Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.

Objective:To explore the relationship between the morphology of the carotid siphon, its related risk factors, and cerebral blood flow perfusion in patients with arteriosclerotic cerebral small vessel disease (aCSVD), and provide imaging evidence for the etiology of aCSVD.Methods:A total of 130 aCSVD patients hospitalized in the Department of Neurology of the First People′s Hospital of Hefei from March 2022 to June 2024, all of whom underwent multimodal imaging assessments, were enrolled. The baseline data were collected, and the morphology of the carotid siphon was visually evaluated using post-processing of head and neck computed tomography angiography (CTA), which was categorized into U-type ( n=63), C-type ( n=32), and V-type ( n=35). Calcification degree was semi-quantitatively assessed based on transverse CTA images. Cerebral perfusion was measured using magnetic resonance arterial spin labeling. The relationship between different siphon segment morphologies, calcification degrees, their risk factors, and cerebral blood flow perfusion was analyzed using analysis of variance and multinomial Logistic regression. Results:Univariate analysis of the 3 siphon types showed significant differences in low-density lipoprotein cholesterol [U-type (2.44±0.84) mmol/L,V-type (2.21±0.57) mmol/L, C-type (2.89±1.07) mmol/L, F=5.578, P=0.005], calcification degree [Among the 63 cases in the U-type group, 19 cases (30.15%) had mild calcification, 20 cases (31.75%) had moderate calcification, and 24 cases (38.10%) had severe calcification; among the 35 cases in the V-type group, 20 cases (57.14%) had mild calcification, 10 cases (28.57%) had moderate calcification, and 5 cases (14.29%) had severe calcification; among the 32 cases in the C-type group, 12 cases (37.50%) had mild calcification, 14 cases (43.75%) had moderate calcification, and 6 cases (18.75%) had severe calcification; χ2=13.092, P=0.011], and total aCSVD load [modified aCSVD load score: U-type 4.00(1.00, 4.00),V-type 3.00(1.00, 4.00),C-type 2.00(2.00, 4.00), H=9.997, P=0.007]. Multivariate Logistic regression revealed that patients with U-shaped siphons had a significantly higher overall aCSVD load than those with C-shaped siphons, with a regression coefficient of 0.728, and a statistically significant difference ( OR=2.070 ,95% CI 1.026-4.178, P=0.042). Additionally, total brain and white matter cerebral blood flow were decreased in patients with U-type siphons compared to those with C-type and V-type, primarily involving bilateral superior frontal gyri, left orbital frontal gyrus, and left straight gyrus regions (false discovery rate correction, P<0.05). Conclusions:The imaging manifestations of aCSVD are closely related to the shape of the internal carotid artery siphon.The U type siphon is more likely to lead to hemodynamic changes, resulting in decreased global and regional cerebral blood flow, and demonstrating a higher overall burden of aCSVD, which has certain clinical reference value for assessing the etiology of aCSVD.

Objective·To investigate the association of insulin resistance with left ventricular(LV)remodeling after ST-segment elevation myocardial infarction(STEMI)in patients without a history of diabetes mellitus.Methods·This study consecutively enrolled STEMI patients without a history of diabetes mellitus who underwent percutaneous coronary intervention in the Department of Cardiology of Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,from January 2014 to December 2022.The patients were followed up for 6 months.Age,gender,smoking status,blood pressure,body mass index,biochemical indexes(liver function,kidney function,lipid profiles,glycemic levels and peak troponin levels,etc.)and pharmacological treatment were recorded.Homeostasis model assessment of insulin resistance(HOMA-IR)was used to evaluate insulin resistance and mean values of visit-to-visit HOMA-IR were calculated.Patients were divided into 4 groups(low-level group,low-to-medium-level group,medium-to-high-level group,and high-level group)according to the quartiles of mean HOMA-IR levels.Echocardiography was performed at baseline and during follow-up.Then the association between mean values of insulin resistance and post-infarction LV remodeling was analyzed.Results·A total of 219 patients were finally included,with an average age of(62.7±11.9)years,and male patients accounted for 85.4％(187 cases).The average follow-up time was(6.4±1.8)months.During follow-up,the average number of HOMA-IR measurements was(4.32±2.18),and the mean value of visit-to-visit HOMA-IR was 2.41(1.58,3.98),which was higher than normal range.The results showed that post-infarction LV end-diastolic diameter(P=0.027)and LV end-diastolic volume index(P=0.013)generally showed a trend for dilation with increasing mean HOMA-IR levels.Pearson correlation analysis revealed the mean values of visit-to-visit HOMA-IR were positively correlated to changes in LV dimensions(△ LV end-diastolic volume index:r=0.20,P=0.003;△ LV end-diastolic diameter:r=0.21,P=0.002).Multivariate regression analysis demonstrated that higher HOMA-IR was independently associated with greater LV dilation after STEMI,even after adjusting for age,gender,traditional risk factors(history of hypertension,body mass index,smoking status,renal function and lipid profiles),pharmacological treatment,baseline LV ejection fraction and peak troponin levels.Compared with patients with the lowest quartile of HOMA-IR,those with the highest HOMA-IR quartile exhibited a 7.727 mL/m2 increase in LV end-diastolic volume index(P＜0.001).Conclusion·This study reveals that insulin resistance is prevalent in STEMI patients without a history of diabetes mellitus.Insulin resistance is an independent predictor of adverse LV remodeling in this population.

