Clinical efficacy and safety evaluation of probiotic-assisted chemotherapy in patients with advanced colorectal cancer / 中国药师

Objective To explore the clinical efficacy and safety of probiotic-assisted chemotherapy in patients advanced colorectal cancer(CRC).Methods Patients with advanced CRC admitted to the First Affiliated Hospital of Hunan Normal University from March 2022 to March 2023 were enrolled.CRC patients were randomly divided into the test group(Bifidobacterium triple viable capsule,capecitabine+oxaliplatin)and the control group(capecitabine+oxaliplatin)by random number table method.The short-term efficacy(objective response rate and disease control rate),incidence of gastrointestinal adverse reactions,Karnofsky performance status(KPS)score,and serum tumor markers CA72-4,CA19-9 and CEA levels were compared between the two groups.Results A total of 120 patients with CRC were included,including 60 patients in the test group and 60 in the control group.Compared with the control group,the objective remission rate and disease control rate in the testl group were significantly higher(P<0.05).There was no significant difference in the incidence of nausea and acid reflux between the two groups(P>0.05),and the incidences of abdominal pain,bloating,constipation and diarrhea in the test group were significantly lower than those in the control group(P<0.05).There was no significant difference in KPS score,serum CA72-4,serum CA19-9 and serum CEA levels between the two groups before treatment(P>0.05),and after 4 weeks of treatment,the KPS score of the test group was significantly higher than that of the control group(P<0.05),and the serum levels of CA72-4,serum CA19-9 and serum CEA were lower than those of the control group(P<0.05).Conclusion Probiotics-assisted chemotherapy improve the near-term efficacy,reduce gastrointestinal adverse effects,and improve the quality of life in patients with advanced CRC.

National bloodstream infection bacterial resistance surveillance report (2022) : Gram-negative bacteria / 中华临床感染病杂志

Objective:To report the results of national surveillance on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2022.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of national bloodstream infection Bacterial Resistant Investigation Collaborative System（BRICS）were collected during January 2022 to December 2022. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute（CLSI）. WHONET 5.6 and SPSS 25.0 software were used to analyze the data.Results:During the study period，9 035 strains of Gram-negative bacteria were collected from 51 hospitals，of which 7 895（87.4%）were Enterobacteriaceae and 1 140（12.6%）were non-fermenting bacteria. The top 5 bacterial species were Escherichia coli（ n=4 510，49.9%）， Klebsiella pneumoniae（ n=2 340，25.9%）， Pseudomonas aeruginosa（ n=534，5.9%）， Acinetobacter baumannii complex（ n=405，4.5%）and Enterobacter cloacae（ n=327，3.6%）. The ESBLs-producing rates in Escherichia coli， Klebsiella pneumoniae and Proteus spp. were 47.1%（2 095/4 452），21.0%（427/2 033）and 41.1%（58/141），respectively. The prevalence of carbapenem-resistant Escherichia coli（CREC）and carbapenem-resistant Klebsiella pneumoniae（CRKP）were 1.3%（58/4 510）and 13.1%（307/2 340）；62.1%（36/58）and 9.8%（30/307）of CREC and CRKP were resistant to ceftazidime/avibactam combination，respectively. The prevalence of carbapenem-resistant Acinetobacter baumannii（CRAB）complex was 59.5%（241/405），while less than 5% of Acinetobacter baumannii complex was resistant to tigecycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa（CRPA）was 18.4%（98/534）. There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of main Gram-negative bacteria resistance among different regions，with statistically significant differences in the prevalence of CRKP and CRPA（ χ2=20.489 and 20.252， P<0.001）. The prevalence of CREC，CRKP，CRPA，CRAB，ESBLs-producing Escherichia coli and Klebsiella pneumoniae were higher in provinicial hospitals than those in municipal hospitals（ χ2=11.953，81.183，10.404，5.915，12.415 and 6.459， P<0.01 or <0.05），while the prevalence of CRPA was higher in economically developed regions（per capita GDP ≥ 92 059 Yuan）than that in economically less-developed regions（per capita GDP <92 059 Yuan）（ χ2=6.240， P=0.012）. Conclusions:The proportion of Gram-negative bacteria in bloodstream infections shows an increasing trend，and Escherichia coli is ranked in the top，while the trend of CRKP decreases continuously with time. Decreasing trends are noted in ESBLs-producing Escherichia coli and Klebsiella pneumoniae. Low prevalence of carbapenem resistance in Escherichia coli and high prevalence in CRAB complex have been observed. The composition ratio and antibacterial spectrum of bloodstream infections in different regions of China are slightly different，and the proportion of main drug resistant bacteria in provincial hospitals is higher than those in municipal hospitals.

