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OBJECTIVE@#To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).@*METHODS@#The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.@*RESULTS@#G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes.@*CONCLUSION@#Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
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Femenino , Humanos , Embarazo , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 12/genética , Feto , Hibridación Fluorescente in Situ , Mosaicismo , Diagnóstico PrenatalRESUMEN
Objective To evaluate the application of combinatorial probe anchor synthesis (cPAS)?based high?throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ?500 high?throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS?based high?throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).
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Objective@#To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage.@*Methods@#From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results.@*Results@#In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb).@*Conclusion@#cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).
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OBJECTIVE:To study the effect of Yi medicine Acanthopanax trifo-liatus alcohol extract on the contents of IL-1β, IL-6,IL-10,NO,TNF-αand PGE2 in serum of adjuvant-induced arthritis(AA)rats. METHODS:60 SD rats were randomly divid-ed into normal control group (distilled water),model group (distilled water),positive control group (nimesulide,0.03 g/kg), A. trifo-liatus high-dose,medium-dose and low-dose groups [7,3.5,1.75 g(medicinal material)/kg]. Except for normal control group,other groups were given 0.1 ml Freund’s complete adjuvant on posterior right toe to induce AA model. After modeling, those groups were given relevant medicine intragastrically,once a day. The contents of IL-1β,IL-6,IL-10,TNF-α,NO,PGE2 in rat serum were measured 30 days later. The pathological morphology of the rat ankle was also observed. RESULTS:Compared with normal control group,the contents of IL-1β,IL-6,TNF-α,NO and PGE2 in serum increased in model group while the content of IL-10 decreased,with statistical significance (P<0.01);compared with model group,the contents of IL-1β,IL-6,TNF-α,NO and PGE2 in serum decreased in A. trifo-liatus high-dose groups while the content of IL-10 decreased,with statistical significance (P<0.05). The pathology results showed that part of the slice synoviocytes mild thickening,fibrous tissue mild hyperplasia,in-flammatory cells infiltration at varying degrees,macrophages mild hyperplasia in A. trifo-liatus groups. Those changes were not found in normal control group. CONCLUSIONS:A. trifo-liatus alcohol extract has an obvious anti-inflammatory action to AA mod-el rat,by a mechanism of decreasing the contents of IL-1β,IL-6,TNF-α,NO and PGE2,and increasing the content of IL-10.
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Objective To provide more valuable information for diagnosis of dilated cardiomyopathy (DCM),we detected differentially expressed proteins in serum from patients with DCM and healthy people and protein biomarkers were selected.Methods During the period from march 2011 to may,a total of 29 samples of resident patients with DCM from Qilu Hospital of Shandong University,Jinan Central Hospital and Jinan First Peoples Hospital and 30 local healthy people in Jinan were selected as DCM and control groups,respectively.Serum samples from these patients with DCM and controls were detected by ClinProt MALDII-TOF-MS.ClinProTools 2.2 software was used to get mass spectrometric data.The ClinPrott discrimination model was established to screen out differentially expressed proteins as potential biomarkers.Results Via comparing proteins/polypeptides peaks of DCM patients and healthy controls,57 of all 73 peaks were found to be significantly different between the two groups.Compared with the control group,35 peaks were up-expressed while the other 22 peaks were downexpressed.Five peaks were screened out as protein biomarkers.They were mass-to-charge ratio (m/z):4 247.95,4 209.37,1 058.69,1 074.78,and 2 364.71.The sensitivity and specificity of ClinPrott discrimination model was 99.14％ and 99.16％,respectively.Conclusion Patients with DCM have expressed serum proteins differently and we have found five protein markers which might have some value for diagnosis of DCM.
