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OBJECTIVES@#To investigate the clinical phenotype and genotype characteristics of children withcardiomyopathy (CM) associated with MYH7 gene mutation.@*METHODS@#A retrospective analysis was conducted on the medical data of five children with CM caused by MYH7 gene mutation who were diagnosed and treated in the Department of Cardiology, Hebei Children's Hospital.@*RESULTS@#Among the five children with CM, there were three girls and two boys, all of whom carried MYH7 gene mutation. Seven mutation sites were identified, among which five were not reported before. Among the five children, there were three children with hypertrophic cardiomyopathy, one child with dilated cardiomyopathy, and one child with noncompaction cardiomyopathy. The age ranged from 6 to 156 months at the initial diagnosis. At the initial diagnosis, two children had the manifestations of heart failure such as cough, shortness of breath, poor feeding, and cyanosis of lips, as well as delayed development; one child had palpitation, blackness, and syncope; one child had fever, runny nose, and abnormal liver function; all five children had a reduction in activity endurance. All five children received pharmacotherapy for improving cardiac function and survived after follow-up for 7-24 months.@*CONCLUSIONS@#The age of onset varies in children with CM caused by MYH7 gene mutation, and most children lack specific clinical manifestations at the initial diagnosis and may have the phenotype of hypertrophic cardiomyopathy, dilated cardiomyopathy or noncompaction cardiomyopathy. The children receiving early genetic diagnosis and pharmacological intervention result in a favorable short-term prognosis.
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Mâle , Femelle , Enfant , Humains , Études rétrospectives , Cardiomyopathie dilatée/génétique , Pedigree , Phénotype , Génotype , Mutation , Cardiomyopathie hypertrophique/diagnostic , Chaînes lourdes de myosine/génétique , Myosines cardiaques/génétiqueRésumé
Hypertrophic cardiomyopathy (HCM) is the most common monogenic inherited myocardial disease in children, and mutations in sarcomere genes (such as MYH7 and MYBPC3) are the most common genetic etiology of HCM, among which mutations in the MYH7 gene are the most common and account for 30%-50%. MYH7 gene mutations have the characteristics of being affected by environmental factors, coexisting with multiple genetic variations, and age-dependent penetrance, which leads to different or overlapping clinical phenotypes in children, including various cardiomyopathies and skeletal myopathies. At present, the pathogenesis, course, and prognosis of HCM caused by MYH7 gene mutations in children remain unclear. This article summarizes the possible pathogenesis, clinical phenotype, and treatment of HCM caused by MYH7 gene mutations, in order to facilitate the accurate prognostic evaluation and individualized management and treatment of the children with this disorder.
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Enfant , Humains , Cardiomyopathie hypertrophique/thérapie , Phénotype , Troponine T/génétique , Mutation , Protéines de transport/génétique , Chaînes lourdes de myosine/génétique , Myosines cardiaques/génétiqueRésumé
OBJECTIVES@#To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM).@*METHODS@#A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data.@*RESULTS@#Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05).@*CONCLUSIONS@#There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.
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Mâle , Femelle , Humains , Enfant , Débit systolique , Études rétrospectives , Fonction ventriculaire gauche , Phénotype , Cardiomyopathie dilatée/diagnostic , Mutation , ATPases associated with diverse cellular activities/génétique , Protéines membranaires/génétique , Protéines mitochondriales/génétiqueRésumé
Objective:To constructe an evaluation index system for clinical research innovation in medical institutions, for references for enhancing the research and innovation capabilities of medical institutions and formulating policies related to clinical research innovation.Methods:From March 2022 to May 2023, relevant literature and policies on the evaluation system of scientific and technological innovation at home and abroad were analyzed to establish the preliminary screening clinical research innovation indicators. Two rounds of Delphi method were used to construct a clinical research innovation index evaluation system, analytic hierarchy process was used to calculate the weights of each indicator.Results:The effective response rates of the two rounds of consultation questionnaires were both 100.00%, with expert authority coefficients of 0.95 and Kendall coordination coefficients of 0.85 and 0.87, respectively. The clinical research innovation index evaluation system ultimately established 4 primary indicators, 13 secondary indicators, and 42 tertiary indicators. The first level indicators included infrastructure construction, innovation support environment, clinical research activity, and innovation effectiveness, with weight coefficients of 18.00%, 21.00%, 30.00%, and 31.00%, respectively.Conclusions:The clinical research innovation evaluation index system constructed in this study covered the investment, environment, and output aspects of research innovation, and could comprehensively and objectively reflect the clinical research innovation ability of medical institutions.
