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1.
JOURNAL OF RARE DISEASES ; (4): 79-86, 2024.
文章 在 英语 | WPRIM | ID: wpr-1006921

摘要

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

2.
Organ Transplantation ; (6): 112-117, 2024.
文章 在 中文 | WPRIM | ID: wpr-1005240

摘要

Objective To summarize the effect of the timing of lung transplantation and related treatment measures on clinical prognosis of patients with paraquat poisoning. Methods Clinical data of a patient with paraquat poisoning undergoing bilateral lung transplantation were retrospectively analyzed. Clinical manifestations, auxiliary examination, diagnosis and treatment of this patient were summarized and analyzed. Results A 17-year-old adolescent was admitted to hospital due to nausea, vomiting, cough and systemic fatigue after oral intake of 20-30 mL of 25% paraquat. After symptomatic support treatment, the oxygen saturation was not improved, and pulmonary fibrosis continued to progress. Therefore, sequential bilateral lung transplantation was performed under extracorporeal membrane oxygenation (ECMO). After postoperative rehabilitation and active prevention and treatment for postoperative complications, the patient was discharged at postoperative 50 d. Conclusions The timing of lung transplantation after paraquat poisoning may be selected when the liver and kidney function start to recover. Active and targeted prevention of potential pathogen infection in perioperative period and early rehabilitation training contribute to improving clinical prognosis of lung transplant recipients.

3.
International Eye Science ; (12): 106-110, 2024.
文章 在 中文 | WPRIM | ID: wpr-1003516

摘要

AIM: To compare the short-term postoperative visual acuity, visual disturbance phenomena, and spectacle independence rate in patients who underwent monocular implantation with trifocal, multifocal, or extended range of vision intraocular lens(IOL).METHODS: A retrospective analysis was conducted on 67 cataract patients(67 eyes)who underwent phacoemulsification cataract extraction combined with IOL implantation from March 2019 to December 2022. A total of 35 cases(35 eyes)received Symfony extended range of vision IOL implantation, 21 cases(21 eyes)received AcrySof IQ ReSTOR +3D multifocal IOL, and 11 cases(11 eyes)received AcrySof IQ PanOptix trifocal IOL. The preoperative uncorrected distance visual acuity(UDVA), uncorrected intermediate visual acuity(UIVA), and uncorrected near visual acuity(UNVA)and 3 mo postoperatively were documented. Moreover, defocus curves, visual disturbance phenomena, and spectacle independence rates were recorded at 3 mo postoperatively.RESULTS: At 3 mo postoperatively, no statistically significant differences were observed in UDVA among the three groups(P>0.05). A comparison of UIVA showed superior results in the Symfony and PanOptix groups compared to the ReSTOR group(all P<0.01). The UNVA of both the ReSTOR and PanOptix groups outperformed the Symfony group(all P<0.01). The defocus curves indicated that in the intermediate vision range(-1.00 to -1.50 D), the Symfony group exhibited better performance than the ReSTOR group(P<0.05); while in the near vision range(-2.50 to -3.50 D), the ReSTOR group was superior to the Symfony group(P<0.05). The PanOptix group demonstrated superior visual acuity in the near vision range(-2.00 to -3.50 D)compared to the Symfony group(P<0.05)and was also superior in the intermediate vision range(-1.00 to -2.00 D)compared to the ReSTOR group(P<0.05). No significant differences were observed in the incidence of glare or halo and binocular interference phenomena among the three groups(P>0.05). The PanOptix and ReSTOR groups exhibited a higher spectacle independence rate compared to the Symfony group(P<0.0167).CONCLUSION: Compared to Symfony extended range of vision IOL and ReSTOR multifocal IOL, PanOptix trifocal IOL offers a balanced approach to distance, intermediate, and near visual acuity, without a high incidence of glare and halo, and with a higher spectacle independence rate. Caution is still advised when considering monocular implantation with presbyopia-correcting IOLs.

4.
Chinese Pharmacological Bulletin ; (12): 248-255, 2024.
文章 在 中文 | WPRIM | ID: wpr-1013619

摘要

Aim To explore the impacts of high mobility group box 1 (HMGB1) on the phenotypes, endocy-tosis and extracellular signal-regulated kinase (ERK)/ Jun N-terminal protein kinase (JNK)/P38 mitogen-ac-tivated protein kinase (MAPK) signaling pathway in indoxyl sulfate (IS) -induced dendritic cells (DCs). Methods After treatment with 30, 300 and 600 (xmol · L

