OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms. METHODS: Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells. RESULTS: Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH. CONCLUSION CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
Humans ; Female ; Amniotic Fluid/metabolism* ; Pregnancy ; Mosaicism/embryology* ; Prenatal Diagnosis/methods* ; Adult ; In Situ Hybridization, Fluorescence ; Microarray Analysis/methods* ; Karyotyping ; Retrospective Studies ; Male

Objective To investigate whether the application of automated software for computed tomography angiography(CTA)and computed tomography perfusion imaging(CTP)can improve in-hospital workflow for endovascular treatment(EVT)in acute ischemic stroke patients.Methods We included patients with acute ischemic stroke who received CTA and CTP evaluation followed by EVT through the stroke emergency pathway at the Affiliated Hospital of Southwest Medical University between January 1,2020 and December 30,2022.The patients were divided into two groups:control group and artificial intelligence(Al)group based on whether automated software was used for assessment.The control group consisted of patients who underwent manual post-processing of multimodal imaging before June 2021,while the AI group was composed of patients whose imaging was processed with automated software from July 2021 onwards.The primary outcome was door-to-puncture time(DPT),and the secondary outcome was the 90-day modified Rankin Scale(mRS)score.Results A total of 312 patients were included,with 145 in the control group and 167 in the AI group.The median age of all the patients was 68 years(range:58-74 years),and 55.4％(173 patients)were male.The median National Institutes of Health Stroke Scale(NIHSS)score at presentation was 16 scores(range:12-19 scores).The median DPT was reduced from 110 min(range:80-150 min)before the use of automated software to 95 min(range:65-125 min)after its implementation(P＜0.001).However,there was no significant difference in the proportion of patients achieving functional independence(mRS score of 0-2)between the two groups(39.3％vs.41.3％,P=0.719).Conclusion The application of multimodal CT automated software improves the in-hospital workflow for acute ischemic stroke patients by reducing the time to EVT.However,the software did not significantly impact neurological functional outcomes as measured by the mRS.

Objective:To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.Methods:Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells. Results:Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.Conclusion:CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.

Objective To evaluate the patterns of sleep duration by integrating nocturnal and daytime sleep,and to explore their asso-ciations with activities of daily living(ADL)in middle-aged and older adults.Methods The data of sleep and ADL were obtained from 11 085 subjects aged 45 and older,which were collected from the China Health and Retirement Longitudinal Study(CHARLS).At enrollment in 2011,data on nocturnal and daytime sleep duration were collected through questionnaires.Firstly,subjects were divided into three groups based on the 33rd and 66th percentiles of nocturnal sleep duration,assigned scores of 1,2 and 3,respectively.Subsequently,subjects were divided into three groups based on the 33rd and 66th percentiles of daytime sleep du-ration,assigned scores of 3,2 and 1,respectively.Finally,the scores for nocturnal and daytime sleep were summed to create a total sleep score ranging from 2 to 6.A total sleep score of 6 was defined as sleep duration pattern 1,indicating a longer nocturnal sleep duration with no or shorter daytime sleep duration.Similarly,total sleep scores of 5,4,3 and 2 were defined as sleep duration patterns 2,3,4 and 5,respectively,with sleep duration pattern 5 indicating a shorter nocturnal sleep duration and a longer daytime sleep duration.The status of ADL was assessed using the Activities of Daily Living Scale(Katz edition)at baseline and during follow-up in 2013,2015 and 2018.The association between sleep duration patterns and the risk of ADL disability was evaluated us-ing a Cox proportional hazards model.Results A total of 63 015 person-years were followed,with 11 085 subjects,during which 3 239 individuals experienced ADL disability.The 33rd and 66th percentiles of the nocturnal sleep duration in the study population were 6.00 hours and 7.00 hours,respectively;while the 33rd and 66th percentiles of the daytime sleep duration were 0.00 hours and 1.00 hours,respectively.Of those,1 522 were classified into sleep duration pattern 1,2 196 into sleep duration pattern 2,4 299 into sleep duration pattern 3,2 304 into sleep duration pattern 4,and 764 into sleep dura-tion pattern 5.Compared to sleep duration pattern 1,the risk of ADL disability of patterns 3,4 and 5 were higher(P<0.05),with P-value for the trend less than 0.001,after adjusting for age,sex,body mass index,marital sta-tus,educational level,residence,smoking,drinking,history of chronic diseases,depression status and season.No interaction effect between gender,age and season,and sleep duration patterns was observed(P>0.05).Com-pared to subjects with nocturnal sleep duration≥9 hours and daytime sleep duration<2 hours,those with noctur-nal sleep duration<7 hours and daytime sleep duration≥2 hours had a higher risk of ADL disability(P<0.05).Conclusion Older adults who sleep less at night but take longer naps during the day are at a higher risk of experiencing limitations in their ADL.Sleep patterns may influence ADL among middle-aged and older populations,and man-aging their sleep duration patterns could help prevent the onset of ADL limitations.

