OBJECTIVE: To compare the performance of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai area through comparison with traditional methods. METHODS: A total of 1463 pregnant women were randomly selected. Following DNA extraction, high-throughput sequencing and conventional three-step thalassemia screening were carried out for each sample. Inconsistent results samples were validated by quantitative fluorescence PCR (QF-PCR) or Sanger sequencing. The results by the two methods were compared. RESULTS: Among the 1463 cases, 318 (21.74%) were detected by conventional method, which included 210 (14.35%) with α-thalassemia, 97 (6.63%) with β-thalassemia, 11 (0.75%) with composite α- and β-thalassemia. Meanwhile, 379 cases (25.91%) of thalassemia were detected by high-throughput sequencing, which included 260 (17.77%) with α-thalassemia, 107 (7.31%) with β-thalassemia, 12 (0.82%) with composite α- and β-thalassemia. Six one cases were missed by the conventional method, which yielded a missed diagnosis rate of 16.09%, including 50 cases of α- thalassemia,10 cases of β-thalassemia, and 1 case of α-compound β-thalassemia. No cases of thalassemia were missed by high-throughput sequencing, and 10 rare thalassemia genotypes were detected. CONCLUSION High-throughput sequencing technology can improve the detection rate of thalassemia and reduce the missed diagnosis rate. It has a high application value in prenatal thalassemia screening in Zhuhai area and can more effectively prevent the birth of patients with severe thalassemia.
China ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis/methods* ; Technology ; alpha-Thalassemia/genetics* ; beta-Thalassemia/genetics*

Objective:To study the changes of proliferation and oxidation indexes of Cochlear hair cell line (HEI-OC1 cells) exposed to ethylbenzene.Methods:From July to December 2019, 11 groups with ethylbenzene concentrations of 0, 30, 60, 90, 300, 600, 900 μmol/L and 3, 6, 9, 10 mmol/L, were used to determine the proliferation activity of HEI-OC1 cells exposed to ethylbenzene for 24 hours, and the cells were treated with 0, 1, 2, 4, 8, 16, 32, 64 mmol/L ethylbenzene for 24 hours, then the 50% inhibitory concentration of ethylbenzene was calculated. After HEI-OC1 cells were exposed to 0, 6, 9 and 12 mmol/L ethylbenzene for 24 hours, the malondialdehyde (MDA) content, superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities were measured.Results:Compared with 0 mmol/L concentration group, the survival rate of HEI-OC1 cells at 6, 9, 12 mmol/L concentration was significantly decreased ( P<0.01) . The 50% inhibitory concentration of ethylbenzene on HEI-OC1 cells was 12.86 mmol/L ( R2=99.05) . There were significant differences in SOD and GSH-Px activity in HEI-OC1 cells treated with ethylbenzene at different concentrations (0, 6, 9, 12 mmol/L) for 24 hours ( F=65.11, 6.48, 22.85, P<0.05) . Compared with 0 mmol/L concentration group, the MDA content of HEI-OC1 cells was significantly increased in 9 and 12 mmol/L concentration groups, the SOD activity was significantly decreased in 12 mmol/L concentration group, and the GSH-Px activity was significantly decreased in 6 and 12 mmol/L concentration groups. Conclusion:Ethylbenzene can inhibit the proliferation of HEI-OC1 cells and cause oxidative damage.

Objective:To study the changes of proliferation and oxidation indexes of Cochlear hair cell line (HEI-OC1 cells) exposed to ethylbenzene.Methods:From July to December 2019, 11 groups with ethylbenzene concentrations of 0, 30, 60, 90, 300, 600, 900 μmol/L and 3, 6, 9, 10 mmol/L, were used to determine the proliferation activity of HEI-OC1 cells exposed to ethylbenzene for 24 hours, and the cells were treated with 0, 1, 2, 4, 8, 16, 32, 64 mmol/L ethylbenzene for 24 hours, then the 50% inhibitory concentration of ethylbenzene was calculated. After HEI-OC1 cells were exposed to 0, 6, 9 and 12 mmol/L ethylbenzene for 24 hours, the malondialdehyde (MDA) content, superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities were measured.Results:Compared with 0 mmol/L concentration group, the survival rate of HEI-OC1 cells at 6, 9, 12 mmol/L concentration was significantly decreased ( P<0.01) . The 50% inhibitory concentration of ethylbenzene on HEI-OC1 cells was 12.86 mmol/L ( R2=99.05) . There were significant differences in SOD and GSH-Px activity in HEI-OC1 cells treated with ethylbenzene at different concentrations (0, 6, 9, 12 mmol/L) for 24 hours ( F=65.11, 6.48, 22.85, P<0.05) . Compared with 0 mmol/L concentration group, the MDA content of HEI-OC1 cells was significantly increased in 9 and 12 mmol/L concentration groups, the SOD activity was significantly decreased in 12 mmol/L concentration group, and the GSH-Px activity was significantly decreased in 6 and 12 mmol/L concentration groups. Conclusion:Ethylbenzene can inhibit the proliferation of HEI-OC1 cells and cause oxidative damage.

