This study presents a case of a male carrier with a cryptic complex chromosomalrearrangement (CCR) incidentally identified by next-generation sequencing (NGS)-based preimplantation genetic testing (PGT), along with a literature review. The couple underwent PGT because of the male partner's known balanced translocation karyotype [46,XY,t(8;14)(p21;q13)]. Embryonic copy number variation (CNV) analysis unexpectedly revealed two distinct breakpoints on chromosome 8 in the male partner, suggesting additional structural abnormalities beyond the documented translocation. Modified high-resolution G-banding analysis of peripheral blood lymphocytes confirmed these findings. The male partner's high-resolution karyotype was ultimately characterized as 46,XY,der(8)inv(8)(p22q12.2)t(8;14)(p22;q21.3),der(14)t(8;14). The modified high-resolution G-banding technique demonstrated enhanced detection of cryptic CCRs, reducing diagnostic oversight. This case demonstrates that PGT analysis of abnormal embryonic CNV results can uncover previously undetected chromosomal abnormalities, thereby improving genetic counseling and reproductive decision-making.

This study presents a case of a male carrier with a cryptic complex chromosomalrearrangement (CCR) incidentally identified by next-generation sequencing (NGS)-based preimplantation genetic testing (PGT), along with a literature review. The couple underwent PGT because of the male partner's known balanced translocation karyotype [46,XY,t(8;14)(p21;q13)]. Embryonic copy number variation (CNV) analysis unexpectedly revealed two distinct breakpoints on chromosome 8 in the male partner, suggesting additional structural abnormalities beyond the documented translocation. Modified high-resolution G-banding analysis of peripheral blood lymphocytes confirmed these findings. The male partner's high-resolution karyotype was ultimately characterized as 46,XY,der(8)inv(8)(p22q12.2)t(8;14)(p22;q21.3),der(14)t(8;14). The modified high-resolution G-banding technique demonstrated enhanced detection of cryptic CCRs, reducing diagnostic oversight. This case demonstrates that PGT analysis of abnormal embryonic CNV results can uncover previously undetected chromosomal abnormalities, thereby improving genetic counseling and reproductive decision-making.

OBJECTIVE: This study examines utilizes the advantages of machine learning algorithms to discern key determinants in prognosticate postoperative circulatory complications (PCCs) for older patients. METHODS: This secondary analysis of data from a randomized controlled trial involved 1,720 elderly participants in five tertiary hospitals in Beijing, China. Participants aged 60-90 years undergoing major non-cardiac surgery under general anesthesia. The primary outcome metric of the study was the occurrence of PCCs, according to the European Society of Cardiology and the European Society of Anaesthesiology diagnostic criteria. The analysis metrics contained 67 candidate variables, including baseline characteristics, laboratory tests, and scale assessments. RESULTS: Our feature selection process identified key variables that significantly impact patient outcomes, including the duration of ICU stay, surgery, and anesthesia; APACHE-II score; intraoperative average heart rate and blood loss; cumulative opioid use during surgery; patient age; VAS-Move-Median score on the 1st to 3rd day; Charlson comorbidity score; volumes of intraoperative plasma, crystalloid, and colloid fluids; cumulative red blood cell transfusion during surgery; and endotracheal intubation duration. Notably, our Random Forest model demonstrated exceptional performance with an accuracy of 0.9872. CONCLUSION We have developed and validated an algorithm for predicting PCCs in elderly patients by identifying key risk factors.
Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Cardiovascular Diseases/etiology* ; Machine Learning ; Postoperative Complications/etiology* ; Risk Factors ; Randomized Controlled Trials as Topic ; Secondary Data Analysis

