OBJECTIVE: To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics. METHODS: A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing. This study was approved by the Medical Ethics Committee of Xuzhou Maternity and Child Health Care Hospital (Ethics No.XZFY2024-051K-01J). RESULTS: A total of 691 712 neonates were screened for UCDs using MS/MS, which identified 1 237, 1 237, 510, and 1 009 initial positive cases for OTCD, CPS1D, ASSD, and ARGD, respectively. After genetic testing, 1 case of OTCD, 1 case of CPS1D, 1 case of ASSD, and 7 cases of ARGD were confirmed. The overall positive predictive value for these four UCDs was 0.362%. Among the 10 diagnosed UCD cases, four novel variants were identified, which included OTC: c.1024C>A (p.L342M) and ASS1: c.826A>G (p.M276V), c.695C>T (p.P232L) and c.694C>T (p.P232S). Bioinformatic analysis has rated these as variants of uncertain clinical significance or likely pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The incidence of four UCDs in neonates from the Xuzhou area is relatively low, and there is a correlation between genetic variants and clinical phenotypes. For novel variants with uncertain clinical significance or suspected pathogenicity, their pathogenicity should be clarified in conjunction with clinical and biochemical indicators. The four novel pathogenic variants of UCDs identified in this study have enriched the mutational spectrum of UCDs-associated genes in the Xuzhou region.
Humans ; Infant, Newborn ; Tandem Mass Spectrometry/methods* ; Urea Cycle Disorders, Inborn/diagnosis* ; Neonatal Screening/methods* ; Genetic Testing/methods* ; Female ; Retrospective Studies ; Male ; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis* ; Mutation ; Carbamoyl-Phosphate Synthase (Ammonia)/genetics* ; Ornithine Carbamoyltransferase/genetics*

Objective:To explore the efficacy of percutaneous vertebroplasty (PVP) using the partition injection technique in the treatment of Kümmell’s disease of stages Ⅰ and Ⅱ.Methods:A retrospective study was conducted of the 30 patients with stage Ⅰ or Ⅱ Kümmell’s disease (the partition group) who had been treated by PVP using the partition injection technique at Department of Spinal Surgery, Zhengzhou Orthopedic Hospital from January 2020 to January 2022. The data of another 30 patients who had been treated at the same department and the same period using conventional PVP for stage Ⅰ or Ⅱ Kümmell's disease were selected as the conventional group. In the partition group, there were 13 males and 17 females, with an age of (72.3±10.1) years and disease duration of (3.1±1.5) months. Seventeen thoracic and 13 lumbar vertebrae were affected. In the conventional group, there were 11 males and 19 females, with an age of (75.5±12.7) years and disease duration of (3.5±1.8) months. Eighteen thoracic and 12 lumbar vertebrae were affected. Surgical time, volume of bone cement injected, bone cement leakage, and bone cement distribution were compared between the 2 groups. The heights of the anterior and middle vertebral bodies, kyphotic Cobb angle, visual analog scale (VAS) pain score, and Oswestry disability index (ODI) were assessed postoperatively at 1 day, 6 months, and the last follow-up and compared between the 2 groups.Results:No significant differences were found in the baseline data between the 2 groups, indicating comparability ( P>0.05). All patients were followed up for (17.3±3.1) months. There were no significant differences in the surgical time or bone cement leakage between the 2 groups ( P>0.05). The volume of bone cement injected in the partition group was significantly higher [(6.3±1.5) mL] than that in the conventional group [(4.9±1.0) mL] ( P<0.05). Bone cement distribution was significantly better in the partition group than that in the conventional group ( P<0.05). At postoperative 1 day, 6 months, and the last follow-up, the partition group was significantly better than the conventional group in anterior vertebral body height, middle vertebral body height, and kyphotic Cobb angle ( P<0.05). At the 6-month and the last follow-ups, the partition group was also significantly better than the conventional group in VAS pain score and ODI ( P<0.05). Conclusion:In the treatment of Kümmell’s disease of stages Ⅰ and Ⅱ, compared with conventional PVP, PVP using the partition injection technique may lead to better long-term outcomes due to its better bone cement distribution, more adequate cement injection, and better restoration of vertebral body heights and correction of local deformity.

