BRPF1基因突变致伴畸形面相和上睑下垂的智力发育障碍1例并文献复习北大核心CSCD

回顾性分析2020年12月甘肃省人民医院儿科收治的1例伴畸形面相和上睑下垂的智力发育障碍(IDDDFP)患儿的临床资料并复习相关文献。患儿,女,6月龄,出生体质量2.8 kg,肌张力低下,发育落后;眼裂狭小,眼睑稍下垂;六指畸形。全外显子测序显示患儿 BRPF1基因c.1631G>A(p.Trp544Ter)杂合致病变异,为IDDDFP相关的新发突变,且符合患儿表型与遗传模式。共检索到6篇文献共27例IDDDFP患者,包括4个家系。患者表现为不同程度智力残疾和面部畸形、精神运动和语言发育迟缓、癫痫等临床特征。当患儿表现为智力障碍、眼睑下垂、精神运动和语言发育迟缓、癫痫等时,需考虑IDDDFP,基因测序可明确诊断。     

颞骨岩部颈内动脉及面神经的解剖学观测及临床意义

目的：：探讨颞骨岩部颈内动脉及面神经的解剖学结构,为颞骨岩部入路颅底手术提供解剖学数据支持。方法：采用颞耳后入路方法,制作10例成人湿颅颞骨岩部标本,暴露颞骨内面神经及颈内动脉各段,测量面神经及颈内动脉各段的长度,颈内动脉垂直段、水平段与耳蜗距离。结果：两侧面神经各段长度及两侧颈内动脉与耳蜗距离比较无显著差异。面神经内耳道段长度为(10.33±1.77)mm,迷路段长度为(4.05±1.19)mm,鼓室段长度为(10.74±1.92)mm。HICA 长度为(17.17±3.72)mm,VICA 长度为(10.65±1.01)mm,HICA 距同侧耳蜗的长度为(19.64±1.48)mm,VICA 距同侧耳蜗的长度为(2.24±0.43)mm。结论：颞骨岩部内面神经鼓室段最长,迷路段最短,耳蜗位于迷路段与岩大神经的夹角内。以颈动脉管内口为标志,磨除岩尖部骨质保护耳蜗的安全范围为(17.17±3.72)mm。相关手术操作在接近这些位置时应停止操作或变更方向,以免损伤岩部内相关重要的结构。     

Myelin ultrastructure of sciatic nerve in rat experimental autoimmune neuritis model and its correlation with associated protein expression

To explore the relationship of peripheral nerve ultrastructure and its associated protein expression in experimental autoimmune neuritis (EAN). EAN was established in Lewis rats using an emulsified mixture of P0 peptide 180-199, Mycobacterium tuberculosis, and incomplete Freund’s adjuvant. Rats immunized with saline solution were used as a control group. Sciatic nerve ultrastructure and immunofluorescence histopathology were measured at the neuromuscular severity peak on day 18 post-induction. Cell-specific protein markers were used for immunofluorescence histopathology staining to characterize sciatic nerve cells: CD3 (T cell), Iba-1 (microglia), S100 (myelin), and neurofilament 200 (axon). The results showed that swelling of the myelin lamellae, vesicular disorganization, separation of the myelin lamellae, and an attenuation or disappearance of the axon were observed by transmission electron microscopy in the EAN group. CD3 and Iba-1 increased significantly in the structures characterized by separation or swelling of the myelin lamellae, and increased slightly in the structures characterized by vesicular of the myelin lamellae, S100 decreased in the structures characterized by vesicular disorganization or separation of the myelin lamellae. And neurofilament 200 decreased in the structures characterized by separation of the myelin lamellae. Furthermore, we found that Iba1 were positive in the myelin sheath, and overlapped with S100, which significantly indicated that Schwann cells played as macrophage-like cells during the disease progression of ENA. Our findings may be a significant supplement for the knowledge of EAN model, and may offer a novel sight on the treatment of Guillain-Barré syndrome.     

