Pan-cancer and single-cell analysis of actin cytoskeleton genes related to disulfidptosis.

Disulfidptosis was recently reported to be caused by abnormal disulfide accumulation in cells with high SLC7A11 levels subjected to glucose starvation, suggesting that targeting disulfidptosis was a potential strategy for cancer treatment. We analyzed the relationships between gene expression and mutations and prognoses of patients. In addition, the correlation between gene expression and immune cell infiltration was explored. The potential regulatory mechanisms of these genes were assessed by investigating their related signaling pathways involved in cancer, their expression patterns, and their cellular localization. Most cancer types showed a negative correlation between the gene-set variation analysis (GSVA) scores and infiltration of B cells and neutrophils, and a positive correlation between GSVA scores and infiltration of natural killer T and induced regulatory T cells. Single-cell analysis revealed that ACTB, DSTN, and MYL6 were highly expressed in different bladder urothelial carcinoma subtypes, but MYH10 showed a low expression. Immunofluorescence staining showed that actin cytoskeleton proteins were mainly localized in the actin filaments and plasma membrane. Notably, IQGAP1 was localized in the cell junctions. In conclusion, this study provided an overview of disulfidptosis-related actin cytoskeleton genes in pan-cancer. These genes were associated with the survival of patients and might be involved in cancer-related pathways.

Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient: A case report.

BACKGROUND: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant genetic disorder. It is characterized by café-au-lait spots and cutaneous neurofibromas. Although NF-1 typically involves the skin, nerves, bones, and eyes, vascular manifestation in the form of devastating hemorrhage can occur rarely. CASE SUMMARY: We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation. She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission. The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area. Computed tomography angiography showed right lower limb arteriovenous malformation. Therefore, the patient underwent emergency right lower limb digital subtraction angiography (DSA) and vascular embolization after blood transfusions. However, after DSA, vascular embolization, and repeated blood transfusions, the anemia and right lower limb swelling and tenderness did not improve. As a result, the patient underwent right lower extremity above-knee amputation. After amputation, the patient's hemoglobin level improved significantly without blood transfusion, and she was discharged from the hospital after the incision healed. Postoperative pathological examination suggested neurogenic tumors. No other complications had occurred 1-year follow-up. CONCLUSION: Vascular malformation and rupture are fatal complications of NF-1. Embolization may not provide complete relief, the patient might need to undergo neurofibroma resection or amputation.

One-stage total hip arthroplasty for advanced hip tuberculosis combined with developmental dysplasia of the hip: A case report.

BACKGROUND: A patient with advanced tuberculosis of the hip joint combined with Crowe type IV developmental dysplasia of the hip (DDH) and a drainage sinus is a rare condition. There are no previous reports of this condition, and it is a complex challenge for surgeons to develop a treatment scheme. CASE SUMMARY: We report a 73-year-old male patient with severe hip pain and drainage sinus of the left hip for one month. Approximately 40 years ago, a drainage sinus occurred at the lateral left hip was healed at the local hospital with anti-infectious therapy. After the sinus healed, gradual pain occurred in the left hip for 40 years. Approximately one month prior, hip pain was sharply aggravated, and a drainage sinus reoccurred in the left hip. The X-ray and computed tomography examinations showed destruction of the head and neck of the left femur, as well as an acetabular deformity. The results of Mycobacterium tuberculosis antibody and Xpert were positive. Therefore, the patient was diagnosed with advanced TH combined with Crowe type IV DDH. After 22 d of treatment with anti-tuberculosis chemotherapy, the sinus healed, and the patient underwent one-stage total hip arthroplasty (THA) surgery consisting of debridement, osteotomy, and joint replacement. After surgery, the patient received anti-tuberculosis chemotherapy drugs for nine months, with no recurrent infection. After one year of follow-up, the Harris score of the patient increased from 21 pre-THA to 86. CONCLUSION: Although drainage sinuses are a contraindication to one-stage THA, one-stage THA is still an effective and safe surgical method after the sinus heals.