1.Clinical features and prognosis of acute B lymphoblastic leukemia children carrying a TCF3: : PBX1 fusion gene
Lulu HUANG ; Yunyan HE ; Yang LI ; Danna LIN ; Ning LIAO ; Yayun LING ; Lyuhong XU ; Xinyu LI ; Huirong MAI ; Ying WANG ; Wuqing WAN ; Ying LIU ; Yanlai TANG ; Xiaoli ZHANG ; Chuan TIAN ; Xiaofeng LI ; Qiwen CHEN ; Xingjiang LONG ; Liuhua LIAO ; Qiaoru LI ; Jianling CAI ; Zijun ZHEN ; Zhiguang LI ; Keyan YANG ; Qinlong ZHENG ; Lihua YANG
Chinese Journal of Applied Clinical Pediatrics 2025;40(7):497-502
Objective:To analyze the clinical features and prognosis of acute B lymphoblastic leukemia (B-ALL) children carrying a TCF3: : PBX1 fusion gene and to evaluate the prognostic value of this gene.Methods:Retrospective cohort study.A total of 2 164 B-ALL children aged 0-18 years diagnosed and treated at 19 pediatric centers from October 2016 to June 2022 were enrolled.They were divided into the positive group and the negative group according to whether they carried a TCF3: : PBX1 fusion gene.The clinical characteristics, treatment response, adverse reactions, and prognosis of the 2 groups of patients were analyzed.The rank sum and Kruskal-Wallis tests were used to compare two and more than two groups of numerical variables, respectively.Fisher′s exact test was used to compare categorical variables.Results:Among the 2 164 patients, 116 (5.4%) were TCF3: : PBX1 positive, of which 70 patients were female, accounting for 60.3%.There were 840 female patients in the TCF3: : PBX1-negative group, accounting for 41.0%.There was a significant difference in the ratio of females between the TCF3: : PBX1-positive and TCF3: : PBX1-negative groups ( P<0.001).No significant difference was observed in age of onset between the two groups( P>0.05).The proportion of bone marrow naive cells [54.00 (14.00, 76.50)% vs.29.00 (3.00, 68.00)%], white blood cell counts [25.30 (10.46, 60.94)×10 9/L vs.9.03 (4.38, 30.73)×10 9/L] and hemoglobin counts [82.00(63.00, 101.00) g/L vs.74.00(60.00, 90.00) g/L] in the TCF3: : PBX1-positive group were significantly higher than those in the negative group at the onset (all P<0.05).In terms of treatment response, the proportion of peripheral blood naive cells on Day 8 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group [2.00 (0, 9.00)% vs.0 (0, 2.00)%, P<0.001].The proportion of minimal residual disease <0.1% on Day 15 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group ( P=0.038).There were no significant differences in cumulative recurrence rate, treatment-related mortality (TRM), and overall survival (OS) between the TCF3: : PBX1-positive group and TCF3: : PBX1-negative group (all P>0.05).The cumulative recurrence risk of TCF3: : PBX1-positive patients was 9.646 times higher than that of ETV6: : RUNX1-positive patients with better prognosis( HR=9.646, 95% CI: 1.026-90.700, P=0.047).There were no significant differences in TRM and OS between TCF3: : PBX1-positive and ETV6: : RUNX1-positive patients (all P>0.05).A significant enrichment of PAX5 mutations was detected in TCF3: : PBX1-positive patients.Among the 7 high-risk TCF3: : PBX1-positive patients in a single center, 4 patients had PAX5 mutations, and this proportion was significantly higher than that in other patients ( P<0.001). Conclusions:B-ALL children carrying a TCF3: : PBX1 fusion gene have a high remission rate and good long-term prognosis after intensive chemotherapy.It is suggesting that TCF3: : PBX1-positive B-ALL patients should be rated at intermediate risk to receive intensive chemotherapy.
