With the aging population, the increasing incidence of adult spinal deformity (ASD) associated with osteoporosis (OP) presents new challenges for evaluation and management. Although reasonable and standardized non-surgical treatment remains the first choice in the early stages of this disease, surgical treatment is necessary for patients with severe deformities and significant symptoms to achieve further improvement. Proximal junctional kyphosis/failure (PJK/PJF) is one of the most serious postoperative complications of ASD. Careful and comprehensive preoperative evaluation of bone quality and body sagittal alignment is crucial for the successful implementation of the operation. The Hounsfield unit (HU) based on CT imaging and the vertebral bone quality (VBQ) score based on MRI have proven to be reliable, effective, simple, and widely used in evaluating local vertebral bone quality in recent years. For the evaluation and prediction of PJF after ASD, the bone quality of the upper instrumented vertebra (UIV) can be assessed using HU values to identify high-risk patients and implement preventive measures. The VBQ score is predictive of the incidence of PJK/PJF in patients undergoing ASD surgery, with a high VBQ score being one of the risk factors for PJK/PJF after ASD correction. Patients with high VBQ scores can delay surgery and use anti-osteoporosis drugs before surgery to reduce the occurrence of PJK/PJF. Meanwhile, reasonable and personalized recovery parameters of ASD patients' sagittal sequence can help balance the benefits of efficacy and complications, maximizing the overall benefits. The prevention of PJK/PJF is challenging due to the stress gap between the internal fixation area and the original unfixed tissue area in the postoperative proximal junctional area, which is increasingly significant in OP patients. It is necessary to improve the fixation strength and bone riveting strength of the proximal junction area properly and to gradually decrease the fixed strength in the proximal junctional area to achieve a smooth transition of stress and avoid stress concentration resulting in failure. Relevant strategies include: 1. Enhanced proximal junction fixation, such as vertebral cement-enhanced pedicle screw fixation. 2. Strategies to cushion the stress in the proximal junction, such as Topping-off technology, which includes laminar/transverse hooks, dynamic rods, multi-segment stabilization screws, and multiple ligament-binding straps. 3. Minimally invasive technology can better protect the soft tissues such as the posterior ligament complex and muscles, reduce iatrogenic injury, and thus reduce the incidence of PJK/PJF. Currently, there are many controversies about the optimal treatment for ASD with OP, but the goal is to achieve maximum efficacy while minimizing complications. Additionally, attention should be paid to reasonable and standard anti-osteoporosis treatment in the perioperative period. This paper summarizes the relevant studies used to evaluate PJK/PJF after ASD in patients with OP and reviews the research progress on PJK/PJF prevention strategies, providing reference and ideas for reducing postoperative proximal junctional complications in adult spinal deformity patients with osteoporosis.

Objective:To summarize the clinical, pathological and molecular characteristics of various types of pediatric glioma, and to explore the differences in the morphology and clinical significance among various types of pediatric glioma.Methods:Based on the fifth edition of the World Health Organization classification of central nervous system tumors, this study classified or reclassified 111 pediatric gliomas that were diagnosed at Guangzhou Medical University Affiliated Women and Children′s Medical Center from January 2020 to June 2023. The clinical manifestations, imaging findings, histopathology, and molecular characteristics of these tumors were analyzed. Relevant literature was also reviewed.Results:The 111 patients with pediatric glioma included 56 males and 55 females, with the age ranging from 10 days to 13 years (average age, 5.5 years). Clinically, manifestations presented from 5 days to 8 years before the diagnosis, including epilepsy in 16 cases, increased intracranial pressure in 48 cases and neurological impairment in 66 cases. MRI examinations revealed tumor locations as supratentorial in 43 cases, infratentorial in 65 cases, and spinal cord in 3 cases. There were 73 cases presented with a solid mass and 38 cases with cystic-solid lesions. The largest tumor diameter ranged from 1.4 to 10.6 cm. Among the 111 pediatric gliomas, there were 6 cases of pediatric diffuse low-grade glioma (pDLGG), 63 cases of circumscribed astrocytoma glioma (CAG), and 42 cases of pediatric diffuse high-grade glioma (pDHGG). Patients with pDLGG and CAG were younger than those with pDHGG. The incidence of pDLGG and CAG was significantly lower in the midline of the infratentorial region compared to that of pDHGG. They were more likely to be completely resected surgically. The pDLGG and CAG group included 4 cases of pleomorphic xanthoastrocytoma, showing histological features of high-grade gliomas. Among the high-grade gliomas, 13 cases were diffuse midline gliomas and also showed histological features of low-grade glioma. Immunohistochemical studies of H3K27M, H3K27ME3, p53, ATRX, BRAF V600E, and Ki-67 showed significant differences between the pDLGG and CAG group versus the pDHGG group ( P<0.01). Molecular testing revealed that common molecular variations in the pDLGG and CAG group were KIAA1549-BRAF fusion and BRAF V600E mutation, while the pDHGG group frequently exhibited mutations in HIST1H3B and H3F3A genes, 1q amplification, and TP53 gene mutations. With integrated molecular testing, 2 pathological diagnoses were revised, and the pathological subtypes of 35.3% (12/34) of the pediatric gliomas that could not be reliably classified by histology were successfully classified. Conclusions:There are significant differences in clinical manifestations, pathological characteristics, molecular variations, and prognosis between the pDLGG, CAG and pDHGG groups. The integrated diagnosis combining histology and molecular features is of great importance for the accurate diagnosis and treatment of pediatric gliomas.

Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Objective:To analyze the risk factors for residual pain after percutaneous kyphoplasty (PKP) for osteoporotic vertebral fractures (OVF).Methods:Retrospectively analyzed were the patients with OVC who had been treated at Department of Orthopaedic Surgery, The First Affiliated Hospital of Soochow University by single level PKP from January 2020 to December 2021. They were 40 men and 181 women, with an age of (69.6±8.2) years. By the pain score of visual analogue scale (VAS) on the postoperative day 3, they were assigned into 2 groups: a residual pain group (VAS≥4) and a control group (VAS<4). The general demographics, radiographic and surgical related data of the 2 groups were analyzed by single factor analysis, including their gender, age, bone mineral density, body mass index, glucocorticoid usage, follow-up time, duration of symptoms, fracture location, severity of fracture compression, intravertebral cleft, middle column involvement, thoracolumbar fascia injury, anesthesia method, puncture method, volume of bone cement injected, cement-endplates contact, pattern of cement distribution, cement leakage, vertebral height restoration, preoperative cobb angle and correction of cobb angle. The P<0.1 factors screened were further analyzed by the multivariate logistic regression to determine the final variables. Results:In the present study, 19 patients were assigned into the residual pain group and 202 patients the control group. The univariate analysis showed that body mass index ( P=0.059), intravertebral cleft ( P=0.049) and thoracolumbar fascia injury ( P< 0.001) increased the risk for residual pain. The multivariate logistic regression analysis showed that thora-columbar fascia injury was an independent risk factor for residual pain ( OR=6.127, 95% CI: 2.240 to 16.755, P<0.001). Conclusion:Thoracolumbar fascia injury is an independent risk factor for residual pain after PKP for OVF.

This article reported a case of kaposiform lymphangiomatosis (KLA) identified in the fetal stage and diagnosed at the neonatal stage. A routine ultrasound examination at 19 weeks of gestation showed multiple masses in the whole body of the fetus (involving neck, chest wall and armpit) complicated by pleural and peritoneal effusion. Shunting was performed to drain pleural effusion from the right chest in another hospital at 26 +5 weeks of gestation. The patient was born at 34 +3 weeks of gestation by cesarean section due to "intrauterine distress" and required invasive ventilator assisted ventilation support after birth because of respiratory distress. A large amount of hemorrhagic effusion was drained out during the shunting. Coagulation dysfunction and thrombocytopenia occurred on the 3rd day after birth and KLA was suspected. Empirical treatment with sirolimus turned out to be ineffective. Biopsy was taken on postnatal day 7. However, the patient died on the 12th day after birth due to respiratory and circulatory failure. Pathological findings obtained the day after death were consistent with the features of KLA. The diagnosis of KLA was confirmed based on the clinical manifestations and pathological results.

