Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 1.431
Filter
1.
Chinese Journal of Oncology ; (12): 499-507, 2023.
Article in Chinese | WPRIM | ID: wpr-984749

ABSTRACT

Objective: To clarify the mechanisms involvement in Alisertib-resistant colorectal cells and explore a potential target to overcome Alisertib-resistance. Methods: Drug-resistant colon cancer cell line (named as HCT-8-7T cells) was established and transplanted into immunodeficient mice. The metastasis in vivo were observed. Proliferation and migration of HCT-8-7T cells and their parental cells were assessed by colony formation and Transwell assay, respectively. Glycolytic capacity and glutamine metabolism of cells were analyzed by metabolism assays. The protein and mRNA levels of critical factors which are involved in mediating glycolysis and epithelial-mesenchymal transition (EMT) were examined by western blot and reverse transcription-quantitative real-time polymerase chain reaction(RT-qPCR), respectively. Results: In comparison with the mice transplanted with HCT-8 cells, which were survival with limited metastatic tumor cells in organs, aggressive metastases were observed in liver, lung, kidney and ovary of HCT-8-7T transplanted mice (P<0.05). The levels of ATP [(0.10±0.01) mmol/L], glycolysis [(81.77±8.21) mpH/min] and the capacity of glycolysis [(55.50±3.48) mpH/min] in HCT-8-7T cells were higher than those of HCT-8 cells [(0.04±0.01) mmol/L, (27.77±2.55) mpH/min and(14.00±1.19) mpH/min, respectively, P<0.05]. Meanwhile, the levels of p53 protein and mRNA in HCT-8-7T cells were potently decreased as compared to that in HCT-8 cells (P<0.05). However, the level of miRNA-125b (2.21±0.12) in HCT-8-7T cells was significantly elevated as compared to that in HCT-8 cells (1.00±0.00, P<0.001). In HCT-8-7T cells, forced-expression of p53 reduced the colon number (162.00±24.00) and the migration [(18.53±5.67)%] as compared with those in cells transfected with control vector [274.70±40.50 and (100.00±29.06)%, P<0.05, respectively]. Similarly, miR-125b mimic decreased the glycolysis [(25.28±9.51) mpH/min] in HCT-8-7T cells as compared with that [(54.38±12.70)mpH/min, P=0.003] in HCT-8-7T cells transfected with control. Meanwhile, in comparison with control transfected HCT-8-7T cells, miR-125b mimic also significantly led to an increase in the levels of p53 and β-catenin, in parallel with a decrease in the levels of PFK1 and HK1 in HCT-8-7T cells (P<0.05). Conclusions: Silencing of p53 by miR-125b could be one of the mechanisms that contributes to Alisertib resistance. Targeting miR-125b could be a strategy to overcome Alisertib resistance.


Subject(s)
Animals , Female , Mice , Humans , Azepines , Cell Line, Tumor , Cell Movement/genetics , Cell Proliferation , Gene Expression Regulation, Neoplastic , MicroRNAs/genetics , RNA, Messenger , Tumor Suppressor Protein p53/genetics , Drug Resistance, Neoplasm
2.
Chinese Journal of Cardiology ; (12): 481-489, 2023.
Article in Chinese | WPRIM | ID: wpr-984679

ABSTRACT

Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.


Subject(s)
Male , Adult , Infant , Child , Humans , Bland White Garland Syndrome/diagnostic imaging , Pulmonary Artery/diagnostic imaging , Retrospective Studies , Missed Diagnosis , Hypertension, Pulmonary , Echocardiography , Coronary Vessel Anomalies/diagnostic imaging
3.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 552-554, 2023.
Article in Chinese | WPRIM | ID: wpr-986069

ABSTRACT

Objective: To investigate the clinical characteristics of patients with acute phosphine poisoning, and to follow up and evaluate the prognosis of patients. Methods: In May 2022, 12 patients with phosphine poisoning by respiratory inhalation in Beijing Chao-Yang Hospital of Capital Medical University were analyzed. The patients were treated with symptomatic support therapy. Three months later, patients were re-evaluated the symptoms of poisoning, pulmonary function and magnetic resonance imaging (MRI) of the brain to understand the prognosis of the phosphine poisoning. Results: The main symptoms of 12 patients were respiratory and central nervous system symptoms with hypoxia. The symptoms of poisoning improved after treatment. Follow-up found that the patients had different degrees of residual symptoms. Pulmonary function showed increased airway resistance. Airway challenge test was positive in some patients. MRI of the head of some patients showed small ischemic focus in bilateral frontal lobes. Conclusion: Acute phosphine poisoning may cause persistent damage to the respiratory system and central system, and residual symptoms after 3 months.


