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1.
Chinese Journal of Medical Genetics ; (6): 947-953, 2023.
Article in Chinese | WPRIM | ID: wpr-1009239

ABSTRACT

OBJECTIVE@#To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development (DSD).@*METHODS@#A total of 14 857 children with clinical features of DSD including short stature, cryptorchidism, hypospadia, buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022. Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children.@*RESULTS@#In total 423 children were found to harbor sex chromosome abnormalities, which has yielded a detection rate of 2.85%. There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. Among these, 325 were females with short stature as the main clinical manifestation, 2 were males with short stature, cryptorchidism and hypospadia as the main manifestations. Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. Nineteen cases (4.49%) had sex chromosome mosaicisms (XO/XY), which included 11 females with short stature, 8 males with hypospadia, and 6 cases with cryptorchidism, buried penis, testicular torsion and hypospadia. The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation.@*CONCLUSION@#Among children with DSD due to sex chromosomal abnormalities, sex chromosome characteristics consistent with Turner syndrome was most common, among which mosaicism (XO/XX) was the commonest. In terms of clinical manifestations, the females mainly featured short stature, while males mainly featured external genital abnormalities. Early diagnosis and treatment are particularly important for improving the quality of life in such children.


Subject(s)
Humans , Male , Female , Turner Syndrome/genetics , In Situ Hybridization, Fluorescence , Cryptorchidism , Hypospadias , Retrospective Studies , Quality of Life , Sex Chromosome Aberrations , Karyotyping , Mosaicism , Disorders of Sex Development/genetics
2.
Chinese Journal of Perinatal Medicine ; (12): 676-680, 2023.
Article in Chinese | WPRIM | ID: wpr-995154

ABSTRACT

Objective:To investigate the clinical features of neonatal testicular torsion and to evaluate the effect and necessity of early intervention.Methods:A retrospective analysis was performed on 11 neonates admitted to the Second Hospital of Shandong University with neonatal testicular torsion from June 2017 to June 2022. Clinical data of these cases including clinical manifestations, ultrasonography findings, surgical management and outcomes were reviewed and analyzed with descriptive statistical methods.Results:The median age of the 11 patients on admission was 2.6 d (1-5 d). The median time from finding abnormal scrotum to admission was 12 h (1-120 h). Various degrees of scrotal swelling or scleroma were found in the patients. Among them, seven patients presented with acute inflammatory signs of cyano sis or skin redness, and testis-like tissue induration could be touched. Ultrasound scan showed abnormal blood flow in the affected testicle in all cases. Emergency scrotal exploration under general anesthesia was performed successfully in all cases and ten of them underwent orchiectomy of the affected testicle plus contralateral orchiopexy. The rest one who was admitted within 1 h after birth only underwent orchiopexy of the affected testicle as the parents refused contralateral testicular exploration. During the operation, 12 twisted testis were observed, including seven with extravaginal torsion, three with intravaginal torsion and two adhering to the surrounding tissue without normal testicular tissue or distinguishable torsion direction or degree. In this study, ten patients had unilateral testicular torsion, which affected the left side in seven cases and the right side in three cases, and one had bilateral testicular torsion, which was diagnosed as left testicle torsion before surgery. During scrotal exploration, the left testicle of this bilateral case was resected due to necrosis, while the right testicle twisted about 180 degrees with good blood flow and was subjected to orchidopexy after reduction. In one case, the unaffected testicle was unfixed and dysplastic during contralateral exploration, which was also subjected to orchidopexy. In the 12 testis with torsion, one testicle of the patient admitted within 1 h after birth and the right testicle of the bilateral case were preserved with a salvage rate of 2/12. Pathological examination showed necrosis in the ten excised testis, and fibrosis and calcification foci in two of them. None of the patients had any perioperative complications and the scrotal incision healed well in all neonates. The patients were followed up for 6-12 months with regular ultrasound. The two preserved testis and the contralateral testis subjected to orchidopexy were located in the scrotum with good blood supply, and no torsion, atrophy or other abnormalities occurred.Conclusions:Neonatal testicular torsion is rarely seen in clinical practice and has no specific manifestations. It has a high excision rate due to testicular necrosis. Early diagnosis and bilateral scrotal exploration are crucial to the prognosis and the keys to save the affected testis and avoid anorchidism.

