OBJECTIVE: To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region. METHODS: From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay. RESULTS: Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05). CONCLUSION This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans ; Infant, Newborn ; Glucosephosphate Dehydrogenase Deficiency/epidemiology* ; Glucosephosphate Dehydrogenase/genetics* ; Female ; Male ; Mutation ; China/epidemiology*

BACKGROUND: The potential impact of pre-existing coronary artery stenosis (CAS) on right ventricular (RV) function during acute pulmonary embolism (PE) episodes remains underexplored. This study aimed to investigate the association between pre-existing CAS and RV dysfunction in patients with acute PE. METHODS: In this multicenter, case-control study, 89 cases and 176 controls matched for age were enrolled at three study centers (Peking Union Medical College Hospital, Fuwai Hospital, and the Second Affiliated Hospital of Harbin Medical University) from January 2016 to December 2020. The cases were patients with acute PE with CAS, and the controls were patients with acute PE without CAS. Coronary artery assessment was performed using coronary computed tomographic angiography. CAS was defined as ≥50% stenosis of the lumen diameter in any coronary vessel >2.0 mm in diameter. Conditional logistic regression analysis was used to evaluate the association between CAS and RV dysfunction. RESULTS: The percentages of RV dysfunction (19.1% [17/89] vs. 44.6% [78/176], P <0.001) and elevated systolic pulmonary artery pressure (sPAP) (19.3% [17/89] vs. 39.5% [68/176], P = 0.001) were significantly lower in the case group than those in the control group. In the multivariable logistic regression model, CAS was independently and negatively associated with RV dysfunction (adjusted odds ratio [OR]: 0.367; 95% confidence interval [CI]: 0.185-0.728; P = 0.004), and elevated sPAP (OR: 0.490; 95% CI: 0.252-0.980; P = 0.035), respectively. CONCLUSIONS Pre-existing CAS was significantly and negatively associated with RV dysfunction and elevated sPAP in patients with acute PE. This finding provides new insights into RV dysfunction in patients with acute PE with pre-existing CAS.
Humans ; Pulmonary Embolism/complications* ; Case-Control Studies ; Male ; Ventricular Dysfunction, Right/physiopathology* ; Female ; Middle Aged ; Aged ; Coronary Stenosis/complications* ; Logistic Models ; Adult

The transcriptome sequencing based on Illumina Novaseq 6000 Platform was performed with the untreated seed embryo(DS), stratified seed embryo(SS), and germinated seed embryo(GS) of Zanthoxylum nitidum, aiming to explore the molecular mechanism regulating the seed dormancy and germination of Z. nitidum and uncover key differentially expressed genes(DEGs). A total of 61.41 Gb clean data was obtained, and 86 386 unigenes with an average length of 773.49 bp were assembled. A total of 29 290 DEGs were screened from three comparison groups(SS vs DS, GS vs SS, and GS vs DS), and these genes were annotated on 134 Kyoto Encyclopedia of Genes and Genomes(KEGG) pathways. KEGG enrichment analysis revealed that the plant hormone signal transduction pathway is the richest pathway, containing 226 DEGs. Among all DEGs, 894 transcription factors were identified, which were distributed across 34 transcription factor families. These transcription factors were also mainly concentrated in plant hormone signal transduction and mitogen-activated protein kinase(MAPK) signaling pathways. Further real-time quantitative polymerase chain reaction(RT-qPCR) validation of 12 DEGs showed that the transcriptome data is reliable. During the process of seed dormancy release and germination, a large number of DEGs involved in polysaccharide degradation, protein synthesis, lipid metabolism, and hormone signal transduction were expressed. These genes were involved in multiple metabolic pathways, forming a complex regulatory network for dormancy and germination. This study lays a solid foundation for analyzing the molecular mechanisms of seed dormancy and germination of Z. nitidum.
Zanthoxylum/metabolism* ; Plant Dormancy/genetics* ; Seeds/metabolism* ; Gene Expression Regulation, Plant ; Plant Proteins/metabolism* ; Transcriptome ; Gene Expression Profiling ; Germination ; Transcription Factors/metabolism* ; Plant Growth Regulators/genetics* ; Signal Transduction

Image 1.

