To analyze the disease group structure and its trends in key departments of large public hospitals using diagnosis related group (DRG) data, explore the key points of intervention and optimization of disease groups in departments, and further promote the rational allocation of department resources.

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.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an underdiagnosed genetic heart disease worldwide. The management and prognosis of obstructive HCM (HOCM) and non-obstructive HCM (HNCM) are quite different, but it also remains challenging to discriminate these two subtypes. HCM is characterized by dysmetabolism, and myocardial amino acid (AA) metabolism is robustly changed. The present study aimed to delineate plasma AA and derivatives profiles, and identify potential biomarkers for HCM. METHODS: Plasma samples from 166 participants, including 57 cases of HOCM, 52 cases of HNCM, and 57 normal controls (NCs), who first visited the International Cooperation Center for HCM, Xijing Hospital between December 2019 and September 2020, were collected and analyzed by high-performance liquid chromatography-mass spectrometry based on targeted AA metabolomics. Three separate classification algorithms, including random forest, support vector machine, and logistic regression, were applied for the identification of specific AA and derivatives compositions for HCM and the development of screening models to discriminate HCM from NC as well as HOCM from HNCM. RESULTS: The univariate analysis showed that the serine, glycine, proline, citrulline, glutamine, cystine, creatinine, cysteine, choline, and aminoadipic acid levels in the HCM group were significantly different from those in the NC group. Four AAs and derivatives (Panel A; proline, glycine, cysteine, and choline) were screened out by multiple feature selection algorithms for discriminating HCM patients from NCs. The receiver operating characteristic (ROC) analysis in Panel A yielded an area under the ROC curve (AUC) of 0.83 (0.75-0.91) in the training set and 0.79 (0.65-0.94) in the validation set. Moreover, among 10 AAs and derivatives (arginine, phenylalanine, tyrosine, proline, alanine, asparagine, creatine, tryptophan, ornithine, and choline) with statistical significance between HOCM and HNCM, 3 AAs (Panel B; arginine, proline, and ornithine) were selected to differentiate the two subgroups. The AUC values in the training and validation sets for Panel B were 0.83 (0.74-0.93) and 0.82 (0.66-0.98), respectively. CONCLUSIONS The plasma AA and derivatives profiles were distinct between the HCM and NC groups. Based on the differential profiles, the two established screening models have potential value in assisting HCM screening and identifying whether it is obstructive.
Humans ; Amino Acids ; Cysteine ; Cardiomyopathy, Hypertrophic/diagnosis* ; Biomarkers ; Proline ; Arginine ; Ornithine ; Glycine ; Choline

Objective:To analyze the clinical characteristics and treatment of patients with renovascular hypertension (RVH) caused by renal arterial fibromuscular dysplasia (FMD).Methods:Clinical data and treatment result of 38 patients with renal arterial FMD and RVH admitted to our hospital from Jan 2014 to Dec 2020 were reviewed.Results:A total of 38 patients were enrolled in this study. Renal artery CTA showed that 40 renal arteries were involved, among these 6 branches had multifocal stenosis, and 34 branches had focal stenosis. Thity-three patients received surgical treatment, of which 32 patients underwent percutaneous transluminal renal angioplasty (PTRA), and 1 patient with renal aneurysm underwent renal artery stent implantation combined with aneurysm coil embolization. Postoperative blood pressure was significantly lower than that before the operation [(129.79±17.63) mmHg vs. (178.52±28.63) mmHg, t=-11.42, P<0.001]. The mean follow-up time was 35.5 months. Renal artery restenosis occurred in 4 patients and underwent reintervention. Conclusion:For patients with renal arterial FMD and RVH, PTRA is safe and effective, especially for patients with focal lesions, with fair short and mid-term prognosis.

