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1.
Article in Chinese | WPRIM | ID: wpr-928439

ABSTRACT

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.


Subject(s)
Amniotic Fluid , Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Genomics , Humans , Pregnancy , Pregnancy Trimester, Second , Pregnant Women , Prenatal Diagnosis/methods , Technology
2.
Article in Chinese | WPRIM | ID: wpr-923450

ABSTRACT

@#Objective    To analyze the efficacy and safety of Toumai® endoscopic surgery robot in right upper lobe resection. Methods    The clinical data of 2 patients with non-small cell lung cancer who received right upper lobe resection with Toumai® endoscopic surgery robot in Shanghai Chest Hospital, Shanghai Jiao Tong University in November 2021 were retrospectively analyzed. Both patients were male, aged 66 years and 44 years, respectively. Results    The operation was successful in both patients with no conversion to thoracotomy, surgical complication or death. The operation time was 65 min and 48 min, and the amount of intraoperative bleeding was 80 mL and 50 mL, respectively. The postoperative hospital stay was 3 days. There was no blood transfusion during the perioperative period. Conclusion    The application of Toumai® endoscopic surgery robot in lobectomy is preliminarily proved to be safe and effective. Compared with Da Vinci robotic surgery system, it has similar clear 3D vision and flexible and stable operation, which can become one of the important choices for the new generation of minimally invasive chest surgery.

3.
Article in Chinese | WPRIM | ID: wpr-912432

ABSTRACT

Objective:To detect the pathogenic gene of the three pedigrees with hereditary multiple exostosis, and to provide evidences for genetic counselling and prenatal diagnosis.Methods:The three families were admitted to the Institute of Medical Genetics of Henan Provincial People′s Hospital due to hereditary multiple exostosis from January 2018 to December 2020. Detail medical history and the blood samples of the family members were collected after they signed the informed consent forms. The pathological mutations were selected from the proband using whole exome sequencing (WES). Sanger sequencing was used to conduct the co-segregation analysis of the family members. The pathogenicity of the mutation was analyzed in combination with ACMG guidelines.Results:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were detected in the probands through whole exome sequencing. The same mutations were found in the patients from these three families, while the mutation was not detected among the healthy family members. These variations have co-segregated with the disease phenotype. According to ACMG guidelines, all mutations in these three families meet the criteria of pathogenic variations. Conclusion:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were identified to be responsible for hereditary multiple exostosis in these families.

4.
Acta Pharmaceutica Sinica B ; (6): 3272-3285, 2021.
Article in English | WPRIM | ID: wpr-922793

ABSTRACT

Co-delivery of chemotherapeutics and immunostimulant or chemoimmunotherapy is an emerging strategy in cancer therapy. The precise control of the targeting and release of agents is critical in this methodology. This article proposes the asynchronous release of the chemotherapeutic agents and immunostimulants to realize the synergistic effect between chemotherapy and immunotherapy. To obtain a proof-of-concept, a co-delivery system was prepared