5.
China Pharmacy ; (12): 872-876, 2024.
文章 在 中文 | WPRIM | ID: wpr-1013552

摘要

OBJECTIVE To explore the effects of narrative pharmacy management on medication compliance, negative emotions, and quality of life in patients with cardiovascular disease complicated with negative emotions. METHODS A total of 49 patients with drug use problems and negative emotions attending the cardiovascular pharmacy clinic of Wuhan First Hospital from February to August 2023 were selected as the study objects, narrative pharmacy model was applied for patient management during their visits; pharmaceutical care and emotional management were performed after 2 weeks of treatment and a follow-up visit was conducted to evaluate and record the management effect one month later. RESULTS Adopting a narrative pharmacy management model, 49 patients were involved in 114 drug related consultation questions. Compared with the visit, after one month of management, the number of medication types taken by patients significantly decreased [4.00 (2.00, 6.00) vs. 3.00 (1.50, 5.00), P<0.05], the incidence of adverse reactions significantly decreased (32.65% vs. 2.04%, P<0.001), the rate of blood pressure and lipid compliance significantly increased (30.61% vs. 95.92%, P<0.001), and the score of the patient’s medication compliance significantly improved ([ 3.94±2.44) vs. (6.78±2.07), P<0.01]. The depression score significantly decreased [3.00 (2.00, 4.50) vs. 2.00 (0.00, 3.00), P<0.001], the anxiety score significantly reduced [3.00 (2.00, 4.50) vs. 1.00 (0.00, 2.00), P<0.001], quality of life score was significantly improved [22.00 (19.00, 22.00) vs. 23.00 (23.00, 24.50), P<0.01]. In the satisfaction survey, there was a slight increase in the overall satisfaction proportion (91.84% vs. 97.96%, P>0.05). CONCLUSIONS The application of narrative pharmacy in cardiovascular pharmacy clinic can improve patient compliance, reduce adverse drug reactions, enhance the effectiveness of drug treatment, avoid drug interactions, effectively improve the anxiety and depression, and ultimately improve the quality of life.

6.
Chinese Journal of School Health ; (12): 341-345, 2024.
文章 在 中文 | WPRIM | ID: wpr-1013501

摘要

Objective@#To explore the effects of community building environment and sports with fitness APP usage and their interactions on teachers exercise habits in the Yangtze River Delta Region, so as to provide a scientific basis for the development of a sports and health promotion intervention program for teachers.@*Methods@#A total of 2 530 in service teachers from four provinces and cities in the Yangtze River Delta region, namely, Shanghai, Zhejiang, Jiangsu and Anhui Province, were sampled in May-June 2023 by using convenient cluster random sampling method. Self designed questionnaire was used to collect the basic information of the surveyed teachers, Physical Activity Building Environment Evaluation Questionnaire and the Sports with Fitness APP Usage Questionnaire were used to measure the teachers subjective perception of the community building environment and the usage of sports with fitness APP, respectively. Physical Exercise Habituation Scale was used to assess the level of exercise habits. Logistic regression models were applied to analyze the effects of community building environment and sports with fitness APP usage on physical exercise, and the interaction effects were analyzed by using additive and multiplicative models.@*Results@#Among all the teachers surveyed, 658 of them reported good physical exercise habits (26.0%), and differences in the rate of physical activity habit formation by gender, age, years of teaching, as well as subject of teaching were statistically significant ( χ 2=42.94, 39.73, 35.47, 218.23 , P <0.05). Teachers with physical exercise habits had significantly higher community building environment scores and sports and fitness APP use than teachers without exercise habits ( t =12.17,16.54, P <0.05). Adjusting for the confounders of age, gender, years of teaching experience, and subjects taught, multifactorial unconditional Logistic regression analysis showed that the probability of teachers having good physical exercise habits increased by 22% for every 1-point increase in the community building environment score on average ( OR =1.22, 95% CI =1.11-1.40), and the probability of teachers having good physical exercise habits increased by 16% for every 1-point increase in the sports with fitness APP score on average ( OR = 1.16 , 95% CI =1.03-1.31) ( P <0.05). Interaction analyses showed that there was an additive interaction between the effects of community building environment and sports and fitness APP use on teachers physical exercise habits after adjustment, and the 95% CI for RERI , API and SI were 1.17 -1.65, 0.12-0.46 and 1.78-3.33 ( P <0.05), respectively, and there was no multiplicative interaction ( P >0.05).@*Conclusions@#The community building environment and the usage of sports & fitness APP show impacts in the formation of teachers physical exercise habits in the Yangtze River Delta region, and there is an interaction effect. Enhancing the construction of smart sports centers around the community can provide a high quality external environment for the physical exercise habits formation.