Objective To assess the association between early adiposity rebound (AR) and indices of obesity and metabolic risk in 5-year-old children. Methods Based on Ma’anshan Birth Cohort Study (MABC), single live births born in Ma'anshan of Anhui province from October 2013 to April 2015 were followed for up to 5 years consecutively. As of August 2019, 720 children with continuous measurements (≥8 times) and metabolic indicators were obtained. Physical examination and laboratory tests were used to obtain information on the birth status, length/height, weight, waist circumference, body composition and metabolic indicators of children. The 2 test, F test, t-test, non-parametric test, general linear model and logistic regression model were used for statistical analysis. Results 43.5% of the children had AR≤4 years. After controlling for gender, it was found that earlier AR was associated with overweight/obesity (OR=2.71, 95%CI: 1.81~4.05), larger waist circumference (OR=1.88, 95%CI: 1.25~2.82), and body fat percentage ≥90th percentile (OR=2.09, 95%CI: 1.26~3.48). In the earlier AR group, the insulin resistance and metabolic score were higher, but the difference was not statistically significant. At 5 years of age, the prevalence of obesity and overweight was 6.0% and 12.8%, respectively. Children with overweight/obesity, larger waist circumference, higher waist-to-weight ratio and body fat percentage ≥ 90th percentile were associated with higher insulin resistance and metabolic score, and all the differences were statistically significant (all P<0.001). Conclusion Earlier AR increased the risk of overweight/obesity, larger waist circumference, and body fat percentage ≥90th percentile at age of 5 years. Each index of the commonly used measures of childhood obesity was closely related with insulin resistance and metabolic risk factors at 5 years old.

Objective:To analyze the hepatic hemodynamics changes after partial splenic embolization in patients with cirrhosis and hypersplenism.Methods:A total of 26 patients with cirrhosis and hypersplenism who underwent partial splenic embolization in the General Hospital of Ningxia Medical University from April 2018 to June 2019 were included in this study. The clinical data was retrospectively studied. The study objects consisted of 19 males and 7 females with an average of 55 years. Whole-liver perfusion enhanced CT imaging scan was performed for all patients. Changes in laboratory indexes and the blood perfusion of the liver sections including hepatic arterial perfusion, portal venous perfusion, total liver perfusion and hepatic arterial perfusion indexes before PSE and postoperative 1 month were compared.Results:The postoperative leukocyte and platelet counts increased, and the prothrombin time decreased in the 26 patient, and the differences were significant ( P<0.05). The hepatic arterial perfusion of the left lateral section, left medial section, right anterior section and right posterior section increased in postoperative 1 month, from 10.0 (7.0, 13.5) ml·min -1·(100 ml) -1, 9.3 (5.4, 12.8) ml·min -1·(100 ml) -1, 8.0 (6.0, 11.2) ml·min -1·(100 ml) -1, 10.7 (7.1, 13.8) ml·min -1·(100 ml) -1 to 7.7 (4.2, 11.0) ml·min -1·(100 ml) -1, 6.9 (2.6, 10.2) ml·min -1·(100 ml) -1, 7.1 (4.1, 8.7) ml·min -1·(100 ml) -1, 5.9 (4.4, 8.5) ml·min -1·(100 ml) -1, respectively. The differences were all significantly different ( P<0.05). There were no significant difference in portal venous perfusion and total liver perfusion before and after operation ( P>0.05). The hepatic arterial perfusion index of left lateral section, right anterior section and right posterior section increased after operation ( P<0.05). Conclusion:For patients with cirrhosis and hypersplenism who underwent partial splenic embolization, the state of hypersplenism was relieved, the hepatic arterial blood flow increased, and the liver function improved.

Objective: To evaluate the value of preoperative diagnosis of extramural vascular invasion (EMVI) of rectal cancer with 3.0T high-resolution magnetic resonance imaging (MRI) and the MRI-related factors of EMVI in rectal cancer. Methods: The clinical and imaging data of 40 patients with rectal cancer were retrospectively analyzed. The postoperative pathological diagnosis was used as the gold standard to evaluate the diagnostic efficacy of preoperative diagnosis of EMVI of rectal cancer by high-resolution MRI, and to analyze the relationship between the EMVI and clinical and MRI features. Results: Of the 40 patients, 19 cases were diagnosed as positive EMVI and 21 were negative by MRI. Pathological diagnosis of EMVI was positive in 10 cases and negative in 30 cases. The sensitivity, specificity and accuracy of MRI in the diagnosis of EMVI were 100%, 70.0% and 77.5%, respectively. Preoperative MRI and postoperative pathology were moderately consistent in the diagnosis of EMVI in rectal cancer (Kappa=0.538, P<0.001). Pathological EMVI positivity were related to tumor size under MRI examination (P=0.028), degree of differentiation (P<0.001), depth of invasion (P=0.002), lymph node metastasis (P=0.001), liver metastasis (P=0.011), tumor apparent diffusion coefficient (ADC) value (P=0.010) and exponential apparent diffusion coefficient (eADC) value (P=0.003). It also related to extramural nerve invasion by pathological examination (P=0.005). Conclusion According to the EMVI imaging score of rectal cancer, preoperative MRI has a high value in the diagnosis of EMVI of rectal cancer.

