Clinical Features and Prognosis of Patients with Castleman's Disease / 中国实验血液学杂志

OBJECTIVE@#To analyze the clinical features and prognosis of patients with Castleman's disease (CD) and improve the diagnosis and treatment of CD.@*METHODS@#Clinical data of patients diagnosed with CD by pathological biopsy in Gansu Provincial Hospital from January 2009 to November 2020 were retrospectively analyzed. According to clinical classification, the patients were divided into two groups: UCD (unicentric CD) group (n=20) and MCD (multicentric CD) group (n=9). The clinical manifestations, laboratory examination, treatment regimens, pathological examination and follow-up data were statistically analyzed.@*RESULTS@#There were no significant differences in average age and gender ratio between UCD group and MCD group. In UCD patients, 80.0% were hyaline vascular type, and 20.0% were plasma cell type. In MCD patients, 33.3% were hyaline vascular type, 55.6% were plasma cell type, and 11.1% were mixed type. There was significant difference in pathological classification between the two groups (P=0.039). The UCD patients usually presented asymptomatic single lymph node enlargement with mild clinical symptoms, while the MCD patients were characterized by multiple superficial and deep lymph node enlargement throughout the body. The incidences of asthenia, splenomegaly, serous effusion in MCD group were higher than those in UCD group (P<0.05). Meanwhile, the incidences of anemia, hypoproteinemia, increased ESR, elevated serum globulin and elevated β2-microglobulin were significantly higher than those in UCD group too (P<0.05). There was no significant difference in the incidences of abnormal WBC, PLT and elevated LDH between the two groups (P>0.05). Among 20 patients with UCD, 13 cases reached complete remission (CR), 1 case achieved partial remission (PR). Among 9 patients with MCD, 3 cases received CR and 4 cases received PR.@*CONCLUSION@#Patients with CD requires pathological examination for diagnosis. Patients with UCD show mild clinical symptoms, good surgical treatment effect and good prognosis. Patients with MCD have diversified clinical manifestations and relatively poor prognosis, and these patients require comprehensive treatment.

Analysis of clinical phenotype and variant of RAG1 gene in a child with B-cell-negative Severe Combined Immunodeficiency / 中华医学遗传学杂志

OBJECTIVE@#To report on a child with B-cell-negative severe combined immunodeficiency (B-SCID) manifesting as fulminant myocarditis and carry out genetic testing for her.@*METHODS@#A child with B-SCID who presented at Fujian Maternity and Child Health Care Hospital on January 31, 2021 was selected as the subject. Whole exome sequencing was carried out for her. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The female infant had developed recurrent skin and lung infections soon after birth, and was admitted due to fulminant myocarditis. Serological examination has disclosed a remarkable reduction in immunoglobulins. Flow cytometric analysis revealed that her peripheral blood T and B lymphocytes and NK cells were significantly reduced. Whole exome sequencing revealed that she has harbored a homozygous c.C3007T (p.Q1003X) nonsense variant of the RAG1 gene, for which both of her parents were heterozygous carriers. The variant has not been recorded in normal population databases. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic.@*CONCLUSION@#A case of RAG1 gene associated B-SCID has been diagnosed. Above finding has enriched the spectrum of RAG1 gene variants and enabled early diagnosis and intervention of the disease.

Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescence in situ hybridization among children with sex chromosome mosaicisms / 中华医学遗传学杂志

OBJECTIVE@#To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms.@*METHODS@#A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared.@*RESULTS@#The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05).@*CONCLUSION@#No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.

Estimation of atmospheric environmental radiation capacity in an isotope industrial park / 中国辐射卫生

Objective To study and estimate the public dose constraint and the atmospheric radiation capacity of an isotope industrial park, and to provide a basis for management of radioactive effluent discharge in isotope industrial parks. Methods We collected the natural environment data, meteorological data, and population distribution and dietary data as well as the source terms of radioactive airborne effluents of an isotope industrial park. The public dose constraint value of the isotope industrial park was determined based on the natural environmental radiation hazard level. The atmospheric environmental radiation capacity of the industrial park was estimated by the all-pathways method. Results The public dose constraint value of the industrial park was 0.2 mSv/a. At the end of industrial park planning, the maximum individual effective dose to the public caused by airborne effluent discharge was 1.07×10−6 Sv/a, which accounted for 0.54% of the public dose constraint value. The proportions of discharges of airborne radionuclides to respective environmental radiation capacities ranged from 0.04% to 4.34%. Conclusion The determined public dose constraint value of the isotope industrial park can be used as the total radiation capacity of the regional atmospheric environment to constrain the discharge of radioactive effluents. The environmental radiation capacity of each radionuclide can be estimated by the all-pathways method considering the comprehensive impact of radionuclide discharges, which is suitable for the control and management of isotope production enterprises in industrial parks.

