OBJECTIVE: To analyze the MYH9 gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between MYH9 gene and tumors. METHODS: Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The MYH9 gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing. RESULTS: The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the MYH9 gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag. CONCLUSION A novel mutation of MYH9 was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the MYH9 gene and tumors, suggesting that the MYH9 gene may be associated with the development of diffuse large B-cell lymphoma.
Humans ; Myosin Heavy Chains/genetics* ; Thrombocytopenia/genetics* ; Mutation ; Male ; Lymphoma, Non-Hodgkin/genetics* ; Lymphoma, Large B-Cell, Diffuse/genetics* ; Molecular Motor Proteins/genetics* ; Pedigree

Objective:To analyze the correlation between serum calcium levels and the prognosis of survival and renal recovery in patients with acute kidney injury (AKI) accompanied by hypercalcemia.Methods:This retrospective study analyzed the clinical data of patients with AKI accompanied by hypercalcemia admitted to Shanghai General Hospital from December 2015 to August 2022. There were 157 patients included in the study. The observation endpoint was set at discharge, focusing on the patients' survival and renal recovery during this period. Based on their status at discharge, patients were divided into a survival group (116 cases) and a death group (41 cases); and among the survivors, into a renal recovery group (63 cases) and a non-recovery group (53 cases). Continuous variables conforming to normal distribution were expressed as xˉ± s, and the mean comparison between the two groups was performed using an independent sample t-test. Continuous variables not conforming to normal distribution were represented by median (interquartile range) and compared between groups using the Mann-Whitney U test. Categorical variables were expressed as frequency (percentage), and comparisons were made using the chi-squared (χ 2) test or Fisher's exact test, as applicable. The correlation between serum calcium levels and patient outcomes was analyzed using univariate and multivariate Logistic regression. Results:The average age of the study subjects was (68.37±16.28) years, with 97 males (61.78%). The ages in the survival and death groups were (65.39±16.13) years and (76.80±13.67) years, respectively, with 66 males in the survival group and 31 in the death group. The history of malignancy (excluding multiple myeloma) was 37 cases and 23 cases, respectively, and serum albumin levels were (35.41±6.84) g/L and (30.82±5.75) g/L, respectively. Significant Statistical differences were observed in age, gender, history of malignancy (excluding multiple myeloma), and serum albumin were found between the survival and death groups (statistical values: t=4.04, χ 2=4.49, χ 2=7.51, t=3.85; all P<0.05). AIK 1 stage were 33.33%(21/63) and 64.15%(34/53), 2 stage were 36.51%(23/63) and 24.53%(13/34), 3 stage were 30.16%(23/63) and 11.32%(6/34) in the renal recovery and non-recovery groupsrespectively. Serum calcium at discharge in the renal recovery and non-recovery groups were (2.50±0.38) mmol/L and (2.70±0.58) mmol/L, respectively, with mean serum calcium levels of (2.60±0.29) mmol/L and (2.78±0.39) mmol/L, and lowest serum calcium levels of (2.28±0.36) mmol/L and (2.50±0.51) mmol/L, respectively. BNP levels were 118 (64, 283) ng/L and 248 (69, 1 383) ng/L, respectively. Significant differences in AKI stage, serum calcium at discharge, mean serum calcium, lowest serum calcium, and BNP were observed between the two groups (statistical values: χ 2=11.84, t=2.26, t=2.75, t=2.73, U=2.62, all P<0.05). Multivariate logistic regression analysis showed that age ( OR=1.062, 95% CI 1.027-1.098, P<0.001), history of malignancy (excluding multiple myeloma) ( OR=3.811, 95% CI 1.623-8.951, P=0.002), and serum albumin ( OR=0.889, 95% CI 0.829-0.953, P=0.001) were independent risk factors for in-hospital mortality of patients; severity of AKI(AKI2 OR=2.984, 95% CI 1.281-6.954, P=0.011, AKI3 OR=5.280, 95% CI 1.863-14.963, P=0.002) and serum calcium level at discharge ( OR=0.813, 95% CI 0.666-0.992, P=0.041) were independent risk factors affecting early renal recovery of patients. Conclusion:Serum calcium level is not associated with the risk of in-hospital mortality in patients with AKI accompanied by hypercalcemia but is related to the prognosis of early renal recovery. Proactively managing serum calcium, along with treatment of the primary malignancy and correction of hypoalbuminemia can help improve the prognosis of these patients.

