原发性免疫缺陷病和脊髓性肌萎缩症临床特点及新生儿早期联合筛查实践

原发性免疫缺陷病(PID)及脊髓性肌萎缩症(SMA)均是由基因突变引起的能严重影响儿童健康甚至导致死亡的遗传性出生缺陷,早期发现和及时诊断治疗是影响预后的关键,新生儿筛查是目前实现早期诊断和干预的有效手段。近年来部分国家和地区已将SMA和PID中最为严重的重症联合免疫缺陷病(SCID)和最常见的B细胞缺乏症X连锁无丙种球蛋白血症(XLA)纳入新生儿筛查范围。浙江省在国内首次开展对SCID、XLA和SMA三种遗传性疾病的新生儿早期联合筛查实践,极大地提高了筛查效率,使出生缺陷三级预防关口前移,有助于显著改善患者的预后、提高生活质量、降低死亡率。     

制何首乌的炮制方法探索

目的:考察黑豆汁炖制时间对制何首乌外观性状及各类有效成分含量变化规律的影响。方法:采用HPLC同时测定不同炮制时间制何首乌样品中二苯乙烯苷、大黄素、大黄素甲醚、大黄素-8-O-β-D-葡萄糖苷、大黄素甲醚-8-O-葡萄糖苷的含量,选择Agilent ZORBAX Extend-C_(18)色谱柱(4. 6 mm×250 mm,5μm),甲醇(A)-水(B)为流动相梯度洗脱(0～30 min,5%～100%A; 30～40 min,100%A),流速1. 0 mL·min~(-1),柱温35℃,检测波长280 nm。结果:随炖制时间的增加,二苯乙烯苷含量逐渐降低,与8 h时相比,至64 h时含量降低76%;大黄素-8-O-β-D-葡萄糖苷和大黄素甲醚-8-O-葡萄糖苷2种蒽醌苷含量先上升后下降,至24 h时达最高值,炖制40 h时降至与8 h近似的水平,之后略有波动;大黄素、大黄素甲醚2种蒽醌苷元含量先上升后下降,炖制32 h时达最大值,之后缓慢降低并趋于稳定。结论:炖制时间对制何首乌中各类成分含量的影响显著,且变化趋势不尽相同,应规范制何首乌饮片的炮制时间;同时,仅以二苯乙烯苷及蒽醌类成分作为制何首乌的指标性成分依据不够充分,应考虑增加多糖类等质量控制指标。     

不同介入方案治疗急性下肢静脉血栓的临床效果与安全性比较

目的 探讨不同介入方案治疗急性下肢静脉血栓(DVT)的临床效果与安全性。方法 选取我院2015年1月～2019年12月介入科收治的急性DVT患者54例作为研究对象,按照治疗方式的不同分为研究组27例和对照组27例。研究组采用血管腔内综合治疗,对照组采用导管介导溶栓治疗,比较两组患者疗效评价、治疗前后膝上、下15 cm与患肢周径差、治疗前后皮肤肿胀张力、静脉通畅率、住院时间和并发症发生情况。结果 经治疗后研究组患者膝上、下15 cm与患肢周径差均短于对照组(P0.05);经治疗后研究组患者皮肤肿胀张力恢复程度显著优于对照组(P0.05);经治疗后研究组患者静脉通畅率显著高于对照组(P0.05);研究组治疗有效率显著高于对照组(P0.05);研究组患者住院时间明显少于对照组,且其并发症发生率显著低于对照组(P0.05)。结论 血管腔内综合介入治疗能够有效改善患者下肢症状,提高DVT恢复情况,降低并发症的发生,从而有效提高患者生活质量,为临床治疗DVT提供重要参考。     

B cell and B cell-related pathways for novel cancer treatments

B cells are recognized as the main effector cells of humoral immunity which suppress tumor progression by secreting immunoglobulins, promoting T cell response, and killing cancer cells directly. Given these properties, their anti-tumor immune response in the tumor micro-environment (TME) is of great interest. Although T cell-related immune responses have become a therapeutic target with the introduction of immune checkpoint inhibitors, not all patients benefit from these treatments. B cell and B cell-related pathways (CCL19, −21/CCR7 axis and CXCL13/CXCR5 axis) play key roles in activating immune response through humoral immunity and local immune activation via tertiary lymphoid structure (TLS) formation. However they have some protumorigenic works in the TME. Thus, a better understanding of B cell and B cell-related pathways is necessary to develop effective cancer control. In this review, we summarize recent evidences regarding the roles of B cell and B cell-related pathways in the TME and immune response and discuss their potential roles for novel cancer treatment strategies.     