7.
Journal of Environmental and Occupational Medicine ; (12): 235-242, 2024.
文章 在 中文 | WPRIM | ID: wpr-1013429

摘要

Background Anxiety and depression are common perinatal mental health issues that often occur together and can have serious negative effects on both maternal and infant health. Objective To examine the relationships between lifestyle factors and comorbid anxiety and depression (CAD) among pregnant women in Shanghai. Methods The study estimated the prevalence of CAD during the first, second, and third trimesters of pregnancy using the Self-rating Anxiety Scale (SAS) and Center for Epidemiological Studies-Depression (CES-D) based on data from the China National Birth Cohort (CNBC) embryonic-derived diseases with assisted reproductive technology (ART) sub-cohort. Information on demographics, sleep status, nutritional intake, and exercise during each trimester was collected through self-made questionnaires, the Pittsburgh Sleep Quality Index (PSQI), and the Food Frequency Questionnaire (FFQ). Lifestyle factors (such as sleep status, nutritional intake, and exercise during each trimester) were analyzed using logistic regression and generalized linear mixed models (GLMM) to determine their impacts on the prevalence of CAD (yes or no) among pregnant women. Results A total of 2876 pregnant women were included in this study. The prevalence of CAD was 10.6% (305), 3.6% (103), and 5.5% (159) in the first, second, and third trimesters of pregnancy, respectively. The logistic regression analysis revealed that poor sleep quality throughout the entire pregnancy were statistically associated with an increased prevalence of CAD, and the odds ratios (OR) with 95% confidence intervals (CI) were 2.817 (1.845, 4.301), 2.840 (1.855, 4.347), and 9.316 (5.835, 14.876) for the first, second, and third trimesters, respectively, when compared to good sleep quality. Additionally, compared to an intake frequency of 7 times per week, the frequency of egg intake ≤3 times per week in the first trimester (OR=2.025, 95%CI: 1.197, 3.425) and the frequency of egg intake of 4–6 times per week (OR=1.896, 95%CI: 1.117, 3.216) or ≤3 times per week (OR=1.906, 95%CI: 1.082, 3.357) in the third trimester were associated with an increased risk of CAD (P<0.05). Moreover, when compared to a frequency of exercise >3 times per week, never or almost never exercising in the second trimester (OR=2.218, 95%CI: 1.220, 4.035) was associated with an increased risk of CAD (P<0.05). The GLMM analysis also demonstrated a significant association between poor sleep quality, lower exercise frequency, or lower intake frequency of vegetables, eggs, or milk and an increased risk of CAD (P<0.05). Conclusion The prevalence of CAD among pregnant women in Shanghai follows a U-shaped distribution, with the highest rate occurring in early pregnancy and the lowest rate in mid-pregnancy. Factors such as poor sleep quality, inadequate intake of vegetables, eggs, or milk, and lack of exercise during pregnancy may increase the risk of CAD. Implementing lifestyle interventions during pregnancy could potentially reduce the risk of mental health problems and improve the overall health of both mothers and babies.

8.
China Pharmacy ; (12): 729-733, 2024.
文章 在 中文 | WPRIM | ID: wpr-1013110

摘要

OBJECTIVE To observe the clinical efficacy and safety of tofacitinib combined with hydroxychloroquine in the treatment of refractory rheumatoid arthritis (RA). METHODS From January 1, 2021 to January 1, 2022, 120 patients with refractory RA were selected as the study objects. According to the principle of random allocation, the patients were divided into group A, group B and group C, with 40 patients in each group. Group A was given Tofacitinib citrate tablet + Hydroxychloroquine sulfate tablet; group B was given Tofacitinib citrate tablet + Methotrexate tablet; group C was given Tofacitinib citrate tablet + Leflunomide tablet. Three groups were given relevant medicine for 6 months. Therapeutic efficacy and disease activity score 28 (DAS 28) of 3 groups as well as Sharp score, the levels of biochemical indicators [erythrocyte sedimentation rate (ESR), C- reactive protein (CRP)], immune indexes [rheumatoid factor (RF), anti-cyclic peptide containing citrulline (anti-CCP) antibody], serum cytokine indicators [interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α)] before and after treatment were observed; the occurrence of adverse drug reactions during treatment was recorded. RESULTS After treatment, the proportions of ACR50 and ACR70 patients in group A were significantly higher than groups B and C (P<0.05); DAS28 score, Sharp score, biochemical indicators, immune indexes and serum cytokine indicators of 3 groups were significantly lower than before treatment (P<0.05), and gradually decreased with prolonged treatment time; after 6 months of treatment, DAS28 score, Sharp score, RF, anti-CCP antibody, the levels of IL-6 and TNF-α in group A were significantly lower than group B and C (P<0.05). There was no significant difference in the incidence of diarrhea, nausea and vomiting, leukopenia, rash, abnormal liver and kidney function, or dizziness among 3 groups (P>0.05). CONCLUSIONS Tofacitinib combined with hydroxychloroquine shows good efficacy and safety for refractory RA.

9.
International Eye Science ; (12): 508-514, 2024.
文章 在 中文 | WPRIM | ID: wpr-1012812

摘要

AIM: To investigate the effect of inhibiting Ca2+/calmodulin-dependent protein kinase Ⅱ(CAMKⅡ)expression in adult retinal pigment epithelial cell line-19(ARPE-19)cells on the migration, invasion, and tube formation of human umbilical vein endothelial cells(HUVECs)in a non-contact co-culture system.METHODS: RNA sequencing was performed on ARPE-19 cells overexpressing CAMKⅡ-δ, and bioinformatics was used to analyze the biological functions of the differentially expressed genes. Transwell inserts was used to construct a non-contact co-culture system of ARPE-19 and HUVECs. The experimental groups included: blank group: only HUVECs were inoculated without ARPE-19 cells; control group: ARPE-19 and HUVECs cells were co-cultured with complete medium; AIP group(CAMKⅡ inhibition group): ARPE-19 cells in AIP(160 nmol/L)were co-cultured with HUVECs in complete medium. The migration, invasion and tube formation abilities of HUVECs were detected. The protein expression levels of CAMKⅡ/AMPK/mTOR/VEGFA were detected by Western blotting.RESULTS:Bioinformatics analysis found that the differentially expressed genes could affect biological processes such as cell growth and death and cell movement. The scratch test and transwell migration test showed that the relative mobility of HUVECs in the AIP group was significantly lower than that in the control group(all P&#x003C;0.05). However, the invasion and tube formation assay showed that the relative invasion rate and tube formation rate of the AIP group were not significantly different from those of the control group(both P&#x003E;0.05). Western blotting results showed that the expression levels of CAMKⅡ, P-mTOR, and VEGFA proteins in the AIP group were significantly lower than those in the control group, while the expression level of the P-AMPK protein was significantly higher than that in the control group(all P&#x003C;0.05).CONCLUSION:In the non-contact co-culture system, inhibition of CAMKⅡ expression in ARPE-19 cells significantly reduced the migration ability of HUVECs, but it cannot change the invasion and tube formation ability, which may be achieved by AMPK/mTOR/VEGFA.