Objective:To investigate the clinicopathological features of hepatic vascular tumors in children. Methods The clinical characteristics, histology and immunohistochemical staining results were summarized and analyzed in 22 cases of hepatic vascular tumors in children at Guangzhou Women and Children′s Medical Center from September 2007 to November 2020. Results:The 22 patients aged from 1.0 month to 2.5 years (mean age 9 months). There were 10 males and 12 females. Five cases were found in premature and had low birth weight infants; three cases were discovered in the antenatal period; one patient also had cutanous hemangioma; six patients had associated anemia; Kasabach-Merritt phenomenon was not seen in any patient. CT examination showed 17 tumors were solitary and five were multifocal lesions. Macroscopically, the tumors size ranged from was 0.6 cm to 11.0 cm; the cut surface was solid, gray red and brown in color, and in six cases there were hemorrhage and necrosis in the central area. Microscopically,15 cases of solitary congenital hepatic hemangiomas showed characteristic necrosis in the central area, with loose fibrous tissues at periphery. Proliferation of capillaries, residual bile ducts between the vascular lumens, and dilated thrombosed vascular channels were seen, and contained extramedullary hematopoietic foci and calcification. Five cases of multiple hepatic infantile hemangiomas showed capillaries of different sizes composing of plump endothelium and pericytes and were arranged in lobular or diffuse patterns. Two cases of cavernous hemangioma (venous malformation) consisted of dilated thin-walled blood vessels with branch-like pattern lined with flat endothelial cells. Immunohistochemically, all 22 case expressed vascular endothelial markers CD31 and CD34, but D2-40 was negative. Glut1 was positive in five cases of multiple hepatic infantile hemangiomas, and the other cases were negative.Conclusion:Hepatic vascular tumors in children are rare, and their classification is different from that of adults. It is of great significance to make clear pathologic diagnosis.

Objective:To investigate the clinicopathological features of gonadal neoplastic related lesions in children with disorders of sexual development (DsD).Methods:The clinical manifestations, chromosomal karyotype, histology and immunophenotype of 12 cases of neoplastic related lesions from Guangzhou Women and Children′s Medical Center, Guangzhou were analyzed during Jan 2015 to May 2020.Results:Twelve cases of neoplastic related lesions were screened in 205 cases of DsD, and 6 patients with gonadal germ cell neoplasia aged 3-13 years with an average age of 8.3 years. There were 2 males and 4 females. Clinical features showed malformation of external genitalia in 2 cases, short stature in 2 cases, clitoral enlargement in 1 case, lower abdominal pain and a huge pelvic mass in 1 case. Chromosomal karyotyping of peripheral blood showed 2 cases of 46XY and 4 cases of 45X/46XY. Fourteen gonadal specimens were examined. Microscopically, 1 case showed dysgerminoma in left ovary, and malignant mixed germ cell tumors in right ovary, as well as gonadoblastoma (GB) and undifferentiated gonadal tissue (UGT). The remaining 5 cases were all precursor lesions of germ cell tumor. Six specimens showed GB, 3 of UGT, and 3 specimens showed germ cell neoplasia in situ (GCNIS), one of which was accompanied by intratubular seminoma and 1 was GB with GCNIS. The other 6 patients with DsD were aged from 8 months to 2 years and 5 months, including 5 males and 1 females. Clinical manifestations showed 5 cases of hypospadias and 1 case of bilateral indirect inguinal hernia. Microscopically, 6 cases showed maturation delay of gonocytes in seminiferous tubules. Immunohistochemically, the primordial germ cells/gonocytes expressed OCT3/4, PLAP and c-KIT in the 12 cases.Conclusion:Gonadal neoplasia in children with DsD is mainly precursor lesions of germ cell tumor and improved understanding of these lesions is of great significance.

Coronavirus disease 2019 (COVID-19) outbreak started in December 2019 that caused difficulties for clinical work. Practical work experience in our spinal outpatient and emergency department during the COVID-19 pandemic is summarized in this article, with combined evidence-based medical evidence to explore a standardized process of diagnosis and treatment for spinal diseases. Outpatient reservation, continuous screening, triage, and isolation, first consultation accountability system, pandemic reporting system, and online revisit were strictly followed. We hope that our experience in prevention and control of COVID-19 can help spine surgeons globally in stopping the spread of COVID-19. Spine surgeons should collaborate with infection control specialists to avoid cross-infection in hospitals and optimize treatment.