Objective:To compare the differences in inhaled medication prescriptions among patients with chronic obstructive pulmonary disease (COPD) who visited the Global Initiative for Chronic Obstructive Pulmonary Disease (GOLD 2023) one year after its release and the previous year, and to analyze the impact of GOLD 2023 on physician inhaled medication prescriptions.Methods:This study was a cross-sectional study, with data sourced from the RealDTC study. The study subjects were chronic obstructive pulmonary disease patients who visited the respiratory and critical care departments of 13 hospitals in southern China from November 14, 2021 to November 15, 2023. According to the time of patient visits, they are divided into the following two groups: the group 1 year before the release of GOLD 2023 (November 14, 2021 to November 14, 2022), and the group 1 year after the release of GOLD 2023 (November 15, 2022 to November 15, 2023). We collected demographic characteristics, lung function, symptom scores, history of acute exacerbation in the past year, and inhaled medication prescriptions from patients. According to the symptom score of COPD patients in GOLD 2023 and their history of acute exacerbation in the past year, they were divided into three groups: A, B, and E. The treatment status of inhaled drugs in groups A, B, and E before and after the release of GOLD 2023 was compared.Results:There were statistically significant differences in COPD Assessment Test (CAT) scores, Modified Medical Research Council (mMRC) scores, and the number of acute exacerbations in the past year between patients with COPD before and after the release of GOLD 2023 (all P<0.05). Compared with the group one year before the release of GOLD 2023, the proportion of patients in the group one year after the release of GOLD 2023 using long-acting muscarinic antagonists (LAMA) and inhaled corticosteroids (ICS)+ long-acting β2-receptor agonists (LABA) was lower, while the proportion of patients using LABA+ LAMA and ICS+ LABA+ LAMA was higher (all P<0.05). There was no statistically significant difference ( P>0.05) in the proportion of patients in group A using LAMA between the year before and after the release of GOLD 2023. Compared to the year before the release of GOLD 2023, the proportion of patients in group A who prescribed ICS+ LABA was lower, while the proportion of using LABA+ LAMA and ICS+ LABA+ LAMA was higher (all P<0.05); The proportion of patients in group B who prescribed LAMA and ICS+ LABA was lower (all P<0.05), while the proportion of using LABA+ LAMA and ICS+ LABA+ LAMA was higher (all P<0.05); The proportion of patients in group E who prescribed LAMA and ICS+ LABA was lower (all P<0.05), while the proportion of using LABA+ LAMA and ICS+ LABA+ LAMA was higher (all P<0.05). Conclusions:After the release of GOLD 2023, the prescription of ICS+ LAMA in groups A, B, and E decreased, and the prescriptions of LABA+ LAMA and ICS+ LABA+ LAMA increased compared to before; However, in the real world, the compliance of physicians with GOLD 2023 is still not ideal.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective:To evaluate the impact of self-crosslinked hyaluronic acid (SCH) gel on endometrium recovery after artificial abortion.Methods:A multicenter, prospective randomized controlled trial was conducted across 18 hospitals from December 2021 to February 2023, involving 382 women who underwent artificial abortion. Participants were randomly allocated to receive either treatment with SCH gel (SCH group) or no treatment (control group) in a 1∶1 ratio. The primary outcome was endometrium thickness in 14 to 18 days after the first postoperative menstruation. Secondary outcomes included changes in menstrual volume during the first postoperative menstruation, menstruation resumption within 6 postoperative weeks, time to menstruation resumption, duration of the first postoperative menstruation, and incidence of dysmenorrhea.Results:Baseline characteristics of participants were comparable between the two groups (all P>0.05), with 95.3% (182/191) in SCH group and 92.7% (177/191) in the control group completed the study. The postoperative endometrial thickness in SCH group was significantly greater than that in the control group [(9.78±3.15) vs (8.95±2.32) mm; P=0.005]. SCH group also had significantly fewer participants with reduced menstrual volume [23 cases (12.6%, 23/182) vs 31 cases (17.5%, 31/177); P=0.038]. Although SCH group experienced less dysmenorrhea during the first postoperative menstrual period, this difference was not statistically significant [28.5% (51/179) vs 37.1% (65/175); P=0.083]. Outcomes were similar between SCH group and the control group regarding the proportion of participants who resumed menstruation within 6 weeks postoperatively, time to menstruation resumption, and duration of the first postoperative menstruation ( P=0.792, 0.485, and 0.254, respectively). No serious adverse events were observed during the study period, and no adverse events were attributed to SCH gel treatment. Conclusion:The application of SCH gel after artificial abortion is safe and might aid in the recovery of the endometrium.