3.
Chinese Journal of Dermatology ; (12): 112-117, 2023.
Article in Chinese | WPRIM | ID: wpr-994452

ABSTRACT

Objective:To compare the efficacy and safety of biologics versus methotrexate in the treatment of severe pediatric plaque psoriasis.Methods:A retrospective matched case-control study was carried out. Twenty children with severe plaque psoriasis from Beijing Children′s Hospital, Capital Medical University from June 2016 to November 2021 were included in this study, and the patients treated with biologics (adalimumab or secukinumab) were matched with those treated with methotrexate at a ratio of 1∶1 according to the psoriasis area and severity index (PASI) score and age. PASI, physician′s global assessment (PGA) , and body surface area (BSA) scores were assessed at weeks 4, 8 and 12 after the start of treatment, and adverse drug reactions were recorded. Statistical analysis was mainly carried out by using Mann-Whitney U test, Fisher′s exact test and generalized estimating equations. Results:At weeks 4 and 8, the proportions of patients achieving PASI75 and PASI90 were significantly higher in the biologics group (PASI75: 7/10, 10/10, PASI90: 5/10, 9/10, respectively) than in the methotrexate group (PASI75: 1/10, 5/10, PASI90: 0, 1/10, respectively; all P < 0.05) , while there was no significant difference between the biologics group and methotrexate group at week 12 (PASI75: 10/10 vs. 8/10, PASI90: 9/10 vs. 4/10, both P > 0.05) . There were no significant differences in the PASI, BSA or PGA scores between the two groups at baseline (all P > 0.05) , while the biologics group showed significantly decreased PASI and BSA scores at weeks 4, 8 and 12, and significantly decreased PGA score at week 8 compared with the methotrexate group (PASI: Z = 2.50, 3.56, 2.63, respectively; BSA: Z = 2.87, 3.57, 2.40, respectively; PGA: Z = 2.81; all P<0.05) . Analysis of changes over time showed that the PASI, PGA and BSA scores in the biologics group significantly decreased at weeks 4, 8 and 12 compared with those at baseline (all P<0.01) ; the PASI and PGA scores significantly decreased at weeks 8 and 12 compared with the corresponding scores at week 4 (all P<0.05) ; however, there were no significant differences in the PASI, PGA or BSA scores between week 12 and 8 (all P>0.05) . In the methotrexate group, the PASI, PGA and BSA scores at weeks 4, 8 and 12 were all significantly lower than the corresponding scores at the previous adjacent time points (all P<0.05) . There was no significant difference in the incidence of adverse reactions between the two groups ( P = 0.650) , and no serious adverse reactions occurred in either group. The main adverse reaction was infection in the biologics group, while infection and elevation of transaminase levels were common in the methotrexate group. Conclusion:Biologics and methotrexate were both effective and safe for the treatment of severe pediatricplaque psoriasis, and biologics facilitated rapider achievement of PASI75 and PASI90 compared with methotrexate.

4.
Chinese Journal of Biotechnology ; (12): 713-723, 2023.
Article in Chinese | WPRIM | ID: wpr-970402

ABSTRACT

Iron (Fe) deficiency and excess cadmium (Cd) in rice grain are important problems to be solved in agricultural production. Previous studies have shown that OsVIT1 and OsVIT2 are vacuolar iron transporters. In this study, wild-type ZH11 was selected as the background material and OsVIT1 and OsVIT2 were overexpressed in endosperm by using endosperm specific promoter Glb-1. Field experiments were conducted to study the effect of OsVIT1 and OsVIT2 overexpression on Fe and Cd accumulation in different parts of rice. The results showed that OsVIT1 overexpression in endosperm significantly reduced Fe content in grain by about 50%, while significantly increased zinc (Zn) and copper (Cu) contents in straw and Cu content in grain. OsVIT2 overexpression in endosperm significantly decreased Fe and Cd contents in grain by about 50%, and significantly increased Fe content in straw by 45%-120%. Overexpression of OsVIT1 and OsVIT2 in endosperm did not affect the agronomic traits of rice. In conclusion, OsVIT1 and OsVIT2 overexpression in endosperm reduced Fe accumulation in rice grain, which did not achieve the expected effect. OsVIT2 overexpression in endosperm also decreased Cd accumulation in grain and increased Fe accumulation in straw, which provided reference for iron biofortification and cadmium reduction in rice.