Meta-analysis of Fuzheng jiedu therapy of traditional Chinese medicine in the treatment of advanced non-small cell lung cancer / 中国药房

OBJECTIVE To evaluate the therapeutic effects of Fuzheng jiedu therapy of traditional Chinese medicine （TCM） in the treatment of advanced non-small cell lung cancer （NSCLC）. METHODS Randomized controlled trials on the treatment of NSCLC with Fuzheng jiedu therapy of TCM+conventional chemotherapy （trial group） versus conventional chemotherapy （control group） were collected by searching PubMed， CBM， China Periodicals Full Text Database， VIP and Wanfang data service platform during the inception-Oct.Two researchers respectively screened the literature and extracted data， evaluated the quality according to Cochrane 5.4 tool， and used RevMan 5.3 software to perform meta-analysis on the data. RESULTS Nineteen pieces of literature were finally included in the study； meta-analysis showed disease control rate [RR＝1.15， 95%CI （1.07， 1.23）， P＝ 0.000 1]， objective remission rate [RR＝1.47， 95%CI （1.29， 1.67）， P＜0.000 01]， Karnofsky performance scores [WMD＝6.11， 95%CI （2.97， 9.25）， P＝0.000 1]， the levels of immune function indexes （CD3+， CD4+， CD4+/CD8+）， inflammatory factor indicators [interleukin-2 （IL-2）， interferon-γ （IFN-γ）] and lung function indexes （forced vital capacity， forced expiratory volume in the first second and peak expiratory flow） in the trial group were higher than control group （P＜0.05）. The symptomatic score [WMD＝－2.83， 95%CI （－4.42， －1.24）， P＝0.000 5]， the levels of IL-6 [WMD＝－11.20， 95%CI （－21.75，－0.64）， P＝ 0.04]， and the incidence of ADRs （myelosuppression， hepatic and renal injury， gastrointestinal reactions in trial group were all lower than control group （P＜0.05）. In addition， the levels of natural killer cells in the trial group were higher than the control group， but the results were not statistically significant （P＞0.05）. CONCLUSIONS Compared with conventional chemotherapy， Fuzheng jiedu therapy of TCM combined with conventional chemotherapy has obvious advantages in increasing the disease control rate and objective remission rate， improving the quality of life， promoting TCM syndrome and inflammatory status，enhancing immunity and lung function， and decreasing the incidence of ADRs in NSCLC patients.

Research progress of laboratory biomarker for colorectal cancer / 中华预防医学杂志

Colorectal cancer (CRC) has become a major medical and public health threat to human life and health. At present, the clinical diagnosis and treatment of CRC mainly depends on the laboratory tests. With the increasing demand for treatment and prognosis, screening methods for CRC are emerging. In order to provide a reference for reasonable selection of laboratory diagnostic biomarkers, and further improve the accuracy and reliability of colorectal cancer screening, auxiliary diagnosis, efficacy monitoring, as well as prognostic evaluation, this article reviews the laboratory screening and diagnostic methods for CRC, and makes outlook for the future detection markers of CRC.