Objective:To explore the role of mechanical hemodynamic support (MHS) in mapping and catheter ablation of patients with hemodynamically unstable ventricular tachycardia (VT), report single-center experience in a cohort of consecutive patients receiving VT ablation during MHS therapy, and provide evidence-based medical evidence for clinical practice.Methods:This was a retrospective cohort study. Patients with hemodynamically unstable VT who underwent catheter ablation with MHS at Beijing Anzhen Hospital, Capital Medical University between August 2021 and December 2023 were included. Patients were divided into rescue group and preventive group according to the purpose of treatment. Their demographic data, periprocedural details, and clinical outcomes were collected and analyzed.Results:A total of 15 patients with hemodynamically unstable VT were included (8 patients in the rescue group and 7 patients in the preventive group). The acute procedure was successful in all patients. One patient in the rescue group had surgical left ventricular assist device (LVAD) implantation, remaining 14 patients received extracorporeal membrane oxygenation (ECMO) for circulation support. ECMO decannulation was performed in 12 patients due to clinical and hemodynamic stability, of which 6 patients were decannulation immediately after surgery and the remaining patients were decannulation at 2.0 (2.5) d after surgery. Two patients in the rescue group died during the index admission due to refractory heart failure and cerebral hemorrhage. During a median follow-up of 30 d (1 d to 12 months), one patient with LVAD had one episode of ventricular fibrillation at 6 months after discharge, and no further episodes of ventricular fibrillation and/or VT occurred after treatment with antiarrhythmic drugs. No malignant ventricular arrhythmia occurred in the remaining 12 patients who were followed up.Conclusions:MHS contributes to the successful completion of mapping and catheter ablation in patients with hemodynamically unstable VT, providing desirable hemodynamic status for emergency and elective conditions.