Objective To analyze the clinical characteristics and perinatal outcomes of listeriosis during pregnancy. Methods From July 2010 to April 2017, 70 131 women delivered in West China Second University Hospital.Nineteen cases were confirmed as listeriosis.The clinical symptoms,laboratory results,pathogens,placenta pathology and perinatal outcomes were analyzed retrospectively. Results The median age of the 19 cases was 29.7 (19.0-42.0) years old. The median time before diagnosis was 4.8 (0.5-19.0) days. The main clinical symptoms at first visits were high fever (17/19), increased white blood cells (18/19), abdominal pain (12/19). Listeria was found in samples of mother′s blood (11/19), vaginal secretions(15/19),placenta(1/19),neonatal blood(4/19),neonatal phlegm(5/19)and neonatal ear secretions (1/19),respectively.Inflammation of placenta was identified in all 19 cases.Among the 19 cases,1 was gradeⅠ chorioamnionitis,4 was grade Ⅱ,5 was grade Ⅲand 9 was grade Ⅵ. Only 4 newborn survived after therapy,and others suffered perinatal death,including 8 cases of intrauterine death,3 cases of miscarriage and 6 cases of treatment failure. Conclusions Listeriosis has characteristics of acute onset, quick development and high morbidity during pregnancy. The empiric use of antibiotics might not cover listeria. The understanding of listeriosis should be improved.

Objective To investigate the role of early detecting macrophage inflammatory protein‐1β(MIP‐1β) and proealcitonin (PCT ) level for the diagnosis of spontaneous bacterial peritonitis (SBP) in the decompensated stage of liver cirrhosis .Methods 384 cases of decompensated stage of liver cirrhosis complicating SBP collected in the Affiliated 3201 Hospital of Xi ′an Jiaotong Univer‐sity from May 2011 to February 2015 were included into the SBP group ,while other 377 cases of decompensated stage of liver cir‐rhosis complicating ascites were included into the control group .The serum and ascites samples were collected for detecting PCT by using electrochemical luminescence method and MIP‐1β by using the enzyme‐linked immunoassay .The significance of these two in‐dicators was compared between the serum detection and ascites detection .At the same time the clinical application value of these two indicators was analyzed by using the receiver operating characteristic curve .Results The serum and ascites PCT and MIP‐1βlevels in the SBP group were significantly higher than those in the control group ,the difference was statistically significant (P<0 .05) ;the serum PCT level in the SBP group had statistical difference between the patients with Gram‐negative bacteria infection and the patients with Gram positive bacteria infection (P< 0 .05) ;the ascites MIP‐1β level in the patients with Gram‐negative bacte‐ria infection of the SBP group was higher than that with Gram positive bacteria infection ,the difference was statistically significant (P< 0 .05) .Conclusion The serum and ascites PCT and MIP‐1β detection can help to the differentiation diagnosis of early decom ‐pensated stage of liver cirrhosis complicating SBP ;the serum PCT detection is superior to the MIP‐1β detection ,while ascites MIP‐1β detection is superior to the PCT detection .