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ObjectiveCentral nervous system (CNS) infiltration commonly occurs in children with acute lymphoblastic leukemia (ALL). Early subclinical CNS infiltration in pediatric ALL is hard to detect with conventional methods. This study aimed to investigate the changes of brain structure volume parameters based on Synthetic MRI (SyMRI) in pediatric ALL without clinically diagnosed CNS infiltration. MethodsThirty-six ALL and twenty-nine typically developing (TD) children were prospectively collected and all underwent SyMRI. The Synthetic MR software was used to obtain brain volumetric parameters including total white matter volume (WMV), gray matter volume (GMV), cerebrospinal fluid (CSF) volume, etc. and their within-group differences were assessed by analysis of covariance. The Spearman correlation analysis was used to examine the correlation between biological characteristics and statistically significant brain volume parameters. ResultsALL children showed increased CSF volume (PFDR-corrected = 0.009) and decreased GMV (PFDR-corrected = 0.027) when compared to TD children. We also found a moderately negative association between GMV/intracranial volume and risk classification in pediatric ALL (rs = -0.380, P = 0.022). ConclusionsPediatric ALL without clinically diagnosed CNS infiltration presented with accumulation of CSF and reduction of gray matter. The brain volumetric changes in subclinical CNS infiltration of pediatric ALL provides a new attempt for exploring the underlying mechanism and early detection of CNS infiltration in pediatric ALL.
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ObjectiveThe glymphatic system regulates cerebral spinal fluid and interstitial fluid transport which might be one of the pathways of central nervous system (CNS) leukemia at the early stage. This study aimed to investigate the alteration of glymphatic system based on diffusion tensor image-analysis along the perivascular space (DTI-ALPS) in pediatric acute lymphoblastic leukemia (ALL) without clinically diagnosed CNS infiltration. MethodsTwenty-five ALL and typically developing (TD) children were prospectively recruited, and all subjects underwent DTI. Group differences in brain water diffusivities and ALPS-index were evaluated using the analysis of covariance. The Spearman correlation analysis was used to evaluate the relationship between biological characteristics and significant parameters in pediatric ALL. ResultsCompared with TDs, decreased Dxassoc value (PFDR-corrected = 0.048) and increased Dzassoc value (PFDR-corrected = 0.033) were found in pediatric ALL. Hence, lower ALPS-index was found in children with ALL (PFDR-corrected < 0.001). ALPS-index was negatively associated with the risk classification (rs = -0.47, P = 0.018) as well as immunophenotype (rs = -0.40, P = 0.046) in pediatric ALL. ConclusionsOur results show dysfunction of the glymphatic system is presented in pediatric ALL without clinically diagnosed CNS infiltration, which suggests that the glymphatic system might be one of pathway in the early-stage of ALL CNS infiltration. The DTI-ALPS method can be used to evaluate the change of glymphatic system, providing a new method for exploring the underlying mechanisms and early detection of pediatric ALL CNS infiltration.