Objective To evaluate the characteristics of left ventricular structure ,function ,myocardial mechanics ,hemodynamics and synchrony in different phenotypes of hypertrophic cardiomyopathy ( HCM ) using state‐of‐the‐art echocardiography . Methods A consecutive series of 85 adult HCM patients w ho were admitted to the Xi Jing HCM center from January 2016 to November 2017 were collected . According to the peak left ventricular outflow tract pressure gradient in exercise stress echocardiography ,the patients were divided into three groups :patients with non‐obstructive HCM ( n ＝28) ,those with labile‐obstructive HCM ( n ＝27) ,and those with obstructive HCM ( n ＝ 30 ) . In addition ,16 normal family members of HCM patients were included as control group . T wo‐dimensional speckle tracking imaging ,tissue Doppler imaging and exercise stress echocardiography were used to evaluate the left ventricular function in resting and exercise states . Results ① As compared with the control group ,left ventricular end‐diastolic diameter decreased and left ventricular ejection fraction increased in all three HCM groups ( all P ＜ 0 .05 ) . Left ventricular maximum wall thickness and left ventricular mass index were the highest in obstructive HCM , followed by labile‐obstructive and non‐obstructive HCM ,and the lowest in the control group ( all P ＜0 .05) . ②A t rest ,the left ventricular global longitudinal ,circumferential and radial strain ( GLS ,GCS and GRS) ,as well as the twist of obstructive HCM were significantly lower than the other three groups ( all P ＜0 .05) . As compared with the control group ,the GLS and twist decreased in the labile‐obstructive and non‐obstructive HCM ( all P ＜0 .05 ) ,but there were no significant changes of GCS and GRS ( all P ＞ 0 .05 ) . T he obstructive HCM had the lowest mitral annular plane systolic excursion ( M APSE ) and s′,and the longest systolic peaking time standard deviation( T s‐SD) and early diastolic peaking time standard deviation ( Te‐SD) ( all P ＜0 .05) . T he left ventricular diastolic function of obstructive HCM ( e′,the E/e′ratio and the left atrial volume index ) was the worst ,labile‐obstruction and non‐obstructive HCM were better ,and the control group was the best ( all P ＜ 0 .001 ) . ③ During exercise ,the GLS ,GCS ,GRS ,twist of the left ventricle and the M APSE were the lowest in the obstructive HCM ,which increased in the labile‐obstructive and non‐obstructive HCM ,and were best in the control group . T he T s‐SD and Te‐SD were the shortest in the control group ,were prolonged in non‐obstructive and labile‐obstruction HCM ,and were longest in obstructive HCM ( all P ＜ 0 .05 ) . Additionally ,the exercise time of the control group was the longest , followed by non‐obstructive and labile‐obstruction HCM ,and the shortest in the obstructive HCM ( all P ＜0 .05) . T he M ET s of obstructive HCM were significantly lower than the other three groups ( all P ＜0 .05) . Conclusions In obstructive HCM ,the left ventricular systolic strain and synchronization ,as well as the M APSE ,are significantly impaired in patients both at rest and during exercise . T he patients with labile‐obstructive and non‐obstructive HCM have reduced left ventricular GLS , twist ,and e′,but normal left ventricular GCS ,GRS ,synchrony ,and M APSE at rest ,which are all impaired during exercise .

