OBJECTIVE: To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion. METHODS: A fetus undergone induced abortion due to intrauterine growth restriction and death during second trimester at the the Seventh Affiliated Hospital of Sun Yat-Sen University in 2024 was selected as the study subject. Clinical data of the pregnancy were collected. DNA was extracted from tissues from the aborted fetus and peripheral blood samples from its parents. Chromosomal microarray analysis and whole exome sequencing were carried out. Candidate variants were verified by Sanger sequencing. Following abortion, routine autopsy and pathological analysis were conducted. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: KY-2025-334-01). RESULTS: The aborted fetus was a male and harbored compound heterozygous nonsense variants of the TH gene (c.457C>T/p.Arg153* and c.694C>T/p.Gln232*), for which both parents were heterozygous carriers. Autopsy and pathological analysis revealed that the fetus had pathological features including loose arrangement of myocardial fibers and congestion in the liver. CONCLUSION Biallelic null variants of the TH gene may cause heart failure by affecting the development of cardiovascular system, which in turn may lead to intrauterine death. This study has provided new clues for the molecular diagnosis of stillbirth and recurrent pregnancy loss.
Humans ; Female ; Pregnancy ; Male ; Heterozygote ; Codon, Nonsense/genetics* ; Fetal Growth Retardation/pathology* ; Adult ; Stillbirth/genetics*

Objective:To construct a mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases based on the Liverpool mindfulness model, providing practical guidance for improving their physical and mental symptoms.Methods:The system searched for relevant literature on the application of mindfulness intervention in patients with malignant hematological diseases retrieved from Cochrane Library, PubMed, CINAHL, PsycInfo, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure. The search period was from January 1, 1982 to December 26, 2023. Using the Liverpool mindfulness model as the theoretical framework, based on the literature review, group meetings and semi-structured interviews, a preliminary draft of a mindfulness cancer rehabilitation training program for patients with malignant hematologic diseases was developed. After 2 rounds of Delphi expert consultation, the final version of the intervention plan was determined.Results:Among the 19 experts, there were 4 males and 15 females, aged 30-61 (47.11 ± 7.64) years old. The effective recovery rates of the two rounds of expert inquiry questionnaires were both 19/19, and the expert authority coefficients were both 0.88. The Kendall coordination coefficients for the two rounds of inquiry were 0.214 and 0.220, respectively ( χ2=77.37, 108.66, both P<0.01).A mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases was ultimately developed, including intervention subjects, intervention personnel, intervention sites and forms, intervention timing, intervention intensity, intervention process and training theme content. Conclusions:The mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases constructed based on the Liverpool mindfulness model is necessary, scientific, and clinically suitable, and can provide a basis for clinical psychological nursing practice for patients with malignant hematologic diseases.

Objective:To explore the effect of persuasion system-based health intervention in orthodontic patients treated with clear aligners.Methods:From January 2022 to December 2023, convenience sampling was used to select patients treated with clear aligners at the Department of Orthodontics in Affiliated Stomatological Hospital of Nanjing Medical University as participants. Patients admitted from January to December 2022 were included in the control group ( n=60), and those admitted from January to December 2023 were included in the observation group ( n=59). The control group received health guidance based on the theory of knowledge, attitude, and practice. Based on the control group, the observation group added health intervention with the assistance of a persuasion system. After one year of intervention, the oral care self-efficacy, enamel demineralization, periodontal health index (gingival index, plaque index, sulcus bleeding index, probing depth), and restart rate of both groups were evaluated. Results:After the intervention, the scores of the Self-efficacy Scale for Self-care in the observation group were higher than those in the control group, and the difference was statistically significant [ (71.03±1.97) vs. (57.82±2.58), P<0.01]. The enamel demineralization rate, periodontal health index (plaque index, gingival index, sulcus bleeding index, probing depth) score, and restart rate in observation group were all lower than those in control group ( P<0.05) . Conclusions:Persuasion system system-based health intervention can improve the oral care self-efficacy of orthodontic patients treated with clear aligners, alleviate oral health issues during clear aligners, and reduce the restart rate of clear aligner patients.