Subject(s)
Humans , Follow-Up Studies , Phosphines , Lung , Lung Diseases , Aluminum Compounds , Poisoning/diagnosis
4.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 1-9, 2023.
Article in Chinese | WPRIM | ID: wpr-973739

ABSTRACT

ObjectiveTo investigate the effect and mechanism of Nongsuo Dangguiwan in improving ovarian oxidative stress in rats with ovarian dysfunction. MethodThirty-six adult female SD rats were randomly divided into normal group, model group, positive drug group (Femoston, 0.3 mg·kg-1), and high-, medium-, and low-dose groups of concentrated Nongsuo Dangguiwan (2.08, 4.16, 8.32 g·kg-1), with six rats in each group. Rats, except for those in the normal group, were injected with 80 mg·kg-1 vinyl cyclohexene dioxide (VCD) per day for 14 consecutive days to induce ovarian dysfunction. From the 15th day, rats were treated with corresponding drugs by gavage, while those in the model group received 2 mL·kg-1 saline, once daily for 28 consecutive days. The ovarian index, levels of related hormones including estradiol (E2), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and anti-mullerian hormone (AMH) in serum, as well as superoxide dismutase (SOD) activity and glutathione (GSH) content in serum were measured by enzyme-linked immunosorbent assay (ELISA). The malondialdehyde (MDA) content in serum was detected by the thiobarbituric acid (TAB) method. Ovarian morphology was observed by hematoxylin-eosin (HE) staining. The expression of nuclear factor E2-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), SOD2, and SOD1 in ovarian tissues was detected by immunohistochemistry (IHC) and Western blot. ResultCompared with the normal group, the model group showed a significant reduction in growing follicles in the ovary, loose arrangement of granulosa cells in the follicle, decreased body weight, ovarian index, and serum AMH and E2 levels, increased LH and FSH levels (P<0.01), reduced levels of SOD and GSH in serum (P<0.01), and increased MDA level (P<0.01). Compared with the model group, the groups with drug intervention showed increased ovarian index (P<0.05, P<0.01), increased serum E2 level (P<0.05, P<0.01), decreased FSH, AMH, and LH levels (P<0.05, P<0.01), increased number of growing follicles in the ovary, potentiated SOD activity in serum, increased GSH content, decreased MDA content (P<0.05, P<0.01), and up-regulated expression levels of Nrf2, HO-1, SOD2, and SOD1 proteins in ovarian tissues (P<0.05, P<0.01). ConclusionNongsuo Dangguiwan can regulate serum hormone levels, increase the expression of Nrf2, HO-1, SOD2, and SOD1 in ovarian tissues, and improve ovarian antioxidant capacity to resist oxidative stress injury, thereby improving ovarian reserve function.

5.
Journal of Clinical Hepatology ; (12): 1178-1183, 2023.
Article in Chinese | WPRIM | ID: wpr-973214

ABSTRACT

Nonselective β-receptor blockers (NSBBs) are first-line drugs for the prevention and treatment of complications in cirrhotic patients with portal hypertension and are widely used in the primary and secondary prevention of esophagogastric variceal bleeding. In recent years, studies have shown that in patients with clinically significant portal hypertension (CSPH), NSBBs can used to prevent liver decompensation events besides variceal bleeding, such as ascites and hepatic encephalopathy. However, in patients without CSPH, current research evidence does not support the use of NSBBs. Although reliable data currently support the use of NSBBs in end-stage liver cirrhosis, there are still drug safety issues in patients with refractory ascites and spontaneous bacterial peritonitis, and further studies are needed to explore the dose and timing of administration. This article reviews the clinical research advances in the use of NSBBs (especially carvedilol) in patients with liver cirrhosis and summarizes the therapeutic window used reasonably in the whole-course management of liver cirrhosis, so as to provide a basis for clinical decision-making.