10.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 215-224, 2024.
文章 在 中文 | WPRIM | ID: wpr-1011461

摘要

As a Chinese saying goes, "good Chinese medicinal material makes good medicine", the quality of Chinese herbal medicines is related to the development prospect of Chinese medicine industry in China. With the rapid development of new technologies such as traceability methods and monitoring instruments, it is imperative to integrate and innovate traditional Chinese herbal medicines with new-generation information technology in view of the quality problems existing in the current production and circulation of Chinese herbal medicines, and it is of great significance for the construction of traceability system to ensure the quality and safety of Chinese herbal medicines and to promote the industry of Chinese herbal medicines to move towards high-quality development. This paper reviews the development history of the traceability system of Chinese herbal medicines in China, takes the influencing factors of the quality of Chinese herbal medicines as the entry point, and proposes that the construction of the traceability system should satisfy the traceability requirements of the characteristics of Chinese herbal medicines and their traditional medication experience. By analyzing the influencing factors of the quality of Chinese herbal medicines, it is pointed out that focusing on the influencing factors to build a traceability system is of great significance for targeting the problematic links at a later stage and exploring the interrelationship between environmental factors and the quality of Chinese herbal medicines. Based on the previous explorations, the author summarizes the system framework, functional modules and practical applications of the traceability system of Chinese herbal medicines, and looks forward to the development of a traceability system with risk early warning function and expert decision-making function in its functional development. Finally, based on the factors affecting the quality of Chinese herbal medicines, the author puts forward several thoughts on construction of the traceability system, and makes an in-depth analysis and puts forward a solution for the current situation that a unified, standardized and universal traceability system has not yet been built, with a view to providing ideas and references for the construction of traceability system of Chinese herbal medicines.

11.
Chinese Journal of School Health ; (12): 91-94, 2024.
文章 在 中文 | WPRIM | ID: wpr-1011354

摘要

Objective@#The association between school bullying and attention deficit hyperactivity disorder (ADHD) symptoms among students in primary schools and the moderating role of gender was explored to provide scientific evidence for the prevention and control of school bullying.@*Methods@#A total of 4 764 students from 2 primary schools in Wuhan were selected using the convenience sampling method in March 2023. The Olweus Bully/Victim Questionnaire and Strengths and Difficulties Questionnaire were used. A Pearson χ 2 test was used to compare differences in school bullying rates among children with and without ADHD symptoms. Pearson correlation analysis and Process 3.3 were used to analyse the association between ADHD symptoms, and school bullying behaviour and the moderating role of gender.@*Results@#The reported rate of bullying victims in primary schools was 24.2% and the rate of bullying perpetration was 3.8%. The rate of ADHD symptom detection among primary school students was 5.9%. ADHD symptoms were positively associated with bullying and bullying victim behaviour ( r =0.16, 0.27, P <0.01). Specifically, the association between ADHD symptoms and bullying behavior tended to be stronger among boys than girls ( β boy =0.17, t =11.13; β girl =0.07, t =4.11, P <0.01).@*Conclusions@#ADHD symptoms are an important factor influencing school bullying behaviors in students, and gender moderates the association. In the process of preventing and controlling school bullying, ADHD symptoms and gender differences should be emphasized and comprehensive interventions should be implemented.

