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Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.
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Objective:To quantitatively evaluate the left ventricular circumferential and longitudinal strain after percutaneous coronary intervention(PCI)in elderly patients with acute myocardial infarction(AMI)using speckle-tracking imaging(STI)on echocardiography.Methods:A prospective case-control study was conducted on 47 elderly patients diagnosed with ST-elevation AMI and undergoing percutaneous coronary interference(PCI)in our hospital from August 2017 to June 2020 as PCI-study group.The 35 normal subjects matched for age and sex were as a normal-control group.The longitudinal peak systolic strain(LPSS)and circumferential peak systolic strain(CPSS)were measured using STI at one week and three months after PCI in the two groups.Results:The values of LPSS and CPSS were apical segment > middle segment > basal segment, which was the similar between LPSS and CPSS.Compared with normal-control group, AMI-PCI group showed that CPSS and LPSS in each segment were significantly reduced at 1 week and 3 months after operation.Compared with the control group, all the CPSS and LPSS values were significantly decreased in AMI group at one week after PCI(-12.3±2.7)% vs.(-22.5±1.7)%( t=19.62, P<0.01); (-12.9±3.2)% vs.(-23.1±2.6)%( t=15.43, P<0.01). Both LPSS and CPSS values were improved at a certain extent at three months after PCI compared with AMI group at one week after PCI.The complete CPSS and LPSS values were significantly increased in AMI group at three months after PCI compared with one week after PCI(-16.8±2.6)% vs.(-12.3±2.7)%, ( t=8.23, P<0.01); (-17.0±3.3)% vs.(-12.9±3.2)%( t=6.11, P<0.01). But, there were still significant differences compared with the NC group(-16.8±2.6)% vs.(-22.5±1.7)%( t=11.29, P<0.01); (-17.0±3.3)% vs.(-23.1±2.6)%( t=9.04, P<0.01). Conclusions:The longitudinal and circumferential strain of left ventricle were severely damaged in elderly patients with AMI.The speckle-tracking imaging technique can be used to quantitatively evaluate the left ventricular strain and its improved situation after PCI in elderly AMI patients.
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Objective@#To investigate the current bedtime routine among Chinese children less than 3 years of age and explore its dose-dependent association with sleep duration and sleep quality.@*Method@#Healthy full-term born children aged 0-35 months were selected by stratified cluster random sampling method from 8 provinces in China following the "Hospital of Province-City-County" sampling technical route during 2012-2013.Brief Infant Sleep Questionnaire(BISQ) was used to assess sleep conditions of these children.Children′s personal and family information was obtained by Shanghai Children′s Medical Center Socio-demographic Questionnaire.Both of these questionnaires were filled in by parents. The effects of bedtime routine on children′s sleep duration and quality were analyzed by multivariate analysis of variance.@*Result@#The children′s average age was(12±10) months(n=1 304), of whom 689 were males (52.8%, 689/1 304). There were 48.5%(632/1 304)of the parents reported that their children had not established regular sleep routines. There was a consistent dose-dependent association between bedtime routine and sleep duration, as well as other indicators for sleep quality (all P<0.05). The more regular the sleep routines, the longer the sleep duration, the earlier the children went to sleep, the shorter the sleep onset latency, the fewer the nighttime wakeup and the shorter the nighttime waking.The nighttime sleep duration was significantly longer for those with a bedtime routine 'every night’ than those who 'never’ had a bedtime routine (9.5(95%CI: 9.4-9.6)vs. 8.9(95%CI: 8.6-9.3)h, t=3.345, P=0.001). Compared with children who never had bedtime routines, children with regular bedtime routines had fewer night wakeup (1.3(95%CI: 1.2-1.4) vs. 2.4( 95%CI: 2.0-2.9), t=3.182, P=0.001) and shorter night waking duration(16.6(95%CI: 14.6-18.8) vs. 59.2 (95%CI: 47.0-72.7)min, t=6.383, P<0.01).@*Conclusion@#The percentage of children who have established regular bedtime routine is low in China. There is significant dose-dependent association between regular bedtime routine and sleep outcomes, especially sleep quality. The more regular the sleep routines, the better the sleep quality.
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Objective To assess the left ventricular systolic function (LVSF) in patients with implanted dual-chamber(DDD) mode cardiac pacemakers using Two-dimensional Echocardiography (2DE),Real-time Tri-plane Echocardiography (RT-3PE)and Full-volume Three Dimensional Echocardiography (FV-3DE).Methods A total of 30 patients with DDD mode cardiac pacemaker were ex-amined by 2DE, RT-3PE and FV-3DE separately.Left ventricle end diastolic volume (LVEDV), left ventricle end systolic volume (LVESV), and ejection fraction (EF) were measured and compared within the three methods above .Results The measurement of EF with patients of post-operation was higher than the patients of pre-operation.The measurements of EF with 2DE were higher than RT-3PE.The measurements of LVEDV , LVESV and SV with 2DE and RT-3PE were lower than FV-3DE, and EF was higher .There were statistically significant differences in above measurements ( P 0.05).Conclusions Implanting DDD mode cardiac pace-maker can evaluate LVSF of patients obviously .FV-3DE can evaluate LVSF in patients with DDD mode cardiac pacemaker accurately . The LVEDV, LVESV and SV are underestimated by 2DE and RT-3PE, and EF is overestimated by 2DE and RT-3PE.
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Objective To evaluate the left ventricular systolic dyssynchrony in patients with left ventricular apical ballooning syndrome (LVABS) quantitatively by real-time three-dimensional echocardiography(RT-3DE) and its correlation with left ventricular ejection fraction(LVEF).Methods 7patients with LVABS were enrolled in this study.The images of left ventricle in full volume mode were obtained by RT-3DE in the different time (just after admission,4 weeks and 8 weeks).Post-processing software of 4D LV Volume Tom-Tec was used for calculation of EF and 16-segmental time-volume curves was obtained.The time to the point with minimal systolic volume(Tmsv) of each segment was calculated and by which the following indexes of systolic dyssynchrony were derived:Tmsv16-SD/Dif,Tmsv-basalSD/Dif,Tmsv-mid-SD/Dif and Tmsv-apical-SD/Dif.The correlation between systolic dyssynchrony index (SDI) and LVEF was analysed.Results ① The Tmsv16-SD/Dif,Tmsv-basal-SD/Dif,Tmsv-mid-SD/Dif and Tmsv apical-SD/Dif of left ventricle in the patients of 4 weeks and 8 weeks were smaller than those of the patients just after admission.There were significant differences among them(all P ＜0.05).②The more SDI increased,the more LVEF decreased,and vice versa.SDI was negatively associated with LVEF in the different time of admission (just after admission:r =-0.758; 4 weeks:r =-0.831 ; 8 weeks:r =-0.889;all P ＜0.05).Conclusions Left ventricular systolic dyssynchrony of severe degree is observed in patients with LVABS just after admission.But the condition of dyssynchrony has been improved gradually after 4 weeks and 8 weeks.SDI is negatively correlated with LVEF.