5.
Article in Chinese | WPRIM | ID: wpr-906488

ABSTRACT

Objective:This study aims to investigate the clinical effect of addition and subtraction therapy of Zhibai Dihuangwan combined with Wulingsan in the treatment of refractory nephrotic syndrome (RNS) with Yin deficiency of liver and kidney and its regulatory effect on immune inflammatory response. Method:In this study, 108 children were randomly divided into observation group (54 cases) and control group (54 cases). Patients in two groups were treated with prednisone acetate tablets combined with tacrolimus capsules . Patients in control group took Liuwei Dihuang oral liquid, 5-10 mL/time, twice a day. Patients in control group were prescribed the addition and subtraction therapy of Zhibai Dihuangwan combined with Wulingsan, 1 dose/day. The course of treatment for both groups was 6 months. The 24 h urine total protein (24 h-UTP), serum albumin (ALB), serum creatinine (Scr), blood urea nitrogen (BUN), total cholesterol (TC), triglyceride (TG), low density lipoprotein (LDL), high density lipoprotein (HDL), liver and kidney Yin deficiency syndrome score, fibrinogen (FIB), <italic>D</italic>-dimer (<italic>D</italic>-D), prothrombin time (PT) and activated partial thromboplastin time (APTT) were compared before and after treatment. Also, tumor necrosis factor-<italic>α</italic> (TNF- <italic>α</italic>), interleukin-6(IL-6), IL-10, IL-17, CD4<sup>+</sup> and CD8<sup>+</sup>, helper T lymphocytes17 (Th17), regulatory T cell (Treg) were detected before and after treatment, and CD4<sup>+</sup>/CD8<sup>+ </sup>and<sup> </sup>Th17/Treg were also calculated. Result:The levels of 24 h-UTP, TC, TG, LDL, FIB, <italic>D</italic>-D, TNF-<italic>α</italic>, IL-10, IL-6 and IL-17 in observation group were all lower than those in control group (<italic>P</italic><0.01), and the levels of CD8<sup>+</sup>, Th17 and Th17/Treg were alsolower than those in control group (<italic>P</italic><0.05). While the levels of HDL,ALB, CD4<sup>+</sup>, Treg and CD4<sup>+</sup>/CD8<sup>+</sup> in observation group were higher than those in control group (<italic>P</italic><0.05). The comprehensive efficacy in observation group was better than that in control group (<italic>Z</italic>=2.02, <italic>P</italic><0.05), and the traditional Chinese medicine (TCM) syndrome efficacy of observation group was better than that of control group (<italic>Z</italic>=2.10, <italic>P</italic><0.05). Conclusion:Based on the treatment of hormone combined with Tacrolimus, Zhibai Dihuangwan combined with Wulingsan can reduce urinary protein, improve lipid metabolism disorder and hypercoagulability, and regulate immune inflammatory reaction in patients with RNS and Yin deficiency of liver and kidney, with remarkable comprehensive effect and TCM syndrome effect.

6.
Acta Pharmaceutica Sinica ; (12): 2553-2560, 2021.
Article in Chinese | WPRIM | ID: wpr-886947

ABSTRACT

Influenza A virus (H1N1) seriously affects the health of human and disrupts the development of global economic. The antimicrobial peptide urumin specifically binds to the conserved stem of the hemagglutinin (HA) protein of H1N1 virus, but its binding site and the mechanism of action are not clear. In this study, we investigated the possible binding sites and key amino acids for the interaction of urumin with HA protein by molecular docking and enzyme-linked immunosorbent assay (ELISA) experiments, suggesting that HA residues His32 (HA1), Asp19 (HA2), and Trp21 (HA2) are the key residues for the interaction of HA with urumin. Urumin's Arg4, Asn9, and Cys16 were associated with HA protein residues Asp19 (HA2), Trp21 (HA2), His32 (HA1), and Asn53 (HA2) form hydrogen bonding interactions, and Trp12 forms an aromatic π-stacking interaction with His32 (HA1) of HA, these interactions maintain the binding of urumin to HA protein. Wild-type HA and its alanine mutant [alanine substitutions His32 (HA1), Asp19 (HA2), and Trp21 (HA2)] were expressed in 293T cells. ELISA experiments showed that the affinity ability of urumin with HA wild-type was significantly higher than that of HA alanine mutant, suggesting that His32 (HA1), Asp19 (HA2), and Trp21 (HA2) may be the key residues for HA to interact with urumin. This study provides a theoretical and experimental basis for further modification and application of urumin.