Application of Optical Genome Mapping Technology in Detecting Complex Chromosomal Rearrangement / 中山大学学报(医学科学版)

ObjectiveTo investigate the application of optical genome mapping （OGM） technology in detecting complex chromosomal rearrangement. MethodsWe recruited five patients who were diagnosed as complex chromosomal rearrangement at the Reproductive Medicine Center of the Sixth Affiliated Hospital of Sun Yat-sen University from January 2022 to June 2023. They underwent OGM， nanopore sequencing and pre-implantation genetic testing （PGT）. The results were compared with the results of karyotype and chromosomal microarray analysis （CMA）/ copy number variation sequencing （CNV-Seq）. ResultsOGM could detect translocation， invert inversion， and triplet translocation， which were consistent with the results of OGM and CMA/ CNV-Seq. But OGM could not detect Robertsonian translocation. ConclusionBecause of its ultra-long reads， OGM realizes the detection across repetitive regions， and it has great advantages when applied in patients with complex chromosome rearrangement or uncertain karyotype analysis. It can accurately locate breakpoints.

Progress of 125I seeds implantation technology in the treatment of malignant tumors / 中华核医学与分子影像杂志

125I seeds implantation for the treatment of various malignant tumors has been widely recognized in clinical practice in recent years. It has a wide application prospect and is an effective treatment method. With the development of ultrasound, CT, MR, endoscopy and three-dimensional (3D)-printing technology, the clinical application of 125I seeds implantation technology is progressing rapidly. This article summarizes its implementation methods, clinical applications and development trends.

Effect of Modified Chaihu Shugansan and Its Disassembled Formulas on ACE2- Ang （Ⅰ-Ⅶ）-MasR Axis in Rats with Myocardial Ischemia and Depression / 中国实验方剂学杂志