6.
Journal of Environmental and Occupational Medicine ; (12): 456-461, 2023.
Article in Chinese | WPRIM | ID: wpr-972385

ABSTRACT

Background The concentrations of disinfection by-products (DBPs) are varied by different water sources, disinfectants, or treatment processes in Wuxi, and the associated health risks are also different. Objective To understand the levels of trihalomethanes (THMs) and haloacetamides (HAcAms) in drinking water in Wuxi, and their variations by water sources, seasons, disinfectants or treatment processes, aiming to provide technical support for ensuring the safety of drinking water. Methods In dry period (December 2019) and wet period (July 2020), the finished water and tap water (from the beginning, middle, and end of the drinking water distribution network) from 12 centralized water treatment plants in Wuxi were collected to detect the concentrations of THMs and HAcAms in water samples. A purge and trap-gas chromatography-mass spectrometry method was applied to detect trichloromethane (TCM), bromodichloromethane (BDCM), dibromochloromethane (DBCM), and tribromomethane (TBM), and a solid-phase extraction-gas chromatography-mass spectrometry method to detect dichloroacetamide (DCAcAm), trichloroacetamide (TCAcAm), bromochloroacetamide (BCAcAm), dibromoacetamide (DBAcAm), bromodichloroacetamide (BDCAcAm), dibromochloroacetamide (DBCAcAm), and tribromoacetamide (TBAcAm). Analyses and comparisons were made on the concentrations of THMs and HAcAms in drinking water by water sources (the Yangtze River/the Taihu Lake/reservoir), wet/dry seasons, disinfection methods (liquid chlorine/sodium hypochlorite), and treatment processes (conventional treatment/conventional+advanced treatment). Results A total of 96 drinking water samples were collected in Wuxi. THMs were positive in all the water samples (100%), with concentration ranging from 1.027 to 40.225 μg·L−1 and the M (P25, P75) concentration being 24.782 (17.784, 30.932) μg·L−1. None of the 4 THMs exceeded the standard limit of the Standards for drinking water quality (GB 5749-2022 ), and the order of the 4 THMs concentrations from high to low was TCM > BDCM > DBCM > TBM. Five of the 7 HAcAms were detected, the total concentration ranged from 0.137 to 3.288 μg·L−1, and the M (P25, P75) was 0.808 (0.482, 1.704) μg·L−1. The DCAcAm concentration was the highest (2.448 μg·L−1), followed by BCAcAm, while TCAcAm and DBCAcAm were not detected. The M (P25, P75) of the total concentration of THMs in the drinking water from the Taihu Lake was 33.353 (26.649, 36.217) μg·L−1, that of the Yangtze River was 27.448 (24.312, 31.393) μg·L−1, and both were higher than the level of the reservoir [16.359 (2.305, 21.553) μg·L−1] (P<0.05), while the M (P25, P75) of the total concentration of HAcAms in the drinking water from the Taihu Lake was 0.616 (0.363, 0.718) μg·L−1, which was lower than those of the Yangtze River [0.967 (0.355, 2.283) μg·L−1] and the reservoir [1.071 (0.686, 1.828) μg·L−1] (P<0.05). There were no statistically significant differences in the total concentrations of THMs and HAcAms between wet season and dry season, or between different disinfection methods (P>0.05). The M (P25, P75) concentrations of THMs and HAcAms in drinking water after advanced treatment process involving ozone, activated carbon, and membrane were 20.565 (3.316, 27.185) μg·L−1 and 0.623 (0.452, 1.286) μg·L−1 respectively, and were lower than the corresponding values after conventional treatment process, 28.740 (23.431, 35.085) μg·L−1 and 0.934 (0.490, 2.116) μg·L−1 respectively (P<0.05). Conclusion The concentrations of THMs and HAcAms in drinking water in Wuxi are generally at a low level. The levels of controlled THMs meet the requirements of national standards, and the levels of uncontrolled HAcAms as new DBPs are up to μg·L−1. The concentrations of the two kinds of DBPs in drinking water vary by water sources. The concentrations of THMs and HAcAms produced by the advanced treatment process are lower than that by the conventional treatment process.

7.
Acta Pharmaceutica Sinica B ; (6): 344-358, 2023.
Article in English | WPRIM | ID: wpr-971699

ABSTRACT

Growth hormone deficiency (GHD) has become a serious healthcare burden, and presents a huge impact on the physical and mental health of patients. Here, we developed an actively separated microneedle patch (PAA/NaHCO3-Silk MN) based on silk protein for sustained release of recombinant human growth hormone (rhGH). Silk protein, as a friendly carrier material for proteins, could be constructed in mild full-water conditions and ensure the activity of rhGH. After manually pressing PAA/NaHCO3-Silk MN patch to skin for 1 min, active separation is achieved by absorbing the interstitial fluid (ISF) to trigger HCO3 ‒ in the active backing layer to produce carbon dioxide gas (CO2). In rats, the MN patch could maintain the sustained release of rhGH for more than 7 days, and produce similar effects as daily subcutaneous (S.C.) injections of rhGH in promoting height and weight with well tolerated. Moreover, the PAA/NaHCO3-Silk MN patch with the potential of painless self-administration, does not require cold chain transportation and storage possess great economic benefits. Overall, the PAA/NaHCO3-Silk MN patch can significantly improve patient compliance and increase the availability of drugs, meet current unmet clinical needs, improve clinical treatment effects of GHD patients.

8.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 710-714, 2023.
Article in Chinese | WPRIM | ID: wpr-995236

ABSTRACT

Objective:To observe the clinical efficacy of combining electroacupuncture with long needle sacral nerve acupuncture in the treatment of diabetic overactive bladder.Methods:A total of 90 patients with diabetic overactive bladder were randomly divided into an observation group and a control group, each of 45. In addition to the basic treatment for diabetes, the observation group received electroacupuncture combined with long needle sacral nerve acupuncture 5 times a week for 4 weeks, while the control group was given 5mg of oral solinax succinate once a day as a course of treatment. One week before the beginning of the experiment and one week before its end, urination diary cards were used to record the average number of times of daytime and nighttime urination daily, as well as any urgent urination and urinary incontinence during the week. Bladder overactivity syndrome score (OABSS), the bladder overactivity quality of life questionnaire (OAB-q), maximum urine flow rate (Qmax) and mean urine flow rate (Qave) were employed to quantify urination status, life quality and the urodynamics of the 2 groups before and after the treatment.Results:After the treatment, significant improvement was observed in the average weekly incidence of daytime and nighttime urination, of urgent urination and of urinary incontinence. The average OABSS, OAB-q, Qmax and Qave scores improved in both groups, but the experimental group showed significantly better improvement than the control group.Conclusion:Electroacupuncture combined with sacral nerve needling can significantly reduce the frequency of urination, relieve the symptoms of urgent urination and incontinence, and improve the rate of urine flow, improving the life quality of patients with diabetic overactive bladder.

