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Objective:To report the clinical features, imaging findings and gene mutation features of a Chinese family with cerebral autosomal dominant arteriopathy with subcritical infarcts and leukoencephalopathy (CADASIL).Methods:We summarized the clinical and imaging features of a CADASIL family confirmed by gene sequencing. NOTCH3 gene sequencing was conducted for the proband, and the structure of the protein encoded by the mutant gene was predicted. Results:The patients in this family mainly presented with recurrent lacunar infarction and hypertension, without headache and emotional disorders such as anxiety or depression. Head MRI of the proband showed multiple lacunar infarctions and extensive white matter degeneration. Susceptibility-weighted imaging showed multiple small intracranial hemorrhages. The analysis of NOTCH3 gene showed that the proband had c.697T>A mutation. The 3D structure prediction of the protein encoded by this mutation locus showed that this locus could lead to the conversion of cysteine to serine at the 233rd position. Conclusions:The patients of this CADASIL family have a c.697T>A mutation of NOTCH3 gene. This mutation may cause the change of amino acid in the structure of the wild type Notch3 protein, which may lead to increased formation of β-folding structures in the surrounding region, thus changing the structure and function of protein and causing disease.
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ObjectiveTo explore the forest type and soil environment suitable for Panax ginseng. MethodThe yield， quality， soil chemical properties， soil enzyme activity， and soil microbial metabolism of 9-year-old P. ginseng under different forests were investigated. ResultThe quality of P. ginseng was significantly different among forest types. To be specific， P. ginseng under the Quercus mongolica forest had the highest quality， with the total saponin content of 2.27% which was 51.89% higher than that in P. ginseng under Larix gmelinii forest. The yield of P. ginseng under Q. mongolica forest and L. gmelinii forest （30 g·m-2） was the highest， 62.5% higher than that under Betula platyphylla forest. The soil content of organic matter， Cu， and Zn， and activity of sucrase and urease under Q. mongolica forest were lower than those under other forest types. The utilization rate of D-galacturonic acid by soil microorganisms under Q. mongolica forest was higher than that under other forest types， but the utilization rate of L-phenylalanine was lower than that under other forest types. The utilization rate of 2-hydroxybenzoic acid by soil microorganisms of B. platyphylla forest was significantly lower than that under other forest types. There was a negative correlation between soil Zn and ginsenoside Rb1 and Rc， and between soil K and ginsenoside Rb2 and Rb3. Mn and Cu were positively correlated with most saponins. The results of redundancy analysis showed that the soil microorganisms using carbon sources of amino acids， esters， acids， and sugars were the main factors causing the differences in P. ginseng among different forest types. ConclusionThe yield and quality of P. ginseng under Q. mongolica forest were the best， followed by the forest with different tree species， and coming in last was the B. platyphylla forest. This study is expected to provide theoretical support for the improvement of P. ginseng yield and quality and the improvement of ecological planting technology.
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Cognitive impairment includes several clinical processes from mild cognitive impairment to dementia, and now it has been a serious public health problem, as there is no effective treatment, it has caused a heavy economic and psychological burden on the family and society, therefore, it seems important to find effective intervention means.Vitamin D is an essential nutrient element for the human body, more and more evidences show that it also participates in many extraskeletal biological reactions, such as nervous system regulatory processes, in addition to calcium and phosphorus metabolism.Several researches have revealed that Vitamin D deficiency is associated with impaired cognition, the mechanisms mediating this link are poorly understood, what's more, for further clinical application, we need to solve the problems like choosing the suitable populations and drug dosage, therefore, this article summarizes and analyzes the effects of serum Vitamin D levels on the cognitive function of different populations, the research progress of Vitamin D intervention research and its possible mechanism of action, hoping to provide references for the clinical application of Vitamin D in the treatment of cognitive impairment.The results show that Vitamin D deficiency is related to the decline of cognitive function in different populations, and Vitamin D can improve cognitive function through reducing Aβ toxicity, anti-inflammatory and anti-oxidative stress and other mechanisms, its supplementation is expected to be an important measure of treating cognitive impairment, in the future, large-scale longitudinal cohort studies are needed to determine the optimal dosage and duration of treatment.