ObjectiveTo observe the effects of modified Chaihu Shugansan（CHSG） and its disassembled formulas on angiotensin-converting enzyme 2 （ACE2）-angiotensin （Ⅰ-Ⅶ） ［Ang （Ⅰ-Ⅶ）］-mitochondrial assembly receptor （MasR） axis in hyperlipidemic rats with myocardial ischemia and depression， and to explore the underlying mechanism of its prevention and treatment of myocardial ischemia and depression. MethodA total of 108 male SD rats were randomly divided into a normal group， a model group， a modified CHSG group （11.7 g·kg-1）， a Quyu Huatan disassembled formula group （4.05 g·kg-1）， a Shugan Xingqi disassembled formula group （3.15 g·kg-1）， a Jianpi Yangxue disassembled formula group （4.5 g·kg-1）， a fluoxetine group （0.001 8 g·kg-1）， a trimetazidine group （0.005 4 g·kg-1）， and a simvastatin group （0.001 8 g·kg-1）， with 12 rats in each group. The hyperlipidemia model with myocardial ischemia and depression was induced with a high-fat diet combined with injection of isoproterenol （ISO） and chronic unpredictable mild stress （CUMS） in rats in the model group and groups with drug intervention for eight weeks. The rats in each group with drug intervention were treated correspondingly by gavage from the first day of modeling， while those in the normal group and the model group received the same amount of normal saline. The behavioral changes of rats in each group were observed by open field test and forced swimming test. Left ventricular fractional shortening （LVFS） and left ventricular ejection fraction （LVEF） were measured by echocardiography. The serum levels of total cholesterol （TC）， triglyceride （TG）， low-density lipoprotein cholesterol （LDL-C）， and high-density lipoprotein cholesterol （HDL-C） were detected by the enzyme-labeled apparatus. Hematoxylin-eosin （HE） staining was used to observe the histomorphological changes of the heart. The serum levels of angiotensin Ⅱ （AngⅡ）， ACE2， and Ang（Ⅰ-Ⅶ） were detected by enzyme-linked immunosorbent assay （ELISA）. The protein and mRNA expression of ACE2 and MasR in the hippocampus and the heart was detected by real-time quantitative polymerase chain reaction （Real-time PCR） and Western blot. ResultCompared with the normal group， the model group showed reduced movement time， distance， and average speed in the central area of the open field （P<0.01）， prolonged immobility time of rats in the forced swimming test （P<0.01）， decreased LVFS and LVEF （P<0.01）， inflammatory exudation and disorderly arranged fiber in heart tissues， elevated serum levels of TC， LDL-C， AngⅡ， ACE2 and Ang（Ⅰ-Ⅶ）， diminished HDL-C （P<0.01）， dwindled mRNA and protein expression of ACE2 in the hippocampus and the heart and MasR in the hippocampus， and up-regulated mRNA and protein expression of MasR in the heart （P<0.01）. Compared with the model group， the modified CHSG group displayed increased movement time， distance， and average speed in the center area of the open field （P<0.01）， shortened immobility time in the forced swimming test （P<0.01）， increased LVFS and LVEF （P<0.01）， relieved heart injury， reduced serum levels of TC， LDL-C， AngⅡ， ACE2， and Ang（Ⅰ-Ⅶ）， elevated level of HDL-C （P<0.01）， up-regulated mRNA and protein expression of ACE2 in the hippocampus and the heart and MasR in the hippocampus， and down-regulated mRNA and protein expression of MasR in the heart （P<0.01）. Each disassembled formula could improve the above indexes to a certain extent （P<0.05， P<0.01）， but the effect of the whole formula was optimal. ConclusionThe modified CHSG and its disassembled formulas have the effects of resisting depression， improving myocardial injury， and reducing blood lipid. Due to the synergistic effects of stasis-resolving/phlegm-eliminating drugs， liver-smoothing/Qi-moving drugs， and spleen-tonifying/blood-nourishing drugs in the formula， the modified CHSG is superior to each disassembled formula in efficacy. Its mechanism may be related to the activation of the ACE2-Ang （Ⅰ-Ⅶ）-MasR axis.

Expression and Clinical Significance of Serum MiR-424 and MiR-765 in Multiple Myeloma / 中国实验血液学杂志

OBJECTIVE@#To investigate the expression and clinical significance of miR-424 and miR-765 in patients with multiple myeloma (MM).@*METHODS@#The eighty-one MM patients admitted to Sanya Central Hospital from January 2017 to July 2020 were divided into phase Ⅰ (n=16), phase Ⅱ (n=25) and phase Ⅲ (n=40) according to the international staging system, while they were divided into IgG type (n=46), IgA type (n=19), light chain type (n=10) and non secretory type (n=6) according to the results of immunotyping. Another 50 healthy normal persons in the same period were selected as the control group. The levels of serum miR-424, miR-765 and Cystatin C (Cys-C) were measured in each group. The diagnostic value of serum miR-424, miR-765 and Cys-C in MM was estimated by ROC curve. Pearson correlation was used to analyze the correlation between serum levels of miR-424, miR-765 and Cys-C in MM patients.@*RESULTS@#The serum levels of miR-424 (2.74±1.30 vs 0.85±0.26), miR-765 (2.05±0.82 vs 0.63±0.17) and Cys-C ［(2.18±0.86 vs 0.72±0.15) mg/L］ in MM group were significantly higher than those in control group (P<0.001). The serum levels of miR-424 (5.08±2.36 vs 1.12±0.34, 2.24±0.93), miR-765 (3.50±1.52 vs 0.74±0.20, 1.78±0.65) and Cys-C ［(3.81±1.30 vs 0.92±0.24, 1.68±0.55) mg/L］ in MM patients at stage Ⅲ were significantly higher than those in patients at stage Ⅰ and Ⅱ (P<0.001). Also the serum levels of the three molecules in phase II were significantly higher than those in phase I (P<0.001). The serum levels of miR-424 and miR-765 in MM patients at IgG type were significantly higher than those at IgA, light chain and non secretory types (P<0.001). ROC curve analysis showed that the area under the curve (0.952，95%CI: 0.890-0.993) was greatest for the combination of miR-424, miR-765 and Cys-C for diagnosis of MM, and its sensitivity and specificity were 95.0% and 87.2%. The results of correlation analysis showed that the serum levels of miR-424 and miR-765 were positively correlated with Cys-C (r=0.795，r=0.760).@*CONCLUSION@#The serum levels of miR-424 and miR-765 in MM patients are significantly increased in the pattern increasing with the progression of MM stage. Combined with Cys-C, miR-424 and miR-765 have high value in the diagnosis of MM.