9.
Chinese Journal of Perinatal Medicine ; (12): 546-553, 2023.
Article in Chinese | WPRIM | ID: wpr-995138

ABSTRACT

Objective:To investigate the effects of breast milk to total milk intake ratio during hospitalization on the duration of antibiotic therapy in preterm infants less than 34 weeks of gestation.Methods:Clinical data of preterm infants ( n=1 792) less than 34 gestational weeks were retrospectively collected in 16 hospitals of Jiangsu Province Neonatal-Perinatal Cooperation Network from January 1, 2019, to December 31, 2021. The days of therapy (DOT) were used to evaluate the duration of antibiotic administration. The median DOT was 15.0 d (7.0-27.0 d). The patients were divided into four groups based on the quartiles of DOT: Q 1 (DOT≤7.0 d), Q 2 (7.0 d<DOT≤15.0 d), Q 3 (15.0 d<DOT≤27.0 d) and Q 4 (DOT>27.0 d) groups. According to the breast milk intake ratio (breast milk intake to total milk intake during hospitalization×100%), they were also divided into four groups: very-low-ratio breastfeeding group (breast milk intake ratio≤25%), low-ratio breastfeeding group (25%<breast milk intake ratio≤50%), medium-ratio breastfeeding group (50%<breast milk intake ratio≤75%) and high-ratio breastfeeding group (breast milk intake ratio>75%). Univariate analysis ( Chi-square test and Kruskal-Wallis rank-sum test) was used to analyze the factors influencing DOT. Spearman correlation analysis and trend Chi-square test were used to explore the relationship between breast milk intake ratio and DOT. After using multiple imputations to address missing data, two models were constructed after adjusting for different factors, and multinomial logistic regression model was applied to evaluate the effects of the breast milk intake ratio on DOT. Finally, sensitivity analysis was conducted to assess the stability of the models. Results:(1) Of the 1 792 preterm infants, there were 507 (28.3%) in the Q 1 group, 422 (23.5%) in the Q 2 group, 438 (24.4%) in the Q 3 group and 425 (23.7%) in the Q 4 group. (2) The median values of DOT in the very-low-ratio, low-ratio, medium-ratio and high-ratio breastfeeding groups were 20.0 d (11.0-31.0 d), 20.0 d (11.0-32.0 d), 13.0 d (6.0-25.8 d) and 10.0 d (4.0-21.0 d), respectively. Compared with the very-low-ratio and low-ratio breastfeeding groups, the medium-ratio and high-ratio breastfeeding groups had shorter DOT (all P<0.05). (3) After adjusting for factors with P<0.1 (prenatal glucocorticoid exposure, antimicrobial use within 24 h before delivery, gestational age at delivery, birth weight, Apgar score≤7 at 1 min, neonatal respiratory distress syndrome, infectious pneumonia and early-onset neonatal sepsis) between the DOT quartile groups, it showed that medium-ratio and high-ratio breastfeeding were protective factors in contrast to very-low-ratio breastfeeding in the Q 2, Q 3 and Q 4 groups as compared with the Q 1 group [Q 2 group: OR=0.50 (95% CI: 0.30-0.85) and OR=0.36 (95% CI: 0.26-0.51); Q 3 group: OR=0.31 (95% CI: 0.18-0.55) and OR=0.20 (95% CI: 0.14-0.29); Q 4 group: OR=0.22 (95% CI: 0.12-0.42) and OR=0.17 (95% CI: 0.12-0.26)]. Conclusion:Breast milk intake accounting for over 50% of total milk intake has a positive impact on reducing DOT in premature infants requiring antibiotics, which suggests that breastfeeding should be actively encouraged.