Objective To evaluate the patterns of sleep duration by integrating nocturnal and daytime sleep,and to explore their asso-ciations with activities of daily living(ADL)in middle-aged and older adults.Methods The data of sleep and ADL were obtained from 11 085 subjects aged 45 and older,which were collected from the China Health and Retirement Longitudinal Study(CHARLS).At enrollment in 2011,data on nocturnal and daytime sleep duration were collected through questionnaires.Firstly,subjects were divided into three groups based on the 33rd and 66th percentiles of nocturnal sleep duration,assigned scores of 1,2 and 3,respectively.Subsequently,subjects were divided into three groups based on the 33rd and 66th percentiles of daytime sleep du-ration,assigned scores of 3,2 and 1,respectively.Finally,the scores for nocturnal and daytime sleep were summed to create a total sleep score ranging from 2 to 6.A total sleep score of 6 was defined as sleep duration pattern 1,indicating a longer nocturnal sleep duration with no or shorter daytime sleep duration.Similarly,total sleep scores of 5,4,3 and 2 were defined as sleep duration patterns 2,3,4 and 5,respectively,with sleep duration pattern 5 indicating a shorter nocturnal sleep duration and a longer daytime sleep duration.The status of ADL was assessed using the Activities of Daily Living Scale(Katz edition)at baseline and during follow-up in 2013,2015 and 2018.The association between sleep duration patterns and the risk of ADL disability was evaluated us-ing a Cox proportional hazards model.Results A total of 63 015 person-years were followed,with 11 085 subjects,during which 3 239 individuals experienced ADL disability.The 33rd and 66th percentiles of the nocturnal sleep duration in the study population were 6.00 hours and 7.00 hours,respectively;while the 33rd and 66th percentiles of the daytime sleep duration were 0.00 hours and 1.00 hours,respectively.Of those,1 522 were classified into sleep duration pattern 1,2 196 into sleep duration pattern 2,4 299 into sleep duration pattern 3,2 304 into sleep duration pattern 4,and 764 into sleep dura-tion pattern 5.Compared to sleep duration pattern 1,the risk of ADL disability of patterns 3,4 and 5 were higher(P<0.05),with P-value for the trend less than 0.001,after adjusting for age,sex,body mass index,marital sta-tus,educational level,residence,smoking,drinking,history of chronic diseases,depression status and season.No interaction effect between gender,age and season,and sleep duration patterns was observed(P>0.05).Com-pared to subjects with nocturnal sleep duration≥9 hours and daytime sleep duration<2 hours,those with noctur-nal sleep duration<7 hours and daytime sleep duration≥2 hours had a higher risk of ADL disability(P<0.05).Conclusion Older adults who sleep less at night but take longer naps during the day are at a higher risk of experiencing limitations in their ADL.Sleep patterns may influence ADL among middle-aged and older populations,and man-aging their sleep duration patterns could help prevent the onset of ADL limitations.

Objective To investigate whether the application of automated software for computed tomography angiography(CTA)and computed tomography perfusion imaging(CTP)can improve in-hospital workflow for endovascular treatment(EVT)in acute ischemic stroke patients.Methods We included patients with acute ischemic stroke who received CTA and CTP evaluation followed by EVT through the stroke emergency pathway at the Affiliated Hospital of Southwest Medical University between January 1,2020 and December 30,2022.The patients were divided into two groups:control group and artificial intelligence(Al)group based on whether automated software was used for assessment.The control group consisted of patients who underwent manual post-processing of multimodal imaging before June 2021,while the AI group was composed of patients whose imaging was processed with automated software from July 2021 onwards.The primary outcome was door-to-puncture time(DPT),and the secondary outcome was the 90-day modified Rankin Scale(mRS)score.Results A total of 312 patients were included,with 145 in the control group and 167 in the AI group.The median age of all the patients was 68 years(range:58-74 years),and 55.4％(173 patients)were male.The median National Institutes of Health Stroke Scale(NIHSS)score at presentation was 16 scores(range:12-19 scores).The median DPT was reduced from 110 min(range:80-150 min)before the use of automated software to 95 min(range:65-125 min)after its implementation(P＜0.001).However,there was no significant difference in the proportion of patients achieving functional independence(mRS score of 0-2)between the two groups(39.3％vs.41.3％,P=0.719).Conclusion The application of multimodal CT automated software improves the in-hospital workflow for acute ischemic stroke patients by reducing the time to EVT.However,the software did not significantly impact neurological functional outcomes as measured by the mRS.

