OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

OBJECTIVE: To evaluate the clinical outcomes and define the indications for a one-stage mandibular reconstruction technique that combines iliac bone flaps with immediate implant-based dentures, and to assess both the accuracy of surgical planning and the long-term success of the procedure. METHODS: A total of ten patients underwent the procedure at Peking University Hospital of Stomatology between June 2020 and August 2023. The preoperative biopsy pathology of all the patients confirmed a benign tumor. In this technique, iliac bone flaps were used for mandibular reconstruction, and immediate implant-based dentures were placed during the same surgical session. Various outcome measures were evaluated, including the accuracy of the surgical reconstruction, implant placement deviations (entry point, apical point, depth, and angle), and long-term outcomes, such as cervical bone resorption, implant survival, and the cumulative survival rate. RESULTS: Thirty-eight implants were successfully inserted into the iliac flaps of the ten patients. The median follow-up duration was 23.5 months, and no significant complications occurred during the follow-up period, such as infections, titanium plate exposure, implant loosening, or damage to the implants and dentures. The accuracy of preoperative virtual surgical planning (VSP) was highly reliable. The repeatability of the VSP model compared to the postoperative reconstructed mandible was as follows: 67.82% ±10.16% within 1 mm, 82.14% ±6.58% within 2 mm, and 90.61% ±4.62% within 3 mm. The average maximum deviation from the plan was (6.10±0.89) mm, with an average overall deviation of (1.14±0.31) mm. For the implants, deviations in critical parameters were as follows: entry point deviation was (2.02±0.58) mm, apical point deviation was (2.25± 0.66) mm, depth deviation was (1.26±0.51) mm, and angular deviation was 1.84°±1.10°. The implant survival rate remained 100% during the follow-up, with a cumulative survival rate of 97.37% from 1 to 4 years. Average cervical bone resorption was 0.94 mm. CONCLUSION The combination of iliac bone flaps with immediate implant-based dentures for one-stage mandibular reconstruction demonstrated pro-mising clinical outcomes, including high implant survival and minimal complications. This technique proved to be safe and reliable for mandibular reconstruction. However, further studies with larger sample sizes and longer follow-up periods are necessary to confirm the long-term efficacy and optimal indications for this procedure.
Humans ; Mandibular Reconstruction/methods* ; Male ; Ilium/surgery* ; Female ; Middle Aged ; Surgical Flaps ; Adult ; Mandible/surgery* ; Aged ; Dental Implantation, Endosseous/methods* ; Immediate Dental Implant Loading/methods* ; Bone Transplantation/methods* ; Dental Implants

AIM: To study the effect and mechanism of Di'ao Xinxuekang (DXXK) on insulin resistance in nonalcoholic steatohepatitis (NASH) mice. METHODS: C57BL/6J mice were randomly divided into normal group and model group. After 16 weeks of high-fat diet, the model group was randomly divided into model group and Pioglitazone group (6.0 mg · kg

OBJECTIVE: To compare the effectiveness of O-arm navigation and ultrasound volume navigation (UVN) in guiding screw placement during minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) surgery. METHODS: Sixty patients who underwent MIS-TLIF surgery for lumbar disc herniation between June 2022 and June 2023 and met the selection criteria were included in the study. They were randomly assigned to group A (screw placement guided by UVN during MIS-TLIF) or group B (screw placement guided by O-arm navigation during MIS-TLIF), with 30 cases in each group. There was no significant difference in baseline data, including gender, age, body mass index, and surgical segment, between the two groups ( P>0.05). Intraoperative data, including average single screw placement time, total radiation dose, and average single screw effective radiation dose, were recorded and calculated. Postoperatively, X-ray film and CT scans were performed at 10 days to evaluate screw placement accuracy and assess facet joint violation. Pearson correlation and Spearman correlation analyses were used to observe the relationship between the studied parameters (average single screw placement time and screw placement accuracy grading) and BMI. RESULTS: The average single screw placement time in group B was significantly shorter than that in group A, and the total radiation dose of single segment and multi-segment and the average single screw effective radiation dose in group B were significantly higher than those in group A ( P<0.05). There was no significant difference in the total radiation dose between single segment and multiple segments in group B ( P>0.05), while the total radiation dose of multiple segments was significantly higher than that of single segment in group A ( P<0.05). No significant difference was found in the accuracy of screw implantation between the two groups ( P>0.05). In both groups, the grade 1 and grade 2 screws broke through the outer wall of the pedicle, and no screw broke through the inner wall of the pedicle. There was no significant difference in the rate of facet joint violation between the two groups ( P>0.05). In group A, both the average single screw placement time and screw placement accuracy grading were positively correlated with BMI ( r=0.677, P<0.001; r=0.222, P=0.012), while in group B, neither of them was correlated with BMI ( r=0.224, P=0.233; r=0.034, P=0.697). CONCLUSION UVN-guided screw placement in MIS-TLIF surgery demonstrates comparable efficiency, visualization, and accuracy to O-arm navigation, while significantly reducing radiation exposure. However, it may be influenced by factors such as obesity, which poses certain limitations.
Humans ; Imaging, Three-Dimensional ; Lumbar Vertebrae/surgery* ; Minimally Invasive Surgical Procedures ; Pedicle Screws ; Retrospective Studies ; Spinal Fusion ; Surgery, Computer-Assisted ; Tomography, X-Ray Computed ; Treatment Outcome

