Expression changes and clinical significance of IRAK1 and TRAF6 in patients with septic shock / 国际检验医学杂志

Objective To investigate the expression changes and clinical significance of interleukin-1 recep-tor-associated kinase 1(IRAK1)and tumor necrosis factor receptor-associated factor 6(TRAF6)in patients with septic shock.Methods A total of 142 patients with septic shock admitted from November 2020 to No-vember 2022(septic shock group)were selected as the study subjects,and those who came to the hospital for physical examination during the same period were selected as the control group.Patients with septic shock were divided into survival group(100 cases)and death group(42 cases)according to their survival status after 28 days of hospitalization observation and treatment.The expression changes of IRAK1 and TRAF6 in pa-tients with septic shock were monitored at admission and after 2,4 and 6 days of treatment.The dynamic changes of acute physiology and chronic health evaluation Ⅱ(APACHEⅡ)score and sequential organ failure assessment(SOFA)score were recorded.Spearman correlation analysis was used to evaluate the correlation between IRAK1,TRAF6 and APACHE Ⅱ score and SOFA score in septic shock patients.The correlation be-tween IRAK1 and TRAF6 was analyzed by Pearson correlation analysis.Logistic regression was used to ana-lyze the factors influencing survival status of patients with septic shock.The diagnostic value of IRAK1 and TRAF6 in survival of patients with septic shock was analyzed by the receiver operating characteristic curve.Results The relative expression levels of IRAK1 and TRAF6 in septic shock group were significantly lower than those in control group,and APACHE Ⅱ score and SOFA score were significantly higher than those in control group,with statistical significance(P＜0.05).Compared with admission,the relative expression levels of IRAK1 and TRAF6 in 2,4 and 6 days after treatment were significantly increased,while APACHE Ⅱ score and SOFA score were significantly decreased,with statistical significance(P＜0.05).Compared with the death group,the relative expression levels of IRAK1 and TRAF6 in the survival group were higher at each corre-sponding time point,and the APACHE Ⅱ score and SOFA score were lower,with statistical significance(P＜0.05).Correlation analysis showed that IRAK1 and TRAF6 were negatively correlated with APACHE Ⅱscores and SOFA scores in septic shock patients,while IRAK1 and TRAF6 were positively correlated(r=0.688,P＜0.05).IRAK1,TRAF6 and APACHE Ⅱ scores were independent risk factors for survival of septic shock patients(P＜0.05).The AUC of the combined diagnosis of IRAK1 and TRAF6 was significantly larger than that of IRAK1 alone(Z=2.044,P=0.041)and that of TRAF6 alone(Z=2.442,P=0.015).Conclusion The expression of IRAK1 and TRAF6 can evaluate the survival and prognosis of patients with septic shock.

LI Fei's Experience in Treating Facial Paralysis with Acupuncture and Moxibustion / 广州中医药大学学报

This article aims to analyze LI Fei's academic thinking and experience in treating facial paralysis.LI Fei proposes that the diagnosis and treatment of facial paralysis should follow the principle of"identify the cause of the disease when it is occured at first time,followed by exploring the pathogenesis of the disease,then differentiating the syndrome and treating the disease,and recognizing the syndrome and treating the disease",and that the basic treatment principle should be"dispelling wind and unblocking the collaterals,regulating the tendons and meridians".In clinical treatment,"put emphasis on anatomy,treat the disease according to symptoms"is the basic policy;meanwhile,integrating Chinese and western theories,combining the anatomical structure of the expression muscle,dynamically judging the recovery of nerves and muscles,and selecting the corresponding empirical acupoints according to the symptoms.LI Fei emphasizes the integration of theories and summarizes the"triple"methods of differentiation by reasoning,staging and symptoms,and the"triple"theory of treatment by regulating menstruation,tendon and spirit,which is worthy of reference in the clinic.

Application and evaluation of diversified teaching mode in clinical teaching for medical students / 基础医学与临床

Objective To investigate the needs and feedback from clinical medical students on the diversified teaching mode adopted by the Department of Endocrinology in Peking Union Medical College Hospital.Methods Questionnaires were distributed to the medicine students who were in clinical rotation in Peking Union Medical Col-lege,and the teaching status and teaching effect was investigated.Results A total of 95 valid questionnaires were received.The attending physicians and the teaching resident physicians performed well in the daily teaching activi-ties.The medical students believed that outpatient training was necessary in addition to ward rotations.After the ro-tation in the endocrinology department,the self-evaluated score of mastery of endocrinology knowledge had been significantly improved,especially in those who rotated in outpatient clinic,suggesting that outpatient teaching was of great significance.In addition,the establishment of a self-learning platform including clinical cases and videos in endocrinology could be used as an important supplementary means for clinical teaching.Conclusions Outpatient training improves learning outcomes of medical students,so must be kept and further strengthened in the future.Building a database of typical clinical cases and teaching videos can improve the training quality.