Subject(s)
Cadmium , Endosperm/chemistry , Oryza/genetics , Iron , Zinc , Edible Grain , Soil Pollutants
5.
International Journal of Traditional Chinese Medicine ; (6): 272-277, 2023.
Article in Chinese | WPRIM | ID: wpr-989622

ABSTRACT

Objective:To explore the clinical characteristics and distribution of Tranditional Chinese Medicine (TCM) syndrome types of refractory tic disorders in children based on clustering analysis.Methods:A cross-sectional study. 183 children aged 3-18 years with refractory tic disorders from pediatric encephalopathy outpatient department of the First Teaching Hospital of Tianjin University of Traditional Chinese Medicine who met the inclusion criteria from October 2015 to January 2022 were recruited. Frequency descriptive analysis, systematic clustering analysis and principal component analysis were conducted by Microsoft Office Excel 2016 and IBM SPSS Statistics 26.0 to explore the clinical characteristics and syndrome distribution of the disease.Results:The TCM symptoms of 183 children with refractory tic disorders were clustered into 6 categories, and finally 5 types of syndrome were obtained, among which the syndrome of spleen deficiency and liver hyperactivity mixed with dampness accounted for the largest proportion (27.32%), followed by the syndrome of phlegm-fire disturbing spirit (21.31%), the syndrome of wind-heat invading lung (18.03%), the syndrome of phlegm-qi stagnation (17.49%), and the syndrome of dampness and yin deficiency (15.85%).Conclusion:Through the mining and analysis of the outpatient information of pediatric encephalopathy in our hospital, the common syndrome differentiation types of refractory tic disorder are obtained, which can provide a reference for the TCM syndrome differentiation types of refractory tic disorder in children.

6.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 271-275, 2022.
Article in Chinese | WPRIM | ID: wpr-931610

ABSTRACT

Objective:To investigate the effects of SuperPATH approach versus conventional posterolateral approach in total hip replacement on inflammatory response, hip function, and quality of life in patients with hip diseases. Methods:The clinical data of 140 patients with hip diseases who underwent total hip replacement in Shanxian Central Hospital from March 2017 to May 2019 were retrospectively analyzed. These patients were divided into SuperPATH approach ( n = 70) and posterolateral approach ( n = 70) groups. Operation-related indexes, inflammatory response indexes, hip function, quality of life, and pain were compared between the two groups. Results:Intraoperative blood loss was significantly less in the SuperPATH approach group than in the posterolateral approach group [(105.40 ± 15.11) mL vs. (196.89 ± 24.26) mL, t = 26.74, P < 0.001]. Incision length, postoperative time to getting out of bed, length of hospital stay in the SuperPATH approach group were (6.85 ± 1.42) cm, (2.92 ± 0.28) days, and (6.67 ± 1.36) days, respectively, which were significantly shorter than those in the posterolateral approach group [(13.07 ± 1.89) cm, (8.36 ± 1.45) days, (10.91 ± 1.34) days, t = 19.36, 30.82, 18.58, P < 0.001]. Operative time was significantly longer in the SuperPATH approach group than in the posterolateral approach group [(69.38 ± 8.62) minutes vs. (60.45 ± 7.79) minutes, t = 6.43, P < 0.001). The scores of social role functioning, general health perceptions, vitality, mental health, bodily pain, emotional role functioning, physical functioning, and physical functioning measured 6 months after surgery were significantly higher in the SuperPATH approach group than in the posterolateral approach group ( t = 9.12, 11.80, 11.64, 11.69, 6.45, 11.79, 6.04, 10.74, all P < 0.001). There were no significant differences in C-reactive protein and erythrocyte sedimentation rate measured 3 and 14 days after surgery between the two groups (both P > 0.05). Harris score used for evaluation of hip function 1 month after surgery was significantly higher in the SuperPATH approach group than in the posterolateral approach group [(76.42 ± 4.17) points vs. (69.37 ± 5.11) points, t = 8.94, P < 0.001]. The Visual Analog Scale score 3 days after surgery was significantly lower in the SuperPATH approach group than in the posterolateral approach group [(3.18 ± 0.21) points vs. (4.26 ± 0.29) points, t = 25.23, P < 0.001]. Conclusion:Compared with the conventional posterolateral approach, the SuperPATH approach for total hip arthroplasty takes longer operative time, but it can better reduce early postoperative pain, promote hip function recovery, and improve quality of life.

7.
Chinese Journal of Medical Genetics ; (6): 581-584, 2021.
Article in Chinese | WPRIM | ID: wpr-879631

ABSTRACT

OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.


Subject(s)
Child , Humans , Male , Chromosome Banding , Cytogenetic Analysis , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping
8.
Chinese Journal of Medical Genetics ; (6): 373-375, 2021.
Article in Chinese | WPRIM | ID: wpr-879590

ABSTRACT

OBJECTIVE@#To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder.@*METHODS@#The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses.@*RESULTS@#The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.3::21p13→ 21p10::20p10→ 20pter), der(20) (21qter→ 21q10::20q10→ 20qter).@*CONCLUSION@#A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.


