Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 84
Filter
1.
Article in Chinese | WPRIM | ID: wpr-1017109

ABSTRACT

@#Abstract: S-palmitoylation, a reversible and dynamic post-translational modification in cells, is involved in regulating the transcription and expression of downstream target genes as well as signal transduction, thereby affecting cell life activities. Studies have shown that thousands of human proteins undergo S-palmitoylation modification, suggesting that S-palmitoylation is closely related to the progression and treatment of diseases. T cells play central roles in anti-tumor immune responses. A variety of T cell immune-related proteins are regulated by S-palmitoylation. In the present study, we focus on the impact of S-palmitoylation on T cell signal transduction and its application in T cell immunotherapy, aiming to provide new ideas for the development of new targets and peptide inhibitors for T cell immunotherapy.

2.
Article in Chinese | WPRIM | ID: wpr-1020150

ABSTRACT

Objective To explore the diagnostic value of energy spectrum CT quantitative parameters combined with serum thy-roid stimulating hormone receptor-messenger ribonucleic acid(TSHR-mRNA)for papillary thyroid microcarcinoma(PTMC).Methods A total of 105 patients with thyroid micronodules confirmed by surgery and pathology were collected,61 of whom were PTMC(PTMC group),and 44 patients with micronodular goiter(MNG)(MNG group).Energy spectrum CT quantitative parameters and serum TSHR-mRNA expression were compared between the two groups.The diagnostic value of energy spectrum CT quantitative parame-ters alone and combined with serum TSHR-mRNA for PTMC was analyzed by receiver operating characteristic(ROC)curve.Results The iodine concentration and slope of energy spectrum CT quantitative parameters between PTMC group and MNG group were signifi-cantly different in plain scan,arterial and venous phases(P<0.05).The mean serum TSHR-mRNA expression in the PTMC group was higher than that in MNG group(P<0.05).The area under the curve(AUC)for diagnosing PTMC using quantitative parame-ters of energy spectrum CT combined with serum TSHR-mRNA was 0.913,and the accuracy,sensitivity,and negative predictive value of diagnosing PTMC were significantly higher than those of quantitative parameters of energy spectrum CT or serum TSHR-mRNA(P<0.05).Conclusion Both energy spectrum CT quantitative parameters and serum TSHR-mRNA can be used to diagnose PTMC alone,and the combination of both is more accurately.

3.
Article in Chinese | WPRIM | ID: wpr-1026311

ABSTRACT

Objective To investigate the value of plain and gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid(Gd-EOB-DTPA)enhanced MRI for differentiating clear cell hepatocellular carcinoma(CCHCC)and non-otherwise specified hepatocellular carcinoma(NOS-HCC).Methods Totally 36 CCHCC(CCHCC group)patients and 72 age-matched NOS-HCC(NOS-HCC group)patients were enrolled.Univariate analysis and multivariate logistic regression were used to retrospectively analyze the clinical,pathological and plain upper abdominal MRI as well as Gd-EOB-DTPA enhanced MRI data,so as to screen the independent predictors for distinguishing CCHCC and NOS-HCC.Receiver operating characteristic(ROC)curve was drawn,and the area under the curve(AUC)was calculated to evaluate the efficacy of MRI-related independent predictors for distinguishing CCHCC and NOS-HCC individually and in combination.Results Pathologic Edmondson-Steiner grade of HCC,lesions with fat components showed on MRI,the ratio of lesion-to-liver signal intensity on plain T1WI(LLRT1WI)and the ratio of lesion-to-muscle signal intensity on plain T1WI(LMRT1WI)were all independent predictors for distinguishing CCHCC from NOS-HCC(all P<0.05).The AUC of lesions with fat components,LLRT1WI and LMRT1WI for distinguishing CCHCC and NOS-HCC alone was 0.652,0.689 and 0.687,respectively,and of the combination was 0.762,higher than that of lesions with fat components(Z=-2.401,P=0.016)but not different with AUC of LLRT1WI(Z=-1.841,P=0.066)and LMRT1WI(Z=-1.440,P=0.150)alone.Conclusion Plain and Gd-EOB-DTPA enhanced MRI could be used to distinguish CCHCC and NOS-HCC.

