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Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures03:07

Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures

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Here, we describe the modified treatment methods for wasting marmoset syndrome (WMS, also known as inflammatory bowel disease (IBD)-like disease) with tranexamic acid. We also present how to administer the therapeutic agents orally, subcutaneously, and...
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Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems05:47

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

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This article describes RUGGED (Retrieval Under Graph-Guided Explainable disease Distinction), which integrates Large Language Model (LLM) inference with Retrieval-Augmented Generation (RAG). It draws evidence from expert-curated biomedical knowledge bases and peer-reviewed biomedical publications to synthesize new knowledge from up-to-date information, identify explainable and actionable predictions, and pinpoint promising directions for hypothesis-driven...
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A short clinical examination protocol is presented to aid in the detection of classical and atypical scrapie in sheep and...
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A computational protocol, CaseOLAP LIFT, and a use case are presented for investigating mitochondrial proteins and their associations with cardiovascular disease as described in biomedical reports. This protocol can be easily adapted to study user-selected cellular components and...
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The objective of the described protocol is twofold: to configure a network functions virtualization environment using unmanned aerial vehicles as computational entities providing the underlying structure to execute virtualized network functions and to use this environment to support the automated deployment of a functional internet protocol telephony service over the aerial...
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Protein Networks02:26

Protein Networks

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An organism can have thousands of different proteins, and these proteins must cooperate to ensure the health of an organism. Proteins bind to other proteins and form complexes to carry out their functions. Many proteins interact with multiple other proteins creating a complex network of protein interactions.
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Updated: Jan 20, 2026

Author Spotlight: Developing a Safer and More Efficient Treatment Protocol for Wasting Marmoset Syndrome (WMS)
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Phelan-McDermid症候群における知識、サポート、およびネットワーキング：研究プロトコル

Luca Colnaghi1,2, Giulia Villa3, Ilaria Marcomini3

  • 1Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

MethodsX
|January 19, 2026
PubMed
まとめ

イタリアにおけるPhelan-McDermid症候群（PMS）のケアは断片的である。この研究は、介護者のニーズを理解し、公平なサポートを改善するための国家登録簿を開発するために、介護者を関与させるものである。

キーワード:
非公式介護者全国疾患登録簿参加型研究Phelan-McDermid症候群希少疾患

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Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
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Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

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科学分野:

  • 遺伝学と希少疾患
  • 神経発達障害
  • 介護者サポート

背景:

  • Phelan-McDermid症候群（PMS）は、染色体22q13.3欠失またはSHANK3遺伝子変異に関連する希少な神経発達障害である。
  • 影響を受けた個人は、知的障害、自閉症の特徴、痙攣、およびその他の健康問題を経験し、生涯にわたる多分野にわたるケアが必要である。
  • イタリアにおける現在のPMSケアは断片的であり、家族に大きな負担をかけている。

研究 の 目的:

  • イタリアにおけるPMS患者の非公式介護者の経験と満たされていないニーズを探求する。
  • イタリア初のPMS国家登録簿を設立するためのデータを収集する。
  • 公平で調整されたPMSケアのためのサービスマップの開発に情報を提供する。

主な方法:

  • 遺伝的に確認されたPMS患者の非公式介護者が関与する全国的な参加型市民科学研究。
  • 介護の課題、ニーズ、および対処メカニズムを調査するための半構造化オンラインインタビューを利用した質的段階。
  • 収集されたデータは、縦断的登録簿の作成に情報を提供する。

主要な成果:

  • イタリアのPMS介護者が直面する特定のニーズと課題に関する新しい証拠。
  • イタリア初のPMS国家登録簿の設立。
  • ケアの連携とサポートを導くためのサービスマップの開発。

結論:

  • 介護者のニーズに対処することは、Phelan-McDermid症候群のケアを改善するために不可欠である。
  • 国家登録簿とサービスマップは、ケアの公平性と連携を強化できる。
  • PMSの影響を受けている家族にとって、国家介護者ネットワークの強化は不可欠である。