Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients [0.03%]
胰酶替代治疗对苯酮尿症成人患者脑磁共振影像及认知的影响：3例报道
Alessandro P Burlina,Renzo Manara,Jessica Carretta et al.
Alessandro P Burlina et al.
Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase enzyme activity that causes high blood phenylalanine levels. Most adults do not adhere to the gold standard therapy: lifelo...
Davide Sparasci,Lenka Schilg-Hafer,Bettina Schreiner et al.
Davide Sparasci et al.
Background and purpose: Infections and vaccinations have been identified as potential immunological triggers of neuralgic amyotrophy (NA), but the exact type and frequency of the preceding agents is unknown. ...
Observational Study
European journal of neurology. 2024 Dec;31(12):e16462. DOI:10.1111/ene.16462 2024
Cholinergic dysfunction in isolated rapid eye movement sleep behaviour disorder links to impending phenoconversion [0.03%]
孤立的快速眼动睡眠行为障碍中的胆碱能功能障碍与即将发生的表型转换有关
Miriam H Terkelsen,Alex Iranzo,Mónica Serradell et al.
Miriam H Terkelsen et al.
Background and purpose: Most patients with isolated rapid eye movement sleep behaviour disorder (iRBD) progress to a parkinsonian alpha-synucleinopathy. However, time to phenoconversion shows great variation. The aim of t...
Impact of elevated lipoprotein(a) levels on the functional outcomes of ischemic stroke patients: A systematic review and meta-analysis [0.03%]
脂蛋白(a)水平升高对缺血性卒中患者功能预后影响的系统评价和meta分析
Huarong Liu,Bo Li,Ting Lu et al.
Huarong Liu et al.
Background and purpose: Elevated serum lipoprotein(a) (Lp[a]) levels have been linked to an increased incidence of stroke. This systematic review and meta-analysis aimed to evaluate the impact of serum Lp(a) on the functi...
Meta-Analysis
European journal of neurology. 2024 Dec;31(12):e16501. DOI:10.1111/ene.16501 2024
Improved diagnostic performance of high-sensitivity cardiac troponins in muscle dystrophies using comprehensive definition criteria for cardiac involvement: A longitudinal study on 35 patients [0.03%]
高敏型心肌肌酸激酶在肌肉营养不良中的诊断性能：一项对35名患者的纵向研究
Mustafa Yildirim,Christian Salbach,Christoph Reich et al.
Mustafa Yildirim et al.
Background and purpose: Sparse information is available on the correct interpretation of elevated high-sensitivity cardiac troponin (hs-cTn) in confirmed muscular dystrophies. ...
Urodynamic study and its correlation with cardiac meta-iodobenzylguanidine (MIBG) in body-first and brain-first subtypes of Parkinson's disease [0.03%]
不同型帕金森病患者尿流动力学检查与心肌 MIBG 显像的相关性研究
Min Seung Kim,Jong Keun Kim,In Hee Kwak et al.
Min Seung Kim et al.
Background and purpose: Lower urinary tract symptoms (LUTS) are frequently observed in patients with Parkinson's disease (PD), but the underlying mechanism remains elusive. The concept of "body-first" and "brain-first" su...
Conclusion [0.03%]
结论
Paul Boon,Elena Moro
Paul Boon
Improved comprehension of influenza-related headaches: Perspectives and suggestions for incidence and prevalence of headache in influenza-Response [0.03%]
改进对流感相关性头痛的认识：关于流感头痛发病率和患病率的观点及建议回复信
David García-Azorín,Laura Santana-López,Ana Ordax-Díez et al.
David García-Azorín et al.
Pelvic autonomic dysfunction is common in patients with pure autonomic failure [0.03%]
自主性失败患者的盆腔自主神经功能障碍常见
E Vichayanrat,C Hentzen,S Simeoni et al.
E Vichayanrat et al.
Background and purpose: Pure autonomic failure (PAF) presents primarily as cardiovascular autonomic failure and may phenoconvert to other neurodegenerative disorders. However, the involvement of other autonomic functions ...
The impact of expiratory muscle strength training on voluntary cough effectiveness in Huntington's disease [0.03%]
呼气肌肉力量训练对亨廷顿舞蹈病患者自主咳嗽效果的影响
Romana Konvalinkova,Martin Srp,Kristyna Doleckova et al.
Romana Konvalinkova et al.
Background and purpose: Dysfunction of the airway defence system in Huntington's disease (HD) is a significant but often overlooked problem. Although expiratory muscle strength training (EMST) is frequently utilized in co...