克罗恩病肛管直肠狭窄的外科治疗进展

肛管直肠狭窄是肛周克罗恩病最具挑战的并发症,严重影响患者生存质量。受肛管直肠周围狭小解剖空间的限制,如何在解决狭窄症状的同时保留括约肌功能并避免复杂性手术是外科医生面临的临床难题之一。目前关于克罗恩病肛管直肠狭窄的相关研究较少,如何为患者提供最佳的临床评估和治疗方案是目前亟待解决的问题。本文就克罗恩病肛管直肠狭窄的内镜和外科治疗方法作一总结,以期为专科医生临床决策提供参考。

早产儿家族性渗出性玻璃体视网膜病变的临床特征

目的:探讨6例早产儿家族性渗出性玻璃体视网膜病变(FEVR)的临床特征。方法:收集2018-08/2019-01在上海交通大学附属新华医院眼科就诊的FEVR早产儿6例,均于全身麻醉下行荧光素眼底血管造影(FFA)检查确诊,回顾性分析患儿的病例资料及病情特点。结果:患儿6例均有明确的早产病史,初始诊断为早产儿视网膜病变(ROP),曾接受过玻璃体腔药物注射治疗,其中2例患儿接受过2次玻璃体腔注射治疗,随访中眼底检查和FFA检查结果显示符合FEVR的特征。全身麻醉下2例患儿FFA检查后行激光光凝治疗;1例行眼底激光光凝联合玻璃体腔药物注射治疗;1例给予玻璃体腔药物注射治疗;2例患儿FFA检查显示视网膜周边无血管区不伴渗漏,随访观察。结论:临床上早产儿FEVR初始诊断容易误诊为ROP,随访观察视网膜周边持续存在无血管区或病情加重,需行FFA检查明确诊断。FEVR是终身疾病,在婴幼儿期病变迅速发展,早期正确的诊断可使患儿得到正确及时的治疗及遗传咨询建议。

Phakic posterior chamber intraocular lens for unilateral high myopic amblyopia in Chinese pediatric patients

AIM： To assess the outcomes of posterior chamber implantable collamer lens （ICL） implantation in Chinese pediatric patients with unilateral high myopic amblyopia.METHODS： Eleven eyes of 11 amblyopic patients aged 11.02±3.34y underwent ICL （model V4, Staar Surgical Inc.） implantation to treat unilateral anisometropia were studied. Visual acuity, cycloplegic refraction, contrast sensitivity, stereopsis, intraocular pressure （IOP）, vaulting, corneal endothelial cell count and complications were evaluated. Patients completed follow-up at 3d, 1, 3mo and the last follow-up time （mean 8.18±2.82mo） after surgery.RESULTS： The mean myopic anisometropia was -13.70±3.25 D preoperatively and ＋0.69±2.63 D at 8mo postoperatively. The logMAR corrected distance visual acuity （CDVA） of the amblyopic eye was 1.51±0.72 preoperatively and 0.75±0.40 at 8mo postoperatively. The logMAR CDVA at 3d, 1, 3 and 8mo postoperatively improved by a mean of 0.64, 1.55, 1.82 and 2.64 lines and gained more than 2 lines accounted for 18%, 45%, 45%, 64%, respectively. The contrast sensitivity of 0.5, 1 and 2 cpd in amblyopic eyes was significantly increased after surgery. No patient had near stereopsis recovery. The vaulting at 3 and 8mo was significantly lower than that at 1mo postoperatively. No other intraoperative or postoperative complications were observed, except an acute pupillary block glaucoma happened in a patient at two weeks postoperatively.CONCLUSION： This short-term results indicate that ICL implantation can be a promising alternative therapy for high myopic anisometropic amblyopia in pediatric patients who have failed with conventional treatments and not suitable to corneal refraction surgery.

Evaluation of dynamic stereopsis in intermittent exotropia patients

AIM: To delineate the characteristics of the dynamic stereopsis test and analyze related parameters in intermittent exotropia [X(T)] patients. METHODS: Fifty-seven X(T) patients and 55 normal subjects were enrolled in this study. The normal and X(T) groups were used to test the reproducibility and reliability of the dynamic stereopsis test, and Bangerter filters with densities of 0.2 were then used to simulate suppression to test for traditional and dynamic stereopsis. In the X(T) group, the measurements included 1) dynamic stereopsis test comprising three parts: motion+disparity, motion only and disparity only; 2) ocular deviation angle; 3) Bagolini striated lens test; 4) disease course; and 5) Titmus stereopsis test. RESULTS: The test-retest reliability of the dynamic stereopsis method was 0.901 in the normal and X(T) groups, and none of the X(T) patients were able to pass the static and dynamic stereopsis tests after using the 0.2 Bangerter filter. The accuracy rate was greater than 80% in the normal group and 31.81%, 36.36%, and 45.45% for the motion+disparity, motion-only and disparityonly components of the traditional test for X(T) patients diagnosed with stereoblindness via traditional tests,respectively. Patients with a long disease course(>1 y) had worse dynamic stereopsis than those with a short disease course(<1 y; P<0.05, Chi-square test). The deviation angle was not correlated with the motion+disparity, disparityonly, or the motion-only test components(all P>0.05, Chisquare test). CONCLUSION: Dynamic stereopsis is preserved in certain X(T) patients diagnosed with stereoblindness via traditional tests. A long disease course was shown to be a negative factor for dynamic stereopsis in X(T) patients which might be associated with worse progression, and provide good references clinically.

Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment:A case report

BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failureto thrive, facial dysmorphism, and severe developmental delay. BRPS is caused bya heterozygous loss-of-function mutation in the ASXL3 gene. Due to limitedknowledge of the disease and lack of specific features, clinical diagnosis of thissyndrome is challenging. With the use of trio-based whole exome sequencing, weidentified a novel ASXL3 mutation in a Chinese boy with BRPS and performed aliterature review.CASE SUMMARY A 3-year-old Chinese boy was referred to our hospital due to progressivepostnatal microcephaly and intellectual disability with severe speech impairmentfor 2 years. His other remarkable clinical features were shown as follows: Facialdysmorphism, feeding difficulties, poor growth, motor delay, and abnormalbehavior. For the proband, regular laboratory tests, blood tandem massspectrometry, urine gas chromatographic mass spectrometry, karyotype, hearingscreening, and brain magnetic resonance imaging were performed, with negativeresults. Therefore, for the proband and his unaffected parents, trio-based wholeexome sequencing and subsequent validation by Sanger sequencing wereperformed. A novel nonsense variant in exon 11 of the ASXL3 gene (c.1795G>T;p.E599*) was detected, present in the patient but absent from his parents. Takinginto account the concordant phenotypic features of our patient with reportedBRPS patients and the detected truncated variant located in the known mutationalcluster region, we confirmed a diagnosis of BRPS for this proband. Therehabilitation treatment seemed to have a mild effect.CONCLUSION In this case, a novel nonsense mutation (c.1795G>T, p.E599*) in ASXL3 gene wasidentified in a Chinese boy with BRPS. This finding not only contributed to bettergenetic counseling and prenatal diagnosis for this family but also expanded thepathogenic mutation spectrum of ASXL3 gene and provided key information forclinical diagnosis of BRPS.

The cathode catalysts of hydrogen fuel cell:From laboratory toward practical application

Proton exchange membrane fuel cells(PEMFCs)have received a sustained world-wide attention owing to their promising applications based on clean energy.However,their widespread applications are still restricted by the sluggish oxygen reduction reaction(ORR)process.Over the past decades,significant efforts have been devoted to developing efficient ORR catalysts,which have been summarized in numerous previous reviews.Unfortunately,most of them mainly focused on ORR activity on the rotating disk electrode(RDE)level,which cannot truly represent the performance in real applications.Developing and showcasing efficient catalysts evaluated at the membrane electrode assembly(MEA)level is of vital importance.In this review,we first briefly showcased the recent development of ORR catalysts and then put more emphasis on the discussion of designing efficient catalysts at MEA and full-cell level,aiming to help stimulate more attention on their practical applications.

Fish oil-containing lipid emulsions prevention on parenteral nutrition-associated cholestasis in very low birth weight infants:a meta-analysis

Background The effect of fish oil-containing lipid emulsions on preventing parenteral nutrition-associated cholestasis(PNAC)in very low birth weight(VLBW)infants is not known.Thus,we conducted a meta-analysis to identify any preven-tion effect.Methods PubMed,EMBASE,and CENTRAL were searched up to 26 January 2021 for studies related to the preventive effect of fish oil-containing lipid emulsions and fish oil-free lipid emulsions on cholestasis in VLBW infants.Revman 5.3 was used to synthesize the results.A fixed-effect model was used to summarize the data when the heterogeneity was non-significant(I2<50%),and a random-effects model was used when the heterogeneity was significant(I2>50%).Results Of 728 articles,11 randomized controlled trials met the inclusion criteria.The meta-analysis indicated that fish oil-containing lipid emulsion reduced the occurrence of PNAC significantly with risk ratio(RR)=0.53,95%confidence interval(CI)0.36-0.80,P=0.002.The heterogeneity was non-significant with I2=23%.Subgroup analysis based on par-enteral nutrition duration and median birth weight was performed.The synthesis results for patients with parenteral nutri-tion duration exceeding 14 days revealed I2=35%(P=0.15)and pooled RR=0.47,95%CI 0.30-0.73,P=0.0008;and for patients with duration less than 14 days revealed I2=0%(P=0.72)and pooled RR=1.14,95%CI 0.39-3.35,P=0.81.The synthesis for patients with birth weight more than 1000 g revealed I2=0%(P=0.41)and pooled RR=0.55,95%CI 0.26-1.18,P=0.12;and for patients with birth weight below 1000 g revealed I2=44%(P=0.11)and pooled RR=0.53,95%CI 0.33-0.85,P=0.009.Conclusions The fish oil-containing lipid emulsion can reduce the occurrence of PNAC in VLBW infants based on the avail-able original randomized controlled trial studies,especially for patients with parenteral nutrition duration exceeding 14 days and extremely low birth weight infants.Future studies should be performed before a definitive conclusion can be established.