1.Clinical and electrophysiological characteristics of patients with facial onset sensory motor neuronopathy syndrome
Xunzhe YANG ; Dongchao SHEN ; Nan HU ; Lei ZHANG ; Jing FAN ; Yimin WU ; Youfang HU ; Qingyun DING ; Yuzhou GUAN ; Mingsheng LIU ; Liying CUI
Chinese Journal of Neurology 2023;56(11):1217-1222
Objective:To investigate the clinical and electrophysiological characteristics of facial onset sensory motor neuronopathy (FOSMN) syndrome.Methods:Ten patients diagnosed with FOSMN syndrome in Peking Union Medical College Hospital from January 2012 to December 2022 were included. The clinical and electrophysiological characteristics of patients were analyzed and summarized, and the genetic testing was also performed in these patients.Results:The age of onset was (56.6±6.5) years, and the longest survival duration of disease was 10 years. All patients had numbness around the face and mouth as the first symptom and abnormal blink reflex. A total of 52 sensory nerve conduction nerves were detected, among which 2 median nerves and 2 μlnar nerves showed decreased amplitude of sensory nerve action potential. Needle electromyography showed neurogenic lesions, with both progressive and chronic denervation. Whole exome sequencing identified the heterozygous variant c.272A>C in the exon 4 of the SOD1 gene resulting in the amino acid change p.Asp90Ala in 1 patient. In all patients, the disease progressed relentlessly and eventually led to involvement of respiratory muscle. Conclusion:FOSMN syndrome is characterized by abnormal blink reflex and sometimes abnormal sensory nerve conduction may be shown on electrophysiologic testing.
2. Protective effects of folic acid on retina in diabetic mice and its anti-oxidative stress mechanism
Yinglan LI ; Min WU ; Xiaoqin XUE ; Changxing LI ; Youfang LEI ; Dongfang DAI
Chinese Journal of Experimental Ophthalmology 2020;38(1):23-30
Objective:
To explore the protective effects of folic acid on retinas and its anti-oxidative stress mechanism in diabetic mice.
Methods:
Thirty-two 16-week-old SPF degree male db/db mice were randomized into model group and folic acid group, and 16 matched C57BL/KsJ mice were used as controls.Folic acid was used to the mice by oral gavage once per day with the dose of 71 μg/kg (2 ml) for 60 days in the folic acid group, and the same volume of normal saline solution was used in the model group and control group in the same way.The activities, mental state, body weight, and fasting plasma glucose (FPG) of the mice were recorded during experiment.At the end of the intervention, the mice were sacrificed and the retinas and blood sample were obtained.The histopathology of the retinas was examined with hematoxylin- eosin staining; serum homocysteine (Hcy) was detected by ELISA assay; the relative expressions of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) mRNA were detected in the retinas by real-time fluorescence quantitative PCR; the relative expressions of B lymphoma 2 protein (bcl-2), bcl-2 related X protein (bax), 3-nitrotyrosine (3-NT) and 4-Hydroxynonine (4-HNE) proteins were assayed by Western blot assay; superoxide dismutase (SOD), 8-hydroxydeoxyguanosine (8-OHdG) and malondialdehyde (MDA) levels in the retinas were detected by biochemical kits, and immunofluorescence assay was used to detect the expression of NADPH oxidation 4 (NOX4) in the retinas.The use and care of the experimental animals adhered to the ARVO Statement by the American Association for Vision and Ophthalmology Research and this study protocol was approved by Ethic Committee of Qinghai University (QHDX 2018-35).
Results:
Over the experimental period, The FPG was normal and body weight was gradually increased in the mice of control group.The FPG>16.7 mmol/L and the mice appeared obese.In the folic acid group, both body mass and FPG of the mice were gradually reduced.At the end of drug administration, serum Hcy concentration of the mice was (27.18±3.18)μmol/L in the model group, which was significantly higher than (8.28±2.18)μmol/L in the control group and (13.73±2.54)μmol/L in the folic acid group (all at