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Objective To analyze the clinical manifestations, imaging features, histopathology and genes of cerebrotendinous xanthomatosis (CTX) to improve the understanding of clinical workers on the disease. Methods The imaging examination, histopathological and gene detection methods were synthetically applied, and the disease characteristics of two patients with CTX, admitted to our hospital in March 2018 , were analyzed. Results (1) Patient one was a 52-year-old male, with typical neurological symptoms: weakness of both lower limbs, damage of pyramidal tract and extrapyramidal system, cognitive impairment, and ataxia; non-neurological symptoms included cataract, arch foot, and Achilles tendon mass; cranial MR imaging indicated symmetrical abnormal signal of cerebellar dentate nucleus, low signal on T1WI, and slightly high and low signal intensity on T2WI/FLAIR; achilles tendon biopsy showed fibrous connective tissues with multiple xanthoma cells and multinucleated giant cells aggregation, accompanied by cholesterol crystallization. (2) Another 16-year-old male presented with cerebellar ataxia, recurrent seizures, mental and motor retardation, and congenital cataract; two heterozygous mutations of CYP27A1 gene were detected by gene detection; and the mutations were c.373-379 delCCAGTAC and c.1420C>T. Conclusion The clinical manifestations of CTX are varied; early imaging examination lacks specificity; it can be clearly diagnosed by histopathology and CYP27A1 gene detection.
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Aim To investigate the effect of hydrogen sulfide on hepatic lipid accumulation in obese mice. Methods C57 BL/6 J mice were randomly divided into control group, model group, and NaHS group. The mice of the control group were fed with normal diet. The mice of the model group and the NaHS group were fed with high-fat diet. From the thirteenth week, the mice of NaHS group were injected intraperitoneally with NaHS (H2S donor) in a dose of 50 μmol·kg-1 per day for 4 weeks and the mice of the model group were injected with the same volume of saline. All mice were sacrificed at the end of the 16th week. The tis-sues of liver were homogenized and centrifugated. The supernatants were used for the determination of triglyc-eride and cholesterol in liver. The morphology of liver was tested by H&E staining. Liver lipid accumulation was determined by oil red staining. Total RNA was ex-tracted from frozen tissue of liver. PCR was used to de-tect CPT-1 , FAS gene expression and ELISA method was used to detect CPT-1,FAS activity in mice liver. Results The body weight of the mice from NaHS group and model group was bigger than that of the mice from control group. Compared with the model group, the body weight of the mice from NaHS group was less;the content of triglyceride and cholesterol in liver was lower; the degree of liver tissue pathological changes and lipid accumulation were alleviated; CPT-1 expres-sion and activity were increased; FAS expression and activity were decreased. Conclusions These data in-dicate that hydrogen sulfide can reduce the lipid con-tent of liver tissue in obese mice and alleviate fatty liv-er. The mechanism may be associated with the in-creased expression of CPT-1 and the decreased expres-sion of FAS in liver.
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Recent data have revealed that inhibiting autophagy exacerbates lipid accumulation in hepatocytes and nitrite treatment reduces total triglyceride levels in the high-fat diet mice. Therefore, the present study aimed to determine the effects of nitrite on simple hepatic steatosis and the possible role of autophagy. Firstly, steatotic L-02 cells were induced by incubating L-02 cells with 1.2 mmol · L(-1) oleic acid (OA) for 24 h. Secondly, steatotic L-02 cells were treated with 0.2 mmol · L(-1) sodium nitrite (SN) plus 3-methyladenine (3-MA), or chloroquine (CQ) for 24 h, and then lipid accumulation was measured with oil red O staining and triglyceride quantification. The notable steatosis could be observed in L-02 cells following exposure to 1.2 mmol · L(-1) OA for 24 h. Treatment with 0.2 mmol · L(-1) sodium nitrite reduced lipid accumulation in steatotic L-02 cells. 3-MA weakened the ability of sodium nitrite to ameliorate hepatic steatosis. Additionally, the sodium nitrite increased number of LC3-II immunostaining puncta and LC3-II protein expression was confirmed by immunofluorescence or Western blot analysis, and the effects were enhanced by CQ treatment. The number of increased cytoplasm vacuoles and lysosomes increased was confirmed by phase contrast and fluorescence microscope respectively. The increased autolysosome was detected by electron microscopy, this phenomenon could be reversed by CQ treatment. These data demonstrated that sodium nitrite enhanced the autophagic flux and decomposition of triglycerides in steatotic L-02 cells.
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Objective To investigate the effect and mechanism of extract ginkgo biloba (EGb) on learning memory ability and hippocampus CA1 region Caspase-9P35 activity in dementia rats induced by D-gal.Methods 48 rats were randomly divided into six groups.The dementia model were established by injecting intraperitoneally with the D-gal and each EGb group was injected different doses of EGb simultaneously.TUNEL method was used to detect apoptosis of hippocampal neurons in the CA1 region.Immunohistochemistry and Western Blot were used to determine the expression of Caspase-9P35 in hippocampus CA1 region.Results Compared with the normal group,TUN EL-positive neurons ( (37.8 ± 1.3 ),(0.8 ± 0.2 ) ) and the activity of Caspase-9P35 ( (37.6 ±1.8 ),(6.2 ± 1.3 ) ) had significant increase in hippocampal CA1 subfield of D-gal group (P ＜ 0.01 ).Contrast to D-Gal group,TUNEL-positive neurons ( ( 17.6 ± 0.9),(9.8 ± 0.8 ),( 37.8 ± 1.3 ) ) and the activity of Caspase9P35( (28.6 ± 1.3),(25.0 ± 1.6),(37.6 ± 1.8) ) were significant decreased in EGb-M and EGb-H group (P＜0.01 ).While TUNEL-positive neurons and the activity of Caspase-9P35 had not significant difference in the therapy group than D-Gal group (P ＞ 0.05).Conclusion EGb can improve the cognitive level of the dementia rats.One of the therapeutic mechanisms may be to decrease the hippocampus CA1 region Caspase-9P35 activity.The results of the pretreatment group was more effective than the therapy group.
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<p><b>OBJECTIVE</b>To study the difference in stress and apoptosis related genes transcription between hTERT-RPE1 cells exposed to simulated microwave radiation and the cells with heat water bath, and the effects of microwave on gene transcription in cultured human retina pigment epithelial cells.</p><p><b>METHODS</b>cDNA microarray technique was used to detect the mRNA isolated from hTERT-RPE1 cells exposed to 2 450 MHz simulated microwave radiation and with heat water bath, respectively.</p><p><b>RESULTS</b>Among the 97 related aim genes, there were seven genes up-regulating its transcription, i.e., M31166 (2.52fold), L24123 (2.66fold), AF039704 (2.22fold), U67156 (2.07fold), AF040958 (2.13fold), NM-001423 (2.63fold) and NM-005346 (3.68fold). But, no notably down-regulating gene in transcription was detected.</p><p><b>CONCLUSIONS</b>Microwave could induce up-regulating in multiple stress and apoptosis related genes transcription in cultured human retina pigment epithelial cells, hTERT-RPE1 cells. Microwave radiation has unique effect itself in addition to its heat effect.</p>