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Objective:To investigate the clinicopathologic characteristics, gene mutation profile and prognostic influencing factors of diffuse large B-cell lymphoma (DLBCL) complicated with follicular lymphoma (FL) (DLBCL/FL).Methods:The clinicopathological data of 50 DLBCL/FL patients admitted to Rui Jin Hospital Affiliated of Shanghai Jiao Tong University School of Medicine from February 2018 to November 2021 were retrospectively analyzed. Targeted sequencing was performed to assess the mutation profile of 55 lymphoma-related genes. The clinicopathological characteristics were summarized to evaluate the short-term therapeutic efficacy of all patients. Kaplan-Meier method was used to analyze the overall survival (OS) and progression-free survival (PFS) of patients. Cox regression risk models were used to assess the factors affecting the OS and PFS.Results:Among 50 DLBCL/FL patients, 23 cases (46%) were male, 22 cases (44%) had an international prognosis index (IPI) score ≥ 2 points, 16 cases (32%) were double-expression lymphoma (DEL) and 4 cases (8%) were double-hit lymphoma (DHL). The complete response (CR) and overall response rates were 68% (34/50) and 78% (39/50), respectively after the first-line therapy. The median follow-up time was 23.3 months (5.1-50.9 months). The 2-year OS rate was 82.1% and 2-year PFS rate was 67.1%; and the median OS and PFS were not reached. Targeted sequencing results showed that the mutation frequencies of KMT2D, MYD88, TP53, BTG2, DTX1, EZH2, CD70, CREBBP, DUSP2, HIST1H1C, HIST1H1E and PRDM1 genes in this cohort were more than 15%. Multivariate Cox regression analysis showed that male ( HR = 4.264, 95% CI 1.144-15.896, P = 0.031) and IPI score ≥ 2 points ( HR = 6.800, 95% CI 1.771-37.741, P = 0.007) were independent risk factors of PFS in newly diagnosed DLBCL/FL patients, and TP53 mutation ( HR = 4.992, 95% CI 1.027-24.258, P = 0.046) was an risk influencing factor of OS. Conclusions:The proportion of male and female DLBCL/FL patients is similar, with a small proportion of DHL. Mutations of KMT2D, MYD88 and TP53 genes are commonly found in DLBCL/FL patients. Generally, DLBCL/FL patients can have a high overall response and good prognosis. Male and IPI score ≥ 2 points are the independent risk factors of PFS, and TP53 mutation is an independent risk factor of OS in DLBCL/FL patients.
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@#Introduction: In Malaysia, the undiagnosed diabetes prevalence has increased. Socio-demographic characteristics and nutritional status play a crucial role in prediabetes development. Hence, this cross-sectional study aimed to identify the socio-demographic characteristics and nutritional status of adults at risk of T2DM in Kuala Nerus, Terengganu. Methods: A total of 30 participants at risk of T2DM aged 18 to 59 years old were recruited from Kuala Nerus using a convenience sampling method. Information on socio-demographic, anthropometric, fasting plasma glucose (FPG) level, clinical profile, Finnish Type 2 Diabetes Risk Assessment Tool (FINDRISC) score, dietary intake, and physical activity level were obtained. Results: The participants (mean age: 36.1 ± 8.7 years) were mostly female (76.7%), Malay (96.7%), married (43.3%), had a tertiary degree (60.0%), and were working (83.3%) with a monthly salary of less than RM 1000. Half of the participants were from the obese class I category. Their FPG level was 5.6 ± 0.5 mmol/L and half of them were classified as having optimal blood pressure. Also, they had a mean FINDRISC score of 6.3 ± 1.8. The participants consumed 2073 ± 247 kcal/day, which was comprised of 50.8% carbohydrate, 16.1% protein, and 33.1% fat. Most of them (63.3%) were minimally active. Conclusion: The participants had moderate T2DM risk with normal FPG level, blood pressure, and heart rate. They had excessive energy and fat intake with insufficient dietary fibre intake. It is vital to examine the socio-demographic characteristics and nutritional status, which can provide important information for planning future cost-effective T2DM preventive strategies.
