Objective:To evaluate the clinical value of a capillary electrophoresis-based method for gene diagnosis of hyperphenylalaninemia.Methods:In this single-center prospective study, 40 newborns with suspected hyperphenylalaninemia detected by neonatal liquid chromatography-tandem mass spectrometry screening at Nanjing Maternity and Child Health Care Hospital from February 2021 to February 2023 were included, with 22 males, 18 females and a mean age at diagnosis of 21.93 days.Capillary electrophoresis was used to detect 85 variants of the phenylalanine hydroxylase ( PAH) gene in 40 newborns with suspected hyperphenylalaninemia.The PAH gene of undiagnosed patients was further analyzed by Sanger sequencing.The detection rate, sensitivity and specificity of capillary electrophoresis were calculated. Results:Among these 40 newborns with suspected hyperphenylalaninemia, 71 PAH variants were detected by capillary electrophoresis, 32 patients were clearly diagnosed, only 1 pathogenic variant was found in 5 patients, and no pathogenic variant was found in the last 3 patients.Therefore, the detection rate, sensitivity and specificity of capillary electrophoresis for analysis of the PAH gene were 80.00%, 88.75% and 100%, respectively. Conclusions:The capillary electrophoresis-based method can rapidly, efficiently and accurately detect PAH gene variants at lower cost and is a promising gene detection method for hyperphenylalaninemia in clinical practice.

Primary hepatic cancer is one of the major problems that need to be solved urgently in the field of public health, seriously endangering the life and health of Chinese people. Its treatment mode is multidisciplinary participation and synergy of multiple therapeutic methods. Even though there are many common clinical treatments for liver cancer in China, its therapeutic outcome is still unsatisfactory. yttrium-90 has been applied for more than 20 years, and a large amount of foreign clinical data have been accumulated. Combining the latest literature and clinical practice, the authors describe the clinical application and research progress of yttrium-90 micro-sphere selective internal radiation therapy in primary liver cancer.

Thrombocytopenia is one of the common complications of cirrhotic patients, which can induce an increasing bleeding risk and closely correlate with bleeding following invasive procedures. Consequently, how to respond to thrombocytopenia is crucial for improving the prognosis of patients with cirrhosis. This article reviews the main mechanisms of cirrhosis concurrent with thrombocytopenia, as well as the corresponding clinical management strategies.