Objective:To construct a mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases based on the Liverpool mindfulness model, providing practical guidance for improving their physical and mental symptoms.Methods:The system searched for relevant literature on the application of mindfulness intervention in patients with malignant hematological diseases retrieved from Cochrane Library, PubMed, CINAHL, PsycInfo, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure. The search period was from January 1, 1982 to December 26, 2023. Using the Liverpool mindfulness model as the theoretical framework, based on the literature review, group meetings and semi-structured interviews, a preliminary draft of a mindfulness cancer rehabilitation training program for patients with malignant hematologic diseases was developed. After 2 rounds of Delphi expert consultation, the final version of the intervention plan was determined.Results:Among the 19 experts, there were 4 males and 15 females, aged 30-61 (47.11 ± 7.64) years old. The effective recovery rates of the two rounds of expert inquiry questionnaires were both 19/19, and the expert authority coefficients were both 0.88. The Kendall coordination coefficients for the two rounds of inquiry were 0.214 and 0.220, respectively ( χ2=77.37, 108.66, both P<0.01).A mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases was ultimately developed, including intervention subjects, intervention personnel, intervention sites and forms, intervention timing, intervention intensity, intervention process and training theme content. Conclusions:The mindfulness based cancer rehabilitation training program for patients with malignant hematologic diseases constructed based on the Liverpool mindfulness model is necessary, scientific, and clinically suitable, and can provide a basis for clinical psychological nursing practice for patients with malignant hematologic diseases.

Objective:To explore the effect of persuasion system-based health intervention in orthodontic patients treated with clear aligners.Methods:From January 2022 to December 2023, convenience sampling was used to select patients treated with clear aligners at the Department of Orthodontics in Affiliated Stomatological Hospital of Nanjing Medical University as participants. Patients admitted from January to December 2022 were included in the control group ( n=60), and those admitted from January to December 2023 were included in the observation group ( n=59). The control group received health guidance based on the theory of knowledge, attitude, and practice. Based on the control group, the observation group added health intervention with the assistance of a persuasion system. After one year of intervention, the oral care self-efficacy, enamel demineralization, periodontal health index (gingival index, plaque index, sulcus bleeding index, probing depth), and restart rate of both groups were evaluated. Results:After the intervention, the scores of the Self-efficacy Scale for Self-care in the observation group were higher than those in the control group, and the difference was statistically significant [ (71.03±1.97) vs. (57.82±2.58), P<0.01]. The enamel demineralization rate, periodontal health index (plaque index, gingival index, sulcus bleeding index, probing depth) score, and restart rate in observation group were all lower than those in control group ( P<0.05) . Conclusions:Persuasion system system-based health intervention can improve the oral care self-efficacy of orthodontic patients treated with clear aligners, alleviate oral health issues during clear aligners, and reduce the restart rate of clear aligner patients.