Relationship between prostate apex depth and early recovery of urinary continence after laparoscopic radical prostatectomy / 北京大学学报(医学版)

OBJECTIVE@#To evaluate the relationship between recovery of urinary continence after laparoscopic radical prostatectomy (LRP) and preoperative prostate apex depth (PAD) on magnetic resonance imaging (MRI).@*METHODS@#We retrospectively analyzed 184 patients with pathologic confirmed prostate carcinoma who underwent LRP in Department of Urology, Peking University Third Hospital. All the patients received MRI examination before surgery. Membranous urethral length (MUL) was defined as the distance from the apex of prostate to the level of the urethra at penile bulb on the coronal image. PAD was defined as the distance from the apex of prostate to the suprapubic ridge line on sagittal MRI. PAD ratio (PADR) was defined as PAD/pubic height. All the patients received extraperitoneal LRP. The patients' reporting freedom from using safety pad (0 pad/d) were defined as urinary continence. Univariate and multivariate regression analyses were used to identify independent predictors of early continence recovery after LRP. Kaplan-Meier analyses and log-rank test were used to compare time to continence recovery between the groups.@*RESULTS@#For all the 184 patients, the average age was (69.0±7.7) years, the ave-rage mass index(BMI) was (25.07±3.29) kg/m2, and the pre-biopsy PSA was (16.80±21.99) g/L. For all the patients who underwent MRI preoperatively, the mean PV was (39.35±25.25) mL and the mean MUL was (14.0±3.7) mm. The mean PAD was (24.52±4.97) mm and the mean PADR was 0.70±0.14. The continence rate for all the patients after LRP was 62.0% and 96.2% in three months and one year. The patients achieving early continence recovery had significant smaller PV (P=0.049), longer MUL (P < 0.001) and higher PADR (P=0.005). Multivariate analysis revealed MUL (P < 0.001) and PADR (P=0.032) were predictors of continence recovery after LRP. Kaplan-Meier analyses and Log-rank test revealed that MUL (≥14 mm vs. < 14 mm, P < 0.001) and PADR (≥0.70 vs. < 0.70, P < 0.001), PV(< 50 mL vs. ≥50 mL, P=0.001) were all significantly associated with continence recovery.@*CONCLUSION@#MUL and PADR are independent predictors of early continence recovery after LRP. MUL, PADR and PV are significantly associated with recovery of urinary continence.

Influence of deep invasive tumor thrombus on the surgical treatment and prognosis of patients with non-metastatic renal cell carcinoma complicated with venous tumor thrombus / 北京大学学报(医学版)