Purpose::To explore the clinical characteristics of pediatric pelvic fracturs caused by traffic accidents and to analyze the accompanying injuries and complications.Methods::A total of 222 cases involved traffic accidents was enrolled in this case-control study. The data of children with pelvic fractures caused by traffic accidents who were admitted to our hospital from January 2006 to December 2021 were analyzed retrospectively. Sex, age, Tile classification, abbreviated injury scale score, injury severity score, mortality, and accompanying injuries were studied. The ANOVA was used for measurement data, and the non-parametric rank sum test was used for non-normally distributed data. The Fisher's exact probability method was used for the count data.Results::Of all enrolled cases, 140 are boys and 82 are girls, including 144 cases aged < 6 years, 65 aged between 6 and 12 years, and 13 aged > 12 years. Depending on the injury mechanism, there are 15 cases involving pedestrians vs. motorcycles (PVM), 91 cases involving pedestrians vs. passenger cars (PVC), 78 cases involving pedestrians vs. commercial vehicles (PVV), and 38 cases involving motor vehicles vs. motor vehicles (MVM). Associated injuries are reported in 198 cases (89.2%), primarily involving the abdomen injury in 144 cases (64.9%), and lower limb injury in 99 cases (44.6%). PVV injury involves longer hospital stay ( p =0.004). Intensive care unit admission rate is significantly higher in the MVM group than in other groups ( p =0.004). Head injury ( p =0.001) and face injury ( p =0.037) are more common in the MVM group, whereas abdominal injury ( p =0.048) and lower limb injury ( p =0.037) are more common in the PVV group. In the MVM group, the brain injury ( p =0.004) and femoral neck injury ( p =0.044) are more common. In the PVM group, the mediastinum ( p =0.004), ear ( p =0.009), lumbar vertebrae ( p =0.008), and spinal cord ( p =0.011) are the most vulnerable regions, while in the PVV group, the perineum ( p < 0.001), urethra ( p =0.001), rectum ( p =0.006), anus ( p =0.004), and lower limb soft tissues ( p =0.024) are the most vulnerable regions. Children aged > 12 years have higher pelvic abbreviated injury scale scores ( p =0.019). There are significant differences in the classification of pelvic fractures among children < 6, 6 -12, and > 12 years of age, with Tile C being more likely to occur in children > 12 years of age ( p =0.033). Children aged > 12 years are more likely to sustain injuries to the spleen ( p =0.022), kidneys ( p =0.019), pancreas ( p < 0.001), lumbar vertebrae ( p =0.013), and sacrum ( p =0.024). The MVM group has the highest complication rate ( p =0.003). Conclusion::PVC is the leading cause of the abdomen and lower extremities injury and has the most concomitant injuries. Different traffic injuries often lead to different associated injuries. Older children are more likely to sustain more severe pelvic fractures and peripelvic organs injuries. The MVM group has the highest extent of injury and complication rates.

Objective:To explore the optimization of the standardized assessment tool for clinical diagnosis of Chinese developmental dyslexia (DD).Methods:A cross-sectional study was conducted from May to December 2023, in which 130 primary school children in grades 1 to 3 with clinical signs of literacy lag and positive screening results on the screening scales were recruited from the outpatient clinic of Child Health Care Medical Division, Shanghai Children′s Hospital, Shanghai Jiao Tong University School of Medicine. Chinese dyslexia screening behavior checklist for primary students (CDSBC) was used as the screening scales, and supplemented by dyslexia checklist for Chinese children. Referring to the standard procedure of the"expert advice on diagnosis and intervention of Chinese developmental dyslexia", the developmental dyslexia scale for standard mandarin (DDSSM) was used to evaluate the children′s literacy-related cognitive abilities and conduct the diagnostic assessment, and divided the children into learning backward group and the DD group. The t-test and χ2 test were used to compare the differences in the distribution of intelligence, literacy and attention deficit hyperactivity disorder between the two groups. Spearman′s correlation was used to analyze the correlation between the scores for each cognitive ability in the DDSSM and the CDSBC. Results:Of the 130 children, 90 were male, aged (8.3±1.0) years; 40 were female, aged (8.1±0.9) years. A final diagnosis of DD was made in 59 cases, of which 41 were males. There was no statistically significant difference in operational intelligence quotient (101±15 vs.100±15, t=0.53, P>0.05) and statistically significant difference in literacy of DDSSM (32±5 vs.21±4, t=11.56, P<0.001) between the learning backward group and the DD group. Eighteen cases (25.4%) of the learning backward group were children with attention deficit subtype attention deficit hyperactivity disorder (ADHD-I), and 16 cases (27.1%) in DD group, the difference in incidence between the two groups was not statistically significant ( χ2=0.05, P>0.05). There were correlations between the DDSSM (for oral vocabulary, morphological awareness and orthographic awareness) and the CDSBC total score ( r=-0.42, -0.32, -0.35, all P<0.01), but the correlations for visuospatial perception and rapid automatized naming with CDSBC total score were not statistically significant ( r=-0.09 and -0.20,both P>0.05). Conclusion:For literacy-related cognitive abilities, screening scales CDSBC are not sufficiently useful for assessment, so the introduction of standardized assessment tools DDSSM is an optimization of the clinical diagnosis of Chinese DD, which is crucial for achieving accurate diagnosis and intervention.