Andersen-Tawil综合征1例报告并文献复习

目的探讨Andersen-Tawil综合征(ATS)的发病机制及临床特点。方法回顾性分析1例ATS患者的临床表型。结果本例患者男,17岁,表现为低位耳,反复发作运动、饱食或无明显诱因下非对称性肌无力,入院期间肌无力发作时伴血钾降低;动态ECG提示频发室性期前收缩;EMG检查显示复合肌肉动作电位波幅在运动诱发试验运动后即刻上升6%,30 min下降17%,60 min下降25%,90 min下降35%;头颅MRI Flair示左侧额顶叶交界区脑白质内点状高信号影;基因检测(NGS)提示染色体17q24的KCNJ2基因出现错义突变:c.224C>T(p.Thr75Met),诊断为ATS。予补钾治疗后患者肌力恢复正常,出院后继续服用醋钾唑胺片,随访发现患者周期性麻痹的发作频率、严重程度及持续时间明显改善。结论ATS作为一个多系统累积的离子通道病,其临床表现高度变异,临床上要更加关注患者临床表型,从而有利于表型及机制的完善。     

Mitogen‐activated protein kinase phosphatase‐2 deletion modifies ventral tegmental area function and connectivity and alters reward processing

Mitogen‐activated protein kinases (MAPKs) regulate normal brain functioning, and their dysfunction is implicated in a number of brain disorders. Thus, there is great interest in understanding the signalling systems that control MAPK functioning. One family of proteins that contribute to this process, the mitogen‐activated protein kinase phosphatases (MKPs), directly inactivate MAPKs through dephosphorylation. Recent studies have identified novel functions of MKPs in foetal development, the immune system, cancer and synaptic plasticity and memory. In the present study, we performed an unbiased investigation using MKP‐2^?/? mice to assess whether MKP‐2 plays a global role in modulating brain function. Local cerebral glucose utilization is significantly increased in the ventral tegmental area (VTA) of MKP‐2^?/? mice, with connectivity analysis revealing alterations in VTA functional connectivity, including a significant reduction in connectivity to the nucleus accumbens and hippocampus. In addition, spontaneous excitatory postsynaptic current frequency, but not amplitude, onto putative dopamine neurons in the VTA is increased in MKP‐2^?/? mice, which indicates that increased excitatory drive may account for the increased VTA glucose utilization. Consistent with modified VTA function and connectivity, in behavioural tests MKP‐2^?/? mice exhibited increased sucrose preference and impaired amphetamine‐induced hyperlocomotion. Overall, these data reveal that MKP‐2 plays a role in modulating VTA function and that its dysfunction may contribute to brain disorders in which altered reward processing is present.     

Elevated maternal serum-free β-human chorionic gonadotropin (β-hCG) and reduced risk of spontaneous preterm delivery*

Objective: To evaluate the relationship between first and second trimester maternal serum-free β-hCG and the risk of spontaneous preterm delivery (PTD).

Study design: This was a case-control study of women evaluated and delivered at our institution from 2011 to 2015. Spontaneous PTD was defined as delivery before 37 weeks due to spontaneous preterm labor or premature rupture of membranes. Patient with multifetal gestation and those with medically indicated term or PTD were excluded.

Results: Of 877 women meeting the inclusion criteria, 173 delivered preterm and 704 delivered at term, and 8.1% had high free β-hCG in one or both trimesters. High maternal first and/or second trimester free β-hCG (≥95th percentile) was associated with lower rates of PTD. Thirty-two women with high free β-hCG in both first and second trimesters delivered at term. Gestational age at delivery and birth weights were lower in women who did not have high free β-hCG in any trimester. Low free β-hCG (≤5th percentile) in either trimester was not associated with an increased or decreased likelihood of PTD. Logistic regression demonstrated an independent association of high free β-hCG (≥95th percentile) with a reduced likelihood of PTD. Stratified analysis revealed a stronger impact of this association in women with no prior history of PTD.

Conclusions: High free β-hCG, in the absence of risk factors for medically indicated PTD, is associated with a reduced likelihood of spontaneous PTD and may represent a marker indicating lower risk.     

