Objective To compare and analyze the efficacy and risks of percutaneous CT/ultrasound-guided bipolar radiofrequency ablation(RFA)under local anesthesia with robotic-assisted laparoscopic partial nephrectomy(RAPN)for the treatment of sporadic small renal mass.Methods A retrospective study was conducted on 93 consecutive patients with T1a stage small renal mass during Mar.2019 and Oct.2021.Among them,51 underwent RAPN,and 42 underwent RFA.General information,tumor characteristics,perioperative and follow-up data were collected and statistically analyzed.Results There were no significant differences in general information and tumor characteristics between the two groups(P＞0.05).The operation time[(96.0±20.0)min vs.(113.5±24.1)min,P＜0.001],hospital stay[(3.5±0.8)day vs.(6.9±1.8)day,P＜0.001],and hospital costs[(2.4±0.7)ten thousand yuan vs.(6.6±0.4)ten thousand yuan,P＜0.001]were significantly decreased in the RFA group than in the RAPN group.There were no significant differences in the incidence of perioperative complications and long-term disease-free survival rate between the two groups(P＞0.05).However,the difference between one-year postoperative estimated glomerular filtration rate(eGFR)and preoperative eGFR was significantly lower in the RFA group than in the RAPN group[-2.3(-4.7-1.3)mL/(min·1.73 m2)vs.-5.0(-9.1 2.8)mL/(min·1.73 m2),P=0.003],and the reduction of one-year postoperative creatinine and preoperative creatinine was slightly lower in the RFA group than in the RAPN group[4.0(-0.2-5.5)μmol/L vs.4.5(1.8-9.2)μmol/L,P=0.122].Conclusion RFA can achieve comparable disease-free survival rate as RAPN in the treatment of T1a renal tumor,and can effectively preserve renal function,reduce medical costs,save medical resources,and lower the incidence of perioperative complications.

Objective:To explore the effects of curcumin on the biological characteristics and expressions of NF-κB pathway-related proteins in glucocorticoid-resistant acute lymphoblastic leukemia (ALL) cell line Jurkat.Methods:The drug-resistant ALL cell line Jurkat was selected, and 1 μmol/L dexamethasone was used as the optimal concentration for drug resistance of Jurkat cells, and the cells were passaged and cultured. The cells were divided into 10, 25 and 50 μmol/L curcumin groups, as well as 50 μmol/L pyrrolidinedithiocarbamate (PDTC) group, and control group (equal volume of culture medium without drug was added). The cells in each group were cultured for 72 h, and the cell morphology was observed under an inverted microscope. The CCK-8 method was used to detect the proliferation ability of Jurkat cells, flow cytometry was used to detect the apoptosis ability and cell cycle of Jurkat cells, real-time fluorescence quantitative polymerase chain reaction (qRT-PCR) was used to detect the relative expressions of NF-κB p65, NF-κB p50, IκBα, and A20 mRNA, and Western blotting was used to detect the expressions of NF-κB p65, NF-κB p50, IκBα, caspase-8, caspase-3, bcl-2, and A20 proteins.Results:Jurkat cells were treated with 10, 25, 50 μmol/L curcumin and 50 μmol/L PDTC for 72 h. In the control group, the cell membranes were basically intact, the size was uniform, the cell was round and transparent, and the cell nucleus had uniform fluorescence; a large number of deformed cells and cell fragments were observed in curcumin groups with different concentrations and 50 μmol/L PDTC group, with concentrated and fragmented nuclei and obvious apoptosis. After treating Jurkat cells with different concentrations of curcumin and 50 μmol/L PDTC for 24, 48 and 72 h, respectively, the cell proliferation inhibition rates in curcumin groups with different concentrations and PDTC group were higher than those in the control group (all P < 0.01). The apoptosis rates at 72 h in the control group, 10 μmol/L curcumin group, 25 μmol/L curcumin group, 50 μmol/L curcumin group, and 50 μmol/L PDTC group were (4.9±0.1)%, (99.2±0.1)%, (99.9±0)%, (100.0±0)%, and (100.0±0)%, respectively, and the difference was statistically significant ( F = 2 876 604.40, P < 0.001); compared with the control group, the apoptosis rates in curcumin groups with different concentrations and 50 μmol/L PDTC group were higher, and the differences were statistically significant (all P < 0.01). Compared with the control group, the proportions of S-phase and G 2-phase cells were lower and the proportion of G 1-phase cells was higher in curcumin groups with different concentrations and 50 μmol/L PDTC group at 72 h, and the differences were statistically significant (all P < 0.01). Compared with the control group, the protein and mRNA expressions of NF-κB p65 and NF-κB p50 in curcumin groups with different concentrations and 50 μmol/L PDTC group were lower (all P < 0.01), while the protein expressions of IκBα, caspase-8 and caspase-3 were higher (all P < 0.01), the protein expression of bcl-2 was lower ( P < 0.01), and the protein and mRNA expressions of A20 were higher (both P < 0.01). Conclusions:Curcumin can effectively reverse glucocorticoid resistance and promote apoptosis in Jurkat cells, which may be related to the influence of curcumin on NF-κB pathway-related proteins.

