【Objective】 To study the platelet transfusion predictive models in tumor patients and evaluate its application effect. 【Methods】 A retrospective study was conducted on 944 tumor patients, including 533 males and 411 females who received platelet transfusion in the Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University, the Affiliated Cancer Hospital of Xinjiang Medical University and Kailuan General Hospital from August 2022 to January 2023. Multivariate Logistic regression analysis was used to establish the platelet transfusion predictive models, and Medcalc15.8 software was used to draw the receiver operating curve (ROC) to evaluate the application effect of the prediction model. The actual application effect of models was verified through 162 female clinical cases and 172 male clinical cases. 【Results】 The incidence of platelet transfusion refractoriness in tumor patients was 28.9% (273/944), with 33.2% (177/533) in males, significantly higher than that in females [23.4% (96/411)] (P<0.05). Platelet transfusion predictive models: Y1 (female) =-8.546+ (0.581×number of pregnancies) + (0.964×number of inpatient transfusion bags) + number of previous platelet transfusion bags (5-9 bags: 1.259, ≥20 bags: 1.959) + clinical diagnosis (lymphoma: 2.562, leukemia: 3.214); Y2 (male) =-7.600+ (1.150×inpatient transfusion bags) + previous platelet transfusion bags (10-19 bags: 1.015, ≥20 bags: 0.979) + clinical diagnosis (lymphoma: 1.81, leukemia: 3.208, liver cancer: 1.714). Application effect evaluation: The AUC (area under the curve), cut-off point, corresponding sensitivity and specificity of female and male platelet transfusion effect prediction models were 0.868, -0.354, 68.75%, 89.84% and 0.854, -0.942, 81.36%, 77.53%, respectively. Actual application results showed that the sensitivity, specificity, and accuracy of female and male model were 89.47%, 92.74%, 91.98% and 83.72%, 91.47%, 89.53%, respectively. 【Conclusion】 There is high incidence of platelet transfusion refractoriness in tumor patients, and the predictive model has good prediction effect on platelet transfusion refractoriness in tumor patients, which can provide reliable basis for accurate platelet transfusion in tumor patients.

OBJECTIVE: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes. METHODS: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed. RESULTS: The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously. CONCLUSION Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans ; Loeys-Dietz Syndrome/genetics* ; Receptor, Transforming Growth Factor-beta Type I/genetics* ; Receptor, Transforming Growth Factor-beta Type II/genetics* ; Transforming Growth Factor beta3 ; Face

Objective:To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with X-linked retinoschisis (XLRS), and to determine the associated gene variations.Methods:A pedigree investigation was performed.The clinical characteristics and pedigree analysis of a Han Chinese family line with XLRS was conducted in August 2021 at the Xiamen Eye Center Affiliated to Xiamen University.All patients and the carriers underwent comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, non-contact tonometer, slit lamp microscope, direct ophthalmoscope, and optical coherence tomography.The proband and some patients underwent medical optometry, fundus photography or wide-angle fundus photography, and electroretinogram examination.Peripheral venous blood samples were collected from the family members, and whole exome sequencing (WES) analysis was performed on the proband samples.For variants screened by WES, the expanded verification in other patients and normal persons in the family was carried out by Sanger sequencing.Multiple bioinformatic tools were used to analyze the pathogenicity of variants.This study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-KY-2021-012). Written informed consent forms were obtained from each subject or guardian of minors.CADD, FATHMM and other bioinformatics tools were used to analyze the pathogenicity of the variation sites.Results:The Han XLRS pedigree consisted of 8 individuals in 3 generations.Out of the 3 cases diagnosed with XLRS based on clinical evaluation, all were male.The mother of the proband was a carrier of related genes.There were 5 persons with normal phenotypes.There was no history of consanguineous marriages within the family, and the disease was shown to be intergenerational, which is consistent with the recessive inheritance of the X chromosome.None of the patients had a history of systemic disease or any other abnormal manifestations.The prevailing feature of ophthalmopathy was poor binocular vision since childhood.The proband and his younger brother had spoke split in the macula, and their grandfather showed atrophy of retinal nerve fibers.Genetic analysis revealed a hemizygous variation c. 214G>C: p.Glu72Gln in the RS1 gene in all the patients in this family.The proband's mother was heterozygous at this site, and all other phenotypically normal family members exhibited wild type at this site.This variant was predicted to be a deleterious variation and likely to cause disease based on bioinformatics analysis. Conclusions:The proband and patients in this Han Chinese family have the known c. 214G>C: p.Glu72Gln hemizygous variation of the RS1 gene and exhibit mild XLRS, which was consistent with the recessive inheritance of X chromosome.

