Hereditary spastic paraplegia type 58 is rare, caused by pathogenic variations in KIF1C gene. Here, a case diagnosed in Qilu Hospital, Shandong University, was reported. The 15-year-old female suffered tremor in bilateral upper limbs which was aggravated gradually since age 8. Cerebellar ataxia, positive pyramidal tract sign and dystonic tremor were prominent on physical examination. The brain magnetic resonance imaging showed T 2-hyperintense signals in bilateral pyramidal tracts, optic radiations and superior cerebellar peduncles, with mild cerebellar atrophy. Whole exon sequencing revealed the unreported homozygous c.425_426delTG (p.V142Gfs*10) mutation which was presumed pathogenic.

BACKGROUND: Excessive exposure to fluoride can reduce intelligence. Methylenetetrahydrofolate dehydrogenase, cyclohydrolase, and formyltetrahydrofolate synthetase 1 ( MTHFD1 ) polymorphisms have important roles in neurodevelopment. However, the association of MTHFD1 polymorphisms with children's intelligence changes in endemic fluorosis areas has been rarely explored. METHODS: A cross-sectional study was conducted in four randomly selected primary schools in Tongxu County, Henan Province, from April to May in 2017. A total of 694 children aged 8 to 12 years were included in the study with the recruitment by the cluster sampling method. Urinary fluoride (UF) and urinary creatinine were separately determined using the fluoride ion-selective electrode and creatinine assay kit. Children were classified as the high fluoride group and control group according to the median of urinary creatinine-adjusted urinary fluoride (UF Cr ) level. Four loci of MTHFD1 were genotyped, and the Combined Raven's Test was used to evaluate children's intelligence quotient (IQ). Generalized linear model and multinomial logistic regression model were performed to analyze the associations between children's UF Cr level, MTHFD1 polymorphisms, and intelligence. The general linear model was used to explore the effects of gene-environment and gene-gene interaction on intelligence. RESULTS: In the high fluoride group, children's IQ scores decreased by 2.502 when the UF Cr level increased by 1.0 mg/L (β = -2.502, 95% confidence interval [CI]:-4.411, -0.593), and the possibility for having "excellent" intelligence decreased by 46.3% (odds ratio = 0.537, 95% CI: 0.290, 0.994). Children with the GG genotype showed increased IQ scores than those with the AA genotype of rs11627387 locus in the high fluoride group ( P   <  0.05). Interactions between fluoride exposure and MTHFD1 polymorphisms on intelligence were observed (Pinteraction < 0.05). CONCLUSION Our findings suggest that excessive fluoride exposure may have adverse effects on children's intelligence, and changes in children's intelligence may be associated with the interaction between fluoride and MTHFD1 polymorphisms.
Child ; Creatinine ; Cross-Sectional Studies ; Fluorides/urine* ; Formate-Tetrahydrofolate Ligase ; Humans ; Intelligence/genetics* ; Methylenetetrahydrofolate Dehydrogenase (NADP) ; Methylenetetrahydrofolate Reductase (NADPH2)

Objective:To evaluate the intervention effect of various drugs on glutathione (GSH) and superoxide dismutase (SOD) enzyme activity of rats kidney with acute nickel carbonyl poisoning.Methods:In January 2019, The 250 SPF male SD rats were randomly divided into normal control group ( n=10) , poisoned group ( n=40) and treatment groups ( n=200) according to the random number table method. And the treatment groups were divided into methylprednisolone group (20 mg/kg) , DDC group (100 mg/kg) , sodium selenite group (10 μmol/kg) , Shenfu huiyang decoction group (0.25 ml) and methylprednisolone combined with DDC group (100 mg/kg) , with 40 mice in each group. Except for the normal control group, rats in the other groups were exposed to nickel carbonyl for 30 min, at 4 h and 30 h after exposure, the rats in each treatment group were intraperitoneally injected with corresponding drugs, and kidney tissues were collected 3 d and 7 d after administration, with 10 mice in each group. The activities of GSH and SOD in kidney were measured by enzyme-linked immunosorbent assay, and using electron microscopy observe ultrastructure changes. Results:Compared to the control group, the activities of GSH and SOD enzyme of poisoned group were significantly decreased at 3 d or 7 d after 4 h or 30 h exposure, and the difference was statistically significant ( P=0.000, 0.031, 0.001, 0.033) , the epithelial nuclei of proximal convoluted tubules were pyknosis and lysosome hyperplasia in the cytoplasm. And compared to poisoned group, the activities of GSH and SOD enzyme of methylprednisolone+DDC group were significantly increased at treatment with 7 d after 4 h exposure, the difference was statistically significant ( P=0.022, 0.000) , and the activities of GSH and SOD enzyme of methylprednisolone and enzyme of methylprednisolone+DDC group were significantly higher at 7 days than at 3 days, the difference was statistically significant ( P=0.020, 0.017, 0.018, 0.033) . The results of electron microscopy showed that the cell nuclei and cytoplasmic organelles of proximal convolute tubule were almost restored to normal tissue level of both methylprednisolone group and methylprednisolone+DDC group. Conclusion:The methylprednisolone and methylprednisolone+DDC have obvious repair effect on renal enzyme activity level of rats with acute nickel carbonyl poisoning, and the treatment effect is better for a long time of medication.