Objective To observe the expression levels and related mechanisms of miR-34a and its inflammatory-related factors in broncho-alveolar lavage fluid of patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD).Methods Totally 20 patients with acute exacerbation of COPD were recruited as the study group and 20 patients in stable period of COPD were recruited as control group.Bronchoalveolar lavage fluid was collected,A549 cell was cultured and AECOPD cell model was built for evaluating the effects of over-expression of miR-34a,inhibition of miR-34a,and silencing of HIF-1α in cells.ELISA assay was applied to detect the expression of inflammatory factors IL-6,IL-8,TNF-αand TGF-β in bronchoalveolar lavage fluid and cell supernatant.The expression of miR-34a and HIF-1 αwere measured by RT-qPCR,and Western blot was used to detect the expres-sion of HIF-1α.Results Compared with the control group,the expression of inflammatory factors,miR-34a,and HIF-1α in the AECOPD group were significantly elevated(P＜0.05).Over-expression of miR-34a led to further elevation of HIF-1α and inflammatory factor expression(P＜0.05).Inhibition of miR-34a resulted in a significant decrease of HIF-1α and inflammatory factors(P＜0.05).The expression of HIF-1α in the AECOPD group was significantly elevated(P＜0.05),and silencing HIF-1α significantly reduced the expression of inflam-matory factors(P＜0.05).The expression of miR-34a had no significant change.Conclusions miR-34a is in-volved in the inflammatory damage in patients with acute exacerbation of COPD by regulating HIF-1α.Interfering with the miR-34a/HIF-1α pathway alleviates inflammatory response,so it is a potential target in the treatment of acute exacerbation of COPD.

Intramedullary needle(IMN)has the advantages of high healing rate and low incidence of complications in treatment of tibial fracture,and has become one of the most commonly used fixation methods for the treatment of tibial fracture.However,due to the patient's own factors,fracture location and fracture type,infection and surgical treatment,bone nonunion after IMN still occurs in clinic.Bone nonunion leads to the increase of medical cost and prolonged the hospitalization time of patients,which causes great pain to patients,and also brings great challenges to the treatment of orthopedic surgeons.Therefore,this paper reviews the influencing factors of bone nonunion after IMN for tibial fracture,in order to provide reference for clinical treatment.

To understand the pathogenicity,virulence genes,drug resistance genes,and drug resistance of Staphylococcus aureus isolated from yaks in some areas of Lhasa and Nagqu City,55 yak nasal swab samples were analyzed for S.aureus in this study.The cocci were isolated and identified,and the carriage of virulence genes and drug resistance genes,as well as the pathogenicity and drug sensitivity of the isolated S.aureus strains,were detected with PCR,artificially infected mice,and the K-B drug susceptibility disk method.Seven strains of S.aureus were isolated from the 55 yak nasal swab samples,with an iso-lation rate of 12.73％.The isolated strains were all pathogenic to mice,with a fatality rate exceeding 60％.These seven strains of S.aureus carried three drug resistance genes(tetM,tet,and mecA)and six virulence genes(seb,sec,clfA,hla,hlb,and nuc).The detection rate of the three drug resistance genes was 100％,whereas the detection rate of the six virulence genes in the isolates ranged from 83.33％to 100％.The resistance rates of the isolated strains to penicillin,ampicillin,and cotrimox-azole reached 85.71％-100％,whereas the resistance rates to tetracycline and ceftazidime were both 28.57％.Thus,yaks in Lhasa and Nagqu cities were found to be infected by S.aureus strains carrying various drug-resistance genes and virulence genes.These strains were highly pathogenic and showed sensi-tivity to most antibacterial drugs.These findings may serve as a reference for treating S.aureus infection in yaks in the cities of Lhasa and Nagqu.

