RESUMO
OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness.@*METHODS@#Sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT ≥ 3.0 mm at 11 ~ 13+6 gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0 ~ ＜3.5 mm (n = 33) and ≥3.5 mm groups (n = 29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test.@*RESULTS@#The median age of the pregnant women was 29 years old (22 ~ 41 years old), the median thickness of NT was 3.4 mm (3.0 ~ 9.1 mm), and the median gestational age at the detection was 13+4 weeks (11+5 ~ 13+6 weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT ≥ 3.5 mm group was higher than that for the 3.0 ≤ NT < 3.5 mm group [3.03% (1/33) vs. 41.38% (12/29), χ² = 13.698, P < 0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS (χ² = 0.028, P > 0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, including SOS1: c.3542C>T (p.A1181V) and c.3817C>G (p.L1273V), COL2A1: c.436C>T (p.P146S) and c.3700G>A (p.D1234N), LZTR1: c.1496T>C (p.V499A), and BRAF: c.64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS.@*CONCLUSION@#NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Assuntos
Gravidez , Humanos , Feminino , Adulto , Lactente , Medição da Translucência Nucal/métodos , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Aneuploidia , Feto/diagnóstico por imagem , Ultrassonografia Pré-Natal , Variações do Número de Cópias de DNA , Fatores de TranscriçãoRESUMO
OBJECTIVE：To establish the content determination method of betaine in Lycium barbarum ，and to optimize the extraction method. METHODS ：HPLC method was used to determine the content of betaine in L. barbarum . The determination was performed on Waters Spherisorb NH 2 column with mobile phase consisted of acetonitrile- 0.01 mol/L monopotassiun phosphate aqueous solution （75∶25，V/V）at the flow rate was 0.7 mL/min. The detection wavelength was 195 nm，and column temperature was 30 ℃. The sample size was 10 μL. Using the content of betaine as index，on the basis of single factor tests ，L（9 34）orthogonal test design were used to select the methanol volume fraction ，extraction time and solid-liquid ratio of betaine in L. barbarum by ultrasonic extraction. The contents of betaine in 10 batches L. barbarum were determined ，and compared with the results of TLC included in 2015 edition of Chinese Pharmacopeia . RESULTS ：The linear range of betaine was 2.035-2 035.04 μg/mL（R2＝0.999 3）. The limits of detection and quantification were 0.410 μ g/mL and 2.051 μ g/mL，respectively. The average recovery were 97.41％-98.86％（RSDs were 0.8％-1.4％，n＝3）. RSDs of precision ，reproducibility and stability （24 h）tests were not higher than 1.2％. The optimal extraction method included solid-liquid ration of 1∶30（g/mL），ultrasonic extraction with methanol for 45 min. The average content of betaine in the extract from the three validation tests was 2.30％（RSD＝0.43％，n＝3）. The contents of betaine in 10 batches L. barbarum were 1.91％ -2.55％ ，which was no significantly different from the results of TLC （1.88％-2.60％）（RE were －1.92％-2.79％）. CONCLUSIONS ：The content determination method of betaine in L. barbarum was established successfully ，and the extract ion process was optinized.
