OBJECTIVE: To investigate the molecular mechanism of weak D phenotype in a Chinese family. METHODS: Routine Rh typing tests were performed first, and RHD exons 1-10 of the proband and his family members were sequenced by first-generation sequencing. RHD zygosity was also determined. Third-generation sequencing was used to analyze the haplotypes of the RHD gene. RESULTS: The proband showed a weak D serological phenotype. First-generation sequencing revealed a c.787G>A point mutation in exon 5. The family pedigree investigation showed that the proband and his younger sister had the same serological phenotype and molecular mechanism. His father carried this gene mutation, while his mother and younger brother were normal. Hybrid box was not detected, suggesting that all the family members did not have a haplotype with a complete deletion of the RHD gene. The results of third-generation sequencing showed that the proband and his sister inherited the weak D allele from their father and the non-functional allele RHD -CE(3-9)-D from their mother, respectively. CONCLUSION Third-generation sequencing technology enables haplotype analysis of the RHD gene and can detect complex genotypes such as genetic exchanges between RHD and RHCE combined with other mutations.
Female ; Humans ; Male ; Alleles ; Exons ; Genotype ; Haplotypes ; High-Throughput Nucleotide Sequencing ; Pedigree ; Phenotype ; Rh-Hr Blood-Group System/genetics* ; East Asian People/genetics*

Objective To design a VR-based air evacuation training system for simulating the on-board medical treatment process during air evacuation.Methods A VR-based air evacuation training system was developed which used 3D modeling technology to construct models of the medical aircraft cabin,medical devices and virtual characters to achieve scene interaction.The hardware part of the system included server computers,training terminal computers,VR equipment,3D fusion projection equipment,motion capture equipment,etc.The software of the system was developed using C++,UE4 Blueprint and C# programming languages,including two modules for medical treatment unit and medical treatment training process evaluation.The efficacy of the system was verified by the trials in air evacuation.Results The system developed successfully simulated the scenarios of tracheal tube dislodgement and increased intracranial pressure in the scenario model of open severe craniocerebral injury.The expert evaluation showed that the system gained advantages in training efficiency,low cost,safety,sense of immersion and recorded the operation data in real time to optimize the follow-up training.Conclusion The system developed delivers a virtual training environment with high-fidelity replication of real-mission conditions,enabling whole-course and immersive air evacuation drills.[Chinese Medical Equipment Journal,2025,46(3):15-20]

Objective To investigate the anatomical foundation of endoscopic surgical approach of transmandibular angle to jugular foramen region.Methods Five wet cadaveric head specimens were collected and dissected through the endoscopic surgical approach of transmandibular angle to jugular foramen region.The relevant anatomical structures were observed and the depth and angle of operation were measured.Results A pedicled mandibular angle bone flap was formed by this surgical approach,and the length was(23.74±0.95)mm,the width was(18.95±0.56)mm.The operative depth after displacement of the mandibular angle bone flap was(8.54±0.55)mm,the operative depth after reduction of the mandibular angle bone flap was(24.94±0.90)mm,and the difference was statistically significant(P<0.05).The operative angle after displacement of the mandibular angle bone flap was(69.60±3.30)°,and the operative angle after reduction of the mandibular angle bone flap was(26.20±2.20)°,and the difference was statistically significant(P<0.05).Conclusion The endoscopic surgical approach of transmandibular angle to jugular foramen region forms pedicled mandibular angle bone flap,which can increase the operation angle,shorten the operation depth and improve the freedom of operation.This surgical approach is worthy of further study and discussion in clinical practice.

Objective To design a VR-based air evacuation training system for simulating the on-board medical treatment process during air evacuation.Methods A VR-based air evacuation training system was developed which used 3D modeling technology to construct models of the medical aircraft cabin,medical devices and virtual characters to achieve scene interaction.The hardware part of the system included server computers,training terminal computers,VR equipment,3D fusion projection equipment,motion capture equipment,etc.The software of the system was developed using C++,UE4 Blueprint and C# programming languages,including two modules for medical treatment unit and medical treatment training process evaluation.The efficacy of the system was verified by the trials in air evacuation.Results The system developed successfully simulated the scenarios of tracheal tube dislodgement and increased intracranial pressure in the scenario model of open severe craniocerebral injury.The expert evaluation showed that the system gained advantages in training efficiency,low cost,safety,sense of immersion and recorded the operation data in real time to optimize the follow-up training.Conclusion The system developed delivers a virtual training environment with high-fidelity replication of real-mission conditions,enabling whole-course and immersive air evacuation drills.[Chinese Medical Equipment Journal,2025,46(3):15-20]

