1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
OBJECTIVE:
To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.
METHODS:
A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).
RESULTS:
Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.
CONCLUSION
The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans
;
Infant, Newborn
;
Neonatal Screening/methods*
;
Female
;
Male
;
Lipid Metabolism, Inborn Errors/epidemiology*
;
Acyl-CoA Dehydrogenase/genetics*
;
China/epidemiology*
;
Follow-Up Studies
2.Impact of muscle strength decline and exercise intervention on multimorbidity of chronic diseases in older adults.
Journal of Central South University(Medical Sciences) 2025;50(5):897-906
Multimorbidity of chronic diseases is one of the most common health issues among older adults, and the resulting demand for long-term medical care and management imposes a considerable burden on healthcare systems. Muscle strength, a core indicator of overall health status, is closely associated with the risk of developing multimorbidity of chronic diseases in older adults. Decline in muscle strength not only increases the risk of multimorbidity of chronic diseases but also interacts with it to exacerbate disease burden. In older adults with existing multimorbidity of chronic diseases, muscle strength decline can impair physical function and quality of life, leading to a vicious cycle of disease progression and physical disability. Strength training can help prevent multimorbidity, with potential mechanisms including the promotion of anti-inflammatory effects and enhancement of mitochondrial energy metabolism. This review summarizes the impact of muscle strength decline on multimorbidity of chronic diseases in older adults and the effectiveness and potential mechanisms of exercise interventions, providing evidence to delay muscle strength decline, prevent the occurrence and progression of multimorbidity of chronic diseases, and improve quality of life in older adults.
Humans
;
Aged
;
Chronic Disease/prevention & control*
;
Muscle Strength/physiology*
;
Multimorbidity
;
Quality of Life
;
Resistance Training
;
Exercise Therapy
;
Exercise
;
Sarcopenia
3.The construction of a hierarchical training curriculum system for neonatal nurses based on core competencies
Shangqing CUI ; Hongqing GUO ; Xiaoyu SHENG ; Qiugui HUO ; Peizhen CHEN ; Yifei YIN ; Yi ZHAO ; Han LI
Chinese Journal of Medical Education Research 2025;24(11):1573-1584
Objective:To construct a hierarchical training course system for neonatal nurses based on core competencies, to provide a reference for meeting the training needs of neonatal nurses under the new situation.Methods:Through literature review, questionnaire survey on training needs, and focus group interviews, a preliminary hierarchical training curriculum system for neonatal nurses was developed. Two rounds of Delphi correspondence were conducted with 19 domestic experts to finalize the system.Results:The effective questionnaire recovery rates of the two rounds of expert consultation were 95.00% and 100.00%, and the expert authority coefficient was 0.916, the Kendall harmony coefficient of the first round of expert opinions was 0.351 ( P<0.001), and the Kendall harmony coefficient of the second round of expert opinions was 0.463 ( P<0.001). The hierarchical training course structure and course training content are formed, including N0: 3 first-level items, 9 second-level items, 80 third-level items, N1: 3 first-level items, 9 second-level items, 91 third-level items, N2: 3 first-level items, 9 second-level items, 86 third-level items, N3: 3 first-level items, 10 second-level items, 81 third-level items, N4: 3 first-level items, 10 second-level items, 76 third-level items. Conclusions:The hierarchical training course system for neonatal nurses based on the core competence of nurses is scientific and practical, which can provide a reference for the hierarchical training of neonatal nurses.
