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...
Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions [0.03%]
先天性无痛无汗症的文献综述及干细胞治疗干预的倡导
Muhammad Ikrama,Muhammad Usama,Muhammad Hassan Haider et al.
Muhammad Ikrama et al.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder affecting the autonomic nervous system, leading to an inability to feel pain, temperature, or sweat1. This condition is caused by mutations in the NTRK1 gene...
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings [0.03%]
FGF3基因缺陷所致听神经解剖异常与迷路发育不全、先天小耳畸形和恒齿小型化综合征相关：两兄弟姐妹植入脑干听觉假体的启示
Johan H M Frijns,Roos M G S Geerders,Esther Scholing et al.
Johan H M Frijns et al.
Here, we describe two congenitally deaf male siblings with the same compound heterozygotic, likely pathogenic mutations in the FGF3 gene, associated with the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Both children had ...
Stephanie Prince,Emily Bonkowski,Christopher McGraw et al.
Stephanie Prince et al.
Coalition to Cure CHD2 (CCC) is a patient advocacy group dedicated to improving the lives of those affected by CHD2-related disorders (CHD2-RD) by increasing education, building community, and accelerating research to uncover a cure. CHD2 i...
Erratum to "Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials" [0.03%]
关于“以患者倡导者为主导的国际联盟适应因地制宜的结果测量方法以确保在临床试验中有意义地纳入罕见病患者”的勘误通知
[This corrects the article DOI: 10.1177/26330040241249762.]. © The Author(s), 2024.