左上侧切牙Ⅲ型牙内陷牙髓及牙周联合治疗1例

本文报告1例因牙齿根面畸形导致严重根尖病变及牙周破坏的牙周牙髓联合病变的左上侧切牙,瘘道长期不愈,腭侧窄而深牙周袋,严重根尖病变及牙槽骨垂直吸收。通过显微根管治疗、根尖手术、引导牙周组织再生术治疗,实现了控制根尖及牙周感染,达到了保留患牙的目的。     

Combined liver–kidney transplantation versus liver transplant alone based on KDIGO stratification of estimated glomerular filtration rate: data from the United Kingdom Transplant registry – a retrospective cohort study

Patient selection for combined liver–kidney transplantation (CLKT) is a current issue on the background of organ shortage. This study aimed to compare outcomes and post‐transplant renal function for patients receiving CLKT and liver transplantation alone (LTA) based on native renal function using estimated glomerular filtration rate (eGFR) stratification. Using the UK National transplant database (NHSBT) 6035 patients receiving a LTA (N = 5912; 98%) or CLKT (N = 123; 2%) [2001–2013] were analysed, and stratified by KDIGO stages of eGFR at transplant (eGFR group‐strata). There was no difference in patient/graft survival between LTA and CLKT in eGFR group‐strata (P > 0.05). Of 377 patients undergoing renal replacement therapy (RRT) at time of transplantation, 305 (81%) and 72 (19%) patients received LTA and CLKT respectively. A significantly greater proportion of CLKT patients had severe end‐stage renal disease (eGFR < 30 ml/min/1.73 m²) at 1 year post‐transplant compared to LTA (9.5% vs. 5.7%, P = 0.001). Patient and graft survival benefit for patients on RRT at transplantation was favouring CLKT versus LTA (P = 0.038 and P = 0.018, respectively) but the renal function of the long‐term survivors was not superior following CLKT. The data does not support CLKT approach based on eGFR alone, and the advantage of CLKT appear to benefit only those who are on established RRT at the time of transplant.     

电针联合右美托咪定对骨科老年患者术中应激的影响研究

目的：探讨电针联合右美托咪定对老年骨科患者术中应激的影响。方法：选取拟行手术治疗的老年下肢骨折患者56例为研究对象，采用随机数字表法分为单纯全麻组、电针复合全麻组（简称复合电针组）、右美托咪定复合全麻组（简称复合右美组）及电针联合右美托咪定复合全麻组（简称针药复合组），各14例。记录各组各时间点血压、心率、血氧饱和度等各项监护指标，术前、术后神经心理学指标（简易智力检查评分和疼痛视觉模拟评分）及各时间点血糖水平，术中心血管活性药物使用情况及患者住院天数。结果：术后各时间点针药复合组简易智力检查评分高于单纯全麻组（P＜0.05）；术后72 h内，针药复合组疼痛评分低于其他三组（P＜0.05）；针药复合组术中循环系统指标及血糖水平更稳定；针药复合组术后意识恢复时间最短（P＜0.05）；四组术后呼吸恢复时间与住院天数比较，差异无统计学意义（P＞0.05）；四组心血管活性药物使用率比较，差异无统计学意义（P＞0.05）。结论：老年骨科患者手术中采用电针联合右美托咪定治疗，能够稳定围术期血糖、术中循环系统指标水平，减少术后认知功能障碍发生率，显著降低术中应激水平。     

A modality-specific somatosensory evoked potential test protocol for clinical evaluation: A feasibility study

ObjectiveWe aimed to establish an objective neurophysiological test protocol that can be used to assess the somatosensory nervous system.MethodsIn order to assess most fiber subtypes of the somatosensory nervous system, repetitive stimuli of seven different modalities (touch, vibration, pinprick, cold, contact heat, laser, and warmth) were synchronized with the electroencephalogram (EEG) and applied on the cheek and dorsum of the hand and dorsum of the foot in 21 healthy subjects and three polyneuropathy (PNP) patients. Latencies and amplitudes of the modalities were assessed and compared. Patients received quantitative sensory testing (QST) as reference.ResultsWe found reproducible evoked potentials recordings for touch, vibration, pinprick, contact-heat, and laser stimuli. The recording of warm-evoked potentials was challenging in young healthy subjects and not applicable in patients. Latencies were shortest within Aβ-fiber-mediated signals and longest within C-fibers. The test protocol detected function loss within the Aβ-fiber and Aδ-fiber-range in PNP patients. This function loss corresponded with QST findings.ConclusionIn this pilot study, we developed a neurophysiological test protocol that can specifically assess most of the somatosensory modalities. Despite technical challenges, initial patient data appear promising regarding a possible future clinical application.SignificanceEstablished and custom-made stimulators were combined to assess different fiber subtypes of the somatosensory nervous system using modality-specific evoked potentials.