12.
Journal of Peking University(Health Sciences) ; (6): 1068-1073, 2023.
文章 在 中文 | WPRIM | ID: wpr-1010170

摘要

OBJECTIVE@#To investigate the associated factors of endogenous erythropoietin (EPO) and its association with 10-year risks of atherosclerotic cardiovascular disease in a Chinese community-based general population.@*METHODS@#The participants of this study were from an atherosclerosis cohort survey which was established by the Department of Cardiology, Peking University First Hospital in 2011. The cohort survey was performed in the Gucheng and Pingguoyuan communities of Shijingshan district in Beijing, China. The inclusion criteria of this study were: (1) endogenous EPO was measured; (2) health questionnaire data and other clinical data were complete; (3) participatants who had cardiovascular or cerebrovascular diseases (defined as self-reported coronary heart disease, stroke or transient ischemic attack) or anemia or estimated glomerular filtration rate (eGFR) < 60 mL/(min·1.73 m2) at baseline were excluded. Multivariate linear regression model was used to examine the associated factors of endogenous EPO. The participants were grouped into low (< 5%), moderate (5%-10%) and high risk (≥10%) groups, based on predicted 10-year cardiovascular disease risk using the prediction for atherosclerotic cardiovascular disease risk in China (China-PAR) equations.@*RESULTS@#A total of 4 013 participants were included. Mean age of them was (55.9±8.2) years, 62.2% (n=2 496) of them were female, and 46.3% (n=1 859), 70.9% (n=2 845), 21.9% (n=879) had hypertension, dyslipidemia and diabetes, individually. The average body mass index was (26.1±3.3) kg/m2. The median of EPO level was 12.8 (9.3-17.4) IU/L and 25.1% (n=998) were at high 10-years risk of cardiovascular disease. Hemoglobin (β=-0.05, 95%CI: -0.07 to -0.04) and eGFR ≥90 mL/(min·1.73 m2) (β=-0.05, 95%CI: -0.07 to -0.04) were associated with lower in transformed EPO levels while hypertension (β=0.08, 95%CI: 0.05 to 0.12) and obesity (β=0.14, 95%CI: 0.09 to 0.18) were associated with higher in transformed EPO levels in multivariate linear regression analyses. Ten-year cardiovascular disease risks were positively associated with in transformed EPO levels (β=0.07, 95%CI: 0.05 to 0.09). The participants at moderate and high cardiovascular disease risks had significant higher EPO levels than the low risk group (all P < 0.05).@*CONCLUSION@#In community-based Beijing populations, endogenous EPO was associated with hemoglobin, renal function, obesity and hypertension. Individuals at high 10-years cardiovascular disease risks have higher endogenous EPO levels. Endogenous EPO may be a potential risk marker of cardiovascular disease.


主题 s
Female , Humans , Male , Middle Aged , Cardiovascular Diseases/epidemiology , Erythropoietin , Hemoglobins , Hypertension/epidemiology , Obesity , Risk Factors
13.
Journal of Experimental Hematology ; (6): 1038-1043, 2023.
文章 在 中文 | WPRIM | ID: wpr-1009961

摘要

OBJECTIVE@#To establish HL-60 cells and adriamycin resistant HL-60 cells (H-60/ADR) in which the expression of homologous box gene 1 (SIX1) was inhibited, and investigate the effect of inhibiting the expression of SIX1 on the drug resistance.@*METHODS@#Lentivirus was used to transfect HL-60 and HL-60/ADR cells, and the cell lines stably inhibiting the expression of SIX1 were screened by puromycin. CCK-8 assay was used to detect the proliferation ability of cells in each group, apoptosis kit was used to detect the cell apoptosis, and real-time quantitative PCR was used to detect the expression level of drug-resistant related genes.@*RESULTS@#HL-60 and HL-60/ADR stably transfected cell lines with down-regulation of SIX1 expression were successfully constructed. Compared with control group, the inhibition of SIX1 expression significantly inhibited the proliferation of HL-60 and HL-60/ADR cells (P <0.05), increased the apoptosis rate (P <0.05), and the sensitivity of cells to adriamycin increased after inhibition of SIX1 expression.@*CONCLUSION@#Inhibition of SIX1 expression can improve cell sensitivity to adriamycin, and its role in reversing drug resistance may be related to the promotion of apoptosis gene expression.


主题 s
Humans , HL-60 Cells , Drug Resistance, Neoplasm/genetics , Leukemia, Myeloid, Acute , Doxorubicin/pharmacology , Apoptosis , Cell Proliferation , Homeodomain Proteins/genetics
14.
Chinese Journal of Medical Genetics ; (6): 473-477, 2023.
文章 在 中文 | WPRIM | ID: wpr-981773

摘要

OBJECTIVE@#To explore the clinical phenotype and genetic etiology of a child with early-onset severe obesity.@*METHODS@#A child who presented at the Department of Endocrinology, Hangzhou Children's Hospital on August 5, 2020 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing (WES) was carried out on the child. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#This child was a 2-year-and-9-month girl featuring severe obesity with hyperpigmentation on the neck and armpit skin. WES revealed that she has harbored compound heterozygous variants of the MC4R gene, namely c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp). Sanger sequencing confirmed that they were respectively inherited from her father and mother. The c.831T>A (p.Cys277*) has been recorded by the ClinVar database. Its carrier frequency among normal East Asians was 0.000 4 according to the 1000 Genomes, ExAC, and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as pathogenic. The c.184A>G (p.Asn62Asp) has not been recorded in the ClinVar, 1000 Genomes, ExAC and gnomAD databases. Prediction using IFT and PolyPhen-2 online software suggested it to be deleterious. Based on the guidelines from the ACMG, it was determined as likely pathogenic.@*CONCLUSION@#The c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp) compound heterozygous variants of the MC4R gene probably underlay the early-onset severe obesity in this child. Above finding has further expanded the spectrum of MC4R gene variants and provided a reference for the diagnosis and genetic counseling for this family.