7.
Article in Chinese | WPRIM | ID: wpr-884297

ABSTRACT

Objective:To explore the feasibility and application value of three dimensional (3D) printing technology in creating models of abnormal fetal aortic arch and its branches.Methods:Eleven cases of abnormal fetuses confirmed fetal aortic arch and its branches anomalies from March 2019 to July 2020 in Renmin Hospital of Wuhan University were prospectively enrolled. All the fetuses underwent two dimensional(2D) echocardiography and spatio-temporal image correlation (STIC) technology examination. The 3D volume images of fetal heart were post-processed by Mimics software to create images of the great vessels and their branches in standard tessellation language format (STL) file. The STL file was output to the 3D printer and the 3D printing models of fetal great vessels and their branches were obtained. Compared with conventional ultrasound, the characteristics and application value of 3D printed models of abnormal fetal aortic arch and its branches were analyzed.Results:Eleven fetuses were successfully modeled and printed out large blood vessels and their branch models. The 3D printing model had its own advantages in displaying large blood vessels and their branch abnormalities. It could provide high quality imaging anatomical details and visualize great vessels origin, branch and position and can better display vascular ring spatial relations.Conclusions:It is feasible to use 3D printing technology to make the fetal aortic arch and its branch abnormal model. The 3D printing model can directly display its characteristic changes and provide a certain reference basis for accurately determining the type of vascular ring in the prenatal stage.

8.
Acta Pharmaceutica Sinica ; (12): 1606-1611, 2021.
Article in Chinese | WPRIM | ID: wpr-881563

ABSTRACT

Attenuated Salmonella VNP20009 specifically colonizes and proliferates within tumor tissues and inhibits tumor growth. It has been used as drug delivery vehicle or in combination with other therapies (such as chemotherapy), which shows a good application potential in tumor therapy. In this paper, study was conducted to determine the physiological changes of growth curve and formation of bacterial biofilm of VNP20009 under various environmental stresses, such as temperature, pH, and H2O2. The results showed that VNP20009 could grow normally under the conditions of 42 ℃, pH 6.5, and 1 mmol·L-1 H2O2. Furthermore, the weak acid environment was beneficial to the biofilm formation of VNP20009. This study provides a basis for in-depth study of the survival mechanism and application of attenuated Salmonella.

9.
Article in Chinese | WPRIM | ID: wpr-879521

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).@*METHODS@#With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals.@*RESULTS@#Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c.253A>G (p.Cys85Arg) variant in exon 4 of the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.@*CONCLUSION@#The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.


Subject(s)
Brain/abnormalities , China , Cleft Lip/genetics , Cleft Palate/genetics , Female , Humans , Interferon Regulatory Factors/genetics , Mutation, Missense , Pedigree , Whole Exome Sequencing
10.
Chinese Journal of Endemiology ; (12): 817-821, 2021.
Article in Chinese | WPRIM | ID: wpr-909103

ABSTRACT

Objective:To investigate the influencing factors of thyroid volume in school-age children aged 8 - 10 years in Xinjiang Uygur Autonomous Region (Xinjiang for short).Methods:In 2020, counties (cities, districts) were taken as the units in the whole region of Xinjiang. Each county (city, district) was divided into 5 sampling areas according to the orientation of east, west, south, north, and middle, one township/street was selected from each area, and one primary school was selected from each township/street, 40 non-boarding children aged 8 - 10 years were selected from each primary school as the investigation subjects. Height and weight of children were measured, and body mass index (BMI) and body surface area were calculated; 24 h mixed urine samples of children and household edible salt samples were collected to detect the contents of urinary iodine and salt iodine; thyroid volume of children was measured by B-ultrasonography. Pearson correlation analysis was used to analyze the correlation between thyroid volume and age, height, weight, body surface area, BMI, urinary iodine content, and salt iodine content. Univariate and multiple linear regression analyses were used to evaluate the correlation variables affecting thyroid volume.Results:A total of 18 334 children aged 8 - 10 years were investigated. The median urinary iodine was 237.88 μg/L. There were 132 children with goiter, and the rate of goiter was 0.72%. Of these, 9 249 (50.45%) were girls and 9 085 (49.55%) were boys. Girls' thyroid volume was positively correlated with age, height, weight, body surface area, BMI, urinary iodine content, and salt iodine content ( r = 0.125, 0.135, 0.167, 0.167, 0.154, 0.031, 0.019, P < 0.05); boys' thyroid volume was positively correlated with age, height, weight, body surface area, and BMI ( r = 0.132, 0.326, 0.156, 0.149, 0.146, P < 0.05), and there was no correlation with urinary iodine content and salt iodine content ( r = 0.019, 0.017, P > 0.05). Univariate linear regression analysis showed that age, height, weight, BMI, body surface area and urinary iodine content were the influencing factors of thyroid volume ( t = 14.92, 12.54, 20.98, 17.98, 20.25, 4.28, P < 0.01). Further multiple linear regression analysis showed that age, BMI, body surface area and urinary iodine content had significant independent effects on thyroid volume ( t = 9.61, 8.57, 7.76, 4.89, P < 0.01), the coefficient of determination ( R2) of the model was 0.278 2. According to the regression coefficient (β), the body surface area (β = 0.522 6) had the greatest influence on thyroid volume. Conclusions:The iodine nutrition of children aged 8 - 10 years in Xinjiang is sufficient. Thyroid volume is affected by age, BMI, body surface area and urinary iodine content.