Objective·To investigate the association of insulin resistance with left ventricular(LV)remodeling after ST-segment elevation myocardial infarction(STEMI)in patients without a history of diabetes mellitus.Methods·This study consecutively enrolled STEMI patients without a history of diabetes mellitus who underwent percutaneous coronary intervention in the Department of Cardiology of Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,from January 2014 to December 2022.The patients were followed up for 6 months.Age,gender,smoking status,blood pressure,body mass index,biochemical indexes(liver function,kidney function,lipid profiles,glycemic levels and peak troponin levels,etc.)and pharmacological treatment were recorded.Homeostasis model assessment of insulin resistance(HOMA-IR)was used to evaluate insulin resistance and mean values of visit-to-visit HOMA-IR were calculated.Patients were divided into 4 groups(low-level group,low-to-medium-level group,medium-to-high-level group,and high-level group)according to the quartiles of mean HOMA-IR levels.Echocardiography was performed at baseline and during follow-up.Then the association between mean values of insulin resistance and post-infarction LV remodeling was analyzed.Results·A total of 219 patients were finally included,with an average age of(62.7±11.9)years,and male patients accounted for 85.4％(187 cases).The average follow-up time was(6.4±1.8)months.During follow-up,the average number of HOMA-IR measurements was(4.32±2.18),and the mean value of visit-to-visit HOMA-IR was 2.41(1.58,3.98),which was higher than normal range.The results showed that post-infarction LV end-diastolic diameter(P=0.027)and LV end-diastolic volume index(P=0.013)generally showed a trend for dilation with increasing mean HOMA-IR levels.Pearson correlation analysis revealed the mean values of visit-to-visit HOMA-IR were positively correlated to changes in LV dimensions(△ LV end-diastolic volume index:r=0.20,P=0.003;△ LV end-diastolic diameter:r=0.21,P=0.002).Multivariate regression analysis demonstrated that higher HOMA-IR was independently associated with greater LV dilation after STEMI,even after adjusting for age,gender,traditional risk factors(history of hypertension,body mass index,smoking status,renal function and lipid profiles),pharmacological treatment,baseline LV ejection fraction and peak troponin levels.Compared with patients with the lowest quartile of HOMA-IR,those with the highest HOMA-IR quartile exhibited a 7.727 mL/m2 increase in LV end-diastolic volume index(P＜0.001).Conclusion·This study reveals that insulin resistance is prevalent in STEMI patients without a history of diabetes mellitus.Insulin resistance is an independent predictor of adverse LV remodeling in this population.

Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.