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<p><b>OBJECTIVE</b>This study aims to conduct a survey of the oral health status of disabled individuals in Liangshan Autonomous Prefecture in Sichuan province. This study was also conducted to prepare caries prevention planning in the region.</p><p><b>METHODS</b>On the basis of the Oral Health Surveys: Basic Methods of WHO and the Third National Oral Health Epidemiological Sample Survey Scheme, we investigated caries infecting disabled individuals who live in one big city (Xichang city), three counties (Bhutto county, Muli Tibetan autonomous county, and Huili county), and 46 towns and villages of Liangshan Autonomous Prefecture in Sichuan province, by multi-stage stratified and cluster sampling.</p><p><b>RESULTS</b>Among 3,439 disabled individuals, 2,085 were males and 1,354 were females; among these individuals, 815 live in the city and 2,624 live in rural areas. Furthermore, 2,177 were Han natives and 1,262 were Yi natives (ethnic). The caries prevalence rate and mean DMFT of disabled individuals in Liangshan Autonomous Prefecture in Sichuan province were 87.1% and 9.53, respectively. In Yi, the caries prevalence rate and mean DMFT of disabled individuals in Liangshan Autonomous Prefecture in Sichuan province were 85.8% and 9.93, respectively; in Han, the caries prevalence rate and mean DMFT of disabled individuals in Liangshan Autonomous Prefecture in Sichuan province were 87.9% and 9.29, respectively. No significant difference was found in the two groups of native (P > 0.05). A very low filling rate of 0.2% was also recorded.</p><p><b>CONCLUSION</b>Disabled individuals from Liangshan Autonomous Prefecture in Sichuan province exhibited a high prevalence of caries in permanent teeth. The oral health status of this special group of disabled individuals should be provided intensive care.</p>
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Femenino , Humanos , Masculino , China , Caries Dental , Salud BucalRESUMEN
@#Objective To investigate the feasibility of acute myocardial infarction(AMI)treated with transplantation of bone marrow mesenchymal stem cells(MSCs).Methods Fifty female Wistar rats were randomly divided into the transplant group and control group with 25 animals in each group.The AMI animal model was made by liquid nitrogen freezing.Rat MSCs cultured and induced repeatedly was prepared for transplantation and injected into the infarcted parts of the transplant group.The same volume of DMEM solution was injected into the infarcted parts of the control group.Echocardiography was applied one day preoperation,and one week and four weeks postoperation to evaluate cardiac function.The animals of the transplanted group were executed in the fourth week after operation and the tissues of transplant part were examined by BrdU immunofluorescent stain.Results Some transplant cells expressed the cardiac-specific proteins,α-actin and troponin T.The cardiac function of the transplant group had better than that of the control group(P>0.05)in the fourth week postoperation.The BrdU-labeled cells were found in the histological sections of the transplant parts.Conclusion Rat MSCs cultured generation by generation and repeatedly induced by 5-aza in vitro can differentiate into cardiomyocyte-like cells,which if transplanted into the rat infarcted cardiac muscles will survive and help to improve the host's cardiac function.
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Objective To study the clinical application s of intravenous myocardial contrast echocardiography (IMCE) in assessing myocardial reperfusion in acute myocardial infarction (AMI) using intravenously infused Levovist. Methods IMCE was performed in 13 AMI patients before and after thrombolytic therapy. The power Doppler signals of the myocardial segments were analyzed and the time-amplitude curves were plotted during Levovist infusion and incremental triggering. The maximal amplitude score (A), the mean ascending slope of the curve(?) and the product of A?? were measured. All patients were followed up for 3 months. And then IMCE indices were estimated for left ventricular function. Results There was a significant increase in A,? and A?? between before and after thrombolysis(P
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Objective To assess the value of dobutamine stress echocardiography (DSE) in predicting myocardial viability by comparing with single photon emission computed tomography(SPECT).Methods Taking improvement of ventricular wall motion as a standard,fifteen patients undergone percutaneous coronary artery intervention(PCI) were detected by DSE and SPECT respectively,comparing their accuracy in predicting myocardial viability.Results By DSE, difference of the sensitivity and negative forecasting value was remarkable between peak dose stage and low dose stage,comparing with DSE,SPECT had the highest sensitivity and the lowest distinctivity.Conclusions The two techniques have their own advantages and disadvantages in predicting myocardial viability,but DSE is more practical.
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Objective To observe short-term rapid atrial electrical activation on atrial size and atrial systolic function. Methods Twelve anesthetized mongrel dogs were underwent insertion of a transvenous lead at the right atrial appendage and subjected to 5 hours of rapid right atrial pacing at 450 beat/min. Acoustic quantification(AQ) waveform on biatrial was recorded before and after 5 hours pacing with AQ technique. All measurements were made in sinus rhythm. Results After 5 hours rapid right atrial pacing, end systolic volume(ESV) of both left and right atrial enlarged significantly from ( 5.92 ? 1.51 )ml to ( 7.27 ? 1.86 )ml,from ( 3.13? 0.71 )ml to ( 3.58 ? 0.73 )ml, respectively; but biatrial function decreased markedly,left and right atrial ejection fraction decreased from ( 51.03 ? 9.45 ) to ( 38.23 ? 10.52 ),from ( 36.76 ? 5.36 ) to ( 30.71 ? 7.97 ), respectively. However, left atrial ESV enlarged more than right atrial (by 23 vs 8,P
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AIM: To study the apoptotic role of wild-type p53 in induction of plaque instability in atherosclerotic rabbits. METHODS: Fifty-four New Zealand White rabbits underwent balloon-induced abdominal aortic wall injury and then were fed on a diet of 1% cholesterol. At the end of the eighth week, the rabbits were randomly divided into two groups: group A and group B. Recombinant adenovirus carrying p53 and ?-galactosidase (LacZ) genes were injected in group A and B, respectively. Two weeks later, 10 rabbits each in group A and B was killed and the remaining rabbits all underwent pharmacological triggering with injection of Chinese Russell's viper venom and histamine. RESULTS: Compared with group B, p53 gene over-expression in group A resulted in a marked increase in number of positive apoptotic cells (2.5%?0.8% vs 1.0%?0.3%, P