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.

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 analyze the prenatal ultrasonographic features and prognosis of fetal perirenal urinoma.Methods:This retrospective study included eight fetuses with perirenal urinoma diagnosed by prenatal ultrasound in the Women and Children's Hospital of Chongqing Medical University from January 2017 to August 2023. Descriptive analysis was performed on their prenatal ultrasonographic features, intrauterine intervention measures, postnatal treatment, and prognosis.Results:Among the eight cases, the prenatal ultrasonographic diagnosis was consistent with the postnatal clinical diagnosis in seven cases, with one misdiagnosis (postnatally confirmed as giant renal cyst with multicystic dysplastic kidney). Prenatal ultrasonographic features of fetal perirenal urinoma included cystic mass adjacent to the renal capsule; obvious compression of the surrounding organs and the affected kidney; increased craniocaudal diameter of the affected kidney with thin parenchyma, increased echogenicity, indistinct corticomedullary differentiation, and pyeletasis; poorly visualized partial renal arteries; normal or mildly enlarged contralateral kidney; adequate bladder filling; normal amniotic fluid volume. Two cases underwent intrauterine cyst aspiration with subsequent cyst size reduction (slight re-enlargement during follow-up). Among the remaining six untreated cases, one case showed stable cyst size, while five cases exhibited initial significant cyst enlargement followed by stabilization or regression trend. All eight cases were born at full term (three delivered vaginally and five by cesarean section). The affected kidney was significantly atrophied within one week after birth by ultrasound observation. Impaired function of the affected kidney was shown in four patients by follow-up after discharge (including two cases of intrauterine treatment),one case abandoned treatment due to other illnesses, two cases were lost to follow-up after discharge.Conclusions:Prenatal ultrasound images of perirenal urinary cysts infetuses exhibit typical features. Intrauterine treatment can reduce the compression of large cysts and hydronephrosis on fetal organs, but there is no significant improvement in the recovery of renal function.

Purpose To investigate the prenatal ultrasound features and prognosis of fetal patent urachal.Materials and Methods The prenatal ultrasound characteristics of six cases with patent urachal diagnosed in Women and Children's Hospital of Chongqing Medical University from September 2018 to March 2023 were retrospectively analyzed,their pregnancy and postnatal conditions were followed up.Results In the first and second trimester of pregnancy,the prenatal ultrasonography of six fetuses showed that the epurachus was occluded.Among them,two cases were diagnosed as bladder diverticulum.The ultrasonography showed that the bladder was malformed,the top of the bladder was changed like a beak,and was connected to the umbilical cord entrance of the abdominal wall through an abnormal tube.Four cases were diagnosed as urachal fistula with allantoic cyst.Ultrasound showed that the cyst was at the root of the umbilical cord,and the cyst communicated with the bladder through an abnormal duct.The size of the cyst changed with the filling and emptying of the bladder.Color Doppler showed that the cysts were surrounded by the umbilical artery.None of the six fetuses were abnormal by chromosome examination.Among them,two fetuses with simple urachal fistula and allantoic cyst were born with good prognosis,and the remaining four fetuses were induced by other malformations.One of the six fetuses was female,and five fetuses were male.Conclusion Prenatal ultrasound of patent urachus has typical features and low correlation with chromosomal abnormalities.It is more common in males clinically and has a good prognosis without other structural abnormalities.

Purpose To investigate the prenatal ultrasound features and prognosis of fetal patent urachal.Materials and Methods The prenatal ultrasound characteristics of six cases with patent urachal diagnosed in Women and Children's Hospital of Chongqing Medical University from September 2018 to March 2023 were retrospectively analyzed,their pregnancy and postnatal conditions were followed up.Results In the first and second trimester of pregnancy,the prenatal ultrasonography of six fetuses showed that the epurachus was occluded.Among them,two cases were diagnosed as bladder diverticulum.The ultrasonography showed that the bladder was malformed,the top of the bladder was changed like a beak,and was connected to the umbilical cord entrance of the abdominal wall through an abnormal tube.Four cases were diagnosed as urachal fistula with allantoic cyst.Ultrasound showed that the cyst was at the root of the umbilical cord,and the cyst communicated with the bladder through an abnormal duct.The size of the cyst changed with the filling and emptying of the bladder.Color Doppler showed that the cysts were surrounded by the umbilical artery.None of the six fetuses were abnormal by chromosome examination.Among them,two fetuses with simple urachal fistula and allantoic cyst were born with good prognosis,and the remaining four fetuses were induced by other malformations.One of the six fetuses was female,and five fetuses were male.Conclusion Prenatal ultrasound of patent urachus has typical features and low correlation with chromosomal abnormalities.It is more common in males clinically and has a good prognosis without other structural abnormalities.

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.

Objective:To analyze the prenatal ultrasonographic features and prognosis of fetal perirenal urinoma.Methods:This retrospective study included eight fetuses with perirenal urinoma diagnosed by prenatal ultrasound in the Women and Children's Hospital of Chongqing Medical University from January 2017 to August 2023. Descriptive analysis was performed on their prenatal ultrasonographic features, intrauterine intervention measures, postnatal treatment, and prognosis.Results:Among the eight cases, the prenatal ultrasonographic diagnosis was consistent with the postnatal clinical diagnosis in seven cases, with one misdiagnosis (postnatally confirmed as giant renal cyst with multicystic dysplastic kidney). Prenatal ultrasonographic features of fetal perirenal urinoma included cystic mass adjacent to the renal capsule; obvious compression of the surrounding organs and the affected kidney; increased craniocaudal diameter of the affected kidney with thin parenchyma, increased echogenicity, indistinct corticomedullary differentiation, and pyeletasis; poorly visualized partial renal arteries; normal or mildly enlarged contralateral kidney; adequate bladder filling; normal amniotic fluid volume. Two cases underwent intrauterine cyst aspiration with subsequent cyst size reduction (slight re-enlargement during follow-up). Among the remaining six untreated cases, one case showed stable cyst size, while five cases exhibited initial significant cyst enlargement followed by stabilization or regression trend. All eight cases were born at full term (three delivered vaginally and five by cesarean section). The affected kidney was significantly atrophied within one week after birth by ultrasound observation. Impaired function of the affected kidney was shown in four patients by follow-up after discharge (including two cases of intrauterine treatment),one case abandoned treatment due to other illnesses, two cases were lost to follow-up after discharge.Conclusions:Prenatal ultrasound images of perirenal urinary cysts infetuses exhibit typical features. Intrauterine treatment can reduce the compression of large cysts and hydronephrosis on fetal organs, but there is no significant improvement in the recovery of renal function.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

Purpose/Significance To construct the conceptual model of hospital intelligence index,so as to lay the foundation for the quantitative evaluation of hospital intelligence degree,and help the intelligent construction of hospital.Method/Process The paper intro-duces the connotation of intelligence,expounds the evaluation standard system of hospital informatization construction,and considers the application of intelligence in hospital from the perspective of structure-function-effect.Result/Conclusion The conceptual model of hospital intelligence index is built.That conceptual model includes 3 first-level indicators,8 second-level indicators and 33 third-level indicators of intelligence basis,intelligence capacity and intelligence effect.As a tool for continuous improvement of medical serv-ices,regular assessment of hospital intelligence level can promote the improvement of medical quality and patient experience,and help the high-quality development of hospitals.