The rapid and non-destructive detection of constituent content of fresh tea leaves shows an important reference value for quality identification of tea.Visible near infrared(Vis-NIR)spectroscopy has been used for qualitative and quantitative analysis of chemical components in plant samples with the advantages such as simple,rapid and non-destructive detection.In this study,residual attention convolutional neural network(RACNN)was used to predict the internal constituent content of fresh tea leaves.Firstly,the reflectance spectral data of the samples in the Vis-NIR band range and the constituent contents of gallic acid(GA),gallocatechin(GC),epigallocatechin(EGC),and epigallocatechin gallate(ECG)in fresh tea leaves were collected.Based on the preprocessing of the spectral data,the contents of the four components were predicted using a partial least squares regression(PLSR)model,and the optimal preprocessing was determined.Subsequently,the characteristic bands were extracted using the random forest(RF)algorithm.Finally,the performances of PLSR,convolutional neural network(CNN)and RACNN models were compared.The results showed that for GA,the RACNN model worked best with a validation set coefficient of determination(R2)of 0.946 and a root mean square error of the prediction set(RMSEP)of 1.173;for GC,the RACNN model works best with a validation set R2 of 0.928 and RMSEP of 6.081;for EGC,the RACNN model works best with a validation set R2 of 0.891 and a RMSEP of 15.197;for ECG,the RACNN model worked best with a validation set R2 of 0.878 and a RMSEP of 7.837.The RACNN model established by Vis-NIR spectroscopy combined with chemometrics could realize the accurate detection of the contents of components in fresh tea.

The Masquelet technique, also known as the induced membrane technique, is a surgical technique for repairing large bone defects based on the use of a membrane generated by a foreign body reaction for bone grafting. This technique is not only simple to perform, with few complications and quick recovery, but also has excellent clinical results. To better understand the mechanisms by which this technique promotes bone defect repair and the factors that require special attention in practice, we examined and summarized the relevant research advances in this technique by searching, reading, and analysing the literature. Literature show that the Masquelet technique may promote the repair of bone defects through the physical septum and molecular barrier, vascular network, enrichment of mesenchymal stem cells, and high expression of bone-related growth factors, and the repair process is affected by the properties of spacers, the timing of bone graft, mechanical environment, intramembrane filling materials, artificial membrane, and pharmaceutical/biological agents/physical stimulation.
Humans ; Bone Transplantation/methods* ; Membranes, Artificial ; Bone Regeneration ; Animals

Objective:To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics.Methods:A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing. This study was approved by the Medical Ethics Committee of Xuzhou Maternity and Child Health Care Hospital (Ethics No.XZFY2024-051K-01J).Results:A total of 691 712 neonates were screened for UCDs using MS/MS, which identified 1 237, 1 237, 510, and 1 009 initial positive cases for OTCD, CPS1D, ASSD, and ARGD, respectively. After genetic testing, 1 case of OTCD, 1 case of CPS1D, 1 case of ASSD, and 7 cases of ARGD were confirmed. The overall positive predictive value for these four UCDs was 0.362%. Among the 10 diagnosed UCD cases, four novel variants were identified, which included OTC: c. 1024C>A (p.L342M) and ASS1: c. 826A>G (p.M276V), c.695C>T (p.P232L) and c. 694C>T (p.P232S). Bioinformatic analysis has rated these as variants of uncertain clinical significance or likely pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:The incidence of four UCDs in neonates from the Xuzhou area is relatively low, and there is a correlation between genetic variants and clinical phenotypes. For novel variants with uncertain clinical significance or suspected pathogenicity, their pathogenicity should be clarified in conjunction with clinical and biochemical indicators. The four novel pathogenic variants of UCDs identified in this study have enriched the mutational spectrum of UCDs-associated genes in the Xuzhou region.

Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.

