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Objective:To report cases of multiple mitochondrial dysfunction syndrome 2 (MMDS2) caused by BOLA3 gene mutation, hoping to help clinical diagnosis. Methods:The medical records of a child with MMDS2 admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in November 2021 were analyzed, and the clinical, imaging characteristics and prognosis of MMDS2 were summarized by literature review.Results:This 1 year and 9 months old male had a disease that started in childhood, with motor function regression and hyperlactatemia. Head magnetic resonance imaging indicated white matter lesions, and gene examination indicated the homozygous variation of BOLA3 gene c.295C>T(p.Arg99Trp). The diagnosis of MMDS2 was clear for the child. After treatment, the clinical symptoms and imaging of the child recovered significantly. Through literature review, 13 children with MMDS2 reported in 7 English literatures were reviewed. These cases had similar manifestations with the case reported in this study. Among them, 1 case recovered and 8 cases died in infancy. Conclusions:MMDS2 patients often show nervous system dysfunction such as motor regression, elevated lactate and white matter lesions, which often cause multiple system disorders. Some children die early, but some of them can be recovered.
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PurposeTo investigate the independent risk factors of refractory hypertension for effective screening and treatment.Materials and Methods 142 patients with refractory hypertension underwent renal angiography, morbidity of renal artery stenosis (RAS) and angiography results were analyzed using univariate and multivariate Logistic regression.Results Thirty-eight cases of RAS were identiifed with incidence of 26.8%. Univariate analysis indicated that diabetes, peripheral artery disease and coronary heart disease were the predictor for RAS (P<0.05 orP<0.01). Multivariate regression analysis demonstrated that peripheral artery disease (OR 5.011, 95%CI 2.17-8.93,P<0.001) was independent risk factors for RAS. Diabetes and coronary heart disease were not independent risk factors.Conclusion Peripheral artery disease is independent risk factor for RAS among patients with refractory hypertension, which can serve as a screening index of renal angiography or renal angioplasty and stenting for RAS.
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Objective To evaluate the clinical efficacy of transcatheter super-selective hepatic artery embolization (TAE) in treating symptomatic polycystic liver disease (PLD). Methods A total of 8 patients with PLD, who were admitted to authors’ hospital during the period from 2009 to 2013 to receive TAE, were enrolled in this study. The patients included 6 females and 2 males with a mean age of 59.5 years (54-65 years). The used embolic agents were polyvinyl alcohol (PVA) microspheres and micro spring coils. Both plain and contrast-enhanced CT scans of the upper abdomen were performed before TAE as well as at 12 months after TAE; the total volume of the hepatic cysts was measured and the changes of the cystic volume were determined. Statistical analysis was conducted using paired t test. Results The technical success rate was 100%. After TAE, the patients developed fever and different degrees of discomfort at liver area, which were disappeared after active symptomatic medication, and no serious complications occurred. The patients were followed up for 12 months , the mean total volume of the intrahepatic cysts decreased from preoperative (5 794±2 066) cm3 (range 3 120-8 935 cm3) to postoperative (3 832±1 525) cm3 (range 2 019-5 925 cm3), the difference was statistically significant (t=6.971, P<0.001). The reduction ratio of total volume of intrahepatic cysts was 34.6%±11.3%(24.3%-60.4%). Conclusion For symptomatic polycystic liver disease, transcatheter super-selective hepatic arterial embolization is a newly-developed treatment. This technique is safe and effective with reliable response and fewer complications. Therefore, it should be recommended in clinical practice.