Objective:To explore the relationship between the morphology of the carotid siphon, its related risk factors, and cerebral blood flow perfusion in patients with arteriosclerotic cerebral small vessel disease (aCSVD), and provide imaging evidence for the etiology of aCSVD.Methods:A total of 130 aCSVD patients hospitalized in the Department of Neurology of the First People′s Hospital of Hefei from March 2022 to June 2024, all of whom underwent multimodal imaging assessments, were enrolled. The baseline data were collected, and the morphology of the carotid siphon was visually evaluated using post-processing of head and neck computed tomography angiography (CTA), which was categorized into U-type ( n=63), C-type ( n=32), and V-type ( n=35). Calcification degree was semi-quantitatively assessed based on transverse CTA images. Cerebral perfusion was measured using magnetic resonance arterial spin labeling. The relationship between different siphon segment morphologies, calcification degrees, their risk factors, and cerebral blood flow perfusion was analyzed using analysis of variance and multinomial Logistic regression. Results:Univariate analysis of the 3 siphon types showed significant differences in low-density lipoprotein cholesterol [U-type (2.44±0.84) mmol/L,V-type (2.21±0.57) mmol/L, C-type (2.89±1.07) mmol/L, F=5.578, P=0.005], calcification degree [Among the 63 cases in the U-type group, 19 cases (30.15%) had mild calcification, 20 cases (31.75%) had moderate calcification, and 24 cases (38.10%) had severe calcification; among the 35 cases in the V-type group, 20 cases (57.14%) had mild calcification, 10 cases (28.57%) had moderate calcification, and 5 cases (14.29%) had severe calcification; among the 32 cases in the C-type group, 12 cases (37.50%) had mild calcification, 14 cases (43.75%) had moderate calcification, and 6 cases (18.75%) had severe calcification; χ2=13.092, P=0.011], and total aCSVD load [modified aCSVD load score: U-type 4.00(1.00, 4.00),V-type 3.00(1.00, 4.00),C-type 2.00(2.00, 4.00), H=9.997, P=0.007]. Multivariate Logistic regression revealed that patients with U-shaped siphons had a significantly higher overall aCSVD load than those with C-shaped siphons, with a regression coefficient of 0.728, and a statistically significant difference ( OR=2.070 ,95% CI 1.026-4.178, P=0.042). Additionally, total brain and white matter cerebral blood flow were decreased in patients with U-type siphons compared to those with C-type and V-type, primarily involving bilateral superior frontal gyri, left orbital frontal gyrus, and left straight gyrus regions (false discovery rate correction, P<0.05). Conclusions:The imaging manifestations of aCSVD are closely related to the shape of the internal carotid artery siphon.The U type siphon is more likely to lead to hemodynamic changes, resulting in decreased global and regional cerebral blood flow, and demonstrating a higher overall burden of aCSVD, which has certain clinical reference value for assessing the etiology of aCSVD.

Objective To explore the surgical procedure coding for cholelithiasis,analyze common coding errors,and propose improvement solutions.Methods The knowledge on cholelithiasis was illustrated.Common surgical procedures for cho-lelithiasis and their ICD-9-CM-3 codes were introduced.The search path for surgical procedure codes was summarized.Errors in coding were analyzed by combining clinical cases.Results Open cholecystectomy for gallbladder stones was coded as 51.04,for common bile duct stones as 51.41,and other bile duct stones as 51.49.Laparoscopic and endoscopic removal of biliary stones were coded as 51.88,percutaneous gallbladder stone extraction as 51.88,common bile duct as 51.96,and other bile duct as 51.98.Non-standard writing by clinical physicians and insufficient coding skills of coders was easy to lead to coding errors.Con-clusion Errors in surgical procedure coding for cholelithiasis can be reduced by strengthening clinical communication,standardi-zing medical record writing,promoting mutual learning between coders and clinical physicians,enhancing their own professional skills,and establishing a multi-level quality control system for coding in the Medical Record Department

This study aims at examining the application and development of digital teaching materials in the field of epidemiology, encompassing both China and international contexts. The research involved conducting search on websites and literature databases to assess the status of digital teaching materials in epidemiology, nationally and internationally. At present, in China, digital teaching materials used in epidemiology are primarily presented in the form of printed books with added QR codes, providing teaching resources such as videos and exercises. However, issues with the level of interactivity have been identified. In foreign countries, with stronger emphasis placed on personalization, interactivity, and the use of rich media technologies in the digital teaching materials, epidemiologically. Enhanced digitization regarding materials and learning outcomes is achieved through features such as real-time notes, interactive animations, and quizzes. These approaches are considered worth considering for adoption. This study provides valuable insights for the digital transformation of epidemiology education.

