Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund [0.03%]
SYNGAP1相关疾病治疗的推进路线图——SynGAP研究基金（患者组织）的观点
J Michael Graglia,Aaron J Harding,Kathryn A Helde
J Michael Graglia
SYNGAP1-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the SYNGAP1 gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but ...
Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder [0.03%]
TERC突变型端粒生物学障碍患儿骨髓衰竭的首次表现为噬血细胞淋巴组织细胞增多症
Daniel Medina-Neira,Giancarlo Alvarado-Gamarra,Brenda Huamaní-Condori et al.
Daniel Medina-Neira et al.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes a...
WITHDRAWAL - An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent [0.03%]
Withdrawal——一种以亚急性神经精神症状表现为特征的青少年遗传性代谢疾病
[This retracts the article DOI: 10.1177/26330040241290907.]. © The Author(s) 2024.
Retraction of Publication
Therapeutic advances in rare disease. 2024 Dec 26:5:26330040241309151. DOI:10.1177/26330040241309151 2024
Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium [0.03%]
罕见病临床结局评估协会通过罕见病测量取得进展
Naomi Knoble,Lindsey T Murray
Naomi Knoble
There is a significant unmet need to develop and evaluate new treatments for people living with one of approximately 8000 rare diseases. Well-known difficulties in conducting clinical trials (e.g., small samples, wide geographic distributio...
Hutchinson-Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches [0.03%]
Hutchinson-Gilford早老症综合征：揭示遗传基础、症状及治疗进展
Akhil Arun,Athira Rejith Nath,Bonny Thankachan et al.
Akhil Arun et al.
Hutchinson-Gilford Progeria syndrome (HGPS) serves as a prominent model for Progeroid syndromes, a group of rare genetic disorders characterized by accelerated aging. This review explores the genetic basis, clinical presentation, and compli...
Count Me In: patient-partnered research to address disparities for rare cancer patients [0.03%]
携手研治罕见癌症中的医疗不平等问题
Priyanka Bhakhri,Kolbe Phelps,Jorge Gómez Tejeda Zañudo et al.
Priyanka Bhakhri et al.
Background: Approximately 25% of cancer patients are diagnosed with rare cancers and face unique challenges. Decentralized patient-partnered research efforts, like Count Me In provide an avenue for patients to participate...
The MED13L Foundation strategic research plan: a roadmap to the future [0.03%]
MED13L基金会战略研究计划：未来路线图
Rachel Heilmann,Anna Pfalzer,Terry Jo Bichell et al.
Rachel Heilmann et al.
A strategic research plan (SRP) serves as a compass for the patient advocacy organizations driving the therapeutic options for their rare disorder. The MED13L Foundation commissioned the SRP in 2022 through COMBINEDBrain, a consortium of pa...
Gastrointestinal langerhans cell histiocytosis in an adult presenting with anal protrusion and multiple colorectal ulcers: a case report [0.03%]
以肛门脱垂和多发性结肠溃疡为表现的成人胃肠朗格汉斯细胞组织细胞增生症1例报告
Nhu Tung Tran,Quoc Thanh Truong,Khuyen Thi Nguyen et al.
Nhu Tung Tran et al.
Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the proliferation of Langerhans cells, a type of dendritic cell essential for immune response. While LCH predominantly affects children, its manifestation in adults, es...
An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent [0.03%]
以亚急性神经精神症状为表现的青少年遗传性代谢病一例
Sarah Grace Engel,Ali Said Al-Beshri,Amitha Ananth et al.
Sarah Grace Engel et al.
We discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies revealed acute on chronic kidney disease. Additional investigations yielded a tre...
A patient organization perspective: charting the course to a cure for SCN2A-related disorders [0.03%]
患者组织视角：绘制SCN2A相关疾病治愈路线图
Leah F Schust,Jennifer Burke,Christina SanInocencio et al.
Leah F Schust et al.
The SCN2A gene encodes the Nav1.2 protein, a voltage-gated sodium channel crucial for initiating and transmitting action potentials in neurons. Dysfunction in Nav1.2, often stemming from genetic mutations in the SCN2A gene, leads to SCN2A-r...