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Objective The purpose of this study was to evaluate the predictive strength using the percentile of trans-isthmus conduction time during ablation of cavotricuspid isthmus(CTI)-independent typical atrial flutter for complete bidirectional conduction block.Methods This study was conducted with data from patients with typical atrial flutter(AF)who underwent ablation between February 2021 and February 2023(35 cases in the Beijing Anzhen Hospital,2 cases in the Children's Hospital of Hebei Province).Atrial flutter was induced during the operation,and linear ablation along the tricuspid valve ring to inferior vena cava was performed by anatomic ablation.The data collected were baseline clinical characteristics,Tachycardia Cycle Length(TCL),local conduction interval under coronary sinus pacing before ablation(P-ABL1),local conduction interval under coronary sinus pacing after ablation(P-ABL2).The percentage of P-ABL2 to TCL after ablation was calculated to evaluate the value of post-ablation local conduction interval percentage in the diagnosis of AF ablation endpoint,and its effectiveness was verified by the post-ablation activation sequence.Results All enrolled patients underwent ablation,and CTI was linearly blocked by parallel activation marker test.The TCL was(310.00±46.32)ms.The P-ABL1 was(92.16±27.65)ms and the P-ABL2 was(173.65±16.35)ms.Results significant difference between the two groups(P<0.001).The percentage of P-ABL2 to TCL was(0.81±0.12).The percentage is close to 1,which is higher for evaluating the specificity and effectiveness of CTI bidirectional block.Conclusions The ablation endpoint of CTI block can be predicted by using the P-ABL1 before surgery,combined with the percentage of local conduction time after ablation.
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Objective:To revise the family resilience assessment scale (FRAS) in patients with stroke and to evaluate its psychometric properties and applicability.Methods:FRAS was authorized and translated into Chinese.The scale items were revised based on the interview results of 13 patients with stroke and 11 caregivers and the opinions of 20 experts in related fields.A convenience sampling method was used to sample neurology and neurosurgery inpatients from 2 tertiary hospitals in Hangzhou twice from June to November 2022, with 325 questionnaires (sample 1) distributed the first time for item analysis and exploratory factor analysis, and 285 questionnaires (sample 2) distributed the second time for confirmatory factor analysis, criterion validity and reliability test.Data analysis was conducted by SPSS 26.0 and AMOS 24.0.Results:The exploratory factor analysis extracted 6 common factors(family beliefs, family spirit, family connection, family resources, family communication, family collaboration) with 32 items.Confirmatory factor analysis showed that the model fit well( χ2/ df=2.67, RMSEA=0.025, CFI=0.98, GFI=0.90, IFI=0.98, RMR=0.031). The cronbach's α coefficient of the total scale was 0.96, and 0.82-0.92 for the dimensions.The 2-week retest reliability was 0.99.The total scale score was positively correlated with the validity scale (family resilience scale) ( r=0.882, P<0.001). Conclusion:The family resilience scale for patients with stroke has good reliability and validity and can be used to assess the family resilience of patients with stroke.
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The clinical experience in treatment of somatalgia with "point-zone-strip stimulation technique" of acupuncture of professor ZHANG Wei-hua was summarized. Professor ZHANG integrates the theories of the cutaneous region of meridian, biaoben, "taking tender point as acupoint" and local holography as a whole in treatment of somatalgia. The "point-stimulation technique" of acupuncture (subcutaneous needling technique) is adopted for the painful site less than 3 cm in diameter, the "zone-stimulation technique" (surrounding needling technique) is for the site larger than 3 cm in diameter and the "strip-stimulation technique" (cubit-tibia needling technique) is for various acute and chronic somatalgia. These three needling techniques are applicable singly or in combination in clinical practice.
