Objective:To clarify the natural course of renal angiomyolipoma and the risk factors for its progression.Methods:This was a retrospective case-control study that included 401 patients diagnosed several times by ultrasound examination in the hospital physical examination system from January 2012 to June 2024. All patients were untreated. There were 128 male cases (31.90%) and 273 female cases (68.10%). The average age at initial diagnosis was (44.04 ± 10.24) years (range 22-78 years). The median longest diameter of the tumor at initial diagnosis was 9.0 (7.0, 11.5) mm. There were 359 cases (89.50%) with single tumors and 42 cases (10.50%) with multiple tumors. The patients were divided into the progression group(≥1 mm/year) and the non-progression group (<1 mm/year)based on the average growth rate of tumor. The differences in gender, age at initial diagnosis, initial tumor size, number of lesions and lesion site between the two groups were compared. Univariate logistic regression analysis was used to explore the relationship between the above factors and the progression of renal angiomyolipoma. Multivariate logistic regression analysis was conducted to identify the risk factors for progression.Results:A total of 401 cases were followed up for an average of (88.15 ± 21.09) months (range 48-140 months). The median maximum diameter of the tumors at the initial diagnosis was 9.0 (7.0, 11.5) mm, and at the end of the follow-up, it was 11 (8, 14) mm. The average growth rate was 0.38 mm/year, and the median growth rate was 0.25 (0, 0.60) mm/year. Among them, 341 cases (85.04%) were in the non-progression group with an average growth rate of 0.14 mm/year, and 60 cases (14.96%) were in the progression group with an average growth rate of 1.74 mm/year. The age of the progression group was lower than that of the non-progression group [(41.43 ± 9.64) years vs. (44.50±10.29) years], the initial maximum diameter of the tumors in the progression group was larger than that in the non-progression group [11.0 (8.0, 16.0) mm vs. 9.0 (7.0, 11.0) mm], and the proportion of multiple tumors in the progression group was higher than that in the non-progression group [14 cases (23.30%) vs. 28 cases (8.20%)], and the differences were all statistically significant ( P<0.05). Age at initial diagnosis( OR=0.96, 95% CI 0.93-0.99), initial tumor size ( OR=1.08, 95% CI 1.04-1.12) and number of lesions ( OR=2.96, 95% CI 1.38-6.34) were the risk factors for the growth of renal angiomyolipoma ( P<0.05), according to the results of multivariate logistic regression analysis. Conclusions:The natural history of most renal angiomyolipoma shows slow growth or relative quiescence, with a small number showing a significant increasing trend. Age at initial diagnosis, initial tumor size and number of lesions were independent risk factors for the growth of renal angiomyolipoma.

Objectives:This study aims to investigate the correlation between urinary crystals and the components of urinary calculi in patients with urinary calculi，as well as the accuracy of urine crystals in predicting stone components.Methods:A retrospective analysis was performed on 280 patients with positive urine crystal and urinary calculi from January 2022 to December 2024. There were a total of 280 patients consisting of 185 males and 95 females，aged from 23 to 80 years，with an average age of（49.1 ± 12.3）years. Among them，there were 243 cases of renal stones or both renal and ureteral stones，25 cases of ureteral stones，and 12 cases of bladder stones. In all cases，10 ml of morning urine was collected preoperatively and sent for examination within one hour. After centrifuging at 400 g for 1 minute，the urine sediment was examined under a microscope. All positive crystals were categorized into calcium oxalate，uric acid，calcium phosphate，magnesium ammonium phosphate，and cystine based on the morphology of the crystals. Calculi were collected after endoscopic surgery，calculi composition was analyzed using infrared spectroscopy，and the main component（the first predominant component）was recorded. Statistical analysis was conducted using a 5×5 contingency table to analyze the correlation and contingency coefficient，and the positive predictive values of the urinary crystals for predicting calculi components were calculated. Results:Among the 280 patients，calcium oxalate crystals were found in 241 cases，uric acid in 25 cases，calcium phosphate in 7 cases，magnesium ammonium phosphate in 5 cases，and cystine in 2 cases. The main components of 280 calculi were calcium oxalate in 232 cases，uric acid in 21 cases，calcium phosphate in 24 cases，magnesium ammonium phosphate in 1 case，and cystine in 2 cases. There was a statistically significant correlation between urinary crystals and stone components（ χ2 = 152.46， P < 0.01），and the contingency coefficient between crystals and calculi components was 0.809. The overall positive expected value of urine crystals was 87.5%（245/280），among which the positive expected value of calcium oxalate crystals was 91.7%（221/241），uric acid crystals was 72.0%（18/25），calcium phosphate was 42.9%（3/7），magnesium ammonium phosphate was 20.0%（1/5），and cystine was 100.0%（2/2）. Conclusions:The urinary crystals of patients with calculi are significantly related to the main components of the calculi. Using urinary crystals to predict the components of the calculi has a relatively high accuracy.

