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Metabolomic biomarkers and altered phenylalanine metabolic pathway in preschool children with atopic dermatitis - A pilot study. 特应性皮炎学龄前儿童的代谢组生物标志物和苯丙氨酸代谢途径的改变--一项试点研究。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-31 DOI: 10.25259/IJDVL_1125_2023
Jia Yu, Ting Chen, He Zhou, Sujun Li, Bo Wu, Ying Xiong

Background Atopic dermatitis (AD) has high prevalence in children. Current AD diagnosis and management focuses only on clinical phenotypes, but do not explore the endophenotypes, which are more important because they are a series of biomarkers linking clinical phenotype and genotype Aims Metabolomics can qualitatively and quantitatively capture real-time dynamic changes in a wide range of small molecule metabolites. This pilot study evaluated metabolomics biomarkers and altered metabolic pathways in preschool children with AD, aiming to explore the underlying molecular mechanisms and signalling pathways of the disease. Methods Blood samples of 23 preschool children with AD and 23 healthy children without AD or any other skin disease were collected. The untargeted metabolomic measurements were performed on a SCIEX-AD ultraperformance liquid chromatography system coupled with an AB SCIEX X500B QTOF system. Characteristics of small molecules in AD children were assessed and their associations with AD clinical index were evaluated. Altered metabolic pathways in AD children were also analysed using a comprehensive metabolomics platform. Results A total of 1,969 metabolites were identified, of which AD children exhibited 377 significantly altered metabolites. Multivariate statistical analysis demonstrated that the AD group and the control group could be clearly separated. Volcano plot analysis illustrated that 144 metabolites were up-regulated and 233 metabolites were down-regulated in AD children. The Severity Scoring of Atopic Dermatitis (SCORAD index) showed a moderate-to-strong association with estrogens, carotenes, leukotrienes, flavonols and keto acids in AD children (|r|=0.440-0.557). Several pathways, including the phenylalanine metabolism, were identified as altered in AD children. Limitations A small group of children was included in the study; the results need to be validated in larger sample sizes. Conclusion Results of this study illustrate potential alterations in metabolites and the phenylalanine metabolic pathway in preschool children with AD. Although this is a pilot study with a limited sample size, it may provide a new perspective for exploring the pathogenesis of AD, and for personalised treatment modalities.

背景 特应性皮炎(AD)在儿童中发病率很高。目前,特应性皮炎的诊断和管理只关注临床表型,而没有探索内表型,而内表型是连接临床表型和基因型的一系列生物标志物,因此更为重要。 目的 代谢组学可以定性和定量地捕捉各种小分子代谢物的实时动态变化。本试验研究评估了学龄前AD患儿的代谢组学生物标志物和代谢途径的改变,旨在探索该疾病的潜在分子机制和信号通路。方法 收集23名患有AD的学龄前儿童和23名未患有AD或其他皮肤病的健康儿童的血液样本。在 SCIEX-AD 超高效液相色谱系统和 AB SCIEX X500B QTOF 系统上进行了非靶向代谢组学测量。评估了AD儿童体内小分子的特征,并评价了它们与AD临床指数的关联。此外,还利用综合代谢组学平台分析了AD患儿体内发生改变的代谢途径。结果 共鉴定出 1,969 种代谢物,其中 377 种代谢物发生了显著变化。多变量统计分析表明,AD 组和对照组可以明显区分开来。火山图分析表明,AD 儿童中有 144 种代谢物上调,233 种代谢物下调。特应性皮炎严重程度评分(SCORAD指数)显示,AD患儿体内的雌激素、胡萝卜素、白三烯、黄酮醇和酮酸与特应性皮炎严重程度评分(SCORAD指数)存在中强关联(|r|=0.440-0.557)。在AD儿童中,包括苯丙氨酸代谢在内的一些途径发生了改变。局限性 本研究只纳入了一小部分儿童;研究结果需要在更大样本量中进行验证。结论 本研究结果表明,AD 学龄前儿童体内的代谢物和苯丙氨酸代谢途径可能发生改变。虽然这是一项样本量有限的试验性研究,但它可能为探索注意力缺失症的发病机制和个性化治疗方法提供一个新的视角。
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引用次数: 0
Multiple subcutaneous nodules with delayed developmental milestones in a child. 多发性皮下结节伴发育迟缓的儿童。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-30 DOI: 10.25259/IJDVL_1395_2023
Subhajit Sadhukhan, Anupama Bains, Daisy Khera, Divya Aggarwal
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引用次数: 0
Palmoplantar keratoderma with honeycombing: A case of loricrin keratoderma with heterozygous frameshift mutation in LOR gene, from India. 伴有蜂窝组织的掌跖角化症:印度一例伴有 LOR 基因杂合框移突变的 Loricrin 角皮病病例。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-30 DOI: 10.25259/IJDVL_327_2024
Bushra Muna, Pavani Neerukonda, Srikanth Shanmugam