Flavonoids from the roots and rhizomes of Sophoratonkinensis and their in vitro anti-SARS-CoV-2 activity / 中国天然药物

Acute respiratory infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had caused a global pandemic since 2019, and posed a serious threat to global health security. Traditional Chinese medicine (TCM) has played an indispensable role in the battle against the epidemic. Many components originated from TCMs were found to inhibit the production of SARS-CoV-2 3C-like protease (3CLpro) and papain-like protease (PLpro), which are two promising therapeutic targets to inhibit SARS-CoV-2. This study describes a systematic investigation of the roots and rhizomes of Sophora tonkinensis, which results in the characterization of 12 new flavonoids, including seven prenylated flavanones (1-7), one prenylated flavonol (8), two prenylated chalcones (9-10), one isoflavanone (11), and one isoflavan dimer (12), together with 43 known compounds (13-55). Their structures including the absolute configurations were elucidated by comprehensive analysis of MS, 1D and 2D NMR data, and time-dependent density functional theory electronic circular dichroism (TDDFT ECD) calculations. Compounds 12 and 51 exhibited inhibitory effects against SARS-CoV-2 3CLpro with IC50 values of 34.89 and 19.88 μmol·L-1, repectively while compounds 9, 43 and 47 exhibited inhibitory effects against PLpro with IC50 values of 32.67, 79.38, and 16.74 μmol·L-1, respectively.

Comparison of CT Values between Thrombus and Postmortem Clot Based on Cadaveric Pulmonary Angiography / 法医学杂志

OBJECTIVES@#To explore the difference in CT values between pulmonary thromboembolism and postmortem clot in postmortem CT pulmonary angiography (CTPA) to further improve the application value of virtual autopsy.@*METHODS@#Postmortem CTPA data with the definite cause of death from 2016 to 2019 were collected and divided into pulmonary thromboembolism group (n=4), postmortem clot group (n=5), and control group (n=5). CT values of pulmonary trunk and left and right pulmonary artery contents in each group were measured and analyzed statistically.@*RESULTS@#The average CT value in the pulmonary thromboembolism group and postmortem clot group were (168.4±53.8) Hu and (282.7±78.0) Hu, respectively, which were lower than those of the control group (1 193.0±82.9) Hu (P<0.05). The average CT value of the postmortem clot group was higher than that of the pulmonary thromboembolism group (P<0.05).@*CONCLUSIONS@#CT value is reliable and feasible as a relatively objective quantitative index to distinguish pulmonary thromboembolism and postmortem clot in postmortem CTPA. At the same time, it can provide a scientific basis to a certain extent for ruling out pulmonary thromboembolism deaths.

Expert consensus on the detection of genome-wide copy number variations in abortive tissues and family reproductive consultation / 中华医学遗传学杂志

Chromosomal aberrations including numerical abnormalities and segment duplications/deletions, as genome-wide copy number variations (CNVs), are a leading cause for spontaneous abortion. Analysis of abortive tissues for such CNVs can detect potential genomic variations in the couple and provide guidance for the choice of appropriate method to avoid further miscarriage or birth of child with chromosomal disorders. With evidence-based clinical data, an expert group jointly formed by the Genetic Disease Prevention and Control Group, Committee for Birth Defects Prevention and Control, Chinese Association of Preventive Medicine; the Clinical Genetics Group, the Society of Medical Genetics, Chinese Medical Association; the Professional Committee for Prenatal Diagnosis of Genetic Diseases, the Society of Medical Geneticists, Chinese Medical Doctor Association has discussed and formulated this consensus, with an aim to provide guidance for the application of genomic CNVs detection for the abortive tissue and genetic counseling for family reproduction.

The commencement and practice of parenteral nutrition globally and in China / 中华临床营养杂志