RESUMO
Objective To observe the effect of continuous positive airway pressure ventilation on hypersensitive C reaction protein (hsCRP) and 8-isoprostane in patients with obstructive sleep apnea hypopnea syndrome (OSAHS).Methods A total of 78 OSAHS patients were enrolled and monitored by polysomnography (PSG) in January to March,2013.Another 40 healthy persons were chosen as controls during the same time.According to apnea hypopnea index(AHI) and oxygen saturation,the patients were divided into mild,moderate and severe groups.Blood and urinary 8-isoprostane and hsCRP levels were detected before and after monitoring.After continuous positive airway pressure treatment for three months,blood and urinary 8-isoprostane and hsCRP were also detected in three groups.Results (1) In OSAHS patients,blood 8-isoprostane levels before and after sleep monitoring were (273.80 ± 55.83)ng/L and (337.18 ± 56.28) ng/L urinary 8-isoprostane (35.65 ± 7.08) ng/L and (48.30 ± 14.17) ng/L,hsCRP (7.63 ± 6.10) μg/L and (9.68 ± 8.55) μg/L,respectively.Each parameter reached a significant difference before and after sleep(P ＜ 0.05).(2) The levels of blood CRP and urinary 8-isoprostane in the control group before sleep were (4.56 ± 2.43) μg/L,(264.14 ± 33.61) ng/L,(32.77 ± 9.61) ng/L,after sleep were (4.33 ± 2.08) μg/L,(284.27 ± 47.51) ng/L,(31.13 ± 8.24) ng/L.All the levels were less than those of OSAHS group (P ＜ 0.05).(3) The levels of blood 8-isoprostane in mild,moderate and severe groups after monitoring were (308.16 ± 53.48) ng/L,(327.36 ± 59.05) ng/L,(340.39 ± 55.31) ng/Lrespectively,and urinary 8-isoprostane were (35.23 ± 11.28) ng/L,(38.30 ± 10.89) ng/L,(44.57 ±12.69) ng/L,hsCRP were (5.63 ± 4.26) μg/L,(6.96 ± 4.43) μg/L,(8.92 ± 7.84) μg/L.None of these three parameters showed significant difference between the three groups (P ＞ 0.05).However,compared with the control group,blood and urine 8-isoprostane and hsCRP levels of any groups had significant differences(all P values ＜ 0.05).(3) There was no significant difference in the levels of hsCRP and 8-isoprostane after sleep between the three groups in OSAHS (P ＞ 0.05).(4) Urinary 8-isoprostane level after PSG was positively correlated with hsCRP (r =0.498,P ＜0.01).Either 8-isoprostane or hsCRP level was correlated with AHI (r =0.479,r =0.550;P ＜ 0.01).8-isoprostane and hsCRP levels were positively correlated with time of blood hemoglobin oxygen saturation below 90％ (r =0.413,r =0.502;P ＜ 0.01).(5) After continuous positive airway pressure treatment,the levels of 8-isoprostane and hsCRP both in blood or urine were decreased in the three groups of OSAHS patients (P ＜ 0.05).Conclusions Long term intermittent hypoxia in patients with OSAHS results in enhanced oxidative stress reaction and over-generated inflammatory mediators.There is a positive correlation between oxidative stress and inflammatory mediators,which promotes each other,leading to the organ dysfunction induced by hypoxia.
RESUMO
Standardized patient(SP) is the core element of medical student evaluation system and completes the contents and tasks of objective structured clinical skills examination(OSCE).Its training level directly affects the accuracy and science of the evaluation system.By training and management,SP can be applied in interrogation,physical and other exams for undergraduate,graduate,continuing education students.It has been recognized apparently that the application of SP meets the target of cultivating innovative medical talents and plays a key role in practice evaluation and appraisal system.SP is the useful supplement for the cmrent clinical teaching methods and means.
RESUMO
Objective To investigate the expression level and clinical significance of WT1 gene in acute luekemia (AL) patients.Methods WT1 gene level was detected by real time quantitative-polymerase chain reaction in acute myelogenous leukemia (AML) and in acute lymphocytic leukemia (ALL) patients.Then the expression levels of WT1 gene in different subtypes of AML were compared,and the correlation between gene expression and disease courses and prognosis were observed.Moreover,the relationship between disease courses and WT1 expression in patiens after receiving haemopoietic stem cell transplantation were analyzed.Results Among 66 cases,WT1 expression positive rate was 87.5 ％ (14/16) in AML and 76.0 ％ (38/50) in ALL.In AML,the expression level in M3 showed the lowest than that in any other subtypes (compared with M1,M2,M4,M5,P value was 0.040,0.007,0.006 and 0.01,respectively).The expression level of WT1 was closely correlated with leukemia disease courses.The expression level in complete remission (CR) group showed a significant lower expression level than that in non-remission group (P =0.018) and relapse group (P =0.003),and the re-increase of WT1 expression level could predict relapse as early as 1.5 months.Moreover,WT1 expression also showed an close relationship with prognosis of patients receiving haemopoietic stem cell transplantation.Patients whose WT1 was undetectable had a better prognosis than those with persistent expression,and increase again after becoming undetectable.Conclusion WT1 has a high expression level in AL,which can represent minimal residual disease.The expression level in M3 was lowest than that in different AML subtypes,and its expression level has a close correlation with clinical disease course and prognosis of AL.