Subject(s)
Child , Humans , Male , Chromosome Deletion , Chromosomes , Chromosomes, Human, Pair 2 , In Situ Hybridization, Fluorescence , Karyotyping , Translocation, Genetic
9.
Chinese Journal of Medical Genetics ; (6): 74-77, 2021.
Article in Chinese | WPRIM | ID: wpr-879527

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software.@*RESULTS@#Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5).@*CONCLUSION@#The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.


Subject(s)
Child , Female , Humans , Male , Carbon-Carbon Ligases/genetics , Mutation, Missense/genetics , Pedigree , Urea Cycle Disorders, Inborn/genetics
10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1598-1600, 2021.
Article in Chinese | WPRIM | ID: wpr-908021

ABSTRACT

Cutaneous sterile pustulosis is categorized as a non-infectious and non-follicular impetigo, with a low prevalence and difficulty in the treatment.Deficiency of interleukin(IL)-36 receptor antagonist (DITRA) is an auto inflammatory disease featured by the decreased interleukin-36 receptor antagonist (IL-36Ra) activity caused by IL36 RN mutation.Functional or structural defects of IL-36Ra increase the secretion of inflammatory and pro-inflammatory factors by keratinocytes, macrophages and dendritic cells.Upregulation of IL-36 receptor agonists induce type 17 helper T lymphocytes to secrete IL-17, which is essential for the onset of multiple subtypes of aseptic pustulosis.Research on the relationship between DITRA and cutaneous sterile pustulosis is important for developing targeted therapies.

11.
Journal of Clinical Hepatology ; (12): 2802-2807, 2021.
Article in Chinese | WPRIM | ID: wpr-906866

ABSTRACT

Objective To observe the 24-week survival status of patients with hepatitis B virus-related acute-on-chronic liver failure (HBV-ACLF) treated with plasma exchange (PE) and double plasma molecular adsorption system (DPMAS) alone or in combination, and to establish a predictive model for 24-week prognosis. Methods Related clinical data were collected from 133 patients with HBV-ACLF who received PE and DPMAS alone or in combination in The Affiliated Provincial Hospital of Anhui Medical University from January 2015 to December 2019, and according to the survival status at the 24-week follow-up after treatment, they were divided into survival group with 71 patients and death group with 62 patients. A total of 55 patients with HBV-ACLF who received PE and DPMAS alone or in combination in The Second Affiliated Hospital of Anhui Medical University from January 2018 to January 2020 were enrolled as validation group to validate the performance of the model. Related clinical data included mode of artificial liver support therapy, age, sex, total bilirubin (TBil), international normalized ratio (INR), creatinine (Cr), serum sodium, platelet count (PLT), albumin (Alb), and presence or absence of ascites, hepatorenal syndrome, hepatic encephalopathy, and gastrointestinal bleeding. The t -test was used for comparison of normally distributed continuous data between two groups, and the Wilcoxon rank-sum test was used for comparison of continuous data with skewed distribution between two groups; the chi-square test and the Fisher's exact test were used for comparison of categorical data between groups. The Cox regression model was used to analyze the influencing factors for the prognosis of HBV-ACLF patients after PE and DPMAS alone or in combination and establish a predictive model; the receiver operator characteristic (ROC) curve was plotted and the DeLong method was used to compare the area under the ROC curve (AUC) between the new predictive model and Model for End-Stage Liver Disease (MELD)/MELD combined with serum sodium concentration (MELD-Na) scores. Results At 24 weeks after treatment, 71 patients survived and 62 patients died in the modeling group. The Cox regression analysis showed age (hazard ratio [ HR ]=1.030, P =0.013), TBil ( HR =1.018, P < 0.001), INR ( HR =1.517, P < 0.001), and PLT ( HR =0.993, P =0.04) were independent influencing factors for 24-week survival. According to the results of the Cox regression analysis, a prognostic model for HBV-ACLF patients treated with PE and DPMAS alone or in combination was established as ATIP=0.029×age (years)+0.018×TBil (mg/dL)+0.417×INR-0.007×PLT (10 9 /L). Both the modeling group and the validation group showed that the ATIP model had a better predictive performance than MELD and MELD-NA scores(all P < 0.05). Conclusion Age, TBil, INR, and PLT are independent influencing factors for the 24-week survival of HBV-ACLF patients treated with PE and DPMAS alone or in combination, and the ATIP model has a good performance in predicting the 24-week prognosis of HBV-ACLF patients treated with PE and DPMAS alone or in combination.

