Acoustic Stimulation ; Animals ; Corpus Striatum ; physiology ; Estrogens ; metabolism ; Estrus ; physiology ; Evoked Potentials, Auditory ; physiology ; Female ; Rats ; Rats, Sprague-Dawley

Ectopia Cordis ; surgery ; Humans ; Infant, Newborn ; Male

Objective To evaluate the vestibular function in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods Seventeen CADASIL patients were recruited in the present study and 17 healthy volunteers served as control subjects. Electronystagmogram examinations including gaze nystagmus test, spontaneous nystagmus test, saccade test, pursuit test, optokinetic nystagmus test and caloric test were performed in the subjects. Results Neither patients nor controls had gaze nystagmus or spontaneous nystagmus. There was no difference in the latency and velocity of saccade movement between patients and controls. The accuracy of the saccade movement, the accuracy in leftward saccade, was significantly lower in CADASIL group compared with controls. The pursuit movement gains was also significantly lower in CADASIL group than in control group(G_L:0.79±0.08, G_R:0.76±0.12)(t=-3.739、-2.911,P <0.05) compared with controls(G_L:0.87±0.04, G_R:0.86±0.06).The optokinetic nystagmus gains were significantly decreased in CADASIL group(G_L:0.79±0.17,G_R:0.78±0.18)(t=-2.342、-2.335,P<0.05) compared with controls(G_L:0.90±0.08,G_R:0.89±0.09). The caloric test was performed in one CADASIL patient and the result revealed an incomplete fixing inhibition. CADASIL group was further divided into normal subgroup and abnormal subgroup based on the pursuit curve. The comparison between those two subgroups demonstrated a significant correlation between the pursuit movement and the symptoms of vertigo or dizziness(P<0.05). Conclusions The central vestibular function is impaired in CADASIL patients and the abnormal vestibular function is related to the symptom of vertigo or dizziness in CADASIL patients.

The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.

Abstract? AIM: To analyze the ocular manifestations of meningiomas in the trigone of the lateral ventricle, discuss the relevant factors of visual impairment in these patients and things need attention clinically.?METHODS:Retrospectively study on the clinical data of 90 eyes in 45 patients diagnosed of trigonal meningiomas treated at Beijing Tian Tan Hospital from October 2011 to October 2015.Preoperative examinations including visual acuity, optic disc findings, visual field, size of tumors and other change in MRI were analyzed.?RESULTS: Patients'age was 12-68 years old ( mean 41.7 ±13.7 years ). Male/female ratio was 1 ∶4.6. Decreased visual acuity occurred in 18 eyes.Optic disc edema was found in 24 eyes and optic disc pale in 6 eyes. Fourty -seven eyes had visual field defect, mostly homonymous hemianopia or defect. The maximum diameter of tumors was 2.1-9.6cm (4.8±1.7cm).Range of tumor volume was 3.02-193.2cm3(48.3±47.8cm3).A positive correlation of preoperative visual field defect was found with tumor volume, tumor maximum diameter, and brain midline shift respectively. While the preoperative visual field defect was not found any correlation with age, gender, course, and the enlargement of the ventricle and the edema of the tissue around the tumors. After Mann-Whitney U test, the differences on tumor volume, the maximum diameter of tumors, and brain midline shift between the two groups were significant.? CONCLUSION: Patients with trigonal meningiomas often have ocular signs and symptoms.The major reason of visual field defect is the damage of optic radiation around the tumor.The specific position of injured optic radiation determines the type and extent of visual field defect.Both ophthalmologist and neurosurgeon should pay attention to tumors nearby posterior visual pathway. Doing neurophthalmology examinations for these patients and realizing the position between the tumor and posterior visual pathway will be helpful and necessary in surgical planning.

Objective To investigate the value of ADC and FA of diffusion tensor imaging(DTI)and T2 value of T2 mapping for assessing lumbar intervertebral disc degeneration.Methods 12 cases of healthy volunteers(8 males and 4 females),28 cases of patients with chronic low back pain(15 males and 13 females,19-70 years old)were performed lumbar spine MRI,DTI and T2 mapping to obtain ADC,FA and T2 value.Intervertebral discs were classified according to the Pfirrmann grading.The correlations of different degeneration grade with ADC,FA and T2 value were analyzed.The diagnostic value of ADC,FA and T2 values of lumbar intervertebral disc degeneration were compared. Results Both ADC value and T2 value were significantly negative correlated with lumbar intervertebral disc degeneratic Pfirrminn grading(r=-0.779,r=-0.708,P<0.001).FA value were positively correlated with Pfirrminn grading(r=0.474,P<0.001), the correlation was not closely.Conclusion DTI and T2 mapping can be effectively used to quantitatively evaluate the degeneration degree of lumbar intervertebral disc,the diagnostic value of ADC was the highest,followed by T2 ,and FA was the worst.