Objective:To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.Methods:Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells. Results:Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.Conclusion:CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.

Objective To analyze the genomic characteristics of hepatitis A virus(HAV)in environmental sewage in Zhuanghe from 2020 to 2021 and compare them with those in case samples.Methods Eighteen sewage samples(environmental sewage)were collected from the entry point of the sewage treatment plant in Zhuanghe from July to December 2021,and the viral RNA was extracted. After reverse transcription,VP1-2A region was amplified by nested PCR,sequenced and spliced.The five HAV nucleotide sequences(321 bp)obtained were analyzed for phylogenetic tree by using bioinformatics software.Results The HAV of environmental sewage samples in 2021 were all 1A subtype,and the nucleotide sequence homology of VP1-2A region was 98. 7%-100%. The nucleotide sequence homology was 97. 8%-100% with that of the hepatitis A case samples from Zhuanghe in 2020,which could be evolutionarily divided into two branches.Conclusion Subtype 1A was the dominant genotype of HAV in environmental sewage in Zhuanghe,which was different from the genome of the case sample,and also had the same genome of some strains. By comparing the similarities between HAV nucleic acid in environmental sewage and that in case samples,we can better understand the circulation of HAV,so as to make an early warning for the epidemiological monitoring of hepatitis A.

  Objective  To investigate the needs of eight-year program clinical medical students for the organization and contents of clinical oncology courses.  Methods  From September to November 2020, a questionnaire survey was conducted among eight-year program clinical medicine students in Peking Union Medical College to find out their knowledge base in oncology, teaching mode preference and course contents of interest.  Results  A total of 122 students participated in the survey, in which 89.3%(109/122) of the students showed interest in basic and clinical research projects related to oncology, 84.4%(103/122) thought it was better to use Simulation-based medical education (SBME), and 91.0%(111/122) hoped to learn throughoff-line discussion. In terms of course contents, eight-year program medical students were more interested in knowledge directly related to clinical context, such as diagnosis, treatment, multidisciplinary comprehensive treatment and evidence-based medicine. In terms of sub-analysis, traditional eight-year students (86%, 92/107) showed a higher acceptance of palliative care than students in the 4+4 reform program(60%, 9/15) and were more willing to act as scriptwriters in SBME(26% vs. 7%, P=0.013). The students in clinical phase gained a better understanding of oncology knowledge through research training and were more inclined to take on the role of scriptwriters in SBME than those in basic phase (27% vs. 11%, P=0.048).  Conclusions  The eight-year program clinical medical students are interested in the clinical oncology course and prefer study in the form of Simulation-based medical education (SBME).

Resveratrol (RES), a natural polyphenolic phytochemical, has been suggested as a putative anti-aging molecule for the prevention and treatment of Alzheimer's disease (AD) by the activation of sirtuin 1 (Sirt1/Sir2). In this study, we tested the effects of RES and Sirt1/Sir2 on sleep and courtship memory in a Drosophila model by overexpression of amyloid precursor protein (APP), whose duplications and mutations cause familial AD. We found a mild but significant transcriptional increase of Drosophila Sir2 (dSir2) by RES supplementation for up to 17 days in APP flies, but not for 7 days. RES and dSir2 almost completely reversed the sleep and memory deficits in APP flies. We further demonstrated that dSir2 acts as a sleep promotor in Drosophila neurons. Interestingly, RES increased sleep in the absence of dSir2 in dSir2-null mutants, and RES further enhanced sleep when dSir2 was either overexpressed or knocked down in APP flies. Finally, we showed that Aβ aggregates in APP flies were reduced by RES and dSir2, probably via inhibiting Drosophila β-secretase (dBACE). Our data suggest that RES rescues the APP-induced behavioral deficits and Aβ burden largely, but not exclusively, via dSir2.
Animals ; Alzheimer Disease/metabolism* ; Amyloid beta-Peptides ; Amyloid beta-Protein Precursor/metabolism* ; Drosophila/physiology* ; Drosophila Proteins/metabolism* ; Resveratrol/pharmacology* ; Sirtuin 1 ; Sleep