Application value of venous excess ultrasound score (VExUS Score) in patients with sepsis complicated acute kidney injury / 中华急诊医学杂志

Objective:To evaluate the effect of venous excess ultrasound score (VExUS Score) in the acute kidney injury(AKI) in Patients with sepsis, so as to reduce the risk of disease and improve the prognosis of patients.Methods:This experiment was a single-center prospective cohort study. Include septic patients with AKI who were admitted to the Department of Emergency Intensive Care Unit of the First Affiliated Hospital of Anhui Medical University from February 2022 to February 2023, Those with inadequate window, inferior vena cava (IVC) thrombus, age<18 years and known case of cirrhosis with portal hypertension were excluded from the study. Patients underwent ultrasound examination with serial determination till AKI resolved or patient is initiated on dialysis.Results:Totally 86 patients were enrolled for the study. The mean age was (60.43±15.48) with 50 (58.1%) males. Mean sequential organ failure assessment (SOFA) score was (6.23±1.87). 38 patients (44.2%) were in AKI stage 1, while 24 patients (27.9%) were in AKI stage 2 and stage 3 each. 52 patients (60.5%) had VExUS grade Ⅲ. Resolution of AKI injury showed significant correlation with improvement in VExUS grade ( p value 0.003). Similarly, there was significant association between changes in VExUS grade and fluid balance ( p value 0.005). There was no correlation between central venous pressure (CVP), left ventricular function, and right ventricular function with change in VExUS grade. Conclusions:The study shows a significant correlation between the VExUS Score and AKI staging, With improvement in kidney function, there is decline in the VExUS grade as well. Moreover VExUS Score might reliably demonstrate venous congestion and aid in the clinical decision to perform fluid removal.

The Catalytic Mechanism and Activity Modulation of Manganese Superoxide Dismutase / 生物化学与生物物理进展

Manganese superoxide dismutase catalyzes the dismutation of two molecules of superoxide radicals to one molecule of oxygen and one molecule of hydrogen peroxide. The oxidation of superoxide anion to oxygen by Mn3+SOD proceeds at a rate close to diffusion. The reduction of superoxide anion to hydrogen peroxide by Mn2+SOD can be progressed parallelly in either a fast or a slow cycle pathway. In the slow cycle pathway, Mn2+SOD forms a product inhibitory complex with superoxide anion, which is protonated and then slowly releases hydrogen peroxide out. In the fast cycle pathway, superoxide anion is directly converted into product hydrogen peroxide by Mn2+SOD, which facilitates the revival and turnover of the enzyme. We proposed for the first time that temperature is a key factor that regulates MnSOD into the slow- or fast-cycle catalytic pathway. Normally, the Mn2+ rest in the pent-coordinated state with four amino acid residues (His26, His74, His163 and Asp159) and one water (WAT1) in the active center of MnSOD. The sixth coordinate position on Mn (orange arrow) is open for water (WAT2, green) or O2• to coordinate. With the cold contraction in the active site as temperature decreases, WAT2 is closer to Mn, which may spatially interfere with the entrance of O2• into the inner sphere, and avoid O2•/Mn2+ coordination to reduce product inhibition. Low temperature compels the reaction into the faster outer sphere pathway, resulting in a higher gating ratio for the fast-cycle pathway. As the temperature increases in the physiological temperature range, the slow cycle becomes the mainstream of the whole catalytic reaction, so the increasing temperature in the physiological range inhibits the activity of the enzyme. The biphasic enzymatic kinetic properties of manganese superoxide dismutase can be rationalized by a temperature-dependent coordination model of the conserved active center of the enzyme. When the temperature decreases, a water molecule (or OH-) is close to or even coordinates Mn, which can interfere with the formation of product inhibition. So, the enzymatic reaction occurs mainly in the fast cycle pathway at a lower temperature. Finally, we describe the several chemical modifications of the enzyme, indicating that manganese superoxide dismutase can be rapidly regulated in many patterns (allosteric regulation and chemical modification). These regulatory modulations can rapidly and directly change the activation of the enzyme, and then regulate the balance and fluxes of superoxide anion and hydrogen peroxide in cells. We try to provide a new theory to reveal the physiological role of manganese superoxide dismutase and reactive oxygen species.