OBJECTIVE: To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD). METHODS: A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to "SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. Pathogenicity of the proband's variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was used to verify the variant sites of SLC22A5 gene in the proband and her parents, and the single nucleotide polymorphism (SNP) haplotype of the family was constructed by SNP microarray (SNP array) method to determine the carrier status of pathogenic genes. After fertilization via assisted reproductive technology, whole genome amplification (WGA) was performed on the biopsied trophoblastic cells. Sanger sequencing, next-generation sequencing (NGS), and SNP array techniques were then used to detect the variants in the SLC22A5 gene and chromosome copy number variation (CNV) in the embryos. Embryos without the variants were selected for transferring. After the successful pregnancy of the proband's mother, amniocentesis was not performed for prenatal diagnosis due to repeated vaginal bleeding. After delivery, neonatal peripheral blood sample was collected to verify the results of PGT-M, and follow-up was conducted. This study was reviewed and approved by the Medical Ethics Committee of Hainan Women and Children's Medical Center (Ethics No. HNWCMC-2022-178). RESULTS: In this study, the c.338G>A and c.760C>T variants in SLC22A5 gene were evaluated as pathogenic variants. Sanger sequencing results of this family showed that the c.338G>A and c.760C>T variants of the proband were inherited from his father and mother, respectively. Haplotypes of c.338G>A and c.760C>T variants of SLC22A5 gene were successfully constructed. PGT-M results showed that 2 of the 8 blastulas biopsied failed WGA, and the CNV detection results of the remaining 6 blastocysts were all euploid: 2 had no mutations in the SLC22A5 gene, 3 were single heterozygous carriers of paternal or maternal origin, and 1 was compound heterozygous carriers of paternal and maternal origin. Combined with the embryo morphology score, an intrauterine singleton pregnancy was achieved after the successful transfer of an optimal embryo with no CNV abnormalities and no paternal or maternal SLC22A5 gene mutations, resulting in the birth of a healthy female baby at 38⁺³ weeks of gestation. The results of peripheral blood chromosomal karyotyping analysis, CNV detection and SLC22A5 gene c.338G>A and c.760C>T site variant detection of the infant were consistent with those of PGT-M, and no abnormality was found. CONCLUSION PGT-M had helped the couple carrying SLC22A5 gene variant to have a healthy offspring and effectively blocked the transmission of PCD in this family.
Adult ; Female ; Humans ; Male ; Pregnancy ; Cardiomyopathies ; China ; East Asian People/genetics* ; Genetic Testing/methods* ; High-Throughput Nucleotide Sequencing ; Hyperammonemia/genetics* ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Preimplantation Diagnosis/methods* ; Solute Carrier Family 22 Member 5/genetics* ; Carnitine/deficiency* ; Muscular Diseases

Objective:To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD).Methods:A pedigree affected with PCD who visited Hainan Women and Children′s Medical Center in April 2023 due to " SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. The pathogenicity of the proband′s variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was used to verify the variant sites of SLC22A5 gene in the proband and her parents, and the single nucleotide polymorphism (SNP) haplotype of the family was constructed by SNP microarray (SNP array) method to determine the carryer status of pathogenic genes. After fertilization via assisted reproductive technology, whole genome amplification (WGA) was performed on the biopsied trophoblastic cells. Sanger sequencing, next-generation sequencing (NGS), and SNP array techniques were then used to detect variants in the SLC22A5 gene and chromosomal copy number variation (CNV) in the embryos. Embryos without variant were selected for transferring. After the successful pregnancy of the proband′s mother, amniocentesis was not performed for prenatal diagnosis due to repeated vaginal bleeding. After delivery, neonatal peripheral blood sample was collected to verify the results of PGT-M, and follow-up was conducted. This study was reviewed and approved by the Medical Ethics Committee of Hainan Women and Children′s Medical Center (Ethics No. HNWCMC-2022-178). Results:In this study, the c. 338G>A and c. 760C>T variants in the SLC22A5 gene were evaluated as pathogenic variants. Sanger sequencing results of this family showed that c. 338G>A and c. 760C>T variants in the SLC22A5 gene of the proband were inherited from his father and mother, respectively. The haplotypes of c. 338G>A and c. 760C>T variants of SLC22A5 gene were successfully constructed. PGT-M results showed that 2 of the 8 blastulas biopsied had failed WGA, and the CNV detection results of the remaining 6 blastocysts were all euploid: 2 had no mutations in the SLC22A5 gene, 3 were single heterozygous carriers of paternal or maternal origin, and 1 was compound heterozygous carriers of paternal and maternal origin. Combined with the embryo morphology score, an intrauterine singleton pregnancy was achieved after the successful transfer of an optimal embryo with no CNV abnormalities and no paternal or maternal SLC22A5 gene mutations, resulting in the birth of a healthy female baby at 38 + 3 weeks of gestation. The results of peripheral blood chromosomal karyotyping analysis, CNV detection and SLC22A5 gene c. 338G>A and c. 760C>T site variant detection of the infant were consistent with those of PGT-M, and no abnormality was found. Conclusion:PGT-M had helped the couple carrying SLC22A5 gene variant to have a healthy offspring and effectively blocked the transmission of primary carnitine deficiency in this family.

