Association between exposure patterns of adverse childhood experiences and anxiety symptom trajectories in medical college students / 中华预防医学杂志

Objective: To analyze the association between exposure patterns of adverse childhood experiences (ACEs) and anxiety symptom trajectories in medical college students. Methods: A survey was conducted on first-year students from Anhui Medical College and Anqing Medical College, using the Childhood Abuse Questionnaire, Family Disability Questionnaire, Childhood Adverse Social Experience Item, and Anxiety Self Rating Scale. The baseline survey was conducted from November to December 2019, and two follow-up visits were conducted once every six months until November to December 2020. The latent class analysis (LCA) was used to analyze the exposure patterns of ACEs. The latent class growth analysis (LCGA) was used to analyze the development trajectory of anxiety symptoms. The multiple logistic regression model was used to analyze the correlation between different exposure patterns of ACEs and the trajectory of anxiety symptom trajectories. Results: A total of 3 662 college students aged (19.2±1.0) were surveyed. The LCA showed that the exposure patterns of ACEs could be divided into the "high ACEs" group (13.4%), "high neglect/emotional abuse" group (25.7%), "high family dysfunction" group (6.9%), "high neglect" group (27.1%), and "low ACEs" group (26.3%). The LCGA divided anxiety trajectories into four groups: "high anxiety decline" (7.1%),"anxiety increase "(4.1%), "moderate anxiety"(52.9%), and "low anxiety"(35.9%). Using the low ACEs group as a reference group, compared with the low anxiety trajectory, the high ACEs group, high neglect/emotional abuse group, high family dysfunction group, high neglect group, and medium to high-level anxiety trajectory were all associated with an increased risk (P<0.05). Conclusion: There is heterogeneity in ACEs exposure patterns among medical college students, and ACEs exposure patterns are important influencing factors for anxiety symptom trajectories.

Clinical Analysis of Pulmonary Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To study the clinical, imaging, and pathological features of pulmonary lymphoma.@*METHODS@#Patients with pulmonary lymphoma diagnosed by lung biopsy in Zhongda Hospital Affiliated to Southeast University from November 2013 to December 2020 were collected and divided into secondary pulmonary lymphoma (SPL) group and primary pulmonary lymphoma (PPL) group according to the primary site of lymphoma. The clinical characteristics, stages, imaging features, diagnostic methods and pathological types of the two groups were analyzed.@*RESULTS@#A total of 22 patients were included, 10 cases were PPL and 12 cases were SPL. The main symptoms of the two groups were cough, dyspnea and chest pain. The proportion of stage III/IV patients and international prognostic index (IPI) in SPL group were significantly higher than those in PPL group (P<0.05). Chest high-resolution computed tomography (HRCT) mainly showed masses, nodules and consolidation in both groups. The proportions of single mass and air bronchial sign in PPL group were significantly higher than those in SPL group, while the proportions of multiple nodules, mediastinal/hilar lymphadenopathy and pleural effusion were significantly lower (P<0.05). The max standardized uptake value (SUVmax), peak standardized uptake value (SUVpeak), total lesion glycolysis (TLG) and metabolic tumor volume (MTV) of 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) in PPL group were lower than those in SPL group, but the differences were not statistically significant (P>0.05). In PPL group, 8 cases were diagnosed by transbronchial lung biopsy (TBLB) and 2 cases by percutaneous lung puncture. In SPL group, 4 cases were diagnosed by TBLB, 7 cases by percutaneous lung puncture, and 1 case by surgery. 95.5% patients were diagnosed by non-surgical methods. The main pathological type of PPL was mucosa-associated lymphoid tissue (MALT) lymphoma, while that of SPL was diffuse large B-cell lymphoma (P<0.05).@*CONCLUSION@#The clinical symptoms of pulmonary lymphoma are nonspecific, but the chest HRCT has characteristic manifestations, which can also help to distinguish between SPL and PPL. 18F-FDG PET/CT is also a potential method to distinguish between SPL and PPL. TBLB and percutaneous lung puncture biopsy are reliable methods for the diagnosis of lung lymphoma. The main pathological type of PPL is MALT lymphoma, while that of SPL is diffuse large B-cell lymphoma.

