OBJECTIVE: To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

PURPOSE: To screen laboratory markers with predictive value in early spinal surgical site infections (SSI) that are diagnosed within 30 days postoperatively. METHODS: Patients who underwent surgical treatment for internal spinal fixation between March 2022 and March 2023 in our hospital were retrospectively studied. The inclusion criteria were aged >18 years, undergoing internal fixation surgery, complete medical records with >30 days of postoperative follow-up, diagnosis was made within 30 days postoperatively, and an informed consent form was obtained. The exclusion criteria were abnormal white blood cell count or neutrophil percentage in the preoperative blood routine and combined diseases that may affect the C-reactive protein (CRP) or procalcitonin (PCT) values, including lower respiratory tract infection, renal insufficiency, and liver disease. We collected patients' personal information, surgical information, and blood laboratory data, including CRP, PCT, lymphocyte-neutrophil ratio, platelet-neutrophil ratio, and routine blood tests on preoperative and postoperative days 3, 5, and 7, from these patients. These data were statistically analyzed to determine which laboratory markers were statistically significant. The diagnostic value and optimal diagnostic threshold of these laboratory markers were further determined by receiver operating characteristic curve analysis. RESULTS: A total of 106 patients were enrolled in this study, of whom 8 patients were diagnosed with early SSI. A total of 4 laboratory markers were screened, namely, CRP on postoperative day 7 (optimal diagnostic threshold of ≥64.1 mg/L, sensitivity of 100%, specificity of 76.5%, area under the curve (AUC) of 0.908), PCT on postoperative day 7 (optimal diagnostic threshold of ≥0.2 ng/mL, sensitivity of 87.5%, specificity of 94.1%, AUC of 0.967), lymphocyte count on postoperative day 5 (optimal diagnostic threshold of ≤0.67 × 10⁹/L, sensitivity of 50%, specificity of 95.9%, AUC of 0.760), and lymphocyte count on postoperative day 7 (optimal diagnostic threshold of ≤1.32 × 10⁹/L, sensitivity of 87.5%, specificity of 55.1%, AUC of 0.721). CONCLUSION We concluded that CRP and PCT levels on postoperative day 7 and lymphocyte counts on postoperative days 5 and 7 are useful markers in screening for early spinal SSI.
Humans ; Retrospective Studies ; Male ; Female ; Biomarkers/blood* ; Middle Aged ; C-Reactive Protein/analysis* ; Surgical Wound Infection/blood* ; Procalcitonin/blood* ; Adult ; Aged ; Postoperative Period ; ROC Curve ; Predictive Value of Tests ; Spine/surgery*

OBJECTIVE: To explore the clinical significance of preoperative neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), and C-reactive protein (CRP) to albumin (ALB) ratio in spinal surgery patients with postoperative incision infection. METHODS: A total of 373 patients who underwent spinal surgery were collected and devided into two groups according to the postoperative incision infection situation. Among them, 65 cases in the incision infection group included 34 males and 31 females with a mean age of (56.01±9.78) years old;308 cases in the non incision infection group included 157 males and 151 females with a mean age of (55.54±10.19) years old. Blood cell analyzer was applied to detect neutrophils, lymphocytes, and platelets, and calculate NLR and PLR;immunoturbidimetry was applied to measure serum CRP and ALB levels and calculate CRP/ALB ratio;receiver operating characteristic (ROC) curve was applied to analyze the predictive value of preoperative NLR, PLR, and CRP/ALB ratio for postoperative spinal incision infection;Logistic multivariate regression was applied to analyze the influencing factors of incision infection after spinal surgery. RESULTS: The NLR(4.92±1.13), PLR (119.32±22.74), CRP/ALB ratio (10.19±2.51), operation time (3.02±0.64) h, history of diabetes 38.46%(25/65), and the proportion of patients with implant 32.31%(21/65) in the incision infection group were higher than those in the non incision infection group 3.72±0.81, 90.58±20.16, 7.23±2.21, (2.26±0.51) h, 16.88%(53/308), 11.69%(36/308), there were statistical differences(P<0.05). The AUC of preoperative NLR, PLR, and CRP/ALB ratio alone and in combination for predicting postoperative incision infection after spinal surgery was 0.786, 0.806, 0.839, and 0.926, respectively. Preoperative NLR, PLR, and CRP/ALB ratio were independent risk factors for postoperative incision infection in spinal surgery(P<0.05). CONCLUSION The determination of preoperative NLR, PLR, and CRP/ALB ratio is beneficial for early prediction of postoperative spinal incision infection, and the combined detection of the three can further improve the accuracy of the prediction results.
Humans ; Male ; Female ; Middle Aged ; Aged ; C-Reactive Protein/metabolism* ; Surgical Wound Infection/etiology* ; Adult ; Spine/surgery* ; Inflammation ; Preoperative Period

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity in adolescents, with potential causes etiologies associated with mesenchymal stem cells, genetic factors, histological features, and biomechanical aspects. Biomechanically, the pelvis, serving as the central and majort load-bearing structure, exhibits morphological and alignment abnormalities highly correlated with the development of AIS. Recent studies have extensively explored three-dimensional pelvic parameters and kinematics, demonstrating that abnormal pelvic characteristics may contribute to AIS onset and progression and are increasingly incorporated into clinical interventions. This review summarizes sagittal and coronal features of the spine-pelvis, as well as the influence of three-dimensional kinematic features on the pathogenesis of AIS, providing insights for advancing the study of spine-pelvis features related to AIS.
Humans ; Scoliosis/pathology* ; Adolescent ; Spine/pathology* ; Pelvis/pathology* ; Biomechanical Phenomena