The aim of this work is to delineate the odyssey of parenteral nutrition (noun number: 01.080), which is also called intravenous nutrition. Robert Elman (a surgeon) administered fibrinogen hydrolysate intravenously to dogs and observed the positive nitrogen balance in 1937. Corresponding report about this clinical research was published later on. Oscar Schuberth (a surgeon) and Arvid Wretlind (an internist) developed the soybean oil emulsion with good tolerability and infused a mixture of glucose, amino acids and fat emulsion into patients for the first time. Stanley Dudrick (a surgeon) carried out laboratory studies, such as infusion of 30% glucose through the central vein, selection of materials for silicone rubber catheter, monitoring of nitrogen balance, and so on. He validated that the growth and development of beagle could be supported with parenteral nutrition. Douglas Wilmore (a surgeon) applied parenteral nutrition to a baby girl with congenital stenosis of alimentary tract and thus initially validated the effectiveness of parenteral nutrition in human after 18 months' observation. All mentioned above are landmarks in the history of parenteral nutrition.The development of it is a rugged but interesting journey parenteral nutrition, exemplifying the general principles and methodology of scientific researches. Fifty-six years passing by since the commencement, now, it is time to march into Phase 3 translational (T3) research for parenteral nutrition. T3 clinical researches in parenteral and enteral nutrition is now in the ascendant in China. By looking back at the odyssey, we would like to highlight the necessity of incessant optimization and standardization of parenteral and enteral nutrition practice, to eventually achieve the rational use of nutrition support therapy and bring about patient benefits.

Association of stress hyperglycemia with occurrence and prognosis of sepsis-associated encephalopathy / 中华急诊医学杂志

Objective:To investigate whether stress hyperglycemia (SH) is an independent risk factor for the occurrence and mortality of sepsis-associated encephalopathy (SAE).Methods:From August 2016 to October 2021, sepsis patients admitted to the ICU of Guangdong Provincial People's Hospital were selected as the study subjects. According to whether they developed to SH (RBG>11.1 mmol/L) within 7 days of enrollment, the pat ients were divided into the SH group and the non-SH group for analysis. Logistic regression was used to analyze whether SH was an independent risk factor for SAE occurrence, and ROC curve was used to analyze the predictive value of SH to SAE. Kaplan-Meier curve was used to compare the 90-day survival of SAE patients with or without SH. Cox regression analysis was used to analyze the risk factors of 28-day and 90-day death in SAE patients.Results:A total of 183 sepsis patients were included, including 62 patients in the SH group and 121 in the non-SH group. Logistic regression analysis demonstrated that SH was an independent risk factor for SAE ( OR=4.452, 95% CI: 2.021-9.808, P <0.001). ROC curve demonstrated that SH could accurately predict SAE (AUC=0.831; Sensitivity=78.4%; Specificity=76.8%; and Yoden index=0.553). Kaplan-Meier curve demonstrated that the 90-day survival of SAE patients with SH significantly declined (log-rank test: P<0.01). Cox regression analysis suggested that SH was a risk factor for death at day 28 and day 90 in SAE patients (28 d, HR=2.272, 95% CI: 1.212-4.260, P=0.010; 90 d, HR=2.456, 95% CI: 1.400-4.306, P<0.01). Conclusions:SH is an independent risk factor for SAE and can predict SAE occurrence. SH significantly reduces 90-day survival and increase mortality at 28 and 90 days in SAE patients.

Development and evaluation of a mortality risk prediction model for severe bacterial infections in children / 中华急诊医学杂志

Objective:To establish a mortality risk prediction model of severe bacterial infection in children and compare it with the pediatric early warning score (PEWS), pediatric critical illness score (PCIS) and pediatric risk of mortality score Ⅲ (PRISM Ⅲ).Methods:A total of 178 critically ill children were selected from the PICU of the Children's Hospital of Nanjing Medical University from May 2017 to June 2022. After obtaining the informed consent of the parents/guardians, basic information such as sex, age, height and weight, as well as indicators such as heart rate, systolic blood pressure and respiratory rate were collected from all children. A standard questionnaire was used to score the child 24 h after admission to the PICU. The children were divided into the survival and death groups according to their survival status at 28 d after admission. A mortality risk prediction model was constructed and nomogram was drawn. The value of the mortality risk prediction model, PEWS, PCIS and PRISM in predicting the risk of death was assessed and compared using the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC).Results:Among the 178 critically ill children, 11 cases were excluded due to severe data deficiencies and hospitalization not exceeding 24 h. A total of 167 children were included in the analysis, including 134 in the survival group and 33 in the death group. A mortality risk prediction model for children with severe bacterial infection was constructed using pupillary changes, state of consciousness, skin color, mechanical ventilation, total cholesterol and prothrombin time. ROC curve analysis showed that the AUCs of mortality risk prediction model was 0.888 ( P<0.05). The AUCs of PEWS, PCIS and PRISM Ⅲ in predicting death in children with severe bacterial infection were 0.769 ( P< 0.05), 0.575 ( P< 0.05) and 0.759 ( P< 0.05), respectively. Hosmer-Lemeshow goodness-of-fit test showed the best agreement between risk of death and PEWS predicted morbidity and mortality and actual morbidity and mortality (χ 2 = 5.180, P = 0.738; χ 2 = 4.939, P = 0.764), and the PCIS and PRISM Ⅲ predicted mortality rates fitted reasonably well with actual mortality rates (χ 2= 9.110, P= 0333; χ 2 = 8.943, P= 0.347). Conclusions:The mortality risk prediction model for predicting the death risk has better prognostic value than PEWS, PCIS and PRISM Ⅲ for children with severe bacterial infection.