Adrenal intravascular large B-cell lymphoma: report of 1 case and review of literature / 白血病·淋巴瘤

Objective:To investigate the diagnosis and treatment of intravascular large B-cell lymphoma (IVLBCL).Methods:The clinical data of 1 patient with adrenal IVLBCL in Zhongda Hospital Southeast University in May 2020 were retrospectively analyzed, and the relevant literature was reviewed.Results:The patient was an elderly male with recurrent fever of unknown cause at initial stage, and was finally diagnosed as adrenal IVLBCL based on the results of laboratory, imaging and adrenal biopsy at different stages. After multiple courses of R-COP in combination with Bruton tyrosine kinase (BTK) inhibitor, the patient achieved complete remission.Conclusions:IVLBCL is rare and it lacks specific clinical symptoms. PET-CT and pathological biopsy can help in the diagnosis of it. R-COP combined with BTK inhibitor is effective in the treatment of biphenotype IVLBCL.

Clinical and Cytogenetical Characteristics in Acute Myeloid Leukemia with Myelodysplasia-Related Changes / 中国实验血液学杂志

OBJECTIVE@#To explore the clinical and cytogenetic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) based on morphology define.@*METHODS@#A total of 180 newly diagnosed acute myeloid leukemia (AML) patients were enrolled and retrospectively analyzed, and marrow cell morphology of 126 patients were re-evaluated. The clinical and cytogenetic characteristics, including ages, sex, WBC count, HGB level, PLT count, blasts percentage, abnormal karyotype detection rate of the patients in AML with multilineage dysplasia (AML-MRC-1), secondary AML from myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) (AML-MRC-2), and AML not otherwise specified (AML-NOS) groups were investigated.@*RESULTS@#There was no significant differences between the patients in three groups in terms of sex, age and platelet count (P=0.898, P=0.365, P=0.853), but AML-MRC-2 group (73.2%) was higher than AML-MRC-1 (60.0%) and AML-NOS (56.4%) in the percentages of patients over 60 years old (P=0.228); there were statistically significant differences on WBC count, HGB level, and blasts percentage (P=0.000, P=0.022, P=0.000, AML-MRC-2

Diagnosis and prognosis of adrenocortical carcinoma in children / 中国肿瘤临床

Objective: To summarize the diagnosis and prognosis of adrenocortical carcinoma in children. Methods: Medical records of 10 pediatric patients with adrenocortical cancer treated in Children's Hospital of Nanjing Medical University from September 2010 to March 2018 were retrospectively reviewed, and their clinical manifestation, laboratory, auxiliary, and pathological examination results, and prognosis were analyzed. Results: The average age of all patients (5 male and 5 female pediatric patients) was (53.3+48.4) months. Clinical mani-festations included abdominal mass, hypertension, cortisol level, and peripheral precocious puberty. Laboratory tests showed that lactate dehydrogenase, neuroenolase, and cortisol levels were high in some patients, and sex hormones were abnormal. Auxiliary examination using the abdominal computed tomography enhancement showed irregular an adrenal gland, uneven density, necrosis, mass calcification, and some infiltration into the surrounding tissue. Pathological examination suggests tumor cell pleomorphism, more frequent pathological division, high mitotic index, abundant interstitial sinusoid, necrosis, tumor infiltration, vascular invasion, and Weiss score of≥3 points. Lactate acid dehydrogenase and cortisol levels; Weiss score; and tumor size, staging, and resection rate were not statistically different among prognostic factors. Conclusions: For pediatric patients with adrenal masses, the survival rate should be improved by combining the clinical manifestation, laboratory examination, and auxiliary examination for the early diagnosis of adrenocortical carcinoma and to select the appropriate treatment. Combined with pathological results, adrenocortical carcinoma can be well differentiated from other adrenal masses.

