A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene

A congenital cataract present in guinea pigs provided a unique opportunity to study a hereditary lens diseases at the molecular level. ζ-crystallin, one of the most abundant guinea pig lens proteins, was found to be altered in the lens of cataractous animals. Several ζ-crystallin cDNA clones were isolated from a cataractous lens library and found to contain a 102-bp deletion towards the 3′ end of the coding region. The deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter. Sequence analysis of a normal genomic ζ-crystallin clone revealed that the missing 102-bp fragment corresponds to an entire exon (exon 7). PCR analysis of the genomic DNA isolated from cataractous animals showed that exon 7, though missing from the mRNA, is intact in the cataractous genome. Further sequence analysis of the α-crystallin gene disclosed a dinucleotide delection of the universal AG at the acceptor splice-site of intron 6 of the mutant gene. The presence of this mutation results in the skipping of exon 7 during the mRNA processing which in turn results in the altered ζ-crystallin protein. This if the first time a genomic mutation in an enzyme/crytallin gene has been directly linked to a congenital cataract.     

Atrial Septal Defect in a Bonnet Macaque (Macaca radiata)

Atrial Septal Defect was detected at autopsy in a subadult bonnet macaque (Macaca radiata). Case history and autopsy findings were described.     

泌尿系造影联合彩色多普勒对小儿先天性肾积水的诊断价值评估

摘要 目的：探讨泌尿系造影联合彩色多普勒对小儿先天性肾积水的诊断价值。方法：选取2018年11月～2021年11月在本院治疗的88例先天性肾积水患儿为研究对象,所有患儿均完善静脉肾盂造影及彩色多普勒超声检查,以病理诊断结果为金标准,对比两种检查方法对小儿先天性肾积水的诊断价值。结果：彩色多普勒超声检查结果显示,肾积水轻度、中度、重度患儿分别为10例、39例、39例,不同病情程度患儿比较,重度组收缩期峰值速度（PSV）、舒张期最小流速（EDV）均低于中度组和轻度组,重度组血流阻力指数（RI）高于中度组和轻度组（P<0.05）,但轻度组与中度组PSV、EDV、RI比较差异无统计学意义（P>0.05）。与病理学诊断检查结果对比,彩色多普勒超声对中度、重度先天性肾积水患儿具有较高的诊断效能,其准确度分别为90.91%、93.18%,与病理诊断kappa值分别为0.795、0.862,具有较高的一致性;但对轻度肾积水诊断效能较低,kappa值为0.629,一致性一般。静脉肾盂造影对轻度先天性肾积水患儿具有较高的诊断效能,准确度为96.59%,与病理诊断kappa值为0.824,具有较高的一致性;但对中度、重度肾积水诊断效能较低,kappa值分别为0.583、0.565,一致性一般。彩色多普勒超声联合静脉肾盂造影诊断准确率高达94.32%,明显高于两检查方法单独应用（P<0.05）。结论：不同病情程度的先天性肾积水患儿具有不同超声征象,彩色多普勒超声对中、重度肾积水患儿具有较好的诊断价值,而静脉肾盂造影诊断轻度肾积水患儿的效能较好,将二者联合可提高对先天性肾积水的诊断准确率。     

丙泊酚联合七氟醚麻醉在先天性心脏病介入手术患儿中的心肌保护作用及对苏醒质量和应激反应的影响

摘要 目的：研究丙泊酚联合七氟醚麻醉在先天性心脏病介入手术患儿中的心肌保护作用及对苏醒质量和应激反应的影响。方法：选择2020年1月~2022年4月期间在苏州大学附属儿童医院接受先天性心脏病介入手术患儿96例,按照双色球法将患儿分为对照组（n=48,接受瑞芬太尼、丙泊酚麻醉）和观察组（n=48,接受丙泊酚、七氟醚麻醉）。对比两组患儿心率、呼吸频率、平均动脉压、苏醒质量、心肌损伤指标、应激反应指标和不良反应发生率。结果：两组置喉罩时（T1）~拔除喉罩（T4）时间点心率、呼吸频率、平均动脉压下降后升高,观察组高于对照组同时间点（P<0.05）。观察组的苏醒时间、拔管时间均短于对照组（P<0.05）。两组术毕、术后24 h肌酸磷酸激酶同工酶（CK-MB）、心肌肌钙蛋白（cTnI）升高后下降,观察组低于对照组同时间点（P<0.05）。两组术毕、术后24 h血糖、皮质醇升高后下降,观察组低于对照组同时间点（P<0.05）。两组不良反应发生率组间对比,差异不显著（P>0.05）。结论：丙泊酚联合七氟醚麻醉应用于先天性心脏病介入手术中,可减轻患儿的应激反应,稳定机体血流动力学波动,同时还可发挥心肌保护作用,提高苏醒质量。     

Congenital defects of the upper lateral incisors (ULI): Condition and measurements of the other teeth,measurements of the superior arch,head and face

We surveyed a French male population for the incidence of missing or reduced upper lateral incisors (ULI). In 5,738 subjects, we observed an incidence of 1.59% with one or two reduced ULI (the other normal) and 1.90% with one or two missing ULI (the other normal or reduced), altogether, 3.49% affected subjects. Furthermore, 250 random controls were observed. Agenesis of other teeth is more frequent in propositi. Missing third molars were 12.4% in controls, 24.0% in propositi with reduced ULI and 39.6% in propositi with two missing ULI. Furthermore, agenesis of incisors, canines and premolars ranges from 0.4% in controls to 1.3% in propositi having reduced ULI and 5.0% in propositi with two missing ULI. So, propositi with reduced ULI are intermediate between the controls and the propositi with missing ULI with respect to the frequency of agenesis of other teeth. On the other hand, a different ranking is observed with respect to the teeth measurements: reduction of tooth size is more marked in propositi with reduced ULI than in propositi with missing ULI. The reduction mainly affects canines, incisors and to a lesser degree, premolars. Arch length and interpremolar diameters are smaller in propositi with missing ULI, compared with controls.     

