1.Effect of Electroacupuncture on Genu Recurvatum after Stroke
Wei-jun GONG ; Ao-ran YANG ; Hai-shan GAI
Chinese Journal of Rehabilitation Theory and Practice 2015;21(7):834-837
Objective To observe the effects of electroacupuncture on genu recurvatum after stroke. Methods 80 stroke patients with genu recurvatum were randomly assigned to treatment group (n=40) and control group (n=40). The control group accepted routine rehabilitation, and the treatment group accepted electroacupuncture at Yanglingquan (GB34), Futu (ST32), Weizhong (BL40), Chengshan (BL57) and Zusanli (ST36) in addition, for 30 days. The incidence of effectiveness was compared between groups. All the patients were assessed with range of motion (ROM) of knee and Fugl-Meyer Assessment of lower limbs (FMA) before and after treatment. Results The incidence of effectiveness was 72.5% in the treatment group, which was more than 55% in the control group (P<0.05). The ROM and score of FMA improved more in the treatment group than in the control group (P<0.05). Conclusion The electroacupuncture can promote the recovery of genu recurvatum after stroke.
2.Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1
Yingji LI ; Yang LIU ; Rongfei WANG ; Ran AO ; Feng XIANG ; Xu ZHANG ; Xiangqing WANG ; Shengyuan YU
Journal of Movement Disorders 2024;17(3):282-293
Objective:
Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods:
First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.
Results:
We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset.
Conclusion
Changes in flexibility and local polar contacts may be indicators of NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.