主题 s
Female , Humans , Child, Preschool , Computational Biology , East Asian People , Genetic Counseling , Genomics , Mutation , Obesity, Morbid/genetics , Pediatric Obesity/genetics
15.
Chinese Journal of Reparative and Reconstructive Surgery ; (12): 788-795, 2023.
文章 在 中文 | WPRIM | ID: wpr-981669

摘要

OBJECTIVE@#To assess the effectiveness of supramalleolar osteotomy (SMOT) as a therapeutic intervention for varus-type ankle arthritis, while also examining the associated risk factors that may contribute to treatment failure.@*METHODS@#The clinical data of 82 patients (89 feet) diagnosed with varus-type ankle arthritis and treated with SMOT between January 2016 and December 2020 were retrospectively analyzed. The patient cohort consisted of 34 males with 38 feet and 48 females with 51 feet, with the mean age of 54.3 years (range, 43-72 years). The average body mass index was 24.43 kg/m 2 (range, 20.43-30.15 kg/m 2). The preoperative tibial anterior surface angle (TAS) ranged from 77.6° to 88.4°, with a mean of 84.4°. The modified Takakura stage was used to classify the severity of the condition, with 9 feet in stage Ⅱ, 41 feet in stage Ⅲa, and 39 feet in stage Ⅲb. Clinical functional assessment was conducted using the Maryland sore, visual analogue scale (VAS) score, and psychological and physical scores in Health Survey 12-item Short From (SF-12). Radiology evaluations include TAS, talar tilt (TT), tibiocrural angle (TC), tibial medial malleolars (TMM), tibiocrural distance (TCD), tibial lateral surface angle (TLS), and hindfoot alignment angle (HAA). The results of clinical failure, functional failure, and radiology failure were statistically analyzed, and the related risk factors were analyzed.@*RESULTS@#The operation time ranged from 45 to 88 minutes, with an average of 62.2 minutes. No complication such as fractures and neurovascular injuries was found during operation. There were 7 feet of poor healing of the medial incision; 9 pin tract infections occurred in 6 feet using external fixator; there were 20 cases of allograft and 3 cases of autograft with radiographic bone resorption. Except for 1 foot of severe infection treated with bone cement, the remaining 88 feet were primary healing, and the healing area was more than 80%. All patients were followed up 24-82 months, with an average of 50.2 months. Maryland score, VAS score, SF-12 psychological and physiological scores, and TAS, TC, TLS, TCD, TT, TMM, HAA, and Takakura stage were significantly improved at last follow-up ( P<0.05). Postoperative clinical failure occurred in 13 feet, functional failure in 15 feet, and radiology failure in 23 feet. Univariate analysis showed that obesity, TT>10°, and Takakura stage Ⅲb were risk factors for clinical failure, HAA≥15° and Takakura stage Ⅲb were risk factors for functional failure, and TT>10° was risk factor for radiographic failure ( P<0.05). Further logistic regression analysis showed that TT>10°, HAA≥15°, and TT>10° were risk factors for clinical failure, functional failure, and radiographic failure, respectively ( P<0.05).@*CONCLUSION@#SMOT is effective in the mid- and long-term in the treatment of varus-type ankle arthritis, but it should be used with caution in patients with obesity, severe hindfoot varus, severe talus tilt, and preoperative Takakura stage Ⅲb.


主题 s
Male , Female , Humans , Middle Aged , Ankle , Ankle Joint/surgery , Retrospective Studies , Osteoarthritis/surgery , Osteotomy/methods , Risk Factors
16.
Chinese Journal of Medical Science Research Management ; (4): 189-193, 2023.
文章 在 中文 | WPRIM | ID: wpr-995854

摘要

Objective:The study aims to analyze the problems faced in the clinical research and management of stem cells, explore the construction of the entire process of stem cells clinical research, and promote the healthy and orderly development of the clinical research of stem cells.Methods:By consulting the literature and retrieval of relevant policies and regulations, this study analyzed the problems faced by the supervision and management department, medical institutions and researchers, this study and discussed the countermeasures for strengthening the management of the entire process of clinical research of stem cells in medical institutions.Results:There were imperfect internal system and poor management process, insufficient quality control of cell products, low quality of project management, and insufficient clinical research consciousness of stem cell clinical research management in medical institutions.Conclusions:Combined with the current management measures, guidance principles and medical institutions, we should improve the internal system of medical institutions, promote the centralized management and informatization construction of projects, strengthen cell quality control in the hospital, cultivate talent echelons and improve academic and ethical review capabilities, actively explore the management model that is suitable for the entire process of stem cell clinical research for medical institutions in China.

17.
Chinese Journal of Ocular Fundus Diseases ; (6): 696-700, 2023.
文章 在 中文 | WPRIM | ID: wpr-995685

摘要

With the surged prevalence of myopia, the pathogenic mechanism underlying myopia has attracted attention. At present, it is generally believed in the flied that the reduced blood perfusion in the choroid is crucial for myopigenesis. Then, in the process of myopigenesis, how are the blurred visual signals transmitted to the choroidal blood vessels through the retina and retinal pigment epithelium, leading to the reduced choroidal blood perfusion. The cellular and molecular mechanisms underpinning this process remain elusive. In recent years, the theory of scleral hypoxia has attracted much attention. Popular signaling molecules in current research include dopamine, epidermal growth factor, retinoic acid, cholinergic molecules and adenosine, etc. These factors are likely to participate in signal transduction in retina and RPE, thus causing changes in choroidal blood flow and affecting the occurrence and development of myopia. Therefore, these signaling factors and their downstream pathways may provide new ideas for the prevention and control of myopia targets.