Objective:To investigate the radiographic changes of calcification of transverse atlantal ligament by clinical case study and improve the understanding of it.Methods:A retrospective analysis was performed to identify the clinical cases of transverse atlantebral ligament calcification. Eleven cases in the orthopedic department of our hospital from January 2015 to December 2022 were identifiled.Results:In this study, a total of 11 patients with calcification of atlas transverse ligament, which showed crowned dens sign (CDSig). Five patients were males and 6 were females, with an average age of 79.9 years (70~89 years). The average follow-up time was 44.7 months (14~89 months), 7 cases had no significant change in calcification, and 4 patients had aggravated calcification. These 11 patients accounted for 28 clinical visits in total, with the primary reasons for consultation as follows: 7 visits were related to cerebrovascular diseases, 6 visits were due to respiratory diseases, 5 visits were for surgical conditions. None of the patients reported a history of "acute neck pain".Conclusion:When patients with CDSig are complicated by acute neck pain, crowned dens syndrome should be considered on the basis of exclusion of malignant diseases such as meningitis. Calcification of the transverse atlanto-vertebral ligament is closely related to age, and calcification develops slowly, and may become worse with age.

Objective:To evaluate the clinical efficacy of a novel reduction device in the treatment of A3N0/1 thoracolumbar fracture using navigation-assisted techniques.Methods:A retrospective analysis was conducted on 45 patients (29 males, 16 females; mean age 40.67±16.11 years, range 24-57) with thoracolumbar fractures who underwent fracture reduction and pedicle screw fixation via the Wiltse approach at Zhengzhou Orthopaedic Hospital between January 2022 and January 2023. Injury levels included: T 10 in 2 cases, T 11 in 5 cases, T 12 in 13 cases, L 1 in 20 cases, L 2 in 3 cases, L 3 in 2 cases. All patients underwent fracture reduction via the Wiltse approach using the spinal fracture reduction instrument for vertebral body reduction. Among them, 20 patients received O-arm navigation-assisted internal fixation and vertebral reduction (O-arm group), while 25 received C-arm fluoroscopy-guided internal fixation and vertebral reduction (C-arm group). Operative time, intraoperative blood loss, vertebral reduction time using the instrument, first-time screw placement success rate, screw placement accuracy, and complications were compared. Mid-vertebral body height ratio (MVBHr), local Cobb angle of the fractured vertebra, visual analogue scale (VAS) score, and Oswestry disability index (ODI) were compared preoperatively, at 1 week postoperatively, 3 months postoperatively, and final follow-up. Results:All surgeries were successfully completed in both groups. Operative time was significantly shorter in the O-arm group (106.8±14.4 min) than in the C-arm group (119.1±16.4 min, P<0.05). All patients were followed up for a mean duration of 15.9±3.9 months (range 12-20 months). Vertebral reduction time was significantly shorter in the O-arm group (11.0±2.2 min) than in the C-arm group (20.4±5.7 min, P<0.05). The first-time screw placement success rate was significantly higher in the O-arm group (100%) than in the C-arm group (95.3%, P<0.05). Screw placement accuracy (Grade I) was significantly higher in the O-arm group (117 screws, 97.5%) than in the C-arm group (136 screws, 90.7%, P<0.05). No cases of wrong-level surgery, infection, or spinal cord/nerve injury occurred. Both groups showed significant improvements in MVBHr, Cobb angle, VAS, and ODI at all postoperative time points compared to preoperative values ( P<0.05). At final follow-up, the O-arm group demonstrated significantly better outcomes than the C-arm group in MVBHr (90.6%±4.5% vs. 86.4%±6.9%, P<0.05), Cobb angle (7.6°±1.8° vs. 10.1°±3.2°, P<0.05), VAS (1.3±0.4 vs. 1.7±0.6, P<0.05), and ODI (4.6%±1.9% vs. 7.7%±2.0%, P<0.01). Conclusion:O-arm navigation-assisted intrasegmental push reduction for A3N0/1 type thoracolumbar fractures demonstrates advantages including faster and more accurate screw placement, precise reduction with improved outcomes, and significant postoperative pain relief.