Establishment of reference intervals for serum sTfR and sTfR/lgSF in apparently healthy adults in Wuhan / 中国输血杂志

【Objective】 To establish reference intervals for serum soluble transferrin receptor (sTfR) and sTfR/log serum ferritin index (sTfR/lgSF) in apparently healthy adults in the Wuhan area, so as to provide reference for clinical diagnosis and treatment of iron deficiency and iron-deficiency anemia. 【Methods】 A total of 273 individuals from the Wuhan Aisa General Hospital, including health examination participants and blood donors, were selected to measure sTfR, other iron metabolism indicators and high sensitivity C-reactive protein(hsCRP). The sTfR/lgSF values were calculated and reference intervals for sTfR and sTfR /lgSF were established using the percentile method (P2.5 to P97.5). Spearman correlation analysis was used to evaluate the relationships between sTfR, sTfR/lgSF, and other iron metabolism indicators, as well as hsCRP. 【Results】 The sTfR levels (M, mg/L) between males and females (1.01 vs 1.07) were not statistically significant (P>0.05), but the sTfR/lgSF levels if males were significantly lower than those in females (0.45 vs 0.62)(P0.05). The reference interval for STfR was (0.72-1.68) mg/L, the sTfR/lgSF reference interval was (0.31-0.88) for males, and (0.37-1.19) for females. Correlation analysis showed no correlation between sTfR, sTfR/lgSF and hsCRP (r=0.043, P>0.05; r=-0.064, P>0.05), while serum ferritin(SF), serum iron(SI), transferrin saturation(TSAT)were correlated with hsCRP (r=0.128, P0.05), while sTfR/lgSF was significantly correlated with and SF (r=-0.685, P<0.01). 【Conclusion】 Preliminary reference intervals for serum sTfR and sTfR/lgSF in apparently healthy adults in the Wuhan has been established. sTfR and sTfR/lgSF are not affected by inflammatory factors and are significant for identifying iron deficiency in anemia patients with elevated serum ferritin caused by inflammation.

Novel antibacterial drug target against Gram-negative bacteria: lipopolysaccharide transport protein LptDE and its inhibitors / 药学学报

The outer membrane composed predominantly of lipopolysaccharide (LPS) is an essential biological barrier for most Gram-negative (G-) bacteria. Lipopolysaccharide transport protein (Lpt) complex LptDE is responsible for the critical final stage of LPS transport and outer membrane assembly. The structure and function of LptDE are highly conserved in most G- bacteria but absent in mammalian cells, and thus LptDE complex is regarded as an attractive antibacterial target. In recent 10 years, the deciphering of the three-dimensional structure of LptDE protein facilities the drug discovery based on such "non-enzyme" proteins. Murepavadin, a peptidomimetic compound, was reported to be the first compound able to target LptD, enlightening a new class of antibacterial molecules with novel mechanisms of action. This article is devoted to summarize the molecular characteristics, structure-function of LptDE protein complex and review the development of murepavadin and related peptidomimetic compounds, in order to provide references for relevant researches.

Serological and molecular biological characteristics of hepatitis B vaccinated donors with asymptomatic chronical infection in Shenzhen / 中国输血杂志

【Objective】 To investigate asymptomatic infection of hepatitis B virus(HBV) among hepatitis B vaccinated donors in Shenzhen, and analyze its serological and molecular characteristics. 【Methods】 The HBsAg ELISA positive blood samples of blood donors born after 1992 were collected. HBsAg, anti-HBs, HBeAg, anti-HBe and anti-HBc were further detected by Roche electrochemiluminescence immunoassay (ECL). BCP/PC and S regions were amplified by Nested-PCRs, HBV DNA quantification were adopted by qPCR simultaneously, and the sequences were also analyzed. 【Results】 A total of 46 632 blood samples of donors(31 612 males and 15 020 females) from December 2020 to January 2022 collected, and 99 samples with HBsAg ELISA positive were screened out. After tested by ECL, Nested-PCRs, and real-time fluorescence PCR, 61 were confirmed HBsAg positive, with the positive rate at 0.13% (61/46 632), including 49 males (0.16%, 49/31 612) and 12 females (0.08%, 12/15 020). The HBsAg positive rate of males was higher than that of females (P<0.05). 50 out of 61 sequences for S region were obtained. By phylogenetic analysis, there were 46 cases of type B (92%, 46/50, 38 males and 8 females), 4 cases of type C (8%, 4/50, 3 males and 1 female). The high frequency mutations observed in S region were N40S (8/46,17.39%), G44E (7/46,15.22%), Q129H/R(6/46,13.04%), Y161F/S(7/46, 15.22%), V179A(4/46,8.70%), S53L(2/4,50%), C69T(2/4,50%) and I126S/T(2/4,50%), including the immune escape mutations Q129R and T/I126A/N/S/T. 【Conclusion】 Hepatitis B vaccination can significantly reduce the positive rate of HBsAg and increase the safety of blood transfusion. The high frequency immune escape mutations have become a potential risk of blood safety, and need to be further explored.

