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Abstract Background Limb-girdle muscular dystrophy (LGMD) is a group of hereditary myopathies. This group of diseases is highly heterogeneous in terms of genetic mode, age at onset, and disease progression; therefore, they are easily misdiagnosed and missed in clinical practice. Case presentation We describe a case of adult late-onset LGMD R1/2A in a 56-year-old female patient. The patient experienced elevated creatine kinase levels lasting 5 years, muscle soreness of the limbs lasting 4 years, and exacerbation of limb fatigue lasting 1 month. Early in the course of the disease, the patient experienced severe bradycardia and was later diagnosed with sick sinus syndrome. In addition to cardiac involvement, our patient also had primary hyperparathyroidism during the disease course, which was confirmed pathologically as a parathyroid adenoma. A biopsy of the left biceps showed pathological manifestations of mild myogenic damage. All-exon gene sequencing confirmed the diagnosis of LGMD R1/2A, and she was treated with vitamin E, vitamin B2, and coenzyme Q. Due to atrial fibrillation secondary to sick sinus syndrome, a pacemaker was implanted. Conclusion The patient in this case study had adult late-onset LGMD R1/2A with cardiac involvement and functional parathyroid adenoma, which is rare and clinically significant. Therefore, early clinical identification, diagnosis, as well as targeted and active treatments can improve the prognosis of such patients.

Abstract Background Gliomas are the most common malignant brain tumors characterized by angiogenesis and invasive growth. A detailed understanding of its molecular characteristics could provide potential therapeutic targets. In the present study, we sought to explore the key gene CXCL8 in methionine metabolism in gliomas and its potential role in angiogenesis. Methods U251 glioma cells were divided into control and methionine-restriction tolerant (constructed with 1/4 of the standard level of methionine in the culture medium) groups for transcriptome and metabolome analysis. To confirm the functions and mechanism of CXCL8 in glioma, heat map, volcano map, Go enrichment, gene set enrichment analysis (GSEA), protein–protein interaction network analysis, RT-PCR, western blotting assays, chicken embryo chorioallantoic membrane (CAM) test, chicken embryo yolk sac membrane (YSM) test and transplantation tumor nude mice model were performed. The TCGA database, CGGA database and clinical tissue samples were used to analyze CXCL8’s significance on prognosis for patients with glioma. Results CXCL8 expression was significantly up-regulated in methionine-restricted tolerance cells, it also activated vascular system development and triggered angiogenesis. CXCL8 expression is negatively correlated with survival prognosis in gliomas. Conclusions Glioma cells promote angiogenesis in methionine-restricted environments through the activation of CXCL8, compensating for nutrient deprivation, and possibly contributing to the failure of antiangiogenic therapy.

ObjectiveThe aim of this study was to examine the factors influencing the prognosis of patients diagnosed with acute basilar artery occlusion (BAO) who receive endovascular treatment. Our particular emphasis was on the predictive implications of the time window for treatment (from symptom onset to femoral artery puncture) and preoperative symptoms for prognosis.MethodsA retrospective analysis of data collected from 51 BAO patients who received endovascular treatment at the Neurosurgery Department of Jinhua Central Hospital from April 2018 to October 2021 was undertaken. The data included immediate post-interventional recanalization rates and the 90-day clinical prognoses of the patients. We used the Modified Rankin Scale (mRs) to categorize patients into two prognosis groups: a favorable prognosis group (mRs score ≤2) and an unfavorable prognosis group (mRs score >2). Preoperative symptoms were gauged using the Glasgow Coma Scale (GCS) and National Institutes of Health Stroke Scale (NIHSS) scores. A logistic regression analysis was conducted to identify risk factors affecting the prognosis of BAO patients following endovascular treatment.ResultsThe procedure resulted in complete recanalization in all patients (100%). However, four patients (7.8%) passed away during the postoperative hospitalization period. The remaining 47 patients were followed up for 3 months. It was found that 15 patients (31.91%) had a favorable prognosis, while 32 (68.09%) had an unfavorable prognosis. It was generally observed that patients with an unfavorable prognosis had notably higher preoperative GCS and NIHSS scores (p < 0.05). Logistic regression analysis revealed that preoperative symptom severity, as indicated by NIHSS score, and treatment time window were significant prognostic risk factors for patients undergoing endovascular treatment for BAO (p < 0.05).ConclusionEndovascular intervention for BAO appears to be safe and effective, with greater likelihood of a favorable prognosis in patients treated within ≤6 h. The chances of favorable prognosis could potentially be linked to the severity of the patient's preoperative symptoms.