Objective:To clarify the natural course of renal angiomyolipoma and the risk factors for its progression.Methods:This was a retrospective case-control study that included 401 patients diagnosed several times by ultrasound examination in the hospital physical examination system from January 2012 to June 2024. All patients were untreated. There were 128 male cases (31.90%) and 273 female cases (68.10%). The average age at initial diagnosis was (44.04 ± 10.24) years (range 22-78 years). The median longest diameter of the tumor at initial diagnosis was 9.0 (7.0, 11.5) mm. There were 359 cases (89.50%) with single tumors and 42 cases (10.50%) with multiple tumors. The patients were divided into the progression group(≥1 mm/year) and the non-progression group (<1 mm/year)based on the average growth rate of tumor. The differences in gender, age at initial diagnosis, initial tumor size, number of lesions and lesion site between the two groups were compared. Univariate logistic regression analysis was used to explore the relationship between the above factors and the progression of renal angiomyolipoma. Multivariate logistic regression analysis was conducted to identify the risk factors for progression.Results:A total of 401 cases were followed up for an average of (88.15 ± 21.09) months (range 48-140 months). The median maximum diameter of the tumors at the initial diagnosis was 9.0 (7.0, 11.5) mm, and at the end of the follow-up, it was 11 (8, 14) mm. The average growth rate was 0.38 mm/year, and the median growth rate was 0.25 (0, 0.60) mm/year. Among them, 341 cases (85.04%) were in the non-progression group with an average growth rate of 0.14 mm/year, and 60 cases (14.96%) were in the progression group with an average growth rate of 1.74 mm/year. The age of the progression group was lower than that of the non-progression group [(41.43 ± 9.64) years vs. (44.50±10.29) years], the initial maximum diameter of the tumors in the progression group was larger than that in the non-progression group [11.0 (8.0, 16.0) mm vs. 9.0 (7.0, 11.0) mm], and the proportion of multiple tumors in the progression group was higher than that in the non-progression group [14 cases (23.30%) vs. 28 cases (8.20%)], and the differences were all statistically significant ( P<0.05). Age at initial diagnosis( OR=0.96, 95% CI 0.93-0.99), initial tumor size ( OR=1.08, 95% CI 1.04-1.12) and number of lesions ( OR=2.96, 95% CI 1.38-6.34) were the risk factors for the growth of renal angiomyolipoma ( P<0.05), according to the results of multivariate logistic regression analysis. Conclusions:The natural history of most renal angiomyolipoma shows slow growth or relative quiescence, with a small number showing a significant increasing trend. Age at initial diagnosis, initial tumor size and number of lesions were independent risk factors for the growth of renal angiomyolipoma.

