BACKGROUND:Allogeneic hematopoietic stem cell transplantation is an important treatment for malignant hematological diseases,and delayed postoperative platelet implantation is a common complication that seriously affects the quality of patient survival;however,there are no standard protocols to improve platelet implantation rates and prevent platelet implantation delays. OBJECTIVE:To compare the safety and efficacy of oral Herombopag Olamine versus subcutaneous recombinant human thrombopoietin for promoting platelet implantation in patients with malignant hematological diseases undergoing haploid hematopoietic stem cell transplantation. METHODS:Clinical data of 163 patients with malignant hematological diseases who underwent haploidentical hematopoietic stem cell transplantation from January 2016 to October 2022 were retrospectively analyzed.A total of 72 patients who started to subcutaneously inject recombinant human thrombopoietin at+2 days were categorized into the recombinant human thrombopoietin group;a total of 27 patients who started to orally take Herombopag Olamine at+2 days were categorized into the Herombopag Olamine group;and 64 patients who did not apply Herombopag Olamine or recombinant human thrombopoietin were categorized into the blank control group.The implantation status,incidence of acute graft-versus-host disease of degree II-IV within 100 days,1-year survival rate,1-year recurrence rate,and safety were analyzed in the three groups. RESULTS AND CONCLUSION:(1)The average follow-up time was 52(12-87)months.The implantation time of neutrophils in the blank control group,recombinant human thrombopoietin group,and Herombopag Olamine group was(12.95±3.88)days,(14.04±3.71)days,and(13.89±2.74)days,respectively,with no statistically significant difference(P=0.352);the implantation time of platelets was(15.16±6.27)days,(17.67±6.52)days,and(17.00±4.75)days,with no statistically significant difference(P=0.287).(2)The complete platelet implantation rate on day 60 was 64.06%,90.28%,and 92.59%,respectively,and the difference was statistically significant(P<0.001).The subgroup analysis showed that the difference between the blank control group and the recombinant human thrombopoietin group was statistically significant(P<0.001),and the difference between the blank control group and the Herombopag Olamine group was statistically significant(P=0.004).The difference was not statistically significant between the recombinant human thrombopoietin group and Herombopag Olamine group(P=0.535).(3)100-day II-IV degree acute graft-versus-host disease incidence in the blank control group,recombinant human thrombopoietin group,and Herombopag Olamine group were 25.00%,30.56%,and 25.93%,respectively,and the difference was not statistically significant(P=0.752).(4)The incidence of cytomegalovirus anemia,cytomegalovirus pneumonia,and hepatic function injury had no statistical difference among the three groups(P>0.05).(5)During the follow-up period,there was no thrombotic event in any of the three groups of patients.(6)The results showed that recombinant human thrombopoietin and Herombopag Olamine could improve the platelet implantation rate of malignant hematological disease patients after haploidentical hematopoietic stem cell transplantation,with comparable efficacy and good safety.

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband. METHODS: Chinese pedigree which opted elective abortion at the Women and Children's Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). RESULTS: Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c.7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c.1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. CONCLUSION This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Antigens, Neoplasm/genetics* ; Cell Cycle Proteins/genetics* ; Cerebellum/abnormalities* ; Cytoskeletal Proteins/genetics* ; Eye Abnormalities/genetics* ; Introns/genetics* ; Kidney Diseases, Cystic/diagnosis* ; Pedigree ; Retina/abnormalities* ; Sequence Analysis, RNA/methods* ; Whole Genome Sequencing/methods* ; Child

Objective:To explore the effectiveness of family-based interventions for adolescent suicide pre-vention using meta-analytic methods.Methods:A meta-analysis was conducted by searching CNKI,VIP,Wanfang,Web of Science,PubMed,APA PsycInfo and The Cochrane Library for randomized controlled trials of family-based interventions for adolescent suicide prevention.Results:A total of 15 RCTs involving 2541 cases were conclu-ded.The results of meta-analysis showed that family-based therapy was effective in preventing adolescent suicide(95％CI:-0.76--0.09,P＜0.05),with a medium effect size for the intervention(g=-0.42),in which there was a significant effect on reducing suicidal ideation(SMD=-0.77,95％CI:-1.31--0.23,P＜0.05),and the effect on reducing suicide attempts was not significant(OR=0.87,95％CI:0.68-1.11,P＞0.05).Family-based therapies were most effective in adolescent suicide prevention when the duration of the intervention was 12 weeks or more,when they were based on attachment-based family therapy(ABFT)or resource support and safety plans,and when they had a reasonably high dropout rate(Ps＜0.05).Conclusion:Family-based therapy has significant inter-vention effects on adolescent suicide prevention,and intervention effects on suicidal ideation are superior to those on suicide attempts.

OBJECTIVE To explore the clinical characteristics of Tropheryma whipplei(TW)infection and observe the application of pathogenic metagenomic next-generation sequencing(mNGS)in diagnosis of TW infection.METHODS The clinical data were collected from 1 patient who was diagnosed by mNGS in the Affiliated Hospital of Jining Medical University on Apr.9,2022.The data including the results of laboratory tests and treatment out-comes were summarized,and a literature review was conducted.RESULTS A 50-year-old woman presented to the hospital with chest tightness and chest pain lasting for 3 days,accompanied by dyspnea,palpitations,and expec-toration.The chest plain CT scan and magnetic resonance imaging(MRI)scan suggested a high probability of pul-monary infection.Normal flora were isolated by culture of bronchoalveolar lavage fluid(BALF);TW and human βherpes virus type 7 were detected in BALF by mNGS,with the sequence numbers 327 000 and 9,respectively.The pulmonary symptoms of the patient were improved after joint treatment of the infection with etimicin,levo-floxacin and minocycline.The patient repeatedly sought for medical treatment due to the pain of shoulder joint and limitation of motion.CONCLUSIONS TW is one of major pathogens leading to the infections of systemic multiple systems,and it is necessary to attach great importance to the diagnosis and treatment.The traditional laboratory test method can not achieve ideal diagnosis effect and is more likely to make a missed diagnosis.mNGS is more ac-curate and more efficient than the traditional detection method in diagnosis of TW-induced diseases.Early use of mNGS can make a rapid identification of pathogens and facilitate the reasonable clinical use of antibiotics.It is of great significance for control of the disease progression,improvement of prognosis and prevention of recurrence.