OBJECTIVE@#To evaluate the impact of deep invasive tumor thrombus on the surgical complexity and prognosis of patients with renal cell carcinoma complicated with inferior vena cava tumor thrombus.@*METHODS@#We retrospectively reviewed the clinical data of 94 patients with non-metastatic renal cell carcinoma complicated with inferior vena cava tumor thrombus, who underwent surgical treatment in Peking University Third Hospital from January 2017 to June 2020. The patient's general condition, clinicopathological characteristics, surgery and survival information were collected. The patients were divided into two groups based on the intra-operative findings of tumor thrombus adhesion to the venous wall, of which 64 cases were in the deep invasive tumor thrombus (DITT) group and 30 cases were in the non-invasive tumor thrombus (NITT) group. Chi-square, t test and Mann-Whitney U test were used for categorical and continuous variables respectively. Kaplan-Meier plots and multivariable Cox regressions were performed to evaluate the influence of DITT on the prognosis of the patients with renal cell carcinoma with inferior vena cava tumor thrombus.@*RESULTS@#DITT significantly increase the difficulty of surgery for the patients with renal cell carcinoma with venous tumor thrombus, which was mainly reflected in the longer operation time (362.5 vs. 307.5 min, P=0.010), more surgical bleeding (1 200 vs. 450 mL, P=0.006), more surgical blood transfusion (800 vs. 0 mL, P=0.021), more plasma transfusion (200 vs. 0 mL, P=0.001), a higher proportion of open surgery (70.3% vs. 36.7%, P=0.002), a longer post-operative hospital stay (9.5 vs. 8 days, P=0.036), and a higher proportion of post-operative complications (46.9% vs. 13.8%, P=0.002). DITT was associated with worse overall survival of the patients with renal cell carcinoma with inferior vena cava tumor thrombus (P=0.022). Even in the multivariate analysis, DITT was still a poor prognostic factor for the overall survival of these patients [HR: 4.635 (1.017-21.116), P=0.047].@*CONCLUSION@#For patients with non-metastatic renal cell carcinoma with inferior vena cava tumor thrombus, DITT will significantly increase the difficulty of surgery, and may lead to poor prognosis.

Risk factors of renal sinus invasion in clinical T1 renal cell carcinoma patients undergoing nephrectomy / 北京大学学报(医学版)

OBJECTIVE@#To summarize the clinicoradiological characteristics of clinical T1 renal cell carcinoma patients and to investigate the risk factors of renal sinus invasion in cT1 renal cell carcinoma patients undergoing nephrectomy.@*METHODS@#A retrospective study was conducted in cT1 renal cell carcinoma patients from January 2016 to August 2019 in Department of Urology, Peking University Third Hospital, who underwent partial or radical nephrectomy by analyzing clinicopathological and radiological data. The influencing factors of renal sinus invasion for cT1 renal cell carcinoma were determined by χ2 test, Mann-Whitney U test and Logistic regression analysis.@*RESULTS@#A total of 507 patients were enrolled, including 354 males (69.8%) and 153 females (30.2%). The median age was 59 years and the median body mass index (BMI) was 25.5 kg/m2. Eighteen patients (3.6%) had gross hematuria preoperatively. The median tumor diameter was 3.5 cm. Three hundred twenty-two patients (63.5%) were staged clinical T1a and 165 cases (36.5%) were staged clinical T1b. The median R.E.N.A.L. score was 8. Three hundred fifty-nine patients (70.8%) had regular tumor border and 148 (29.2%) irregular. All the patients underwent surgical treatment, including 186 (36.7%) partial nephrectomy and 321 (63.3%) radical nephrectomy. Postoperative pathology showed seventy-five patients (14.8%) had renal sinus invasion, including 18 in cT1a (5.6%) and 57 in cT1b (30.8%). Univariate analysis showed that age (P=0.020), R.E.N.A.L. score (R value, E value, N value, P < 0.001) and tumor border (P < 0.001) were associated risk factors for cT1 renal cell carcinoma with renal sinus invasion. On multivariate binary Logistic analysis, R.E.N.A.L. score (P≤0.020) and irregular tumor border (P=0.001) were independent risk factors.@*CONCLUSION@#For cT1 renal cell carcinoma patients undergoing nephrectomy, about 15% had renal sinus invasion postoperatively. High R.E.N.A.L. score and irre-gular tumor border help predicting cT1 renal cell carcinoma renal sinus invasion.

A study on the value of the serial position effect combined with delayed recall of auditory verbal learning test in distinguishing elderly patients with different levels of cognitive impairment / 中华老年医学杂志