Objective:The transjugular or transfemoral approach is used as a common method for hepatic venous pressure gradient (HVPG) measurement in current practice. This study aims to confirm the safety and effectiveness of measuring HVPG via the forearm venous approach.Methods:Prospective recruitment was conducted for patients with cirrhosis who underwent HVPG measurement via the forearm venous approach at six hospitals in China and Japan from September 2020 to December 2020. Patients' clinical baseline information and HVPG measurement data were collected. The right median cubital vein or basilic vein approach for all enrolled patients was selected. The HVPG standard process was used to measure pressure. Research data were analyzed using SPSS 22.0 statistical software. Quantitative data were used to represent medians (interquartile ranges), while qualitative data were used to represent frequency and rates. The correlation between two sets of data was analyzed using Pearson correlation analysis.Results:A total of 43 cases were enrolled in this study. Of these, 41 (95.3%) successfully underwent HVPG measurement via the forearm venous approach. None of the patients had any serious complications. The median operation time for HVPG detection via forearm vein was 18.0 minutes (12.3~38.8 minutes). This study confirmed that HVPG was positively closely related to Child-Pugh score ( r = 0.47, P = 0.002), albumin-bilirubin score ( r = 0.37, P = 0.001), Lok index ( r = 0.36, P = 0.02), liver stiffness ( r = 0.58, P = 0.01), and spleen stiffness ( r = 0.77, P = 0.01), while negatively correlated with albumin ( r = -0.42, P = 0.006). Conclusion:The results of this multi-centre retrospective study suggest that HVPG measurement via the forearm venous approach is safe and feasible.

Objective:To investigate the impact of early removal of nasogastric tubes on functional recovery after total gastrectomy for gastric cancer patients, to provide scientific evidence for enhanced recovery after surgery strategies in gastric cancer.Methods:A retrospective cohort study was conducted on 102 gastric cancer patients who underwent total gastrectomy at Beijing Friendship Hospital affiliated with the Capital Medical University from March 2018 to July 2022. Patients were divided into two groups based on whether the gastric tube was removed within 24 hours post-operation: the early removal group (within 24 hours, 55 patients) and the non-early removal group (beyond 24 hours, 47 patients). The recovery outcomes, including time to first flatus, time to fluid intake, length of hospital stay, and the incidence of postoperative complications, were compared between the two groups. Non-normally distributed data were expressed as M( Q1, Q3) and compared using the Wilcoxon rank-sum test. Categorical data were expressed as frequencies or percentages and compared using the chi-square test or Fisher′s exact test. To minimize the impact of potential confounders, multivariable linear regression and logistic regression analyses adjusted for propensity scores were further employed to compare quantitative and qualitative data between the groups. Statistical analyses were performed using R software. Results:The exhaust time, water intake time, and hospital stay in the early removal group were 3.0(2.0, 3.5) days, 4.0(3.0, 5.0) days, and 7.0(7.0, 8.0) days, respectively, while those in the non-early removal group were 4.0(3.0, 5.0) days, 6.0(5.0, 7.0) days, and 8.0(7.5, 11.0) days, respectively. Statistically significant differences were observed between the two groups ( P<0.05). However, there was no significant difference in the incidence of postoperative complications between the two groups (5.45% vs 17.02%, P=0.060). Propensity score-adjusted regression analysis suggested that early tube removal might reduce the risk of postoperative complications ( P=0.042). Conclusion:Early removal of nasogastric tubes can significantly accelerate functional recovery after total gastrectomy for gastric cancer patients and may reduce the risk of postoperative complications, providing important clinical guidance for enhanced recovery after surgery management in gastric cancer.