Objectives:This study aims to investigate the correlation between urinary crystals and the components of urinary calculi in patients with urinary calculi，as well as the accuracy of urine crystals in predicting stone components.Methods:A retrospective analysis was performed on 280 patients with positive urine crystal and urinary calculi from January 2022 to December 2024. There were a total of 280 patients consisting of 185 males and 95 females，aged from 23 to 80 years，with an average age of（49.1 ± 12.3）years. Among them，there were 243 cases of renal stones or both renal and ureteral stones，25 cases of ureteral stones，and 12 cases of bladder stones. In all cases，10 ml of morning urine was collected preoperatively and sent for examination within one hour. After centrifuging at 400 g for 1 minute，the urine sediment was examined under a microscope. All positive crystals were categorized into calcium oxalate，uric acid，calcium phosphate，magnesium ammonium phosphate，and cystine based on the morphology of the crystals. Calculi were collected after endoscopic surgery，calculi composition was analyzed using infrared spectroscopy，and the main component（the first predominant component）was recorded. Statistical analysis was conducted using a 5×5 contingency table to analyze the correlation and contingency coefficient，and the positive predictive values of the urinary crystals for predicting calculi components were calculated. Results:Among the 280 patients，calcium oxalate crystals were found in 241 cases，uric acid in 25 cases，calcium phosphate in 7 cases，magnesium ammonium phosphate in 5 cases，and cystine in 2 cases. The main components of 280 calculi were calcium oxalate in 232 cases，uric acid in 21 cases，calcium phosphate in 24 cases，magnesium ammonium phosphate in 1 case，and cystine in 2 cases. There was a statistically significant correlation between urinary crystals and stone components（ χ2 = 152.46， P < 0.01），and the contingency coefficient between crystals and calculi components was 0.809. The overall positive expected value of urine crystals was 87.5%（245/280），among which the positive expected value of calcium oxalate crystals was 91.7%（221/241），uric acid crystals was 72.0%（18/25），calcium phosphate was 42.9%（3/7），magnesium ammonium phosphate was 20.0%（1/5），and cystine was 100.0%（2/2）. Conclusions:The urinary crystals of patients with calculi are significantly related to the main components of the calculi. Using urinary crystals to predict the components of the calculi has a relatively high accuracy.

OBJECTIVE To investigate ameliorative effects and mechanisms of two probiotics(Bacillus subtilis,Lactobacillus acidophilus)combined with Aurantii Fructus Immaturus(AFI)on functional dyspepsia(FD)in rats.METHODS Rats were randomly divided into blank group,model group,positive control group(domperidone group,2.7 mg/kg),AFI group(9 g/kg),L.acidophilus group(5×107 cfu/kg),B.subtilis group(5×107 cfu/kg),L.acidophilus+AFI group(L.acidophilus 5×107 cfu/kg+AFI 9 g/kg),and B.subtilis+AFI group(B.subtilis 5×107 cfu/kg+AFI 9 g/kg),with 8 rats in each group.Except for the blank group,FD model was established by tail-clamping stimulation+hunger and satiety disorder+swimming exhaustion in other groups.After modeling,each group was given the corresponding drug/probiotic suspensions/physiological saline intragastrically,once a day,for 14 consecutive days.After the last medication,gastric emptying rate and the rate of propulsion of the small intestine in rats were measured;the levels of brain-gut peptide-related indicators[gastrin(GAS),substance P(SP),vasoactive intestinal peptide(VIP),somatostatin(SS)and cholecystokinin(CCK)]in the serum of rats were measured.The pathological morphology of the gastric antrum tissue and duodenal tissue was observed.Cecal contents from the rats were collected for gut microbiota sequencing analysis.The protein expression levels of tyrosine kinase receptor c-Kit and stem cell factor(SCF)in the gastric antrum tissue,as well as Toll-like receptor 4(TLR4),myeloid differentiation factor 88(MyD88),and nuclear factor κB(NF-κB)in the duodenal tissue of the rats were detected.RESULTS Compared with the blank group,model group showed significantly lower gastric emptying rate,small intestinal propulsion rate,serum levels of GAS and SP,relative abundance of Firmicutes,Ace,Chao and Sobs indexes of the gut microbiota,and protein levels of SCF and c-Kit in gastric antrum(P＜0.05),while serum levels of VIP,SS and CCK,relative abundance of Bacteroidetes,as well as protein expressions of TLR4,MyD88,and NF-κB,were significantly higher(P＜0.05).The histological structure of the gastric antrum tissue appeared basically normal;however,abnormalities were observed in the duodenal structure,with a significant infiltration of inflammatory cells visible.Compared with the model group,all treatment groups significantly modulated most of the above indexes(P＜0.05).The histological structure of the gastric antrum tissue was normal.Except for the B.subtilis group and the B.subtilis+AFI group,the pathological states of the duodenum in the remaining rats gradually recovered.Compared with each single drug group,most of above indexes in rats from each combination group showed further improvement(P＜0.05).CONCLUSIONS The combination of AFI with two probiotics can improve gastrointestinal motility in FD rats,and the effect is superior to that of using the drugs alone.The specific underlying mechanisms may be related to the activation of the SCF/c-Kit signaling pathway and the inhibition of the TLR4/MyD88/NF-κB signaling pathway.