4.
Article in Chinese | WPRIM | ID: wpr-970887

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.@*METHODS@#Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.@*CONCLUSION@#CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.


Subject(s)
Pregnancy , Female , Humans , Cri-du-Chat Syndrome , In Situ Hybridization, Fluorescence , DNA Copy Number Variations , Prenatal Diagnosis , Fetus , Amniotic Fluid , Chromosome Deletion
5.
Chinese Journal of Orthopaedics ; (12): 1610-1620, 2023.
Article in Chinese | WPRIM | ID: wpr-1027674

ABSTRACT

Femoral acetabular impingement (FAI) syndrome is a motion-related clinical disorder of the hip joint, resulting in cartilage lesions frequently. The pattern and natural history of these cartilage lesions vary with types of FAI, each bearing unique gross appearance and injury mechanism. On the basis of available evidence, this paper reviews the progress of the FAI-related acetabular cartilage lesions in pathogenesis, diagnosis and treatment. Cam-type FAI is always closely associated with acetabular cartilage lesions and early-onset of hip osteoarthritis. However, the reason why acetabular cartilage developed into osteoarthritis in FAI of Cam-type is unknown. In addition to the direct mechanical impingement and the vulnerable anatomic base of chondrolabral junction, stress change from abnormal movement or anatomical morphology will lead to the change of biomechanical environment, causing a chronic-recurrent inflammation in articular cartilage. The preoperative diagnosis of acetabular cartilage lesions depends on a triad of symptoms, clinical signs and imaging findings. 1.5 T magnetic resonance arthrography and 3.0 T magnetic resonance imaging are equally valued in objectively diagnosing cartilage lesions. Final diagnosis relies on surgical exploration, however, there is no consensus on how cartilage lesions should be reported, including the description of extent, location, pattern and grade. Using Beck classification of clock-face method to describe lesions observed in surgery is recommended at present. Most treatment methods of FAI-related acetabular cartilage lesions are borrowed from treating cartilage lesions in knee joints. Conservative treatment includes rest, activity modification, nonsteroidal anti-inflammatory medications and physical therapy. Surgery is an option if conservative treatment of at least 6 months fails. The surgical procedures commonly include chondroplasty, microfracture and enhanced microfracture, autologous matrix-induced chondrogenesis, autologous chondrocyte implantation, matrix-induced autologous chondrocyte implantation, osteochondral transplantation and other cartilage repair techniques. However, there is no consensus on the standardized treatment of FAI-related acetabular cartilage lesions for lacking evidence-based guidance currently.

