Objective To explore the efficacy of retropubic midurethral synthetic sling(RMUS)in relieving urgency and urge urinary incontinence(UUI)symptoms in patients with mixed urinary incontinence(MUI).Methods Clinical data of 44 female MUI patients treated with RMUS during Jan.2018 and Dec.2020 in Shanghai Renji Hospital were retrospectively analyzed.All patients had positive results in stress test and Marshall-Marchetti test before operation,and 27 of them completed ICIQ-FLUTS-LF questionnaire.Urodynamic(UDS)tests suggested that 9 patients(20.5％)presented detrusor overactivity(DO).During RMUS procedure,the tension of the sling was adjusted based on the anatomical landmarks.The postoperative efficacy and improvement of urinary incontinence were analyzed.Results The patients aged(58.59±9.08)years,with a body mass index of 24.71±2.77.Among the 40 patients who completed telephone interview 2 years after surgery,the subjective cure rate was 85.0％(34/40).Among the 27 patients with records of questionnaires before and after surgery,there were significant differences in the incidence of urine leakage[100％(27/27)vs.18.5％(5/27)],stress urinary incontinence(SUI)[100％(27/27)vs.18.5％(5/27)]and UUI[70.4％(19/27)vs.29.6％(8/27)](P＜0.05).However,no statistical differences were found regarding nocturia voiding episode(≥1 times),urgency,dysuria,hesitancy,strain to void,intermittent stream and enuresis(P＞0.05).Based on preoperative UDS test,there were significant differences regarding the subjective cure rate in patients with or without preoperative DO[55.6％(5/9)vs.93.5％(29/31)],incidence of SUI[66.7％(4/6)vs.4.8％(1/21)],and UUI[66.7％(4/6)vs.19.0％(4/21)](P＜0.05),while there was no statistical difference regarding urgency[66.7％(4/6)vs.33.3％(7/21)](P＞0.05).Conclusion RMUS is effective in treating MUI patients with positive stress test and Marshall-Marchetti test results,which can relieve SUI and UUI symptoms,but has no effects on urgency symptoms.DO on preoperative urodynamics results in poorer subjective outcomes.

Objective:To study the clinical and genetic characteristics of Gitelman syndrome in children.Methods:Four children diagnosed with Gitelman syndrome in the Baoding Children′s Hospital from January 2017 to October 2018 were enrolled, and their clinical data and pathogenic gene carrying status were analyzed.Results:There were 2 males and 2 females in the enrolled patients.Two children complained of short stature and 2 children were diagnosed as hypokalemia by accident.All the 4 children showed constipation, short stature, repeated hypokalemia, hyponatremia, hypochloremia, normal urinary calcium/creatinine ratio, elevated renin and angiotensin Ⅱ levels in supine position, and normal aldosterone.Three children had hypomagnesemia and 1 child had a normal blood magnesium level.All of the 4 children had a compound heterozygous mutation of SLC12A3 gene.The mutations of c. 1670-7G>A and c. 1698C>A were not reported in the literature. Conclusions:Constipation and short stature are common clinical manifestations of Gitelman syndrome in children.Typical cases show hypokalemia, hypomagnesemia, hyponatremia and hypochloremia, etc.The blood magnesium level can be normal in few children.Most children with Gitelman syndrome carry SLC12A3 compound heterozygous mutations.

Objective:To explore the characteristics and clinical significance of clonal heterogeneity in patients with acute lymphoblastic leukemia(ALL).Methods:From January 2016 to June 2019, 170 newly diagnosed ALL patients were enrolled in the Department of Hematology, Henan Cancer Hospital, including 93 males and 77 females, with a median age of 17 (2-80) years. Fifty-two ALL-related genes were detected by high-throughput sequencing technique. The clonal heterogeneity of mutations was analyzed according to the variant allele frequency (VAF) and the results of flow cytometry. The prognostic value of mutations was also evaluated.Results:Gene mutations were detected in 121 (71.2%, 121/170) patients, of which 2 or more clones were detected in 18 (52.9%, 18/34) T-cell acute lymphoblastic leukemia patients, while only 23 (16.9%, 23/136) B-cell acute lymphoblastic leukemia patients were positive of multiple mutations ( P<0.01).Gene mutation-related clonal heterogeneity analysis showed that 2 or more clones were frequent in patients with NOTCH1 mutations (13/19 patients) ( P<0.01). Event free survival (EFS) in patients with 3 or more clones was significantly lower than other patients (χ 2=10.330, P=0.016). Child ALL patients had similar result, that multiple clones predicted lower overall survival (OS) and EFS (OS: χ 2=7.974, P=0.047; EFS: χ 2=10.860, P=0.013). Conclusion:Clonal heterogeneity in ALL patients is closely related to the different origin of lymphocyte lineages and the age of onset, which may reveal the nature of the disease and predict the clinical outcome.