The effects of invisible orthodontic appliances without brackets and labial fixed orthodontic appliances on periodontal status and root resorption in orthodontic patients / 中国医师杂志

Objective:To compare the effects of invisible orthodontic appliances without brackets and labial fixed orthodontic appliances on periodontal status and root resorption in orthodontic patients.Methods:A retrospective study was conducted on 102 orthodontic patients who visited the Affiliated Hospital of Jining Medical University from January 2019 to October 2022. According to different treatment methods, they were divided into group A ( n=52) and group B ( n=50). Group A was treated with invisible orthodontic appliances without brackets, while group B was treated with labial fixed orthodontic appliances. We compared two groups of treatment completion time, root resorption, and periodontal health indicators before and after treatment, including plaque index (PLI), gingival index (GI), gingival sulcus bleeding index (SBI), and levels of inflammatory factors in gingival crevicular fluid, including interleukin-1β (IL-1β) and soluble intercellular adhesion molecule-1 (sICAM-1). Results:The completion time of treatment in the Group A was longer than that in the group B [(34.62±4.28)months vs (28.93±3.11)months] ( P<0.01). After treatment, the incidence of root resorption in the group A was 50.96%, while in the group B it was 78.00%. The group A was significantly lower than the group B ( P<0.05), with no root resorption greater than 3 mm in the group A and 0.50% in the group B. After treatment, the levels of PLI, GI, SBI, and IL-1β and sICAM-1 in gingival crevicular fluid increased in both groups, with the group A being lower than group B [(1.26±0.39)points vs (1.73±0.54)points, (1.33±0.25)points vs (2.06±0.46)points, (1.73±0.40)points vs (2.48±0.50)points, (173.74±25.81)ng/ml vs (196.33±31.52)ng/ml, (42.28±5.16)μg/L vs (56.59±7.38)μg/L] (all P<0.05). Conclusions:Although invisible orthodontic appliances without brackets cannot shorten the completion time of treatment, they have advantages in inhibiting root resorption, improving periodontal health, and reducing inflammatory reactions. Clinically, appropriate appliances can be selected based on the specific situation of patients.

Application of extended reality technology for real-time navigation in clinical operation / 南方医科大学学报

OBJECTIVE@#To explore the application of extended reality (XR) technology in clinical surgeries for improving the success rate of surgeries.@*METHODS@#To assist the surgeons to better understand the location, size and geometric shape of the lesions and reduce potential radiation exposure in minimally invasive surgical navigation based on two-dimensional images, we constructed three-dimensional models based on CT data and used XR technology to achieve intraoperative navigation. An improved quaternion method was used to improve the accuracy of electromagnetic positioning, with which the system error of positioning accuracy was reduced to below 2 mm. A 5G network was used to optimize the server GPU programming algorithm, and real-time video stream coding strategy and network design were adopted to reduce data transmission jam and delay in the remote surgery network, which achieved an average delay of less than 60 ms. A Gaussian distribution deformation model was used to simulate collision detection and stress deformation of the tissues to achieve a tactile perception effect.@*RESULTS AND CONCLUSION@#The intraoperative navigation system based on XR technology allowed more accurate determination of the location of the lesions, effectively reduced the surgical risk, and avoided the risk of intraoperative radiation exposure. The low latency and high fidelity of 5G network achieved real-time interaction during the surgery to provide a technical basis for multi-terminal remote cooperative surgery. The combination of force feedback technology and XR technology enables the surgeons to conduct deep immersion preoperative planning and virtual surgery to improve the success rate of surgery and shorten the learning curve.