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Acupuncture , Points d'acupuncture , Thérapie par acupuncture/méthodes , Méridiens , PeauRésumé
Objective: To investigate the characteristics of non-alcoholic fatty liver disease (NAFLD) and its associated factors in rheumatoid arthritis (RA) patients. Methods: This cross-sectional study recruited 385 RA patients [including 72 (18.7%) male and 313 (81.3%) female] who received abdominal sonographic examination from August 2015 to May 2021 at Department of Rheumatology, Sun Yat-Sen Memorial Hospital. There were 28 RA patients at 16-29 years old and 32, 80, 121, 99, 25 at 30-39, 40-49, 50-59, 60-69, ≥ 70 years old, respectively. Demographic and clinical data were collected including age, gender, history of alcohol consumption, disease duration, body mass index (BMI), waist circumference, blood pressure, RA disease activity indicators and previous medications. Logistic regression analyses were used to identify the associated factors of NAFLD in RA patients. Results: The prevalence of NAFLD was 24.2% (93/385) in RA patients, 26.3% (21/80) in 40-49 age group and 33.1% (40/121) in 50-59 age group. There were 22.1% (85/385) and 3.6% (14/385) RA patients with overweight and obese, in which the prevalence of NAFLD was 45.9% (39/85) and 78.6% (11/14) respectively, which was 2.6 folds and 4.5 folds that of RA patients with normal BMI. Although there was no significant difference of age, gender and RA disease activity indicators between RA patients with or without NAFLD, those with NAFLD had higher proportions of metabolic diseases including obese (11.8% vs. 1.0%), central obesity (47.3% vs. 16.8%), hypertension (45.2% vs. 29.8%) and type 2 diabetes mellitus (24.7% vs. 12.0%), consistent with higher levels of total cholesterol [(5.33±1.31) mmol/L vs. (4.73±1.12) mmol/L], triglyceride [(1.51±1.08) mmol/L vs. (0.98±0.54) mmol/L] and low-density lipoprotein cholesterol [(3.37±0.97) mmol/L vs. (2.97±0.78) mmol/L, all P<0.05]. Multivariate logistic regression analysis showed that BMI (OR=1.314) and triglyceride (OR=1.809) were the independent factors positively associated with NAFLD in RA patients. Conclusion: NAFLD is a common comorbidity in RA patients, especially in those with middle-aged, overweight or obese, which is associated with high BMI or high triglyceride. Screening and management of NAFLD in RA patients especially those with overweight, obese or dyslipidemia should be emphasized.
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Adolescent , Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Polyarthrite rhumatoïde/épidémiologie , Cholestérol LDL , Études transversales , Stéatose hépatique non alcoolique/épidémiologie , Obésité/épidémiologie , Surpoids/épidémiologie , TriglycérideRésumé
To give full play to the therapeutic advantages of traditional Chinese medicine (TCM) in sepsis, clarify the entry point of integrated TCM and western medicine, further standardize the clinical treatment of TCM, develop a recognized and integrated treatment protocol of TCM and western medicine, and improve the clinical efficacy on sepsis,the Chinese Association of Chinese Medicine organized TCM and western medicine experts specialized in sepsis treatment to conduct in-depth discussions on the advantages of TCM and integrated TCM and western medicine in the treatment of sepsis based on the TCM etiology and pathogenesis of sepsis, a representative acute and critical disease. They emphasized the pathogenesis characteristics of asthenia of healthy Qi and sthenia of pathogenic factors and summarized the roles of Chinese medicine in correcting the imbalance of inflammatory response, improving blood coagulation dysfunction, and relieving organ damage. Furthermore, they proposed the treatment protocol with integrated TCM and western medicine, which is expected to provide references for actual clinical treatment and scientific research.
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In the systemic perspective, family is a system capable of self-organization, which possesses enough resources and ability to solve its own problems. To promote family health, the systemic therapists are required to consider each family member’s opinions and construction to certain problems, and assist them to discover and activate their own resources as well. Promoting family health also requires members to actively develop a sharing pattern within the family, exert the positive role of family rules, develop an authoritative parenting style so as to promote the mental health of children. Family members should ensure the clear and open boundaries between different subsystems, and maintain the stability of subsystem of the husband and wife especially. Furthermore, family members in different subsystems should make reasonable trade-offs and choices corresponding to different situations in order to both minimize conflicts and maintain the satisfying function of the family system. A healthy and ideal intimate relationship is interpreted from the systemic perspective of " evolvable, changeable, associative" on the core of " intimacy, passion and commitment" . The relationship will enhance partners' personal growth, in which the partners can not only examine its dynamic variations together but also deepen the understanding and acceptance of each other under the circumstances of bilateral original families and living environments. In addition, a healthy conjugal relationship has higher requirements such as " kinship" , commitment to two families of the couple and the children, and balancing the benefits between core family and original family.
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Hepatic stellate cells (HSCs) are non-parenchymal pericytes resided in liver. In chronic liver injury, the cells are activated from quiescent state into myofibroblasts, and then drive liver fibrosis. The process, activated HSCs secreting extracellular matrix, is crucial to liver fibrosis, which needs enormous energy and triggers the metabolic reprogramming including Warburg effect, degradation of lipid droplets with increasing lipid metabolism and the change of amino acid metabolism. This paper mainly reviews the glucose, lipid and protein metabolic reprogramming of HSCs during the development of liver fibrosis and its potential applications, controbuting to design novel targeted therapies against liver fibrosis.