Objective: To explore the relationship between driver gene mutation (JAK2, MPL and CALR) and disease type in BCR-ABL negative myeloproliferative neoplasms (MPNs) including primary myeloid fibrosis (PMF), essential thrombocytosis (ET) and polycythemia vera (PV). Methods: A total of 32 MPN related genes were detected by high-throughput sequencing in 156 MPN patients. The relationships between disease type and patients′ general performance, the characteristics of driver gene mutations, concomitant gene mutations were analyzed. Results: In the population with JAK2 V617F positive mutation, the proportion of patients over 60 years old in PMF was higher than that with ET or PV. By high-throughput sequencing, 22 concomitant gene mutations were detected in 46 patients with JAK2, MPL or CALR mutations, including 4 (8.3%) in PV, 20 (29.4%) in ET, and 22 (55.0%) in PMF. DNMT3A mutation was detected only in patients with PV, while splicing factor related genes including SF3B1, SRSF2 and U2AF1 were only accompanied by PMF. According to the variation allele frequency (VAF) value of JAK2 V617F mutation, the VAF value associated with PV was the highest (68.15%), followed by PMF (37.7%) and ET (23%). However, there were significant differences in the incidence of JAK2 V617F homozygous among 3 different diseases. In patients with JAK2 mutation, the proportion of other gene mutations in PV and ET was significantly lower than that in PMF. Conclusions Under the condition of common driver gene mutations (JAK2, MPL and CALR), patients′ age, VAF value and homozygous state, concomitant gene mutations are closely related to different disease type. These correlations help to improve clinical understanding of disease characteristics and risk assessment.

Objective:This study aimed to explore the characteristics and clinical value of clonal heterogeneity in acute myeloid leukemia (AML) .Method:A high-throughput sequencing was carried out to detect 68 related genes in 465 AML patients. Clonal heterogeneity was analyzed based on variant allele frequency (VAF) and flow cytometry results combined with clinical data.Results:Gene mutations were discovered in 338 (81.4%) newly diagnosed patients, and 2 or more clones were significantly increased in patients with DNMT3A, NRAS, and RUNX1 mutations (DNMT3A, χ2=15.23; P<0.001; NRAS, χ2=19.866; P<0.001; RUNX1, χ2=23.647; P<0.001) . The number of clones significantly differed between groups at different ages ( χ2=17.505, P=0.022) . The proportion of carrying 2 and ≥3 clones increased in patients aged more than 60 years old. There was a significant difference in the clonal heterogeneity between newly diagnosed patients and relapsed or secondary patients ( χ2=11.302, P=0.010) . Moreover, the proportion of patients with clonal heterogeneity gradually increased according to their prognostic risk ( χ2=17.505, P=0.022) . Based on the clone analysis, the proportion of primary clones of patients with RUNX1 mutation was higher ( χ2=4.527, P=0.033) . The analysis of clonal heterogeneity and efficacy demonstrated that patients with three or more clones had significantly lower overall survival (OS) and progression-free survival (PFS) compared to other patients (OS, χ2=13.533; P=0.004; PFS, χ2=9.817; P=0.020) , while in the intermediate-risk group, patients with a significant clonal heterogeneity also exhibited a significant decrease in PFS ( χ2=10.883, P=0.012) . Cox regression multivariate analysis revealed that carrying three or more clones was an independent factor affecting prognosis, and OS and PFS were significantly lower than those of patients without clones (OS, HR=3.296; 95% CI, 1.568-6.932; P=0.002; PFS, HR=3.241; 95% CI, 1.411-7.440; P=0.006) . Conclusion:Clonal heterogeneity may reflect the biological characteristics of a tumor, suggesting its drug resistance, refractory, and invasiveness, and further evaluate the treatment effect and prognosis of patients.

