Objective To investigate whether the single nucleotide polymorphisms (SNP) in DNA repair gene XRCC1(X-ray repair cross-complementing 1) were associated with the survival of cisplatin based combination concurrent chemoradiotherapy in esophagus cancer. Methods Overall 286 esophagus cancer patients receiving cisplatinum based chemotherapy were investigated. 5' nuclease allelic discrimination assay (TaqMan) and real-time PCR were taken to assess XRCC1 genotypes. Efficacies and adverse-effects were analyzed individually according to their genotype. Results Short-time effects showed the RR rate in patients with Arg/Arg and Arg/GIn genotypes(A group) was 93.56 %, significantly higher than 69.81% (P<0.05) in patients with GIn/GIn genotype (B group). The 1-year and 3-year survival rates were 82.8 %, 41.2 % in A group, significantly (P<0.05) different from 58.5 %, 26.4 % in B group, respectively. No statistically differences were found on adverse effects. Conclusion Significant relationships are found between single nucleotide polymorphisms in XRCC1 and outcome in esophagus cancer receiving cisplatin based concurrent chemoradiotherapy.

Objective To investigate the clinical characteristics of Turner syndrome in patients with spondyloarthropathy.MethodsSix patients from our hospital were included and the clinical manifestations,laboratory parameters and imaging presentations were analyzed retrospectively and the relevant literature were reviewed.ResultsThe mean age of these 6 cases was (27±5) years.Two cases were spondyloarthropathy,3 cases were ankylosing spondylitis,1 was psoriatic arthritis.Five cases were complicated with peripheral arthriris,2 cases were complicated with inflammatory back pain,4 cases had vertebral activity limitation,3 cases had joint deformity.The karyotype of 6 cases was 45,XO.Six cases were complicated with osteoporosis.Conclusion Turner syndrome can be presented with spondyloarthropathy,arthritis,osteoporosis.Dysplasia of bone is common.

Objective To investigate the application prospective of carboxyfullerene C_3 as a radioprotectant or assistant for tumor radiotherapy.Methods Different concentrations of C_3 were incubated with K562 and AHH-1 cell,CCK-8 assay and trypan blue rejection test were performed to examine the influence of C_3 on the cell viability.Annexin V/PI staining and flow cytometry assay were applied to assess the cell cycle and apoptosis after 7-ray irradiation.Results C_3 showed little toxicity to AHH-1 cell with the survival rate over 95% ,but 600 mg/L of C_3 markedly inhibited the growth of K562 cell (82%) .Pretreatment of 100 mg/L C_3 significantly increased the survival rate of AHH-1 cell after 4 Gy irradiation compared with the single radiation group(71.3% vs 90.3%) ,but decreased the apoptosis rate (26.3% vs 12.6%) ,while the survival rate of K562 cell was decreased and the apoptosis rate was elevated with the increase of C_3 concentration.Moreover,the cell cycle analysis revealed the G_2 phase block in AHH-1 cell after radiation exposure was mitigated by C_3 pretreatment,but that in K562 cell was aggravated.Conclusions C_3 has good radioprotective effects on AHH-1 cells.For K562 cell,C_3 could inhibit the cell proliferation,promote the radiation induced apoptosis and aggravate the G_2 phase block.

Objective:To explore the current status of mental workload and its relationship with work engagement and fatigue, as well as the impact path among the three.Methods:Clinical nurses from six tertiary hospitals including Shanghai Traditional Chinese Medicine Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, etc. were selected to conduct a cross-sectional survey using convenience sampling method from February to March 2020. They were investigated by general information questionnaire, NASA Task Load Index (NASA-TLX), Utrecht Work Engagement Scale (UWES), and Fatigue Scale-14 (FS-14).Results:The total mental workload score of 776 clinical nurses was 76.50(69.00, 84.00). Single factor analysis showed that clinical nurses of different ages, marriage and childbirth status, education level, professional title and working years had different mental workload ( Z = -2.61, H values were 10.22-22.41, all P<0.01). Bivariate analysis revealed that the mental workload of clinical nurses was positively correlated with work engagement ( r = 0.27, P<0.01) and fatigue ( r = 0.23, P<0.01), and work engagement and fatigue were negatively correlated ( r = -0.23, P<0.01). Mediation effect analysis demonstrated that mental workload had a positive predictive effect on fatigue ( β = 0.39, P<0.01) and work engagement ( β = 0.35, P<0.01); the suppressing effect of work engagement between mental workload and fatigue, the absolute value of the ratio of the suppressing effect to the direct effect was |-0.17/0.39|. Conclusions:The mental workload of clinical nurses is at relatively high level. Hospital administrators can partially improve the fatigue state of clinical nurses with high mental load through the adjustment effect of work engagement.

The pearly gallstone was discharged after Treatment with Magnetic Field (TMF). The pearly gallstones are measured with FT-IR spectrometer. The results demonstrate that mostly composition of this gall-stones is cholesterol and intermixture with some protean and inorganic calcium salt. Nature pearls is mostly composed with calcium carbonate. Their compositions are different. The pearly gall-stones show sandwich of cholesterol crystal in structure.

Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.