4.Study on the evaluation of the therapeutic effect of Yiqi Huoxue formula combined with antiviral therapy on patients with hepatitis B-related liver fibrosis using the oligosaccharide chain test
Yaoyao MAO ; Jiaming ZHANG ; Peizhen LYU ; Li KONG ; Na FU ; Suxian ZHAO ; Qian WU ; Cuiying CHEN ; Yuemin NAN
Chinese Journal of Hepatology 2025;33(9):880-888
Objective:To explore the impact of the Yiqi Huoxue formula combined with nucleos(t)ide analogs (NAs) antiviral therapy on the serum N-glycan abundance in patients with hepatitis B-related liver fibrosis so as to clarify the application value of the oligosaccharide chain test (GT) for dynamic monitoring of the liver fibrosis progression.Methods:Sixty-two cases diagnosed with chronic hepatitis B at the Department of Hepatology, the Third Hospital of Hebei Medical University, between January 2020 and December 2022 were enrolled and divided into a Yiqi Huoxue Formula (YQHX) combined with NAs group and an NAs monotherapy group ( n=31), with 31 cases in each group for a total of 96 weeks of follow-up. Patient's basic clinical characteristics and liver stiffness measurement (LSM) were collected. GT was used simultaneously to detect the serum N-glycan profile and abundance changes. The nonparametric Mann-Whitney U test was used to compare the differences between the two groups. Enumeration data were expressed as number of cases and percentages (%). The χ2 test was used to compare constituent ratios between two or more groups. Correlation analysis was performed using the Spearman method, with P<0.05 considered statistically significant. Results:The proportion of patients was significantly higher in the YQHX combined with NAs group than the NAs monotherapy group [61.29% (19/31) vs. 9.68% (3/31), P<0.05] with no progression in liver fibrosis staging following 96 weeks of follow-up. The abundance of the N-glycan marker peak 8 [triantennary N-glycan (NA3)] had resulted in significant change for liver fibrosis improvements ( P<0.05), which predicts liver fibrosis progression and reversal in populations sensitive to traditional Chinese medicine. Conclusion:The combined application of Yiqi Huoxue formula and NAs can significantly promote the improvement rate of hepatitis B-related liver fibrosis. Serum N-glycan peak 8 may serve as a potential biomarker for monitoring the reversal of hepatitis B-related liver fibrosis.
5.The construction of a hierarchical training curriculum system for neonatal nurses based on core competencies
Shangqing CUI ; Hongqing GUO ; Xiaoyu SHENG ; Qiugui HUO ; Peizhen CHEN ; Yifei YIN ; Yi ZHAO ; Han LI
Chinese Journal of Medical Education Research 2025;24(11):1573-1584
Objective:To construct a hierarchical training course system for neonatal nurses based on core competencies, to provide a reference for meeting the training needs of neonatal nurses under the new situation.Methods:Through literature review, questionnaire survey on training needs, and focus group interviews, a preliminary hierarchical training curriculum system for neonatal nurses was developed. Two rounds of Delphi correspondence were conducted with 19 domestic experts to finalize the system.Results:The effective questionnaire recovery rates of the two rounds of expert consultation were 95.00% and 100.00%, and the expert authority coefficient was 0.916, the Kendall harmony coefficient of the first round of expert opinions was 0.351 ( P<0.001), and the Kendall harmony coefficient of the second round of expert opinions was 0.463 ( P<0.001). The hierarchical training course structure and course training content are formed, including N0: 3 first-level items, 9 second-level items, 80 third-level items, N1: 3 first-level items, 9 second-level items, 91 third-level items, N2: 3 first-level items, 9 second-level items, 86 third-level items, N3: 3 first-level items, 10 second-level items, 81 third-level items, N4: 3 first-level items, 10 second-level items, 76 third-level items. Conclusions:The hierarchical training course system for neonatal nurses based on the core competence of nurses is scientific and practical, which can provide a reference for the hierarchical training of neonatal nurses.