Objective: To investigate the imaging appearance of CT and MRI in retroperitoneal dedifferentiated liposarcoma (DDL) based on pathological findings. Methods: Twelve patients with retroperitoneal DDL (13 lesions) who were surgically and pathologically confirmed were retrospectively collected in the Cancer Hospital of Chinese Academy of Medical Sciences. The correlation of CT and MRI features with histopathologic findings was analyzed. Results: The CT and MRI images of retroperitoneal DDLs were large, heterogeneous soft-tissue masses, mostly lobulated (30.8%, 4/13) or multinodular (46.2%, 6/13), invading adjacent anatomic structures (46.2%, 6/13). The lesions contained different proportions of fatty and non-fatty components, and usually with clear boundaries. The CT images of dedifferentiated components showed non-fatty masses of soft tissue density or mixed density, among which ground-glass nodules may be related to mucinous components. Occasionally calcification or ossification was seen (45.5%, 5/11). The contrast-enhanced CT and MRI images of non-fatty components commonly showed intense heterogeneous enhancement (84.6%, 11/13), central cystic changes and necrosis (61.5%, 8/13), pathologically corresponding to multiple types of soft tissue sarcomas without significant specificity. The well-differentiated components were fatty masses with irregular fibrous septa or soft tissue nodules, which is pathologically corresponding to well differentiated liposarcoma. Lymph node or distant metastasis was rare. Conclusions The imaging manifestations of retroperitoneal DDLs are diverse and closely related to the proportion and distribution of different components. CT, MRI and contrast-enhanced imaging has a certain diagnostic value for retroperitoneal DDLs.

Objective: To investigate the characteristics and prognosis of clonal chromosomal abnormalities appearing in Philadelphia negative metaphases (CCA/Ph^-) cells in chronic myeloid leukemia (CML) with tyrosine kinase inhibitor (TKI) therapy. Methods: The clinical data of 30 cases with CCA/Ph^- during TKI treatment in Henan Cancer Hospital from August 2007 to July 2017 were retrospectively analyzed. The univariate factor was analyzed by Kaplan-Meier method. Multiple-factor was analyzed by Cox proportional risk model. Results: Of the 30 cases, 19 (63.3%) were males. At the first detection of CCA/Ph^- the median age was 44 (rang 14-68) years old and the median treatment of TKI was 13 (rang 2-94) months. The clones proportion of first detected CCA/Ph^-≥ 50% was found in 18 (60.0%) cases. TKI treatment for 3 months with BCR-ABL^IS less than 10% was seen in 14 (46.7%) patients. 63.3% (19/30) of CCA/Ph^- was transient (only one time) and 36.7% (11/30) was repeated (≥2 times) . Trisomy 8 dominant accounted for 60.0% (18/30) , -7/7q- for 13.3% (4/30) , loss of chromosome Y 6.7%. With a median of follow-up 50 months, 76.7% (23/30) cases were in complete cytogenetic response (CCyR) ; 63.3% (19/30) in major molecular response (MMR) , 43.3% (13/30) in undetectable minimal residual disease (UMRD) . The median event-free survival rate of (EFS) were 44 months, and 2-year and 5-year EFS were (82.1±7.3) % and (52.4±12.8) %, respectively. The median overall survival (OS) were 50 months, and 2-year and 5-year OS rates were (92.6±5.0) % and (77.2±14.7) %, respectively. Univariate analysis shows that the 2-year EFS of who in males, more than 2 times CCA/Ph^-, BCR-ABL^IS>10% at 3 months after TKI were significantly lower than women, transient CCA/Ph^-, and BCR-ABL^IS≤10% (P<0.05) . The 2-year OS rate in whom the occurrence frequency of CCA/Ph^- more than twice was significantly lower than those with transient CCA/Ph^- (P<0.05) . Multivariate analysis showed that CCA/Ph^- was an independent risk factor (RR=4.741, 95%CI 1.21-18.571, P=0.018) for EFS in CML patients. Conclusion Trisomy 8, -7/7q-, and -Y were the most common CCA/Ph^- during TKI treatment, with high clones proportion of ≥50%. CCA/Ph^- mainly occurred transiently or was permanent occasionally. CCA/Ph^- recurrence (≥2 times) was an independent risk factor for EFS and OS in CML with TKI.