Objective To study the influence of pre-injection of donor apoptotic cells in the survival of islet grafts and the function of T lymphocytes in the peripheral blood. Methods The donor apoptotic cells and necrotic cells were ob-tained respectively by X-irradiation from electron linear accelerator and a heat-shock procedure (water bath box 56℃, 1 h). The diabetic rats for islet transplantation (n=42) were induced by a single intraperitoneal injection of streptozotocin (STZ), then were randomly divided into four groups:rats were injected by physiological saline group (n=9), normal cells group (n=12), apoptotic donor cell group (n=12) and necrotic donor cell group (n=9). On the seventh day, each group received islet transplantation under the renal capsule. The blood glucose level was detected to reflect the survival of the islets. The periph-eral blood samples of three rats in each group were obtained at different observation times. The proliferative activity of T lym-phocytes was determined by MTT method. The levels of cytokines interferon (IFN)-γ, interleukin (IL)-10 in peripheral blood were measured by Luminex 100 Integrated System, and transforming growth factor (TGF)-β1 by ELISA respectively at 0 d, 1 week, 2 weeks and after rejection. Results The survival time of islets was significantly prolonged by the pre-intervention of apoptotic cells, and the proliferative activity of T lymphocytes stimulated by ConA was inhibited. Meanwhile, the extent of the increased level of IFN-γwas inhibited significantly at 1 week and 2 weeks after transplantation (P<0.05), the levels of IL-10 and TGF-β1 were significantly increased before transplantation, 1 week and 2 weeks after transplantation (P<0.05). Conclusion Our results demonstrated that the pre-treatment of donor apoptotic cells can regulate the recipient’s immune reactive state by inhibiting the proliferative activity of T lymphocytes and changing the levels of cytokines from different sub-sets of T lymphocytes, and finally resulted in the prolonging of the survival of islet grafts.

Objective To explore the effect of problem-based learning method in traditional Chinese internal medicine teaching. Methods 58 students enrolled in the major of integrated traditional Chinese and western medicine in class C at the Beijing University of Chinese medicine were arranged to receive PBL(test group)or traditional teaching methods(control group)in 2 courses and complete 116 questionnaires. The teaching outcomes were evaluated by questionnaire and individual interviews. Results Compared with controls,students receiving PBL performed significantly better in terms of active classroom atmosphere, broadening their knowledge, and improving teamwork ability(χ2 were 7.16, 4.07, 4.09, P<0.05). Conclusion The PBL strategy has the advantage than the traditional teaching methods in traditional Chinese internal medicine teaching.

Objective To study the relationship between anti-transcription intermediary factor 1 family proteins (TIF1) autoantibodies profiles and cancer-associated dermatomyositis (CAM) and to define the diagnostic value of different subtypes of anti-TIF1 aotuantibodies for CAM.Methods The sera from 156 patients with dermatomyositis (DM),55 with polymyositis (PM),70 with systemic lupus erythematosus (SLE),60 with rheumatoid arthritis (RA),46 with primary Sj(o)gren syndrome (pSS),14 with systemic sclerosis (SSc),49 with kinds of malignancies and 40 healthy subjects were examined by immunoprecipitation assays followed by western blotting.Statistical analysis were performed using ANOVA,t test Mann-Wittney U and x2 test or Fisher exact test,nonparametric method was used to evaluate the sensitivity and specificity through calculating the area under the receiver operating characteristic curve (ROC).Results In summary,32 of 156 sera from patients with DM (20.5％) were positive for at least one anti-TIF1 autoantibodies.There are four subtypes of anti-TIF1 autoantibodies profiles existed in patients with DM,including 4 patients with only positive anti-TIF1-α (12.5％),20 with only positive anti-TIF1-γ (62.5％),7 with both positive anti-TIF1-α and anti-TIF1-γ (21.9％) and 1 with both positive anti-TIF1-β and anti-TIF1-γ (3.1％).However,only positive anti-TIF1-α (7.3％) was observed in 4 patients with PM.No patients with other CTDs as well as malignancy and healthy subjects were positive for these autoantibodies.The sensitivity and specificity of presence of anti-TIF1-α antibodies for the diagnosis of CAM were 42.9％ and 96.5％,respectively and those of anti-TIF1-β antibodies were 0 and 99.3％,respectively and those of anti-TIF-1-γ antibodies were 64.3％ and 86.6％,respectively.Application of areas of ROC to identify the best performance of test of anti-TIF1 antibodies profiles were 0.70,0.50,0.76,0.74 and 0.71,respectively.Conclusion Joint detection of antiTIF1 autoantibodies profiles can improve the diagnostic capbility for CAM.