{"title":"Palmoplantar keratoderma with honeycombing: A case of loricrin keratoderma with heterozygous frameshift mutation in LOR gene, from India.","authors":"Bushra Muna, Pavani Neerukonda, Srikanth Shanmugam","doi":"10.25259/IJDVL_327_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_327_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ribociclib induced vitiligo-like lesions. Ribociclib诱发的白癜风样病变。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-30 DOI: 10.25259/IJDVL_239_2024
Rohit Kothari, H S Darling, Anuj Bhatnagar, Manasa Janney, Shilpa Mohan, Rahul Kumar
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引用次数: 0
Asteatotic eczema following paclitaxel and carboplatin chemotherapy for lung carcinoma. 肺癌紫杉醇和卡铂化疗后的骨化性湿疹。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-30 DOI: 10.25259/IJDVL_569_2024
Tejas Vishwanath, Sunanda Arun Mahajan, Prachi Vinayak Gole, Mugdha Kulkarni
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引用次数: 0
Comparative study of the efficacy of azathioprine, dapsone, and NB-UVB phototherapy as steroid-sparing modalities in generalised lichen planus. 硫唑嘌呤、地塞米松和 NB-UVB 光疗作为类固醇保留疗法对泛发性扁平苔藓疗效的比较研究。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-03 DOI: 10.25259/IJDVL_383_2023
Mithra S, Parimalam Kumar, Sowmiya R

Background Generalised lichen planus (GLP) is a chronic disease with an overall prevalence of 1% requiring longer treatment. Limited studies are available on GLP and its treatment in the literature, unlike oral lichen planus. Objective To determine the best steroid-sparing treatment modality for GLP by comparing the efficacy, response, safety, side effects, and remission with azathioprine, dapsone, and narrowband UV-B (NB-UVB) along with their impact on itching severity and life quality. Methodology Open-label, prospective, comparative, interventional study on generalised lichen planus patients treated with systemic steroids along with one of three steroid-sparing modalities. Totally 90 patients were studied including 30 patients each who received azathioprine (Group A), dapsone (Group B), and narrow band UVB (NB-UVB) (Group C), respectively, for 16 weeks. Itch severity index (ISI) and Dermatology life quality Index (DLQI) were assessed at baseline and week 24. All patients received oral prednisolone until there was no more active disease. Response was assessed in terms of occurrence of new lesions, flattening of lesions, post-inflammatory hyperpigmentation (PIH), and grading of lesions two weeks once for 6 months followed by six months of follow-up after treatment completion. Results Females outnumbered males in all 3 groups. Mean patient ages (34, 38, and 34) and the presence of one or more co-morbidities (50%, 42.3%, 37.5%) in Groups A, B, and C, respectively, were comparable. ISI and DLQI improvement at 24 weeks were greatest with NB-UVB, followed by azathioprine and dapsone in that order; the differences in improvement between groups showed high statistical significance. At week 24, occurrence of new lesions (0%, 0%, 3.8%), flattening (100% - all groups), PIH (100% - all groups), grade 3 lesions i.e. poor response, resolution of 20-50% of lesions (7.1%, 11.5%, 0%), grade 2 lesions i.e. partial response, resolution of 50-90% of lesions (35.7%, 76.9%, 8.3%) and grade 1 lesions i.e. complete response, resolution of >90% lesions (57.1%, 11.5%, 91.3%) were noted in Groups A, B and C, respectively; the differences in the extent of resolution of lesions between the groups were highly significant statistically. Remission was seen in 100%, 76.9%, and 87.5% in Groups A, B, and C, respectively, after six months. Limitations The sample size was small. Only 3 treatment options were compared in this study but many more options have been used for lichen planus. Long term follow-up is required. Conclusions NB-UVB with oral steroids showed a better response in terms of improvement in DLQI, ISI, disease control, and side effects than azathioprine and dapsone. Azathioprine showed a faster response and more prolonged remission. Dapsone showed poor response with multiple side effects.

