Objective:To apply cardiovascular magnetic resonance (CMR) to quantitatively evaluate the morphology and tissue characteristics of thoracic skeletal muscle (TSM) in patients with Danon disease and hypertrophic cardiomyopathy (HCM), in order to provide auxiliary differential diagnostic information.Methods:A retrospective study was conducted on 15 Danon disease patients (Danon disease group) who completed CMR examination, and 15 HCM patients (HCM group) and 15 healthy volunteers (control group) who were matched by gender and age were compared. TSM (pectoralis major, pectoralis minor, erector spinae, and subscapularis) area index (TSMAi), T1 relaxation time of four groups, and extracellular volume (ECV) of skeletal muscles of two groups (pectoralis major and subscapularis) were measured for all subjects. Single factor analysis of variance and KruskalWallis test were used to compare three sets of values.Results:The total TSMAi of the Danon disease group was lower than that of the HCM group and the control group [(15.37±3.28)cm 2/m 2 vs (23.02±3.88)cm 2/m 2 vs (22.33±4.67)cm 2/m 2, P<0.001], and the TSMAi of each TSM was also lower than that of the HCM group and the control group (all P<0.05). There was no statistically significant difference in TSMAi between the HCM group and the control group (all P>0.05). The native T1 values of the pectoralis major muscle in the Danon disease group and HCM group were higher than those in the control group (all P<0.05). The ECV of the pectoralis major muscle and subscapularis muscle in the Danon disease group were higher than those in the HCM group and control group, and the enhanced T1 values were lower than those in the HCM group and control group (all P<0.05); There was no statistically significant difference in ECV and the enhanced T1 values between the HCM group and the control group ( P>0.05). Conclusions:The application of CMR can effectively evaluate the changes in TSM morphology and tissue characteristics in Danon disease patients. Compared with HCM patients, Danon disease patients showed significant atrophy of TSM with increased extracellular volume. CMR provides a quantitative reference for TSM in the differential diagnosis of the two.

Objective:To investigate the hemodynamic changes in the ascending aorta (AAo) before and after interventricular septal myocardial resection in obstructive hypertrophic cardiomyopathy (HOCM) using cardiac magnetic resonance four-dimensional blood flow (CMR 4D Flow) technology.Methods:HOCM patients who underwent interventricular septal myocardial resection at Guangdong Provincial People′s Hospital from May 2021 to September 2022 were prospectively included. Age and gender matched healthy volunteers (control group) were included during the same period. Both the control group and HOCM patients underwent CMR examination (including cine sequence and 4D Flow sequence) before and 6 months after surgery. CMR 4D flow technology was used to evaluate changes in AAo preoperative and postoperative blood flow patterns (eddy currents, spiral flow), maximum energy loss (EL max), and average energy loss (EL avg). HOCM patients underwent laboratory tests, including N-terminal pro-brain natriuretic peptide (N-pro BNP) and high-sensitivity troponin T (hsTnT). At the same time, the correlation between postoperative energy loss in HOCM patients and the degree of improvement in laboratory biomarkers was explored. Results:A total of 15 HOCM patients and 15 healthy volunteers were included. (1) In terms of blood flow patterns, the preoperative spiral flow degree of HOCM patients was significantly higher than that of the control group ( P=0.001), but the postoperative difference was not statistically significant ( P=0.059). The degree of eddy currents in HOCM patients before and after surgery was higher than that in the control group (all P<0.05). (2) In terms of energy loss, the preoperative EL max [21.17(14.30-28.10)mW vs 10.17(7.66-13.07)mW, P<0.001] and EL avg [4.87(3.46-5.77)mW vs 2.27(2.19-2.27)mW, P=0.023] of HOCM patients were higher than those of the control group, but there was no statistically significant difference between the postoperative and control groups (all P>0.05). Compared with preoperative, the postoperative EL max [12.33(8.70-17.41)mW] and EL avg [3.10(2.25-4.40)mW] of AAo in HOCM patients were significantly reduced (mean P=0.001). (3) Correlation analysis showed that there was a positive correlation ( r=0.587, P=0.021) between the EL max of AAo and the degree of improvement in hsTNT after interventricular septum myocardial resection, but no significant correlation ( r=0.229, P=0.413) with the degree of improvement in NT-pro BNP. Conclusions:The degree of postoperative AAo blood flow disorder in HOCM patients is reduced, and EL max and EL avg are significantly reduced. The EL max of postoperative AAo is positively correlated with the degree of improvement in hsTNT, suggesting that EL max may be applicable for prognostic evaluation of patients.