10.
Chinese Journal of Nephrology ; (12): 414-421, 2023.
Article in Chinese | WPRIM | ID: wpr-994994

ABSTRACT

Objective:To investigate the urinary sediment findings and the clinicopathologic features of IgA nephropathy (IgAN) patients with acute kidney injury (AKI).Methods:It was a retrospective study. The patients with renal biopsy-proven primary IgAN in Peking University First Hospital from January 31, 2013 to July 31, 2015 were selected. According to whether AKI occurred at renal biopsy or not, the patients were divided into AKI group and non-AKI group. Morning urine samples were obtained on the day of renal biopsy. Urine sediments, including various cells and casts, were examined. The clinical data, urinary sediments, and renal pathological changes were compared between the two groups. Logistic regression analysis was performed to identify the association between clinical pathological changes, urinary sediment indicators and AKI, or clinical pathological changes and urinary sediment indicators.Results:There were 502 IgAN patients enrolled in this study, with age of (36.1±12.1) years old and 261 males (52.0%). The incidence of AKI was 11.4% (57/502) among the enrolled patients at the time of renal biopsy. Common causes of AKI included gross hematuria-induced AKI (10 cases), acute tubulointerstitial nephritis (10 cases), crescentic IgAN (9 cases), malignant hypertensive renal damage (6 cases), and multiple etioloqy or unknown etiology (22 cases). Compared with non-AKI group, AKI group had higher proportions of males and malignant hypertension, higher levels of proteinuria and urinary erythrocyte counts, and higher frequencies of gross hematuria, leukocyturia, renal tubular epithelial cells, and granular casts (all P<0.05). AKI group also had higher proportions of severe tubular atrophy/interstitial fibrosis (T2) and cellular/cellular fibrous crescent formation (C2) than non-AKI group (both P<0.05). Logistic regression analysis results showed that, there were statistically significant differences in the correlation between AKI and gender, 24 h urinary protein, urinary erythrocyte counts, granular casts and renal tubular atrophy/interstitial fibrosis (T) scores (all P<0.05). Hematuria, leukocyturia, red blood cell casts, white blood cell casts, granular casts, and fatty casts were correlated with endothelial hypercellularity (E) and cellular/cellular fibrous crescent formation (C) scores, respectively (all P<0.05). Hematuria was correlated with mesangial hypercellularity (M) scores ( OR=2.613, 95% CI 1.520-4.493, P=0.001). Hematuria ( OR=1.723, 95% CI 1.017-2.919, P=0.043) and fatty casts ( OR=2.646, 95% CI 1.122-6.238, P=0.026) were correlated with segmental sclerosis or adhesion (S) scores. Leukocyturia ( OR=1.645, 95% CI 1.154-2.347, P=0.006) and fatty casts ( OR=2.344, 95% CI 1.202-4.572, P=0.012) were correlated with T scores. Epithelial cell cast was correlated with C scores ( OR=1.857, 95% CI 1.174-2.939, P=0.008). Conclusions:AKI is a common complication among IgAN patients with diverse etiology and more severe clinicopathological features. Urinary sediment findings can reflect renal pathological changes to some extent, and therefore assist in the clinical diagnosis and treatment of IgAN patients with AKI.

11.
Chinese Journal of Neurology ; (12): 1034-1043, 2023.
Article in Chinese | WPRIM | ID: wpr-994929

ABSTRACT

Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

12.
Chinese Journal of Neurology ; (12): 909-914, 2023.
Article in Chinese | WPRIM | ID: wpr-994913

ABSTRACT

Objective:To analyze the clinical characteristics of a child with developmental epileptic encephalopathy caused by NR4A2 gene mutation, and to summarize the clinical phenotypes and genotypes to improve the clinician′s understanding of this disease. Methods:The clinical data of a child with developmental epileptic encephalopathy admitted to Linyi People′s Hospital in August 2022 were collected, video electroencephalogram, craniocerebral magnetic resonance imaging and family whole exon sequencing were improved, and the suspected mutation sites were verified by Sanger sequencing. Relevant literature was consulted to summarize the clinical phenotypes and genetic characteristics of nervous system diseases caused by NR4A2 gene. Results:It was found that there was a heterozygous missense mutation at the locus c.866G>A (p.A289H) of NR4A2 gene in the child, which was a de novo mutation, and both parents were wild type. According to the American Society of Medical Genetics and Genomics variation classification, it was assessed as a suspected pathogenic variation. Through literature review, there were 16 related cases reported internationally, with clinical phenotypes including mental retardation/mental retardation, language disorders, seizures, muscle tone changes and different psychological and behavioral problems. Conclusions:The NR4A2 gene is not only associated with dopa responsive disorders, but also with neurological development, intellectual impairment, language development delay, and epilepsy. The mutation of NR42A gene c.866G>A (p.A289H) is the genetic cause of the patient, and the detection of this locus expands the NR4A2 gene spectrum. NR4A2 gene is one of the pathogenic genes of developmental epileptic encephalopathy.