Reflection on the teaching of laboratory interns under the corona virus disease 2019 / 中华医学教育探索杂志

In the new or variant acute respiratory infectious diseases, as a result of the not fully discovered ways to control the infection as well as the not fully defined pathogenicity of pathogens, there is still a greater risk of infection for the laboratory front-line staff who are in close contact with pathogen samples. Therefore, the psychological status, biological safety, and work quality of the interns in the laboratory are also main concerns of the teaching hospitals in the epidemic prevention and control work. In view of the problems exposed in the epidemic situation of viral respiratory infectious diseases, this paper analyzes the influence of the whole process of the test on the test results and carries out the process control, aiming at enhancing the interns' ability to resist pressure, improving the students' awareness of biological safety, promoting the interns' comprehensive analysis ability and the formation of clinical critical thinking, and providing reference for the training qualified medical laboratory professionals.

Nutritional support therapy after GLIM criteria may neglect the benefit of reducing infection complications compared with NRS 2002-Re analysis based on a prospective cohort study / 中华临床营养杂志

The inconsistency of diagnostic criteria for malnutrition has confused clinicians since the 1980s. After the implementation of disease diagnosis related group payment (DRG) in China's public hospitals, the diagnosis of malnutrition and the correct documentation of nutrition-related diagnosis on the front sheet of medical records are related to the correct classification of the disease group and the medical insurance payment. Therefore, the reliable diagnostic criteria for malnutrition, especially disease-related malnutrition, is urgently needed in clinical practice. In September 2018, The global leadership Iinitiative on malnutrition (GLIM) diagnostic criteria consensus was launched. GLIM aimed to provide the explicit and unified diagnostic criteria for malnutrition in adult hospitalized patients. However, GLIM criteria was based on the voting by nutritional experts and was merely a consensus in nature. The clinical validity of GLIM criteria needs prospective verification, i.e., to demonstrate that patients with malnutrition as per GLIM criteria could have improved clinical outcomes with reasonable nutritional interventions. In November 2020, the article titled Nutritional support therapy after GLIM criteria may neglect the benefit of reducing infection complications compared with NRS 2002 was published on the journal Nutrition. It was the first study comparing nutritional risk screening 2002 (NRS 2002) and GLIM malnutrition diagnostic criteria among Chinese patients for the indication of nutritional support therapy. The clinical effectiveness of the two tools was retrospectively verified as well. Here we discussed the key points of this retrospective study, including the critical research methods, to inform the currently ongoing prospective validation of the GLIM malnutrition diagnostic criteria (the item of reduced muscle mass not included).