Objective To investigate the influencing factors for direct-acting antiviral agent (DAA) therapy failure in the treatment of hepatitis C by comparing baseline clinical data and resistance-associated substitution (RAS) in sequencing data between the patients with HCV RNA reactivation after DAA therapy and the patients with successful DAA treatment. Methods A total of 13 patients from multiple centers who failed DAA therapy from November 2019 to October 2021 were enrolled as treatment failure group, and sequencing was performed for their positive serum samples. A total of 51 patients with successful DAA treatment were enrolled as control group, and baseline clinical data and sequencing results were compared between the treatment failure group and the control group. The Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups, and the chi-square test was used for comparison of categorical data between groups; univariate and multivariate logistic regression analyses were performed to calculate odds ratio ( OR ) and investigate the influencing factors for treatment failure. Results All 12 patients with complete treatment data experienced recurrence within 1 year after the end of medication. The male patients with treatment failure had significantly higher baseline total bilirubin, direct bilirubin, and creatinine than their female counterparts ( Z =-2.517, -2.440, and -2.132, P =0.010, 0.010, and 0.038), and the patients with an age of ≤55 years ( OR =5.152, 95% confidence interval [ CI ]: 1.116-23.790, P =0.036) or genotype 3b ( OR =9.726, 95% CI : 1.325-71.398, P =0.025) had a higher probability of treatment failure. There were differences in the incidence rates of major RAS mutations on three gene fragments between the treatment failure group and the treatment success group, and the common RAS mutations detected in the treatment failure group were not detected in the treatment success group. Conclusion Age, genotype, and RAS in serum virus gene sequence are influencing factors for DAA treatment failure.

Objective:To investigate the pathological subtypes and clinicopathological characteristics of the non-squamous immunophenotype nasopharyngeal carcinoma (NSNPC).Methods:The clinicopathological features of the non-squamous immunophenotype nasopharyngeal carcinoma diagnosed between 2011 and 2019 at the First Affiliated Hospital of Zhengzhou University were analyzed using hematoxylin and eosin staining, immunohistochemistry, in situ hybridization, transmission electron microscopy and PCR gene rearrangement. Follow-up data were also collected.Results:There were 14 males and 9 females with a median age of 46 years (ranging from 16 to 76 years) with an average age of 45 years. Microscopically, patterns were similar to the classic nasopharyngeal carcinoma. Immunohistochemistry showed that most NSNPC cases expressed low molecular weight keratin (CK8/18, CK8 and CKL) and expressed pathway proteins in a low level (EGFR, PI3K, p-AKT and p-mTOR), which had significant difference from classic nasopharyngeal carcinoma group ( P<0.05). Other proteins including CK5/6, CKpan, CK7, Syn, CD56, CgA, SOX-10, AKT, mTOR, Notch, STAT3 and p-STAT3 showed no statistical difference between the two groups. Pathogen detection showed that EBER was positive (18/23, 78.3%) and HPV positive(2/23, 8.7%)which were HPV35 and HPV38. The cancer suppressor gene BLU was highly expressed in NSNPC; RASSF1 and Rbms3 were less expressed in NSNPC, in line with classic NPC. As a whole, NSNPC was characterized by ultrastructures of low-differentiated squamous cell carcinoma. Compared with classic nasopharyngeal carcinoma, NSNPC had a lower recurrence rate and earlier clinical stage( P<0.05),but there was no significant correlation with age, sex, distant metastasis and death ( P>0.05). Conclusions:The histological morphology, etiology and gene changes of NSNPC are similar to those of classical nasopharyngeal carcinoma and ultrastructural findings show that NSNPC still belongs to undifferentiated type in non-keratinized squamous cell carcinoma. The malignant degree of NSNPC is low and the prognosis is good.