11.
Chinese Journal of Endemiology ; (12): 689-693, 2021.
Article in Chinese | WPRIM | ID: wpr-909079

ABSTRACT

Objective:To investigate the effects of different levels of iodine intake on thyroid function in Wistar rats after pregnancy, and to provide experimental basis for scientific supplementation of iodine and thyroid function screening during pregnancy.Methods:One hundred and fifty female SPF Wistar rats weaned for 2 weeks were selected. Female Wistar rats were intervened with iodine nutrition by drinking deionized water containing potassium iodide (KI). According to the random number table, female Wistar rats were divided into 5 groups [severe iodine deficiency (SID) group, mild iodine deficiency (MID) group, control group (NI), mild iodine excess (MIE) group, and severe iodine excess (SIE) group, 30 rats per group]. The iodine doses of the five groups were 0.0, 1.5, 5.5, 70.0 and 350.0 μg/d, respectively. The animal model was established and intervened for 3 months to detect the 24 h urinary iodine content of rats, and compared with the NI group to determine the success of the model or not. After successful modeling, the tested female Wistar rats were mated with male Wistar rats (female : male=2-3 : 1). There were about 15 pregnant rats in each group, and continued to intervene the pregnant rats for 21 d with the same doses as the modeling conditions. The abdominal aortic blood of non-pregnant and pregnant rats was taken. After serum separation, 5 items [free thyroxine (FT 4), free triiodothyronine (FT 3), thyroid stimulating hormone (TSH), anti-thyroglobulin antibodies (TgAb), thyroid peroxidase antibody (TPOAb)] of serum thyroid function were detected in each group. Results:There was significant difference in urinary iodine content between the five groups (the medians urinary iodine were 3.540, 51.410, 286.801, 644.192 and 2 368.701, respectively, H = 94.791, P < 0.01). Rats with different iodine nutrition levels were successfully established. There were no significant differences in TSH level, TPOAb and double antibodies positive rates of non-pregnant rats among groups ( P > 0.05). There were statistically significant differences in the levels of FT 4, FT 3 and the positive rate of TgAb among groups ( P < 0.05). The level of FT 4 in SID group was lower than that in NI group ( P < 0.05). The level of FT 3 in SID group was higher than that in NI group ( P < 0.05). The positive rate of TgAb in SIE group was higher than that in NI group ( P < 0.05). There were no significant differences in TSH, FT 4 and FT 3 levels of pregnant rats among groups ( P > 0.05). There were significant differences in the positive rates of TgAb, TPOAb and double antibodies among the groups ( P < 0.05). The positive rates of TgAb, TPOAb and double antibodies in MIE and SIE groups were higher than those in NI group ( P < 0.05). The positive rate of TPOAb in MIE group was higher than that in NI group ( P < 0.05), and the positive rates of double antibodies in MID and MIE groups were higher than that in NI group ( P < 0.05). Conclusions:Iodine deficiency can lead to the change of thyroid hormone level in non pregnant rats, while iodine excess can increase the positive rate of related antibodies in non pregnant and pregnant rats.