BRICS report of 2021: The distribution and antimicrobial resistance profile of clinical bacterial isolates from blood stream infections in China / 中华临床感染病杂志

Objective:To report the results of national surveillance on the distribution and antimicrobial resistance profile of clinical bacterial isolates from bloodstream infections in China in 2021.Methods:The clinical bacterial strains isolated from blood culture from member hospitals of Blood Bacterial Resistant Investigation Collaborative System (BRICS) were collected during January 2021 to December 2021. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical Laboratory Standards Institute (CLSI). WHONET 5.6 was used to analyze data.Results:During the study period, 11 013 bacterial strains were collected from 51 hospitals, of which 2 782 (25.3%) were Gram-positive bacteria and 8 231 (74.7%) were Gram-negative bacteria. The top 10 bacterial species were Escherichia coli (37.6%), Klebsiella pneumoniae (18.9%), Staphylococcus aureus (9.8%), coagulase-negative Staphylococci (6.3%), Pseudomonas aeruginosa (3.6%), Enterococcus faecium (3.6%), Acinetobacter baumannii (2.8%), Enterococcus faecalis (2.7%), Enterobacter cloacae (2.5%) and Klebsiella spp (2.1%). The prevalence of methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-resistant coagulase-negative Staphylococcus aureus were 25.3% and 76.8%, respectively. No glycopeptide- and daptomycin-resistant Staphylococci was detected; more than 95.0% of Staphylococcus aureus were sensitive to ceftobiprole. No vancomycin-resistant Enterococci strains were detected. The rates of extended spectrum B-lactamase (ESBL)-producing isolated in Escherichia coli, Klebsiella pneumoniae and Proteus mirabilis were 49.6%, 25.5% and 39.0%, respectively. The prevalence rates of carbapenem-resistance in Escherichia coli and Klebsiella pneumoniae were 2.2% and 15.8%, respectively; 7.9% of carbapenem-resistant Klebsiella pneumoniae was resistant to ceftazidime/avibactam combination. Ceftobiprole demonstrated excellent activity against non-ESBL-producing Escherichia coli and Klebsiella pneumoniae. Aztreonam/avibactam was highly active against carbapenem-resistant Escherichia coli and Klebsiella pneumoniae. The prevalence rate of carbapenem-resistance in Acinetobacter baumannii was 60.0%, while polymyxin and tigecycline showed good activity against Acinetobacter baumannii (5.5% and 4.5%). The prevalence of carbapenem-resistance in Pseudomonas aeruginosa was 18.9%. Conclusions:The BRICS surveillance results in 2021 shows that the main pathogens of blood stream infection in China are gram-negative bacteria, in which Escherichia coli is the most common. The MRSA incidence shows a further decreasing trend in China and the overall prevalence of vancomycin-resistant Enterococci is low. The prevalence of Carbapenem-resistant Klebsiella pneumoniae is still on a high level, but the trend is downwards.

Knowledge, attitude and practice of general practitioners in managing common psychological problems in Shenzhen / 中华全科医师杂志

Objective:To investigate the knowledge, attitude and practice of general practitioners (GPs) in Shenzhen towards managing patients with common mental health problems.Methods:It was a cross-sectional study, from September 19 to October 31, 2020, 500 GPs from 100 community health centers (CHC) in 10 districts of Shenzhen municipality were randomly selected as the research subjects by stratified random sampling; the survey was conducted by self-filled questionnaire, which included general conditions, knowledge tests of common psychological problems (generalized anxiety disorder, depressive disorder, panic attacks, sleep disorders), GPs′ attitudes to take care of common psychological problems, and GPs′ practice of caring for common psychological problems.Results:A total of 500 questionnaires were distributed and 329 valid ones were collected. In terms of knowledge, GPs had the highest accuracy of answering the characteristics of depressive disorder (97.3%, 320/329), and the lowest accuracy of case analysis of panic attacks (50.2%, 165/329). In terms of attitude, 71.1%(234/329)of GPs agreed that "common psychological problems should be taken care of",there was a statistically significant difference in attitude scores among GPs with different years of working in CHC ( Z=14.60, P=0.006). In terms of practice, the most encountered mental health problem was insomnia (91.2%, 300/329), 46.5% (153/329) of GPs would use psychological assessment scales, 52.9% (174/329) of GPs would choose direct referral, and there were statistically significant differences in attitude scores among GPs with different years of working ( Z=10.70, P=0.030) and years of working in CHC ( Z=22.14, P<0.001). Conclusions:GPs have a positive attitude in taking care of common psychological problems, but lack of knowledge and confidence. As working in CHC for more years, GPs are more inclined to care for patients with common psychological problems in practice.

