Evaluation of quality of life and risk factors affecting quality of life in adolescent idiopathic scoliosis [0.03%]
青少年特发性脊柱侧弯患者生活质量的评估及其影响因素分析
Jing Han,Qintong Xu,Yi Yang et al.
Jing Han et al.
Adolescent idiopathic scoliosis (AIS) is a common disease leading to spinal deformity in children ages 10 and over. With advances in the study of health-related quality of life (HRQoL), greater attention has been given to the quality of lif...
Current research on pediatric patients with bronchiolitis obliterans in Brazil [0.03%]
巴西儿童闭塞性细支气管炎患者的研究现状
Silvia Onoda Tomikawa,Joaquim Carlos Rodrigues
Silvia Onoda Tomikawa
Bronchiolitis obliterans (BO) is a rare but severe disease, characterized by inflammation and fibrosis of the terminal bronchioles. BO in children usually occurs after a severe lung viral infection. Diagnosis is based on clinical history of...
Ahmad H Ali,Elizabeth J Carey,Keith D Lindor
Ahmad H Ali
Primary sclerosing cholangitis (PSC) is a progressive disease of the liver characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts, leading to fibrosis and ultimately liver failure, cirrhosis and an incre...
Parent-delivered touchscreen intervention for children with fragile X syndrome [0.03%]
针对脆性X综合征儿童的触屏干预父母培训项目
María Díez-Juan,Andrea Schneider,Tiffany Phillips et al.
María Díez-Juan et al.
The use of touchscreen applications for the iPad(®) allows children with disabilities to improve their personal autonomy and quality of life. In light of this emerging literature and our clinical experience with toddlers and children with ...
Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases [0.03%]
成瘾物质可能诱发脆弱X综合征相关的震颤共济失调症的快速神经恶化：两例报告
Zukhrofi Muzar,Patrick E Adams,Andrea Schneider et al.
Zukhrofi Muzar et al.
A debilitating late-onset disorder of the premutation in the FMR1 gene is the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS). We report two patients with FXTAS who have a history of substance abuse (opiates, ...
Distribution of AGG interruption patterns within nine world populations [0.03%]
九个人群中AGG终止密码子插入多态性的分布规律研究
Carolyn M Yrigollen,Stefan Sweha,Blythe Durbin-Johnson et al.
Carolyn M Yrigollen et al.
The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences...
Participation of underrepresented minority children in clinical trials for Fragile X syndrome and other neurodevelopmental disorders [0.03%]
参与fragile x综合征及其他神经精神发育障碍临床试验的少数族裔儿童
Tasleem Chechi,Salpi Siyahian,Lucy Thairu et al.
Tasleem Chechi et al.
The purpose of this study was to identify demographic data, motivational factors and barriers for participation in clinical trials (CTs) at the University of California Davis, MIND Institute. We conducted a cross-sectional survey in 100 par...
Reymundo Lozano,Carolina Alba Rosero,Randi J Hagerman
Reymundo Lozano
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abn...
Tatiana M Kazdoba,Prescott T Leach,Jill L Silverman et al.
Tatiana M Kazdoba et al.
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of FXS can include impaired cognition, anxiety, hyperactivity, social pho...
Serotonin dysregulation in Fragile X Syndrome: implications for treatment [0.03%]
脆性X综合征的血清素失调节：治疗意义
Alicia C Hanson,Randi J Hagerman
Alicia C Hanson
Fragile X Syndrome (FXS) is a trinucleotide repeat disorder that results in the silencing of the Fragile X Mental Retardation 1 gene (FMR1), leading to a lack of the FMR1 protein (FMRP). FMRP is an mRNA-binding protein that regulates the tr...