The biological clock(also known as the circadian rhythm)is the fundamental reliance for all organisms on Earth to adapt and survive in the Earth's rotation environment.Circadian rhythm is the most basic regulatory mechanism of life activities,and plays a key role in maintaining normal physiological and biochemical homeostasis,disease occurrence and treatment.Recent studies have shown that the biologi-cal clock plays an important role in the development of oral tissues and in the occurrence and treatment of oral diseases.Since there is cur-rently no guiding literature on the research methods of biological clock in stomatology,researchers mainly conduct research based on pub-lished references,which has led to controversy about the research methods of biological clock in stomatology,and there are many confusions about how to rationally apply the research methods of circadia rhythms.In view of this,this expert consensus summarizes the characteristics of the biological clock and analyzes the shortcomings of the current biological clock research in stomatology,and organizes relevant experts to summarize and recommend 10 principles as a reference for the rational implementation of the biological clock in stomatology research.

Objective To explore the application effect of advanced lung rehabilitation programs in patients un-dergoing high flow nasal cannula oxygen therapy(HFNC).Methods Convenience sampling method was used to se-lect 40 HFNC patients admitted to the respiratory department,ICU,coronary heart disease monitoring unit,and other departments of a tertiary A comprehensive hospital in Tianjin from January to June 2023 as the experimental group,and 40 HFNC patients admitted from June to December 2022 as the control group.Both groups of patients received HFNC treatment during hospitalization and continued at home,while the experimental group adopts the information-motivation-behavioral skills(IMB)model as the theoretical basis,implements advanced pulmonary rehabili-tation during the stable condition period,discharge preparation period,and home rehabilitation period,and imple-ments compliance management of home pulmonary rehabilitation through cloud follow-up,and the control group re-ceived routine lung rehabilitation and home follow-up.The degree of respiratory distress,6-minute walking distance,exercise self-efficacy,quality of life were compared between the 2 groups before intervention,2 months and 6 months after intervention,and compliance with home pulmonary rehabilitation was compared between the 2 groups 6 months after intervention.Results The repeated measures analysis of variance showed that there was an interaction effect between time and the 2 groups in terms of difficulty in breathing,6-minute walking distance,exercise self-ef-ficacy,and quality of life(P＜0.05).Simple effect analysis showed that after 2 and 6 months of intervention,the ex-perimental group performed better than the control group in the respiratory distress,6-minute walking distance,exer-cise self-efficacy,and quality of life(P＜0.05).Within 6 months of intervention,the compliance of home pulmonary rehabilitation in the experimental group was better than that in the control group,and the difference was statistically significant(P＜0.05).Conclusion The application of advanced pulmonary rehabilitation programme based on IMB can improve respiratory symptoms and improve exercise self-efficacy and adherence to pulmonary rehabilitation,en-hance activity endurance and improve quality of life.

Objective:To investigate the diagnostic accuracy of serological indicators and evaluate the diagnostic value of a new established combined serological model on identifying the minimal hepatic encephalopathy (MHE) in patients with compensated cirrhosis.Methods:This prospective multicenter study enrolled 263 compensated cirrhotic patients from 23 hospitals in 15 provinces, autonomous regions and municipalities of China between October 2021 and August 2022. Clinical data and laboratory test results were collected, and the model for end-stage liver disease (MELD) score was calculated. Ammonia level was corrected to the upper limit of normal (AMM-ULN) by the baseline blood ammonia measurements/upper limit of the normal reference value. MHE was diagnosed by combined abnormal number connection test-A and abnormal digit symbol test as suggested by Guidelines on the management of hepatic encephalopathy in cirrhosis. The patients were randomly divided (7∶3) into training set ( n=185) and validation set ( n=78) based on caret package of R language. Logistic regression was used to establish a combined model of MHE diagnosis. The diagnostic performance was evaluated by the area under the curve (AUC) of receiver operating characteristic curve, Hosmer-Lemeshow test and calibration curve. The internal verification was carried out by the Bootstrap method ( n=200). AUC comparisons were achieved using the Delong test. Results:In the training set, prevalence of MHE was 37.8% (70/185). There were statistically significant differences in AMM-ULN, albumin, platelet, alkaline phosphatase, international normalized ratio, MELD score and education between non-MHE group and MHE group (all P<0.05). Multivariate Logistic regression analysis showed that AMM-ULN [odds ratio ( OR)=1.78, 95% confidence interval ( CI) 1.05-3.14, P=0.038] and MELD score ( OR=1.11, 95% CI 1.04-1.20, P=0.002) were independent risk factors for MHE, and the AUC for predicting MHE were 0.663, 0.625, respectively. Compared with the use of blood AMM-ULN and MELD score alone, the AUC of the combined model of AMM-ULN, MELD score and education exhibited better predictive performance in determining the presence of MHE was 0.755, the specificity and sensitivity was 85.2% and 55.7%, respectively. Hosmer-Lemeshow test and calibration curve showed that the model had good calibration ( P=0.733). The AUC for internal validation of the combined model for diagnosing MHE was 0.752. In the validation set, the AUC of the combined model for diagnosing MHE was 0.794, and Hosmer-Lemeshow test showed good calibration ( P=0.841). Conclusion:Use of the combined model including AMM-ULN, MELD score and education could improve the predictive efficiency of MHE among patients with compensated cirrhosis.