12.
Cancer Research and Clinic ; (6): 760-765, 2020.
Article in Chinese | WPRIM | ID: wpr-872583

ABSTRACT

Objective:To investigate the expressions and significances of transforming growth factor β 1 (TGF-β 1) and dimethylarginine dimethylaminohydrolase 2 (DDAH2) in different stages of early-stage lung adenocarcinoma, and to provide basis for accurate pathological diagnosis of lung adenocarcinoma. Methods:Sixty-two surgical specimens from patients with early-stage lung adenocarcinoma in Shanxi Bethune Hospital from January 2012 to June 2019 were selected. Most of the specimens contained more than one pathological type. According to the pathological types, they were divided into three groups: 18 cases of atypical adenomatous hyperplasia (AAH), 60 cases of adenocarcinoma in situ (AIS), and 55 cases of invasive carcinoma (CA) component in minimally invasive adenocarcinoma (MIA) and lepidic predominant adenocarcinoma (LPA), and the wall attached growth patterns were selected as control group. Immunohistochemistry was used to detect the expressions of TGF-β 1 and DDAH2 proteins in different pathological types of lesions and control tissues, and the correlation among them was analyzed. Results:TGF-β 1 and DDAH2 proteins were expressed in normal lung tissue epithelial cells, and the positive rates were high [46.8% (29/62) and 98.4% (61/62)]. The positive rates of TGF-β 1 and DDAH2 proteins in epithelial cells of AAH, AIS and CA increased gradually, the positive rate of TGF-β 1 protein was 16.7% (3/18), 31.7% (19/60) and 70.9% (39/55), the positive rate of DDAH2 protein was 66.6% (12/18), 81.7% (49/60) and 90.1% (49/55), and the differences of positive rates among different pathological types were statistically significant (all P < 0.01). The positive rates of TGF-β 1 and DDAH2 protein in interstitial fibroblasts of normal lung tissue, AAH, AIS and CA increased gradually, the positive rate of TGF-β 1 protein was 11.3% (7/62), 61.1% (11/18), 72.3% (44/60), and 83.6% (46/55), the positive rate of DDAH2 protein was 0 (0/62), 22.2% (4/18), 65.0% (39/60), and 98.2% (54/55), and the differences of positive rates among different pathological types were statistically significant (all P < 0.01). In lung adenocarcinoma tissues, there was a positive correlation between the expression of TGF-β 1 in epithelial cells and the expression of DDAH2 in interstitial fibroblasts ( r = 0.221, P = 0.011). Conclusions:The expression trend of TGF-β 1 and DDAH2 proteins in different pathological types of early-stage lung adenocarcinoma lesions may relate to the degree of lesions. The combined detection of TGF-β 1 and DDAH2 proteins is expected to be a biomarker for the auxiliary diagnosis of early-stage lung adenocarcinoma with different pathological types.

13.
Chinese Journal of Postgraduates of Medicine ; (36): 126-130, 2020.
Article in Chinese | WPRIM | ID: wpr-865456

ABSTRACT

Objective To investigate the correlation between serum asymmetric dimethylarginine (ADMA) and cystatin C (CysC) in degenerative calcific aortic valvular disease and its clinical application value.Methods One hundred and eighty patients with degenerative calcific aortic valvular disease who were treated in Beijing Luhe Hospital Affiliated to Capital Medical University from June 2016 to June 2018 were selected as the study subjects,and another 82 healthy subjects from the same hospital in the same period were selected as the control group.Serum ADMA and CysC levels were detected by enzyme-linked immunosorbent assay and latex-enhanced immunoturbidimetric assay.Risk factors of degenerative calcific aortic valvular disease were analyzed by Logistic regression analysis.Evaluation of the diagnostic efficacy of serum ADMA and CysC for degenerative calcific aortic valvular disease was used by receiver operating characteristic curve.Results There were no significant differences in the general data between the two groups in terms of age,gender,body mass index,drinking history,smoking history,and history of hypertension (P> 0.05).The systolic blood pressure(SBP),diastolic blood pressure (DBP),heart rate (HR),total cholesterol (TC),triglyceride (TG),low density lipoprotein cholesterin(LDL-C),CysC and ADMA levels of the study group were significantly higher than those of the control group [(131.51 ± 19.09) mmHg (1 mmHg=0.133 kPa) vs.(126.48 ± 16.68) mmHg,(91.11 ± 16.35) mmHg vs.(86.89 ± 10.71) mmHg,(74.39 ± 15.22) beats/min vs.(70.09 ± 13.01)beats/min,(4.51 ± 1.12) mmol/L vs.(4.15 ± 0.92) mmol/L,(1.91 ± 0.63) mmol/L vs.(1.60 ± 0.65) mmol/L,(2.59 ± 1.13) mmol/L vs.(2.27 ± 0.85) mmol/L,(1.01 ± 0.22) mg/L vs.(0.79 ± 0.16) mg/L,(20.17 ± 6.38)ng/L vs.(11.88 ± 4.22) ng/L],and left ventricular ejection fraction (LVEF),high density lipoprotein cholesterin (HDL-C) levels were significantly lower than those of the control group [(56.45 ± 9.21)%vs.(60.87 ± 10.02)%,(1.56 ± 0.63) mmol/L vs.(1.76 ± 0.62) mmol/L],there were significant differences (P < 0.05).Logistic multivariate regression analysis showed that serum CysC and ADMA were independent risk factors for degenerative calcific aortic valvular disease (P < 0.05).Receiver operator characteristic (ROC) curve analysis showed that area under curve (AUC) of serum CysC for degenerative valvular heart disease was 0.785,with a sensitivity of 71.67%,and a specificity of 73.17%.The AUC of serum ADMA for degenerative valvular heart disease was 0.862,with a sensitivity of 71.67%,and a specificity of 87.80%.The AUC of serum CysC combined with ADMA in the diagnosis of degenerative valvular heart disease was 0.910,with a sensitivity of 85.56%,and a specificity of 84.15%,which was significantly higher than the two alone (Z =4.897 and 3.335,P < 0.05).Conclusions Serum ADMA is positively correlated with CysC in patients with degenerative valvular heart disease,and can be used as diagnostic serum markers for degenerative calcific aortic valvular disease.It has clinical reference value for improving the diagnosis of degenerative calcific aortic valvular disease.