Effects of enhancer of Zeste homolog 2 inhibitor GSK126 on the cell proliferation and apoptosis of acute leukemia and lymphoma cells in vitro / 白血病·淋巴瘤

Objective To investigate the effects of a novel enhancer of Zeste homolog 2 (EZH2) inhibitor GSK126 in vitro on the cell proliferation and apoptosis in acute leukemia and lymphoma cells. Methods CCKˉ8 assay was used to measure the effects of GSK126 with different concentrations and time on the cell proliferation in human Tˉcell acute lymphoblastic leukemia (TˉALL) CEM cell line, acute monocytic leukemia U937 cell line and Burkitt lymphoma Raji cell line. Annexin V/PI double staining method was used to determine the effects of GSK126 on the cell apoptosis. The effect of GSK126 on the mRNA levels of EZH2, bclˉ2 and bclˉxL were measured by using quantitative polymerase chain reaction (qPCR). Results After the function for 24 h, 48 h and 72 h, compared to the negative control group (0 μmol/L), 5, 10, 15, 20, 25 μmol/L GSK126 treatment showed a significant doseˉand timeˉdependent cell proliferation suppression in CEM cells; 5, 10, 15, 20 μmol/L GSK126 treatment showed a significant doseˉand timeˉdependent cell proliferation suppression in U937 cells; 5, 10, 15, 20, 25, 30 μmol/L GSK126 treatment showed a significant timeˉdependent suppression in Raji cells (all P< 0.05). The 48 h 50% inhibitory concentration ( IC 50) of GSK126 on CEM, U937, Raji cells was (13.46 ±0.83), (11.65 ±1.02), (15.00 ±0.19) μmol/L, respectively. GSK126 treatment with the doses of 8, 12 and 16 μmol/L promoted the apoptosis of CEM and U937 cells compared with the negative control group (0 μmol/L), and there were statistical differences in the apoptosis rate (F＝ 167.995, P< 0.01; F＝ 158.400, P< 0.01). In Raji cells, only 16 μmol/L GSK126 treatment had a higher cell apoptosis rate compared with the control group (t＝ 47.998, P< 0.05). Furthermore, 8, 12 and 16 μmol/L GSK126 treatment suppressed the expressions of EZH2 mRNA in CEM, U937 and Raji cells compared with the control group (F＝82.035, P<0.01; F＝ 252.712, P< 0.01; F＝ 690.536, P< 0.01), and the expressions of bclˉ2 and bclˉxL mRNA (bclˉ2: F＝ 1 900.525, P< 0.01; F＝ 431.324, P< 0.01; F＝216.184, P<0.01; bclˉxL: F＝256.751, P<0.01; F＝147.019, P<0.01; F＝209.325, P<0.01). Conclusion EZH2 plays an important role in the occurrence and development of acute leukemia and lymphoma. GSK126 as a high selective inhibitor of EZH2 might be a potential new drug in treatment of hematological malignancies.

Characteristics and Clinical Significance of RAG1 Expression in Adult B-Cell Acute Lymphoblastic Leukemia / 中国实验血液学杂志