Objective:To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD).Methods:A pedigree affected with PCD who visited Hainan Women and Children′s Medical Center in April 2023 due to " SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. The pathogenicity of the proband′s variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was used to verify the variant sites of SLC22A5 gene in the proband and her parents, and the single nucleotide polymorphism (SNP) haplotype of the family was constructed by SNP microarray (SNP array) method to determine the carryer status of pathogenic genes. After fertilization via assisted reproductive technology, whole genome amplification (WGA) was performed on the biopsied trophoblastic cells. Sanger sequencing, next-generation sequencing (NGS), and SNP array techniques were then used to detect variants in the SLC22A5 gene and chromosomal copy number variation (CNV) in the embryos. Embryos without variant were selected for transferring. After the successful pregnancy of the proband′s mother, amniocentesis was not performed for prenatal diagnosis due to repeated vaginal bleeding. After delivery, neonatal peripheral blood sample was collected to verify the results of PGT-M, and follow-up was conducted. This study was reviewed and approved by the Medical Ethics Committee of Hainan Women and Children′s Medical Center (Ethics No. HNWCMC-2022-178). Results:In this study, the c. 338G>A and c. 760C>T variants in the SLC22A5 gene were evaluated as pathogenic variants. Sanger sequencing results of this family showed that c. 338G>A and c. 760C>T variants in the SLC22A5 gene of the proband were inherited from his father and mother, respectively. The haplotypes of c. 338G>A and c. 760C>T variants of SLC22A5 gene were successfully constructed. PGT-M results showed that 2 of the 8 blastulas biopsied had failed WGA, and the CNV detection results of the remaining 6 blastocysts were all euploid: 2 had no mutations in the SLC22A5 gene, 3 were single heterozygous carriers of paternal or maternal origin, and 1 was compound heterozygous carriers of paternal and maternal origin. Combined with the embryo morphology score, an intrauterine singleton pregnancy was achieved after the successful transfer of an optimal embryo with no CNV abnormalities and no paternal or maternal SLC22A5 gene mutations, resulting in the birth of a healthy female baby at 38 + 3 weeks of gestation. The results of peripheral blood chromosomal karyotyping analysis, CNV detection and SLC22A5 gene c. 338G>A and c. 760C>T site variant detection of the infant were consistent with those of PGT-M, and no abnormality was found. Conclusion:PGT-M had helped the couple carrying SLC22A5 gene variant to have a healthy offspring and effectively blocked the transmission of primary carnitine deficiency in this family.

OBJECTIVE: To explore the clinical effect of Kirschner wire intramedullary fixation in the treatment of both-bone forearm fractures in children of high altitude area. METHODS: From August 2020 to December 2021, 19 children were treated with Kirschner wire intramedullary fixation including 11 males and 8 females, aged from 4 to 13 years old with an average of (8.16±2.71) years old. The course of disease was 1 to 10 days, with a mean of (4.11±2.51) d. First, close reduction was performed. If the reduction was unsuccessful, limited open reduction was performed, followed by Kirschner wire intramedullary fixation of the radius and ulna. The fracture healing was evaluated by X-ray after operation, and the curative effect was evaluated by Anderson forearm function score standard. RESULTS: The wound healed well after operation, 2 cases had clinical manifestations of needle tail irritation after operation, and the symptoms disappeared after removing the internal fixation. The average follow-up time was(7.68±3.50) months (3 to 14 months). X-ray showed that all fracture healing in follow-up, Anderson forearm function score showed excellent in 16 cases, good in 2 cases and fair in 1 case at the final follow-up. CONCLUSION Children with fractures in plateau areas often have delayed medical treatment, lack of medical conditions and insufficient compliance. Based on these characteristics, Kirschner wire intramedullary fixation for the treatment of children's double forearm fractures has the advantages of small injury and rapid recovery. It is a kind of operation method that can be popularized.
Male ; Female ; Humans ; Child ; Child, Preschool ; Adolescent ; Bone Wires ; Forearm ; Altitude ; Treatment Outcome ; Fractures, Bone/surgery* ; Fracture Fixation, Internal/methods* ; Radius Fractures/surgery* ; Fracture Fixation, Intramedullary/methods*