False positive reaction of COVID-19 antibody ELISA screening: internal logic of various methods / 中国输血杂志

【Objective】 To analyze the results of different methods for reactive samples screened by the enzyme linked immunosorbent assay (ELISA) against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in blood donors. 【Methods】 From March to April 2020, a total of 8 632 blood samples in Shenzhen were screened for SARS-CoV-2 total antibodies (TAb, including IgG, IgM, IgA) in plasma using ELISA(PC group), the antibody reactivity samples and their follow up plasma samples (FC group), and samples of disease control group(DC group) from January to April 2020 were detected using the following methods: 1) ELISA method for detecting IgG, IgM, and (or without detection) TAb; 2) pseudovirus neutralizing antibody test(pVNT); 3) western blot (WB) of SARS-CoV-2 antibody. The negative control group(NC group) from February to April 2020 performed ELISA and WB testing. 【Results】 Among the 34 total antibody positive samples, 2 were positive for pVNT test, and the total antibody, IgG and WB in the initial screening and tracking testing were positive. Thereafter, it was determined to be confirmed positive. The other 2 cases were positive for pVNT test, while the samples with positive WB results were in the follow-up stage. The TAb, IgG, and pVNT results did not conform to the dynamic evolution of antibodies, and cannot be determined as confirmed positive. 【Conclusion】 The infection status of antibody reactivity samples screened by SARS-CoV-2 ELISA can be judged by the logic of pVNT, WB and the dynamic change of antibody.

Enhancing the sensitivity of HIV DNA detection: a magnetic bead-based method / 中国输血杂志

【Objective】 To establish a magnetic bead enrichment strategy for the detection of human immunodeficiency virus deoxyribonucleic acid (HIV DNA) in peripheral blood, and to verify the improvement of the sensitivity of this method for the detection of HIV DNA in HIV infected patients after early antiretrovital treatment (ART). 【Methods】 Peripheral whole blood was collected at 4 timepoints in one ART HIV window period (WP) patient. Peripheral blood mononuclear cells (PBMCs) were isolated on a Ficoll gradient. CD4+ T lymphocytes were enriched from total PBMCs by negative sorting. HIV DNA concentration in magnetic beads enriched group and whole blood group was detected by HIV DNA detection kit. 【Results】 CD4+ T cells were isolated by magnetic beads and identified by FCM for purity at (96.4 ± 2.6)%. The viability was (95.9 ± 2.9)%, as demonstrated by trypan blue staining. The person on continued ART treatment in this study had significantly greater reduction in HIV viral load and undetectable HIV plasma RNA at follow up timepoint 4. No HIV DNA was detected in the whole blood group at all 4 timepoints. The quantitative results of HIV DNA in the CD4+ T lymphocyte group of the magnetic bead enrichment group were 73.4, 429.3, 137.1, 449.9 copies/106 CD4+ T cell′s respectively. 【Conclusion】 The magnetic bead enrichment method can be more sensitive in detecting the limit low copy HIV DNA in blood samples, and provide early confirmatory data for HIV WP infection and breakthrough infection after ART treatment.

Cost-benefit analysis of hepatitis B virus serological and nucleic acid testing in blood donors / 中国输血杂志

【Objective】 In an effort to prevent transfusion-transmitted hepatitis B infection, universal HBsAg screening, HBsAg+ MP nucleic acid test(NAT) for HBV and HBsAg + individual(ID) NAT were analyzed for cost-effectiveness. 【Methods】 On the basis of screening data and the documented parameter, the number of window period infections, chronic infections and occult infections was constructed, and cost-benefit analysis was conducted. 【Results】 Of 132 208 donations, the yield rate of ID NAT for HBsAg-/DNA+ (0.11%) was significantly higher than HBsAg+ MP NAT(0.058%). Furthermore, the predicted preventing transfusion transmitted HBV cases by ID NAT is 1.25 times as that by MP-6 NAT, so did the benefits. The cost-benefit of the three screening models were 1∶63.6、1∶28.6 and 1∶53.4. 【Conclusion】 Universal HBsAg in combination with ID HBV NAT screening was the most effective among all screening strategy. It is necessary to applied HBsAg and ID HBV NAT screening for the safety of blood transfusion.