Genetic analysis of a gonadal-mosaicism BMD family with prenatal diagnosis and PGT-M / 中华检验医学杂志

Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.

Early-warning value of PCT/PLT ratio on sepsis-induced myocardial injury / 中华急诊医学杂志

Objective:To investigate the diagnostic and early-warning value of laboratory test indicators for sepsis-induced myocardial injury (SIMD).Methods:The clinical data of 183 patients with sepsis admitted to the Department of Emergency and Critical Care Medicine of Guangdong Provincial People's Hospital from August 2016 to October 2020 were collected. The patient's age, gender, past medical history, vital signs and pathogen culture results were extracted. Cardiac function, blood routine, liver function, renal function, inflammatory factors, coagulation function, APACHE Ⅱ and SOFA scores were recorded at enrollment and 72 h after admission. SIMD was defined as cTnT ≥300 pg/mL and NT-proBNP ≥1243 pg/mL twice in 72 h intervals between enrolled cases, and the early-warning factors of patients with SIMD were analyzed. The differences in various indicators between the two groups were compared, and Logistic regression analysis was used to explore the diagnostic efficacy of cTnT and NT-proBNP combined for SIMD, and the correlation between PCT/PLT ratio and the occurrence of SIMD.Results:Among 250 patients, 67 patients were excluded for lack of the main indicators, and 183 patients (including 62 patients with history of cardiac disease) were enrolled finally. Among 183 patients with sepsis, 105 patients (57.38%) with cTNT ≥300 pg/mL and NT-proBNP ≥1 243 pg/mL, were diagnosed as myocardial injury; after excluding 62 patients with history of cardiac disease, 59 patients (48.76%) with cTNT ≥300 pg/mL and NT-proBNP ≥1 243 pg/mL were diagnosed as myocardial injury. Logistic regression analysis showed that increased PCT/PLT ratio ( OR=1.585, 95% CI: 1.124-2.237, P=0.009) was an independent risk factor for early-warning of SIMD. The PCT/PLT ratio ( OR= 1.850, 95% CI: 1.103-3.102, P=0.020) could stably predict the occurrence of SIMD in patients without previous history of heart disease. ROC curve analysis showed that PCT/PLT ratio could effectively predict the occurrence of SIMD (AUC=0.693, 95% CI: 0.617-0.769, P<0.001), the optimal cut-off value was 0.177 (sensitivity: 65.7%, specificity: 66.7%). The PCT/PLT ratio was still effective in predicting the occurrence of SIMD after excluding patients with previous history of heart disease (AUC=0.733, 95% CI: 0.643-0.823, P<0.001), and the optimal cut-off value was 0.429 (sensitivity: 55.9%, specificity: 83.9%). Conclusions:The combination of cTnT and NT-proBNP has certain diagnostic value for SIMD, and the PCT/PLT ratio could warn the occurrence of SIMD.

Clinical features and treatment effect of enzyme replacement therapy in patients with Fabry disease / 中华肾脏病杂志

Objective:To analyze the clinical features, efficacy and adverse reactions of enzyme replacement therapy (ERT) in patients with Fabry disease (FD).Methods:The clinical data of FD patients in Shandong Provincial Hospital Affiliated to Shandong First Medical University from June 2020 to September 2021 were collected and the clinical manifestations, laboratory examinations, gene mutations, and efficacy and adverse reactions of ERT were retrospectively analyzed.Results:Sixteen patients with FD were enrolled in this study, including 12 typical cases and 4 late-onset cases, with varied clinical manifestations. Compared with late-onset patients, typical patients had younger age of onset ( P=0.001), lower activity of plasma alpha-galactosidase A ( P=0.016) and higher globotriaosylsphingosine (lyso-GL-3, P=0.030). The typical patients [(13.50±10.08) years] and late-onset patients [(10.75±7.27) years] both had long delayed time of diagnosis. In 7 patients who underwent regular 6 ERT, lyso-GL-3 was significantly lower than before ( P=0.018); after 6 treatments, the pain of 5 patients was relieved than before. Three patients with irregular ERT had aggravated symptoms, and 1 case had stroke recurrence during regular treatment. No serious adverse reaction occurred with the use of agalsidase β and α. Conclusions:ERT can effectively reduce the level of plasma lyso-GL-3 in patients with FD and relieve symptoms, and has good safety. But the efficacy of ERT is dose-dependent, and clinical benefits require long-term observation and follow-up. Patients treated with ERT should have good compliance and can receive long-term regular treatment.

