Objective To establish a transfer model for excess relative risk (ERR) for radiation-related leukemia from Japanese population to Chinese population.Methods Combined ERR of several subtypes of leukemia published in 1994, with the corresponding leukemia baseline incidence rates obtained from Cancer Incidence in Five Continents Vol.Ⅸ (CI5-Ⅸ) for Japanese population and Chinese population, a weighted risk transfer model was employed between an additive model and a multiplicative model, to execute ERR transfer.Results A range of weighing factors was proposed for risk transfer models:weighing factor was 0.4 for male and 0.3 for female, acute lymphoblastic leukemia, acute myeloid leukemia and chronic myeloid leukemia.The uncertainty for ERR transfer was characterized by lognormal distribution.Conclusions Based on the difference of baseline incidence rate for subtypes of leukemia between Japanese population and Chinese population, the transfer model and these weighing factors discussed in the present study could be applicable to transfer ERR for radiation-related leukemia from Japanese population to Chinese population.

Objective: To investigate the application of one stage otoptasty for congenital atresia of the external acoustic canal and malformations of the middle ear and the auricle. Method: patients with the ear malformations were given surgical reconstruction of one stage otoplasty. The auricle was reconstructed with the rib which was encapsuled with the superthin temporal flap. According to the malformations of the middle ear in patients, Ⅰ style tympanoplasty and Ⅲ style tympanoplasty were carried out respectively. All patients were performed myringoplasty with temporal fascia and reconstructed the external acoustic canal with full thickness skin-grafting. Result:A long term follow-up (4～6 years)demonstrated that 11 ears were survival of which 8 ears figuration were ideal. The hearing improvement was observed in all patients. Conclusion:one stage otoplasty is effective for treatment of the congenital malformations of the external and middle ear.

Objective To investigate the effect of idarubiein to imensify the MAC (IMAC) as preparative regimen for autologous peripheral blood stem cell transplantation(APBSCT)in acute myeioid leukemia.Methods Fourteen patients with acute myeloid leukemia who underwent APBSCT were analysed. IMAC was used as preparative regimens.Results All patients were engrafted successfully.The disease-free survival could be Ben in 8 cases(57.1%),the median disease-free survival duration were 26(8-72)months and no treatment-related mortality was present.Conclusion This study suggested that addition of Idarubicin to the MAC preparative regimens Was safe,effective and feasible for patients with acute myeloid leukemia,and may improve disease-free survival and overall survival.

OBJECTIVETo investigate the effect of cartilage-derived growth factor (CDGF) on cultured rabbit chondrocytes, and the relation between CDGF, insulin-like growth factor-I (IGF-I), and proliferation and metabolism of chondrocytes.

METHODSCDGF was extracted from chicken xiphoid in our laboratory. Chondrocytes were isolated from 3-week-old New Zealand male rabbits, and cultured in Ham's F-12 medium containing 10% fetal calf serum. The chondrocyts of second generation were treated with CDGF and/or IGF-I of different concentrations. With chloramine T method and MTT method, we compared the content of hydroxyproline in Ham's F-12 medium and observed proliferation and energy synthesis of chondrocytes.

RESULTSCDGF and IGF-I both stimulated the proliferation and synthesis of hydroxyproline of chondrocytes dose-dependently. The optimal concentration of CDGF was 16 ng/ml and 32 ng/ml respectively, and that of IGF-I was 30 ng/ml. There was obvious synergic effect between CDGF and IGF-I.

CONCLUSIONCDGF can stimulate the proliferation and collagen synthesis of chondrocytes and has synergistic effect with IGF-I.

Animals ; Cartilage ; metabolism ; Cell Division ; drug effects ; Chondrocytes ; drug effects ; physiology ; Dose-Response Relationship, Drug ; Drug Synergism ; Hydroxyproline ; biosynthesis ; Insulin-Like Growth Factor I ; pharmacology ; Male ; Proteins ; pharmacology ; Rabbits

Objective To investigate the relationship between p27 gene methylation and pathology of colorectal carcinoma. Methods p27 gene methylation promotor region and p27 protein expression were detected respectively by methylation specificity polymerase chain reaction and immunohistochemical staining SP in 106 cases of colorectal carcinoma and each adjacent normal mucous membrane tissue and 22 cases of colorectal adenoma tissue. Results The positive expression rate of p27 gene methylation was statistically different in colorectal carcinoma tissue compared with normal mucous membrane and colorectal adenoma tissue (P＜0.05). Their positive expression rate were 59.4% (63/106), 18.2% (4/22) and 3.8%(4/106) respectively in colorectal carcinoma tissue,colorectal adenoma and normal mucous membrane tissue (P ＜ 0. 05). p27 gene methylation in poorly differentiated group was significantly higher than that in welldifferentiated group (48.0% vs. 24. 7%, P ＜0. 05), in Dukes-A + B stage group was significantly lower than that in Dukes C + D stage group(20. 0% vs. 41.2%, P ＜ 0. 05 ), and it was higher in lymph nodes metastases group than that in lymph nodes negative group(41.5% vs. 23. 1%, P ＜0. 05), that in positive serosa infiltration group was higher than negative serosa infiltration group(32. 5% vs. 24. 1%, P ＞ 0. 05 ).Conclusions Methylated p27 gene protein expression in colorectal carcinoma was significantly higher than normal mucous membrane and colorectal adenoma tissue. The methylation rate of p27 gene in colorectal carcinoma was significantly associated with tumor differentiation, invasive depth, Dukes stage, lymph node metastasis.