Objective:To investigate the effect of long non-coding RNA (lncRNA) H19 regulating miRNA-675 (miR-675) and phosphatase and tensin homologue-deleted chromosome ten gene (PTEN) on the cell proliferation of glioma.Methods:Glioma cell lines U87-MG and U251 were chosen. The siRNA online design tool wad used to design small interfering RNA (siRNA) targeting H19. U87-MG and U251 cell lines with the stable knockdown of H19 were constructed (the stable knockdown of H19 group), and the cells randomly transfected with siRNA plasmid were taken as the control group, and normal cultured cells were treated as the blank group. Additionally, miR-675 and control microRNA were transfected into U87-MG and U251 with the stable knockdown of H19 (the overexpressing miR-675 group and the corresponding control group). Quantitative real-time polymerase chain reaction (qRT-PCR) was used to detect the relative expression levels of miR-675 and H19 in each group; the methyl thiazolyl tetrazolium (MTT) assay was used to detect the cell proliferation ability; the dual luciferase reporter gene assay was used to verify the targeting relationship between miR-675 and PTEN; Western blot was used to detect the relative expression level of PTEN protein.Results:The MTT assay results showed that the proliferation ability of U87-MG and U251 cells in the stable knockdown of H19 group was lower than that of the corresponding control group; and the differences in cell proliferation ability of all the groups after 48 h of culture were statistically significant (all P < 0.05). qRT-PCR detection results showed that the relative expression level of miR-675 in U251 cells in the stable knockdown of H19 group and the corresponding control group was 0.329±0.009 and 1.043±0.087, respectively, and the difference was statistically significant ( t = 14.15, P < 0.001); the relative expression level of miR-675 in U87-MG cells in the stable knockdown of H19 group and the corresponding control group was 0.299±0.009 and 1.027±0.106, respectively, and the difference was statistically significant ( t = 11.85, P < 0.001); the relative expression level of miR-675 in U87-MG and U251 cells in the stable knockdown of H19 group was lower than that of the corresponding control group. The dual luciferase reporter gene assay verified that miR-675 could bind to the 3'-UTR of PTEN. Western blot detection results showed that the relative expression level of PTEN protein in U87-MG and U251 cells in the stable knockdown of H19 group was higher than that of the corresponding control group and the blank group; in the U87-MG and U251 cells in the stable knockdown of H19 group, the relative expression level of PTEN in the overexpressing miR-675 group was lower than that of the corresponding blank group and the control group. In the U87-MG and U251 cells in the stable knockdown of H19 group, the cell proliferation ability of the overexpressing miR-675 group was higher than that of the corresponding blank group and the control group; the differences in cell proliferation ability of all the groups after 48 h of culture were statistically significant (all P < 0.05). Conclusions:lncRNA H19 may regulate the cell proliferation of glioma cells through the miR-675-PTEN signaling pathway.

Objective To retrieve,evaluate and summarise the best evidences for early exercise rehabilitation in patients with acute heart failure,hence to provide references for clinically early exercise rehabilitation.Methods Websites of BMJ best clinical practice,the International Guidelines Collaborative Network(GIN),the UK National Institute of Clinical Medicine Guidance Library(NICE),the Ontario Registered Nurses Association(RNAO),the Australian JBI evidence-based health care centre database(JBI),Cochrane Library,PubMed,Web of Science,CINAHL,Medlive,CBM,CNKI,Wanfang Data and VIP published between April 1st,2018 and April 13th,2023 were searched to collect literatures that were relevant to clinical practice,guidelines,expert consensus,evidence summary,systematic evaluation and meta-analysis in early exercise rehabilitation in patients with acute heart failure.Two trained researchers independently evaluated the included literatures,and then extracted and summarised the evidences that met the inclusion criteria.Results A total of 16 articles were retrieved,including 2 articles in clinical decisions,6 guidelines,3 expert consensus,2 evidence summaries,1 recommended practice and 2 systematic reviews.Twenty pieces of the best evidence across 9 dimensions were summarised,including indications of exercise rehabilitation,timing for exercise rehabilitation intervention,flexibility movement,low intensity resistance exercise and inspiratory muscle training.Conclusions The summarised best evidence for early exercise rehabilitation in patients with acute heart failure can provide the healthcare professionals with evidence-based references in clinical practice.Healthcare professionals are encouraged to apply the evidence to propose the plans for individualised early exercise rehabilitation,after fully consideration of the physical condition and willingness of the patients.

