Manejo anestésico de las pacientes embarazadas tetrapléjicas durante el parto: una revisión sistemática

IntroductionPregnancy in spinal cord injured patients has specific issues that must be carefully addressed. However, guidelines for their management are scarce.MethodsA systematic review of the literature regarding the anaesthetic management during delivery of pregnant patients with cervical spinal cord injury was performed on the electronic databases of PubMed (Medline) and Cochrane.ResultsA higher incidence of preterm birth and caesarean delivery were seen. Anaesthetic management was diverse, although most pregnant patients received epidural analgesia. Autonomic dysreflexia symptoms were present in 51% of pregnancies.ConclusionTimely management of these patients could possibly reduce caesarean and preterm delivery rates, avoid or minimize common complications, as well as reduce costs. An early reference to anaesthesiology consultation and a multidisciplinary approach is recommended.     

腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果研究

目的研究腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果。方法100例小儿先天性肥厚性幽门狭窄患儿作为研究对象,按照随机方式分为观察组和对照组,每组50例。对照组采用腹腔镜幽门环肌切开术治疗,观察组采用腹腔镜经脐单一部位幽门环肌切开术治疗。观察记录患儿的手术结果及随访结果,并比较两组患儿手术时间、术后住院时间。结果手术过程顺利,100例患儿均成功完成手术,无一例中转开腹手术,无并发症发生。观察组患儿术后6 h将胃管取下,少量喂入温水后逐渐过渡到喂糖水、喂奶;对照组患儿术后24 h开始逐渐进食。患儿术后进行6个月的延续性随访,观察组患儿切口恢复美观,已经无法观察到切口瘢痕,两组患儿的生长发育均显示正常状态。观察组患儿手术时间(21.23±1.65)min及术后住院时间(5.58±1.98)d均显著短于对照组的(38.44±1.23)min、(9.67±1.22)d,差异具有统计学意义(P<0.05)。结论先天性肥厚性幽门狭窄患儿采用腹腔镜经脐单一部位幽门环肌切开术治疗,手术效果良好,手术创伤小而且安全。     

A novel PAX6 mutation causes congenital aniridia with or without retinal detachment

Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.

Methods: Complete ophthalmic examinations were performed for available affected family members. All PAX6 exons and their flanking regions were sequenced for affected individuals. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Bioinformatics prediction was done to evaluate the deleterious effects of the mutation on protein product. Real-time PCR was used to investigate the impact of the variant on PAX6 mRNA expression.

Results: All patients were diagnosed with isolated aniridia associated with variable phenotypic features including retinal detachment. A novel heterozygous deletion c.320_348delTGTCCGAGGGGGTCTGTACCAACGATAAC (p.Leu107HisfsX16) on PAX6 gene was detected. Decreased mRNA level of PAX6 in the affected individuals indicated that the mutation caused nonsense-mediated mRNA decay (NMD).

Conclusions: To the best of our knowledge, it is the first report on the genetics of aniridia in Iran. Segregation analysis, bioinformatics prediction and confirmation of NMD, all support the proposition that the novel observed PAX6 mutation is the cause of aniridia in the pedigree. Retinal detachment in some of the affected members, which is a rare reported phenotypic feature of aniridia patients, may be associated with this mutation.     

右美托咪啶与芬太尼联合对ICU 腹部外科术后机械通气患者镇静镇痛的效果比较

目的:探讨右美托咪啶与芬太尼联合在ICU腹部外科术后机械通气患者中的应用效果及对镇静、镇痛作用的影响。方法:选择2018年5月—2019年6月ICU腹部外科术后机械通气患者62例,随机分为对照组(n=31例)和观察组(n=31例)。两组均采用芬太尼持续静脉泵入,对照组采用咪达唑仑镇静镇痛,观察组采用右美托咪啶镇静镇痛,比较两组镇痛镇静效果、镇静剂使用剂量、苏醒及达到镇静所需时间、血流动力学水平及安全性。结果:两组T2、T3时间点VAS评分分别为(2.40±0.31 vs 2.43±0.32和2.01±0.12 vs 2.05±0.15)、Ramsay量表评分分别(3.21±0.35 vs 3.20±0.33和3.01±0.25vs 3.00±0.24)均低于T1时间点(VAS评分2.94±0.69 vs 2.96±0.71;Ramsay量表评分3.57±0.61 vs 3.58±0.62)(P0.05);观察组右美托咪啶联合芬太尼镇痛镇静达到镇静所需时间(34.29±3.56) min长于对照组(23.63±3.21)(t=5.535,P=0.043);观察组镇静剂使用剂量(220.59±15.25)μg、苏醒时间(3.29±0.69)min均少(短)于对照组镇静剂使用剂量(386.44±18.92)μg、苏醒时间(7.56±1.21)min(t=6.294、6.092,P=0.023、0.025);两组T1、T2时间点心率[观察组T1(88.47±9.76)次/min、T2(86.41±9.43)次/min;对照组T1(89.53±10.41)次/min、T2(87.46±9.58)次/min]均高于T0时间点[观察组(78.78±4.35)次/min、对照组(79.12±4.41)次/min](P0.05);观察组T1、T2时间点MVP(79.58±5.71、87.53±6.76)mmHg高于对照组(74.12±4.69、75.26±5.61)mmHg(t=9.613、7.223,P=0.011、0.016);观察组的不良反应发生率为6.45%,与对照组的12.90%差异无统计学意义(χ~2=1.214, P=0.643)。结论:将右美托咪啶联合芬太尼用于ICU腹部外科术后机械通气患者中能获得良好的镇痛、镇静效果,缩短苏醒及达到镇静所需时间,血流动力学相对稳定,药物安全性较高,值得推广应用。     

舒芬太尼在肾母细胞瘤患儿术后镇痛中的应用效果及对患儿免疫功能的影响

目的探讨舒芬太尼在肾母细胞瘤患儿术后镇痛中的应用效果及对患儿免疫功能的影响。方法采用随机数字表法将42例肾母细胞瘤患儿分为低剂量、中剂量和高剂量组,每组14例,低剂量组、中剂量组、高剂量组患儿术后舒芬太尼镇痛剂量分别为1.0、2.5、4.0μg/kg。术后6、24、48 h,采用中文版儿童疼痛行为量表(FLACC)评估三组患儿的镇痛效果,以及不良反应发生情况;麻醉前和术后1、24、72 h,检测三组患儿免疫功能指标,包括免疫球蛋白(Ig)G、IgA、IgM。结果术后6、24、48 h,中剂量组、高剂量组患儿FLACC评分均低于低剂量组患儿,差异均有统计学意义(P﹤0.05)。术后1、24、72 h,低剂量组患儿IgG、IgA、IgM水平均低于本组麻醉前,差异均有统计学意义(P﹤0.05);术后1、24 h,中剂量组和高剂量组患儿IgG、IgA、IgM水平均低于本组麻醉前,差异均有统计学意义(P﹤0.05),但术后72 h,中剂量组和高剂量组患儿IgG、IgA、IgM水平与麻醉前比较,差异均无统计学意义(P﹥0.05)。低剂量组患儿未发生不良反应,中剂量组患儿发生恶心1例,高剂量组患儿发生恶心5例、呕吐3例。结论2.5μg/kg的舒芬太尼在肾母细胞瘤患儿术后镇痛中效果明显,且对患儿的免疫系统发挥一定的保护作用,可以减轻患儿术后免疫功能抑制。     

利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。