Objective To investigate the relations between p53 and K-ras gene mutation in portal venous blood of gastric carcinoma patients and cancer metastasis. Methods p53 and K-ras gene mutation was detected with PCR-SSCP technology in 62 cases of gastric carcinoma. Results p53 and K-ras mutation rate were 39% and 34% in portal venous blood, but only 8% and 4. 8% in peripheral blood; The rate of gene mutation in p53 and K-ras were 24% and 22% in patient without liver metastasis, 92% and 77% in patient with liver metastasis; The rate of gene mutation in p53 and K-ras in portal venous were 39% and 34% before surgical exploration, but 56% and 63% after exploration. The rate of positive detection of the mutation was significantly (P

Objective:To explore the driver mutations in patients with classical myeloproliferative neoplasms (MPN) and their relationships with clinical characteristics.Methods:The clinical data of 186 patients with classical MPN in the Affiliated Yuebei People's Hospital of Shantou University Medical College from January 2013 to October 2019 who met the World Health Organization 2016 MPN diagnostic criteria were retrospectively analyzed. The mutations of diver genes JAK2, CALR and MPL and clinical characteristics, such as white blood cell count, hemoglobin, and platelet count in patients with essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) were analyzed.Results:Among the 186 MPN patients, 100 were male and 86 were female, with a median age of onset of 62.0 years old (24.0-93.0 years old). There were 125 patients (67.20%) with ET, 44 patients (23.66%) with PV, and 17 patients (9.14%) with PMF. The JAK2V617F mutation was found in 133 patients (71.51%, 133/186). The JAK2V617F mutation rates in patients with ET, PV and PMF were 66.40% (83/125), 88.64% (39/44) and 64.71% (11/17), respectively. Two patients (1.08%, 2/186) with PV were found with JAK2 exon 12 mutation. The CALR exon 9 mutation was found in 32 patients (17.20%, 32/186), with the CALR mutation rates of 24.00% (30/125), 0 and 11.76% (2/17) in patients with ET, PV and PMF, respectively. The MPL exon 10 mutation was found in one ET patient (0.54%, 1/186). CALR mutated ET patients showed higher platelet count [(1 155±537)×10 9/L vs. (997±330)×10 9/L, t = -2.095, P = 0.038], and lower leukocyte count ( t = 2.434, P = 0.017) and hemoglobin ( t = 3.087, P = 0.003) than JAK2V617F mutated ET patients. Two cases of MPN had rare concurrent driver mutations, of which one ET patient with JAK2V617F and CALR mutations and one PMF patient with JAK2V617F and MPLW515L mutations. Conclusions:The detection result of driver mutations is an important basis for precision health care for MPN. Different types of MPN have different detection rates of driver mutations, which are of great significances for judging the clinical characteristics of patients.

Objective:To explore the characteristics and patterns of gene mutations in tyrosine kinase inhibitor (TKI)-resistant chronic myeloid leukemia (CML) patients and their relationship with TKI-resistant CML.Methods:A retrospective case series study was performed. Clinical data and next-generation sequencing results from TKI-resistant CML patients in Nanfang Hospital of Southern Medical University and Yuebei People's Hospital of Shantou University Medical College from August 2018 to November 2022 were retrospectively analyzed, and the gene mutations of the patients in general and at different disease stages were analyzed.Results:Sixty patients were enrolled, with the age [ M ( Q1, Q3)] of 41.5 years old (32 years old, 53 years old); 38 cases (63.33%) were male and 22 cases (36.67%) were female; 43 cases were in the chronic stage, and 17 cases were in the progression stage (3 cases were in the accelerated stage and 14 cases were in the blast stage). non-ABL1 mutations were detected in 30 patients (50.00%) including 45 times of 15 non-ABL1 genes. The number of non-ABL1 mutation gene was 1 (0, 2) in 60 patients. Of the 60 patients, 21 (35.00%) had ASXL1 mutations, 5 (8.33%) had DNMT3A mutations, 5 (8.33%) had RUNX1 mutations, and 3 (5.00%) had SETBP1 mutations; the proportions of patients with 1 and ≥2 non-ABL1 mutations were 33.33% (20/60) and 16.67% (10/60), respectively. The total detection rates of non-ABL1 mutations were 52.94% (9/17) and 48.84% (21/43), and the detection rates of ≥2 non-ABL1 mutations were 23.53% (4/17) and 13.95% (6/43) in patients with progression and patients with chronic disease, and the differences were not statistically significant ( χ2 = 0.08, P = 0.774; χ2 = 0.80, P = 0.370). Seventeen of 60 patients (28.33%) had mutations in the ABL1 kinase region, of which 14 (82.35%) had non-ABL1 mutations; of these 17 cases, 6 patients with progressive disease all had non-ABL1 mutations, in 11 patients with chronic disease, 8 patients had non-ABL1 mutations, and the difference was not statistically significant ( P = 0.452). Conclusions:Patients with TKI-resistant CML have high frequencies of non-ABL1 mutations, and there is a trend for higher mutation rates in patients with progressive disease than in patients with chronic disease, and these may be related to the abnormal activation of ABL1 kinase by BCR-ABL1 fusion gene in patients with drug-resistant CML, which leads to the genome-level and epigenome-level mutations, and driving disease progression from chronic phase to accelerated or blast phase.