Objective: To investigate the influence of additional clonal chromosome abnormalities in Ph negative cells (CCA/Ph^-) on the efficacy of chronic myeloid leukemia (CML) after tyrosine kinase inhibitors (TKI) treatment. Methods: The clinical data of 28 CML patients with CCA/Ph^- treated in Henan Cancer Hospital from July 2014 to December 2017 were analyzed retrospectively. The univariate analysis was carried out by Kaplan-Meier method. Multivariate analysis was done by Cox proportional risk model. Results: A total of 28 CCA/Ph^-patients were recruited including 17 males and 11 females with median age of 42.5 years old. The most common CCA/Ph^-were trisomy 8 (60.7%), monosomy 7 (14.3%). 64.3% CCA/Ph^-were transient and 35.7% recurrent (more than 2 times). Cytopenia in two or three lineages of peripheral blood was seen in 42.9% patients. As to the efficacy, 89.3% patients achieved major cytogenetic response (MCyR), 25% with major molecular response (MMR). The median follow-up time was 26.5 months. Treatment failure (TF) of TKI occurred in 32.1% patients with median duration of response 8 (1-41) months. Univariate analysis showed that TF rate was significantly correlated with the frequency of CCA/Ph^-and cytopenia (all P<0.05). The MMR rate was also significantly correlated with cytopenia (P<0.05). Cytopenia of two lineages or pancytopenia was an independent risk factor related to MMR rate (RR=3.868, 95%CI 1.216-12.298, P=0.022) . Conclusions Cytopenia in CCA/Ph^-appears to be an independent risk factor of MMR in CML patients with TKI treatment. The recurrent CCA/Ph^-may link to higher treatment failure rate. Drug withdrawal or alternative strategy should be considered according to response and the ABL kinase mutations.

Objective To investigate the imaging appearance of CT and MRI in retroperitoneal dedifferentiated liposarcoma ( DDL ) based on pathological findings. Methods Twelve patients with retroperitoneal DDL ( 13 lesions) who were surgically and pathologically confirmed were retrospectively collected in the Cancer Hospital of Chinese Academy of Medical Sciences. The correlation of CT and MRI features with histopathologic findings was analyzed. Results The CT and MRI images of retroperitoneal DDLs were large, heterogeneous soft?tissue masses, mostly lobulated (30.8%, 4／13) or multinodular (46.2%, 6／13), invading adjacent anatomic structures (46.2%, 6／13).The lesions contained different proportions of fatty and non?fatty components, and usually with clear boundaries. The CT images of dedifferentiated components showed non?fatty masses of soft tissue density or mixed density, among which ground?glass nodules may be related to mucinous components. Occasionally calcification or ossification was seen (45.5%, 5／11). The contrast?enhanced CT and MRI images of non?fatty components commonly showed intense heterogeneous enhancement ( 84.6%, 11／13), central cystic changes and necrosis ( 61.5%, 8／13 ), pathologically corresponding to multiple types of soft tissue sarcomas without significant specificity. The well?differentiated components were fatty masses with irregular fibrous septa or soft tissue nodules, which is pathologically corresponding to well differentiated liposarcoma. Lymph node or distant metastasis was rare. Conclusions The imaging manifestations of retroperitoneal DDLs are diverse and closely related to the proportion and distribution of different components. CT, MRI and contrast?enhanced imaging has a certain diagnostic value for retroperitoneal DDLs.

Objective To investigate the imaging appearance of CT and MRI in retroperitoneal dedifferentiated liposarcoma ( DDL ) based on pathological findings. Methods Twelve patients with retroperitoneal DDL ( 13 lesions) who were surgically and pathologically confirmed were retrospectively collected in the Cancer Hospital of Chinese Academy of Medical Sciences. The correlation of CT and MRI features with histopathologic findings was analyzed. Results The CT and MRI images of retroperitoneal DDLs were large, heterogeneous soft?tissue masses, mostly lobulated (30.8%, 4／13) or multinodular (46.2%, 6／13), invading adjacent anatomic structures (46.2%, 6／13).The lesions contained different proportions of fatty and non?fatty components, and usually with clear boundaries. The CT images of dedifferentiated components showed non?fatty masses of soft tissue density or mixed density, among which ground?glass nodules may be related to mucinous components. Occasionally calcification or ossification was seen (45.5%, 5／11). The contrast?enhanced CT and MRI images of non?fatty components commonly showed intense heterogeneous enhancement ( 84.6%, 11／13), central cystic changes and necrosis ( 61.5%, 8／13 ), pathologically corresponding to multiple types of soft tissue sarcomas without significant specificity. The well?differentiated components were fatty masses with irregular fibrous septa or soft tissue nodules, which is pathologically corresponding to well differentiated liposarcoma. Lymph node or distant metastasis was rare. Conclusions The imaging manifestations of retroperitoneal DDLs are diverse and closely related to the proportion and distribution of different components. CT, MRI and contrast?enhanced imaging has a certain diagnostic value for retroperitoneal DDLs.