Objective:To evaluate the intervention effect of various drugs on glutathione (GSH) and superoxide dismutase (SOD) enzyme activity of rats kidney with acute nickel carbonyl poisoning.Methods:In January 2019, The 250 SPF male SD rats were randomly divided into normal control group ( n=10) , poisoned group ( n=40) and treatment groups ( n=200) according to the random number table method. And the treatment groups were divided into methylprednisolone group (20 mg/kg) , DDC group (100 mg/kg) , sodium selenite group (10 μmol/kg) , Shenfu huiyang decoction group (0.25 ml) and methylprednisolone combined with DDC group (100 mg/kg) , with 40 mice in each group. Except for the normal control group, rats in the other groups were exposed to nickel carbonyl for 30 min, at 4 h and 30 h after exposure, the rats in each treatment group were intraperitoneally injected with corresponding drugs, and kidney tissues were collected 3 d and 7 d after administration, with 10 mice in each group. The activities of GSH and SOD in kidney were measured by enzyme-linked immunosorbent assay, and using electron microscopy observe ultrastructure changes. Results:Compared to the control group, the activities of GSH and SOD enzyme of poisoned group were significantly decreased at 3 d or 7 d after 4 h or 30 h exposure, and the difference was statistically significant ( P=0.000, 0.031, 0.001, 0.033) , the epithelial nuclei of proximal convoluted tubules were pyknosis and lysosome hyperplasia in the cytoplasm. And compared to poisoned group, the activities of GSH and SOD enzyme of methylprednisolone+DDC group were significantly increased at treatment with 7 d after 4 h exposure, the difference was statistically significant ( P=0.022, 0.000) , and the activities of GSH and SOD enzyme of methylprednisolone and enzyme of methylprednisolone+DDC group were significantly higher at 7 days than at 3 days, the difference was statistically significant ( P=0.020, 0.017, 0.018, 0.033) . The results of electron microscopy showed that the cell nuclei and cytoplasmic organelles of proximal convolute tubule were almost restored to normal tissue level of both methylprednisolone group and methylprednisolone+DDC group. Conclusion:The methylprednisolone and methylprednisolone+DDC have obvious repair effect on renal enzyme activity level of rats with acute nickel carbonyl poisoning, and the treatment effect is better for a long time of medication.

Objective:To explore the factors affecting bone mineral density (BMD) in adult males with low-to-moderate fluoride exposure in Henan Province.Methods:Adult male villagers from low-to-moderate fluoride exposure areas in Tongxu County, Kaifeng City, Henan Province were recruited from April to May 2017 based on cluster random sampling. Questionnaire survey, physical measurements and urinary samples collection were conducted respectively. Urinary fluoride (UF) was determined by fluoride ion-selective electrode. Ultrasound bone densitometer was used to measure BMD (T-score). Partial correlation analysis and multiple linear regression were used to analyze the influence factors of BMD.Results:A total of 439 adult males were included in this study. Age, body mass index (BMI), UF content, and T-score of the participants were (47.99 ± 8.49) years, (25.77 ± 3.23) kg/m 2, (1.34 ± 0.74) mg/L, and-1.79 ± 0.79, respectively. Partial correlation analysis showed a significantly positive correlation between BMI and T-score after age adjustment ( r = 0.194, P < 0.05). Multiple linear regression showed that T-score decreased by 0.015 (95% CI:-0.024 -- 0.005, P < 0.05) for each 1-year increase in age and T-score increased by 0.034 (95% CI: 0.009-0.059, P < 0.05) for each 1.0 kg/m 2 increase in BMI. Interaction analysis showed that T-score was closely related to the interaction between overweight (≥24.0 kg/m 2), non-smoking, tea drinking and UF [ β (95% CI): 0.134 (0.001-0.269), 0.163 (- 0.015-0.337), 0.215 (- 0.006-0.436), P < 0.10]. Conclusions:Our findings reveal a negative correlation between age and BMD, and a positive correlation between BMI and BMD in adult males with low-to-moderate fluoride exposure in Henan Province. In addition, low-to-moderate fluoride exposure is more likely to damage the BMD of smokers.