Objective:To investigate the preoperative ascending aorta diameter in patients with acute type A aortic dissection in the Chinese population, compares and analyze the differences in preoperative blood biomarkers, and evaluate the impact of the preoperative ascending aorta diameter in this part of patients on the short-term prognosis of patients.Methods:A collection of 641 patients with acute type A aortic dissection who were enrolled in the " Acute Aortic Syndrome High-Risk Early Warning and Intervention Study" project from January 2018 to January 2020 were collected. Divide the patients into two groups (group Ⅰ<55 mm, group Ⅱ≥55 mm) according to the preventive intervention value of ascending aorta diameter recommended by the guideline for studying preoperative ascending aorta diameter difference in blood biomarkers and the influence of ascending aorta diameter on the short-term prognosis of patients. All patients had CT scans to assess the diameter of the ascending aorta before operation.Results:In this study, all patients with acute type A aortic dissection had a mean preoperative ascending aorta diameter of (46.9±9.7)mm. The preoperative ascending aorta diameter of all patients was less than 55 mm, accounted for 84.1%. Male patients were more likely to have aortic dissection than females; most patients' age was less than 60 years old. The preoperative blood inflammatory index counts were higher in the ascending aorta diameter ≥55 mm group. However, the long-term prognosis of patients with different ascending aorta diameters before surgery was not apparent in this study. The preoperative survival rate and short-term survival rate of patients with ascending aorta diameter <55 mm were higher than those of other groups, but the difference was not statistically significant.Conclusion:In patients with acute type A aortic dissection, the diameter of the ascending aorta is usually less than 55 mm. Moreover, the blood inflammatory index counts are high in the preoperative ascending aorta diameter ≥55 mm group. Meanwhile, patients with smaller ascending aorta diameter have better survival rate and short-term prognosis.

The etiology and pathogenesis of keloid are still not clear. It is believed that the formation of keloid is due to the joint action of many factors, during which process the external factor of fibroblast play an important role. Reprogramming of glucose metabolism in keloid fibroblasts is a new research direction. TGF-β 1 and its related TGF-β 1/Smad signalling pathway are considered to be the most closely related to the formation of keloid. This article reviews the research progress on extracellular factors, glucose metabolism and signaling pathways of keloids.

Objective:To explore the basic rules of hemodynamics of the multi-territory flap in the early stage.Methods:In this paper, based on the prototype of the free flaps and vascularized pedicled transpositional flaps. The angiosome theory was applied as a basis to systematically analyze the blood flow pathway, the resistance network, and the series or parallel connection mode between each resistance network within the flap, according to the knowledge of fluid mechanics and current pathway, and finally the mathematical model was used for deduction.Results:Based on the model, it can be concluded that a dynamic flow balance can be achieved in the arteries and veins of the multi-territory flap in the early stage and the flap could be divided into four areas: the effective microcirculation zone, the venous stasis zone, the relative ischemic zone and the absolute ischemic zone. And the following inferences can be drawn: (1) The blood supply to the vascular pedicle is constant by pressure rather than by flow. (2) The resistance of the flap varies by the position or the relative position of the arterial vascular pedicle and venous vascular pedicle. (3) The flow velocity decrease gradually from the pedicle to the distal end. (4) The main factors that lead to distal flap necrosis vary depending on the region in which they are located: the venous stasis zone is mainly due to obstructed venous return, and the relative and absolute ischemic zones are mainly due to insufficient arterial blood supply.Conclusions:The basic rules and characteristics of hemodynamics of the multi-territory flap in the early stage can be well explained by this theoretical model, the pedicled artery and vein of the flap can achieve a dynamic balance of flow, and the blood flow gradually decreases from the pedicle to the distal end. The survival range of the flap depends on the pressure difference between the artery and vein as well as the resistance of the blood flow path in the flaps. The distal necrotic area of the flap can be divided into venous stasis area and arterial insufficiency area.

The etiology and pathogenesis of keloid are still not clear. It is believed that the formation of keloid is due to the joint action of many factors, during which process the external factor of fibroblast play an important role. Reprogramming of glucose metabolism in keloid fibroblasts is a new research direction. TGF-β 1 and its related TGF-β 1/Smad signalling pathway are considered to be the most closely related to the formation of keloid. This article reviews the research progress on extracellular factors, glucose metabolism and signaling pathways of keloids.