Objective To investigate the anatomical foundation of endoscopic surgical approach of transmandibular angle to jugular foramen region.Methods Five wet cadaveric head specimens were collected and dissected through the endoscopic surgical approach of transmandibular angle to jugular foramen region.The relevant anatomical structures were observed and the depth and angle of operation were measured.Results A pedicled mandibular angle bone flap was formed by this surgical approach,and the length was(23.74±0.95)mm,the width was(18.95±0.56)mm.The operative depth after displacement of the mandibular angle bone flap was(8.54±0.55)mm,the operative depth after reduction of the mandibular angle bone flap was(24.94±0.90)mm,and the difference was statistically significant(P<0.05).The operative angle after displacement of the mandibular angle bone flap was(69.60±3.30)°,and the operative angle after reduction of the mandibular angle bone flap was(26.20±2.20)°,and the difference was statistically significant(P<0.05).Conclusion The endoscopic surgical approach of transmandibular angle to jugular foramen region forms pedicled mandibular angle bone flap,which can increase the operation angle,shorten the operation depth and improve the freedom of operation.This surgical approach is worthy of further study and discussion in clinical practice.

Objective To explore medium and long term efficacy of oblique lateral interbody fusion(OLIF)in treating lumbar specific infection.Methods From October 2017 to January 2021,24 patients with lumbar specific infection were treated by OLIF combined with vertebral screw internal fixation,including 15 males and 9 females,aged from 27 to 61 years old with an average of(43.0±15.0)years old;the courses of disease ranged from 6 to 24 months with an average of(14.0±7.0)months;7 patients with L2-L3,12 patients with L3-L4 and 5 patients with L4-L5;19 patients with tuberculosis infection and 5 patients with brucella infection.The amount of intraoperative blood loss,operative time and complications were recorded,and erythro-cyte sedimentation rate(ESR),C-reactive protein(CRP),visual analogue scale(VAS),Japanese Orthopaedic Association(JOA)score and American Spinal Injury Association(ASIA)rating were compared before and one month after opertaion.Re-sults All patients were followed up from 9 to 24 months with an average of(13.0±6.0)months.Operative time was(132.5±21.4)min,and intraoperative blood loss was(227.3±43.1)ml.ESR and CRP were decreased from(82.34±18.62)mmol·h-1 and(53.08±21.84)mg·L-1 before operation to(33.52±17.31)mmol·h-1 and(15.48±8.36)mg·L-1 at one month after opera-tion,respectively(P＜0.05).VAS was decreased from(7.52±1.36)before opertaion to(1.74±0.87)at one month after opera-tion(P＜0.05).JOA was increased from(17.86±3.95)before operation to(24.72±3.19)at one month after operation(P＜0.05).Four patients had neurological symptoms before operation,and were classified to grade D according to ASIA classifica-tion,who were recovered to grade E at 1 month after operation.One patient was suffered from psoas major muscle injury after operation,and returned to normal at 3 weeks.One patient was suffered from abdominal distension and difficulty in defecation,and relieved after gastrointestinal decompression and enema.No complications such as abdominal organ injury and poor wound healing occurred in all patients.Conclusion OLIF combined with vertebral screw internal fixation is a new minimally invasive surgical method for the treatment of lumbar specific infection,especially the lesion located on the middle lumbar vertebra.It has advantages of less trauma,short operation time,less blood loss,convenient operation,complete removal of the lesion,safety and effectiveness,and has good medium-and long-term efficacy for lumbar specific infection.

Background/Aims: Despite the high efficacy of direct-acting antivirals (DAAs), approximately 1–3% of hepatitis C virus (HCV) patients fail to achieve a sustained virological response. We conducted a nationwide study to investigate risk factors associated with DAA treatment failure. Machine-learning algorithms have been applied to discriminate subjects who may fail to respond to DAA therapy. Methods: We analyzed the Taiwan HCV Registry Program database to explore predictors of DAA failure in HCV patients. Fifty-five host and virological features were assessed using multivariate logistic regression, decision tree, random forest, eXtreme Gradient Boosting (XGBoost), and artificial neural network. The primary outcome was undetectable HCV RNA at 12 weeks after the end of treatment. Results: The training (n=23,955) and validation (n=10,346) datasets had similar baseline demographics, with an overall DAA failure rate of 1.6% (n=538). Multivariate logistic regression analysis revealed that liver cirrhosis, hepatocellular carcinoma, poor DAA adherence, and higher hemoglobin A1c were significantly associated with virological failure. XGBoost outperformed the other algorithms and logistic regression models, with an area under the receiver operating characteristic curve of 1.000 in the training dataset and 0.803 in the validation dataset. The top five predictors of treatment failure were HCV RNA, body mass index, α-fetoprotein, platelets, and FIB-4 index. The accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of the XGBoost model (cutoff value=0.5) were 99.5%, 69.7%, 99.9%, 97.4%, and 99.5%, respectively, for the entire dataset. Conclusions Machine learning algorithms effectively provide risk stratification for DAA failure and additional information on the factors associated with DAA failure.