RESUMO
[Objective]To discuss the clinical effect of fludarabine and busulfan (Bu+Flu) as a low toxicity myeloablative conditioning regimen for allogeneic peripheral blood stem cell transplantation (allo-HSCT)in leukemia patients.[Methods]Clinical data of 13 patients with hematological malignancies receiving conditioning regimen with Bu+Flu for allo-HSCT were analyzed retrospectively.Conditioning regimen was Bu+Flu,compalriot mismatched and unrelated transplantation combined with rabbit anti-human thymocytes immune globulin (ATG).CsA+short course of methotrexate or CsA + mycophenolate mofetil were used to prevent graft-versus-host disease (GVHD).DNA sequencing of short tandem repeat (STR)polymorphism analysis method was performed for identification of donor stem cells implantation.[Results]13 patients all tolerated with this conditioning regimen well,no serious complications occurred.Neutrophil engraftment was at 9-15 days (median 11 days),platelet engraftment at 8-25 days (median 13 days).10 patients achieved hematopoiesis reconstitution with their full donor chimerisms confirmed by STR-DNA analysis.Acute GVHD occurred in 5 cases,accounting for 38.5％.Chronic GVHD occurred in 4 cases of 10 patients could be assessed,accounting for 40.0％.Severe GVHD more than Ⅱ degree did not happen.1-39 months (median time 11 months)of follow-up revealed the overall survival rate of 76.9％(10/13),disease-free survival of 61.5％ (8/13).The causes for death were relapse in all.[Conclusion]The conditioning regimen with Bu+Flu has low toxicity,well tolerance and better effect.
RESUMO
Objective To preliminarily investigate the effect of PBL applied in teaching of Obstetrics and Gynecology. Methods Ninety eight students were randomly divided into PBL pedagogy group and traditional pedagogy group in clinical practice teaching of dysfunctional uterine bleeding. Exam scores were assessed and opinion survey was summarized. Results The exam score was 80.7 ± 5.6 of PBL pedagogy group and 76.3 ± 4.9 of the other group respectively. There was significant difference between the scores of the two groups (P <0.05). Most students consider that PBL pedagogy was of benefit to students' ability. Conclusion PBL pedagogy has more advantages in training of clinical thinking than traditional teaching method.
RESUMO
Objective To investigate the clinical and pdysomnographic characteristics and related factors of obstructive sleep apnea hypopnea syndrome (OSAHS) in elderly patients. Methods The 163 elderly patients with OSAHS confirmed by polysomnography were classified into obesity group and non-obesity group according to body mass index (BMI). All cases were grouped into mild,moderate and severe groups according to the apnea hypopnea index (AHI) and night SaO2. The 190non-elderly OSAHS patients were as control group at the same time. The clinical and polysomnographic characteristics were recorded and analyzed. Results (1)The proportion of obesity in OSAHS patients was 79. 1%, there was significant difference between the elderly-obesity group and non-elderly-obesity group (70.3% vs. 83.6%, P＜0.05). (2)The proportions of moderate and severe OSAHS patients were lower in elderly group than in non-elderly group. There were significant differences in AHI, the lowest arterial O2 saturation (LSaO2) and % TRT SaO2 ＜90% between the two groups (all P＜0.05). (3)The sleep architecture disturbance was significantly severer in elderly group than in non-elderly group. The percentages of non-rapid eye movementsleep (NREM sleep)stage Ⅲ-Ⅳ sleep were significantly decreased, and the arousal was significantly increased. (4) The syndrome of OSAHS in elderly group was untypical and the clinical complication was increased.Conclusions The elderly OSAHS patients are less severe than non-elderly group, but the elderly patients have worse sleep architecture disturbance and more complications such as hypertension and other cardiovascular diseases.
RESUMO
Human embryonic stem cell (hES cells) lines can be derived from the inner cell mass (ICM) of preimplantation blastocysts.hES cells are commonly defined as undifferentiated pluripotent cells that can proliferate and have the capacity of both self-renewal and differentiation into one or more types of specialized cells.hES cells remain undifferentiated when culture on feeder layers,such as murine embryonic fibroblasts (MEFs).It is believed that various factors secreted from feeder layers are necessary to prevent hES cell from differentiation.In this review,we will summarize the advantages and disadvantages of various types of feeder cells by which a reference for future research will be provided.