13.
Chinese Journal of Neurology ; (12): 780-786, 2023.
Article in Chinese | WPRIM | ID: wpr-994894

ABSTRACT

Objective:To analyze the clinical phenotype and gene sequencing results of a child with hyperekplexia, and to clarify her genetic etiology.Methods:The clinical information of the child was collected, and the whole exome sequencing of the child and her parents was performed. The suspected pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.Results:There was a 12 years old girl, who was hospitalized in the Department of Pediatric Neurology of Linyi People′s Hospital because of "paroxysmal limb stiffness for more than 11 years and aggravated for half a month" on July 4, 2022. The girl showed exaggerated startle reflexes and generalized siffness in response to external sudden, unexpected stimuli, occasionally accompanied by apnea and cyanosis, frequent attacks occurred several times a day, lasting for 1-30 minutes, and early head and abdomen flexion can be relieved. She showed normal growth and development, no abnormality in brain magnetic resonance imaging and video electroencephalogram during seizure. The whole exome sequencing showed that there was a missense heterozygous mutation c.643T>C(p.W215R) in the SLC6A5 gene of the child. Neither of the parents carried this mutation, which was a novel and de novo variant. According to the guidelines of American College of Medical Genetics and Genomics, this variant was a likely pathogenic variant [PS2: de novo (both maternity and paternity confirmed) in the patient with the disease and no family history; PM2: undetected variants in the normal population; PP3: multiple softwares predicted that this mutation would have harmful effects on genes or gene products], and highly conserved. Swiss modeling found that the hydrogen bond of the modified amino acid also changed. Conclusions:Hyperekplexia is relatively rare and prone to misdiagnosis. The main clinical features are excessive startle reflexes (limb shaking, or jumping) to unexpected external stimuli, resulting in overall stiffness, normal growth and development, and normal video electroencephalogram during the seizure. The likely pathogenic heterozygous missense variant c.643T>C (p.W215R) of SLC6A5 gene is the genetic cause of this case.

14.
Chinese Journal of Neurology ; (12): 374-384, 2023.
Article in Chinese | WPRIM | ID: wpr-994843

ABSTRACT

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.

15.
Chinese Journal of Urology ; (12): 309-310, 2023.
Article in Chinese | WPRIM | ID: wpr-994030

ABSTRACT

Schistosomiasis cystitis is a urogenital system disease caused by Schistosoma aegypt. Common clinical manifestations are frequent urination, urgency, dysuria, and terminal hematuria, but new infections can be asymptomatic. Detection of parasite eggs by urine microscopy is considered to be the gold standard for diagnosis, but the result may be a false negative in the inactive period. The main epidemic of this disease is located in Africa and the Middle East area. However, in china, there are few reports of confirmed cases. This article reports a case of imported schistosomiasis cystitis. The patient is a Sudanese, male, who has been studying in China for more than 2 years, mainly with persistent painless hematuria for more than 6 months. Cystoscopy was proposed to diagnose a bladder mass, and schistosomiasis cystitis was confirmed by pathological diagnosis after surgery.

16.
Chinese Journal of Geriatrics ; (12): 701-706, 2023.
Article in Chinese | WPRIM | ID: wpr-993877

ABSTRACT

Objective:To examine the clinicopathological and molecular pathological characteristics of patients with colorectal cancer(CRC)who have mutations in the POLE and POLD1 genes.Methods:In this study, we retrospectively collected data from 276 middle-aged and elderly patients aged 45 years and over who were diagnosed with colorectal cancer at Beijing Hospital between October 2020 and September 2022.We utilized next generation sequencing and bioinformatics analysis to screen for harmful germline and somatic mutations in the POLE and POLD1 genes.The study involved 276 patients, who were divided into three groups based on their genetic mutations.The deleterious mutation group had 6 cases, the mutation of unknown significance group had 18 cases, and the wild type group had 252 cases.We also collected clinical and pathological features of the patients and analyzed their correlation with other molecular pathological results such as tumor mutation burden(TMB), microsatellite instability(MSI), and gene co-mutation.Results:No germline mutations were detected in the POLE and POLD1 genes across all patients.Out of the 276 patients, 18(6.5%)were found to carry POLE mutations.Among these, 6(2.2%)were classified as deleterious mutations, 12(4.3%)were positive for POLE mutations of unknown significance, and the remaining patients had wild type POLE genes.Out of the 276 patients, POLD1 gene mutations of unknown significance were found in 10 patients(3.6%). Among the 276 patients, 5 cases(1.8%)carried two types of gene mutations.Patients in the deleterious mutation group showed earlier tumor stage( P<0.05)and a higher prevalence of low-grade tumor budding( P<0.05), with 6 patients being affected by this.Compared to the wild type group, colon cancer patients showed a higher frequency of deleterious mutations and variants of unknown significance in the poorly differentiated group( P<0.05). The median TMB in the deleterious mutation group was 257.76 muts/Mb, 74.4 muts/Mb in the mutation of unknown significance group, and 5.81 muts/Mb in the wild type group.The study found significant differences in TMB-H status among the three groups, with all P-values less than 0.01.MSI-H status was detected in 1 case(16.7%, 1/6), 14 cases(77.8%, 14/18), and 18 cases(7.1%, 18/276)in the deleterious mutation group, variant of undetermined significance group, and wild type group, respectively.Notably, patients with variants of undetermined significance had a higher MSI-H status than patients with wild type and POLE deleterious mutations, with all P-values less than 0.01.The frequencies of co-mutations in KRAS, NRAS, BRAF, and PIK3CA were higher in the deleterious mutation group compared to the mutation of undetermined significance group and wild type group(all P<0.05). Conclusions:Colorectal cancer(CRC)patients with harmful mutations and variants of undetermined significance exhibit unique clinicopathological features.Patients with variants of undetermined significance are more likely to develop colon cancer, show poor differentiation, and have higher frequencies of TMB-H(tumor mutational burden)and MSI-H(microsatellite instability-high).