Dental agenesis in the Dariusleut Hutterite Brethren: comparisons to selected Caucasoid population surveys

We report the results of a study of the prevalence of nonsyndromic dental agenesis among a sample of 208 individuals (105 females, 103 males) between the ages of 15 and 29 years from a North American religious and genetic isolate, the Dariusleut Hutterites of Western Canada. Direct examination of dental casts, oral examination reports, dental treatment records, and a limited number of dental radiographs reveals congenital absence and/or obvious morphometric reduction of at least one tooth (excluding third molars) in 98 subjects (55 females, 43 males), yielding a prevalence estimate of approximately 47%. This estimate is nearly four times those reported for nonisolate Caucasoid populations of European descent and substantially higher than the elevated prevalences observed in several other isolated populations. Although the prevalence of dental agenesis in the Dariusleut is indeed high, neither the incidence of bilateral agenesis (exhibited at least once in 58% of affected dentitions), number of affected teeth per person (mean, 2.4), morphologic tooth classes affected, or combinations of tooth classes affected ostensibly distinguish them from other populations with similar geographic origins. We conclude that the dental agenesis observed in this North American genetic isolate does not represent a private polymorphism or rare developmental variant. Consequently, the results of further study in these Dariusleut Brethren will be directly relevant to critically testing as yet unresolved hypotheses for the mode of gene action and the relative contributions of hereditary and environmental factors to the reduction of tooth numbers in human dentitions.     

喉罩通气下七氟醚全凭吸入麻醉在小儿先天性心脏病介入手术的临床麻醉效果

目的:探讨喉罩通气下七氟醚全凭吸入麻醉在小儿先天性心脏病介入手术的临床麻醉效果。方法:选取2017年4月～2019年5月期间我院收治的行先天性心脏病介入手术患儿98例,根据随机数字表法将其分为对照组(n=49)和研究组(n=49)。对照组给予氯胺酮诱导,全凭丙泊酚维持,面罩吸氧;研究组给予全凭七氟醚诱导、维持,喉罩通气。比较两组患儿麻醉前(T0)、切皮前(T1)、切皮后1 min(T2)、切皮后30 min(T3)、术后(T4)的血流动力学指标[平均动脉压(MAP)、心率(HR)]及应激反应指标[血糖、皮质醇],记录两组患儿手术时间、麻醉诱导时间、术后苏醒时间等围术期指标情况。记录两组围术期不良反应发生情况。结果:研究组手术时间、麻醉诱导时间、术后苏醒时间均短于对照组(P0.05)。两组T0时间点血糖、MAP、皮质醇、HR比较差异无统计学意义(P0.05);对照组T1～T4时间点MAP、血糖、皮质醇、HR均较T0升高(P0.05);研究组T1～T4时间点血糖、MAP、皮质醇、HR与T0时间点比较无差异(P0.05);研究组T1～T4时间点血糖、MAP、皮质醇、HR低于对照组(P0.05)。两组不良反应发生率比较无差异(P0.05)。结论:小儿先天性心脏病介入手术中应用喉罩通气下七氟醚全凭吸入麻醉,诱导迅速且安全、术后苏醒快、手术时间短,可有效维持血流动力学稳定,减少应激反应。     

3D数字打印技术在重度脊柱侧弯中的临床分析研究

目的:评估和比较3D数字打印技术在重度脊柱侧弯患者手术中的临床疗效及安全性。方法:按照已经设定的纳入及排除标准,对2017年1月至2019年1月诊断为重度脊柱侧弯并在我科行手术治疗的22名患者进行前瞻性分析。根据是否采用3D打印技术辅助,将其通过随机数字表分为3D辅助组(实验组)与对照组。实验组(共11例)通过Minics软件进行3D模拟设计及打印,术中进行技术辅助。对照组(11例)则通过常规的徒手置钉办法进行手术。通过CT比较两组患者的置钉准确性,并比较两组患者的其他影像学检查和相关手术指标,包括:手术时间,输血量,透视次数等。结果:本研究纳入的患者(22例)均得到至少6个月的完整随访。两组患者在术前的影像学测评,Cobb角,年龄、性别构成等指标的比较中未见显著统计学差异(P>0.05)。实验组CT评价置钉准确率为83.6%(0级及1级),对照组的置钉准确率为72.3%。两组比较有统计学差异(P<0.05)。实验组在手术时间,术中输血量及透视次数等手术指标的比较中均显著优于对照组(P<0.05)。实验组的入院后待手术时间显著高于对照组(P<0.05)。实验组在术后3天的VAS指标显著优于对照组(P<0.05),但在术后6月的比较中无显著性差异(P>0.05)。两组患者的ODI指数较术前均有显著改善(P<0.05),且两组间无显著性差异(P>0.05)。两组患者均未出现严重并发症(P>0.05)。结论:与常规的徒手置钉相比,针对重度脊柱侧弯患者,3D数字打印辅助技术能够显著的提高置钉的准确性,减少手术时间和术中输血量,大幅度减少透视危害,且降低操作难度,值得临床进一步推广使用。