14.
Chinese Journal of Postgraduates of Medicine ; (36): 126-130, 2020.
Article in Chinese | WPRIM | ID: wpr-799621

ABSTRACT

Objective@#To investigate the correlation between serum asymmetric dimethylarginine (ADMA) and cystatin C (CysC) in degenerative calcific aortic valvular disease and its clinical application value.@*Methods@#One hundred and eighty patients with degenerative calcific aortic valvular disease who were treated in Beijing Luhe Hospital Affiliated to Capital Medical University from June 2016 to June 2018 were selected as the study subjects, and another 82 healthy subjects from the same hospital in the same period were selected as the control group. Serum ADMA and CysC levels were detected by enzyme-linked immunosorbent assay and latex-enhanced immunoturbidimetric assay. Risk factors of degenerative calcific aortic valvular disease were analyzed by Logistic regression analysis. Evaluation of the diagnostic efficacy of serum ADMA and CysC for degenerative calcific aortic valvular disease was used by receiver operating characteristic curve.@*Results@#There were no significant differences in the general data between the two groups in terms of age, gender, body mass index, drinking history, smoking history, and history of hypertension (P>0.05). The systolic blood pressure(SBP), diastolic blood pressure (DBP), heart rate (HR), total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterin(LDL-C), CysC and ADMA levels of the study group were significantly higher than those of the control group [(131.51 ± 19.09) mmHg (1 mmHg=0.133 kPa) vs. (126.48 ± 16.68) mmHg, (91.11 ± 16.35) mmHg vs. (86.89 ± 10.71) mmHg, (74.39 ± 15.22) beats/min vs. (70.09 ± 13.01) beats/min, (4.51 ± 1.12) mmol/L vs. (4.15 ± 0.92) mmol/L, (1.91 ± 0.63) mmol/L vs. (1.60 ± 0.65) mmol/L, (2.59 ± 1.13) mmol/L vs. (2.27 ± 0.85) mmol/L, (1.01 ± 0.22) mg/L vs. (0.79 ± 0.16) mg/L, (20.17 ± 6.38) ng/L vs. (11.88 ± 4.22) ng/L], and left ventricular ejection fraction (LVEF), high density lipoprotein cholesterin (HDL-C) levels were significantly lower than those of the control group [(56.45 ± 9.21)%vs. (60.87 ± 10.02)%, (1.56 ± 0.63) mmol/L vs. (1.76 ± 0.62) mmol/L], there were significant differences (P<0.05). Logistic multivariate regression analysis showed that serum CysC and ADMA were independent risk factors for degenerative calcific aortic valvular disease (P<0.05). Receiver operator characteristic (ROC) curve analysis showed that area under curve (AUC) of serum CysC for degenerative valvular heart disease was 0.785, with a sensitivity of 71.67%, and a specificity of 73.17%. The AUC of serum ADMA for degenerative valvular heart disease was 0.862, with a sensitivity of 71.67%, and a specificity of 87.80%. The AUC of serum CysC combined with ADMA in the diagnosis of degenerative valvular heart disease was 0.910, with a sensitivity of 85.56%, and a specificity of 84.15%, which was significantly higher than the two alone (Z=4.897 and 3.335, P<0.05).@*Conclusions@#Serum ADMA is positively correlated with CysC in patients with degenerative valvular heart disease, and can be used as diagnostic serum markers for degenerative calcific aortic valvular disease. It has clinical reference value for improving the diagnosis of degenerative calcific aortic valvular disease.