18.
Chinese Journal of Ocular Fundus Diseases ; (6): 368-374, 2023.
文章 在 中文 | WPRIM | ID: wpr-995638

摘要

Objective:To analyze the risk factors of postoperative vitreous hemorrhage (PVH) after pars plana vitrectomy (PPV) for vitreous hemorrhage (VH) secondary to retinal vein occlusion (RVO).Methods:A retrospective case-control study. A total of 195 RVO patients (195 eyes) with VH were first treated with PPV from November 2015 to December 2021 were included in this study. There were 102 males (102 eyes) and 93 females (93 eyes), with an age of (62.93±9.78) years. The patients were divided into PVH group (17 patients, 8.72%) and non-PVH group (178 patients, 91.28%) according to the occurrence of PVH. The time of occurrence of PVH was (140.33±130.85) days after PPV. All eyes were performed 23G or 25G systematic PPV by the same doctor. During the operation, different types of intraocular tamponade and intravitreal injection of anti-vascular endothelial growth factor or triamcinolone acetonide after operation were selected according to the severity of retinopathy. The follow-up time was (9.45±6.68) months. The baseline systemic parameters, ocular parameters and intraoperative parameters affecting the occurrence of PVH were analyzed. Baseline systemic parameters included sex, age, diabetes mellitus and hypertension; ocular parameters included RVO type, lens status, VH course, preoperative best corrected visual acuity and intraocular pressure; intraoperative parameters included cataract phacoemulsification, removal of internal limiting membrane, type of intraocular tamponade, type of intravitreal injection drug at the end of operation, etc. Kaplan-Meier survival analysis, and Cox univariate and multivariate regression analysis were performed to analyze the risk factors of PVH after PPV in RVO with VH patients.Results:In PVH group, the number of patients with diabetes was more than that in the non-PVH group, and the course of diabetes was longer, and differences were statistically significant. There were significant differences in RVO type, lens status and type of intraocular tamponade. Univariate Cox regression analysis showed that the combination with diabetes [odds ratio ( OR)=2.724, 95% confidence interval ( CI) 1.006-7.374, P=0.049], duration of diabetes ( OR=1.071, 95% CI 1.013-1.134, P=0.016), central retinal vein occlusion ( OR=4.387, 95% CI 1.421-13.546, P=0.010), intraocular lens ( OR=3.493, 95% CI 1.229-9.925, P=0.019), and intraocular gas tamponade ( OR=3.640, 95% CI 1.365-9.702, P=0.010) were associated with PVH. Multivariate Cox regression analysis showed that intraocular gas tamponade was independent risk factor for PVH. Conclusion:Intraocular gas tamponade can increase the risk of PVH after PPV in patients with VH secondary to RVO.

19.
Chinese Journal of Digestive Endoscopy ; (12): 115-120, 2023.
文章 在 中文 | WPRIM | ID: wpr-995367

摘要

Objective:To establish a nomogram based on features under endoscopic ultrasonography (EUS) for predicting the diagnosis of small gastric stromal tumors.Methods:The clinicopathological data of 189 patients with gastric submucosal tumors (diameter less than 2 cm) who underwent endoscopic resection at the Department of Gastroenterology, Tongji Hospital of Tongji University from June 2015 to August 2021 were retrospectively collected. All patients were divided into the modeling group ( n=126) and the validation group ( n=63) at 2∶1 by random function of software R. Independent influencing factors for the diagnosis of small gastric stromal tumors under EUS screened by univariable and multivariable logistic regression analysis were used to establish the diagnostic prediction nomogram. The receiver operator characteristic (ROC) curves were drawn to evaluate the discrimination of the model both in the modeling group and the validation group. Hosmer-Lemeshow test and calibration curve were used to evaluate the calibration of the model in both groups. Results:The age of patients >60 years ( OR=2.815, 95% CI:1.148-6.900, P=0.024), the lesions located in cardia/fundus ( OR=5.210, 95% CI:1.225-22.165, P=0.025), originated in muscularis propria ( OR=6.404, 95% CI:2.262-18.135, P<0.001) and of external growth ( OR=6.024, 95% CI:1.252-28.971, P=0.025) were independent influencing factors for the diagnosis of small gastric stromal tumors under EUS. The diagnostic prediction nomogram was established based on the four factors above. The areas under ROC curve of the modeling group and validation group were 0.834 (95% CI:0.765-0.903) and 0.780 (95% CI:0.667-0.893). Hosmer-Lemeshow test indicated that this model fit the data well ( χ2=10.23, P=0.176 in the modeling group; χ2=2.62, P=0.918 in the validation group). Calibration charts of the model drawn by Bootstrap method showed that the calibration curves fit well with the standard curves in both groups. Conclusion:The nomogram based on features under EUS for predicting the diagnosis of small gastric stromal tumors provides a visual reference for endoscopists to diagnose small gastric stromal tumors under EUS with good discrimination and calibration.