6.
Article in Chinese | WPRIM | ID: wpr-990653

ABSTRACT

Objective:To investigate the influencing of inferior mediastinum and esophageal hiatus lymph node metastasis by submucosal different venous divisions of esophagogastric junction (EGJ) invaded in Siewert type Ⅱ adenocarcinoma of esophagogastric junction (AEG).Methods:The retrospective case-control study was conducted. The clinicopathological data of 547 patients with Siewert type Ⅱ AEG who were admitted to Shanxi Cancer Hospital from January 2018 to December 2021 were collected. There were 461 males and 86 females, aged 61 (range, 33?75)years. Observa-tion indicators: (1) lymph node metastasis rate in different groups; (2) influencing factors of inferior mediastinum lymph node metastasis in Siewert type Ⅱ AEG; (3) influencing factors of esophageal hiatus lymph node metastasis in Siewert type Ⅱ AEG. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M(range) or M( Q1, Q3), and com-parison between groups was conducted using the Mann-Whitney U test. Count data were described as percentages or absolute numbers, and comparison between groups was conducted using the chi-square test. The univariate analysis was conducted using the corresponding statistical methods based on data type. The Logistic regression model was used for multivariate analysis. Results:(1) Lymph node metastasis rate in different groups. The lymph node metastasis rate in No. 1, 2, 3, 4sa, 4sb, 7, 8a, 9, 11,20, 108, 110 of the 547 patients was 17.37%(95/547), 6.76%(37/547), 46.44%(254/547), 1.65%(9/547), 1.10%(6/547), 23.22%(127/547), 4.39%(24/547), 3.11%(17/547), 3.47%(19/547), 3.66%(20/547), 0.55%(3/547), 4.20%(23/547), respectively. Of the 547 patients, there were 456 cases with proximal of AEG invading submucosal palisade venous of EGJ including 4 cases with inferior mediastinum lymph node metastasis and no case with media mediastinum or up media-stinum lymph node metastasis. There were 91 cases with proximal of AEG invading submucosal perforator venous of EGJ including 18 cases with inferior mediastinum lymph node metastasis, 3 cases with media mediastinum lymph node metastasis and no case with up mediastinum lymph node metastasis. (2) Influencing factors of inferior mediastinum lymph node metastasis in Siewert type Ⅱ AEG. Results of multivariate analysis showed that age, tumor invading submucosal perforator venous of EGJ and histological classification were independent influencing factors for inferior media-stinum lymph node metastasis of Siewert type Ⅱ AEG ( odds ratio=0.93, 23.33, 0.31, 95% confidence interval as 0.87?0.99, 4.18?130.28, 0.12?0.78, P<0.05). (3) Influencing factors of esophageal hiatus lymph node metastasis in Siewert type Ⅱ AEG. Tumor invading submucosal perforator venous of EGJ was an independent influencing factor for esophageal hiatus lymph node metastasis of Siewert type Ⅱ AEG ( odds ratio=14.95, 95% confidence interval as 2.46?90.76, P<0.05). Conclusion:Age, tumor invading submucosal perforator venous of EGJ and histological classification are independent influencing factors for inferior mediastinum lymph node metastasis of Siewert type Ⅱ AEG, and tumor invading submucosal perforator venous of EGJ is an independent influencing factor for esophageal hiatus lymph node metastasis.

7.
Chinese Journal of Biotechnology ; (12): 228-241, 2021.
Article in Chinese | WPRIM | ID: wpr-878557

ABSTRACT

2,5-dimethylpyrazine (2,5-DMP) is of important economic value in food industry and pharmaceutical industry, and is now commonly produced by chemical synthesis. In this study, a recombinant Escherichia coli high-efficiently converting L-threonine to 2,5-DMP was constructed by combination of metabolic engineering and cofactor engineering. To do this, the effect of different threonine dehydrogenase (TDH) on 2,5-DMP production was investigated, and the results indicate that overexpression of EcTDH in E. coli BL21(DE3) was beneficial to construct a 2,5-DMP producer with highest 2,5-DMP production. The recombinant strain E. coli pRSFDuet-tdh(Ec) produced (438.3±23.7) mg/L of 2,5-DMP. Furthermore, the expression mode of NADH oxidase (NoxE) from Lactococcus cremoris was optimized, and fusion expression of EcTDH and LcNoxE led to balance the intracellular NADH/NAD⁺ level and to maintain the high survival rate of cells, thus further increasing 2,5-DMP production. Finally, the accumulation of by-products was significantly decreased because of disruption of shunt metabolic pathway, thereby increasing 2,5-DMP production and the conversion ratio of L-threonine. Combination of these genetic modifications resulted in an engineered E. coli Δkbl ΔtynA ΔtdcB ΔilvA pRSFDuet-tdhEcnoxELc-PsstT (EcΔkΔAΔBΔA/TDH(Ec)NoxE(Lc)-PSstT) capable of producing (1 095.7±81.3) mg/L 2,5-DMP with conversion ratio of L-threonine of 76% and a yield of 2,5-DMP of 28.8% in 50 mL transformation system with 5 g/L L-threonine at 37 °C and 200 r/min for 24 h. Therefore, this study provides a recombinant E. coli with high-efficiently catalyzing L-threonine to biosynthesize 2,5-DMP, which can be potentially used in biosynthesis of 2,5-DMP in industry.