OBJECTIVE@#RAG1 plays important roles in lymphopoiesis and immune system, its dysfunction may result in the malignancies of hemopoietic system. The aim of this study was to investigate the characteristics of RAG1 expression in adult B-cell acute lymphoblastic leukemia (B-ALL), and to analyze the clinical significances.@*METHODS@#Quantitative PCR (q-PCR) was performed to evaluate the expression of RAG1 in 104 newly diagnosed, 22 relapsed adult B-ALL patients and 30 normal controls, the clinical significances of RAG1 expression were analyzed.@*RESULTS@#Compared with normal controls, newly diagnosed and relapsed adult B-ALL patients showed higher RAG1 expression level (3.94 vs 1.23) (P＜0.01), (5.86 vs 1.23) (P＜0.01). The analysis of paired simples from 6 cases of newly diagnosed and relapsed B-ALL showed that the expression level of RAG1 at relapse was significantly higher than that at new diagnosis (13.65 vs 2.31) (P＜0.01). The RAG1 expression level in IK6 positive patients was higher than that in IK6 negative patients (5.30 vs 2.11) (P＜0.05). The ratio of patients with LDH＞1 000 U/L in RAG1 high expression group was higher than that in RAG1 low expression group (42.2% vs 20.5%) (P＜0.05).@*CONCLUSION@#RAG1 up-regulation may play an important role in the development of adult B-ALL especially when relapsed, which may also take part in the formation of Ik6. Monitoring RAG1 expression may provide a new method to evaluate the prognosis of adult B-ALL patients.

The application of penile base staggered flap in the operation of severe hypospadias with penoscrotal transposition / 中华整形外科杂志

Objective@#To explore the application of penile base staggered flap in the operation of severe hypospadias with penoscrotal transposition.@*Methods@#Twenty-three cases with severe hypospadias with penoscrotal transposition were corrected by urethroplasty and staggered flap plasty in our department from May 2013 to June 2016. After urethroplasty, the skin at the junction of the penile base and scrotum was transversely cut by 1.5-2.0 cm, and then sutured with Z-plasty to reconstruct the angle of the penis and scrotum.@*Results@#After the operation, infection and cracking at the suture of the staggered flap occurred in one child and was cured after dressing change and symptomatic treatment. Two cases suffered from urine leakage at the suture of the staggered flap. One of the cases realized self-healing and the other received a repair operation for urinary fistula. Three children suffered coronary sulcus fistula and was cured by urethroplasty. All the patients were followed up from 10 to 30 months with normal penis scrotal position and satisfactory appearance.@*Conclusions@#The application of penile base staggered flap can be used for severe hypospadias in one stage with penoscrotal transposition surgery. It is a simple and satisfactory method for the treatment of hypospadias with penoscrotal transposition.

Characteristics and clinical significance of phosphatase and tensin homolog mutations in adult T-cell acute lymphoblastic leukemia / 白血病·淋巴瘤

Objective@#To detect the characteristics of phosphatase and tensin homolog (PTEN) mutations in adult T-cell acute lymphoblastic leukemia (T-ALL) and its relationship with the prognosis.@*Methods@#Fifty-five adult T-ALL patients were enrolled in Jiangsu Province Hospital from February 2010 to April 2016. Mononuclear bone marrow cells were extracted by using Ficoll density gradient centrifugation. Genomic DNA was extracted from isolated mononuclear cells. Amplified exon 1-9 of PTEN by polymerase chain reaction (PCR) specifically amplified PTEN exon, then DNA was purified, sequenced and compared. The mutation occurrence rate, mutation types, and the relations with several clinical indicators were analyzed.@*Results@#PTEN mutations were detected in 5 patients, and 8 types of mutations were detected in 55 T-ALL patients with mutation rate of 9.1% (5/55). All the mutations were located in exon 7 of the genes. Five patients with PTEN mutations also merged other gene mutations like NOTCH1 and DNM2. The level of median lactate dehydrogenase (LDH) in patients with PTEN mutations was higher than that in patients without PTEN mutations (3 358 U/L vs. 755 U/L, Z=-2.014, P= 0.044). No significant differences were found in gender, age, white blood count, hemoglobin, platelet count, overall survival rate, event free survival, recurrence free survival between the two groups (P > 0.05).@*Conclusion@#PTEN is a tumor suppressor gene, and its mutation plays a significant role in the occurrence and development of adult T-ALL patients, which may be associated with the poor prognosis.