6.Study on the evaluation of the therapeutic effect of Yiqi Huoxue formula combined with antiviral therapy on patients with hepatitis B-related liver fibrosis using the oligosaccharide chain test
Yaoyao MAO ; Jiaming ZHANG ; Peizhen LYU ; Li KONG ; Na FU ; Suxian ZHAO ; Qian WU ; Cuiying CHEN ; Yuemin NAN
Chinese Journal of Hepatology 2025;33(9):880-888
Objective:To explore the impact of the Yiqi Huoxue formula combined with nucleos(t)ide analogs (NAs) antiviral therapy on the serum N-glycan abundance in patients with hepatitis B-related liver fibrosis so as to clarify the application value of the oligosaccharide chain test (GT) for dynamic monitoring of the liver fibrosis progression.Methods:Sixty-two cases diagnosed with chronic hepatitis B at the Department of Hepatology, the Third Hospital of Hebei Medical University, between January 2020 and December 2022 were enrolled and divided into a Yiqi Huoxue Formula (YQHX) combined with NAs group and an NAs monotherapy group ( n=31), with 31 cases in each group for a total of 96 weeks of follow-up. Patient's basic clinical characteristics and liver stiffness measurement (LSM) were collected. GT was used simultaneously to detect the serum N-glycan profile and abundance changes. The nonparametric Mann-Whitney U test was used to compare the differences between the two groups. Enumeration data were expressed as number of cases and percentages (%). The χ2 test was used to compare constituent ratios between two or more groups. Correlation analysis was performed using the Spearman method, with P<0.05 considered statistically significant. Results:The proportion of patients was significantly higher in the YQHX combined with NAs group than the NAs monotherapy group [61.29% (19/31) vs. 9.68% (3/31), P<0.05] with no progression in liver fibrosis staging following 96 weeks of follow-up. The abundance of the N-glycan marker peak 8 [triantennary N-glycan (NA3)] had resulted in significant change for liver fibrosis improvements ( P<0.05), which predicts liver fibrosis progression and reversal in populations sensitive to traditional Chinese medicine. Conclusion:The combined application of Yiqi Huoxue formula and NAs can significantly promote the improvement rate of hepatitis B-related liver fibrosis. Serum N-glycan peak 8 may serve as a potential biomarker for monitoring the reversal of hepatitis B-related liver fibrosis.
7.Prokaryotic expression and anticoagulant activity of Boophilin-H2, a protease inhibitor of Rhipicephalus Linnaei Kunitz type
ZHAO Peizhen ; LI Yao ; YU Lingling
China Tropical Medicine 2024;24(9):1106-
Objective To clone Rhipicephalus linnaei Boophilin-H2 gene, construct the recombinant expression vector, express the Boophilin-H2 recombinant protein in Escherichia coli, and assess its anticoagulant activity. Methods Specific primers were designed to amplify the Boophilin-H2 gene fragment using cDNA, synthesized from engorged Rhipicephalus linnaei tick RNA through reverse transcription, as a template. The gene fragment was cloned and connected to plasmid pSmart-I, and the recombinant expression vector pSmart-I/Boophilin-H2 was constructed. The recombinant expression vector was verified by double restriction enzyme digestion with BamHⅠand XhoⅠ, transferred into the competent state of Escherichia coli BL21(DE3, and expressed under low-temperature induction with IPTG. The recombinant protein was purified by Ni-NTA Resin, and its expression and purification were detected by 12.5% SDS-PAGE. The femoral venous blood of New Zealand white rabbits was collected by 3.8% sodium citrate blood collection tube, and the upper plasma was centrifugally separated to measure the anticoagulant activity of the recombinant protein using four test plates of in vitro coagulation. Results A 387 bp gene fragment of Boophilin-H2 of Rhipicephalus linnaei was successfully amplified and cloned; the prokaryotic expression vector pSmart-I/Boophilin-H2 was constructed and verified by double enzyme digestion. Following induction with 0.8 mmol/L IPTG for 16 hours in Escherichia coli, SDS-PAGE showed that the recombinant protein was expressed in the supernatant primarily in a soluble form, with the Boophilin-H2 recombinant protein approximately 35 000 in size. The anticoagulant activity assays of the purified recombinant protein Boophilin-H2 showed that the recombinant protein significantly prolongs the activated partial thromboplastin time (APTT) in a concentration-dependent manner, while its effects on thrombin time (TT), prothrombin time (PT), and fibrinogen (FIB) levels were not significant. Conclusions The expression vector for Boophilin-H2 was successfully constructed, and its product exhibited potent APTT anticoagulant activity, implying its role in the intrinsic coagulation pathway, possibly acting upon intrinsic coagulation factors VIII, XI, and XII to inhibit blood coagulation. This study provides a reference and theoretical foundation for further research and development of tick control vaccines and anticoagulant drugs.