Objective:To explore the diagnostic value of the serial position effect combined with delayed recall of auditory verbal learning test in diagnosing the elderly patients with different levels of cognitive impairment.Methods:A total of 310 subjects were enrolled and divided into three groups: the normal control group(NC group, n=128), the mild cognitive impairment group(MCI group, n=133)and the mild Alzheimer's disease group(mild AD group, n=149)matched for gender, age and education level.Comprehensive neuro-psychological tests were performed on all subjects, and the Auditory Verbal Learning Test-Huashan version(AVLT-H)was used to analyze the serial position effect.Results:There were significant differences in the primacy effect of the second and third time of immediate recall, short-term and long-term delayed recall among the three groups( P<0.05), but no difference was found in the recency effect between the MCI and mild AD groups( P>0.05). The long-term delayed primacy effect combined with the short-term delayed recall showed a better validity to distinguish those elderly subjects with different levels of cognitive impairment than other memorial indexes, and the correlative sensitivity and specificity were 83.21% and 71.43%(NC group vs.MCI group), 85.71% and 92.86%(NC group vs.mild AD group), 66.67% and 75.57%(MCI group vs.mild AD group), respectively. Conclusions:The long-term delayed primacy effect combined with the short-term delayed recall can assist in distinguishing elderly patients with different levels of cognitive impairment.

Analysis of Metabolites and Metabolism Pathway of Tetrahydroxystilbene Glucoside in Rats with UHPLC-MS and Mass Defect Filter Method / 中国药房

OBJECTIVE：To analyze the metabolites of tetrahydroxystilbene glucoside （THSG）and speculate its metabolism pathway in rats. METHODS ：Male SD rats were randomly divided into plasma group （n＝3），urine group （n＝3），bile group （n＝3），and tissue group （n＝9）. Each group was given single dose of THSG 200 mg/kg intragastrically. Plasma samples 10，30 min and 1，1.5，2，4 h after medication ，the unrine 0-6 h after medication ，the bile 0-4 h after medication ，the tissue of heart ， liver，spleen，lung，kidney and stomach 30 min and 1，2 h after medication （3 at each time point ）were collected respectively.After precipitated with methanol ，the metabolites of samples were analyzed and identified by UHPLC-Q-Exactive Orbitrap MS and mass loss filtration （MDF）. Its metabolism pathway was speculated. RESULTS：In the blood ，urine，bile，heart，liver，spleen， lung，kidney，stomach samples ，6，7，11，1，5，1，3，4，4 metabolites were detected ，including two phase Ⅰ（hydrolysis， hydrogenation and hydroxylation ）metabolites，18 phase Ⅱ（glucuronic acid binding and sulfation ）metabolites. There were 12 glucuronic acid binding products. CONCLUSIONS：Most of the metabolites of THSG are found in bile ，mainly glucuronic acid binding products of phase Ⅱ metabolite THSG ； main metabolic pathways involve glucose hydrolysis ， hydrogenation， hydroxylation，glucuronic acid binding and sulfation.

Clinical Characteristics and Prognosis of Patients with Primary Bone Diffuse Large B-Cell Lymphoma / 中国实验血液学杂志

METHODS@#The clinical data of 15 patients with primary diffuse large B-cell lymphoma treated in our hospital from January 2013 to December 2020 were collected, the clinical data and prognosis of the patients were analyzed retrospectively.@*RESULTS@#The median age of the 15 patients was 59 (19-89) years old; among the patients, 7 were males and 8 were females, ostealgia was the initial symptom. The pathological types of the 15 patients were diffuse large B-cell lymphoma (DLBCL), 5 cases of Has type GCB subtype (5/15), and 10 cases of Non-GCB subtype (10/15). After 15 patients were diagnosed, 11 patients (11/15) received chemotherapy, 3 patients (3/15) received surgery, and 1 patient was untreated (1/15), median chemotherapy courses was 5 (1-9). 8 patients have achieved complete remission (8/15), 3 patients achieved partial remission (3/15), and 1 patient achieved stable disease (1/15), 1 patient was lost to follow-up (1/15), 1 patient was untreated (1/15), and 1 patient was progression of disease (1/15). Age, pathological subtype, sex, stage, β2-MG level, LDH level, and the using of rituximab were not correlated with the complete remission rate of the patients(P>0.05), while the IPI score was correlated with the recent complete remission rate (P<0.05). The median follow-up time was 19 (1-38) months, 10 patients survived, in which 6 cases were still in complete remission, and the median time to progression-free survival was 15 (1-38) months.@*CONCLUSION@#The first symptom of primary bone diffuse large B-cell lymphoma is bone pain, the main pathological subtype is Non-GCB, the optimal treatment is combined chemotherapy, and the IPI score is related to the prognosis of the treatment.