20.
Chinese Journal of Perinatal Medicine ; (12): 566-574, 2023.
文章 在 中文 | WPRIM | ID: wpr-995141

摘要

Objective:To analyze the incidence of stillbirth and the associated factors in pregnancy among pregnant residents in Wuhan.Methods:A previous birth cohort was retrospectively reviewed. The cohort was based on Wuhan Maternal and Child Information System, and the perinatal information of pregnant residents in Wuhan from January 1, 2011, to September 30, 2017 and information of selected cases was collected, including socio-demographic characteristics, pregnant history, and healthcare information during pregnancy and labor. Data on stillbirth, including fetal death in uterus and in labor, were selected for this study. Chi-square test was adopted for comparing the differences in pregnancy-related factors between live birth and stillbirth, and binary logistic regressions for exploring the influencing factors associated with the occurrence of stillbirth. Results:A total of 509 057 deliveries in Wuhan were included in this study, including 505 839 live births and 3 218 stillbirths (3 155 after exclusion of fetal death in labor), with an overall incidence of stillbirth of 6.32‰(3 218/509 057), and an annual incidence between 4.90‰ to 8.11‰. Statistically significant differences were found between the live birth and stillbirth group in the following items: maternal age [<25 years old: 19.28% (97 544/505 839) vs 19.36% (623/3 218); 25-30 years old: 48.45% (245 077/505 839) vs 45.15% (1 453/3 218); 30-35 years old: 26.09% (131 952/505 839) vs 26.29% (846/3 218); >35 years old: 6.18% (31 266/505 839) vs 9.20% (296/3 218)], educational background [middle school or below: 22.90% (115 833/505 839) vs 22.03% (709/3 218); high school: 36.37% (183 978/505 839) vs 38.72% (1 246/3 218); college or above: 40.73% (206 028/505 839) vs 39.25% (1 263/3 218)], occupation [brainworker or professionals: 33.51% (169 514/505 839) vs 31.54% (1 015/3 218); manual or freelance worker: 66.38% (335 763/505 839) vs 68.34% (2 199/3 218)], residential area [urban area: 70.00% (354 365/505 839) vs 76.32% (2 456/3 218); rural area: 30.00% (151 474/505 839) vs 23.68%(762/3 218)], and time of conception [spring (March to May): 24.27% (122 746/505 839) vs 24.08% (775/3 218); summer (June to August): 24.09% (121 867/505 839) vs 23.87% (768/3 218); fall (September to November): 26.69% (135 012/505 839) vs 25.08% (807/3 218); winter (December to next February): 24.95% (126 214/505 839) vs 26.97% (868/3 218)] (all P<0.05), but no significant difference was found in fetal gender ( P>0.05). Besides, gravidity [once: 49.32% (249 484/505 839) vs 47.02% (1 513/3 218); over twice: 50.68% (256 355/505 839) vs 52.98% (1 705/3 218)], parity [once: 73.60% (372 316/505 839) vs 77.07% (2 480/3 218); over twice: 26.40% (133 523/505 839) vs 22.93% (738/3 218)], history of stillbirth [0.33% (842/256 355) vs 0.65% (11/1 705)], hypertensive disorders in pregnancy [3.25% (16 464/505 839) vs 5.59% (180/3 218)], first trimester vaginal bleeding [2.02% (10 251/505 839) vs 2.61% (84/3 218)], placenta previa [0.98% (4 963/505 491) vs 2.64% (53/2 009)], and oligohydramnios [2.52% (12 764/505 839) vs 1.90% (61/3 218)] differed significantly between the two groups (all P<0.05). However, no significant difference was found between the two groups in terms of the proportion of women with gestational diabetes mellitus and previous spontaneous abortion (both P>0.05). After exclusion of fetal death in labor from the 3 218 stillbirths, the same results were achieved. Binary logistic regression analysis showed that women who were over 30 years old (30-35 years old: OR=1.42, 95% CI: 1.30-1.56; >35 years old: OR=2.59, 95% CI: 2.25-2.98), with a high school degree or below (middle school or below: OR=1.37, 95% CI: 1.21-1.55; high school: OR=1.28, 95% CI: 1.16-1.42), manual or freelance worker ( OR=1.18, 95% CI: 1.07-1.31), in the urban area ( OR=1.43, 95% CI:1.31-1.57), and gravidity ≥ 2 times ( OR=1.32, 95% CI: 1.21-1.43), primiparity ( OR=1.76, 95% CI: 1.58-1.96), gestational hypertension ( OR=2.80, 95% CI: 2.40-3.27), vaginal bleeding in the first trimester ( OR=1.35, 95% CI: 1.08-1.68), placenta previa ( OR=10.86, 95% CI: 8.84-13.35) and history of stillbirth ( OR=2.27, 95% CI: 1.30-3.98) were all risk factors of stillbirth. Conclusion:Pregnant women who were over 30 years old, less educated, manual worker or freelance or with a history of adverse pregnancy, vaginal bleeding in the first trimester, hypertension in pregnancy, and placenta previa are at higher risk of stillbirth

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