Objective:To investigate the clinical features and therapeutic efficacy of patients with hereditary leiomyomatosis and renal cell carcinoma(RCC) syndrome-associated RCC (HLRCC-RCC) in China.Methods:The clinical data of 119 HLRCC-RCC patients with fumarate hydratase (FH) germline mutation confirmed by genetic diagnosis from 15 medical centers nationwide from January 2008 to December 2021 were retrospectively analyzed. Among them, 73 were male and 46 were female. The median age was 38(13, 74) years. The median tumor diameter was 6.5 (1.0, 20.5) cm. There were 38 cases (31.9%) in stage Ⅰ-Ⅱand 81 cases (68.1%) in stage Ⅲ-Ⅳ. In this group, only 11 of 119 HLRCC-RCC patients presented with skin smooth muscle tumors, and 44 of 46 female HLRCC-RCC patients had a history of uterine fibroids. The pathological characteristics, treatment methods, prognosis and survival of the patients were summarized.Results:A total of 86 patients underwent surgical treatment, including 70 cases of radical nephrectomy, 5 cases of partial nephrectomy, and 11 cases of reductive nephrectomy. The other 33 patients with newly diagnosed metastasis underwent renal puncture biopsy. The results of genetic testing showed that 94 patients had FH gene point mutation, 18 had FH gene insertion/deletion mutation, 4 had FH gene splicing mutation, 2 had FH gene large fragment deletion and 1 had FH gene copy number mutation. Immunohistochemical staining showed strong 2-succinocysteine (2-SC) positive and FH negative in 113 patients. A total of 102 patients received systematic treatment, including 44 newly diagnosed patients with metastasis and 58 patients with postoperative metastasis. Among them, 33 patients were treated with tyrosine kinase inhibitor (TKI) combined with immune checkpoint inhibitor (ICI), 8 patients were treated with bevacizumab combined with erlotinib, and 61 patients were treated with TKI monotherapy. Survival analysis showed that the median progression-free survival (PFS) of TKI combined with ICI was 18 (5, 38) months, and the median overall survival (OS) was not reached. The median PFS and OS were 12 (5, 14) months and 30 (10, 32) months in the bevacizumab combined with erlotinib treatment group, respectively. The median PFS and OS were 10 (3, 64) months and 44 (10, 74) months in the TKI monotherapy group, respectively. PFS ( P=0.009) and OS ( P=0.006) in TKI combined with ICI group were better than those in bevacizumab combined with erlotinib group. The median PFS ( P=0.003) and median OS ( P=0.028) in TKI combined with ICI group were better than those in TKI monotherapy group. Conclusions:HLRCC-RCC is rare but has a high degree of malignancy, poor prognosis and familial genetic characteristics. Immunohistochemical staining with strong positive 2-SC and negative FH can provide an important basis for clinical diagnosis. Genetic detection of FH gene germ line mutation can confirm the diagnosis. The preliminary study results confirmed that TKI combined with ICI had a good clinical effect, but it needs to be confirmed by the results of a large sample multi-center randomized controlled clinical study.

Objective:To analyze measurement results of serum allergen-specific immunoglobulin E (IgE) in patients with eczema/dermatitis.Methods:A retrospective analysis was conducted on serum allergen-specific immunoglobulin E (IgE) levels in 3 051 patients with eczema/dermatitis, who visited the allergy clinic of Huashan Hospital from April 1, 2021 to March 31, 2022. The serum allergen-specific IgE level was detected by using the Phadia allergen detection system, and positive rates of allergens were calculated to determine common inhaled allergens and food allergens in patients with eczema/dermatitis. Comparisons of enumeration data between groups were performed by chi-square test.Results:Among the 3 051 patients with eczema/dermatitis, there were 1 412 with atopic dermatitis and 1 639 were other eczema/dermatitis. Detection of serum allergen-specific IgE showed that 1 629 (53%) patients were positive for allergens, and the number of positive allergen-specific IgEs in each patient was 3.0 ± 1.6. The top 3 common inhaled allergens in patients with eczema/dermatitis were Dermatophagoides farinae (904/1 522, 59%) , Dermatophagoides pteronyssinus (891/1 513, 59%) and Alternaria alternata (206/1 068, 19%) , and the top 3 common food allergens were shrimps (251/1 432, 18%) , egg white (165/992, 17%) and cow milk (149/994, 15%) . Among the 3 051 patients, 25 (1%) were aged < 2 years, 571 (19%) aged 2 - 12 years, 285 (9%) aged 12 - 18 years, and 2 170 (71%) were aged > 18 years. The most common food allergens were both egg white in the age groups of < 2 years and 2 -12 years (77%, 37%, respectively) , and were both shrimps in the age groups of 12 - 18 years and > 18 years (31%, 17%, respectively) . Dermatophagoides pteronyssinus and Dermatophagoides farina were the top 2 common inhaled allergens in all age groups, with the positive rate ranging from 36% to 84%; in addition, the positive rate of molds was relatively high in the age group of 2 - 12 years (mold mixture: 37%; Alternaria alternata: 27%) . From April 2021 to March 2022, the positive rate of outdoor allergens ranged from 10% to 15% among outpatients in every month; the positive rates of tree pollen and grass pollen increased from April 2021, and peaked in October 2021. The patients with atopic dermatitis showed a significantly increased positive rate of allergens (73%) compared with those with other eczema/dermatitis (37%, χ2 = 389.36, P<0.001) , and the rank of common allergens in the patients with atopic dermatitis was basically the same as that in those with eczema/dermatitis. Conclusions:The common allergens were Dermatophagoides farina, Dermatophagoides pteronyssinus and Alternaria alternata in the patients with eczema/dermatitis. Food allergy was more common in infant patients, and inhalation allergy was more common in child, adolescent and adult patients. The positive rate of allergen-specific IgEs was markedly higher in the patients with atopic dermatitis than in those with other eczema/dermatitis.