RESUMO
Moyamoya disease is mainly caused by stenosis or occlusion of the terminal internal carotid artery, anterior cerebral artery, and proximal middle cerebral artery, and an abnormal vascular network is formed near the stenosis or occlusion of vascular lesions. Moyamoya disease can lead to a series of complications such as transient cerebral ischemia, cerebral infarction, and cerebral hemorrhage, which have been reported in the literature. Eye involvement with moyamoya disease is relatively rare in the literature. This article introduces a case of central retinal vein occlusion in a teenager related to moyamoya disease. The patient was only 16 years old and suddenly suffered from vision loss in the left eye. After detailed ophthalmological examination, she was diagnosed with central retinal vein occlusion in the left eye. In order to find the exact cause, we conducted head and neck CTA and brain DSA examinations on the patient, and finally found that the main cause of central retinal vein occlusion in this patient was moyamoya disease, which indicated that central retinal vein occlusion in young people may be caused by moyamoya disease in the early stage. This discovery has great clinical significance, for characteristic manifestations of the eye, suggesting that examination of moyamoya disease is a routine item for such patients, so as to achieve early detection, early diagnosis and early treatment, in order to avoid cerebral infarction, cerebral palsy, and serious or even life-threatening complications such as bleeding.
RESUMO
Objective To investigate the expression of mitogen-activated protein kinase kinase 1 (MAP2K1) in gastric cancer and its clinical significance. Methods Immunohistochemistry and Western blotting were used to detect the protein expression of MAP2K1 in gastric cancertissues and cells. The morphology and the expression position of MAP2K1 were observed by immunofluorescence. MAP2K1 mRNA expression in gastric cancer tissues was analyzed by data mining of Starbase database and Oneomine database. The correlation between MAP2K1 mRNA expression and clinicopathological features was analyzed by UALCAN database. Survival analysis was performed using Kaplan Meier-Plotter online analysis tools. GEPIA2 database mining the relationship between MAP2K1 and gastric cancer stem cell related factors and drug resistance related factors. Results Immunohistochemistry, immunofluorescence and Western blotting showed that MAP2K1 protein was highly expressed in gastric cancer tissues and cells, and MAP2K1 was expressed in the cytoplasm of gastric cancer. According to the analysis of various databases, the expression of MAP2K1 mRNA in gastric cancer tissue was higher than that in normal gastric tissue, and the expression of MAP2K1 mRNA was closely related to gastric cancer stage, grade, lymph node metastasis and patient gender, and the overall survival rate of gastric cancer patients in the group with high MAP2K1 mRNA expression was significantly lower than that in the group with low MAP2K1 mRNA expression, which may be related to the characteristics of gastric cancer stem cells and drug resistance. Conclusion MAP2K1 is highly expressed in gastric cancer, and its expression level may affect the poor prognosis of patients by regulating stem cell related factors and drug resistance related factors. MAP2K1 may be a new diagnostic marker to determine the prognosis of gastric cancer patients.
RESUMO
BACKGROUND: To report a case of Werner's syndrome with bilateral juvenile cataracts. CASE PRESENTATION: Review of the clinical, laboratory, photographic, genetic testing of the patient. A 26-year-old Chinese man presented with impaired vision in both eyes for more than a year. Anterior segment examination of both eyes revealed cataract. According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner's syndrome was made. Next-generation sequencing identified a homozygous WRN mutation in this patient. CONCLUSIONS: The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner's syndrome diagnosis.