8.Scanning electron microscopic observation of morphology of Rhipicephalus sanguineus at different developmental stages in Hainan Province
LIANG Dejuan ; AN Liping ; LI Yao ; ZHAO Peizhen ; GUAN Qingfeng ; ZHAO Jianguo
China Tropical Medicine 2023;23(9):930-
Abstract: Objective To understand the morphological characteristics and ultrastructure of the dominant species of Rhipicephalus sanguineus in Hainan at different developmental stages, and provide theoretical basis for the identification of the lineage and control of Rhipicephalus sanguineus. Methods The external morphology of different developmental stages of the dominant species of Rhipicephalus sanguineus, including larva, nymph and adult tick in Hainan were observed by scanning electron microscope. Results The division between each segment of larva pedipalps was not obvious, and setae was serrated; dental formula type 2 | 2; 3 pairs of podomere; a pair of setae on the anal valve; none of anal groove, spiracular plate, porous area and genital aperture. There was a clear boundary at the beginning of each segment of nymph pedipalps; dental formula type 2 | 2; 4 pairs of podomere; 3 pairs of setae on the anal valve; anal groove; none of porous area and genital aperture. The male adult tick's trichotheca are covered by the pedipalps, and the whole bristles are conical; dental formula type 3 | 3; 4 pairs of podomere; anal groove and paraprocts; 7 setae on the anal valve; genital aperture was oval. The female of adult tick can be distinguished by dental formula 3 | 3; pairs of podomere; porous areas with 3 short setae; anal groove; 4 pairs of setae and 2 pores on the anal valve; genital pore was broadly U-shaped. In addition, the male adult's scutum occupies almost the entire dorsal surface, the basis capituli of larva, nymph and adult tick all were hexagonal, and the existence of Haller's organ was found on the first pair of legs. Conclusions Scanning electron microscopy observation of the different developmental stages of R.sanguineus revealed clear morphological features, preliminarily suggesting that R.sanguineus in Hainan Province may belong to the tropical lineage, which provide a certain experimental basis for the identification of the tick and the comprehensive prevention and control of local tick-borne diseases.
9.Interobserver Agreement and Reliability of Intrapartum Nonreassuring Cardiotocography and Prediction of Neonatal Acidemia
Zhuyu LI ; Yan WANG ; Jian CAI ; Peizhen ZHAO ; Hanqing CHEN ; Haiyan LIU ; Lixia SHEN ; Lian CHEN ; Shufang LI ; Yangyu ZHAO ; Zilian WANG
Maternal-Fetal Medicine 2022;04(2):95-102
Objective::To evaluate the agreement and reliability of intrapartum nonreasurring cardiotocography (CTG) interpretation and prediction of neonatal acidemia by obstetricians working in different centers.Methods::A retrospective cohort study involving two tertiary hospitals (The First Affiliated Hospital of Sun Yat-sen University and Perking University Third Hospital) was conducted between 30 th September 2018 and 1 st April 2019. Six obstetricians from two hospitals with three levels of experience (junior, medium, and senior) reviewed 100 nonreassuring fetal heart rate (FHR) tracings from 1 hour before the onset of abnormalities until delivery. Each reviewer determined the FHR pattern, the baseline, variability, and presence of acceleration, deceleration, sinusoidal pattern, and predicted whether neonatal acidemia and abnormal umbilical arterial pH < 7.1 would occur. Inter-observer agreement was assessed using the proportions of agreement (Pa) and the proportion of specific agreement (Pa for each category). Reliability was evaluated with the kappa statistic (k-Light’s kappa for n raters) and Gwet’s AC1 statistic. Results::Good inter-observer agreement was found in evaluation of most variables (Pa>0.5), with the exception of early deceleration (Pa= 0.39, 95% confidence interval ( CI): 0.36,0.43). Reliability was also good among most variables (AC1 > 0.40), except for acceleration, early deceleration, and prediction of neonatal acidemia (AC1 = 0.17, 0.10, and 0.25, respectively). There were no statistically significant differences among the three groups, except in the identification of accelerations (Pa = 0.89, 95% CI: 0.83,0.95; Pa= 0.50, 95% CI: 0.41,0.60, and Pa= 0.35, 95% CI: 0.25,0.43 in junior, medium and senior groups, respectively) and the prediction of neonatal acidemia (Pa= 0.52, 0.52, and 0.62 in junior, medium and senior groups, respectively), where agreement was highest and lowest in the junior-level group, respectively. The accuracy and sensitivity of the prediction for umbilical artery pH < 7.1 were similar among the three groups, but the specificity was higher in the senior groups (93.68% vs. 92.53% vs. 98.85% in junior, medium and senior groups, P= 0.015). Conclusion::Although we found a good inter-observer agreement in the evaluation of the most basic CTG features and FHR category statistically, it was insufficient to meet the clinical requirements for "no objection" interpretation for FHR tracings. Further specialized training is needed for standardized interpretation of intrapartum FHR tracings.