Objective:To investigate the safety and short-term efficacy of yttrium-90 [ 90Y] resin microspheres transarterial radioembolization (TARE) for the treatment of initial unresectable malignant hepatic tumor. Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 10 patients with initial unresectable malignant hepatic tumor who were admitted to The First Affiliated Hospital of Army Medical University from June 2022 to June 2023 were collected. All patients were males, aged (57±4)years. Measurement data with normal distribution were represented as Mean± SD, and comparison before and after treatment within the group was conducted using the paired t test. Measurement data with skewed distribution were represented as M( Q1, Q3) or M(range), and comparison before and after treatment within the group was conducted using the paired rank sum test. Count data were described as absolute numbers or proportions. Results:(1) Pre-treatment assessment. All 10 patients completed pre-treatment assessment, with 8 cases undergoing once of technetium 99-polymerised protein perfusion test and 2 cases under-going ≥ twice of technetium 99-polymerised protein perfusion test. The ratio of uptake of techne-tium 99-polymerised protein in tumor tissue to normal tissue, the hepatopulmonary shunting ratio and the therapeutic requirement of 90Y resin microspheres in 10 patients were 5.8±1.2, 4.8%±0.8% and (1.10±0.20)GBq, respectively. (2) Treatment strategy of 90Y resin microspheres TARE. Of the 10 patients, cases treated with whole tumor radioembolisation, radioembolisation of the main target lesion+non-target lesion radiofrequency ablation, radioembolisation of the main target lesion+non-target lesion iodine-125 particles implantation, radioembolisation of the liver lobe or liver segment were 6, 2, 1, 1, respectively. During the treatment period, one elderly case did not receive target therapy combined with immunotherapy due to intolerance, and the remaining 9 cases received target therapy combined with immunotherapy. Of the 10 patients, there were 7 cases receiving once of 90Y resin microspheres TARE, and 3 cases receiving twice of 90Y resin microspheres TARE. (3) Follow-up. All 10 patients were followed up for 4.5(range, 3.0-12.0)months. During the follow-up, none of patient had adverse event associated with 90Y resin microspheres TARE. The tumor diameter, alpha-fetoprotein (AFP), abnormal prothrombin, alanine aminotransferase (ALT), aspartate amino-transferase (AST), albumin (Alb), total bilirubin (TBiL), glutamyltransferase (GGT) of the 10 patients were 96(72,135)mm, 26(6,833)μg/L, 290(56,2 997)Au/L, (36±13)IU/L, (41+16)IU/L, (40±4)g/L, (15.3±4.1)μmol/L, (99±68)IU/L before receiving 90Y microspheres TARE. The above indicators of the 10 patients were 63(43,97)mm, 4(3,357)μg/L, 38(25, 142) Au/L, (40±16)IU/L, (51±28)IU/L, (39±4)g/L, (14.4±1.2) μmol/L, (134±93)IU/L after 90 days of receiving 90Y microspheres TARE. There were significant differences in tumor diameter and abnormal prothrombin ( Z=-2.08, -2.24, P<0.05) and there was no significant difference in AFP, ALT, AST, Alb, TBil, GGT ( Z=-1.27, t=0.63, 1.69, 1.73, 0.67, 1.30, P>0.05). During the follow-up period, 5 cases achieved clinical complete response, 4 cases achieved clinical partial remission, and 1 case experienced non-target lesion progression within 30 days after receiving 90Y resin microspheres TARE. The disease remission rate and disease control rate of the 10 patients were 9/10 and 9/10, respectively. None of patient died during follow-up period. Conclusion:90Y resin microspheres TARE for the treatment of initial unresectable malignant hepatic tumor is safe and feasible, and can achieve satisfactory short-term efficacy when combined with other treatment methods.

Objective:To explore the effectiveness of modified objective structured clinical examination (OSCE) for evaluating the core competencies of new nurses on standardized training in neurosurgery.Methods:Thirty-seven new nurses on standardized training in neurosurgery were evaluated using a modified OSCE protocol that was focused on core competencies required for clinical nursing practice on the basis of a clinical case library, which consisted of diagnostic assessment upon entrance, process teaching evaluation during training, and outcome assessment upon exit, at five OSCE stations (nursing assessment, skill practice, clinical thinking, health education, and humanistic care). SPSS 26.0 was used to perform the t-test and rank sum test. Results:The nurses highly recognized the effectiveness of modified OSCE and were largely satisfied with teaching. There were significant differences at entrance and exit in terms of the mean OSCE score ( t=24.21, P<0.001), independent learning ability ( t=10.29, P<0.001), and the scores of core competencies—good personal traits ( Z=5.24, P<0.001), clinical nursing ability ( Z=5.07, P<0.001), support and interpersonal communication ability ( Z=5.12, P<0.001), critical clinical thinking ability ( Z=5.17, P<0.001), professional construction and self-development ( Z=5.05, P<0.001), and the total score ( Z=5.27, P<0.001). Conclusions:The modified OSCE can comprehensively evaluate the core competencies of new nurses in neurosurgery standardized training, with good feasibility and effectiveness, which provides a reference for teaching management of standardized training programs.