12.
Article in English | WPRIM | ID: wpr-922109

ABSTRACT

OBJECTIVE@#To evaluate the safety of thread embedding acupuncture therapy (TEAT) and discuss the prevention and treatment of some adverse events (AEs).@*METHODS@#Review of databases, including China National Knowledge Infrastructure (CNKI), CBMdisc, Wanfang, VIP databases and English literature published in PubMed, MEDLINE, EMBASE and Web of Science, were searched from their inception to January 2020, randomized controlled trials (RCTs) and case reports in which AEs with TEAT were included. Cochrane Collaboration's tool and RevMan V.5.3.3 software were used to evaluate the quality of the studies.@*RESULTS@#A total of 61 studies (45 RCTs and 16 case reports) with 620 cases of AEs were included in this review. These studies were published in two countries: China and South Korea. Twenty eight kinds of AEs were summarized. The most common AEs were induration, bleeding and ecchymosis, redness and swelling, fever, and pain. They were accounted for 75.35% (425/564) in the review, and most of them were mild. The rarest AEs were epilepsy, irregular menstruation, skin ulcer, thread malabsorption, and fat liquefaction, with 1 case each. But not all of them had clear causal relationship with TEAT. Most of the AEs were local reactions [with incidence of 9.83% (480/4,882)] and systemic reactions accounted for only 1.27% (62/4,882). Although the included studies showed that AEs were very commonly encountered (11.09%), only 5 cases of severe AEs reported from 2013 to 2017 (0.1%) by using catgut thread, which are rarely seen nowdays with the wide use of new absorbable surgical suture. All of the severe AEs were recovered after symptomatic treatment with no sequelae.@*CONCLUSIONS@#The evidence showed that TEAT is a relatively safe and convenient therapy especially since application of new absorbable surgical suture. Improving practitioner skills, regulating operations, and paying attention to the patients' conditions may reduce the incidence of AEs and improve safety of TEAT.


Subject(s)
Acupuncture Therapy/adverse effects , Catgut , China , Female , Humans , Pain , Software
13.
Article in Chinese | WPRIM | ID: wpr-870672

ABSTRACT

Forty eight singleton normal fetuses underwent two-dimensional echocardiography with fetal heart quantitative technique (fetal HQ) in People′s Hospital of Wuhan University on September 2019. Fetal ventricular intima was successfully tracked by fetal HQ software in 45 cases; the length, transverse width, area, and global spherical index(GSI) of four-chamber view were measured with fetal HQ, meanwhile the dynamic tracking curve of ventricular intima was obtained. The left (right) ventricular global strain (GS), fetal area change (FAC), left ventricular ejection fraction (EF) and 24 segment end diastolic diameter (ED), short-axis shortening (FS), spherical index (SI) were calculated. Fetal heart shape and size and cardiac function parameters, as well as z-score of each parameter after adjustment for gestational age, were obtained successfully. The length, transverse width and area were linearly correlated with gestational age, while other parameters and their Z scores were not significantly correlated with gestational age. Z score of measured values of each parameter fell within the normal range of -2<Z <+2. All measurements of repeatability test were within the consistency limit range. It is suggest that fetal HQ can obtain multiple evaluation indexes easily and reliably, and has good reproducibility, which provides a useful tool for quantitative evaluation of fetal heart shape, size and function.