Objective:To conduct a scoping review of the application of mindfulness intervention in patients with hematological malignancies, and to provide a basis for forming a standardized clinical pathway for mindfulness intervention in patients with hematological malignancies.Methods:Following the scoping review framework of Arksey and O′Malley, domestic and foreign databases for relevant studies on the application of mindfulness intervention in patients with hematological malignancies were systematically searched. The search period was from January 1982 to December 2023, and the included literature was screened, analyzed, and summarized.Results:A total of 17 literatures were included. The implementers of the intervention had certain professionalism, mostly nurses; the intervention types were mainly mindfulness-based stress reduction therapy and single mindfulness exercises; the main indicators of the effectiveness of mindfulness intervention in patients with hematological malignancies were psychological Indicators, physiological indicators, subjective experience and overall evaluation.Conclusions:Mindfulness intervention has shown positive effects in improving anxiety, depression, and quality of life in patients with malignant hematological tumors. In the future, it is necessary to flexibly refine the implementation content of the intervention plan and strengthen mindfulness training for relevant nursing staff, laying a foundation for the promotion and application in clinical nursing practice of patients with hematologic malignancies.

Objective:To conduct a scoping review of the application of mindfulness intervention in patients with hematological malignancies, and to provide a basis for forming a standardized clinical pathway for mindfulness intervention in patients with hematological malignancies.Methods:Following the scoping review framework of Arksey and O′Malley, domestic and foreign databases for relevant studies on the application of mindfulness intervention in patients with hematological malignancies were systematically searched. The search period was from January 1982 to December 2023, and the included literature was screened, analyzed, and summarized.Results:A total of 17 literatures were included. The implementers of the intervention had certain professionalism, mostly nurses; the intervention types were mainly mindfulness-based stress reduction therapy and single mindfulness exercises; the main indicators of the effectiveness of mindfulness intervention in patients with hematological malignancies were psychological Indicators, physiological indicators, subjective experience and overall evaluation.Conclusions:Mindfulness intervention has shown positive effects in improving anxiety, depression, and quality of life in patients with malignant hematological tumors. In the future, it is necessary to flexibly refine the implementation content of the intervention plan and strengthen mindfulness training for relevant nursing staff, laying a foundation for the promotion and application in clinical nursing practice of patients with hematologic malignancies.

Objective To analyze the influencing factors of unstable ventilation pressure during nasal continuous positive airway pressure(NCPAP)treatment in neonates with hyaline membrane dis-ease(HMD)and construct a nomogram model.Methods A retrospective analysis was conducted in 157 HMD neonates who underwent NCPAP treatment.The patients were divided into unstable group(n=49)and stable group(n=108)based on the occurrence of unstable ventilation pressure during treatment.Logistic regression analysis was used to identify influencing factors of unstable ventilation pressure during NCPAP treatment in HMD neonates.A nomogram model was constructed using R software,and its predictive performance was evaluated using receiver operating characteristic(ROC)curves,calibration curves,and the Hosmer-Lemeshow goodness-of-fit test.Results Unstable venti-lation pressure occurred in 49 HMD neonates during NCPAP treatment,with an incidence rate of 31.21％(49/157).Univariate analysis showed that unstable ventilation pressure during NCPAP treatment had no relation to gestational age,gender,birth weight,delivery mode,neonatal Apgar score,catheter distortion,or excessive condensation in the tube(P＞0.05).However,NCPAP treatment duration,nasal mucosa damage,secretion blockage in the airway,and restlessness were identified as influencing factors for unstable ventilation pressure during NCPAP treatment in HMD neonates(P＜0.05).Multivariate Logistic regression analysis revealed that NCPAP treatment duration ≥72 h,nasal mucosa damage,secretion blockage in the airway,and restlessness were independent risk fac-tors for unstable ventilation pressure during NCPAP treatment in HMD neonates(P＜0.05).A no-mogram model was constructed based on these four independent risk factors.The ROC curve demon-strated good discrimination for the nomogram model,with an area under the curve of 0.801(95％CI,0.730 to 0.861).The Hosmer-Lemeshow goodness-of-fit test showed a chi-square value of 3.550 with a P-value of 0.470,and the calibration curve had a slope close to 1,indicating good fit validity for the nomogram prediction model.Conclusion The nomogram model constructed based on NC-PAP treatment duration,nasal mucosa damage,secretion blockage in the airway,and restlessness has good predictive value for the occurrence of unstable ventilation pressure during NCPAP treatment in HMD neonates.