BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.Th...BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.The child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic discharges.This distinctive observation had not surfaced in earlier studies.CASE SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from birth.Cold,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never normalized.Percussion myotonia was observable in bilateral biceps.Myotonia symptoms remained unchanged after potassium-rich food consumption like bananas.Hyperkalemic periodic paralysis was excluded.Cranial magnetic resonance imaging yielded normal results.Blood potassium remained within normal range,while creatine kinase showed slight elevation.Exome-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917G>A(p.G1306E).After a six-month mexiletine regimen,symptoms alleviated.CONCLUSION In this case revealed the two types of myotonic discharges,and had not been documented in other studies.We underscore two distinctive features:Giant-amplitude potentials and irregular waves.展开更多
目的:探索术前盆底肌电生理参数对前列腺癌术后尿失禁风险的预测价值。方法:选择2020年1月至2022年10月在北京大学第一医院泌尿外科行根治性前列腺切除术患者的病例资料进行回顾性分析,记录患者的年龄、体重指数(body mass index,BMI)...目的:探索术前盆底肌电生理参数对前列腺癌术后尿失禁风险的预测价值。方法:选择2020年1月至2022年10月在北京大学第一医院泌尿外科行根治性前列腺切除术患者的病例资料进行回顾性分析,记录患者的年龄、体重指数(body mass index,BMI)、国际前列腺症状评分(international prostate symptom score,IPSS)、前列腺特异性抗原(prostate-specific antigen,PSA)水平、Gleason评分、手术方式、是否尿道功能重建、是否淋巴结清扫、性神经是否保留、留置导尿时间、D’Amico风险分级、美国麻醉医师协会(American Society of Anesthesiologists,ASA)评分、查尔森(Charlson)合并症指数、术后随访时间、前列腺体积,以及盆底肌电生理参数(前静息均值、快肌均值和慢肌均值)。通过多因素Logistic回归分析,筛选出影响术后早期尿失禁发生的独立危险因素,并通过计算受试者工作特征曲线(receiver operating characteristic,ROC)下面积,评估盆底肌电参数的预测效能,再利用约登指数(Youden index)并结合临床意义,共同确定术后早期尿失禁发生的最佳临界值。结果:纳入患者271例,术后自主控尿率为81.9%。患者快肌评分为23.5(18.2,31.6)分,慢肌评分为12.5(9.6,17.3)分,179例(66.1%)患者未保留性神经,110例(40.6%)患者进行了尿道功能重建。高龄和盆底快肌评分低被确认为尿失禁发生的独立危险因素。≤60岁患者是≥70岁患者自主控尿率的5.482倍(95%CI:1.532~19.617,P<0.05);患者的盆底快肌评分与尿失禁恢复的关系密切(OR=1.209,95%CI:1.132~1.291,P<0.05)。当术前盆底快肌评分的最佳临界值设定为18.5分时,ROC的敏感度和特异度分别为80.6%和61.2%。结论:术前盆底肌电生理参数对于前列腺癌术后尿失禁风险表现出较好的预测准确性和临床应用性,能够用于前列腺癌术后尿失禁风险的早期识别,其中年龄和盆底快肌评分是重要的预测因子。展开更多
文摘BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.The child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic discharges.This distinctive observation had not surfaced in earlier studies.CASE SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from birth.Cold,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never normalized.Percussion myotonia was observable in bilateral biceps.Myotonia symptoms remained unchanged after potassium-rich food consumption like bananas.Hyperkalemic periodic paralysis was excluded.Cranial magnetic resonance imaging yielded normal results.Blood potassium remained within normal range,while creatine kinase showed slight elevation.Exome-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917G>A(p.G1306E).After a six-month mexiletine regimen,symptoms alleviated.CONCLUSION In this case revealed the two types of myotonic discharges,and had not been documented in other studies.We underscore two distinctive features:Giant-amplitude potentials and irregular waves.
文摘目的:探索术前盆底肌电生理参数对前列腺癌术后尿失禁风险的预测价值。方法:选择2020年1月至2022年10月在北京大学第一医院泌尿外科行根治性前列腺切除术患者的病例资料进行回顾性分析,记录患者的年龄、体重指数(body mass index,BMI)、国际前列腺症状评分(international prostate symptom score,IPSS)、前列腺特异性抗原(prostate-specific antigen,PSA)水平、Gleason评分、手术方式、是否尿道功能重建、是否淋巴结清扫、性神经是否保留、留置导尿时间、D’Amico风险分级、美国麻醉医师协会(American Society of Anesthesiologists,ASA)评分、查尔森(Charlson)合并症指数、术后随访时间、前列腺体积,以及盆底肌电生理参数(前静息均值、快肌均值和慢肌均值)。通过多因素Logistic回归分析,筛选出影响术后早期尿失禁发生的独立危险因素,并通过计算受试者工作特征曲线(receiver operating characteristic,ROC)下面积,评估盆底肌电参数的预测效能,再利用约登指数(Youden index)并结合临床意义,共同确定术后早期尿失禁发生的最佳临界值。结果:纳入患者271例,术后自主控尿率为81.9%。患者快肌评分为23.5(18.2,31.6)分,慢肌评分为12.5(9.6,17.3)分,179例(66.1%)患者未保留性神经,110例(40.6%)患者进行了尿道功能重建。高龄和盆底快肌评分低被确认为尿失禁发生的独立危险因素。≤60岁患者是≥70岁患者自主控尿率的5.482倍(95%CI:1.532~19.617,P<0.05);患者的盆底快肌评分与尿失禁恢复的关系密切(OR=1.209,95%CI:1.132~1.291,P<0.05)。当术前盆底快肌评分的最佳临界值设定为18.5分时,ROC的敏感度和特异度分别为80.6%和61.2%。结论:术前盆底肌电生理参数对于前列腺癌术后尿失禁风险表现出较好的预测准确性和临床应用性,能够用于前列腺癌术后尿失禁风险的早期识别,其中年龄和盆底快肌评分是重要的预测因子。