2.Platelet quality during storage of platelet concentrates in Platelet Addictive Solution ⅢM: a comparative study
Yujian LIU ; Ranran YOU ; Qiwen LIN ; Bo HE ; Yongmei NIE
Chinese Journal of Blood Transfusion 2025;38(3):408-414
[Objective] To use Platelet Additive Solution Ⅲ M to suspend concentrated platelets and evaluate their quality at different storage periods, in order to investigate the optimal ratio of Ⅲ M to plasma in the medium for storing concentrated platelets. [Methods] Disposable plastic blood bags with platelet storage bags were used to collect whole blood from healthy voluntary blood donors, and concentrated platelets were collected by plasma-rich method, with a volume of about 50 mL and ≥4.0×1010 platelets contained in each bag. According to the Platelet Addictive Solution ⅢM/plasma volume ratio in the medium of suspended platelets, the platelets were divided into 3 groups: control group (plasma only), experimental group 1(Platelet Addictive Solution ⅢM/plasma volume ratio of 6.5∶3.5) and experimental group 2 (low plasma group, Platelet Addictive Solution ⅢM/plasma volume ratio of 9∶1), each group of 50 samples. Three groups of platelets were stored at (22±2) ℃ at a flat-bed shaker, and 5 mL were sampled by sterile connection at day 1, 3, 5 and 7 respectively to detect platelet count, pH value, lactate dehydrogenase, CD62P positive rate and Annexin V positive rate. All the data were analyzed with SPSS24.0 software. One-way ANOVA was employed to compare the differences among three groups. In order to pairwise comparisons between means of multiple samples, Bonferroni method was applied. [Results] With the extension of storage time, the platelet count decreased and the Annexin V positive rate increased in the 3 groups, and the difference of the 3 groups was not statistically significant (P>0.05). The pH value decreased in the 3 groups, with values at day 1, 3, 5 and 7 of 7.44±0.13 vs 7.44±0.14 vs 7.41±0.11, 7.31±0.68 vs 7.43±0.23 vs 7.22±0.12, 7.30±0.15 vs 7.42±0.14 vs 7.17±0.12, 7.29±0.33 vs 7.26±0.18 vs 7.04 ± 0.12, respectively. The pH decline in the control group and experiment group 1 was minor, with no statistically significant difference, but experiment group 2 showed relatively larger decreases in day 5 and day 7, with statistically significant difference (P<0.05). LDH concentrate was elevated in 3 groups (mmol/L), with values at day 1,3,5 and 7 of 169.62±99.33 vs 105.80±150.71 vs 77.14±105.38, 225.10±112.86 vs 116.00±72.77 vs 94.42±88.74, 249.42±79.55 vs 119.00±53.51 vs 118.35±80.39, 253.34±86.95 vs 147.71±90.71 vs 124.68±128.68 respectively. Compared with the control group, the difference was statistically significant (P<0.05). Experimental group1 had the smallest increase; CD62P positive rate increased in 3 groups (%), with values at day 1, 3, 5 and 7 of 26.22±11.74 vs 23.48±12.48 vs 40.49±11.86, 41.29±8.36 vs 33.53±25.64 vs 50.42±22.36, 59.59±10.13 vs 36.39±23.10 vs 50.94±20.50, 72.92±15.44 vs 55.54±23.65 vs 61.89±18.82 respectively. Compared with the control group, the increase in experiment group1 was smaller, and the difference was statistically significant (P<0.05). [Conclusion] Platelet Addictive Solution ⅢM/plasma volume ratio of 6.5∶3.5 is superior to traditional plasma in maintaining platelet quality during the in vitro preservation period of platelets.