14.
Article in Chinese | WPRIM | ID: wpr-868901

ABSTRACT

Objective:To review the clinical efficacy and safety of the FOLFIRINOX (oxaliplatin, irinotecan, leucovorin, fluorouracil) regimen in treatment of pancreatic cancer.Methods:The clinical data of 31 patients with pancreatic cancer who were treated with the FOLFIRINOX regimen from July 2016 to December 2019 at the Department of General Surgery, China-Japan Friendship Hospital were retrospectively analyzed. For the 20 males and 11 females who were enrolled into this study, their age ranged from 29 to 80 years (mean 56.9 years). The FOLFIRINOX regimen was used as neoadjuvant therapy in 12 patients, postoperative therapy in 10 patients with liver-metastases, and postoperative adjuvant therapy in 9 patients (as second-line chemotherapy in 7 patients and as first-line chemotherapy in 2 patients). The clinical efficacy and adverse reactions of chemotherapy were evaluated.Results:In this study, 8 patients received the modified FOLFIRINOX regimen. Of the remaining 23 patients who received the standard FOLFIRINOX regimen, 10 (43.3%) were converted to the modified regimen because of adverse events. On clinical efficacy evaluation after neoadjuvant therapy: 5 patients achieved partial remission (PR), 3 stable disease (SD) and 4 progression disease (PD). The disease control rate (DCR) was 66.7% (8/12). For 10 patients got remission of abdominal pain, 5 patients underwent surgical resection. For the 10 patients with liver-metastases, 6 achieved PR, 1 SD, 3 PD. For 7 patients got disease control. For 8 patients had remission of abdominal pain, 1 patient underwent surgical resection. For the 7 patients who received second-line chemotherapy, 2 achieved PR and 5 PD. No tumor recurrence or metastases were found in the two patients after the first-line chemotherapy. Adverse events above grade three in all the patients included neutropenia in 12 patients (38.7%), leukopenia in 7 patients (22.6%) and thrombocytopenia in 1 patient (3.2%).Conclusions:The FOLFIRINOX regimen was efficacious with a high DCR rate and controllable adverse events. Balancing its efficacy and safety showed this regimen to be beneficial to patients with pancreatic cancer.

15.
Chinese Journal of Rheumatology ; (12): 328-333, 2020.
Article in Chinese | WPRIM | ID: wpr-868206

ABSTRACT

Objective:To study the clinical characteristics and compliance of early-onset gout patients by case-control analysis.Methods:A total of 111 early-onset patients (onset age ≤35 years old) were included as Group A, and 111 non-early-onset patients (onset age >35 years old) with matched disease durationwere included as Group B. The differences ofclinical characteristics, causes of acute gout attack, dairy diet habits, compliance, and misunderstanding of the disease were compared.Results:Compared with the non-early-onsetgoutpatients, the early-onset patients had a higher proportion of obesity (63 cases vs 28 cases), family history (36 cases vs 20 cases) and tophus (39 cases vs 23 cases) and higher level of VAS scores (8.5±1.3 vs 7.6±1.7; χ2=22.988, P<0.01; χ2=5.749, P=0.016; χ2=5.729, P=0.017; t=4.639, P<0.01), lowerproportionof the first metatarsophalangeal joint involvement as the initial joint involvement (45.9%, 51 cases vs 59.4%, 66 cases; χ2=4.066, P=0.044), higher proportion of the ankle involvement as the initial joint involvement (34.2%, 38 cases vs 21.6%, 24 cases; χ2=4.386, P=0.036), higher proportion of alcohol drinkers and high fructose drinkers, which was more likely to relate to alcohol intake, strenuous exercise and high fructose intakeas trigger of the flare ( χ2=6.513, P=0.011; χ2=7.126, P=0.008; χ2=1.978, P=0.160), while the proportion of regular exercisers and on diet in the family was lower ( χ2=22.887, P<0.01; t=-4.917, P<0.01). The proportion of poor diet and medication compliance in Group A was higher than that in Group B(57.7%, 64 cases vs 38.7%, 43 cases; χ2=5.207, P=0.022; χ2=5.867, P=0.015). As for the reason for poor treatment compliance, early-onset gout patients were more worry about the side-effects of drugs than non-early onset patients ( χ2=4.190, P=0.041). There was no significant difference between the two groups in the main misunderstanding of gout. Conclusion:Although early onset gout patients are young, their condition is more serious, and compliance is poorer, this group of patients should be highly valued in clinical diagnosis and treatment.