Objective:To investigate the characteristics of voice-personality perception in blind persons and its relationship with their self-evaluation of personality.Methods:A total of 68 blind persons and 68 sighted peers were respectively recruited to rated 30 short voice recordings on traits of voice-personality perception(including maturi-ty,sunshine,cuteness,indolence,seriousness,simpleness and honestness,gentleness,kindness,self-confidence and optimism).Meanwhile,data on self-evaluations of the above participants and speakers in those recordings,along with acquaintance's ratings on speakers'personality were collected.Results:The research found that compared to sighted peers,blind individuals had a lower voice-personality rating on speakers in traits of sunshine,seriousness,gentleness,kindness,self-confidence and optimism(Ps＜0.005).It also detected that the voice-personality ratings on these speakers by blind individuals had a greater deviation from the rating by these speakers/acquaintances in sunshine;gentleness;kindness and optimism(Ps＜0.005).Meanwhile,blind individuals had lower self-rating on personality in sunshine and optimism(Ps＜0.005).Furthermore,self-ratings of sunshine from blind individuals were positively associated with their voice-personality ratings of optimism on speakers(r=0.28,P＜0.05),and their self-ratings of optimism were positively related to their voice-personality ratings of sunshine and self-confi-dence on speakers(r=0.27,0.28,Ps＜0.05).Conclusion:The study shows that blind individuals have lower voice-personality ratings on others than their sighted peers,which might be due to some of their more negative per-sonality characteristics.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People's Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). A GTX genetic analysis system was used to analyze the WES data and screen candidate variants for ASD. Candidate variant was verified by Sanger sequencing and bioinformatics analysis. Real-time fluorescent quantitative PCR (qPCR) was carried out to compare the expression of mRNA of the NSD1 gene between this child and 3 healthy controls and 5 other children with ASD. RESULTS: The patient, an 8-year-old male, has manifested with ASD, mental retardation and CHD. WES analysis revealed that he has harbored a heterozygous c.3385+2T>C variant in the NSD1 gene, which may affect the function of its protein product. Sanger sequencing showed that neither of his parent has carried the same variant. By bioinformatic analysis, the variant has not been recorded in the ESP, 1000 Genomes and ExAC databases. Analysis with Mutation Taster online software indicated it to be disease causing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. By qPCR analysis, the expression level of mRNA of the NSD1 gene in this child and 5 other children with ASD was significantly lower than that of the healthy controls (P < 0.001). CONCLUSION The c.3385+2T>C variant of the NSD1 gene can significantly reduce its expression, which may predispose to ASD. Above finding has enriched the mutational spectrum the NSD1 gene.