Subject(s)
Escherichia coli/genetics , Lactococcus , Metabolic Engineering , Pyrazines , Threonine
8.
Article in Chinese | WPRIM | ID: wpr-879607

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT).@*METHODS@#Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG.@*RESULTS@#The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband.@*CONCLUSION@#Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.


Subject(s)
Female , Humans , Pregnancy , Chromosome Deletion , Fetus , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping , Prenatal Diagnosis
9.
Article in Chinese | WPRIM | ID: wpr-879629

ABSTRACT

OBJECTIVE@#To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).@*METHODS@#NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells.@*RESULTS@#The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23).@*CONCLUSION@#For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.


Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , DNA Copy Number Variations , In Situ Hybridization, Fluorescence , Prenatal Diagnosis , X Chromosome
10.
Chinese Journal of Trauma ; (12): 97-103, 2020.
Article in Chinese | WPRIM | ID: wpr-867684

ABSTRACT

Epidemic of corona virus disease 2019 (COVID-19) has occurred in Wuhan, Hubei Province since December 2019, caused by a novel coronavirus (2019-nCoV) never been seen previously in human. China has imposed the strictest quarantine and closed management measures in history to control the spreading of the disease. However, severe trauma can still occur in the COVID-19 patients. In order to standardize the emergency treatment and the infection prevention and control of severe trauma patients with hidden infection, suspected or confirmed infection of 2019-nCoV, Trauma Surgery Branch of Chinese Medical Doctors' Association organized this expert consensus. The consensus illustrated the classification of the COVID-19 patients, severe trauma patients in need of emergency surgery, emergency surgery type, hierarchical protection for medical personnel and treatment places. Meanwhile, the consensus standardized the screening, injury severity evaluation, emergency surgical treatment strategy and postoperative management strategy of severe trauma patients during the epidemic period of COVID-19, providing a basis for the clinical treatment of such kind of patients.

11.
Chinese Journal of Trauma ; (12): 938-943, 2020.
Article in Chinese | WPRIM | ID: wpr-867808

ABSTRACT

The spleen is the most vulnerable abdominal parenchymal organ. Accurate detection, diagnosis and evaluation of the severity of splenic parenchyma and vascular injury by radiologists is crucial for selection of clinical treatment strategies. Multidetector computed tomography (MDCT) is the first choice for hemodynamically stable patients. The American Association for Surgery of Trauma-Organ Injury Scale (AAST-OIS) scale is the most widely used tool to guide clinical treatment based on spleen parenchymal injury. The authors conduct a review from aspects of MDCT diagnosis, AAST-OIS classification and treatment, prognosis evaluation and imaging follow-up of patients with blunt splenic injury, in order to provide more help for radiologists and trauma surgeons.

12.
Chinese Journal of Trauma ; (12): 1-7, 2020.
Article in Chinese | WPRIM | ID: wpr-811514

ABSTRACT

A novel coronavirus pneumonia (NCP) epidemic has occurred in Wuhan, Hubei Province since December 2019, caused by a novel coronavirus (2019-nCoV) never been seen previously in human. China has imposed the strictest quarantine and closed management measures in history to control the spreading of the disease. However, severe trauma can still occur in the NCP patients. In order to standardize the emergency treatment and the infection prevention and control of severe trauma patients with hidden infection, suspected or confirmed infection of 2019-nCoV, Trauma Surgery Branch of Chinese Medical Doctors' Association organized this expert consensus. The consensus illustrated the classification of the NCP patients, severe trauma patients in need of emergency surgery, emergency surgery type, hierarchical protection for medical personnel and treatment places. Meanwhile, the consensus standardized the screening, injury severity evaluation, emergency surgical treatment strategy and postoperative management strategy of severe trauma patients during the epidemic period of NCP, providing a basis for the clinical treatment of such kind of patients.