The Genotypes and Clinical Characteristics of Thalassemia on Children in Wuhan Region / 中国实验血液学杂志

OBJECTIVE@#To investigate the genotypes and clinical characteristics of thalassemia on children in Wuhan region.@*METHODS@#A total of 159 patients diagnosed as thalassemia in Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology from December 2017 to December 2019. The patients were retrospectively analyzed for their types of mutations, detection rates and clinical characteristics.@*RESULTS@#Among the 422 samples, 159 samples were finally diagnosed as thalassemia through genetic testing, the total detection rate was 37.68%. The detection rate of α, β and αβ-thalassemia was 17.30%, 20.14% and 0.24% respectively. Among α-thalassemia, αα/-SEA was the most common one, with a composition ratio of 68.49%(50/73), followed by αα/-α3.7 (19.18%), αα/-α4.2 (6.85%) and αα/ QS (1.37%). 9 types of β-thalassemia gene mutations were detected, and the most common three mutations were IVSII-654(C→T), with a composition ratio of 40.00%, CD41-42(-TTCT) (20.00%) and CD17(A→T)(16.47%). Two novel mutations of β-thalassemia, HBB: c.92-2A＞T and HBB:c.-23A＞G were detected. Among all the positive patients, 134 (84.28%) were 0-3 years old, 19 (11.95%) were 4-6 years old, and 6 (3.77%) were 7 years of age or older. There were 147 patients with mild anemia (92.45%), 11 patients with moderate anemia (6.92%), and 1 patients with severe anemia (0.63%). The MCV of 94(59.12%) patients was lower than 65 fL, and that of 51(32.08%) patients was between 65 fL and 80 fL, while 14(8.81%) patients was higher than 80 fL. MCV in β-thalassemia group was lower than that in α-thalassemia group, and the difference showed statistically significant (P<0.05).@*CONCLUSION@#The genotypes of thalassemia in children in Wuhan area are diverse, and most of them are mild thalassemia, and diagnosed under 3 years old. Children with β-thalassemia have smaller red blood cell volumes than those with α-thalassemia.

Steroidogenic acute regulatory protein-related lipid transfer 4 (StarD4) promotes breast cancer cell proliferation and its mechanism / 生物医学工程学杂志

Oncogene StarD4 had the function of promoting proliferation and metastasis of triple-negative breast cancer (TNBC), but its clinical value and molecular mechanism are unknown. This paper found that StarD4 was highly expressed in cancer tissues of TNBC patients, and higher expression level of StarD4 in TNBC patient resulted in poorer prognosis. Based on transcriptomics of MDA-MB-231 cell model, the results of bioinformatics analysis showed that down-regulated expression level of StarD4 led to overall downregulation of cholesterol-relative genes and significant enrichment of cancer mechanism and pathway. Further analysis and investigation verified that StarD4 might cross-promote the protein stability of receptor ITGA5 through the cholesterol pathway to enhance TNBC progression, which provides guidance for clinical application of TNBC diagnosis and treatment.

Expression of CD56 in Multiple Myeloma Cells and Its Relationship with Extramedullary Disease and Extramedullary Relapse / 中国实验血液学杂志

OBJECTIVE@#To investigate the expression of CD56 in multiple myeloma (MM) cells and its relationship between extramedullary disease and extramedullary relapse.@*METHODS@#Clinical data of 99 patients with MM treated in our hospital from January 2015 to December 2019 was retrospectively analyzed. The patients were divided into positive group and negative group according to the expression of CD56. The relationship between CD56 and multiple myeloma extramedullary disease, extramedullary relapse was analyzed.@*RESULTS@#Among 99 newly diagnosed patients with MM, the positive rate of CD56 was 65%, and the incidence of extramedullary disease of patients in the CD56 positive group was lower than that in the CD56 negative group (17.19% vs 48.57%) (P<0.01). Meanwhile, the incidence of extramedullary relapse of patients in the CD56 positive group was lower than that in the CD56 negative group (1.56% vs 34.29%) (P<0.01).@*CONCLUSION@#CD56 is highly expressed in MM, and its low expression is associated with the occurrence of extramedullary disease and extramedullary relapse, which suggests that CD56 may be an important indicator for predicting the occurrence of extramedullary disease and extramedullary relapse.