Objective:To explore the effectiveness of family-based interventions for adolescent suicide pre-vention using meta-analytic methods.Methods:A meta-analysis was conducted by searching CNKI,VIP,Wanfang,Web of Science,PubMed,APA PsycInfo and The Cochrane Library for randomized controlled trials of family-based interventions for adolescent suicide prevention.Results:A total of 15 RCTs involving 2541 cases were conclu-ded.The results of meta-analysis showed that family-based therapy was effective in preventing adolescent suicide(95％CI:-0.76--0.09,P＜0.05),with a medium effect size for the intervention(g=-0.42),in which there was a significant effect on reducing suicidal ideation(SMD=-0.77,95％CI:-1.31--0.23,P＜0.05),and the effect on reducing suicide attempts was not significant(OR=0.87,95％CI:0.68-1.11,P＞0.05).Family-based therapies were most effective in adolescent suicide prevention when the duration of the intervention was 12 weeks or more,when they were based on attachment-based family therapy(ABFT)or resource support and safety plans,and when they had a reasonably high dropout rate(Ps＜0.05).Conclusion:Family-based therapy has significant inter-vention effects on adolescent suicide prevention,and intervention effects on suicidal ideation are superior to those on suicide attempts.

Pulse wave analysis plays an important role in the theoretical and clinical studies of both the traditional Chinese medicine and the modern western medicine.In recent years,some researchers raised the opinion of resonance between the harmonics of the pulse wave and the viscera,and applied it to explain the mechanism and the clinical application of the pulse waves,which had a great impact on the related research in the traditional Chinese medicine especially about the pulse diagnosis.To evaluate the feasibility of this opinion,this study summarized the theoretical model and the main arguments of the harmonics-viscera resonance opinion,analyzed the opinion from the aspects of Zang-xiang theory and meridian theory in the traditional Chinese medicine,the anatomy in Western medicine,observations in biology,the resonance phenomenon in physics,and the blood flow study in hemodynamics.Some technical thoughts in the harmonics-viscera resonance opinion that need to be further improved and refined were also identified for further exploration.

OBJECTIVE To explore the clinical characteristics of Tropheryma whipplei(TW)infection and observe the application of pathogenic metagenomic next-generation sequencing(mNGS)in diagnosis of TW infection.METHODS The clinical data were collected from 1 patient who was diagnosed by mNGS in the Affiliated Hospital of Jining Medical University on Apr.9,2022.The data including the results of laboratory tests and treatment out-comes were summarized,and a literature review was conducted.RESULTS A 50-year-old woman presented to the hospital with chest tightness and chest pain lasting for 3 days,accompanied by dyspnea,palpitations,and expec-toration.The chest plain CT scan and magnetic resonance imaging(MRI)scan suggested a high probability of pul-monary infection.Normal flora were isolated by culture of bronchoalveolar lavage fluid(BALF);TW and human βherpes virus type 7 were detected in BALF by mNGS,with the sequence numbers 327 000 and 9,respectively.The pulmonary symptoms of the patient were improved after joint treatment of the infection with etimicin,levo-floxacin and minocycline.The patient repeatedly sought for medical treatment due to the pain of shoulder joint and limitation of motion.CONCLUSIONS TW is one of major pathogens leading to the infections of systemic multiple systems,and it is necessary to attach great importance to the diagnosis and treatment.The traditional laboratory test method can not achieve ideal diagnosis effect and is more likely to make a missed diagnosis.mNGS is more ac-curate and more efficient than the traditional detection method in diagnosis of TW-induced diseases.Early use of mNGS can make a rapid identification of pathogens and facilitate the reasonable clinical use of antibiotics.It is of great significance for control of the disease progression,improvement of prognosis and prevention of recurrence.

Objective:To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband.Methods:A Chinese pedigree which opted elective abortion at the Women and Children′s Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). Results:Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c. 7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c. 1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. Conclusion:This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.

Pulse wave analysis plays an important role in the theoretical and clinical studies of both the traditional Chinese medicine and the modern western medicine.In recent years,some researchers raised the opinion of resonance between the harmonics of the pulse wave and the viscera,and applied it to explain the mechanism and the clinical application of the pulse waves,which had a great impact on the related research in the traditional Chinese medicine especially about the pulse diagnosis.To evaluate the feasibility of this opinion,this study summarized the theoretical model and the main arguments of the harmonics-viscera resonance opinion,analyzed the opinion from the aspects of Zang-xiang theory and meridian theory in the traditional Chinese medicine,the anatomy in Western medicine,observations in biology,the resonance phenomenon in physics,and the blood flow study in hemodynamics.Some technical thoughts in the harmonics-viscera resonance opinion that need to be further improved and refined were also identified for further exploration.

Objective:To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband.Methods:A Chinese pedigree which opted elective abortion at the Women and Children′s Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). Results:Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c. 7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c. 1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. Conclusion:This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.