Severe complications and management of a patient with myasthenia gravis undergoing anterior cervical spinal surgery: a case report.

Surgical management of patients with comorbid long-term myasthenia gravis (MG) is particularly challenging and MG thus represents an independent risk factor for perioperative complications. However, few studies have reported on the perioperative assessment, prevention measures, and risks in MG patients undergoing major surgery, especially for anterior cervical spine surgery. We herein report the rare case of a 62-year-old man with a 20-year history of MG, who was admitted to our hospital with diagnosis of degenerative cervical spondylosis. He safely underwent anterior cervical corpectomy of C4, discectomy of C5-6, and fusion of C3-6. Intraoperative motor evoked potential was recorded to detect significant improvement after decompression. However, the patient suffered from progressive dysphagia, bucking, and hyperpyrexia 20 days after the initial operation. Imaging revealed titanium cage sliding and graft dislodgement. Secondary surgery was performed for posterior internal fixation from C2-7 and anterior revision from C3-6 after Halo-Vest traction, antibiotic treatment, and immunoglobulin therapy. He underwent a series of postoperative treatments, including cervicothoracolumbosacral orthosis, atomization inhalation, chest physiotherapy, antibiotics, and nutritional support. His condition improved markedly and he had no recurrence of symptoms during the 6-month follow-up. It is the rare reported case of anterior cervical spinal surgery in a patient with MG. This rare case indicates a relative contraindication to anterior-only approaches especially with multiple levels for MG patients with cervical spondylosis. Posterior approach, intraoperative monitoring, osteoporosis, postoperative strong brace protection, and supportive management should be considered for patients who were on large doses of steroids for long duration of time, given the lack of sufficient bone mineral density.

Delineation of dual molecular diagnosis in patients with skeletal deformity.

BACKGROUND: Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogenic disorders. More recently, complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal deformities and may complicate the diagnostic odyssey of patients. In this study, we report the molecular and phenotypic characteristics of patients with dual molecular diagnosis and variable skeletal deformities. RESULTS: From 1108 patients who underwent exome sequencing, we identified eight probands with dual molecular diagnosis and variable skeletal deformities. All eight patients had dual diagnosis consisting of two autosomal dominant diseases. A total of 16 variants in 12 genes were identified, 5 of which were of de novo origin. Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan Syndrome (FBN1, MIM:154700). CONCLUSIONS: This study demonstrated the complicated skeletal phenotypes associated with dual molecular diagnosis. Exome sequencing represents a powerful tool to detect such complex conditions.

A single-center 10-year retrospective study of clinical features and surgical treatment of spinal metastasis from cholangiocarcinoma.

BACKGROUND: This study intends to discuss the clinical features, therapeutic strategies, and patients' prognostic features and to share our expertise in handling this entity. Current research is one of Asia's extensive MSCCA clinical studies until now. METHODS: Four MSCCA patients who were operated in our hospital's bone tumor center from January 2010 to January 2020 were chosen. Our team reviewed a retrospective study of the medical history and records of surgery, imaging data, and pathology reports (both primary and metastatic spinal tumors) of all MSCCA patients. We applied two surgical therapies in this study, including open surgery and percutaneous vertebroplasty. A predetermined analysis of patients' original clinical data was performed, and regular followup was performed after the operation. RESULTS: Of the four patients, one was male and three were female. The age ranged from 60 to 70 years. The time duration between the diagnosis of cholangiocarcinoma (CCA) and the diagnosis of spinal metastases ranged from 0 to 11 months. Spinal metastatic disease was mainly located in the thoracic spine (n=4; 100%), followed by the cervical spine (n=1; 25.0%). Postoperatively, in the four patients, the symptoms improved and the VAS score was decreased. During the follow-up visit, the progression of the local spinal tumors at the site of primary spinal surgery was detected in three patients (75.0%). Three patients died from the disease during the follow-up period, and one patient is still alive. The time ranged from 6 to 13 months for spinal surgery to the patient's death. CONCLUSIONS: Taken together, the prognosis of patients with MSCCA is poor. Surgical treatment can dramatically improve patients' quality of life and helps to extend a patient's survival. In terms of surgical treatment, appropriate surgical treatment should be selected according to the general condition of the patient and the relevant characteristics of spinal metastases.

Analysis of genomics and immune infiltration patterns of epithelial-mesenchymal transition related to metastatic breast cancer to bone.