3.Clinical features and prognosis of acute B lymphoblastic leukemia children carrying a TCF3: : PBX1 fusion gene
Lulu HUANG ; Yunyan HE ; Yang LI ; Danna LIN ; Ning LIAO ; Yayun LING ; Lyuhong XU ; Xinyu LI ; Huirong MAI ; Ying WANG ; Wuqing WAN ; Ying LIU ; Yanlai TANG ; Xiaoli ZHANG ; Chuan TIAN ; Xiaofeng LI ; Qiwen CHEN ; Xingjiang LONG ; Liuhua LIAO ; Qiaoru LI ; Jianling CAI ; Zijun ZHEN ; Zhiguang LI ; Keyan YANG ; Qinlong ZHENG ; Lihua YANG
Chinese Journal of Applied Clinical Pediatrics 2025;40(7):497-502
Objective:To analyze the clinical features and prognosis of acute B lymphoblastic leukemia (B-ALL) children carrying a TCF3: : PBX1 fusion gene and to evaluate the prognostic value of this gene.Methods:Retrospective cohort study.A total of 2 164 B-ALL children aged 0-18 years diagnosed and treated at 19 pediatric centers from October 2016 to June 2022 were enrolled.They were divided into the positive group and the negative group according to whether they carried a TCF3: : PBX1 fusion gene.The clinical characteristics, treatment response, adverse reactions, and prognosis of the 2 groups of patients were analyzed.The rank sum and Kruskal-Wallis tests were used to compare two and more than two groups of numerical variables, respectively.Fisher′s exact test was used to compare categorical variables.Results:Among the 2 164 patients, 116 (5.4%) were TCF3: : PBX1 positive, of which 70 patients were female, accounting for 60.3%.There were 840 female patients in the TCF3: : PBX1-negative group, accounting for 41.0%.There was a significant difference in the ratio of females between the TCF3: : PBX1-positive and TCF3: : PBX1-negative groups ( P<0.001).No significant difference was observed in age of onset between the two groups( P>0.05).The proportion of bone marrow naive cells [54.00 (14.00, 76.50)% vs.29.00 (3.00, 68.00)%], white blood cell counts [25.30 (10.46, 60.94)×10 9/L vs.9.03 (4.38, 30.73)×10 9/L] and hemoglobin counts [82.00(63.00, 101.00) g/L vs.74.00(60.00, 90.00) g/L] in the TCF3: : PBX1-positive group were significantly higher than those in the negative group at the onset (all P<0.05).In terms of treatment response, the proportion of peripheral blood naive cells on Day 8 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group [2.00 (0, 9.00)% vs.0 (0, 2.00)%, P<0.001].The proportion of minimal residual disease <0.1% on Day 15 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group ( P=0.038).There were no significant differences in cumulative recurrence rate, treatment-related mortality (TRM), and overall survival (OS) between the TCF3: : PBX1-positive group and TCF3: : PBX1-negative group (all P>0.05).The cumulative recurrence risk of TCF3: : PBX1-positive patients was 9.646 times higher than that of ETV6: : RUNX1-positive patients with better prognosis( HR=9.646, 95% CI: 1.026-90.700, P=0.047).There were no significant differences in TRM and OS between TCF3: : PBX1-positive and ETV6: : RUNX1-positive patients (all P>0.05).A significant enrichment of PAX5 mutations was detected in TCF3: : PBX1-positive patients.Among the 7 high-risk TCF3: : PBX1-positive patients in a single center, 4 patients had PAX5 mutations, and this proportion was significantly higher than that in other patients ( P<0.001). Conclusions:B-ALL children carrying a TCF3: : PBX1 fusion gene have a high remission rate and good long-term prognosis after intensive chemotherapy.It is suggesting that TCF3: : PBX1-positive B-ALL patients should be rated at intermediate risk to receive intensive chemotherapy.
4.Clinical study of lateral cervical approach surgery in the treatment of primary hyperparathyroidism
Feng ZHU ; Yijun WU ; Yibin SHEN ; Xueyu ZHOU ; Jun PAN ; Linghui CHEN ; Lixian ZHU ; Qiwen HE
Journal of Xi'an Jiaotong University(Medical Sciences) 2024;45(1):69-73
Objective To explore the feasibility and clinical outcome of lateral cervical incision via sternocleidomastoid intermuscular approach(SMIA)in the treatment of primary hyperparathyroidism.Methods The clinical data of 64 patients with primary hyperparathyroidism who underwent unilateral parathyroid surgery in the First Affiliated Hospital,School of Medicine of Zhejiang University from January 2019 to June 2022 were retrospectively analyzed.They were divided into lateral cervical incision via sternocleidomastoid intermuscular approach group(SMIA group)and linea alba cervicalis approach group(LACA group)based on the surgical incision and access route.The differences in clinical features,surgery-related outcomes and postoperative functions of the anterior cervical region were compared between the two groups.The EQ-5D-5L scale was used to assess the subjective feeling of postoperative neck discomfort,while the Hollander Wound Assessment Scale was used to assess the clinical outcome of incision healing.Results There were no statistical differences between the two groups of patients in terms of age,gender,intraoperative bleeding,parathyroid hormone or blood calcium levels before and after surgery(P>0.05).The duration of surgery was significantly shorter in the SMIA group than in the LACA group[(39.77±5.69)min vs.(54.41±4.66)min].There was a statistical difference between the two groups in functional protection of the anterior cervical region at 1 month and 12 months after surgery(1 month,84.67±3.74 vs.79.47±5.38,P<0.001;12 months,93.80±2.52 vs.89.94±2.39,P<0.001),and the SMIA group was better than the LACA group.The Hollander Incision Assessment Scale scores of the SMIA group were better than those of the LACA group at 6 months and 12 months after surgery,and the difference was statistically significant(6 months,1.93±0.58 vs.2.41±0.66,P=0.003;12 months,1.03±0.67 vs.1.74±0.62,P<0.001).Conclusion Parathyroidectomy via sternocleidomastoid intermuscular approach through lateral cervical incision is a simple,safe and effective surgical procedure,which makes it easier to search for parathyroid lesions and shortens the surgical time compared with the traditional incision,and has obvious advantages in the protection of anterior cervical region function.