15.
International Journal of Traditional Chinese Medicine ; (6): 26-30, 2020.
Article in Chinese | WPRIM | ID: wpr-799240

ABSTRACT

Objective@#To observe the temperature changes of skin on patients with cold and dampness syndrome by using the non-contact infrared human body thermometer and infrared thermal imager to treat the patients with cold and dampness syndrome by Jin-Bohua national famous Chinese medicine practitioners using the "Mountain Burning Manipulation by Jin-Shi" method to clarify the clinical thermal effects of the "Heat-producing Needling" method.@*Methods@#This study included sixty patients with cold and dampness syndrome who met the enrollment conditionsfrom November 2015 to October 2017. In a room with fixed temperature, the patients were treated by "Heat-producing Needling" method. By using a non-contact infrared human body thermometer and infrared thermal imaging technology, this study observed the skin temperature changes in Quchi and Hegu, Zusanli and Chongyang before needling, immediately afterneedling, 15 minutes after needling, and 30 minutes after needling.@*Results@#After the "Mountain Burning Manipulation by Jin-Shi" treatment, the temperature of local skin surface at acupoints of upper and lower limbs increased with different degrees and the skin temperature reached the highest level when the needle was kept for 15 minutes. The upper limbs' result indicated that skin temperature increased with significant differences in acupuncture of Quchi point for immediately, 15 minutes and 30 minutes as compared with that before acupuncture. It was found that the skin temperature at Hegu point for 15 minutes have a significant increase than before and immediately after acupuncture. The skin temperature of Hegu point lasted 30 minutes, which was significantly higher than before and immediately after acupuncture. Compared with Hegu point, Quchi point has higher skin temperature immediately after acupuncture (t=3.793, P=0.034). The lower limbss' results indicated that skin temperature at Zusanli point increased with significant differences in Zusanli point for immediately needling, 15 minutes and 30 minutes as compared respectively with that beforeneedling. It was found that the skin temperature at Chongyang point for 15 minutes had a significant increase than before and immediately after acupuncture. The skin temperature at Chongyang point for 15 mins had a significant increase than before and immediately afterneedling. The skin temperature of Zusanli point was higher than that of Chongyang point (t=3.794, P=0.034) immediately afterneedling.@*Conclusions@#This study demonstrates that the "Mountain Burning Manipulation by Jin-Shi" method has a clear clinical thermal effect on both local and peripheral longitude of patients with cold dampness syndrome.

16.
Acta Pharmaceutica Sinica B ; (6): 2313-2322, 2020.
Article in English | WPRIM | ID: wpr-881113

ABSTRACT

Prostate cancer (PCa) patients who progress to metastatic castration-resistant PCa (mCRPC) mostly have poor outcomes due to the lack of effective therapies. Our recent study established the orphan nuclear receptor ROR

17.
International Journal of Traditional Chinese Medicine ; (6): 26-30, 2020.
Article in Chinese | WPRIM | ID: wpr-863551

ABSTRACT

Objective:To observe the temperature changes of skin on patients with cold and dampness syndrome by using the non-contact infrared human body thermometer and infrared thermal imager to treat the patients with cold and dampness syndrome by Jin-Bohua national famous Chinese medicine practitioners using the "Mountain Burning Manipulation by Jin-Shi" method to clarify the clinical thermal effects of the "Heat-producing Needling" method. Methods:This study included sixty patients with cold and dampness syndrome who met the enrollment conditionsfrom November 2015 to October 2017. In a room with fixed temperature, the patients were treated by "Heat-producing Needling" method. By using a non-contact infrared human body thermometer and infrared thermal imaging technology, this study observed the skin temperature changes in Quchi and Hegu, Zusanli and Chongyang before needling, immediately afterneedling, 15 minutes after needling, and 30 minutes after needling. Results:After the "Mountain Burning Manipulation by Jin-Shi" treatment, the temperature of local skin surface at acupoints of upper and lower limbs increased with different degrees and the skin temperature reached the highest level when the needle was kept for 15 minutes. The upper limbs' result indicated that skin temperature increased with significant differences in acupuncture of Quchi point for immediately, 15 minutes and 30 minutes as compared with that before acupuncture. It was found that the skin temperature at Hegu point for 15 minutes have a significant increase than before and immediately after acupuncture. The skin temperature of Hegu point lasted 30 minutes, which was significantly higher than before and immediately after acupuncture. Compared with Hegu point, Quchi point has higher skin temperature immediately after acupuncture ( t=3.793, P=0.034). The lower limbss' results indicated that skin temperature at Zusanli point increased with significant differences in Zusanli point for immediately needling, 15 minutes and 30 minutes as compared respectively with that beforeneedling. It was found that the skin temperature at Chongyang point for 15 minutes had a significant increase than before and immediately after acupuncture. The skin temperature at Chongyang point for 15 mins had a significant increase than before and immediately afterneedling. The skin temperature of Zusanli point was higher than that of Chongyang point ( t=3.794, P=0.034) immediately afterneedling. Conclusions:This study demonstrates that the "Mountain Burning Manipulation by Jin-Shi" method has a clear clinical thermal effect on both local and peripheral longitude of patients with cold dampness syndrome.