Objective:To explore the basic rules of hemodynamics of the multi-territory flap in the early stage.Methods:In this paper, based on the prototype of the free flaps and vascularized pedicled transpositional flaps. The angiosome theory was applied as a basis to systematically analyze the blood flow pathway, the resistance network, and the series or parallel connection mode between each resistance network within the flap, according to the knowledge of fluid mechanics and current pathway, and finally the mathematical model was used for deduction.Results:Based on the model, it can be concluded that a dynamic flow balance can be achieved in the arteries and veins of the multi-territory flap in the early stage and the flap could be divided into four areas: the effective microcirculation zone, the venous stasis zone, the relative ischemic zone and the absolute ischemic zone. And the following inferences can be drawn: (1) The blood supply to the vascular pedicle is constant by pressure rather than by flow. (2) The resistance of the flap varies by the position or the relative position of the arterial vascular pedicle and venous vascular pedicle. (3) The flow velocity decrease gradually from the pedicle to the distal end. (4) The main factors that lead to distal flap necrosis vary depending on the region in which they are located: the venous stasis zone is mainly due to obstructed venous return, and the relative and absolute ischemic zones are mainly due to insufficient arterial blood supply.Conclusions:The basic rules and characteristics of hemodynamics of the multi-territory flap in the early stage can be well explained by this theoretical model, the pedicled artery and vein of the flap can achieve a dynamic balance of flow, and the blood flow gradually decreases from the pedicle to the distal end. The survival range of the flap depends on the pressure difference between the artery and vein as well as the resistance of the blood flow path in the flaps. The distal necrotic area of the flap can be divided into venous stasis area and arterial insufficiency area.

Objective:To evaluate the impact of the reform of the county medical community on the expenditure of medical insurance funds, and to provide references for maintaining the stability of the medical insurance fund and deepening the reform of the medical community.Methods:Medical insurance data of urban and rural residents in M County, Yunnan province from 2016 to 2019 were collected, and a discontinuous time series model was used to analyze the impact of county medical community reform on medical insurance fund expenditures.Results:Since the reform, the number of patients discharged from county-level hospitals has shown a downward trend, averaging a decrease of 25.996 people per month; yet increases have emerged with the average hospitalization expenditure, the average hospitalization overall fund expenditure, and the average outpatient overall fund expenditure, averaging a monthly increase of 90.931 yuan, 50.014 yuan and 1.528 yuan respectively. The average hospitalization expenditure, the average hospitalization overall fund expenditure, and the average outpatient overall fund expenditure of the township hospitals all showed an upward trend, averaging a monthly increase of 31.191 yuan, 38.678 yuan and 0.085 yuan respectively. The flow of external medical insurance funds of the medical community has shown a continuous upward trend, averaging a monthly increase of hospitalization fund expenditures of 33.005 yuan, and a monthly increase of outpatient overall fund expenditures of 4.896 yuan overall.Conclusions:The M County medical community should further strengthen the top-level design, explore the reform of medical insurance payment methods, improve the regional information platform, standardize the referral system, and strengthen supervision to deepen the construction of the medical community to ensure the sustainable operation of medical insurance funds.

Objective:To explore whether there is Warburg effect in keloid fibroblasts (KFs) , hypertrophic scar fibroblasts (HSFs) and atrophic scar fibroblasts (ASFs).Methods:KFs, HSFs, ASFs and NFs were isolated and cultured, respectively, in vitro. Glucose consumption and lactate production of the cells in each group were tested and compared. The mRNA expression of key glycolytic enzymes was detected, including hexokinase 2 (HK2), fructose-2, 6-biphosphatase 3 (PFKFB3), pyruvate kinase isoform M 2 (PKM2) and lactate dehydrogenase A (LDHA). In addition, the effect of 2-deoxy-D-glucose(2-DG) on the proliferation of KFs and NFs were detected and compared.Results:Glucose consumption and lactate production in KFs were 45.5% and 38.1% higher than those in NFs respectively ( P<0.01), while there was no statistical difference in glucose consumption and lactate production between ASFs and NFs, HSFs and NFs ( P>0.05). The mRNA expression of HK2, PKM2 and LDHA genes in KFs were 4.7, 2.7 and 1.8 times higher than those in NFs ( P<0.05), respectively, while the gene expressions in ASFs and HSFs had no statistical differences from those in NFs ( P>0.05). Under the action of 2-DG, the cell proliferation activity in KF group and NF group were reduced by 37.5% and 27.0%, respectively, indicating that the inhibition effect of glycolysis inhibitor on the proliferation activity of KFs was significantly higher than that of NFs. Conclusions:There is Warburg effect in KFs and there are no similar phenomena in HSFs and ASFs.