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Objective:To study the relationship between somatization symptoms and body mass index (BMI), sleep and cognitive function in patients with depression.Methods:A total of 119 patients with depression were selected from January to December in 2019.According to the score of patient health questionnaire-15(PHQ15), they were divided into mild somatization group ( n=75) and moderate severe somatization group ( n=44). Hamilton depression scale-24(HAMD-24), patient health questionnaire-15, Pittsburgh sleep quality index(PSQI) and Montreal cognitive assessment(MoCA) were used to evaluate all subjects.SPSS 23.0 software was used for data analysis.Independent sample t-test was used to compare BMI, sleep and cognitive function scores between the two groups.Pearson correlation analysis was used to study the correlation between somatization symptoms and sleep quality and cognitive function. Results:There were significant differences in BMI((21.70±3.09)kg/m 2, (23.31±3.51)kg/m 2), PSQI((12.56±4.37), (14.37±3.72)), sleep quality(1.87±0.86), (2.21±0.80)), sleep disorder ((1.24±0.59), (1.65±0.53))and daytime dysfunction((2.45±0.81), (2.77±0.48)) between the two groups ( t=-3.783--2.133, all P<0.05), but no difference was found in cognition ( P>0.05). Correlation analysis showed that after controlling HAMD, PHQ-15 was positively correlated with PSQI, sleep quality, sleep disorder, daytime dysfunction and language score in MoCA ( r=0.205-0.298, all P<0.05). Conclusion:The severity of somatization in patients with depression is related to BMI, sleep quality, sleep disorder, daytime dysfunction and language function, suggesting that they may play an important role in the pathogenesis of depression with somatization.
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Objective:To introduce a surgical technique of implant-based immediate breast reconstruction using the "latent orifice" procedure after skin-sparing mastectomy and to investigate the clinical value of this procedure.Methods:Clinical data of 72 patients who underwent immediate breast reconstruction using the "latent orifice" procedure (we placed the silicone prosthesis in a "latent orifice" consisting of fascia and underlying muscles) from Jan. 2016 to Dec. 2019 were collected. Characteristics of surgical technique and the effect of the reconstruction surgery were analyzed.Results:70 patients underwent nipple-areola complex sparing mastectomy (NSM) . Two patients’ nipples were resected due to intraoperative frozen pathology suggesting carcinoma existing in the nipples. The nipple epidermal necrosis occurred in 3 patients. No seroma, incision infection or capsular contracture occurred. According to the evaluation scale, the overall aesthetic score was 9.39 points. The average score of each subscale was: 9.57 points for breast volume, 9.43 for breast contour, 9.84 for placement of implant, 9.38 for scars, 9.27 for lower pole projection and 9.21 for inframammary fold definition. BREAST-Q questionnaires were filled by patients. Scores of psychosocial well-being ranged from 62 to 93 points, with the median score of 77 points. Satisfaction with breasts scores ranged from 58 to 100 points, with the median score of 71 points.Conclusion:The "latent orifice" procedure is a simple, safe, practicable, aesthetic and satisfying type of immediate implant-based breast reconstruction, which is worth practicing and promoting.
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Migraine is the most common type of primary headache with disabling brain dysfunction. The prevalence of the migraine in Chinese population is 9.3%, and the ratio of female to male is 3∶1, which seriously affect people′s quality of life. Depression is one of the most common psychiatric disorders in migraine comorbidity. Compared with non-migraine patients, the risk of depression comorbidity in migraine patients is more than 2.5 times higher. The frequency and severity of migraine are closely related to depressive symptoms. Depressive symptoms have different effects on headache-related pain signal transduction, which is susceptible to neuroendocrine network disorders in the process of transmission from thalamus to cortex. Neuroendocrine network plays an important role in the depression of migraine comorbidity. Therefore, exploring the pathogenesis of neuroendocrine network in comorbidity provides a theoretical basis for screening more suitable depressive drugs for migraine comorbidity.
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Undergraduate tutorial system is progressively rising in many medical colleges of China.We should explore feasible ways in the Chinese context according to our national conditions and teaching characteristics of medical students.Undergraduate tutorial system has been implementing for several years in department of Neurology of Changhai hospital attached to the second military medical college,where the tutor have done preliralnary research on training students1 comprehensive and professional quality and the problems of tutorial system
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Objective To study the effectiveness of Huperzine A,Nimodipine and the combinative utilization to age associated memory impairment(AAMI) and the influence of those to the plasma total antioxidant capacity(TAC) and calcium of platelet.Methods 140 patients with AAMI were randomly divided into 4 groups(35 cases in each group).Huperzine group administrated with Huperzine A 100 ?g thrice a day;Nimodipine group administrated with Nimodipine 30 mg thrice a day;combined group administrated with Huperzine A 100 ?g twice a day and Nimodipine 30 mg thrice a day;control group administrated with Vitamin B6 10 mg thrice a day.All the cases were treated for 6 weeks.Before and after treatment,the memory function were tested by WMS.The levels of plasma TAC and calcium of platelet were also measured at the same time.Results After treatment,the scores of WMS,the levels of plasma TAC and calcium of platelet in Huperzine A group,Nimodipine group and combined group were higher than before treatment and those in control group(all P