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 compare changes in retinal and choroidal blood flow in the macular area of eyes with idiopathic macular hole (IMH), fellow eyes, and normal eyes. Additionally, the correlation between these blood flow changes and the occurrence and development of IMH.Methods:A cross-sectional study. From January 2023 to January 2024, 47 patients (47 eyes) diagnosed with IMH (IMH group) in Department of Ophthalmology of The Second Hospital of Hebei Medical University were included in the study. The contralateral eye of IMH eyes was assigned to the contralateral eye group. Healthy volunteers with matched gender and age were selected as the normal control group. Swept-source optical coherence tomography angiography was used to acquire the vessel density (VD) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) in the areas within 0-1 mm and 1-6 mm around the fovea, including the superior, temporal, inferior, and nasal regions. Additionally, the choroidal blood flow area (CBFA) and three-dimensional choroidal vascular index (3D-CVI) were measured. The minimum linear diameter (MLD) and base diameter (BD) of the IMH were manually measured. Spearman correlation analysis was performed to evaluate the correlation between the size of the IMH and the various vascular parameters.Results:Compared with the normal control group, the SCP-VD in the 3rd stage ( t=1.298, P=0.009) and 4th stage ( t=1.264, P<0.000) eyes in the IMH group was significantly decreased, with statistical significance; the DCP-VD ( t=1.958, 2.150, 1.712, 1.667; P=0.027, <0.000, <0.000, <0.000) and 3D-CVI ( t=0.027, 0.030, 0.024, 0.023; P=0.005, 0.003,<0.000, <0.000) in eyes of all stages were significantly decreased, with statistical significance; the CBFA in eyes of stages 2-4 was significantly decreased, with statistical significance ( t=0.027, 0.022, 0.021; P=0.028, 0.002, 0.002). Compared with the contralateral eye group, the DCP-VD and 3D-CVI in the IMH group were significantly reduced, with statistical significance ( Z=?3.289, ?2.704; P=0.001, 0.007). Pairwise comparisons between eyes of different stages in the IMH group showed that SCP-VD was significantly different between stage 2 and stage 4 ( t=1.776, P=0.008); DCP-VD was significantly different between stage 1 and stage 3, and stage 1 and stage 4 ( t=1.685, 1.661; P=0.002, 0.000). Correlation analysis showed that SCP-VD was negatively correlated with MLD and BD ( r=?0.508, ?0.408; P=0.002, 0.014); DCP-VD was negatively correlated with BD ( r=?0.410, P=0.013). Compared with the normal control group, the nasal CBFA in stage 3 and 4 IMH eyes ( t=0.149, 0.145; P=0.005, 0.002), and the nasal 3D-CVI in stage 1 and 3 IMH eyes ( t=0.030, 0.027; P=0.002,<0.000) were significantly decreased, with statistical significance. Conclusions:The SCP-VD, DCP-VD, CBFA, and 3D-CVI in IMH eyes were significantly reduced. SCP-VD showed a negative correlation with MLD and BD, while DCP-VD was only negatively correlated with BD.

Objective:To compare changes in retinal and choroidal blood flow in the macular area of eyes with idiopathic macular hole (IMH), fellow eyes, and normal eyes. Additionally, the correlation between these blood flow changes and the occurrence and development of IMH.Methods:A cross-sectional study. From January 2023 to January 2024, 47 patients (47 eyes) diagnosed with IMH (IMH group) in Department of Ophthalmology of The Second Hospital of Hebei Medical University were included in the study. The contralateral eye of IMH eyes was assigned to the contralateral eye group. Healthy volunteers with matched gender and age were selected as the normal control group. Swept-source optical coherence tomography angiography was used to acquire the vessel density (VD) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) in the areas within 0-1 mm and 1-6 mm around the fovea, including the superior, temporal, inferior, and nasal regions. Additionally, the choroidal blood flow area (CBFA) and three-dimensional choroidal vascular index (3D-CVI) were measured. The minimum linear diameter (MLD) and base diameter (BD) of the IMH were manually measured. Spearman correlation analysis was performed to evaluate the correlation between the size of the IMH and the various vascular parameters.Results:Compared with the normal control group, the SCP-VD in the 3rd stage ( t=1.298, P=0.009) and 4th stage ( t=1.264, P<0.000) eyes in the IMH group was significantly decreased, with statistical significance; the DCP-VD ( t=1.958, 2.150, 1.712, 1.667; P=0.027, <0.000, <0.000, <0.000) and 3D-CVI ( t=0.027, 0.030, 0.024, 0.023; P=0.005, 0.003,<0.000, <0.000) in eyes of all stages were significantly decreased, with statistical significance; the CBFA in eyes of stages 2-4 was significantly decreased, with statistical significance ( t=0.027, 0.022, 0.021; P=0.028, 0.002, 0.002). Compared with the contralateral eye group, the DCP-VD and 3D-CVI in the IMH group were significantly reduced, with statistical significance ( Z=?3.289, ?2.704; P=0.001, 0.007). Pairwise comparisons between eyes of different stages in the IMH group showed that SCP-VD was significantly different between stage 2 and stage 4 ( t=1.776, P=0.008); DCP-VD was significantly different between stage 1 and stage 3, and stage 1 and stage 4 ( t=1.685, 1.661; P=0.002, 0.000). Correlation analysis showed that SCP-VD was negatively correlated with MLD and BD ( r=?0.508, ?0.408; P=0.002, 0.014); DCP-VD was negatively correlated with BD ( r=?0.410, P=0.013). Compared with the normal control group, the nasal CBFA in stage 3 and 4 IMH eyes ( t=0.149, 0.145; P=0.005, 0.002), and the nasal 3D-CVI in stage 1 and 3 IMH eyes ( t=0.030, 0.027; P=0.002,<0.000) were significantly decreased, with statistical significance. Conclusions:The SCP-VD, DCP-VD, CBFA, and 3D-CVI in IMH eyes were significantly reduced. SCP-VD showed a negative correlation with MLD and BD, while DCP-VD was only negatively correlated with BD.