背景 泛发性扁平苔藓(GLP)是一种慢性疾病,总发病率为 1%,需要较长时间的治疗。与口腔扁平苔藓不同,有关 GLP 及其治疗的文献研究有限。目的 通过比较硫唑嘌呤、达帕松和窄带紫外线-B(NB-UVB)的疗效、反应、安全性、副作用和缓解情况,以及它们对瘙痒严重程度和生活质量的影响,确定治疗 GLP 的最佳类固醇保留治疗方式。方法 对全身性扁平苔藓患者进行开放标签、前瞻性、比较性、干预性研究,患者在接受全身性类固醇治疗的同时,还接受了三种类固醇治疗方法中的一种。共对 90 名患者进行了为期 16 周的研究,其中包括分别接受硫唑嘌呤(A 组)、达帕松(B 组)和窄带紫外线(NB-UVB)(C 组)治疗的各 30 名患者。在基线和第 24 周评估瘙痒严重程度指数(ISI)和皮肤病生活质量指数(DLQI)。所有患者均口服泼尼松龙,直至病情不再活跃。根据新皮损的出现、皮损变平、炎症后色素沉着(PIH)和皮损的分级来评估反应,两周一次,持续 6 个月,治疗结束后随访 6 个月。结果 3 组患者中女性均多于男性。A 组、B 组和 C 组患者的平均年龄(34 岁、38 岁和 34 岁)以及合并一种或多种疾病的比例(50%、42.3% 和 37.5%)相当。24 周时,NB-UVB 的 ISI 和 DLQI 改善幅度最大,其次依次是硫唑嘌呤和达帕松;组间改善幅度的差异具有高度统计学意义。第 24 周时,出现新皮损(0%、0%、3.8%)、扁平化(100% - 所有组)、PIH(100% - 所有组)、3 级皮损即不良反应,20%-50% 的皮损得到缓解(7.1%、11.5%、0%)、2 级皮损即部分反应,50%-90% 的皮损得到缓解(35.A 组、B 组和 C 组分别出现了 1 级病变,即完全反应,>90% 的病变得到缓解(57.1%、11.5%、91.3%)。六个月后,A 组、B 组和 C 组的缓解率分别为 100%、76.9% 和 87.5%。局限性 样本规模较小。本研究只比较了三种治疗方案,但有更多的方案被用于扁平苔藓的治疗。需要长期随访。结论 NB-UVB 联合口服类固醇在改善 DLQI、ISI、疾病控制和副作用方面的反应优于硫唑嘌呤和达帕松。硫唑嘌呤的反应更快,缓解时间更长。而他泼松的反应较差,并伴有多种副作用。
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引用次数: 0
A de novo case of ankyloblepharon, ectodermal defects, cleft lip/palate syndrome with TP63 mutation diagnosed prenatally. 一例产前诊断为 TP63 基因突变的无脑畸形、外胚层缺损、唇腭裂综合征新发病例。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-01 DOI: 10.25259/IJDVL_152_2024
Sirisha Varala, Surekha Challa, Nagu Gugulothu, Venkata Krishna Ananthula, Rajeev Singh Thakur
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引用次数: 0
Asymptomatic, extensive brownish macules and patches on the lower abdomen and legs. 无症状,下腹部和腿部出现大面积褐色斑丘疹和斑块。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-01 DOI: 10.25259/IJDVL_396_2024
Kyung Ho Lee, Joo Ho Jeong, Yoon-Seob Kim
{"title":"Asymptomatic, extensive brownish macules and patches on the lower abdomen and legs.","authors":"Kyung Ho Lee, Joo Ho Jeong, Yoon-Seob Kim","doi":"10.25259/IJDVL_396_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_396_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serpentine and annular presentation of extragenital lichen sclerosus-morphea overlap. 蛇形和环形表现的眶外硬皮病-褥疮重叠。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-01 DOI: 10.25259/IJDVL_1317_2023
Divya Bhatia, Anupama Bains, Vikarn Vishwajeet
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引用次数: 0
Cutaneous angiosarcoma presenting as erythematous plaques and diffuse facial swelling in an elderly man. 一名老年男性出现红斑和弥漫性面部肿胀的皮肤血管肉瘤。
IF 3.2 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-08-01 DOI: 10.25259/IJDVL_439_2024
Apoorva Sharma, Keshavamurthy Vinay, Davinder Parsad, Srinivasa G Y, Debajyoti Chatterjee
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引用次数: 0
期刊
Indian Journal of Dermatology Venereology & Leprology
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