To analyze the methodological and reporting quality of systematic reviews of prediction models published in Chinese journals, with the aim of providing reference for enhancing the overall quality of Chinese systematic reviews of prediction models.

Medical insurance payment model is transforming from project-based purchases to service bundle-based strategic purchases. The new form of bundled purchases should found on a scientifically-led design process of such bundles. The core to bundled purchase would be the payment standard, and the key to its success would be process control. Establishment of such a foundation, a core, and a key, would promote the current price standards, and lead service providers to a standardized medical service standard, so as to ensure a precise rewarding system of payment and service. The big data diagnosis-intervention packet(DIP)is able to fulfill mentioned ambitions by integrating insurance payment and supervision into one management. DIP is a full-process payment mode that encompasses pre-service estimation, in-service process control, post-service grading, and resource allocation. It is an innovative practice in line with China′s national conditions for the modern governance of medical security and medical services.

Objective:To explore the price formation method and price standard in the big data diagnosis-intervention packet.Methods:The expenditure data and income data of 95 medical institutions in Shanghai in 2018 were used for analysis, including 33 municipal hospitals and 62 district hospitals. After using the standardized data of disease score, the medical institutions in the region were divided into four quadrants with the regional average of unit price per index and cost per index as the coordinate axis. The best quadrant of income and cost was found out, namely the high quality range. The geometric center was calculated in the high quality range, and the unit price per index of the geometric center was taken as the cost standard.Results:For the district hospitals, there were 20 hospitals in the first quadrant, 8 in the second quadrant, 24 in the third quadrant and 10 in the fourth quadrant; For the municipal hospitals, there were 7 hospitals in the first quadrant, 5 in the second quadrant, 12 in the third quadrant and 9 in the fourth quadrant. In the third quadrant, the average income and cost of medical institutions were lower than the average of the city, and the income could cover the cost. The third quadrant was the high quality range. The unit price per index of the third quadrant geometric center of district hospitals was 14 115.4 yuan, and that in municipal hospitals was 15 559.1 yuan, which could be used as the corresponding cost standard.Conclusions:The price discovery mechanism based on objective data and high-quality interval geometric center method can remove the impact of unreasonable charges or unreasonable behavior on medical income, and reflect the guidance of the standard price of medical insurance payment.

The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.
Anodontia/genetics* ; Humans ; MSX1 Transcription Factor/genetics* ; Pedigree ; Whole Exome Sequencing

Objective: To investigate the clinical features and pathogenic genes of a family with osteosclerosis. Methods: Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL. Results: Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein. Conclusion The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.

OBJECTIVE： To study the efficacy and economics of cefoperazone/sulbactam combined with moxifloxacin and amikacin versus cefoperazone/sulbactam combined with tigecycline in the treatment of pneumonia with multidrug-resistant Acinetobacter baumannii （MDRAB）. METHODS： By prospective study， 150 MDRAB pneumonia patients were selected from Jingmen Second People’s Hospital during Jan. 1st， 2016-Aug. 31st， 2019， and then randomly divided into control group and observation group， with 75 cases in each group. Control group was given Cefoperazone/sulbactam sodium for injection （3 g， q8 h， ivgtt） combined with Tigecycline for injection （first dose 100 mg， maintenance dose 50 mg， q12 h， ivgtt）. Observation group  was give Cefoperazone/sulbactam sodium for injection （3 g， q8 h， ivgtt） combined with Moxifloxacin hydrochloride and sodium chloride injection （400 mg， qd， ivgtt） and Amikacin sulfate injection （0.6 g， qd， ivgtt）. The treatment lasted for 14 days in both groups. The time for body temperature to return to normal， lung rales disappearance， WBC to return to normal and PCT to return to normal， clinical efficacy， bacterial clearance rate and the occurrence of ADR were compared between 2 groups. Cost-effectiveness analysis was used to evaluate the cost- effectiveness ratio （C/E） and incremental cost-effectiveness ratio （ΔC/ΔE） of 2 groups using antibiotics cost as cost. Sensitivity analysis was performed by reducing drug cost by 15％. RESULTS： There was no statistical significance in the time for body temperature to return to normal， lung rales disappearance， WBC to return to normal and PCT to return to normal between control group and observation group （P＞0.05）. Clinical response rates of 2 groups were 85.33％ and 81.33％， and bacterial clearance rate were 89.33％ and 82.67％， with statistical significance （P＞0.05）. No serious ADR occurred in either group. The antibacterial cost of control group and observation group were 32 371.49 yuan/person and 9 367.82 yuan/person. C/E of clinical response rate were 379.37 and 115.18， and C/E of bacterial clearance rate were 362.38 and 113.32 in 2 groups， respectively. ΔC/ΔE of clinical response rate and bacterial clearance rate between control group and observation group were 5 750.92 and 3 454.00. Sensitivity analysis supported cost-effectiveness analysis results. CONCLUSIONS： Cefoperazone/sulbactam combined with moxifloxacin and amikacin versus cefoperazone/sulbactam combined with tigecycline in the treatment of pneumonia with MDRAB has similar efficacy， but cefoperazone/sulbactam combined with moxifloxacin and amikacin has economic and social benefits.