Baseline survey of psychosocial factors levels and their health effects in a cohort study of natural gas field workers / 中华劳动卫生职业病杂志

Objective: To investigate the level of psychosocial factors in workplace and their health effects among workers in a natural gas field. Methods: A prospective and open cohort of natural gas field workers was established to study the level of workplace psychosocial factors and their health effects, with a follow-up every 5 years. In October 2018, a cluster sampling method was used to conduct a baseline survey of 1737 workers in a natural gas field, including a questionnaire survey on demographic characteristics, workplace psychosocial factors and mental health outcomes, physiological indicators such as height and weight, and biochemical indicators such as blood routine, urine routine, liver function and kidney function. The baseline data of the workers were statistically described and analyzed. The psychosocial factors and mental health outcomes were divided into high and low groups according to the mean score, and the physiological and biochemical indicators were divided into normal and abnormal groups according to the reference range of normal values. Results: The age of 1737 natural gas field workers was (41.8±8.0) years old, and the length of service was (21.0±9.7) years. There were 1470 male workers (84.6%). There were 773 (44.5%) high school (technical secondary school) and 827 (47.6%) college (junior college) graduates, 1490 (85.8%) married (including remarriage after divorce), 641 (36.9%) smokers and 835 (48.1%) drinkers. Among the psychosocial factors, the detection rates of high levels of resilience, self-efficacy, colleague support and positive emotion were all higher than 50%. Among the mental health outcomes evaluation indexes, the detection rates of high levels of sleep disorder, job satisfaction and daily stress were 41.82% (716/1712), 57.25% (960/1677) and 45.87% (794/1731), respectively. The detection rate of depressive symptoms was 22.77% (383/1682). The abnormal rates of body mass index (BMI), triglyceride and low density lipoprotein were 46.74% (810/1733), 36.50% (634/1737) and 27.98% (486/1737), respectively. The abnormal rates of systolic blood pressure, diastolic blood pressure, uric acid, total cholesterol and blood glucose were 21.64% (375/1733), 21.41% (371/1733), 20.67% (359/1737), 20.55% (357/1737) and 19.17% (333/1737), respectively. The prevalence rates of hypertension and diabetes were 11.23% (195/1737) and 3.45% (60/1737), respectively. Conclusion: The detection rates of high level psychosocial factors in natural gas field workers are high, and their effects on physical and mental health remain to be verified. The establishment of a cohort study of the levels and health effects of psychosocial factors provides an important resource for confirming the causal relationship between workplace psychosocial factors and health.

Development of General Practice in Communities From the Perspective of Supply and Demand / 中国医学科学院学报

Objective To put forward suggestions for improving the scheme of general practice for functional communities from the perspective of supply and demand,guide the efficient use of the resources of general practice by the communities,and incorporate the general practice of communities into hierarchical diagnosis and treatment management. Methods In July 2021,stratified random sampling was employed to conduct the questionnaire surveys of the young and middle-aged (demand side) and the general practitioners (supply side),respectively.SPSS 20.0 was used for data analysis. Results The two sides had the same cognition about the main reasons for not signing a contract with a family doctor,which were the lack of knowledge about general practitioners and the lack of face-to-face communication opportunities.They had the same response about the form of services,with high acceptance of medical services via WeChat,outpatient consultation,and the internet.There were differences in service content between the two sides.The top three demands of the young and middle-aged were appointment registration and referral in superior hospitals,medication guidance,and massage,acupuncture,and moxibustion.The top service self-rated by general practitioners was personalized guidance and report interpretation of physical examination,and the bottom was massage,acupuncture,and moxibustion. Conclusions The general practice varies between the demand and supply sides.General practitioners should be encouraged to enter and learn functional communities and provide personalized services,thus improving the general medical service in functional communities.

Methods and Research Hotspots of Forensic Kinship Testing / 法医学杂志

Kinship testing is widely needed in forensic science practice. This paper reviews the definitions of common concepts, and summarizes the basic principles, advantages and disadvantages, and application scope of kinship analysis methods, including identity by state (IBS) method, likelihood ratio (LR) method, method of moment (MoM), and identity by descent (IBD) segment method. This paper also discusses the research hotspots of challenging kinship testing, complex kinship testing, forensic genetic genealogy analysis, and non-human biological samples.