RESUMO
Objective To study the clinic effect and safety of MEAD chemotherapy regimen for adult patients with relapsed or refractory acute lymphocyte leukemia. Methods Between July 2006 and July 2009,twenty-two adult patients with relapsed or refractory acute lymphocyte leukemia received MEAD regimen (mitoxantrone 6 mg/d dl-3 iv drip,cytarabine 100 mg/d dl-5 iv drip,etoposide 100 mg/d dl-5 iv drip,dexmethasone 10 mg/d dl-8 iv drip). Results The complete remission (CR) rate of adult patients with relapsed or refractory acute lymphocyte leukemia was 31.8 %,the partial remission(PR) rate was 22.7 % and the overall response (OR) rate 54.5 %. The cumulitive CR rate was 50.0 %,and the PR rate 40.9 % after two times MEAD chemotherapy regimen. The main adverse effect was different level of myelosuppression,and other toxicity of vital organ was mild. Conclusion MEAD regimen is effective and can be tolerated for adult patients with relapsed or refractory acute lymphocyte leukemia,and its side effect is mild.
RESUMO
BACKGROUND: The establishment of amniotic fluid derived stem cells (AFS) can provide an individual reserve for cell therapy in nerve degenerative diseases.OBJECTIVE: To observe the effects of Noggin and basic fibroblast growth factor (bFGF) on AFS differentiation into neural cells.METHODS: Samples of amniotic fluid were obtained through amniocentesis by ultrasound from gestational age of 16-22 weeks for routine prenatal diagnosis. AFS were obtained from the 2~(nd) trimester amniotic fluid samples by immunomagnetic beads selection using CD117 antibody, and identified the surface antigen expression by flow cytometry after amplification. The 3~(rd) generation of AFS with good growth state were induced to differentiate into nerve cells, which were divided into the blank control,based-induced, Noggin-induced and bFGF-induced groups. The induced cell morphology was observed under inverted phase contrast microscopy, and the expression of nestin, β-Ⅲ tubulin and neurofilament in the induced cells was measured by using cell immunofluorescence detection.RESULTS AND CONCLUSION: Flow cytometry analysis indicated that most of AFS cells expressed CD44 and HLA-ABC, but negative for CD45 and HLA-DR. At 2 weeks after induction, the cell morphology exhibited significant changes with increased Nestin,β-Ⅲ tubulin and NF-positive rates in the bFGF-induced group. However, it had no significant difference in the Noggin-induced group and the based-induced group. It revealed that bFGF plays a vital role in the AFS differentiated into nerve cells.
RESUMO
Different cells could be utilized as seed cells in the construction of tissue-engineered skelet al muscle, which include satellite stem cells, myohlasts, embryonic stem cells and mesenchymal stem cells includ-ing bone marrow-derived stem cells, amniotic fluid-derived stem cells, and adipose tissue-derived stem cells. Seed cells from different origins are capable of trans-differentiating into myogenic cells or fusing with myogenic cells, expressing the surface antigen of sarcogenic cells, and participating in the regeneration of muscle fiber, both in vivo and ex vivo. This review gives a summarization of the recent progress in the research on seed cell source in skelet al muscle tissue engineering.
RESUMO
Objective The whole process of vaccine preparation is time-consuming and technically challenging. Here the hGM-CSF-engineered K-562 cell line was constructed to simplify tumor vaccine preparation process. Methods The eukaryocyte expressing plasmid pcDNA3.1/GM-CSF was first constructed and its accuracy was verified through sequencing. The pcDNA3.1/GM-CSF was transfected into COS-7 cells to verify GM-CSF expression and cytokine activity using TF-1 cell line. Then the plasmid was transfected into K-562 cell line using liposome method, and was selected under G-418 and sub-cloned by limiting dilution. GM-CSF product from the monoclone GM-CSF-K-562 cell lines was quantified using ELISA method. Results We successfully constructed the hGM-CSF eukaryocyte expressing plasmid and hGM-CSF expressing K-562 cell line. Conclusion The construction of K-562/GM-CSF line will simplify the preparation of tumor vaccine, thus facilitating the application of tumor vaccination therapy in clinical application.
RESUMO
OBJECTIVE To evaluate the value of blood lactic acid in elder pneumonia patients and indicate its relation with the classification of peverity of patients.METHODS Seventy-five elder patients with pneumonia and 50 younger patients were divided into sepsis group and no sepsis group.The sepsis group was divided into MODS and non-MODS sub groups.The level of blood lactic acid,CRP and PaO2 in them were measured.RESULTS The incidence of sepsis was remarkably higher in the elder pneumonia patients group than in the younger one.There was a significent difference of the blood lactic acid between them((1.74?0.33)mmol/L vs(1.35?0.66)mmol/L,P