Acute eosinophilic leukemia transformed from myelodysplastic syndrome: a case report and literature review / 临床检验杂志

Objective To summarize and explore the morphological characteristics,genetic alterations,immunophenotype and characteristics of molecular marker of acute eosinophilic leukemia (AEL),and improve the awareness for AEL.Methods A case of refractory hematopoietic dysplasia (MDS-RCMD) transformed to AEL in our hospital was retrospectively reviewed.Results The MDS-RC-MD patient transformed to AEL in 12 months after diagnosis.In his special bone marrow 10.4％ was blasts,while 70.8％ of bone marrow cells were eosinophils including 69.3％ of promyelocyte,myelocyte and metamyelocyte.Eosinophils accounted for 13.5％ in his peripheral blood.The blasts in bone marrow expressed CD34,CD117,HLA-DR,CD33,CD38 and CD13,and accompanied by complex chromosomal abnormalities.FI1L1/PDGFRα and ETV6/PDGFRβ fusion gene were negative.The patient died two months later following treating with AML regimen.Conclusion The AEL patient with negative FI1L1/PDGFRα and ETV6/PDGFRβ gene rearrangement,imatinib treatment is ineffectual.

miR-885-3p regulates radiosensitivity of colorectal cancer cell HT-29 by targeting AKT1 / 中华放射医学与防护杂志

Objective To investigate the effect and mechanism of miR-885-3p on the radiosensitivity of colorectal cancer cell HT-29. Methods The expression of miR-885-3p in HT-29 cells irradiated with different doses (0, 2, 4, 6, 8 Gy) of X-rays was detected by qPCR. The effect of miR-885-3p in modulating cell radiosensitivity was assessed in HT-29 cells with miR-885-3p overexpression. Bioinformatics prediction and dual luciferase reporter gene assay were employed to identify the direct target gene of miR-885-3p. Relationship between miR-885-3p and target gene tyrosine kinase 1 (AKT1) was investigated via regulation of miR-885-3p expression. The effect of AKT1 on radiosensitivity in HT-29 cells was evaluated through knockdown AKT1. The effect of AKT1 on miR-885-3p-induced radiosensitivity was detected by co-transferring miR-885-3p and AKT1 gene into HT-29 cells. Results miR-885-3p expression was up-regulated in radiation-induced HT-29 cells (F=46. 64, P<0. 05). Over-expression of miR-885-3p and knockdown of AKT1 enhanced cell radiosensitization by inhibiting survival and promoting apoptosis (t=12. 33, 12. 95, P <0. 05) with SER of 1. 602 and 1. 946, respectively. Inhibition of miR-885-3p promoted radioresistance by increasing cell survival and inhibiting apoptosis (t=11. 94, P<0. 05) with a SER of 0. 839. AKT1 is a target gene downstream of miR-885-3p, overexpression of AKT1 reversed the effect of miR-885-3p on cell radiosensitivity with a SER of 0. 680. Conclusions miR-885-3p can enhance the radiosensitivity of colorectal cancer HT-29 cells by directly targeting AKT1, which provides a target for improving the radiosensitivity of clinical colorectal cancer.

Diagnosis,treatment and prognosis of adrenal tumor in children / 中华实用儿科临床杂志

Objective To analyze the prognostic factors of adrenal tumor in children under 12 years of age. Methods A total of 90 children with 97 adrenal tumors admitted from June 2006 to August 2017 were selected in Children's Hospital of Nanjing Medical University.The age distribution,tumor type,biochemistry and tumor indicators, treatment,stage classification and prognosis were analyzed.Results There were 46 males and 44 females in 90 cases. Ages ranged from 4 days to 11 years and 1 month,with an average of (38.1 ± 31.3)months.The main clinical mani-festations were abdominal mass,fever and abdominal pain.Eighty cases (82.5%)underwent surgery,while 17 cases (17. 5%)did not.Open resection was performed in 48 cases,open partial resection in 11 cases,laparoscopic surgery in 10 cases,and just biopsy in 11 cases.The pathological examination showed 43 cases with neuroblastoma,13 cases with ganglioneuroblastoma,8 cases with ganglioneuroma,5 cases with adrenocortical carcinoma,3 cases with teratoma,1 case with pheochromocytoma,1 case with malignant rhabdoid tumor.Statistical analysis revealed that neuron－specific eno-lase(NSE)value of neuroblastoma and lactate dehydrogenase(LDH)value of cortical cancer increased significantly. The age was correlated with tumor stage,and patients had older age on stage Ⅳ.Complete resection in surgery was correlated with the stage of the tumor,as tumor in lower tumor stage seemed easier to be completely removed.Fifty－three cases (58.9%)were followed up for 2 months up to 11 years and 4 months.Forty－four cases survived and 9 ca-ses died.Higher tumor stage predicated worse prognosis.Conclusions Adrenal gland tumors need early diagnosis and active treatment.Earlier onset of age,complete surgical resection with patients have better prognosis.Complete resection of the disease was a key factor in the prognosis.