BACKGROUND: LY01005 (Goserelin acetate sustained-release microsphere injection) is a modified gonadotropin-releasing hormone (GnRH) agonist injected monthly. This phase III trial study aimed to evaluated the efficacy and safety of LY01005 in Chinese patients with prostate cancer. METHODS: We conducted a randomized controlled, open-label, non-inferiority trial across 49 sites in China. This study included 290 patients with prostate cancer who received either LY01005 or goserelin implants every 28 days for three injections. The primary efficacy endpoints were the percentage of patients with testosterone suppression ≤50 ng/dL at day 29 and the cumulative probability of testosterone ≤50 ng/dL from day 29 to 85. Non-inferiority was prespecified at a margin of -10%. Secondary endpoints included significant castration (≤20 ng/dL), testosterone surge within 72 h following repeated dosing, and changes in luteinizing hormone, follicle-stimulating hormone, and prostate specific antigen levels. RESULTS: On day 29, in the LY01005 and goserelin implant groups, testosterone concentrations fell below medical-castration levels in 99.3% (142/143) and 100% (140/140) of patients, respectively, with a difference of -0.7% (95% confidence interval [CI], -3.9% to 2.0%) between the two groups. The cumulative probabilities of maintaining castration from days 29 to 85 were 99.3% and 97.8%, respectively, with a between-group difference of 1.5% (95% CI, -1.3% to 4.4%). Both results met the criterion for non-inferiority. Secondary endpoints were similar between groups. Both treatments were well-tolerated. LY01005 was associated with fewer injection-site reactions than the goserelin implant (0% vs . 1.4% [2/145]). CONCLUSION: LY01005 is as effective as goserelin implants in reducing testosterone to castration levels, with a similar safety profile. TRIAL REGISTRATION ClinicalTrials.gov, NCT04563936.
Humans ; Male ; Antineoplastic Agents, Hormonal/therapeutic use* ; East Asian People ; Gonadotropin-Releasing Hormone/agonists* ; Goserelin/therapeutic use* ; Prostate-Specific Antigen ; Prostatic Neoplasms/drug therapy* ; Testosterone

Clinical practice of Medical Genetics involves application of various genetic techniques for the diagnosis of genetic disorders and subsequent genetic counseling and treatment. The principles of Medical Ethics must be fully taken into account when applying genetic knowledge for medical practice. Medical Ethics education is therefore essential for the standardized training of resident doctors in medical genetics department. With a basic system of Medical Genetics Physician Training established, our hospital has made a preliminary exploration for the development of Medical Ethics teaching in resident training through various teaching practices including seminar, network teaching, case study, scene teaching and outpatient teaching, with an aim to strengthen Medical Ethnics knowledge, professionalism and communication skills, and implement Medical Ethics principles throughout clinical practice.
Curriculum ; Educational Status ; Ethics, Medical ; Genetics, Medical ; Humans

OBJECTIVE: To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age. METHODS: A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age. RESULTS: For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb). CONCLUSION Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Chromosome Aberrations ; Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies

OBJECTIVETo analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.

METHODSAmniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.

RESULTSAmong the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.

CONCLUSIONCMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.

Adolescent ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; genetics ; Fetus ; diagnostic imaging ; Humans ; Karyotyping ; Male ; Microarray Analysis ; methods ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal ; methods ; Young Adult

OBJECTIVETo assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.

METHODSPeripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.

RESULTSEighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).

CONCLUSIONCMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

Adolescent ; Adult ; Child ; Child, Preschool ; DNA Copy Number Variations ; Developmental Disabilities ; genetics ; psychology ; Female ; Humans ; Intellectual Disability ; genetics ; psychology ; Intelligence ; Karyotype ; Male ; Microarray Analysis ; Middle Aged ; Pedigree ; Young Adult

Objective:To compare the expression and biological activity of glucosyl transferases (GTFs)of Streptococcus mutans (S.mutans)under normal outside environment between high temperature requirment serine proteinase A(HtrA)-deficient strains and high virulent strains isolated from children with high cario-susceptibility.Methods:The HtrA-deficient strains and high virulent strains of S.mutans were obtained by preliminary study.The strains were reanimated and incubated in BHI medium to exponential phase at tenth hour.The expression of gtfB,gtfC and gtfD were detected by real-time RT-PCR.The biological activity of the GTFs were detected by entong sulfuric acid method and Western Blot.Results:The expression of gtfs and GTFs in the HtrA-deficient strains was higher than those of high virulent strains,but the biological activity of the GTFs was lower.Conclusion:The HtrA gene plays an important regulatory role in the process of the GTFs expression of S.mutans isolated from children with high cario-susceptibility.

Objective To investigate the clinical manifestations,treatment and prognosis of reversible posterior leukoencephalopathy syndrome (RPLS) after acute lymphoblastic leukemia chemotherapy.Methods The clinical and imaging data of one case with acute lymphoblastic leukemia were analyzed and literatures were reviewed.Results The main clinical presentation of the patient included abdominal distension,repeated fever with fatigue.Depend on the results of the blood routine test and bone marrow relative examinations,the patient was diagnosed as acute lymphoblastic leukemia pro-B cell high risk group.After the induction therapy and consolidation chemotherapy,hypertension and neurological symptoms were appeared.Combined with the imaging examination,it was diagnosed as RPLS.Recieved active treatment,the patient recovered completely,and the imaging test was improved rapidly.Conclusion The causes of RPLS are variety,and its clinical manifestations and imaging test are non-specific.RPLS has a favorable prognosis.The correct diagnosis and treatment are the key points.

Objective To investigate the clinical and pathological characteristics of normotensive pheochromocytomas ( NP) . Methods This retrospective study included 97 patients with a pathological diagnosis of pheochromocytoma at the Drum Tower Hospital Affiliated to Nanjing University Medical School during January 2004 to December 2013. All available clinical, biochemical, and radiological records were reviewed in these patients who were then categorized into hypertensive pheochromocytomas (HP) (n=64) and NP (n=33) groups. 97 cases of Adrenal Gland Scale Score of pheochromocytoma were examined, including tissue microscopic pathology assessment, ki67 and phenylethanolamine-N-methyltransferase ( PNMT ) immunohistochemistry and catecholamine type. Biochemical examinations of 95 subjects with primary hypertension ( PH) were recorded for comparative study. Results The patients with NP showed lower proportion of clinical triad than HP, inapparent metabolic disorders, and lower urinary catecholamine levels than HP, but showed higher results than primary hypertension. The weight of tumor was positively correlated with 24 hour urinary norepinephrine level in patients with HP(Y=1. 376+0. 653X,R2=0. 118, P=0. 028), but not in patients with NP;and the size or diameter of the tumor was negatively correlated with PNMT immunohistochemistry in patients with NP(Y=0. 940-0. 356X, R2=0. 494, P=0. 005), but not in patients with HP, indicating that NP may be misdiagnosed clinically. Conclusion Patients with NP have distinct clinical, biochemical, and pathological phenotypes; the phenotypic changes are closely related with the expression levels of catecholamine pathway products during the occurrence and development of the tumors.