17.
Chinese Journal of Obstetrics and Gynecology ; (12): 595-602, 2023.
Article in Chinese | WPRIM | ID: wpr-992892

ABSTRACT

Objective:To study the long-term clinical effect of transvaginal mesh (TVM) and pelvic floor reconstruction with native tissue repair (NTR) in the treatment of advanced pelvic organ prolapse (POP).Methods:Totally 207 patients with advanced POP who were treated in Hunan Provincial Maternal and Child Health Care Hospital from Jan. 2016 to Sep. 2019 were enrolled. The patient′s pelvic organ prolapse quantification were all at degree Ⅲ or above, and they all complained for different degree of symptoms. They were divided into two groups according to the different surgical methods, TVM group and NTR group. In TVM group, the mesh was implanted through the vagina for pelvic floor reconstruction, while in NTR group, the traditional transvaginal hysterectomy combined with uterosacral ligament suspension and anterior and posterior wall repair, as well as perineal body repair were performed. The median follow-up time was 60 months, during the follow up time, 164 cases (79.2%, 164/207) had completed follow-up, including 76 cases in TVM group and 88 cases in NTR group. The perioperative data and complication rates of the two groups were compared, and the subjective and objective outcomes of the two groups at 1, 3 and 5 years were observed, respectively. The objective efficacy was evaluated by three composite criteria, namely: (1) the distance from the farthest end of the prolapse of the anterior and posterior wall of the vagina to the hymen is ≤0 cm, and the descending distance of the top is ≤1/2 of the total length of the vagina; (2) determine the disappearance of relevant POP symptoms according to “Do you often see or feel vaginal mass prolapse?”; (3) no further operation or pessary treatment was performed due to prolapse. If the above three criteria were met at the same time, the operation is successful; otherwise, it was recurrence. The subjective efficacy was evaluated by the pelvic floor distress inventory-short form 20 (PFDI-20) and pelvic floor impact questionnaire-short form 7 (PFIQ-7).Results:The median follow-up time of the two groups was 60 months (range: 41-82 months). Five years after the operation, the subjective and objective cure rates of TVM group were 89.5% (68/76) and 94.7% (72/76), respectively. The subjective and objective cure rates in NTR group were 80.7% (71/88) and 85.2% (75/88), respectively. There were significant differences in the subjective and objective cure rates between the two groups ( χ2=9.869, P=0.002; χ2=3.969, P=0.046). The recurrence rate of TVM group was 5.3% (4/76), and that of NTR group was 14.8% (13/88). There was a significant difference between the two groups ( P=0.046). The postoperative PFDI-20 and PFIQ-7 scores of the two groups were significantly lower than those before surgery, and there were significant differences of the two groups before and after surgery (all P<0.05). Postoperative mesh exposure in TVM group was 1.3% (1/76). Conclusions:The long-term outcomes between the two groups show that the subjective and objective outcomes of pelvic floor reconstruction in TVM group are significantly higher than those in NTR group, and the recurrence rate is significantly lower than that in NTR group. TVM has certain advantages in the treatment of advanced POP.

