Ichthyosiform Erythroderma, Congenital

鱼鳞状红皮病,先天性
  • 文章类型: Journal Article
    临床决策支持系统(CDS)可以在资源有限的环境中提高儿童疾病综合管理(IMCI)的质量。近年来,已经开发并实施了几种与IMCI相关的CDS。然而,尽管有一个共同的起点,与IMCI相关的CDS在将叙述性指南转换为决策逻辑时需要进行解释,同时考虑上下文和设计选择,因此差异显著.在2019年10月至2021年4月之间,我们对4个IMCI相关的CDS进行了比较分析。对IMCI的适应程度各不相同,但是共同的主题出现了。范围扩大到涵盖更广泛的条件。添加或修改内容以提高精度,与新证据保持一致,支持合理利用资源。结构被修改以提高效率,提高可用性,并优先照顾重病儿童。多利益相关方开发过程涉及现有指南和文献中的建议的综合;临床算法的创建和验证;迭代开发,实施,和评价。围绕IMCI指南调整的共同主题突出了基于证据的建议数字化的复杂性,并加强了利用CDSS开发标准的理由。例如世界卫生组织的SMART指南。通过多方利益攸关方对话的实施对于确保社区发展中心能够有效和公平地提高资源有限环境中儿童的护理质量至关重要。
    Clinical decision support systems (CDSSs) can strengthen the quality of integrated management of childhood illness (IMCI) in resource-constrained settings. Several IMCI-related CDSSs have been developed and implemented in recent years. Yet, despite having a shared starting point, the IMCI-related CDSSs are markedly varied due to the need for interpretation when translating narrative guidelines into decision logic combined with considerations of context and design choices. Between October 2019 and April 2021, we conducted a comparative analysis of 4 IMCI-related CDSSs. The extent of adaptations to IMCI varied, but common themes emerged. Scope was extended to cover a broader range of conditions. Content was added or modified to enhance precision, align with new evidence, and support rational resource use. Structure was modified to increase efficiency, improve usability, and prioritize care for severely ill children. The multistakeholder development processes involved syntheses of recommendations from existing guidelines and literature; creation and validation of clinical algorithms; and iterative development, implementation, and evaluation. The common themes surrounding adaptations of IMCI guidance highlight the complexities of digitalizing evidence-based recommendations and reinforce the rationale for leveraging standards for CDSS development, such as the World Health Organization\'s SMART Guidelines. Implementation through multistakeholder dialogue is critical to ensure CDSSs can effectively and equitably improve quality of care for children in resource-constrained settings.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.
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  • 文章类型: Journal Article
    These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.
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  • 文章类型: Journal Article
    BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology.
    OBJECTIVE: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses.
    METHODS: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached.
    RESULTS: It was agreed that currently the nosology should remain clinically based. \"Syndromic\" versus \"nonsyndromic\" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, \"keratinopathic ichthyosis\"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. \"Autosomal recessive congenital ichthyosis\" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group.
    CONCLUSIONS: As more becomes known about these diseases in the future, modifications will be needed.
    CONCLUSIONS: We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research.
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