To evaluate the analytical performance of a specific IgE (sIgE) quantitative detection system and explore the clinical application effect of dust mite extract and component detection. The fluorescent magnetic particle chemiluminescence method was used to verify the analytical performance of sIgE for house dust mite (D1), dust mite (D2) extracts, and their components (Der p 1, Der p 2, Der p 10, and Der p 23), including precision, limit of blank (LoB), limit of detection (LoD), linear range, and interfering factors. This is a retrospective cohort study. A total of 50 patients with allergic rhinitis and 50 patients with allergic asthma diagnosed at Zhongshan Hospital Affiliated to Fudan University from January 2022 to August 2023 were selected, along with 70 apparently healthy individuals who underwent physical examinations in the hospital as the healthy control group. The positive rates of each sIgE component in the three groups were compared, and the receiver operating characteristic (ROC) curve for diagnosing dust mite allergy was plotted. The results showed that the fluorescent magnetic particle chemiluminescence method for detecting sIgE demonstrated good repeatability and intermediate precision within the range of 0.1-100 kU/L. The LoB, LoD, and linear range all met the specified requirements. Except for Der p 10, which was interfered by the presence of conjugated bilirubin and free bilirubin (exceeding 40 mg/dl), the detection of other allergens was not significantly affected by common endogenous substances. In healthy individuals, 10% had positive sIgE for dustmite extract; in asthmatic and allergic rhinitis patients, the positive rates were 70% and 82%, respectively. The double positive rate of D1 and D2 in the healthy group was 8.6%, while in asthmatic and allergic rhinitis patients, it was 66% and 70%, respectively. When 0.35 kU/L was used as the threshold, the sensitivity of sIgE for dust mite extract to predict component positivity was 100%, specificity was 61.5%, positive predictive value (PPV) was 80.2%, and negative predictive value (NPV) was 100%. When the threshold was optimized to 0.78 kU/L, the sensitivity was 96.8%, specificity was 92.1%, PPV was 95.2%, and NPV was 94.6%. In conclusion, the repeatability, intermediate precision, LoB, LoD, linear range, and anti-interference ability of the fluorescent magnetic particle chemiluminescence method for detecting sIgE meet the requirements of laboratory quality management. This ensures detection quality, meets clinical needs, and can be used for the auxiliary diagnosis of allergic diseases.

Although no cross protection was observed between different serotypes of foot-and-mouth disease virus(FMDV),there were cross-reactivity between different serotypes of antibodies produced after vaccination,the aim of this paper was to prepare the neutralizing monoclonal anti-body against Foot-and-mouth disease virus(FMDV)serotype O,and to develop the method to dis-tinguish antibody against FMDV serotype O and A based on mAb.The inactivated FMDV serotype O was used as antigen in mAb production,a series of GST fusion overlapping peptides and trun-cated peptides expressed in Escherichia coli were used to identify antigenic epitope recognized by monoclonal antibodies.In order to verify feasibility of the screened monoclonal antibodies in diag-nosis,20 positive serum of FMDV serotype O and A,20 negative serum with known background were detected by blocking ELISA.Results were as follows:five monoclonal antibodies were suc-cessfully screened.The five monoclonal antibodies showed good reactivity with FMDV serotype O,but did not react with FMDV serotype A by Western blot and IFA,these mAbs showed neutrali-zing ability to FMDV/O/MY98/GZBY/2013 by VNT.The same epitope was identified by five monoclonal antibodies,the minimum epitope was145 RGDLQVLA152,Arg145 and Gln149 were key a-mino acids of the epitope.Sequence alignment analysis revealed that the identified epitopes were conserved among most of O type FMDV strains,but Gln149 was mutated among all A,Asia 1 and SAT1-3 type FMDV strains.The mAb-8C5D3 distinguished between antibody of FMDV serotype O and FMDV serotype A by blocking ELISA.The results provided materials for development of O type FMDV antibody detection kit and evaluation of vaccine immune effect.