5.Multicenter evaluation of minimal residual disease monitoring in early induction therapy for treatment of childhood acute lymphoblastic leukemia
Xiaojun WU ; Ning LIAO ; Huirong MAI ; Xinyu LI ; Wuqing WAN ; Lihua YANG ; Libin HUANG ; Xiangqin LUO ; Chuan TIAN ; Qiwen CHEN ; Xingjiang LONG ; Yunyan HE ; Ying WANG ; Chi-Kong LI ; Honggui XU
Chinese Journal of Pediatrics 2024;62(4):337-344
Objective:To evaluate the role of minimal residual disease (MRD) monitoring during early induction therapy for the treatment of childhood acute lymphoblastic leukemia (ALL).Methods:This was a multicenter retrospective cohort study. Clinical data of 1 164 ALL patients first diagnosed between October 2016 and June 2019 was collected from 16 hospitals in South China Children′s Leukemia Group. According to MRD assay on day 15 of early induction therapy, they were divided into MRD<0.10% group, MRD 0.10%-<10.00% group and MRD≥10.00% group. According to MRD assay on day 33, they were divided into MRD<0.01% group, MRD 0.01%-<1.00% group and MRD≥1.00% group. Age, onset white blood cell count, central nervous system leukemia (CNSL), molecular genetic characteristics and other data were compared between groups. Kaplan-Meier method was used for survival analysis. Cox regression model was used to analyze prognostic factors.Results:Of the 1 164 enrolled patients, there were 692 males and 472 females. The age of diagnosis was 4.7 (0.5, 17.4) years. The white blood cell count at initial diagnosis was 10.7 (0.4, 1 409.0) ×10 9/L. Among all patients, 53 cases (4.6%) had CNSL. The follow-up time was 47.6 (0.5, 68.8) months. The 5-year overall survival (OS) and 5-year relapse-free survival (RFS) rates were (93.1±0.8) % and (90.3±1.1) %. On day 15 of early induction therapy, there were 466 cases in the MRD<0.10% group, 523 cases in the MRD 0.10%-<10.00% group and 175 cases in the MRD≥10.00% group. The 5-year OS rates of the MRD<0.10% group, MRD 0.10%-<10.00% group and MRD≥10.00% group were (95.4±1.0) %, (93.3±1.1) %, (85.4±2.9) %, respectively, while the RFS rates were (93.2±1.6) %, (90.8±1.4) %, (78.9±4.3) %, respectively ( χ2=16.47, 21.06, both P<0.05). On day 33 of early induction therapy, there were 925 cases in the MRD <0.01% group, 164 cases in the MRD 0.01%-<1.00% group and 59 cases in the MRD≥1.00% group. The 5-year RFS rates in the MRD 0.01%-<1.00% group was lowest among three groups ((91.4±1.2) % vs. (84.5±3.2) % vs. (87.9±5.1) %). The difference between three groups is statistically significant ( χ2=9.11, P=0.010). Among ALL patients with MRD≥10.00% on day 15 of induction therapy, there were 80 cases in the MRD <0.01% group on day 33, 45 cases in the MRD 0.01%-<1.00% group on day 33 and 45 cases in the MRD≥1.00% group on day 33. The 5-year RFS rates of three groups were (83.9±6.0)%, (67.1±8.2)%, (83.3±6.9)% respectively ( χ2=6.90, P=0.032). Univariate analysis was performed in the MRD≥10.00% group on day 15 and the MRD 0.01%-<1.00% group on day 33.The 5-year RFS rate of children with CNSL was significantly lower than that without CNSL in the MRD≥10.00% group on day 15 ((50.0±20.4)% vs. (80.3±4.4)%, χ2=4.13, P=0.042). Patients with CNSL or MLL gene rearrangement in the MRD 0.01%-<1.00% group on day 33 had significant lower 5-year RFS rate compared to those without CNSL or MLL gene rearrangement ((50.0±25.0)% vs. (85.5±3.1)%, χ2=4.06, P=0.044;(58.3±18.6)% vs. (85.7±3.2)%, χ2=9.44, P=0.002). Multivariate analysis showed that age ( OR=0.58, 95% CI 0.35-0.97) and white blood cell count at first diagnosis ( OR=0.43, 95% CI 0.27-0.70) were independent risk factors for OS. The MRD level on day 15 ( OR=0.55,95% CI 0.31-0.97), ETV6-RUNX1 fusion gene ( OR=0.13,95% CI 0.03-0.54), MLL gene rearrangement ( OR=2.55,95% CI 1.18-5.53) and white blood cell count at initial diagnosis ( OR=0.52,95% CI 0.33-0.81) were independent prognostic factors for RFS. Conclusions:The higher the level of MRD in early induction therapy, the worse the OS. The MRD levels on day 15 is an independent prognostic factor for RFS.The MRD in early induction therapy guided accurate risk stratification and individualized treatment can improve the survival rate of pediatric ALL.