18.
Journal of Chinese Physician ; (12): 1219-1224, 2023.
Article in Chinese | WPRIM | ID: wpr-992447

ABSTRACT

Objective:To study the correlation between the quartering of nerve root subsidence sign (NRS) and the cross-sectional area (CSA) of the narrow segment thecal sac in patients with lumbar spinal stenosis (LSS).Methods:The data of 203 LSS patients in the Fourth People′s Hospital of Hengshui from January 2020 to December 2021 were retrospectively analyzed. All patients underwent MRI cross sectional scanning. The patients were divided into positive type a group ( n=62), positive type b group ( n=32), positive type c group ( n=51), and negative group ( n=58) by NRS quartering method. The minimum CSA, median sagittal diameter (PAD), and lateral recess sagittal diameter of each group were compared. The correlation between NRS quartering classification and the minimum CSA and related indicators of lumbar spinal stenosis was analyzed. Results:The minimum CSA, PAD, and sagittal diameter of the lateral recess in the positive a group, positive b group, and positive c group were all smaller than those in the negative group, while the Visual Analogue Scale (VAS) score and Oswestry Disability Index (ODI) were higher than those in the negative group; The minimum CSA, PAD, and sagittal diameter of the lateral recess in the positive b type and positive c type groups were smaller than those in the positive a type group, while the VAS score and ODI index were higher than those in the positive a type group; The minimum CSA, PAD, and sagittal diameter of the lateral recess in the positive c type group were smaller than those in the positive b type group; The VAS score and ODI index were higher than those of the positive b type group; The differences were statistically significant (all P<0.05). 203 patients were divided into 54 normal cases, 58 mild stenosis cases, 49 moderate stenosis cases, and 42 severe stenosis cases based on the minimum CSA. The coincidence rate between negative NRS and minimal CSA diagnosis as normal was 94.44%(51/54), the coincidence rate between positive type a and minimal CSA diagnosis as mild stenosis was 84.48%(49/58), the coincidence rate between positive type b and minimal CSA diagnosis as moderate stenosis was 53.06%(26/49), and the coincidence rate between positive type c and minimal CSA diagnosis as severe stenosis was 90.48%(38/42). Using the kappa consistency test, the kappa value for quantitative diagnosis of minimum CSA stenosis in NRS and LSS patients was 0.743, indicating good consistency. The kappa values for quantitative diagnosis of NRS, sagittal diameter of lateral recess, and PAD stenosis were 0.271 and 0.335, with poor consistency. NRS typing was negatively correlated with CSA and PAD ( r=-0.723, -0.581, all P<0.001), and positively correlated with VAS score and ODI index ( r=0.473, 0.640, all P<0.001). Conclusions:The NRS quartering method has a good consistency in diagnosing the severity of LSS patients and the minimum CSA of stenosis segments, suggesting that the NRS quartering method can better reflect the degree of Spinal stenosis, which can not only be used as an auxiliary indicator for qualitative diagnosis of LSS, but also has a high value in quantitative diagnosis.

19.
Chinese Journal of Endemiology ; (12): 668-674, 2023.
Article in Chinese | WPRIM | ID: wpr-991691

ABSTRACT

Objective:To learn about the awareness, education status and willingness of iodine deficiency disorders (IDD) among elementary school students in Guizhou Province, and to provide a scientific basis for exploring intervention strategies for health education of iodine deficiency in the future.Methods:From June 2021 to May 2022, each IDD monitoring county was selected from the east, south, west, north and middle directions of Guizhou Province, and one elementary school was selected from each county. All students in two classes of Grade 5 and Grade 6 were selected in whole groups to conduct on-site questionnaire surveys in the form of anonymous examinations. The survey mainly included general demographic information and IDD awareness, education status and willingness, and binary logistic regression was used to analyze the relevant influencing factors.Results:A total of 1 259 elementary school students in Guizhou Province were investigated, the rates of awareness of IDD, acceptance of IDD publicity and education, and willingness to accept IDD publicity and education among elementary school students were 37.7% (1 900/5 036), 25.1% (316/1 259) and 69.6% (876/1 259), respectively. By binary logistic regression analysis, gender, residence, grade and father's education level were the influencing factors of pupils' awareness of iodine deficiency ( P < 0.05); residence, age and father's education level were the influential factors of elementary school students receiving iodine deficiency education ( P < 0.05); gender, residence, ethnicity and whether the child was the only child or not were the influential factors of elementary school students' willingness to accept IDD education ( P < 0.05). Conclusions:The elementary school students in Guizhou Province have insufficient knowledge about IDD. The publicity and education for iodine deficiency prevention is limited, and the students' willingness to learn is not high. The publicity, education and intervention for iodine deficiency prevention among elementary school students should be comprehensively strengthened.

20.
Chinese Journal of Experimental Ophthalmology ; (12): 576-581, 2023.
Article in Chinese | WPRIM | ID: wpr-990884

ABSTRACT

Objective:To systematically compare the accuracy of intraocular lens (IOL) power calculation formulas in cataract patients with shallow anterior chamber.Methods:A comprehensive literature search was conducted in MEDLINE, EMBASE, Cochrane Library, and the Chinese databases including CNKI, Wanfang, and VIP databases.The peer-reviewed literature on the accuracy of IOL power calculation formulas in cataract patients with shallow anterior chamber was searched from the establishment of the database until August 2020.Literature screening, data extraction and quality assessment were performed according to inclusion and exclusion criteria.The mean difference ( MD) of mean absolute error (MAE) among different formulas was analyzed.Meta-analysis was performed using Revman 5.3 software. Results:Seven studies involving 499 eyes were included.The accuracy of six formulas, Barrett Universal Ⅱ, Haigis, SRK/T, Hoffer Q, Holladay 1 and Holladay 2, was evaluated.The MAE of Barrett Universal Ⅱ was significantly lower than that of Hoffer Q ( MD=0.11 D; 95% CI: 0.05-0.17 D; P<0.001), Haigis ( MD=0.08 D; 95% CI: 0.03-0.13 D; P=0.002), and Holladay 2 ( MD=-0.06 D; 95% CI: -0.11--0.01 D; P=0.020). No significant difference was found in the remaining pairwise comparisons (all at P>0.05). Conclusions:The Barrett Universal Ⅱ formula is more accurate than Hoffer Q, Haigis, and Holladay 2 formulas in predicting IOL power in cataract patients with shallow anterior chamber.

SELECTION OF CITATIONS
SEARCH DETAIL