Objective To explore the application value of chromosomal microarray analysis(CMA)technolo-gy in children with abnormal development at the endocrine clinic,and to summarize the data of diagnosis and treatment. Methods A retrospective analysis of 15 children with abnormal development was performed at the endocrinology clinic of Guangzhou Women and Childrenˊs Medical Center from January 2015 to December 2017. The whole genome CMA was applied according to the standard operation procedure of CytoScan 750 arrays of Affymetrix,USA. The results were analyzed by chromosome analysis suite( CHAS)software and related bioinformatics methods. Results The report on CMA showed that the genomes of 15 children had the pathogenic copy number variation(CNVs)or variants of uncer-tain significance. The chromosomal abnormalities were consistent with the clinical manifestations of all children. There were deletions in 14 cases and duplications in 3 cases. Among the 15 cases,loss of heterozygosity was found in 2 cases, uniparental disomy in 1 case,trisomy in 2 cases,Turner syndrome in 2 cases,Smith-Magenis syndrome in 1 case,and wolf Hirschhorn syndrome in 1 case. Only 2 of 15 children were diagnosed as chromosomal abnormalities by routine kar-yotype analysis. Conclusions The whole genome high resolution CMA can significantly improve the rate of diagnosis in children with abnormal development at endocrinology clinic,and is worthy of recommendation.

Objective: To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children. Methods: Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children′s Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed. Results: The age of patients ranged from 7 months to 17 years with an average of (50.7 ± 47.1) months. Social genders of the patients included 32 males and 21 females. Forty-eight patients had abnormal sex hormone levels. Clinical presentations included: toward female genitalia in 25 cases, male genitalia tendency in 17 cases and ambiguous external genitalia in 11 cases. Hypospadias was seen in 31 cases and short stature was seen in 8 cases. Chromosomal karyotyping of peripheral blood revealed 23 cases of sex chromosome disorders, 22 cases of 46 XY disorders, of which 3 cases were 5α-reductase deficiency and 8 cases of 46 XX disorders. Ultrasound examination showed cryptorchidism in 30 cases, including 16 cases of unilateral, 14 cases of bilateral and 1 case presenting a huge pelvic tumor. A total of 97 gonadal tissues from 53 cases of DSD were examined, including 9 cases of unilateral and 44 cases of bilateral gonads. Microscopically, 55 gonads (56.7%) showed dysplastic testes including 17 unilateral and 19 bilateral gonads. Fourteen were streak gonads (14.4%) including 8 unilateral and 3 bilateral gonadal tissues. Nine streak gonad with epithelial cord-like structures (9.3%) were found, of which 5 were unilateral and 2 were bilateral lesions. Seven gonads were ovotestis (7.2%), unilateral in 5 cases (the other side of the gonads of ovary in 4 cases, 1 case of dysplastic testes) and bilateral in 1 case. Seven gonads showed follicular-rich ovarian tissue (7.2%). One case showed bilateral dysplastic testes with gonadoblastoma and ectopic adrenal cortex. One case of streak gonad showed epithelial cord-like structures and undifferentiated glandular tissue embedded in malignant mixed germ cell tumors (mixed gonadoblastoma, dysgerminoma, mature teratoma and yolk sac tumor). One case had testicular microlithiasis. Uterus and fallopian tube structures were found in 11 cases. Immunohistochemical stains were performed in 15 cases. D2-40, PLAP and CKIT were expressed in germ cells and Calretinin, WT1 and inhibin were positive in Setoli cells. SALL4 and OCT3/4 were positive in 3 cases. Inhibin highlighted interstitial Leydig cells in 2 cases. GPC3 was positive in yolk sac tumor component. Conclusions Gonadal dysgenesis presents a broad spectrum of gonadal phenotypes with variable degrees of differentiation. The development of bilateral gonadal tissues has certain variability. Chromosomal karyotypes have no correlation with gonadal phenotypes. Accurate histopathologic diagnosis of gonadal dysgenesis plays an important role in the treatment and prognosis of the patient.