脱髓鞘性视神经病变的临床特征

目的:回顾性分析脱髓鞘性视神经病变的临床特征。方法:收集我院特发性视神经炎(IDON)患者71例(IDON组)、视神经脊髓炎(NMO)患者69例(NMO组)、有视神经病变的多发性硬化(MS)患者64例(MS组)共204例患者的临床资料。结果:本组中有17例MS、26例NMO由IDON转化而来,但脱髓鞘性视神经病变也可发生在中枢神经系统脱髓鞘事件之后或者同时发生。NMO容易合并血清免疫学异常,MS容易累及双侧视神经且以球后视神经病变多见,IDON和NMO视功能障碍更为严重。随访生存分析表明,合并颅内病灶或血清免疫学异常的IDON患者转化为MS或NMO的风险明显高于其他正常患者。结论:脱髓鞘性视神经病变的诊断要严格遵循诊断流程,正确鉴别这3种疾病对制定治疗方案延缓疾病进展、降低致残率及判断预后具有重要意义。     

液体石蜡油预防俯卧位手术患者面部压疮的效果评价

目的：探讨液体石蜡油对预防术中皮肤压疮的应用效果。方法选取本院麻醉科2013年10月－2014年10月脊柱俯卧位手术患者356例,随机分为观察组及对照组各178例。对照组采用常规预防压疮护理措施：清洁患者面部皮肤,将患者受压处垫自制棉垫,保持面部受力均匀等。观察组在全麻气管插管成功后,取俯位卧前,用棉签蘸液体石蜡油涂抹在患者面部皮肤与头托的接触部位,以滚动法翻成俯卧位后,在前额、两侧颧弓等受压处垫上棉垫,观察患者面部与头架上的海绵垫接触部位是否受力均匀,有无压迫眼部,气管导管及气囊是否固定牢固,有无受压。观察记录术后面部皮肤受压情况。结果两组患者术后面部压疮发生率及压疮程度比较,差异有统计学意义（P＜0．05）。结论液体石蜡油可以有效地预防手术中患者面部压疮的发生,是一种安全、有效、操作简便的方法。     

CT CARE kV低管电压扫描联合CPR技术术前评估面神经管骨折

目的 探讨智能最佳管电压(CARE kV)低剂量CT扫描及CPR技术在术前评估面神经管骨折中的价值。方法 收集头部外伤伴单侧面瘫患者,采用CARE kV技术进行颞骨HRCT扫描,按就诊先后分4组:A组108例(CARE kV On),管电压120 kVp,B~D组分别为114、105、109例(CARE kV Semi),管电压分别为120 kVp、100 kVp、80 kVp;观察CPR图像面神经管,比较4组患者面神经管骨折发生率、发生部位并与手术结果对照;比较4组间图像质量客观评价指标,包括CT值、噪声(SD)、SNR、CNR及辐射剂量参数[容积CT剂量指数(CTDIvol)、剂量长度乘积(DLP)、有效剂量(ED)]。结果 共纳入436例患者,面神经管骨折174例(174/436,39.91%)。A~D组骨折发生率分别为43.52%(47/108)、39.47%(45/114)、37.14%(39/105)、39.45%(43/109);术前HRCT诊断面神经管骨折与手术结果具有较好的一致性(Kappa>0.5);膝状窝骨折发生率最高(100/174,57.47%),迷路段最低(5/174,2.87%)。A~D组SD、SNR、CNR差异有统计学意义(P<0.05),两两比较除A、B组外余各组间比较差异均有统计学意义(P均<0.05);A~D组CTDIvol、DLP、ED、有效电流差异有统计学意义(P<0.05),经两两比较除A、B组外余各组间比较差异均有统计学意义(P均<0.05)。结论 CARE kV联合CPR术前能够准确评估面神经管骨折情况,并可在满足诊断的前提下降低辐射剂量。     