Evaluation of Detection Efficiency for Trio Full Sibling Testing / 法医学杂志

OBJECTIVES@#To study the detection efficiency of trio full sibling with another known full sibling reference added under different number of autosomal STR typing systems.@*METHODS@#Based on 43 detection systems consisting of 13 to 55 representative autosomal STR loci, 10 000 true families (full sibling group) and 10 000 false families (unrelated individual group) were randomly simulated. The full sibling index (FSI) was calculated based on the method of family reconstruction. The cumulative sibling relationship index (CFSI) of 0.000 1 and 10 000 were used as the evaluation thresholds, and the detection efficiency parameters were calculated and compared with the identification of the duo full sibling testing.@*RESULTS@#With the increasing number of STR loci, the error rate and inability of judgement rate gradually decreased; the sensitivity, specificity, correct rate of judgment and other parameters gradually increased, and the system efficiency gradually improved. Under the same detection system, trio full sibling testing showed higher sensitivity, specificity, system efficiency and lower inability of judgement rate compared with duo full sibling testing. When the system efficiency was higher than 0.85 and inability of judgement rate was less than 0.01%, at least 20 STRs should be detected for trio full sibling testing, which was less than 29 STRs required by duo full sibling testing.@*CONCLUSIONS@#The detection efficiency of trio full sibling testing is superior to that of duo full sibling testing with the same detection system, which is an effective identification scheme for laboratories with inadequate detection systems or for materials with limited conditions.

Analysis of Trio Half Sibling Testing / 法医学杂志

OBJECTIVES@#To establish an analytical method for half sibling testing involving common three relatives' participation.@*METHODS@#Based on the half sibling testing scenarios with the known biological mother, grandfather or uncle, and two unidentified controversial half siblings participating, two opposing hypotheses were set. Lineage reconstruction according to Mendel's law of heredity was carried out, and the calculation formula of the half sibling kinship index was derived. Verification of actual cases was carried out and the results were compared with duo half sibling testing.@*RESULTS@#In the scenarios of the known biological mother, grandfather and uncle participating in half sibling testing, the kinship calculation formulae of 54, 91 and 99 genotype combinations for kinship index calculation were deduced respectively. The actual cases showed higher kinship indexes in trio half sibling testing compared with duo half sibling testing.@*CONCLUSIONS@#It is beneficial to obtain more genetic information for family reconstruction and improvement of the strength of genetic evidence for half sibling testing by adding known relatives.

Advances in Hormone Replacement Therapy for Adult Adrenal Insufficiency / 罕见病研究

Adrenal insufficiency is a disease characterized by insufficient secretion of adrenocortical hormones, usually treated with glucocorticoid replacement therapy. The routine drugs have two forms-short-acting and long-acting. The shorter one should be taken 2-3 times a day resulting hormone level of patients fluctuating greatly within a day. Although long-acting drugs reduce the frequency of administration, it is easy to lead to excessive replacement, resulting in adverse effects on metabolism. New alternative treatments for adult patients have emerged, including modified-release hydrocortisone and hydrocortisone subcutaneous infusion pumps. In this review, we briefly introduce these new therapies, emphasizing the pharmacodynamics and pharmacokinetics of the replacement, the effects on metabolism and drug safety, aiming at contributing to the future clinical practice.

Characterization of a D-mannitol oxidase from Paenibacillus sp. and its application in the preparation of D-mannose / 生物工程学报

D-mannose has many functional activities and is widely used in food, medicine, agriculture and other industries. D-mannitol oxidase that can efficiently convert D-mannitol into D-mannose has potential application in the enzymatic preparation of D-mannose. A D-mannitol oxidase (PsOX) was found from Paenibacillus sp. HGF5. The similarity between PsOX and the D-mannitol oxidase (AldO) from Streptomyces coelicolor was 50.94%. The molecular weight of PsOX was about 47.4 kDa. A recombinant expression plasmid pET-28a-PsOX was constructed and expressed in Escherichia coli BL21(DE3). The Km and kcat/Km values of PsOX for D-mannitol were 5.6 mmol/L and 0.68 L/(s·mmol). Further characterization of PsOX showed its optimal pH and temperature were 7.0 and 35 ℃, respectively, while its enzyme activity could be stably remained below 60 ℃. The molar conversion rate of 400 mmol/L D-mannitol by PsOX was 95.2%. The whole cells of PsOX and AldO were used to catalyze 73 g/L D-mannitol respectively. The reaction catalyzed by PsOX completed in 9 h and 70 g/L D-mannose was produced. PsOX showed a higher catalytic efficiency compared to that of AldO. PsOX may facilitate the enzymatic preparation of D-mannose as a novel D-mannose oxidase.