OBJECTIVE: This study aimed to design a weighted co-expression network and a breast cancer (BC) prognosis evaluation system using a specific whole-genome expression profile combined with epithelial-mesenchymal transition (EMT)-related genes; thus, providing the basis and reference for assessing the prognosis risk of spreading of metastatic breast cancer (MBC) to the bone. METHODS: Four gene expression datasets of a large number of samples from GEO were downloaded and combined with the dbEMT database to screen out EMT differentially expressed genes (DEGs). Using the GSE20685 dataset as a training set, we designed a weighted co-expression network for EMT DEGs, and the hub genes most relevant to metastasis were selected. We chose eight hub genes to build prognostic assessment models to estimate the 3-, 5-, and 10-year survival rates. We evaluated the models' independent predictive abilities using univariable and multivariable Cox regression analyses. Two GEO datasets related to bone metastases from BC were downloaded and used to perform differential genetic analysis. We used CIBERSORT to distinguish 22 immune cell types based on tumor transcripts. RESULTS: Differential expression analysis showed a total of 304 DEGs, which were mainly related to proteoglycans in cancer, and the PI3K/Akt and the TGF-ß signaling pathways, as well as mesenchyme development, focal adhesion, and cytokine binding functionally. The 50 hub genes were selected, and a survival-related linear risk assessment model consisting of eight genes (FERMT2, ITGA5, ITGB1, MCAM, CEMIP, HGF, TGFBR1, F2RL2) was constructed. The survival rate of patients in the high-risk group (HRG) was substantially lower than that of the low-risk group (LRG), and the 3-, 5-, and 10-year AUCs were 0.68, 0.687, and 0.672, respectively. In addition, we explored the DEGs of BC bone metastasis, and BMP2, BMPR2, and GREM1 were differentially expressed in both data sets. In GSE20685, memory B cells, resting memory T cell CD4 cells, T regulatory cells (Tregs), γδ T cells, monocytes, M0 macrophages, M2 macrophages, resting dendritic cells (DCs), resting mast cells, and neutrophils exhibited substantially different distribution between HRG and LRG. In GSE45255, there was a considerable difference in abundance of activated NK cells, monocytes, M0 macrophages, M2 macrophages, resting DCs, and neutrophils in HRG and LRG. CONCLUSIONS: Based on the weighted co-expression network for breast-cancer-metastasis-related DEGs, we screened hub genes to explore a prognostic model and the immune infiltration patterns of MBC. The results of this study provided a factual basis to bioinformatically explore the molecular mechanisms of the spread of MBC to the bone and the possibility of predicting the survival of patients.

A Single-Center, 10-Year Retrospective Study on Surgical Treatment and Prognosis Analysis of Differentiated Thyroid Carcinoma with Spinal Metastasis.

OBJECTIVE: Metastatic spinal differentiated thyroid carcinoma (MSDTC) is relatively rare in the clinic and often overlooked. The objective of the current study is to analyze the clinical characteristics and prognosis of patients with MSDTC who underwent surgical treatment to determine the prognostic factors that affect survival. METHODS: This study retrospectively analyzed the clinical data and postoperative follow-up results of MSDTC patients who underwent spinal surgery at the Orthopedic Department of Peking Union Medical College Hospital from January 2010 to January 2020. Clinical data and survival time were analyzed by Kaplan-Meier analysis. RESULTS: Eleven patients were included, and the average age was 58.3 years (range 37‒74). The average time from the initial surgery to the discovery of spinal metastasis was 42.9 months (range 0‒132), and the average follow-up time was 21.8 months (range 3‒80). Progression was identified in seven patients, and 10 patients (90.9%) died during the follow-up period. Kaplan-Meier analysis showed that extraosseous visceral metastasis (p=0.012), revised Tokuhashi score (p=0.035), Tomita score (p=0.038), and surgical method (p=0.028) were associated with overall survival (OS). In addition, skeletal visceral metastasis (p=0.017), revised Tokuhashi score (p=0.028), Tomita score (p=0.038), and surgical method (p=0.049) were associated with progression-free survival (PFS). CONCLUSION: Surgical treatment is an effective method for treating MSDTC and leads to pain relief, restored function and increased spinal stability. Based on our single-center experience, extraosseous visceral metastasis, revised Tokuhashi score, Tomita score, and surgical methods may be potential prognostic factors for OS whilst visceral metastasis, revised Tokuhashi score, Tomita score, and surgical methods may be potential prognostic factors for PFS.