16.
Article in Chinese | WPRIM | ID: wpr-867991

ABSTRACT

Objective:To investigate the feasibility of three dimensional(3D) printing fetal heart from spatio-temporal image correlation (STIC) volume-rendered data.Methods:Eight fetuses with normal heart and 3 fetuses with confirmed cardiac anomalies identified by two-dimensional echocardiography from February to May 2019 in Renmin Hospital of Wuhan University were prospectively enrolled in this study. All the fetuses underwent two-dimensional (2D) echocardiography and STIC technology examination. The 3D volume images of fetal heart were post-processed by Mimics software to create images of the fetal heart in standard tessellation language format(STL). The STL file was output to the 3D printer and the 3D printing models of fetal heart and great vessels were obtained. In the process, the numerical values of each index of fetal hearts were measured from 3D digital model, 3D printing models and routine echocardiography images, respectively. The accuracy of 3D modeling was assessed by comparing the measured values of the model with the measured values of the source data.Results:In all the fetuses, STIC volume data of the fetal heart were successfully reprocessed and printed out, the anatomical structure and vascular course could be visually displayed. It showed no significant difference in all the heart size parameters between 3D digital model, 3D printing models and routine echocardiography images (all P>0.05). Moreover, the size parameters were concordant well between the two methods, all of the data points fell within the limits of agreement. Conclusions:The 3D printing of fetal heart using STIC volume images as the data source is feasible.

17.
Chinese Journal of Endemiology ; (12): 678-681, 2020.
Article in Chinese | WPRIM | ID: wpr-866177

ABSTRACT

Objective:To understand the iodine nutritional status of pregnant women in the early, middle and late pregnancy in historical iodine deficiency areas (South Xinjiang) and non historical iodine deficiency areas (North Xinjiang) in Xinjiang, so as to provide scientific basis for the prevention and control of iodine deficiency disorders in pregnant women and the formulation of appropriate prevention and control measures.Methods:From March to June 2019, using cluster yandom sampling, each county (city, district, county for short) in the whole region was divided into five sampling areas according to the east, west, south, north and middle direction. Twenty pregnant women were selected from each area, and the iodine content was determined by taking household salt samples and random urine samples.Results:A total of 9 461 salt samples were collected from pregnant women's families in 96 counties, of which 9 099 were qualified iodized salts, 22 were non iodized salts, the rate of non iodized salt was 0.23%, the coverage rate of iodized salts was 99.77% (9 439/9 461), the consumption rate of qualified iodized salts was 96.17% (9 099/9 461), and the median of salt iodine was 27.42 mg/kg. A total of 9 456 urine samples of pregnant women were tested. The median of urinary iodine was 187.30 μg/L, ranging from 0.30 to 1 300.00 μg/L. The median of urinary iodine of pregnant women in 12 counties (North Xinjiang) was < 150 μg/L. The medians of urinary iodine of pregnant women in the early, middle and late pregnancy in historical iodine deficiency areas were 215.85, 208.10 and 196.60 μg/L, respectively, while that in the non historical iodine deficiency areas were 179.10, 180.70 and 179.15 μg/L, respectively, the differences were statistically significant ( P < 0.01). There was a significant difference in the urinary iodine content of pregnant women in the early, middle and late pregnancy in historical iodine deficiency areas ( H = 8.85, P < 0.05), but there was no significant difference in the non historical iodine deficiency areas ( H = 0.28, P > 0.05). Conclusions:Some pregnant women in North Xinjiang are in iodine deficiency. The contents of urinary iodine in the early, middle and late pregnancy in historical iodine deficiency areas are higher than those in non historical iodine deficiency areas. The distribution of urinary iodine in the early, middle and late pregnancy of pregnant women in the historical iodine deficiency areas is different.