Objective To investigate the clinical characteristics of paraneoplastic syndrome with prominent osteoarticular involvement. Methods The clinical materials of 20 patients with paraneoplastic syndrome with prominent osteoarticular involvement were collected. The characteristics of clinical manifest-ations, laboratory tests and imagines were analyzed. Results Among the 20 patients, 16 were male and 4 were female, with a mean age of 44.5 years and a median course of 6 months. Ten cases were associated with hematological tumor and 10 cases were associated with solid tumor. Eleven cases presented as peripheral arthritis (7 cases of polyarthritis, 4 cases of oligoarthritis/monoarthritis), 5 cases presented with hypertrophic osteoarthropathy (HOA) and 4 cases presented with tumor-induced osteomalacia (TIO). Three cases were acute lymphocytic leukemia, 2 cases were multiple myeloma, 1 case was lymphoma, and 1 case was bone tumor in polyarthritis. Four oligoarthritis cases were all associated with acute lymphocytic leukemia. All 5 cases of HOA were associated with lung cancer. All 4 cases of TIO were associated with tumor of mesenchymal tissue. Extra-articular manifestations presented in 14 cases and inflammatory markers increased in 15 cases. anti-cyclic cirullinated peptide (anti-CCP) antibodies was low titer positive in only 1 case and other parameters including rheumatoid factor (RF), anti-CCP antibodies, antinuclear antibodies spectrum (ANAs) and human leukocyte antigen (HLA)-B27 were negative. Multiple bone imaging abnormalities appeared in 15 cases. Conclusion Osteoarticular manifestations may be the first symptom of malignancy and difficult to diagnose. It is necessary to be highly aware of potential malignancy.

Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis. Result: Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation. Conclusion LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.

Objective This retrospective study compared the detection rates of prostate cancer between freehand transperineal biopsy (FTPB) and template-guided transperineal biopsy (TYPB) in the patients with PSA levels ＜ 20 ng/ml.Methods From April 2017 to April 2019,768 patients with PSA levels ＜ 20 ng/ml were included into this study.Of these patients,406 underwent FTPB procedures and 362 underwent TTPB procedures.There were no significant differences of median age [66.00(61.00,70.00)vs.66.00 (61.00,71.25) years],height [170.00 (165.00,172.00) vs.170 (165.00,173.00) cm],weight [70.00 (63.88,75.00) vs.70.00 (63.75,75.00) kg],BMI [24.22 (22.22,25.95) vs.24.22 (22.49,25.82) kg/m2],PSA [8.75 (6.49,12.40) vs.8.69 (6.49,11.96) ng/ml],fPSA [1.18 (0.33,2.15) vs.1.15(0.76,1.88)ng/ml],prostate volume [39.79(25.55,53.94)vs.39.88(24.46,55.11)ml] between two groups.Patients' biopsy results were recorded,the differences of prostate cancer detection rates between these two groups were analyzed,specifically including the cancer with Gleason score ≥ 7 and the anterior zone cancer.Results The total prostate cancer detection rates were 33.7％ (137/406) and 39.0％ (141/362,P =0.134) in FTPB group and TTPB group respectively,and the detection rates of cancer with Gleason score≥7 were 23.9％ (97/406) and 32.0％ (116/362,P =0.012) respectively.The detection rates of anterior zone prostate cancer were 15.5％ (63/406) and 27.3％ (99/362,P ＜0.001).Moreover,in thepatients with PSA ＜ 10 ng/ml,the prostate cancer detection rates were 29.8％ (74/248) and 36.2％ (81/224,P =0.144) respectively,while the detection rates of cancer with Gleason score ≥7 were 19.4％ (48/248) and 29.9％ (67/224,P =0.008) respectively.Conclusions There was no significant difference in the total prostate cancer detection rates between 12-core TTPB group and 20-core FTPB group in the patients with PSA ＜ 20 ng/ml,but for the detection rate of cancer with Gleason score ≥ 7,TTPB group was significantly higher than FTPB group,especially in the patients with PSA ＜ 10 ng/ml.In addition,for anterior zone prostate cancer,the detection rate of TrPB group was also higher than FTPB group.

Objective: To investigate the current basic situation of ultrasound machines of ultrasound departments in Shanghai medical institutions, and to provide the basis for making management policy in order to promote medical quality. Methods: Questionnaire surveys about ultrasound machines and service ability including producing countries of ultrasound machines, the number of ultrasound machines, using years of ultrasound machines, yearly workload and the yearly number of patients that each ultrasound machine accepted were made in 2013 and 2018, respectively. Statistical results were compared between the two surveys. Results: Compared with 2013, the share of imported ultrasound machines declined in 2018 (82% vs 91%). Compared with 2013, the number of ultrasound machines in Shanghai medical institutions had increased by 31% in 2018 (2 123 vs 1 617). The occupancy rate of ultrasound machines in tertiary hospitals was the highest (tertiary hospitals 40%, secondary hospitals 25%, primary grade hospitals 20%, and private hospitals 15%). Compared with 2013, the proportion of ultrasound machines that have been used for more than 10 years increased (9% vs 4%), the yearly workload of ultrasound examination had increased by 46% (19.82 million person-time vs 13.59 million person-time). Tertiary hospitals bored the highest proportion of the workload (tertiary hospitals 51%, secondary hospitals 35%, primary grade hospitals 4%, and private hospitals 10%). Currently, the number of ultrasound machines per 10, 000 people in Shanghai was 1.14. The yearly number of patients that each ultrasound machine accepted had increased by 11% (9300 person-time vs 8400 person-time in 2018). Conclusions The scale of ultrasound departments in Shanghai medical institutions has been developing. Brand localization of ultrasound machines is improving. However, the renewal ability of ultrasound machines still needs to be improved. The workload of ultrasound department is getting heavier. Hierarchical diagnosis and treatment is unbalanced.