18.
Chinese Journal of Medical Genetics ; (6): 1077-1080, 2019.
Article in Chinese | WPRIM | ID: wpr-800857

ABSTRACT

Objective@#To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML).@*Methods@#Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR).@*Results@#Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P<0.05).@*Conclusion@#Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.

19.
Chinese Journal of Geriatrics ; (12): 985-988, 2019.
Article in Chinese | WPRIM | ID: wpr-797875

ABSTRACT

Objective@#To conduct a clinical analysis of off-pump coronary artery bypass grafting(CABG)in elderly patients with diabetes mellitus.@*Methods@#Clinical data of 115 elderly patients with or without diabetes mellitus undergone off-pump CABG from January 2012 to June 2018 were retrospectively analyzed.The impact of diabetes mellitus on the prognosis in elderly patients undergone off-pump CABG was analyzed.@*Results@#Compared with elderly non-diabetic patients, the incidences of pulmonary infection, perioperative myocardial infarction, neurological complications, psychiatric symptoms, low cardiac output syndrome, rethoracotomy, respiratory failure, arrhythmia, postoperative 30-day mortality, blood transfusion volume, mechanical ventilation time, postoperative 24-hour drainage volume, the length of hospital stay and large doses of dopamine usage(>10 μg·kg-1·min-1)increased lightly in elderly diabetic patients after off-pump CABG, but the difference had no statistical significance(all P>0.05). The incidences of postoperative renal insufficiency and incision complications were higher in elderly diabetic patients than in elderly non-diabetic patients(χ2=3.736、1.237, P=0.021、0.037).@*Conclusions@#Off-pump CABG is safe and effective for elderly diabetic patients if their blood glucose levels are controlled reasonably well.

20.
Cancer Research and Clinic ; (6): 372-375, 2019.
Article in Chinese | WPRIM | ID: wpr-756760

ABSTRACT

Objective To investigate the expressions of HOXA11 and β-catenin proteins in colorectal serrated lesions and their roles in carcinogenesis. Methods A total of 252 cases of colorectal biopsy specimens in Shanxi Dayi Hospital from January 2012 to December 2016 were analyzed retrospectively, including 97 serrated lesions, 46 common adenomas, 109 adenocarcinomas, and 24 normal colorectal mucosa tissues were selected as controls. The expressions of HOXA11 and β-catenin proteins were detected by immunohistochemical EnVision method. Methylation of HOXA11 gene was detected by specific methylation polymerase chain reaction (MSP) in 25 paraffin-embedded adenocarcinoma tissues. Results In 97 serrated lesions, 29 (29.9%) occurred in the left colon;in 46 common adenomas, 27 (58.7%) occurred in the left colon;in 109 adenocarcinomas, 76 (69.7%) occured in the left colon. The difference of the occurrence location among three groups was statistically significant (χ2 = 34.75, P< 0.01). The heterotopic expression rate ofβ-catenin protein in serrated lesions, common adenomas and adenocarcinomas was significantly higher than that in normal mucosae [96.9% (94/97), 82.6% (38/46), 86.2% (94/109) vs. 0 (0/24), P < 0.01]. The heterotopic expression of β-catenin protein was found in serrated lesions and the co-expression of cytoplasm and nucleus was found in common adenomas and adenocarcinomas. The normal expression rate of HOXA11 protein in serrated lesions, common adenomas and adenocarcinomas was lower than that in normal mucosae [33.0% (32/97), 67.4% (31/46), 48.6% (53/109) vs. 100.0% (24/24), all P< 0.05]. The methylation rate of HOXA11 gene was 84.0% (21/25). Conclusion The ectopic expression of β-catenin in colorectal serrated lesions suggests that it is associated with serrated lesions, and the low expression of HOXA11 may be an early event in the carcinogenesis of serrated lesions.

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