18.
Chinese Journal of Endemiology ; (12): 112-116, 2020.
Article in Chinese | WPRIM | ID: wpr-866074

ABSTRACT

Objective:To estimate the iodine nutrition level of pregnant women and children in Xinjiang.Methods:Using cluster random sampling method, from March to September in 2018, in the whole district, county (city, district) was treated as a unit to conduct sampling; each county (city, district) was divided into five areas (east, west, south, north, middle), 40 children aged 8 - 10 and 20 pregnant women in each area were randomly selected, salt samples and urine samples were collected to measure iodine content, and B-ultrasound method was used to detect thyroid volume in children.Results:Among 94 counties (cities, districts), 18 859 salt samples were collected from children and 9 070 salt samples from pregnant women. The median salt iodine (interquartile range) for children was 26.65 (23.70, 29.80) mg/kg, and the median salt iodine (interquartile range) for pregnant women was 26.60 (23.80, 29.80) mg/kg. Totally 17 736 qualified iodized salt samples and 109 non-iodized salt samples consumed by children were tested, the coverage rate of iodized salt was 99.42% (18 750/18 859), qualified rate of iodized salt was 94.59% (17 736/18 750), the consumption rate of qualified iodized salt was 94.05% (17 736/18 859), and the non-iodized salt rate was 0.58% (109/18 859). Totally 8 533 qualified iodized salt samples and 57 non-iodized salt samples consumed by pregnant women were tested, the coverage rate of iodized salt was 99.37% (9 013/9 070), the qualified rate of iodized salt was 94.67% (8 533/9 013), the consumption rate of qualified iodized salt was 94.08% (8 533/9 070), and the non-iodized salt rate was 0.63% (57/9 070). Twelve counties (cities, districts) had a consumption rate of qualified iodized salt lower than 90% for children, and 14 counties (cities, districts) had a consumption rate of qualified iodized salt lower than 90% for pregnant women. Totally 18 862 8 - 10 years old children's urine samples were detected, median urinary iodine was 227.0 μg/L, no county (city, district) was found with median urinary iodine < 100 μg/L. A total of 9 070 pregnant women's urine samples were detected, median urinary iodine was 182.0 μg/L, and 23 counties (cities, districts) had a median urinary iodine less than 150 μg/L. B ultrasound was used to detect thyroid volume in 18 787 children aged 8 - 10 years, 231 children had goiter, and the goiter rate was 1.23%, ranged from 0 to 12.05%, and 2 counties (cities, districts) had goiter rate > 5%.Conclusions:There are still some areas in Xinjiang with the consumption rate of qualified iodized salt < 90%. Children's iodine nutrition is greater than the appropriate amount (200 - 299 μg/L), pregnant women's iodine nutrition is appropriate (150 - 249 μg/L), and children's goiter rate generally meets national elimination and control standards (< 5%). Monitoring of iodized salt should be strengthened, and iodine nutrition levels in children and pregnant women should be continuously monitored.

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Article in Chinese | WPRIM | ID: wpr-798647

ABSTRACT

Objective@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*Methods@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2c.5798+ 1G and pCAS2c.5798+ 1A plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*Results@#The proband was found to carry a c. 5798+ 1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*Conclusion@#The novel c. 5798+ 1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.

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Article in Chinese | WPRIM | ID: wpr-829216

ABSTRACT

@#Objective    To summarize the perioperative outcome of patients undergoing robot-assisted thoracic surgery (RATS) or four-port single-direction video-assisted thoracic surgery (VATS) right upper lobectomy (RUL), and to discuss the safety and the essentials of the surgery. Methods    The clinical data of 579 patients with non-small cell lung cancer (NSCLC) undergoing minimally invasive RUL in Dr. Luo Qingquan’s team of our center from 2015 to 2018 were retrospectively analyzed. There were 246 males and 333 females aged 33-78 years. The 579 patients were divided into a RATS group (n=283) and a VATS group (n=296) according to surgical methods. Baseline characteristics and perioperative outcomes including dissected lymph nodes, postoperative duration of drainage, postoperative hospital stay, postoperative complications and surgery cost were compared between the two groups. Results    There was no significant difference in baseline data between the two groups (P>0.05), and no postoperative 30 d mortality or intraoperative blood transfusion was observed. Compared with VATS, RATS had shorter operation time (90.22±12.16 min vs. 92.68±12.26 min, P=0.016), postoperative hospital stay (4.67±1.43 d vs. 5.31±1.59 d, P<0.001) and time of drainage (3.55±1.38 d vs. 4.16±1.58 d, P<0.001). No significant difference was observed between the two groups in the lymph nodes dissection, blood loss volume, conversion rate or complications. The cost of RATS was much higher than that of VATS (93 275.46±13 276.69 yuan vs. 67 082.58±12 978.17 yuan, P<0.001). Conclusion    The safety and effectiveness of robot-assisted and video-assisted RUL are satisfactory, and they have similar perioperative outcomes. However, RATS costs relatively shorter operation time and postoperative hospital stay.

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