三项研究集中在TERT基因启动子的体细胞突变上,所有这些研究都报告了与MC1R种系变异体的中度到强正相关.MC1R基因变异似乎只产生适度的变化,如果有的话,BRAF或NRAS突变CM的风险。与TERT启动子突变的关联提示,然而,它值得确认,因为它是基于仍然有限数量的研究。
    Germline variants of the melanocortin-1-receptor (MC1R) gene are the most common genetic trait predisposing to cutaneous melanoma (CM). Here, we performed a literature review and meta-analysis of the association between MC1R gene variants and the frequency of somatic mutations of the BRAF, NRAS, and TERT genes in CM patients. We included studies published until January 2020 in MEDLINE, EMBASE, Ovid Medline, and two grey literature databases. Random effect models were used to pool study-specific estimates into summary odds ratio (SOR) and 95% confidence intervals (CIs). Subgroup and sensitivity analyses were conducted to identify potential sources of heterogeneity and assess the robustness of pooled estimates. Twelve studies published between 2006 and 2018 (encompassing 3566 CM, mostly on nonacral sites) were included. MC1R gene variants were not significantly associated with the frequency of somatic mutations of the BRAF and NRAS genes. Only three studies focused on somatic mutations of the TERT gene promoter, all of which reported moderate-to-strong positive associations with MC1R germline variants. MC1R gene variants appear to make only moderate changes, if any, to the risk of BRAF- or NRAS-mutant CM. The association with TERT promoter mutations is suggestive, yet it warrants confirmation as it is based on a still limited number of studies.
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  • 文章类型: Journal Article
    BACKGROUND: Vitiligo is one of the most important acquired depigmentation disorders, with an average worldwide prevalence of 0.5-2.0%. The exact etiology of vitiligo is not fully understood, but the principle theories focus on the mechanism responsible for the destruction of melanocytes, which is proposed to be autoimmune, neurogenic, or self-destructive. There is no cure for vitiligo and the results of current treatments vary between individuals, being unsatisfactory in most cases. Despite being a cosmetic disease, the disorder can be psychologically devastating and stigmatizing. Areas covered: In this review, the authors summarize new synthetic drugs for the treatment of vitiligo developed between 2010 and 2015, which include MC1 R agonists and peptides, as well as considering new approaches and strategies using existing drugs. Expert opinion: In conclusion, we found significant advancement in this field of research, demonstrating the growing interest of academic and industrial groups in developing successful products for the treatment of vitiligo. New therapeutic options could contribute to improving the quality of life of patients and advance the search for a truly effective treatment of vitiligo.
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