Experience of Professor LI Ying-cun in Using Dunhuang Zisu Decoction for Treating Pediatric Internal Injury Cough / 中国中医药信息杂志

Professor LI Ying-cun believes that pediatric internal injury cough is due to the weakness of lung and spleen and endogenous phlegm. The lung loses dispersing and descending to retrograde and cause cough; spleen deficiency produces phlegm to exist in the lung. The children have delicate organs need strengthening the body resistance, dispersing lung and invigorating spleen, supplementing qi and consolidating the exterior.ZisuDecoction is one of the TCM prescriptions that found from Dunhuang ancient medical prescriptions. Professor LI Ying-cun flexiblely uses this ancient prescription in modern clinic, which has achieved good efficacy in treatment of pediatric internal injury cough.

Characteristics and clinical outcomes of elderly patients with acute lymphoblastic leukemia / 白血病·淋巴瘤

Objective To explore the differences in clinical and laboratory parameters between elderly and non-elderly patients with acute lymphoblastic leukemia (ALL).Poor prognostic factors in elderly patients were explored to guide the individualized treatment.Methods Two hundred and seventy-nine ALL patients were divided into two groups:elderly group with their age more than 60 years (60-79 years) and nonelderly group with their age less than 60 years (14-59 years).The differences in clinical and laboratory parameters,abnormal molecular genetics on related genes,including IKZF1,PAX5,NOTCH1,PHF6,SH2B3,LEF1,and JAK1,as well as the correlations with treatment response and clinical outcome were compared between the two groups.Results Males accounted for a smaller part in elderly group [42.9 ％ (21/49) vs.61.7 ％ (142/230),P =0.015].The percentage of B cell lineage ALL (B-ALL),Philadelphia chromosome positive (Ph+) and CD33 positive rate were higher in elderly group compared with those in non-elderly group [87.8 ％ (43/49) vs.70.4 ％ (162/230),P=0.009;47.8 ％ (22/49) vs.27.4 ％ (58/230),P=0.007;56.8 ％ (21/49) vs.39.0 ％ (64/230),P =0.049,respectively].While both lymphodenopathy and total complete remission (CR) rate gained the upper hand in non-elderly group [38.9 ％ (81/230) vs.20.0 ％ (9/49),P=0.016;91.3 ％ (178/195) vs.68.3 ％ (28/41),P＜ 0.001,respectively].Moreover,elderly group had lower 3-month,6-month,12-month and 24-month overall survival (OS) rates (64.6 ％ vs.84.4 ％,P=0.001;50.0 ％ vs.73.8 ％,P=0.001;29.2 ％ vs.52.4 ％,P=0.003;6.2 ％ vs.26.2 ％,P=0.003,respectively) than those of non-elderly group.No significant differences in mutation rates of PAX5,NOTCH1,PHF6,SH2B3,LEF1 and JAK1 were found (all P ＞ 0.05).Conclusions Compared with non-elderly ALL patients,elderly ones harbor their intrinsic characteristics which might give rise to inferior outcomes.As a consequence,more attention should be poured into treating this particular group of ALL patients to improve their prognosis.