Objective:To explore the association between location of lower extremity deep venous thrombosis and incidence of pulmonary embolism in patients with lower extremity fracture during hospitalization.Methods:A retrospective study was conducted of the 1,620 patients who had been treated for lower extremity fracture and deep vein thrombosis from October 2014 to November 2019 at Department of Orthopaedic Trauma, Honghui Hospital. They were 726 males and 894 females, aged from 18 to 98 years (average, 64.0 years). By the anatomical location of thrombosis, they were divided into a proximal thrombosis group and a distal thrombosis group; by the laterality of thrombosis, they were divided into a bilateral thrombosis group and a unilateral thrombosis group which was further divided into a left thrombosis subgroup and a right thrombosis subgroup. The incidences of pulmonary embolism were compared between 2 corresponding groups and subgroups.Results:Pulmonary embolism occurred in 13 of the 1,400 patients with distal thrombosis and in 12 of the 220 patients with proximal thrombosis; the incidence of pulmonary embolism in the proximal thrombosis group (5.45%, 12/220) was significantly higher than that in the distal thrombosis group (0.93%, 13/1,400) ( P<0.001). Pulmonary embolism occurred in 10 of the 337 patients with bilateral thrombosis and in 15 of the 1,283 patients with unilateral thrombosis; the incidence of pulmonary embolism in the bilateral thrombosis subgroup (2.97%, 10/337) was significantly higher than that in the unilateral thrombosis group (1.17%, 15/1,283) ( P=0.017). Pulmonary embolism occurred in 5 of the 677 patients with left thrombosis and in 10 of the 606 patients with right thrombosis; the incidence of pulmonary embolism in the right thrombosis subgroup (1.65%, 10/606) was insignificantly higher than that in the left thrombosis subgroup (0.74%, 5/677) ( P=0.129). Conclusions:In patients with lower extremity fracture, those with proximal or bilateral thrombosis are more prone to pulmonary embolism than those with distal or unilateral thrombosis, but the possibility of pulmonary embolism cannot be ignored clinically in those with distal or unilateral thrombosis.

To establish HPLC dual-wavelength fingerprint of Artemisia rupestris L. , and provide a scientific basis for the improvement of its quality specifications. The separation was performed on an Agilent Zorbax SB-C18(4. 6 mm×250 mm, 5 μm)column maintained at 32 ℃, with methanol-0. 2% formic acid-water gradient elution at flow rate of 1. 0 mL/min and the UV detection wavelength at both 245 and 325 nm. The sample injection volume was 20 μL. The fingerprint of Artemisia rupestris L. was established. 7 and 8 common peaks were found, respectively, of which 5 common peaks were identified, and the similarity among 9 batches of Artemisia rupestris L. and the fingerprints of control was over 0. 9. The HPLC dual-wavelength fingerprint of Artemisia rupestris L. was established for the first time, providing a new scientific basis for its identification and quality control.

This study aimed to investigate whether β-elemene could improve the dysfunction of vascular endothelial cells induced by low shear force (LSS), and the proliferation and migration of vascular smooth muscle cells induced by oxidized low-density lipoprotein (ox-LDL). Parallel plate flow chambers and ox-LDL were used to establish vascular endothelial cells (ECs) dysfunction model and vascular smooth muscle cell (VSMCs) proliferation and migration model, respectively, and the effects of β-elemene on ECs dysfunction and VSMCs proliferation and migration were examined. The activity of ROS in ECs was measured by DHE and the activity of NO in ECs was tested by DAF-FM DA. The protein phosphorylation of Akt and ERK in ECs were detected by Western blot. The proliferation of VSMCs was measured by MTT. The migration of VSMCs was examined by cell scratch test and Transwell assay. The gene expression of MMP-2 and MMP-9 in VSMCs was measured by RT-qPCR. In ECs, β-elemene could significantly reduce the LSS-induced increase in ROS, significantly increase the LSS-induced decrease in NO, decrease the phosphorylation of ERK, and increase the phosphorylation of Akt. In VSMCs, β-elemene could significantly reduce the proliferation and migration of VSMCs induced by ox-LDL, and reduce the gene expression of MMP-2 and MMP-9. To conclude, β-elemene can improve the LSS-induced ECs dysfunction and ox-LDL-induced VSMCs proliferation and migration.

Spike recorded by multi-channel microelectrode array is very weak and susceptible to interference, whose noisy characteristic affects the accuracy of spike detection. Aiming at the independent white noise, correlation noise and colored noise in the process of spike detection, combining principal component analysis (PCA), wavelet analysis and adaptive time-frequency analysis, a new denoising method (PCWE) that combines PCA-wavelet (PCAW) and ensemble empirical mode decomposition is proposed. Firstly, the principal component was extracted and removed as correlation noise using PCA. Then the wavelet-threshold method was used to remove the independent white noise. Finally, EEMD was used to decompose the noise into the intrinsic modal function of each layer and remove the colored noise. The simulation results showed that PCWE can increase the signal-to-noise ratio by about 2.67 dB and decrease the standard deviation by about 0.4 μV, which apparently improved the accuracy of spike detection. The results of measured data showed that PCWE can increase the signal-to-noise ratio by about 1.33 dB and reduce the standard deviation by about 18.33 μV, which showed its good denoising performance. The results of this study suggests that PCWE can improve the reliability of spike signal and provide an accurate and effective spike denoising new method for the encoding and decoding of neural signal.
Algorithms ; Microelectrodes ; Principal Component Analysis ; Reproducibility of Results ; Signal Processing, Computer-Assisted ; Signal-To-Noise Ratio ; Wavelet Analysis