Pain and Health: Sex-Specific Differences From a Survey Study of Adults With Arthrogryposis Multiplex Congenita [0.03%]
疼痛与健康：先天性多发关节曲症成人患者中的性别差异（一项调查研究）
Jaclyn Megan Sions,Maureen Donohoe,Claire Elizabeth Vallery et al.
Jaclyn Megan Sions et al.
Arthrogryposis Multiplex Congenita (AMC), a rare congenital condition characterized by joint contractures in two or more body regions, is often accompanied by pain. Understanding pain and its relationship to health outcomes among adults wit...
Upper Extremity Entrapment Neuropathies in Adults With Arthrogryposis Multiplex Congenita: A National Database Study [0.03%]
先天性多发关节挛缩症成人患者上肢卡压性神经病变：一项基于全国数据库的研究
Adam Boukind,Andrea Biaggi-Ondina,Aidin R T Apte et al.
Adam Boukind et al.
Adults with arthrogryposis multiplex congenita (AMC) experience lifelong disability from joint contractures, yet susceptibility to upper extremity compressive neuropathy remains unevaluated. Using the TriNetX US Collaborative Network, we id...
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer [0.03%]
以胸膜重建和子宫内膜癌为表现的迈尔氏综合征（Myhre syndrome）的死后诊断病例报告
Jeanette Saffir,Karee Morgan,Karigynn Chaimson et al.
Jeanette Saffir et al.
Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling...
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education [0.03%]
国际关节挛缩症联盟：早期发现、护理、研究和教育的合作框架
Shahrzad Nematollahi,Noa Bouzaglo,Victoria Castillo Sanchez et al.
Shahrzad Nematollahi et al.
Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over ...
Apical Ectodermal Ridge Disruption and Hypoplastic Digits in Amyoplasia [0.03%]
顶外胚层 ridge 损伤与 amyoplasia 中的指(趾)发育不良的关系
Amanda Stutman,Natalie Williams,Sarah Nossov et al.
Amanda Stutman et al.
The cause of Amyoplasia remains controversial, with the predominant theory being loss of anterior horn cells secondary to vascular disruption as the primary insult. Disruption of the apical ectodermal ridge (AER) is extremely rare, occurrin...
Caring for Pediatric Clients With Arthrogryposis Multiplex Congenita: The Development of an Occupational Therapy Continuing Education Course [0.03%]
关爱先天性多发关节挛缩症儿童客户：职业治疗继续教育课程的开发
Amy Sitabkhan,April Cowan,Amy Boyd et al.
Amy Sitabkhan et al.
Occupational therapy practitioners (OTPs) are vital members of the multidisciplinary team involved in caring for pediatric clients diagnosed with arthrogryposis multiplex congenita (AMC). However, a shortage of educational resources on AMC ...
The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway - A Description of Demographic, Medical, and Neurological Findings [0.03%]
挪威成人多发性先天性关节挛缩症的解释研究：人口统计学、医学和神经病学特征描述
My Vuong Hermansen,Kristin Ørstavik,Unni Steen et al.
My Vuong Hermansen et al.
Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents ...
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research [0.03%]
MYHRE 综合征的分子和发育基础的研究进展及实验台研究
Camille Viaut,Valerie Cormier-Daire
Camille Viaut
Myhre syndrome (MS) is a connective-tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deaf...
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance [0.03%]
迈尔综合征的妄想特征：扩大神经精神监护的证据
Mariz Ebuen,Vasudevan Krishnan,Kathleen Irby et al.
Mariz Ebuen et al.
Myhre syndrome is a rare genetic disorder caused by pathogenic variants in SMAD4. The neurocognitive profile may include intellectual disability and developmental delay across a wide spectrum of domains. Four individuals with Myhre syndrome...
Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita [0.03%]
先天性多关节挛缩症儿童和成人患者脊柱受累情况
Alicia Mom,Véronique Bourg,Shenhao Dai et al.
Alicia Mom et al.
This was a single-center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment an...