13.
Article in Chinese | WPRIM | ID: wpr-824499

ABSTRACT

Objective To explore the possibility that the neck extension in chest CT scanning would make thyroid move upward and reduce thyroid radiation exposure.Methods The images of 1 994 patients who underwent chest CT examination in Beijing Chaoyang Hospital from March to June in 2017 were compared and analyzed retrospectively.According to different cervical positions,patients were divided into extension group and routine group with 997 cases in each group.In the extension group,the head and neck bended back to the maxillary top position while in the regular group with normal position.The length of thyroid glands exposed to the scanning range and the number of cases of all glands moved out of the scanning range were observed with the first rib head as the baseline counting mark.The differences in exposed length of thyroid gland in primary radiation area between the two groups were compared.Results The length of exposed thyroid gland by primary radiation in the extension group (4.69± 5.68) mm was significantly shorter (U=91 073.5,P<0.05) than that in the routine group (17.16±6.68) mm.In addition,the number of thyroid glands out of scanning range completely in the extension group (n =519,with ratio of 52.1%) was significantly more (U=594.8,P<0.05) than those in the routine group (n=32,with ratio of 3.2%).Conclusions During chest CT scan,the length of thyroid gland in the scanning field can be shortened with neck backbend position and the radioation protection for thyroid gland can be effectively improved.

14.
Article in Chinese | WPRIM | ID: wpr-800172

ABSTRACT

Objective@#To explore the possibility that the neck extension in chest CT scanning would make thyroid move upward and reduce thyroid radiation exposure.@*Methods@#The images of 1 994 patients who underwent chest CT examination in Beijing Chaoyang Hospital from March to June in 2017 were compared and analyzed retrospectively. According to different cervical positions, patients were divided into extension group and routine group with 997 cases in each group. In the extension group, the head and neck bended back to the maxillary top position while in the regular group with normal position. The length of thyroid glands exposed to the scanning range and the number of cases of all glands moved out of the scanning range were observed with the first rib head as the baseline counting mark. The differences in exposed length of thyroid gland in primary radiation area between the two groups were compared.@*Results@#The length of exposed thyroid gland by primary radiation in the extension group (4.69±5.68) mm was significantly shorter (U=91 073.5, P<0.05) than that in the routine group (17.16±6.68) mm. In addition, the number of thyroid glands out of scanning range completely in the extension group (n=519, with ratio of 52.1%) was significantly more (U=594.8, P<0.05) than those in the routine group (n=32, with ratio of 3.2%).@*Conclusions@#During chest CT scan, the length of thyroid gland in the scanning field can be shortened with neck backbend position and the radioation protection for thyroid gland can be effectively improved.

15.
Article in Chinese | WPRIM | ID: wpr-806641

ABSTRACT

Objective@#To investigate the relationship between the mutations in precore/core (preC/C) region of hepatitis B virus (HBV) gene and the postoperative survival in patients with hepatocellular carcinoma.@*Methods@#A total of 81 cases in HBV associated hepatocellular carcinoma (HBV-HCC) patients with cancer tissue genomic DNA were extracted. The preC/C region of HBV was amplified and sequenced, and survival-associated HBV mutations were identified according to the NCBI database. The relationships between the mutations in the preC/C region and HCC survival was analyzed with the Kaplan-Meier method and the Cox proportional hazards model. Eleven mutational sites were identified as statistically significant independent predictors of HBV-HCC postoperative survival.@*Results@#The portal vein thrombosis, tumor TNM classification and size were identified as statistically significant independent predictors of survival in HBV-HCC patients. In the research, we found that seven mutational sites in preC/C region of HBV were associated with independent risk factors for postoperative survival in patients of HBV-HCC. The following five mutational sites were identified as statistically significant independent predictors of HBV-HCC survival: 1915, 2134, 2176, 2221, 2260. The mutational site of 1979 and 2245 were identified for the association with survival at a borderline significance level.@*Conclusions@#The portal vein thrombosis, tumor TNM classification, size and seven mutational sites in the PreC/C region were identified as independent predictors of postoperative survival in HCC patients.