Objective To explore the factors that affect the excretion rate of methotrexate and the occurrence of adverse reactions in high-dose methotrexate chemotherapy for osteosarcoma patients.Methods Retrospectively analyzed methotrexate excretion,liver injury,kidney injury,bone marrow suppression and other adverse drug reactions in 97 high-dose methotrexate chemotherapy cycles of 28 patients with osteosarcoma.The concentration of methotrexate in the blood at 0,24,48,72 h and the level of white protein in the blood were also analyzed.Results When the peak concentration of methotrexate(0h,Cmax)≥700 μmol·L-1 the risk of excretion delay increases:the incidence was 23.21％in group with Cmax ≥ 700 μmol·L-1,and it was 5.00％in group with Cmax＜700 μmol·L-1,(P＜0.05),but when the peak concentration was≥1 000 μmol·L-1,the risk of delayed excretion did not increase further:the incidence was 16.00％in group with Cmax 1 000 μmol·L-1,and it was 15.49％in group with Cmax＜1 000 μmol·L-1,(P＞0.05).Methotrexate blood Cmax has no significant correlation with the occurrence of important adverse reactions such as liver injury and bone marrow suppression.There was significant correlation between low serum albumin level and bone marrow suppression in patients.The average albumin level in group with bone marrow suppression was(39.1±3.4)g·L-1,which in without bone marrow suppression group was(41.2±4.0)g·L-1(P＜0.05).Conclusion During high-dose methotrexate chemotherapy in patients with osteosarcoma,delayed excretion and adverse reactions should not be prevented by lowering the peak concentration.The albumin level of patients is an important factor affecting the occurrence of bone marrow suppression.

Humans ; Gemcitabine ; Neoplasms

Objective:To analyze the metabolic mechanism of papillary thyroid cancer(PTC) in normal and Hashimoto′s thyroiditis(HT) background, and to explore the relationship between HT and PTC.Methods:This study included a matched sample set collected from Tianjin Medical University General Hospital between January 2018 and January 2019, consisting of PTC and paracancular tissue from 31 cases with coexisting HT(HT group), and 30 cases without(NC group), all confirmed pathologically following thyroidectomy. The ultra-high performance liquid chromatography combined with mixed four-stage poles time-of-flight mass spectrometry(UPLC-Q-TOF-MS) was employed to acquire data from the samples. Metabolite differences between the two groups were compared, aiming to identify distinct metabolic mechanisms of PTC under different backgrounds. Metabolic pathway analysis was conducted using Metabo-Analyst 5.0 to explore relevant metabolic pathways.Results:The HT group and NC group shared 7 common differentially expressed metabolites, including arginine, glutamic acid, cysteine, citric acid, malic acid, uracil, and taurine. Logistic regression model combined with receiver operating characteristic(ROC) analysis of these 7 biomarkers yielded excellent discriminatory capacity for PTC(area under ROC curve of HT group and NC group were 0.867 and 0.973, respectively). The common metabolic pathways were taurine and hypotaurine metabolism, arginine biosynthesis, alanine, aspartic acid and glutamic acid metabolism, arginine and proline metabolism, and glutamine and glutamic acid metabolism. The specific metabolic pathways in HT group were aminoacyl tRNA biosynthesis, glycine, serine, and threonine metabolism.Conclusion:The metabolic profiles of thyroid cancer exhibit significant differences between cases with normal backgrounds and those with HT. The specific pathways for PTC and HT are aminoacyl tRNA biosynthesis and the metabolism of glycine, serine, and threonine.