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OBJECTIVES@#To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.@*METHODS@#The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.@*RESULTS@#The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children.@*CONCLUSIONS@#16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.
Assuntos
Humanos , Anticonvulsivantes , Epilepsia/genética , Fenótipo , Estudos Retrospectivos , Convulsões/genéticaRESUMO
Objective:To investigate the influence of meniscus injury on the function of muscles around knee in patients with meniscus injury. Methods:From February, 2017 to February, 2018, the suface electromyography of vastus lateralis (VL), rectus femoris (RF), vastus medialis (VM) and biceps femoris (BF) were recorded and analyzed in 22 patiens with unilateral meniscus injury, during squatting down-standing up test and maximal isometric voluntary contraction at knee flexing 70°. Results:During squatting down-standing up test, the average electromyography (AEMG) of VL and BF was less in affected knee than in unaffected knee (t > 3.945, Z > 3.847, P < 0.001), and the coactivity ratio of hamstrings in affected knee was higher (t > 3.650, P < 0.01). The AEMG of VL, RF, VM and BF was less in affected knee than in unaffected knee (t > 2.907, Z = 4.107, P < 0.01) during maximal isometric voluntary contraction at knee flexing 70°. Conclusion:sEMG can be used to quantitatively evaluate the muscle function around knee for patients with meniscus injury in different motion states. Patients with meniscus injury demonstrate impaired muscular function and altered muscle balance around knee, which need to be corrected during rehabilitation.
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Objective:To investigate the influence of meniscus injury on the function of muscles around knee in patients with meniscus injury. Methods:From February, 2017 to February, 2018, the suface electromyography of vastus lateralis (VL), rectus femoris (RF), vastus medialis (VM) and biceps femoris (BF) were recorded and analyzed in 22 patiens with unilateral meniscus injury, during squatting down-standing up test and maximal isometric voluntary contraction at knee flexing 70°. Results:During squatting down-standing up test, the average electromyography (AEMG) of VL and BF was less in affected knee than in unaffected knee (t > 3.945, Z > 3.847, P < 0.001), and the coactivity ratio of hamstrings in affected knee was higher (t > 3.650, P < 0.01). The AEMG of VL, RF, VM and BF was less in affected knee than in unaffected knee (t > 2.907, Z = 4.107, P < 0.01) during maximal isometric voluntary contraction at knee flexing 70°. Conclusion:sEMG can be used to quantitatively evaluate the muscle function around knee for patients with meniscus injury in different motion states. Patients with meniscus injury demonstrate impaired muscular function and altered muscle balance around knee, which need to be corrected during rehabilitation.
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<p><b>OBJECTIVE</b>To study the clinical effificacy of electroacupuncture (EA) on treating knee osteoarthritis (KOA) of Shen ()-Sui () insuffificiency (SSI) syndrome type.</p><p><b>METHODS</b>A total of 245 patients (279 knees) of KOA-SSI were randomly assigned to two groups by lottery: 141 knees in the treatment group and 138 knees in the control group. The treatment group was managed with EA at the dominant points of Neixiyan (Ex-LE4) and Waixiyan (Ex-LE5) as well as the conjugate points of Xuanzhong (GB39) and Taixi (KI3) for 30 min, once a day, with 15 days as one course; 2 courses were applied with a 5-day interval in between. The control group was treated with intra-articular injection of 2 mL hyaluronic acid into the affected joint every 7 days for 5 times in total. The clinical effects on the patients in different stages were observed, and their symptom scores of knee and contents of cytokines, including interleukin-1 (IL-1), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), prostaglandin E(2alpha) (PGE(2alpha)) and matrix metalloproteinases-3 (MMP-3), in the knee joint fluid were measured before and after treatment.</p><p><b>RESULTS</b>The study was completed in 235 patients (263 knees); four patients (7 knees) in the treatment group and six patients (9 knees) in the control group dropped out. Comparison of therapeutic effects (excellent and effective rates) between the two groups showed insignificant differences (P>0.05). Symptom scores of knee and contents of cytokines in the knee flfluid after treatment were lowered signifificantly in the patients of stage I-III in both groups (P<0.05 or P<0.01). However, the lowering of the total symptom score of knee in the patients of stage III in the treatment group was more signifificant (P<0.05).</p><p><b>CONCLUSIONS</b>EA could effectively alleviate the clinical symptoms in KOA patients of stage III, showing an effect superior to that of hyaluronic acid. EA also shows action in suppressing the secretion of IL-1, IL-6, TNF-alpha, PGE(2alpha) and MMP-3 in the knee flfluid.</p>