Background/Aims: Chronic hepatitis C (CHC) patients who failed antiviral therapy are at increased risk for hepatocellular carcinoma (HCC). This study assessed the potential role of metformin and statins, medications for diabetes mellitus (DM) and hyperlipidemia (HLP), in reducing HCC risk among these patients. Methods: We included CHC patients from the T-COACH study who failed antiviral therapy. We tracked the onset of HCC 1.5 years post-therapy by linking to Taiwan’s cancer registry data from 2003 to 2019. We accounted for death and liver transplantation as competing risks and employed Gray’s cumulative incidence and Cox subdistribution hazards models to analyze HCC development. Results: Out of 2,779 patients, 480 (17.3%) developed HCC post-therapy. DM patients not using metformin had a 51% increased risk of HCC compared to non-DM patients, while HLP patients on statins had a 50% reduced risk compared to those without HLP. The 5-year HCC incidence was significantly higher for metformin non-users (16.5%) versus non-DM patients (11.3%; adjusted sub-distribution hazard ratio [aSHR]=1.51; P=0.007) and metformin users (3.1%; aSHR=1.59; P=0.022). Statin use in HLP patients correlated with a lower HCC risk (3.8%) compared to non-HLP patients (12.5%; aSHR=0.50; P<0.001). Notably, the increased HCC risk associated with non-use of metformin was primarily seen in non-cirrhotic patients, whereas statins decreased HCC risk in both cirrhotic and non-cirrhotic patients. Conclusions Metformin and statins may have a chemopreventive effect against HCC in CHC patients who failed antiviral therapy. These results support the need for personalized preventive strategies in managing HCC risk.

Objective:To investigate the clinicopathologic features and differential diagnosis of ureteral fibroepithelial polyps.Methods:The clinicopathologic features and prognosis of ureteral fibroepithelial polyps with complete data retrieved from the pathology database of the Institute of Urology, Peking University from January 2013 to December 2021 were collected and analyzed. All HE staining sections were reviewed by a senior urologic pathologist. Immunohistochemical analysis was done in some cases for differential diagnosis. The clinical, imaging and outcome data were collected, and discussed together with relevant literature.Results:There were 45 patients with complete clinicopathologic data, including 34 males and 11 females (male: female=3.1∶1.0), with a median age of 36 (range 13-80) years. Preoperative diagnosis included polyp in 23 cases, tumor in 19 cases and calculi in 3 cases. The main clinical symptoms were hematuria (13 cases), low back and abdominal pain (9 cases) and no symptoms (9 cases). There were 29 cases of multiple polyps, 16 cases of single polyp; 32 cases were on the left side, 13 cases were on the right side; 29 cases of upper polyps, 9 cases of middle polyps, and 6 cases of lower polyps. Twenty-seven patients had no related urologic history, 10 patients had history of urolithiasis, and the rest had history of stents, strictures or tumors. Local ureteral resection and anastomosis were the most common treatment (20 cases), followed by ureteroscopic polypectomy (12 cases). The patients were followed up from the pathological diagnosis to the cut-off time: 4 cases were lost to follow-up, and the remaining 34 cases were followed up for 3 to 85 (mean 60 months). One case had polyp recurrence after 3 months, and the other case had polyp recurrence after 2 years. Fibroepithelial polyps had a variety of gross manifestations, ranging from elongated polyps or small papillary and polypoid to large papillary masses. Microscopically, they were divided into type 1, type 2 and type 3, and the type 3 was the most common type (28 cases). In this study, there were 41 cases of simple fibroepithelial polyp, 2 cases of malignant transformation of polyps into urothelial carcinoma, one case of polyps with urothelial carcinoma, and one case of polyp with surface urothelial carcinoma in situ; the stroma showed myofibroblastic proliferation.Conclusions:The clinical manifestations and morphologic characteristics of ureteral fibroepithelial polyps are diverse. The three microscopic types are easily confused with many benign and malignant ureteral diseases, such as inflammatory polyps, adenocystitis, papilloma, etc. Awareness of the key differentiation points and judicious use of immunohistochemistry will be helpful for the diagnosis and differential diagnosis.

Humans ; Transcatheter Aortic Valve Replacement ; Aortic Valve/surgery* ; Heart Valve Prosthesis Implantation ; Aortic Valve Stenosis/surgery* ; Treatment Outcome ; Heart Valve Prosthesis