6.Infrared thermography combined with high frequency colour Doppler ultrasound to locate superficial fascia perforators in harvest of super-thin anterolateral thigh flaps
Xianhai LI ; Jiandong ZHOU ; Jie ZHENG ; Shihui HE ; Qiwen HU ; Yuxuan ZHANG ; Xuemin CHEN
Chinese Journal of Microsurgery 2024;47(6):635-640
Objective:To investigate the effect of combination of infrared thermography (IRT) and high frequency colour Doppler ultrasound (HFCDU) in location of superficial fascia perforating vessels and to guide the design and harvest of super-thin anterolateral thigh flap (ALTF) .Methods:A total of 15 patients who received medical treatment in the Department of Orthopaedics, Zhoushan Hospital and Department of Foot and Ankle Surgery, Wuxi No.9 People’s Hospital from January 2022 to July 2023 were selected to participate the study. The patients were 11 males and 4 females, aged 26 to 64 years with an average age of 48.3 years. A total of 14 wounds of foot, 1 of hand, 1 of forearm and 1 of ankle were reconstructed with 17 free super-thin ALTFs. The sizes of soft tissue defect were 5 cm×3 cm-23 cm×7 cm. The flaps were 6 cm×4 cm to 25 cm×8 cm in size. The donor sites were directly pulled together and sutured. Before surgery, HFCDU was applied to locate the perforator vessels across deep fascia into superficial fascia of the ALTF. IRT was further employed to locate the superficial perforator vessels on the superficial fascia in operating room. The running course of a perforating branch in the superficial fascia was determined by the running courses of the perforating branch located by the two location methods. Super-thin ALTFs were harvested and the precise locations of the perforating vessels were verified in surgery. SPSS 23.0 software was used for data analysis. Rank sum test was performed on the location data of superficial fascial perforating branches found by IRT and the data in surgery. P<0.05 was considered a statistically significant difference. All patients were included in the postoperative follow-up by means of visit of outpatient clinic and via WeChat reviews, where the survival and functional recovery of the flaps were observed. Results:A total of 30 perforating vessels had been located by HFCDU and 30 by IRT, and a total of 31 perforating vessels were found in superficial fascia in surgery. The true positive rate was 93.3%, with a false positive rate at 6.7% and a false negative rate at 9.7%. The rank sum test calculated P=0.853 for the number of perforating vessels located by the IRT and those found from surgery. There was no significant difference between the 2 detecting methods. No postoperative complication occurred in all 14 flaps. Partial necrosis occurred in 1 flap but healed after dressing changes. Venous occlusion had occurred in 1 flap, it was rectified after surgical exploration. Superficial infection happened in 1 flap and it was improved after anti-infection treatment. Postoperative follow-up was conducted for 3-12 months. The flaps were in good texture with satisfactory appearance and function of limbs. All donor sites healed well without scar hyperplasia. Conclusion:IRT combined with HFCDU is a reliable method in location of perforator vessels of ALTF, and it is an ideal technique in the exploration of perforator vessels and in the harvest of a super-thin flap.