Antibodies, Neutralizing/immunology* ; Antibodies, Viral/immunology* ; COVID-19/virology* ; COVID-19 Vaccines/immunology* ; Humans ; SARS-CoV-2/pathogenicity* ; Spike Glycoprotein, Coronavirus/immunology* ; Vaccines, Inactivated/immunology*

To explore the threshold effect of body mass index (BMI) on bone mineral density (BMD) in Chinese women living in the fluorosis area, we conducted a cross-sectional study and recruited 722 women in rural areas in Henan Province, China. After detection and analyses, we found that compared with the normal BMI group, the risk of osteoporosis in the overweight and obese groups were reduced by 32% and 69%, respectively. Threshold effect analysis showed that BMD was positively correlated with BMI when BMI was 16.8-31.2 kg/m 2; while when BMI was greater than 31.2 kg/m 2, the correlation reached saturation. The correlation observed between low-to-moderate fluoride exposure and BMD in rural women was not significant.

To explore the threshold effect of body mass index (BMI) on bone mineral density (BMD) in Chinese women living in the fluorosis area, we conducted a cross-sectional study and recruited 722 women in rural areas in Henan Province, China. After detection and analyses, we found that compared with the normal BMI group, the risk of osteoporosis in the overweight and obese groups were reduced by 32% and 69%, respectively. Threshold effect analysis showed that BMD was positively correlated with BMI when BMI was 16.8-31.2 kg/m 2; while when BMI was greater than 31.2 kg/m 2, the correlation reached saturation. The correlation observed between low-to-moderate fluoride exposure and BMD in rural women was not significant.

OBJECTIVE： To establish a method for simultaneous determination of 27 kinds of heavy metals and trace elements in Halloysitum album from different origins. METHODS： The sample was dissolved by wet digestion. Using inductively coupled plasma mass spectrometry （ICP-MS）， carrier gas was argon and collision gas was helium； plasma gas flow rate was 15.0 L/min；   flow rate of carrier gas was 1.17 L/min and collision gas flow rate was 5.0 mL/min； atomizer was Barbinton， and sampling depth was 8.0 mm； atomizing chamber temperature was 2 ℃； radio frequency power was 1.3 kW； peristaltic pump revolutions was 30 r/min. In full quantitative analysis model， the number of test points was 3， the analysis time was 0.1 s， the repetition was 3 times， clustering analysis was conducted by using PASW Statistics 18.0 software. RESULTS： The linear range of 27 kinds of heavy metals and trace elements were 0-200 μg/L（r≥0.996 5）； the quantitative limit was 0.003 41-75.485 μg/L and the detection limit was      0.001 1-24.350 0 μg/L. RSDs of precision， stability and repeatability tests were all less than 7％； average recovery was 72.3％- 129.1％ （RSD was 0.9％-9.4％， n＝6）. The content of Al was 0.01-123 220.20 mg/kg， and Al was the element with the highest content. Li， Na， Mg， K， Ca， V， Mn， Fe， Co， Ni， Zn， Ga， Se， Rb， Sr， Ba and U were the principal components of trace elements and could be used as characteristic elements； 26 batches of Halloysitum Album samples could be grouped into 4 categories. CONCLUSIONS： The established method is simple， fast and highly sensitive， can improve the precision and accuracy of test results， and it is suitable for the determination of heavy metals and trace elements in Halloysitum album.

Objective To explore the effect on prognosis of attenuated plaque (AP)in patients with acute coronary syndrome (ACS)after percutaneous coronary intervention(PCI).Methods This study was a prospective study which included 225 ACS patients who admitted to the cardiology and met the conditions between January 2009 and December 2011.Clinical data,intravascular ultrasound characteristics of plaque, blood flow in coronary angiography and cardiovascular complications within 30 days after PCI were recorded.The main form of follow-up was telephone follow-up,supplemented by patient follow-up and out-patient follow-up.Endpoint was major adverse cardiac events (MACE).Kaplan-Meier method was used to estimate survival rate.The survival difference between the two groups was compared using the Log-Rank test.Results Extravascular elastic membrane area (EEMA),plaque area (PA),plaque burden,remodeling index in AP group were significantly increased than those in non-AP group.Corrected TIMI frame count (CTFC)immediately after the balloon dilatation was significantly higher in AP group than in non-AP group. Recent overall complications were more frequently documented in AP group than in non-AP group,but long-term follow-up outcome of MACE-free survival curves showed no significant difference between the two groups.Conclusions Recent prognosis,not long-term prognosis,is affected by attenuated plaque in ACS patients after PCI,which help to stratify risk further and guide treatment in ACS patients.