Objective:To assess the utility of whole-genome sequencing (WGS) in predicting Mycobacterium tuberculosis resistance to fluoroquinolones (FQs) and to establish a quantitative relationship between resistant gene mutations and resistance levels. Methods:A total of 296 drug-resistant tuberculosis surveillance strains with various resistance profiles, preserved by the National Tuberculosis Reference Laboratory of the Tuberculosis Prevention and Control Center at the Chinese Center for Disease Control and Prevention between 2013 and 2020, were included as study subjects. The Sensititre? MYCOTBI microplate method and WGS were used to assess the phenotypic and genotypic drug sensitivity of Mycobacterium tuberculosis to ofloxacin and moxifloxacin. Sensitivity, specificity, and concordance (Kappa value) of WGS in predicting fluoroquinolone sensitivity were calculated using phenotypic drug susceptibility testing (DST) results as the gold standard. A summary analysis was conducted on the distribution of drug resistance mutation sites and resistance levels. The paired χ 2 test was used to compare the detection rates between the two methods, with P<0.05 indicating statistical significance. Results:Among the 296 Mycobacterium tuberculosis strains with different resistance profiles, 196 were rifampicin-resistant, 50 were resistant to other drugs, and 50 were fully sensitive. WGS identified 81 strains carrying FQs resistance-related mutations, primarily at gyrA codons 94, 90, and 91. Sensitivity, specificity, and consistency (Kappa value) of WGS in predicting ofloxacin resistance were 86.5%, 98.1%, and 0.87, respectively. For moxifloxacin resistance prediction, these values were 80.0%, 99.5%, and 0.83, respectively. There was no statistically significant difference between the phenotypic DST and WGS detection rates for ofloxacin resistance (30.1% vs 27.4%, χ 2=3.06, P=0.08). However, the phenotypic DST detection rate for moxifloxacin resistance (33.8%, 100/296) was significantly higher than that of WGS (27.4%, 81/296) (χ 2=15.43, P<0.01). Analysis of the distribution of resistance mutation sites and resistance levels showed that different mutation sites corresponded to different minimum inhibitory concentrations (MICs). Multiple mutation combinations, including gyrA_D94G, gyrA_D94Y, and gyrA_D94N were mainly associated with high-level resistance, while gyrA_D94A, gyrA_A90V, and gyrA_S91P were primarily linked to low-level resistance. Conclusion:WGS demonstrates favorable sensitivity, specificity, and consistency in predicting FQs resistance and can partially predict resistance levels.

Massive transfusion protocol (MTP) is a programmatic procedure for massive blood transfusions, which is an important means of patient blood management (PBM) for trauma and massive hemorrhage patients. MTP can be initiated in a variety of modes, including the McLaughlin, ABC and TASH scoring systems and the mode depending on the patient′s hemorheology. After MTP has been activated, blood components should be injected as soon as possible. Generally, red blood cells should be injected first, followed by plasma and platelets injected proportionally. MTP should be based on good damage control measures and good hemostatic treatment, and should try to avoid the waste of blood components.This article reviews the progress of research on MTP in the above aspects.

OBJECTIVE: To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program. METHODS: A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed. RESULTS: NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035. CONCLUSION NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.
Aneuploidy ; Cost-Benefit Analysis ; Female ; Humans ; Noninvasive Prenatal Testing ; Pregnancy ; Retrospective Studies ; Trisomy 18 Syndrome/genetics*

Objective This article takes a cosmetics factory in Yichang City as an example, uses a variety of methodologies to explore methods of health impact assessment and provides methodological references for future health evaluation of related public policies. Methods By analyzing the environmental assessment report of the cosmetic renovation project, an indicator system was established and expert consultation meetings were conducted to score the impact of the corresponding indicators on health. The impact of the renovation project of the factory on the factory workers, surrounding residents and the sustainable development of the environment was analyzed by means of the Kaiser model with the risk matrix and the Borda value. Results The risk values of the five influencing factors of industrial wastewater, domestic wastewater, industrial waste gas, industrial waste and noise were 5.11%, 5.43%, 10.6%, 6.71% and 7.02% respectively. All the influencing factors were in the green zone of the risk matrix. The Borda values of the five influencing factors of industrial waste water, domestic waste water, industrial waste gas, industrial waste residue and noise were 4, 5, 10, 7 and 5 respectively. Conclusion The multiple methodologies adopted in the factory renovation project are feasible, and can provide new ideas for the health impact assessment of public policies in the future.

Advanced intrahepatic cholangiocarcinoma(ICC) is one of the most common hepatic malignant tumors besides hepatocellular carcinoma, with occult onset, limited treatment and poor prognosis. Systemic treatment is a recommendable solution for advanced unresectable ICC. The authors reported the clinical experience of an ICC patient who underwent transarterial chemoembolization combined with immunotherapy plus target therapy.