7.Epidemiological and etiological characteristics of a death case of meningococcal meningitis
Ran LIU ; Ping LOU ; Zixiang HE ; Mingli FANG ; Shuijiao PENG ; Jing XIANG ; Zhifei ZHAN ; Qiwen ZHOU
Chinese Journal of Microbiology and Immunology 2024;44(10):899-905
Objective:To analyze the epidemiological and etiological characteristics of a death case of meningococcal meningitis in Hengyang city, Hunan Province in 2024.Methods:Epidemiological investigation of the death case was performed, and samples from the patient and close contacts were collected. Following cultivation and isolation, Neisseria meningitidis ( Nm) strains were analyzed by antimicrobial susceptibility testing, pulsed field gel electrophoresis (PFGE), and whole-genome sequencing for analyzing epidemiological and etiological characteristics. Phylogenetic analysis was carried out using core genomic multilocus sequence typing (cgMLST). Results:The case was a 16-year-old high school boarding student with fulminant meningococcal meningitis. He had shock symptoms, and died within 24 h of the onset of symptoms. Six Nm strains were isolated from the patient and his roommates, belonging to two distinct clades. Isolate 144569 from the patient was highly homologous to isolate 144572 from a close contact, both belonging to the highly pathogenic sublineage L44.1 of CC4821. The typical molecular features was C: P1.7-2, 14: F5-101: ST4821 (CC4821). The two strains carried the antimicrobial resistance genes of gyrA-71 and penA-552, indicating reduced susceptibility to quinolone and penicillin, which was with their resistance phenotype. The isolates from four close contacts clustered within the same clade, characterized by the molecular features of B: P1.18-25, 9-18: ST5829 (UA). Conclusions:The death case is caused by Nm serogroup C from highly pathogenic sublineage L44.1 of CC4821. The spread of this isolate has the potential risk of outbreaks of invasive meningococcal disease. It is necessary to enhanced the molecular epidemiological surveillance, particularly focusing on the transmission of multiple serogroups of Nm among adolescents and the increasing exposure risk.
8.Infrared thermography combined with high frequency colour Doppler ultrasound to locate superficial fascia perforators in harvest of super-thin anterolateral thigh flaps
Xianhai LI ; Jiandong ZHOU ; Jie ZHENG ; Shihui HE ; Qiwen HU ; Yuxuan ZHANG ; Xuemin CHEN
Chinese Journal of Microsurgery 2024;47(6):635-640
Objective:To investigate the effect of combination of infrared thermography (IRT) and high frequency colour Doppler ultrasound (HFCDU) in location of superficial fascia perforating vessels and to guide the design and harvest of super-thin anterolateral thigh flap (ALTF) .Methods:A total of 15 patients who received medical treatment in the Department of Orthopaedics, Zhoushan Hospital and Department of Foot and Ankle Surgery, Wuxi No.9 People’s Hospital from January 2022 to July 2023 were selected to participate the study. The patients were 11 males and 4 females, aged 26 to 64 years with an average age of 48.3 years. A total of 14 wounds of foot, 1 of hand, 1 of forearm and 1 of ankle were reconstructed with 17 free super-thin ALTFs. The sizes of soft tissue defect were 5 cm×3 cm-23 cm×7 cm. The flaps were 6 cm×4 cm to 25 cm×8 cm in size. The donor sites were directly pulled together and sutured. Before surgery, HFCDU was applied to locate the perforator vessels across deep fascia into superficial fascia of the ALTF. IRT was further employed to locate the superficial perforator vessels on the superficial fascia in operating room. The running course of a perforating branch in the superficial fascia was determined by the running courses of the perforating branch located by the two location methods. Super-thin ALTFs were harvested and the precise locations of the perforating vessels were verified in surgery. SPSS 23.0 software was used for data analysis. Rank sum test was performed on the location data of superficial fascial perforating branches found by IRT and the data in surgery. P<0.05 was considered a statistically significant difference. All patients were included in the postoperative follow-up by means of visit of outpatient clinic and via WeChat reviews, where the survival and functional recovery of the flaps were observed. Results:A total of 30 perforating vessels had been located by HFCDU and 30 by IRT, and a total of 31 perforating vessels were found in superficial fascia in surgery. The true positive rate was 93.3%, with a false positive rate at 6.7% and a false negative rate at 9.7%. The rank sum test calculated P=0.853 for the number of perforating vessels located by the IRT and those found from surgery. There was no significant difference between the 2 detecting methods. No postoperative complication occurred in all 14 flaps. Partial necrosis occurred in 1 flap but healed after dressing changes. Venous occlusion had occurred in 1 flap, it was rectified after surgical exploration. Superficial infection happened in 1 flap and it was improved after anti-infection treatment. Postoperative follow-up was conducted for 3-12 months. The flaps were in good texture with satisfactory appearance and function of limbs. All donor sites healed well without scar hyperplasia. Conclusion:IRT combined with HFCDU is a reliable method in location of perforator vessels of ALTF, and it is an ideal technique in the exploration of perforator vessels and in the harvest of a super-thin flap.