周围性面神经麻痹的针刺时机探析

周围性面神经麻痹是临床常见的多发病,在治疗上多采用针刺治疗,而针刺的时机异同,会直接影响病患的恢复效果。现代医学研究普遍认为,急性期面瘫,面神经炎症,多发生水肿,不应尽快针刺治疗;而针灸临床多数报道表明,早期给予针刺,能有效提高临床有效率。因此,对于针刺时机则需进一步加强其标准化。本文则主要通过对近几年文献的检索,探索最佳针刺时机在面神经麻痹中的临床应用。     

中文版慢性荨麻疹生活质量问卷（CU-Q2oL）信效度验证

【摘要】 目的 检验中文版慢性荨麻疹生活质量问卷（CU-Q2oL）的信效度。方法 翻译英文原版CU-Q2oL以及回译和文化调试，确定中文版CU-Q2oL的条目。2019年1 - 12月对北京大学第一医院皮肤性病科就诊的195例慢性自发性荨麻疹伴或不伴慢性诱导性荨麻疹患者每2周进行1次随访，随访时填写CU-Q2oL、皮肤病生活质量指数问卷（DLQI）以及1周疾病活动度问卷评分（UAS7），共随访2次。每次随访后，医生依据患者病情为每例患者调整治疗方案。通过探索性因子分析，提取问卷因子数目，并通过分析CU-Q2oL与DLQI、UAS7的相关性判断聚合效度，通过计算Cronbach α系数检测CU-Q2oL的内在一致性信度；通过分析UAS7的变化量与CU-Q2oL评分变化量的相关系数判断CU-Q2oL的敏感度。结果 自中文版CU-Q2oL问卷中提取出4个因子，分别为“症状”、“日常功能活动”、“睡眠问题”及“限制”因子，共23个条目，累计方差贡献率为74.011%。CU-Q2oL所有条目的Cronbach α系数为0.961，4个因子Cronbach α系数为0.804 ~ 0.933，提示极好的内部一致性。CU-Q2oL问卷总分和DLQI评分、UAS7分别呈中度相关，相关系数分别为0.437、0.560（均P＜0.01）。71例患者参与第2次随访，CU-Q2oL问卷总分变化量与UAS7评分变化量呈中度相关，相关系数为0.392（P＜0.01）。结论 中文版CU-Q2oL具有极好的内部一致性信度和良好的信效度，可用于评估我国慢性自发性荨麻疹患者的生活质量。     

Safety evaluation of adverse events following vaccination with Havrix,Engerix-B or Twinrix during pregnancy

BackgroundVaccination of pregnant women against hepatitis A virus (HAV) or hepatitis B virus (HBV) may benefit the mother and the fetus but is not routinely recommended. However, the risk associated with vaccination should be weighed against the risk of HAV or HBV infection. Data on safety profiles after hepatitis A, B or combined AB immunization during pregnancy are limited.MethodsWe searched the GSK Worldwide Safety Database for adverse events (AEs) following immunization of pregnant women with HAV (Havrix, GSK), HBV (Engerix-B, GSK) or the combined hepatitis AB (Twinrix, GSK) vaccine since market authorization through 31 January 2018, covering at least 25 years. AE reports (spontaneous, post-marketing surveillance and clinical trial cases) in the GSK Worldwide Safety Database were identified using a systematic search and were reviewed by clinicians to ascertain pregnancy status at time of vaccination and characterize adverse pregnancy outcomes, including pregnancy-related AEs and AEs in infants regardless of the causality assessment.ResultsOverall, 613, 700 and 363 pregnancies with exposure to Havrix, Engerix-B and Twinrix, respectively, were reported. Of these, 378, 339 and 194 were analyzed. The most frequently identified pregnancy outcomes were live infants (288, 223 and 151), spontaneous abortions (43, 57 and 26) and elective terminations (25, 24 and 9). A total of 19, 29 and 10 cases of congenital anomalies were reported. Of these, 17, 20 and 7 were major birth defects. The most commonly reported pregnancy-related AE and AE in infants were premature delivery (28) and jaundice (11), respectively. No maternal deaths were reported. Congenital anomalies were reported in all recorded infant deaths.ConclusionsThis review did not indicate any concerning pattern of adverse pregnancy outcomes following exposure to any of the 3 vaccines during pregnancy.