Flash双源CT智能最佳管电压技术在小儿中耳胆脂瘤面神经管裸露中的应用

目的 评价高分辨率CT(HRCT)智能最佳管电压技术(CARE kV技术)在中耳炎患儿颞骨检查中对降低辐射剂量和显示面神经管裸露的应用价值。方法 收集中耳炎患儿(2~4岁)176例;按就诊先后顺序分为A组88例,采用CARE kV技术行颞骨HRCT扫描,B组88例,常规颞骨HRCT扫描。比较两组中耳胆脂瘤、面神经管裸露、HRCT图像质量及辐射剂量情况,并进行统计学分析。结果 A、B两组中耳胆脂瘤发生率[59.09%(52/88)vs 64.77%(57/88)]差异无统计学意义(χ²=0.020,P=0.887)。术前HRCT诊断中耳胆脂瘤的准确率两组间差异无统计学意义[96.15%(50/52) vs 96.49%(55/57),χ²=0.199,P=0.639]。A、B两组术前HRCT诊断面神经管裸露发生率分别为29.54%(26/88)和31.82%(28/88),术中观察面神经管裸露发生率分别为27.27%(24/88)和28.41%(25/88),两组间术前HRCT诊断及术中观察面神经管裸露发生率差异均无统计学意义(χ²=0.978、χ²=0.440,P均>0.05)。鼓室段面神经管裸露发生率最高(25/49,51.02%),迷路段最低(5/49,10.20%)。两组中,前膝段面神经管裸露长度术前HRCT与术中测量值差异有统计学意义(P均<0.05),其余各段差异均无统计学意义(P均>0.05)。两组间CT平均值、噪声(SD)、SNR、CNR差异无统计学意义(P均>0.05)。两组间剂量长度乘积(DLP)、有效剂量(ED)差异均有统计学意义(P=0.039、0.028)。结论 小儿颞骨HRCT智能最佳管电压技术能准确诊断面神经裸露,同时保证图像质量并有效降低辐射剂量。     

Scales of degree of facial paralysis: analysis of agreement

IntroductionIt has become common to use scales to measure the degree of involvement of facial paralysis in phonoaudiological clinics.ObjectiveTo analyze the inter- and intra-rater agreement of the scales of degree of facial paralysis and to elicit point of view of the appraisers regarding their use.MethodsCross-sectional observational clinical study of the Chevalier and House & Brackmann scales performed by five speech therapists with clinical experience, who analyzed the facial expression of 30 adult subjects with impaired facial movements two times, with a one week interval between evaluations. The kappa analysis was employed.ResultsThere was excellent inter-rater agreement for both scales (kappa > 0.80), and on the Chevalier scale a substantial intra-rater agreement in the first assessment (kappa = 0.792) and an excellent agreement in the second assessment (kappa = 0.928). The House & Brackmann scale showed excellent agreement at both assessments (kappa = 0.850 and 0.857). As for the appraisers’ point of view, one appraiser thought prior training is necessary for the Chevalier scale and, four appraisers felt that training is important for the House & Brackmann scale.ConclusionBoth scales have good inter- and intra-rater agreement and most of the appraisers agree on the ease and relevance of the application of these scales.     

Management of facial palsy after temporal bone fracture via the transmastoid approach

Conclusion: The outcomes of extended subtotal facial nerve decompression via the transmastoid approach were good for facial palsy after temporal bone fracture (TBF). Surgical decompression should be carried out as soon as possible within 8 weeks after trauma. Objective: To present outcomes of facial palsy after TBF via the transmastoid approach and to describe our experience of management of facial palsy in TBF. Methods: A consecutive clinical series was reviewed retrospectively. Eighteen cases that underwent extended subtotal facial nerve decompression (decompression from the stylomastoid foramen to the labyrinthine segment) due to facial palsy after TBF involving the perigeniculate ganglion region were analyzed. The patients were operated between 2 and 14 weeks after trauma. Results: In all, 83.3% of the 18 cases recovered to normal or near-normal level (House-Brackmann (HB) grade I or II). Among the 12 cases operated within 8 weeks after trauma, 11 cases (91.7%) recovered to normal or near-normal level. In contrast, four of the six patients (66.7%) who were operated between 9 and 14 weeks after trauma recovered to HB grade I or II.