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 den-tures,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,im-plant 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 signifi-cant complications occurred during the follow-up period,such as infections,titanium plate exposure,im-plant 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 pa-rameters 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 im-plant 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.

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 efficacy of ultrasound volume navigation (UVN) and that of O-arm navigation in the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation.Methods:A retrospective study was conducted to analyze the clinical data of 29 patients with thoracolumbar vertebral fracture who had been treated with percutaneous pedicle screw fixation at Department Ⅰ of Minimally Invasive Spinal Surgery, Luoyang Orthopedic Hospital from January 2022 to June 2023. The patients were assigned into 2 groups according to different navigation methods. In group UVN of 17 cases, there were 14 males and 3 females with a mean age of 50.0 (44.0, 53.5) years, and the pedicle screw fixation was guided by UVN; in group O-arm of 12 cases, there were 10 males and 2 females with an age of (40.6±11.1) years, and the pedicle screw fixation was guided by O-arm navigation. The 2 groups were compared in terms of insertion time per screw, total dose of intraoperative radiation, radiation dose per screw, accuracy of screw placement, rate of facet joint violation, and visual analogue scale (VAS) pain scores for lumbar pain at postoperative 1, 3, and 6 months.Results:There were no statistically significant differences in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). There was no statistically significant difference in the insertion time per screw between group UVN and group O-arm [(13.2±1.3) min versus (14.1±1.3) min] ( P>0.05). The total dose of intraoperative radiation and radiation dose per screw in group UVN [(1.80±0.54) mSv and (0.41±0.10) mSv] were significantly lower than those in group O-arm [(3.52±0.33) mSv and (0.85±0.11) mSv] ( P<0.05). The accuracy of screw placement and rate of facet joint violation in group UVN [94.7% (71/75) and 17.6% (3/17)] were not significantly different from those in group O-arm [92.2% (47/51) and 8.3% (1/12)]] ( P>0.05). The VAS score at postoperative 1 month in group UVN [4.0 (3.5, 5.0) points] was significantly lower than that in group O-arm [5.0 (5.0, 6.0) points] ( P<0.05). There were no statistically significant differences between the 2 groups in the VAS pain scores at postoperative 3 and 6 months ( P>0.05). Conclusions:In the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation, screw placement guided by UVN is as time-saving, intuitive, and accurate as that guided by O-arm navigation. However, UVN is better than O-arm navigation in radiation avoidance and pain relief.

Objective:To compare the efficacy of ultrasound volume navigation (UVN) and that of O-arm navigation in the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation.Methods:A retrospective study was conducted to analyze the clinical data of 29 patients with thoracolumbar vertebral fracture who had been treated with percutaneous pedicle screw fixation at Department Ⅰ of Minimally Invasive Spinal Surgery, Luoyang Orthopedic Hospital from January 2022 to June 2023. The patients were assigned into 2 groups according to different navigation methods. In group UVN of 17 cases, there were 14 males and 3 females with a mean age of 50.0 (44.0, 53.5) years, and the pedicle screw fixation was guided by UVN; in group O-arm of 12 cases, there were 10 males and 2 females with an age of (40.6±11.1) years, and the pedicle screw fixation was guided by O-arm navigation. The 2 groups were compared in terms of insertion time per screw, total dose of intraoperative radiation, radiation dose per screw, accuracy of screw placement, rate of facet joint violation, and visual analogue scale (VAS) pain scores for lumbar pain at postoperative 1, 3, and 6 months.Results:There were no statistically significant differences in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). There was no statistically significant difference in the insertion time per screw between group UVN and group O-arm [(13.2±1.3) min versus (14.1±1.3) min] ( P>0.05). The total dose of intraoperative radiation and radiation dose per screw in group UVN [(1.80±0.54) mSv and (0.41±0.10) mSv] were significantly lower than those in group O-arm [(3.52±0.33) mSv and (0.85±0.11) mSv] ( P<0.05). The accuracy of screw placement and rate of facet joint violation in group UVN [94.7% (71/75) and 17.6% (3/17)] were not significantly different from those in group O-arm [92.2% (47/51) and 8.3% (1/12)]] ( P>0.05). The VAS score at postoperative 1 month in group UVN [4.0 (3.5, 5.0) points] was significantly lower than that in group O-arm [5.0 (5.0, 6.0) points] ( P<0.05). There were no statistically significant differences between the 2 groups in the VAS pain scores at postoperative 3 and 6 months ( P>0.05). Conclusions:In the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation, screw placement guided by UVN is as time-saving, intuitive, and accurate as that guided by O-arm navigation. However, UVN is better than O-arm navigation in radiation avoidance and pain relief.

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 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 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.