This study was aimed to explore the clinical efficiency of modified Xiao-Y ao (XY) powder and acupuncture in the treatment of diarrhea-predominant irritable bowel syndrome (D-IBS). A total of 90 D-IBS patients were randomly divided into the treatment group and control group, with 45 patients in each group. Patients in the treatment group received acupuncture combined with modified XY powder. Patients in the control group received oral administration of montmorillonite powder, compound glutamine enteric-coated capsules, compound azintamide enteric coated tablet. Four weeks were one treatment course. After two treatment courses, the pretreatment and posttreatment symptom score, the score of Hamilton Depression Rating Scale (HAMD)/(HAMA), and the overall efficacy were compared. The results showed that compared with pretreatment, clinical symptoms were improved in varying degrees after treatment in both groups (P < 0.05 or P < 0.01). HAMD and HAMA were significantly decreased (P < 0.05). The treatment group had obvious advantages compared to the control group (P < 0.05). The overall efficacy of the treatment group was 91.11%, which was significantly higher than the control group of 68.89%(P < 0.05). It was concluded that modified XY powder and acupuncture can quickly relieve gastrointestinal symptoms, improve anxiety and depression. It is an effective treatment method for D-IBS.

This study was aimed to explore clinical effect on treatment of rheumatoid arthritis (RA) of cold-dampness syndrome by the combination of Wen-Jing San-Han Tong-Luo (WJSHTL) decoction and acupuncture. A total of 88 RA patients were selected and randomly divided into the control group and the treatment group. All 44 cases in the control group were orally administrated with diclofenac sodium, sulphasalazine (SASP) and methotrexate (MTX). All 44 cases in the treatment group were treated with the combination of WJSHTL decoction and acupuncture on the ba-sis of western medication the same as the control group. Each group was treated for three months. Improvements of clinical symptoms, body signs and laboratory indexes were observed. The results showed that clinical symptoms, body signs and laboratory indexes were greatly improved in the comparison before and after treatment in both groups with statistical significance (P < 0.05). Compared to the control group, the treatment group had no statistical significance in the improvement of rest pain, swelling numbers and index, tenderness numbers and index, morning stiffness time, liver and kidney function. Compared with the control group, the treatment group had more obvious advantages in the improvement of joint function, hand grip strength, erythrocyte sedimentation rate (ESR) decreasing, C-reactive protein (CRP) and rheumatoid factor (P< 0.05). It was concluded that compared with single western medication, the combi-nation of WJSHTL decoction and acupuncture with western medication had certain advantages in the improvement of joint function of RA and management of patient's disease condition.

Undergraduates in department of laboratory medicine were organized to participate in United Kingdom National External Quality Assessment Schemes. Case discussion was the main form and contents of cases cover the entire clinical biochemical field. One case was given every 20 days and undergraduates must answer in English. All answers would be summarized and reported by one of them. After results being returned, all undergraduates made a retrospective study. The highest score was 1.74 and the lowest score of-0.4, with the median score of 0.67. Time-window score ranged be-tween 0.98 and 0.41. After participating in the case discussion, students improved clinical problem-solving capa-bility, subjective initiative of clinical practice, English level and the team cooperation ability.

Shanyao (Dioscorea opposita Thunb.) is the one of the conventional herbs in the clinical practice, which is good at nourishing yin, and entering the lung, spleen and kidney meridian. Through analysis on all formulae contain-ing Shanyao in past dynasties, we found out the top 30 kinds of traditional Chinese medicine (TCM) herbs for the highest frequency in combination with Shanyao, among which there were 28 herbs recorded in the Shen Nong Ben Cao Jing (Shen Nong's Classic of the Materia Medica) and 23 herbs were considered as the top grade medicinals. This article was focused on the analysis of the compatibility meaning and rules of Shanyao and supplementing medic-inals in order to provide scientific basis for clinical formulae and daily health cultivation so as to make good use of Shanyao.

A novel series of bis-nicotine derivatives (3a-3i) were designed, synthesized and evaluated as bivalent anti-Alzheimer's disease agents. The pharmacological results indicated that compounds 3e-3i inhibited both acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) in the micromolar range (IC50, 2.28-117.86 micromol x L(-1) for AChE and 1.67-125 micromol x L(-1) for BChE), which was at the same potency as rivastigmine. A Lineweaver-Burk plot and molecular modeling study showed that these derivatives targeted both the catalytic active site (CAS) and the peripheral anionic site (PAS) of AChE. Besides, these compounds could significantly inhibit the self-induced Abeta aggregation with inhibition activity (11.85%-62.14%) at the concentration of 20 micromol x L(-1).