Objective:To investigate the clinical characteristics and next generation sequencing (NGS) results of acute myeloid leukemia (AML) patients dying early.Methods:A retrospective case series study was performed. The clinical data of 49 AML patients dying early in the Affiliated Yuebei People's Hospital of Shantou University Medical College from January 2016 to May 2021 were retrospectively analyzed. All patients were divided into 10 cases in the very early death group (death occurred within 3 d after diagnosis) and 38 cases in the non-very early death group (death occurred within 4-30 d after diagnosis). NGS was used to detect 196 mutant genes related to hematological malignancies.Results:The white blood cell count, creatinine level, lactate dehydrogenase level, bone marrow original cells proportion in the very early death group were higher than those in the non-very early death group, and the differences were statistically significant (all P < 0.05). Among 48 AML patients dying early, 34 cases had NGS results, among which the very early death occurred in 5 cases and the non-very early death occurred in 29 cases. Gene mutations were detected in 34 patients; finally 32 mutant genes were detected and 33 cases (97.06%) harbored more than 2 gene mutations, and the median number [ M ( Q1, Q3)] of gene mutations was 3 (2, 4). Conclusions:AML patients dying early harbor more than 2 gene mutations involving multiple signaling pathways. The clinical characteristics of AML patients in the very early death group are different from those of patients in the non-very early death group.

Objective:To investigate the occurrence of stroke and its associated risk factors in patients with Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPN).Methods:The data of patients diagnosed as Ph-negative MPN in the Affiliated Yuebei People's Hospital of Shantou University Medical College from January 2016 to December 2019 were retrospectively analyzed. The occurrence of stroke in these patients and the clinical characteristics were summarized. Logistic regression was used to analyze the risk factors of stroke in MPN patients.Results:A total of 193 Ph-negative MPN patients were collected, including 103 males and 90 females. The median age of onset was 62 years old (24-93 years old). There were 129 patients (66.84%) with essential thrombocythemia, 46 patients (23.83%) with polycythemia vera, and 18 patients (9.33%) with primary myelofibrosis. In 193 patients with MPN, there were 31 patients (16.06%) with stroke, including 30 cases (15.54%) of ischemic stroke and 1 case (0.52%) of hemorrhagic stroke, and the incidence of ischemic stroke was higher than that of hemorrhagic stroke, the difference was statistically significant (χ 2 = 54.258, P < 0.01). Among the patients with stroke, JAK2V617F mutation was observed to be the most common driver mutation (80.65%, 25/31). The small-artery occlusive cerebral infarction was the most common in ischemic stroke (63.33%, 19/30). Compared with MPN patients without stroke, those with stroke displayed higher hemoglobin level [(156±35) g/L vs. (138±40) g/L] and concurrent JAK2V617F and CALR mutations rate [3.23% (1/31) vs. 0.62% (1/162)], and lower CALR mutation rate [3.23% (1/31) vs. 19.14% (31/162)], the differences were statistically significant (all P < 0.05). Logistic regression analysis revealed that hemoglobin ≥ median level (140 g/L) was a risk factor for stroke in MPN patients ( OR = 2.903, 95% CI 1.163-7.244, P = 0.022), and CALR mutation acted as a protective factor for stroke ( OR = 0.090, 95% CI 0.009-0.932, P = 0.044). Conclusions:Ischemic stroke is more common than hemorrhagic stroke in Ph-negative MPN patients, and the small-artery occlusive cerebral infarction is also more frequently found in these patients. Hemoglobin ≥140 g/L is a risk factor for stroke in MPN patients, and CALR mutation is a protective factor.