9.Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome.
Fengjuan HE ; Shenjian XU ; Qiwen LI ; Mengting JIANG ; Xiuzhen MAO
Chinese Journal of Medical Genetics 2022;39(10):1089-1092
OBJECTIVE:
To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome.
METHODS:
Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing.
RESULTS:
The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis.
CONCLUSION
The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
China
;
Dwarfism
;
Female
;
Humans
;
Intellectual Disability/genetics*
;
Mutation
;
Pedigree
;
Ribonucleoproteins/genetics*
;
Exome Sequencing
10.Prognostic factors of salvage radiotherapy after radical prostatectomy
Yang LIU ; Feng WEN ; Yali SHEN ; Qiwen PAN ; Jinxia HE ; Lixin MAI ; Hao ZENG ; Jianming GAO ; Xiang LI ; Zhiping LI ; Yonghong LI ; Xin WANG ; Liru HE ; Qiang WEI ; Fangjian ZHOU
Chinese Journal of Urology 2021;42(9):650-655
Objective:To investigate the prognosis after salvage radiotherapy with or without hormone therapy for prostate cancer.Methods:From May 2014 to December 2020, 248 patients undergoing salvage radiotherapy due to prostate-specific antigen (PSA)persistence or biochemical progression after radical prostatectomy at Sun Yat-sen University Cancer Center (n=157) and West China Hospital, Sichuan University (n=91) were analyzed. Median age was 66 (45-78) years old. Median PSA was 23.50 (0.18-845.00) ng/ml. The number of PSA persistence and biochemical progression were 143 (59%) and 105 (42%). The number of pT 2, pT 3a, pT 3b, pT 4, and unknown T stage was 99, 49, 78, 15 and 7 cases.The number of N 0, N 1 and unknown N stage was 153, 44 and 51 cases. 165 cases had positive surgical margin. Gleason score of 6, 7, 8, >8 score and unknown was in 12, 104, 34, 90 and 8 patients. Early and late salvage radiotherapy was performed in 117 and 131 patients, and 70 patients (28%) were CRPC. Hormone therapy was used combined with radiotherapy in 182 patients (73%). PSA decline after radiotherapy was compared with Chi-squre test. Kaplan-Meier method and log-rank test were used to compare progression free-survival (PFS)after radiotherapy. Univariate and multivariate analyses of PFS were performed using Cox proportional hazards model. Early salvage radiotherapy was defined as PSA≤0.5 ng/ml before radiotherapy, and late salvage radiotherapy was defined as PSA>0.5ng/ml. Results:PSA response (PSA decline ≥50%) rate was 94% (233/248), and 82% (203/248) patients had PSA decline ≥ 90%. Twelve (5%) patients had rising PSA after completing radiotherapy, but only 4 (2%) had real progression. The median PFS was 69 months (95% CI 68-70), and 3-year and 5-year PFS rate were 80% and 67%. PFS of PSA persistence and biochemical progression were similar ( HR =0.71, 95% CI 0.37-1.37, P=0.311). Compared with late salvage radiotherapy, early salvage radiotherapy had better PFS [69 (95% CI 68-70) vs. 59 (95% CI 44-74) months, P<0.001]. Compared with hormone sensitive, castration-resistant was associated with worse PFS (5-year PFS rate 74% vs. 51%, P<0.001). In multivariate analysis, Gleason score>8, castration-resistant and late salvage radiotherapy were unfavorable prognostic factors. Conclusions:In patients receiving salvage radiotherapy with or without hormone therapy for PSA persistence and biochemical progression after radical prostatectomy, high PSA level before radiotherapy and castration resistant is associated with poor prognosis.

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