Research progress of extracellular vesicle metabolomics in tumor / 中华检验医学杂志

Extracellular vesicles (EVs) can carry a variety of bioactive components including nucleic acids, proteins and small molecule metabolites, and their value in tumor diagnosis and treatment has been widely recognized. However, current studies on EV inclusions mainly focus on RNA and protein, and the role of small molecule metabolites that can most directly reflect the cell state in EV remains unclear. EV metabolomics in cancer research has gradually gained traction in recent years. There are still many challenges in EV metabolomics research due to the complexity of pretreatment and low content of metabolite, but its value in regulating tumor progression and serving as tumor markers has gradually emerged, which is expected to provide new targets for tumor diagnosis and treatment.

Impact of nutrition intervention and physical exercise on muscle mass and body fat among community elderly with sarcopenia: a randomized controlled study / 中华临床营养杂志

Objective:To investigate the impact of nutrition supplementation (whey protein, fish oil and vitamin D) and physical exercise (resistance and aerobic exercise) on muscle mass and body fat metrics among community elderly with sarcopenia.Method:102 eligible sarcopenic participants per inclusion and exclusion criteria were randomized into the control group (routine consultation, n=34) or the groups receiving nutrition supplementation (Nutr, n=34) or nutrition supplementation combined with exercise (Nutr+Ex, n=34) for 12 weeks. Muscle and body fat related indicators were compared across groups pre- and post-intervention. Results:Analysis of covariance showed that all indicators were significantly different between groups (all P<0.05). Further pairwise comparisons showed that compared with controls, patients in Nutr group showed increased appendicular muscle mass (ASM) by 0.837 kg ( P=0.003, 95% CI: 0.301 to 1.372) and decreased fat mass by 2.876 kg ( P<0.01, 95% CI: -3.941 to -1.812), while patients in Nutr+Ex group showed increased ASM by 0.745 kg ( P=0.010, 95% CI: 0.180 to 1.311) and decreased fat mass by 2.928kg ( P<0.01, 95% CI: -4.408 to -1.808). Other muscle-related indicators also increased while fat-related indicators decreased in both Nutr and Nutr+Ex groups. However, there is no significant difference between Nutr and Nutr+Ex groups. Conclusions:Nutrition supplementation and physical exercise contribute to muscle mass and body fat improvement among sarcopenic elderly. Lifestyle intervention based on nutrition intervention is important for the community elderly with sarcopenia.

Application progress of metabolomic analysis based on nuclear magnetic resonance spectroscopy in tumor diagnosis and treatment / 中华检验医学杂志

Nuclear magnetic resonance spectroscopy is one of the main analytical techniques for detecting metabolomics, which has the advantages of simple operation, rapid detection and non-invasive feature. By monitoring the changes of metabolites in the body, it is helpful to deeply understand the mechanism of disease and play a role in the diagnosis and treatment of diseases, but its clinical application has not yet been popularized. In recent years, the application of metabolomics in tumors has increasingly become a research hotspot. Therefore, in order to provide a reference for the research and clinical application of tumor metabolomics, the nuclear magnetic resonance spectroscopy and tumor metabolomics were introduced in this paper, and the application progress of metabolomics analysis based on this technique in early tumor screening, clinical diagnosis and prognosis evaluation were reviewed in this paper.