The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China / 中华神经科杂志

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Genetic risk score: principle, methods and application / 中华流行病学杂志

Genetic risk score (GRS) is used for evaluating the effects of genetic susceptible factors in risk prediction models.Five methods are commonly used for GRS:i.e.simple count genetic risk score (SC-GRS),odds ratio weighted genetic risk score (OR-GRS),direct logistic regression genetic risk score (DL-GRS),polygenic genetic risk score (PG-GRS) and explained variance weighted genetic risk score (EV-GRS).This paper summarizes the models,application conditions,advantages and limitations of the five methods.The complexity of prediction models increased along with the inclusion of more susceptible SNPs,some method have been developed to solve the problems,but the effects of new methods needs further evaluation.

Relationship between tumor necrosis factor-α and interleukin-6 with hyperuricemia in ethnic Uygur, Kazak,and Han / 中华内分泌代谢杂志

To analyse the relationship between tumor necrosis factor (TNF)-α and interleukin-6 with hyperuricemia in ethnic Uygur,Kazak,and Han in Xinjiang province.1 200 cases of Uygur,Han,and Kazak populations were randomly enrolled.Serum uric acid,triglyceride,total cholesterol,high density lipoprotein-cholesterol,low density lipoprotein-cholesterol,fasting plasma glucose,body weigh and height,waist circumference,and hip circumference were measured.Waist-to-hip ratio and body mass index were calculated,and TNF-α,interleukin-6 were determined.The differences between uric acid and inflammatory factors were statistically significant; The differences in TNF-α was statistically significant between high uric acid group and control group in Uygur and Han,and the differences in interleukin-6 was statistically significant between high uric acid group and control group in Uygur,Kazak,and Han(P＜0.01).TNF-α and interleukin-6 were positively correlated with serum uric acid in Uygur,but in Kazak only interleukin-6 was negatively correlated with serum uric acid,in Han only interleukin-6 was positively correlated with serum uric acid(P ＜ 0.01).Hyperuricemia was associated with inflammatory factors,TNF-α,interleukin-6,but there were ethnic differences among Uygur,Kazak,and Han,thus it may provide people of new ideas for prevention and treatment of hyperuricemia and other related metabolic disorders.

Apoptosis and differentiation induced by sodium selenite combined with all-trans retinoic acid (ATRA) in NB4 cells / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the effects of low dose sodium selenite combined with all-trans retinoic acid (ATRA) on apoptosis and differentiation of human acute promyelocytic leukemia (APL) NB4 cells.</p><p><b>METHODS</b>Apo-ptosis was detected by translocation of phosphatidylserine (PS) with a Annexin-V kit and DNA fragmentation by agarose gel electrophoresis analysis, cell differentiation was studied by flow cytometry of CD(11b) expression and NBT reduction assay.</p><p><b>RESULTS</b>Five micromol/L sodium selenite or 0.1 micromol/L ATRA alone could not induce apoptosis of NB4 cells within 48 hours. However, combination of the two drugs at the same doses as above could induce significant apoptosis in 48 hours characterized by increased PS translocation and DNA ladder. Sodium selenite at concentration of 2 micromol/L was not able to induce differentiation of NB4 cells, but when combined with 0.1 micromol/L ATRA, CD(11b) expression and NBT reduction were increased as compared with that of 0.1 micromol/L ATRA alone.</p><p><b>CONCLUSION</b>Low dose sodium selenite could enhance the effects of low dose ATRA in inducing apoptosis and differentiation of NB4 cells.</p>

Norm of Auditory Verbal Learning Test in the Normal Aged in China Community / 中国临床心理学杂志

Objective:To formulate the norm value of auditory verbal learning test(AVLT)in the normal aged in Chinese community.Methods:360 normal old people(55 to 85 years)in city proper of Shanghai were enrolled and evaluated by AVLT,MMSE test of words reading ability and executive ablity,memory self-evaluation and medical history related to cognitive impairment.Results:70% of the normal old people complained of hypomnesia;The age of 70 and 80 was the hinge points of auditory verbal memory decreasing.AVLT had a moderate relation to age,and a lower relation to educational level.Female did better in AVLT than Male.Furthermore,AVLT had a significant relation to MMSE score,a mild relation to memory self-evaluation,and only related to hypertension of all the medical history.The cut off score of short-term recall,long delayed term recall and total AVLT score(-1SD,-1.5SD and-2SD)was listed.Conclusion:Norm value of AVLT is an effective tool of testing memory impairment.

High brain iron in etiology of Alzheimer's disease and therapeutic approaches / 中国药理学通报

Excessive iron accumulation in the brain occurs in Alzheimer' s disease (AD) with oxidative stress,amyloid deposition,tau phosphorylation,and neuronal cell cycle regulatory failure,leading to apoptosis.Therefore,there is a direct link between iron metabolism and AD pathogenesis. The present review elaborates on high brain iron in etiology of AD and the development of iron-chelating therapy for AD,aiming at preventing or slowing down disease evolution.