16.
Chinese Journal of Radiology ; (12): 108-112, 2018.
Article in Chinese | WPRIM | ID: wpr-707903

ABSTRACT

Objective To investigate the value of the signal intensity of portal vein at hepatobiliary phase on gadoxetic acid liver enhancement imaging for accessing the liver function. Methods Ninety five subjects who underwent gadoxetic acid enhanced liver MR imaging due to suspicion of liver diseases between January 2015 and June 2016 at the First Hospital of Soochow University were retrospectively analyzed. Patients were classified into 4 groups based on their liver function: cirrhosis patients with Child-Pugh class A(n=50),B(n=19),C(n=6)and control group(n=20).All the patients had underwent the abdominal non-enhanced and gadoxetic acid enhanced MR imaging. The signal intensity (SI) of the portal vein at non-enhanced phase and hepatobiliary phase(delayed 20min)were recorded.The ratio of the portal vein to spleen were calculated.The nonparametric Kruskal-Wallis test was used to compare the differences in the SI of portal vein at non-enhanced and the ratio of portal vein to spleen at hepatobiliary phase among the four groups.Multiple regression analysis was applied to analyze the correlated predicting factors of the ratio of the portal vein to spleen at hepatobiliary phase. Results At non-enhanced phase, the SI ratio of portal vein had no significant difference(P>0.05).The ratio of the portal vein to spleen at hepatobiliary was significantly different (P<0.05). The ratio of the portal vein to spleen at hepatobiliary constantly and significantly decreased as the severity of liver dysfunction increased. The serum levels of albumin and platelet count were independent predictors of the ratio of the portal vein to spleen at hepatobiliary phase(P=0.002 and 0.007).Conclusions The ratio of the portal vein to spleen at hepatobiliary phase on gadoxetic acid enhanced MR imaging indicates the severity of liver dysfunction.It might be used as a tool to assess the liver function.

17.
Article in Chinese | WPRIM | ID: wpr-335159

ABSTRACT

<p><b>OBJECTIVE</b>To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.</p><p><b>METHODS</b>Chromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.</p><p><b>RESULTS</b>Fetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.</p><p><b>CONCLUSION</b>Considering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.</p>


Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Pregnancy , Young Adult , Amniotic Fluid , Chemistry , Chromosome Banding , Chromosome Disorders , Diagnosis , Embryology , Genetics , Cytogenetics , Fetal Diseases , Diagnosis , Genetics , Genetic Markers , In Situ Hybridization, Fluorescence , Karyotyping , Prenatal Diagnosis
18.
Chinese Journal of Radiology ; (12): 262-267, 2017.
Article in Chinese | WPRIM | ID: wpr-515271

ABSTRACT

Objective To investigate the value of vessel size index(VSI) in grading oligodendroglioma by vessel size imaging technique. Methods Twenty-four histologically confirmed oligodendroglioma cases were enrolled (13 gradeⅡand 11 gradeⅢ) . All patients underwent conventional MRI scanning, followed by multi gradient-echo spin-echo sequence from dynamic susceptibility contrast perfusion to generate VSI maps. Region of interests were contoured on VSI color maps to obtain hot-spot value of mean VSI of microvasculature (VSImean) and maximum VSI of microvasculature (VSImax). Paraffin sections of each case was stained with CD34 to acquire microvascular caliber (VShis). Pearson correlation analysis was used to evaluate the correlation between VSImean, VSImax and VShis respectively. Mann-Whitney U test was used to compare VSImean, VSImax and VShis between grade Ⅱ and Ⅲ oligodendrogliomas. ROC analysis was performed to assess the effectiveness of VSImean, VSImax and VShis in grading oligodendrogliomas. Results Both VSImean and VSImax were strongly correlated with VShis (r=0.738, 0.705,P<0.05). For gradeⅡand Ⅲ oligodendrogliomas, VSImean were 38.93(17.96 to 81.18)μm and 91.49(36.94 to 144.68)μm, VSImax were 45.12(22.30 to 89.65)μm and 121.19(57.29 to 164.00)μm, VShis were 8.51(5.25 to 12.76)μm and 11.03(7.59 to 21.96)μm respectively. VSImean, VSImax, and VShis showed significant difference (Z=-3.505,-3.911, -2.729,P<0.05) between grade Ⅱ and Ⅲ oligodendrogliomas. ROC analysis revealed that the optimal cutoff value, sensitivity, specificity and AUC of VSImean was 52.58 μm, 90.91%, 92.31%, 0.923 respectively, 81.18μm, 90.91%, 100.00%, 0.972 for VSImax, and 9.01μm, 90.00%, 84.62%, 0.838 for VShis respectively. Conclusions Vessel size imaging derived VSI correlated well with histopathology. It could provide valuable information in the pre-operative grading of oligodendroglioma.