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Sargassum fusiforme (S. fusiforme) has been used as an ingredient in Chinese herbal medicine for thousands of years. However, there are a limited number of studies concerning its therapeutic mechanism. High performance gel permeation chromatography (HPGPC) analysis showed that the average molecular weight of the S. fusiforme polysaccharide, SFPS 191212, is 43 kDa. SFPS 191212 is composed of mannose, rhamnose, galactose, xylose, glucose, and fucose (at a molar ratio: 2.1 : 2.9 : 1.8 : 15.5 : 4.6 : 62.5) with α- and β-configurations. The present research evaluated the anti-tumor potential of the S. fusiforme polysaccharide in human erythroleukemia (HEL) cells in vitro. To explore the SFPS 191212's apoptosis mechanism in HEL cells, transcriptome analysis was performed on HEL cells that were incubated with SFPS 191212. The inhibitory effect of SFPS 191212 on HEL cell growth was also analyzed. It was found that SFPS 191212 inhibited HEL cell proliferation, reduced cell viability in a concentration-dependent manner, and induced an insignificant toxic effect on normal human embryonic lung (MRC-5) cells. Compared with the control group, transcriptome analysis identified a total of 598 differentially expressed genes (DEGs), including 243 up-regulated genes and 355 down-regulated genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed on all DEGs, and 900 GO terms and 52 pathways were found to be significantly enriched. Finally, 23 DEGs were randomly selected and confirmed by quantitative real-time polymerase chain reaction (qRT-PCR). Moreover, SFPS 191212 down-regulated the PI3K/Akt signal transduction pathway. Our results provide a framework for understanding the effect of SFPS 191212 on cancer cells and can serve as a resource for delineating the anti-tumor mechanisms of S. fusiforme.
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Humains , Leucémie érythroblastique aigüe , Phosphatidylinositol 3-kinases , Polyosides/pharmacologie , Sargassum , TranscriptomeRésumé
The study aims to improve the level of fine management of medical equipments, give full play to the functions and roles for better patient service, and explore methods for evaluating the benefits of medical equipment that can take into account and reflect the needs of multiple parties. Based on objectives and key results(OKR) methods and concepts, a benefit evaluation system was developed with the goal of giving full play to the functions and roles of medical equipments, with corresponding evaluation indexes and supervision and evaluation mechanisms formulated as well. This index system could take into account the needs and concerns of hospitals, the departments in use, the management authorities and patients at large, while contributing to process supervision and continuous improvement. In the OKR practice of large medical equipments(CT, MR) from 2018 to 2019, they had performed significantly better in inspections, inspection positive coincident rates, clinical service capabilities, maintenance assurance levels, patient satisfaction, scientific research and academics among others. The use of a medical equipment benefit evaluation system based on OKR concepts and methods can provide effective evaluation indicators for the operation and management of medical equipments. In addition, the system can maintain internal improvement momentum leveraging process supervision and continuous improvement methods, in order to assure the elevation of fine management level of medical equipments of modern hospitals, thus offering better medical services for patients at large.