10.Interobserver Agreement and Reliability of Intrapartum Nonreassuring Cardiotocography and Prediction of Neonatal Acidemia
Zhuyu LI ; Yan WANG ; Jian CAI ; Peizhen ZHAO ; Hanqing CHEN ; Haiyan LIU ; Lixia SHEN ; Lian CHEN ; Shufang LI ; Yangyu ZHAO ; Zilian WANG
Maternal-Fetal Medicine 2022;04(2):95-102
Objective::To evaluate the agreement and reliability of intrapartum nonreasurring cardiotocography (CTG) interpretation and prediction of neonatal acidemia by obstetricians working in different centers.Methods::A retrospective cohort study involving two tertiary hospitals (The First Affiliated Hospital of Sun Yat-sen University and Perking University Third Hospital) was conducted between 30 th September 2018 and 1 st April 2019. Six obstetricians from two hospitals with three levels of experience (junior, medium, and senior) reviewed 100 nonreassuring fetal heart rate (FHR) tracings from 1 hour before the onset of abnormalities until delivery. Each reviewer determined the FHR pattern, the baseline, variability, and presence of acceleration, deceleration, sinusoidal pattern, and predicted whether neonatal acidemia and abnormal umbilical arterial pH < 7.1 would occur. Inter-observer agreement was assessed using the proportions of agreement (Pa) and the proportion of specific agreement (Pa for each category). Reliability was evaluated with the kappa statistic (k-Light’s kappa for n raters) and Gwet’s AC1 statistic. Results::Good inter-observer agreement was found in evaluation of most variables (Pa>0.5), with the exception of early deceleration (Pa= 0.39, 95% confidence interval ( CI): 0.36,0.43). Reliability was also good among most variables (AC1 > 0.40), except for acceleration, early deceleration, and prediction of neonatal acidemia (AC1 = 0.17, 0.10, and 0.25, respectively). There were no statistically significant differences among the three groups, except in the identification of accelerations (Pa = 0.89, 95% CI: 0.83,0.95; Pa= 0.50, 95% CI: 0.41,0.60, and Pa= 0.35, 95% CI: 0.25,0.43 in junior, medium and senior groups, respectively) and the prediction of neonatal acidemia (Pa= 0.52, 0.52, and 0.62 in junior, medium and senior groups, respectively), where agreement was highest and lowest in the junior-level group, respectively. The accuracy and sensitivity of the prediction for umbilical artery pH < 7.1 were similar among the three groups, but the specificity was higher in the senior groups (93.68% vs. 92.53% vs. 98.85% in junior, medium and senior groups, P= 0.015). Conclusion::Although we found a good inter-observer agreement in the evaluation of the most basic CTG features and FHR category statistically, it was insufficient to meet the clinical requirements for "no objection" interpretation for FHR tracings. Further specialized training is needed for standardized interpretation of intrapartum FHR tracings.

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