Male ; Child ; Humans ; Autism Spectrum Disorder/genetics* ; Heart Defects, Congenital/genetics* ; Computational Biology ; Genomics ; Mutation ; RNA, Messenger/genetics* ; Histone-Lysine N-Methyltransferase/genetics*

The integration of regional medical centers and community health service centers is an effective way to improve the professional ability of general practitioners in post-practice training. Its major advantage lies in the establishment of a regional general practitioner ability improvement system integrating assessment, practice and teaching under the unified health administrative department. This article introduces the path of general practitioner post-training developed by Shanghai Tongren Hospital in forms of a regional medical center combined with the community health service center under the "integrated dual-drives" model, which was carried out in Shanghai Changning District; and its preliminary accomplishment is also discussed. It may provide reference for regional medical centers to improve the ability of general practitioners through practice-driven and teaching-driven.

Objective:To analyze the clinical knowledge and training needs of general practitioners from subjective perception and objective assessment, and to analyze their relationship.Methods:A survey was conducted among general practitioners from community health service centers in Shanghai Changning district from September to December 2020. Based on the general practitioner competency indicator system designed by the project team, 17 clinical knowledge competency evaluation indicators were developed through expert consultation, and used for subjective perception and objective assessment of clinical knowledge and learning needs among general practitioners. The influencing factors of objective assessment scores were analyzed, and the relationship between subjective perception and objective assessment scores was analyzed using the four quadrant method.Results:A total of 136 general practitioners participated in the study with the mean age of (39.25±5.90) years, most of whom were attending physician (67.65%, 92/136) and had undergraduate education (88.20%, 122/136). The average daily application frequency score was (1.55±0.21), and the training needs score was (1.65±0.09) for 17 clinical knowledge items; the average objective evaluation score was (74.21±14.0) points. The older the age ( OR=1.25, 95% CI:1.14-1.37), the higher the educational level ( OR=2.11, 95% CI:1.57-2.83), and the longer the working years ( OR=1.16, 95% CI:1.04-1.30) were significantly correlated with the higher objective evaluation scores (all P<0.05). The objective evaluation scores of endocrine diseases such as diabetes, cerebrovascular diseases and respiratory diseases are the highest, and the daily application frequency and learning needs are high (the first quadrant); The objective evaluation scores of common orthopedic diseases, common psychological diseases, and planned immunity indicators were relatively low, but their daily application frequency and learning needs were relatively high (second quadrant). The objective evaluation scores of indicators such as common malignant tumors, common dermatology diseases and health problems, and common ENT diseases were low, and the daily application frequency and learning needs were also low (the third quadrant). The objective evaluation scores of indicators such as hospice and palliative care are relatively high, but their daily application frequency and training needs are relatively low (listed in the fourth quadrant). Conclusions:The clinical knowledge levels of general practitioners are correlated with age, education level, and years of practice. There is a certain overlap between the objective evaluation results of clinical knowledge and the frequency of knowledge usage and training needs of general practitioners, and a targeted training mechanism should be established.

Objective:To construct an evaluation scale for post competence of family doctors based on knowledge-skill-management model.Methods:The evaluation dimensions and indicators for post competency of family doctors were preliminarily developed through literature review, internal group meeting and brainstorming, and in-depth interviews of experts. And 16 experts in the fields of general practice and health management were invited for 2 rounds of Delphi consultation from December 2020 to April 2021. A competency evaluation scale for family doctors based on the dimensions of knowledge, skills and management was finally constructed.Results:The age of the experts was (47.9±7.3) years with a working experience of (24.6±7.8) years. The Cronbach′s α of the questionnaires was 0.891 and the KMO was 0.844. The positive coefficients for 2 rounds of expert consultation were 100%; the familiarity level of experts was 0.86 and authority level was 0.89 in the first round consultation, and those were 0.84 and 0.90 in the second round consultation. After 2 rounds of consultation, the coordination coefficient of expert opinions in the knowledge and skill dimensions was>0.5, and that in the management dimension and overall evaluation system was>0.3. After discussion 2 indicators were deleted in the first round of consultation. The finally constructed family doctor post competency evaluation scale included 3 dimensions, 8 secondary indicators and 61 tertiary indicators. Conclusion:Through the Delphi consultation, we have successfully constructed an evaluation scale for post competence of family doctors based on the three dimensions of knowledge, skills and management.