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Objective:To investigate the effect and mechanism of Fuzheng Touxie prescription (FZTX) on the immune homeostasis of drug-resistant <italic>Pseudomonas aeruginosa</italic> lung infection in rats at different time points. Method:A total of 168 rats were divided into a blank group (<italic>n</italic>=8),a model group (<italic>n</italic>=40),a Touxie (TX) group (<italic>n</italic>=40),an early Fuzheng (FZ) group (<italic>n</italic>=40), and a delayed FZ group (<italic>n</italic>=40). The blank group was given distilled water by gavage, the model group was given distilled water by gavage after infection,the TX group was given clear heat and penetrate evil drug free decoction granules(3.5 g·kg<sup>-1</sup>) by gavage after infection, the early FZ group was given Fuzheng Touxie whole formula free decoction granules(10.75 g·kg<sup>-1</sup>) by gavage after infection, the delayed FZ group was given clear heat and penetrate evil drug free decoction granules by gavage after infection, on the third day plus Fuzheng drug free decoction granules[(3.5+10.75) g·kg<sup>-1</sup>] by gavage, the three treatment groups were gavaged twice a day, 2 mL each time .Each drug treatment group was divided into five groups according to five time points (3 h,1 d,3 d,5 d, and 7 d), with eight rats in each group. The levels of tumor necrosis factor-<italic>α</italic>(TNF-<italic>α</italic>),high mobility group protein 1(HMGB1),interleukin-10(IL-10), and tumor necrosis factor -<italic>α</italic>-induced protein-8-like2 (TIPE2) were measured by enzyme-linked immunosorbent assay (ELISA), and HMGB1 protein expression level by Western blot. Result:At 3 h,the TNF-<italic>α</italic> content in the drug treatment groups was higher than that in the blank group and the model group (<italic>P</italic><0.05). At 3 d,the TNF-<italic>α</italic> content in the early FZ group and the delayed FZ group was lower than that in the model group (<italic>P</italic><0.05) and the TX group (<italic>P</italic><0.05). At 1 d,the HMGB1 content in the TX group and the delayed FZ group was higher than that in the model group (<italic>P</italic><0.05). At 5 d,the HMGB1 content was lower in the delayed FZ group than in the model group (<italic>P</italic><0.05). At 7 d,HMGB1 protein expression in the model group was higher than that in the blank group (<italic>P</italic><0.05) and the early FZ group (<italic>P</italic><0.05). At 3 d,the IL-10 content was significantly higher in both the early FZ group and the delayed FZ group than that in the model group (<italic>P</italic><0.05). At 5 d,the IL-10 content was higher in the early FZ group than that in the TX group (<italic>P</italic><0.05). At 7 d,the IL-10 content in the early FZ group and the delayed FZ group was lower than that in the TX group (<italic>P</italic><0.05). At 5 d,the TIPE2 content in the early FZ group was lower than that in the model group (<italic>P</italic><0.05). At 7 d,the TIPE2 content in the TX group and the delayed FZ group was lower than that in the model group (<italic>P</italic><0.05). Conclusion:FZTX or modified prescription can promote the inflammatory response to eliminate pathogenic bacteria in the early stage and suppress the inflammatory response in the late stage to avoid the inflammatory cascade effect and lung tissue damage,indicating that Fuzheng drugs have an important role in maintaining the immune homeostasis of the body after infection.
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OBJECTIVE@#To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.@*METHODS@#The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.@*CONCLUSION@#The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.
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Enfant , Femelle , Humains , Troubles du développement sexuel de sujets 46, XY/génétique , Troubles du développement sexuel/génétique , Exons/génétique , Dépistage génétique , Hétérozygote , Mutation , Facteur stéroïdogène-1/génétiqueRésumé
This study aimed to investigate the effects of Sargassum fusiforme polysaccharide (SFPS I, II, and III) on the apoptosis and regulation of human erythroleukemia (HEL) cells. The effect of different doses of SFPS on HEL cell growth was detected using the Cell Counting Kit-8 method, and apoptosis was detected by Hoechst staining. Cell cycle distribution and apoptosis were detected using flow cytometry. Expression of the cell cycle gene, p53, antiapoptotic genes, Bcl-xL and Bcl-2, and pro-apoptotic genes, Bax, Bad, and Caspase-3, as well as the expression of the corresponding proteins, were detected using real-time quantitative polymerase chain reaction (qPCR) and Western blot. The results showed that SFPS II and III decreased HEL cell viability and induced HEL cell apoptosis. Different concentrations of SFPS (I, II, and III) were detected that induced much less toxic effect in normal human embryonic lung (MRC-5) cells, and SFPS I increased cell proliferation, indicating its favorable selectivity towards cancer cells. The mechanism by which SFPS induced apoptosis was also found to be related to the induction of cell cycle arrest in the G/G phase and the increased expression of apoptosis-related genes and proteins. We concluded that SFPS induces HEL cell apoptosis, possibly via activation of the Caspase pathway, providing the theoretical basis for the development of SFPS-based anti-tumor drug products.