The Influence of Serum Homocysteine Level to the Prognosis of Newly Diagnosed Multiple Myeloma Patients and Analysis of Related Factors / 中国实验血液学杂志

OBJECTIVE@#To analyze the influence of serum homocysteine (Hcy) levels to the prognosis of newly diagnosed multiple myeloma (MM) patients, and to explore related factors affecting the prognosis of the patients.@*METHODS@#The clinical pathological data of 180 newly diagnosed MM patients treated in our hospital from March 2013 to February 2015 were collected, and the patients were divided into high and low Hcy groups based on the median Hcy. The survival curves of the patients in the two groups were drawn to compare the differences of the survival; univariate and multivariate survival analysis was used to observe the influence of serum cysteine to the prognosis of newly diagnosed MM patients; the clinicopathological data of the patients with high and low Hcy in the two groups was compared, Pearson test was used to further analyzes the relationship between Hcy and different factors, and explores the related factors of Hcy affecting the prognosis of the patients.@*RESULTS@#The median survival times of patients in the high and low Hcy groups were 32 (5-59) and 41 (7-71) months, respectively. The 3-year survival rate of the patients in high Hcy group was significantly lower than those in low Hcy group, and the difference shows statistically significant (P<0.05). The results of univariate survival analysis showed that the OS of newly diagnosed MM patients whom with advanced age, high bone disease grade, high-level bone marrow plasma cell count, LDH, C-reactive protein, Cr, β@*CONCLUSION@#Serum Hcy level has a correlation trend with the survival of newly diagnosed MM, which is affected by factors such as Hb.

Bioinformatics analysis and expression pattern of NAC transcription factor family of Angelica dahurica var. formosana from Sichuan province / 中国中药杂志

NAC(NAM/ATAF/CUC) protein plays an important role in plant growth and development, secondary cell wall formation and stress response. In this study, based on the sequencing data of Angelica dahurica, the NAC family was systematically analyzed using bioinformatics methods and its expression pattern was analyzed. Studies showed that 75 candidate genes had been selected from the NAC transcription factor family of A. dahurica, with the protein size of 148-641, all of which were unstable hydrophilic proteins. Most NAC proteins were localized in the nucleus, and had complete NAC domain. Phylogenetic analysis of NAC family proteins of A.dahurica and Arabidopsis thaliana showed that among the 17 subfamilies, NAC members were unevenly distributed in each subfamily, indicating that the evolution of species is developing in multiple directions. Among them, ANAC063 subfamily contained no NAC sequence of A. dahurica, which might be due to the functional evolution of the species. Analysis of protein transmembrane structure and signal peptide showed that NAC transcription factor could carry out transmembrane transportation, but its signal peptide function had not been found. Expression analysis showed that most transcription factors responded to abiotic stress and hormones to varying degrees, and the effects of hormones were obvious, especially ABA and IAA. In different organs of A. dahurica, most members of the NAC family had higher expression in root phloem, followed by root xylem. This study lays a foundation for further research on the function of A. dahurica NAC transcription factor and for solving the biological problems of A. dahurica.

Determination of methyl pentane in workplace air by solvent desorption-gas chromatography / 中国职业医学

OBJECTIVE: To establish a solvent desorption-gas chromatography method for determination of methyl pentane in workplace air. METHODS: Methyl pentane in workplace air was collected with activated carbon tube and desorbed with carbon disulfide, then separated by DB-1 capillary column, detected by flame ionization detector, and quantified by standard curve method. RESULTS: Good linearity was obtained in the range of 1.98-6 600.00 mg/L with the correlation coefficient of 0.999 9. The minimum detection limit and the minimum quantification limit were 0.06 and 0.20 mg/L, respectively. The minimum detection concentration and minimum quantification concentration was 0.04 and 0.14 mg/m~3, respectively(calculated by collecting 1.5 L of air sample). The average desorption efficiency was 97.3%-102.2%. The within-run relative standard deviation(RSD) and the between-run RSD were 0.4%-0.9% and 0.3%-3.0%, respectively. The sampling efficiency was 96.7%-100.0% and the penetration capacity was 8.68 mg. The samples can be stored at room temperature for at least 14 days. CONCLUSION: This method is suitable for methyl pentane detection in workplace air.