Analysis of Clinical Characteristics and Therapeutic Efficacy in 61 Adult Patients with Acute Lymphoblastic Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and curative effect in 61 adult patients with acute lymphoblastic leukemia (ALL).</p><p><b>METHODS</b>The clinical data of 61 patients (≥15 years old) with ALL enrolled from January 2010 to December 2014 were studied retrospectively. The relationship between clinical characteristics and curative effect was analyzed. The univariate and multivariate analyses related with the overall survival (OS) and disease free survival (DFS) were conducted by using the method of COX regression analysis.</p><p><b>RESULTS</b>Forty-four patients obtained complete remission (CR) in all 61 cases. The total CR rate was 72.13%. Age of onset, WBC count at first visit, CNS involvement or not, status of myeloid antigen expression and Ph chromosome condition were the important factors affecting the CR rate (P<0.05). The 2 years OS rate of all the 61 cases was 28.13%, the median OS time was 11 months (95% CI 9.58-12.42). The 2 years OS rate and DFS rate of the 44 patients in CR were 39.57% and 34.29% respectively. As showed by univariate analysis, the age of onset, WBC count at first visit, whether achieved CR or not after induction chemotherapy, and whether accepted consolidation therapy or allo-HSCT therapy after CR were factors affecting the prognosis of adult ALL patients. The result of multivariate analysis showed that the older age (P=0.001), induction chemotherapy did not achieve CR (P=0.018) and patients did not received consolidation after CR(P=0.005) , all these were independent risk factors for DFS.</p><p><b>CONCLUSION</b>The CR rate after induction chemotherapy is high in adult ALL patients, but the OS rate is low. To achieve CR and to maintain consolidation treatment after CR may be helpful to improve the long-term survival.</p>

Recent progress in diagnosis and treatment of myelodysplastic syndromes / 白血病·淋巴瘤

The myelodysplastic syndromes (MDS), which are characterized by the presence of ineffective hematopoiesis and an increased risk of transformation to acute myeloid leukemia (AML), are a group of clonal disorders deriving from damage of the hematopoietic stem/progenitor cells. The 58th American Society of Hematology (ASH) Annual Meeting consists of 5 main subjects, includingchronic myelomonocytic leukemia (CMML) and MDS biology and treatment, higher risk MDS clinical studies, lower risk MDS clinical studies, predisposition and diagnosis of MDS, and prognostic and predictive utility of recurrent somatic mutations in MDS. This article will introduce some highlights of the oral reports in this meeting.

Characteristics and Clinical Significance of CRLF2 Mutations in Adult Acute Lymphoblastic Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>Cytokine receptor-like factor 2(CRLF2) plays an important role in the development of normal B lymphocytes, which can mediate early B cell proliferation and survival. The aim of this study was to investigate the mutations of CRLF2 and its clinical significance in adult patients with acute lymphoblastic leukemia(ALL).</p><p><b>METHODS</b>Exons of CRLF2 were amplified, then the DNA was purified and sequenced; the frequency, position, types and clinical significance of CRLF2 mutations were analyzed.</p><p><b>RESULTS</b>6 types of genetic alterations in CRLF2 were found, among them the R186S prompted better prognosis, while L86I, F232F and W255C associated with poor prognosis.</p><p><b>CONCLUSION</b>CRLF2 mutations may play an important role in the development and progressions of adult patients with ALL, and these genetic abnormalities may associate with clinical outcome.</p>

Mutation of IL-7R in Adult Patients with T-cell Acute Lymphoblastic Leukemia and Its Clinical Significance / 中国实验血液学杂志