Objective: To evaluate the characteristics of left ventricular structure, function, myocardial mechanics, hemodynamics and synchrony in different phenotypes of hypertrophic cardiomyopathy (HCM) using state-of-the-art echocardiography. Methods: A consecutive series of 85 adult HCM patients who were admitted to the Xi Jing HCM center from January 2016 to November 2017 were collected. According to the peak left ventricular outflow tract pressure gradient in exercise stress echocardiography, the patients were divided into three groups: patients with non-obstructive HCM (n=28), those with labile-obstructive HCM (n=27), and those with obstructive HCM (n=30). In addition, 16 normal family members of HCM patients were included as control group. Two-dimensional speckle tracking imaging, tissue Doppler imaging and exercise stress echocardiography were used to evaluate the left ventricular function in resting and exercise states. Results: ①As compared with the control group, left ventricular end-diastolic diameter decreased and left ventricular ejection fraction increased in all three HCM groups(all P<0.05). Left ventricular maximum wall thickness and left ventricular mass index were the highest in obstructive HCM, followed by labile-obstructive and non-obstructive HCM, and the lowest in the control group (all P<0.05). ②At rest, the left ventricular global longitudinal, circumferential and radial strain (GLS, GCS and GRS), as well as the twist of obstructive HCM were significantly lower than the other three groups (all P<0.05). As compared with the control group, the GLS and twist decreased in the labile-obstructive and non-obstructive HCM(all P<0.05), but there were no significant changes of GCS and GRS (all P>0.05). The obstructive HCM had the lowest mitral annular plane systolic excursion (MAPSE) and s′, and the longest systolic peaking time standard deviation(Ts-SD) and early diastolic peaking time standard deviation(Te-SD) (all P<0.05). The left ventricular diastolic function of obstructive HCM (e′, the E/e′ ratio and the left atrial volume index) was the worst, labile-obstruction and non-obstructive HCM were better, and the control group was the best (all P<0.001). ③During exercise, the GLS, GCS, GRS, twist of the left ventricle and the MAPSE were the lowest in the obstructive HCM, which increased in the labile-obstructive and non-obstructive HCM, and were best in the control group. The Ts-SD and Te-SD were the shortest in the control group, were prolonged in non-obstructive and labile-obstruction HCM, and were longest in obstructive HCM (all P<0.05). Additionally, the exercise time of the control group was the longest, followed by non-obstructive and labile-obstruction HCM, and the shortest in the obstructive HCM (all P<0.05). The METs of obstructive HCM were significantly lower than the other three groups (all P<0.05). Conclusions In obstructive HCM, the left ventricular systolic strain and synchronization, as well as the MAPSE, are significantly impaired in patients both at rest and during exercise. The patients with labile-obstructive and non-obstructive HCM have reduced left ventricular GLS, twist, and e′, but normal left ventricular GCS, GRS, synchrony, and MAPSE at rest, which are all impaired during exercise.

Objective To analyze the clinical characteristics of complete transposition of great arterial with left ventricular outflow tract obstruction(TGA/LVOTO) patients who received arterial switch operation(ASO),and further evaluated the risk factors of postoperative adverse events.Methods Retrospectively evaluated the adverse events(including postoperative mortality,reoperation,aortic valve insufficiency,re-LVOTO and mitral valve insufficiency) and the related risk factors of 39 TGA/LVOTO patients after ASO.Results 39 TGA/LVOTO patients were included,the mean Z value of PV was 0.6,the mean peak LVOT gradient was 31.6 mmHg (1 mmHg =0.133 kPa).The mean follow up time was 15.9 months,during the follow up,1 patient had early mortality,and CPB time(P =0.034) was associated with early mortality;4 patients had early reintervention;15 patients had AVI,and larger PV Z value(P =0.026) was associated with postoperative AVI;7 patients had MVI,and subvalvar level LVOTO(P =0.001) was associated postoperative MVI;6 patients had re-LVOTO,and older age at operation (P =0.029),muhi-level LVOTO (P =0.024) were associated with postoperative re-LVOTO.Conclusion If the obstruction of LVOT can be repaired by surgery,TGA/LVOTO patients had a satisfied prognosis after ASO with relief of LVOTO,the postoperative early mortality was very low,and although the probability of re-LVOTO was increased with time,the long-term reintervention probability was very low.