Leukoencephalopathy with ataxia (LKPAT) is a rare autosomal recessive disorder caused by mutations of CLCN2 gene. LKPAT is clinically characterized by cerebellar ataxia, headache and cognition impairment. Brain magnetic resonance imaging showed characteristic hyperintensities along the pyramidal fiber tracts. Few cases have been reported so far. This article reported the clinical data of a 48 years old female patient with LKPAT for clinical reference.

Objective To investigate the risk factors of cerebral microbleeds (CMBs) in patients with acute isch?emic stroke of large-artery atherosclerosis. Methods One hundred twelve patients with acute ischemic stroke of large-ar?tery atherosclerosis admitted from July 2013 to January 2014 in Nanjing First Hospital affiliated to Nanjing Medical Uni?versity were enrolled. According to the results of MRI magnetic sensitive weighted imaging, the patients were divided into CMBs group or non-CMBs group. The history, general clinical data, serum biochemical results and MRI in both groups were enrolled. All the data were analyzed by the univariate and multivariate analysis. Results The results of univariate analysis showed that there were significant differences in age (61.620±11.479 vs. 70.620±11.185), serum uric acid (UA) level (278.920±69.512 vs. 353.460±111.206), serum creatinine (Cr) level (71.360±19.797 vs. 90.450±44.989), serum ho?mocysteine (Hcy) level (12.587±2.664 vs. 21.715±10.437) between the two groups (P<0.05). There were significant differ?ences in constituent ratio of Fazekas' s grade of periventricular hyperintensities and deep white matter hyperintensities between the two groups (P<0.05). The results of multivariate analysis showed that age (OR=0.963, 95%CI:0.905~1.025, P<0.05) and serum Hcy level (OR=1.487, 95%CI:1.219~1.813, P<0.05) were the independent risk factors for CMBs in patients with acute ischemic stroke of large-artery atherosclerosis. Conclusions Age and serum Hcy level are the inde?pendent risk factors for CMBs in patients with acute ischemic stroke of large-artery atherosclerosis.

Objective To study the protective mechanism of dl-3-n butylphthalide (NBP)on oxidative stress injury induced by hydrogen peroxide(H2O2)in rat bone marrow stem cells(rBMSCs).Methods The rBMSCs were divided into control,H2O2 and different concentration NBP pretreatment groups.The control group received no treatment.An oxidative stress injury model was induced by H2O2 for 4 hours with the final concentration 600 μmol/L in the H2O2 group.In the NBP pretreatment groups,the rBMSCs were pretreated with different NBP concentrations(0.1,1,10,and 100 μmol/L)for 24 hours,then treated with H2O2 for 4 hours with the final concentration 600 μmol/L.The cell viability was detected by MTT method.The apoptosis rate was detected by flow cytometry.Superoxide dismutase(SOD)activity and malondialdehyde(MDA)content were measured with SOD and MDA commercial kits.Results The cell activity(A)was 0.487 ±0.018 in the H2O2 group,and it was significantly lower than 0.750 ±0.016 in the control group(P =0.000);they were 0.597 ±0.024,0.666 ±0.033,and 0.658 ±0.012 in the NBP 1,10,and 100 μmol/L pretreatment groups,they were all significantly higher than the H2O2 group(all P =0.000),and showed a dose dependent manner.The apoptosis rate was(44.96 ± 2.84)% in the H2O2 group,and it was significantly higher than (0.15 ±0.07)% in the control group(P= 0.000).The apoptosis rates were(31.79±1.60)% 、(21.41 ± 1.92)% and(22.59 ± 1.78)% in the NBP 1,10,and 100 μmol/L pretreatment groups,they were all significantly lower than the H2O2 groups(all P= 0.000),and showed a dose-dependent manner.The SOD activity was(24.01 ± 2.85)U/mg in the H2O2 group(P = 0.000),and it was significantly lower than(43.58 ± 2.72)U/mg in the control group(P =0.000);they were(28.29 ± 1.19),(34.06 ± 1.83),and(31.76 ± 1.75)U/mg in the NBP 1,10,and 100 μmol/L pretreatment groups,and they were all significantly higher than the H2O2 group(all P = 0.000).The MDA content was(7.98 ± 0.55)nmol/mg in the H2O2 group,and it was significantly higher than(4.73 ± 0.53)nmol/mg in the control group(P =0.000);they were(6.97 ±0.29),6.09 ±0.28),and(6.15 ±0.41)nmol/mg,respectively in the NBP 1,10,and 100 μmol/L pretreatment groups(P = 0.000),they were significantly lower than the H2O2 group,and showed a dose-dependent manner.Conclusions NBP has obvious protective effects on oxidative stress injury induced by H2O2 in rBMSCs.Its mechanism may be associated with the role of antioxidant oxidative stress of NBP.

Objective To analyze the causal relationship between serum sex steroid hormone levels and myopia with the Mendelian randomization(MR)methods.Methods Sex hormone genetic tools classified by sex were publicly availa-ble summarized statistical data from the Genome-wide association study(GWAS)of the UK Biobank Consortium on sex hormone-binding globulin(SHBG),total testosterone(TT),bioavailable testosterone(BT),and estradiol(E2).The GWAS summarized statistical data for myopia were obtained from publicly available data published by the FinnGen Consorti-um R10.All data were downloaded from April 18 to April 31,2024 from the corresponding databases and analyzed.All re-sults from the MR study were mainly analyzed by inverse-variance weighting(IVW)method.Results The study showed that a higher serum SHBG level in European increased the risk of myopia development in women(IVW,OR=1.152,95％CI:1.014-1.308,P=0.029);low serum TT level(IVW,OR=0.821,95％CI:0.697-0.967,P=0.018)and serum BT lev-el(IVW,OR=0.820,95％CI:0.691-0.972,P=0.022)increased the risk of myopia development in women.There was no causal relationship between serum SHBG,TT,and BT levels and myopia in men.There was no causal effect between E2 level and myopia in women and men.The stability of our findings was supported by sensitivity analysis.Conclusion In-creased serum SHBG level and decreased serum TT and BT levels are associated with an increased risk of myopia in women,whereas no such association is found in men.There is no causal relationship between E2 and myopia.