Brown adipose tissue (BAT) increases energy consumption by directly dissipating stored energy in the form of heat through the role of uncoupling protein (UCP1). Recent studies have found that brown adipocytes may also regulate metabolism through autocrine, paracrine, and endocrine mechanisms. A growing body of evidences have shown that the BAT has a close relationship with bone metabolism, in which BAT secretes a variety of factors to regulate bone metabolism, while bone also secretes a variety of bioactive substances to control BAT function. In addition, BAT may indirectly participate in bone metabolism through muscle-mediated regulation or SNS activity and improvement of body metabolism, thus forming a BAT-skeletal axis. In this paper, we try to explain the relationship between brown adipose tissue and bone, and to discuss their interactive mechanisms.

Objective: To explore the short-term effects of communicated activities regarding the China Healthy Lifestyle for All workshop held during September 2018. Method: "National action for three reductions and three health activities" and related content ( "salt reduction," "oil reduction," "sugar reduction," "oral health," "healthy bones," and "healthy weight" ) were used as keywords. Starting September 1, thematic publicity topics were launched and implemented throughout the month. The National Action Office issued promotional materials one day in advance through the WeChat Work Group known as the health promotion network in the mainland, which had been developed by members from different provinces, cities, and counties, to disseminate the materials for use both offline and online. Using search engines such as Baidu search and Sogou search, a third-party professional evaluation agency intelligently captured relevant information and texts from various organizations (including provinces, cities, and countries). The information was gathered and sorted according to different channels and forms; thereby, a database was formed for analysis. The content analysis method was used to quantitatively analyze the change trend of the release volume of related reports, and classified statistics were conducted according to different communication channels and forms. Baidu index, WeChat interactive volume, WeChat index, and Weibo hit times were used for evaluation. Researchers analyzed the difference of release volumes in different provinces (municipalities directly under the central government and autonomous regions), as well as in eastern and central regions. Results: The daily communication trend increased significantly after September, with 42 176 reports on related topics, peaking on September 3 (2 703 reports in a single day); effects of the topic establishment and publicity were shown during the entire month. The Badu index showed the same tendency. The keywords "three reductions," "three health," "all-people action," "oil reduction," "sugar reduction," "salt reduction," "oral health," "healthy bones," and "healthy weight" had become high-frequency words. From the perspective of communication channels, there were 17 576, 11 453, and 8 034 reports by WeChat, the news, and Weibo, respectively, accounting for 41.76%, 27.16%, and 19.05% of the total; these report rates were obviously higher than those of other communication channels. WeChat’s interactions reached 4 064 699, and the WeChat index rose to a peak of 858 275 on September 1, which was 194.44 times higher than on August 10 (before the promotional month); additionally, the number of micro-blogging hits reached 130 907 879. Regarding the form of presentation, in descending order, the most frequent type was graphics, followed by star propaganda, radio drama, and health super material. In addition, the gap between the top five provinces ranked by each channel was large. The number of daily releases varied significantly among provinces (municipalities and autonomous regions), with Beijing taking the top spot with 81 articles, while the western provinces of Xinjiang, Ningxia Hui Autonomous Region, Qinghai Province, and Tibet had relatively low daily releases. Even the gap of rank among the top five in WeChat, news, and individual micro-blogs were larger: Beijing, Shandong Province, and Zhejiang Province were the country’s top three regions in WeChat publishing volume. The communication effect in the eastern, central, and western regions was considerably different, with the eastern region clearly responding better than the other two regions, and the western region had insufficient propaganda capacity as a whole. Conclusion The communication effect of the China Healthy Lifestyle for All month activities in 2018 was quite effective, but the gap in communication effect by provinces was large.