19.
Drug Evaluation Research ; (6): 112-114,132, 2017.
Article in Chinese | WPRIM | ID: wpr-606765

ABSTRACT

Objective To discuss the efficacy of Lamiophlomisrotata Dripping Pill combined with intra-articular injection of medical ozone in the treatment of knee osteoarthritis.Methods Eighty patients with knee osteoarthritis were selected,the control group (39 cases) were administered Lamiophlomisrotata Dripping Pill,the observation group (41 cases) were administered Lamiophlomisrotata Dripping Pill combined with intra-articular injection of medical ozone.The efficacy of Lamiophlomisrotata Dripping Pill combined with intra-articular injection of medical ozone in the treatment of knee osteoarthritis were evaluated by efficacy,knee function,and inflammatory factor.Results After treatment,the effective rate of the observation group was higher than that of the control group (P < 0.05).In the observation group,there were 38 cases of patients who felt pain,tenderness,and swelling symptom relief.There were 28 cases in the control group.After treatment,the scores of pain,activity,walking ability,and KSS in the observation group were higher than that of the control group (P < 0.05).There was no statistical significance on the stability between two groups.Before treatment,there were no statistical significance on the IL-6,IL-8,and TNF-α.After treatment,the IL-6,IL-8,and TNF-αt were increased in two groups (P < 0.05).And these indexes in the observation group were higher than that of the control group (P < 0.05).Conclusion In summary,Lamiophlomisrotata Dripping Pill combined with medical ozone had good effect on the knee osteoarthritis.It could release the pain,improve knee function and anti-inflammatory.It was worthy of clinical use.

20.
Article in Chinese | WPRIM | ID: wpr-607609

ABSTRACT

BACKGROUND: With the development of nanotechnology, silk fibroin/nano-hydroxyapatite composite materials used for tissue repair have been reported; however, there are few reports on its use in spinal stability.OBJECTIVE: To explore the feasibility of silk fibroin/nano-hydroxyapatite composite materials for the initial segmental stability of the reconstructed spine.METHODS: Thirty-six New Zealand rabbits were randomly divided into three groups, and the L4/5 nucleus pulposus was removed in all the animals. Autologous bone group was implanted with autologous bone, experimental group implanted intervertebrally with silk fibroin/nano-hydroxyapatite composite material, and control group implanted with hydroxyapatite.At 12 weeks after implantation, lumbar interbody fusion was observed using X-ray, the spinal stability of the fusion segments was measured by biomechanical test, and histologically, bone graft fusion and material degradation at the surgical site were observed.RESULTS AND CONCLUSION: (1) X-ray observation: In the autologous bone group, the experimental group and the control group, there were respectively 11, 7, 2 rabbits meeting the standard of fusion. (2) Biomechanical test: The spinal activity during flexion-extension was significantly lower in the experimental group than the autogenous bone group and control group (P < 0.05). (3) Histological observation: Bony union was found at the junction between the iliac bone and surrounding tissues in the autologous bone group, and a large number of bone cells and fibroblasts were found around the new bone, while woven bone was found inside. The material was partially degraded in the experimental group,fibrous tissues were visible in the surrounding tissue, new woven bone was found inside, and pit cells and bone cells were scattered. Blood vessel growth around the material was visible in the control group, and a large number of macrophages were found inside the material. To conclude, the silk fibroin/nano-hydroxyapatite composite material has good biocompatibility and mechanical properties, which could rebuild the initial segmental stability in the rabbit spine in the short time.

SELECTION OF CITATIONS
SEARCH DETAIL