<p><b>OBJECTIVE</b>Interleukin 7 (IL-7) and its receptor（IL-7R）are essential for normal T-cell development and homeostasis. This study was aimed to investigate the IL-7R mutation and its clinical significance in adult patients with adult acute lymphoblastic leukemia (ALL), particularly in T-ALL.</p><p><b>METHODS</b>The exons of IL-7R were amplified, cloned and sequenced in 144 adult patients with ALL; the frequency, position and lypes of IL-7R mutation were detected and their correlation with clinical features was analyzed.</p><p><b>RESULTS</b>7.3% of T-ALL and 1.1% of B-ALL showed somatic IL-7R mutations which located at exon 6 and exon 5, respectively. Moreover, the IL-7R mutation was associated with poor clinical outcome in adult ALL patients. Furthermore, the co-existence of IL-7R mutation with NOTCH1 mutations and/or PHF6 mutation in T-ALL was observed.</p><p><b>CONCLUSION</b>IL-7R mulation and its associated signaling pathways may play an important role in the pathogenesis of T-ALL.</p>

Onlay-tube-onlay urethroplasty used for one-stage repairing of severe hypospadias / 中华泌尿外科杂志

Objective To retrospectively analyze the efficacy of Onlay-tube-onlay urethroplasty used for one-stage repairing of severe hypospadias.Methods From May 2012 to October 2014, a total of 32 patients with severe hypospadias who underwent primary HR at Nanjing Medical University Affiliated Children Hospital were enrolled.Urethral opening was located in the penis and scrotum, and onlay-tube-onlay urethroplasty was performed in the patients who had severe penile curvature even after skin degloving. The average age was 2.8 years (7 months-13 years and 7 months), postoperative follow-up was 2 years and 1month on average ( 6 months -2 years and 11 months ), and clinical data including appearance, complications and uroflowmetry were documented.Results All of 32 surgeries were completed by one experienced pediatric urologist, and the urethral defect length was measured after penile curvature completely corrected.The postoperative complications included two cases of urinary fistula ( 6.25%) and 3 cases of urethral stricture (9.37%).Two cases of fistula were cured by one operation.Stricture of urethral external orifice was relieved after urethral dilation in 1 case, and another 2 cases underwent another operation.The straightening and appearance of penis were satisfactory and meatus was located at normal anatomical position postoperatively.Uroflow was shaped into bell or high platform.Conclusions Onlay-tube-onlay urethroplasty is a combination of Onlay and Duckeet surgery, with low complication rates.Fully stripping and preserving urethral plate decrease the occurrence of complications, especially stricture. Urethral plate transecting permitted penile straightening completely.Onlay-tube-onlay can be a good option for the patients with severe hypospadias.

Mutations of FBXW7 in Adult T-Cell Acute Lymphocytic Leukemia / 中国实验血液学杂志

<p><b>BACKGROUD</b>F-Box and WD40 domain containing protein 7 gene (FBXW7) is part of the E3 ubiquitin ligase complex that controls the turnover of various proteins including NOTCH1, c-MYC and Cyclin E.</p><p><b>OBJECTIVE</b>To investigate the mutations of FBXW7 gene in adult T-cell acute lymphoblastic leukemia (T-ALL).</p><p><b>METHODS</b>Exon 5-12 of FBXW7 were amplified, cloned and sequenced in 54 adult T-ALL patients; the frequency, position and types of FBXW7 mutation were analyzed; the co-existing of mutations with NOTCH1 and their relevant prognostic significance were explored as well.</p><p><b>RESULTS</b>FBXW7 mutations were identified in 11.1% of adult T-ALL patients. A total of 4 types of point mutations (R465H, R465L, R479P and R505C) and 1 deletion/insertion mutation were observed, and all of them located in WD40 domain of FBXW7. In addition, co-existing mutations with NOTCH1 were identified in 83.3% of patients with FBXW7 mutation. Notably, the co-existed NOTCH1 mutations, including 3 point mutations (L1574P, L1596H and L1600P) and 2 deletion/insertion mutations located in HD domain. Furthermore, patients with FBXW7 mutation only had significantly longer overall survival compared with those without mutation (P=0.049).</p><p><b>CONCLUSION</b>FBXW7 mutations may play an important role in NOTCH1 mediated pathogenesis in T-ALL.</p>