Humans ; Spine ; Endoscopy/adverse effects* ; Minimally Invasive Surgical Procedures ; Postoperative Complications ; Lumbar Vertebrae ; Treatment Outcome

Humans ; Thoracoscopy ; Spine/surgery* ; Neoplasms ; Thoracic Vertebrae/surgery*

The spine is the most common site of bone metastases from malignant tumors, with metastatic epidural spinal cord compression occurring in about 10% of patients with spinal metastases. Palliative radiotherapy and simple laminectomy and decompression have been the main treatments for metastatic spinal cord compression. The former is ineffective and delayed for radiation-insensitive tumors, and the latter often impairs spinal stability. With the continuous improvement of surgical techniques and instrumentation in recent years, the treatment model of spinal metastases has changed a lot. Decompression surgery underwent open decompression, separation surgery, minimally invasive surgery and laser interintermal thermal ablation decompression. However, no matter what kind of surgical plan is adopted, it should be assessed precisely according to the specific situation of the patient to minimize the risk of surgery as far as possible to ensure the smooth follow-up radiotherapy. This paper reviews the research progress of decompression for spinal metastases.
Humans ; Spinal Cord Compression/surgery* ; Spinal Neoplasms/secondary* ; Decompression, Surgical/methods* ; Spine/surgery* ; Retrospective Studies ; Treatment Outcome

OBJECTIVE: To improve the rat model of cervical spondylosis of vertebral artery type (CSA) induced by injecting sclerosing agent. To evaluate the efficacy of injecting sclerosing agent to induce CSA. METHODS: Forty Health SPF SD rats(20 males and 20 females), were randomly divided into two groups:the model group (20) and the blank group (20). All the animals were followed up for 4 weeks for the observation of general situation, transcranial Doppler(TCD) detection of blood flow velocity, pulsatility index and resistive index of the vertebral artery, measurement of mental distress by open-field test. RESULTS: One to two days after establish the animal model, rats in the model group appeared apathetic with decreased autonomic activities, trembling, squinting, increased eye excrement, etc., and no rats died during the experiment. The mean blood flow velocity of the model group was lower than that of the blank group (P<0.05), and the pulsatilit index and resistive index of the model group were higher than that of the blank group (P<0.05). The mental distress of the model group was significantly higher than that of the blank group. CONCLUSION The modified injection of sclerosing agent is a practical method to establish the rat model of CSA, with high success rate, high stability, low mortality and simple operation.
Male ; Animals ; Female ; Rats ; Sclerotherapy ; Sclerosing Solutions/therapeutic use* ; Rats, Sprague-Dawley ; Spondylosis/therapy* ; Spine ; Vertebral Artery

OBJECTIVE: To explore the effectiveness of a new point contact pedicle navigation template (referred to as "new navigation template" for simplicity) in assisting screw implantation in scoliosis correction surgery. METHODS: Twenty-five patients with scoliosis, who met the selection criteria between February 2020 and February 2023, were selected as the trial group. During the scoliosis correction surgery, the three-dimensional printed new navigation template was used to assist in screw implantation. Fifty patients who had undergone screw implantation with traditional free-hand implantation technique between February 2019 and February 2023 were matched according to the inclusion and exclusion criteria as the control group. There was no significant difference between the two groups ( P>0.05) in terms of gender, age, disease duration, Cobb angle on the coronal plane of the main curve, Cobb angle at the Bending position of the main curve, the position of the apical vertebrae of the main curve, and the number of vertebrae with the pedicle diameter lower than 50%/75% of the national average, and the number of patients whose apical vertebrae rotation exceeded 40°. The number of fused vertebrae, the number of pedicle screws, the time of pedicle screw implantation, implant bleeding, fluoroscopy frequency, and manual diversion frequency were compared between the two groups. The occurrence of implant complications was observed. Based on the X-ray films at 2 weeks after operation, the pedicle screw grading was recorded, the accuracy of the implant and the main curvature correction rate were calculated. RESULTS: Both groups successfully completed the surgeries. Among them, the trial group implanted 267 screws and fused 177 vertebrae; the control group implanted 523 screws and fused 358 vertebrae. There was no significant difference between the two groups ( P>0.05) in terms of the number of fused vertebrae, the number of pedicle screws, the pedicle screw grading and accuracy, and the main curvature correction rate. However, the time of pedicle screw implantation, implant bleeding, fluoroscopy frequency, and manual diversion frequency were significantly lower in trial group than in control group ( P<0.05). There was no complications related to screws implantation during or after operation in the two groups. CONCLUSION The new navigation template is suitable for all kinds of deformed vertebral lamina and articular process, which not only improves the accuracy of screw implantation, but also reduces the difficulty of operation, shortens the operation time, and reduces intraoperative bleeding.
Humans ; Orthopedic Procedures ; Pedicle Screws ; Retrospective Studies ; Scoliosis/surgery* ; Spinal Fusion/methods* ; Spine ; Surgery, Computer-Assisted/methods*

Humans ; Spine ; Medicine, Chinese Traditional