Objective To explore the clinical characteristics of hereditary spastic paraplegia with thin corpus callosum(HSP TCC).Methods Clinical data of 4 patients with HSP TCC were analysed retrospectively.Results 4 patients were at the onset during youngsters,they revealed mental impairment,walk of spasticity,spasticity of the lower extremities,slowly progressive weakness and hyperreflexia, extensor plantar responses and morbid indication for positive. Sensory impairment was not observed. 2 cases showed ataxia and sphincter disturbance;1 case showed upper limb spasticity and muscular atrophy. Cranial MRI revealed an extremely thin corpus callosum on sagittal image.Conclusion Main clinical characterizations of HSP TCC were slowly progressive spastic paraparesis, mental impairment during youngsters, cranial MRI showed extremely thin corpus callosum.

Objective To explore the clinical features of juvenile Parkinson's disease(PD).Methods The clinical materials in 28 patients with juvenile Parkinsonism were analysed retrospectively.Results Among the 28 cases, 5 patients from 3 families had familial history and presented autosomal recessive inheritance(AR-JP).The sympotoms of the parkinsonian triad were mild and unsymmetric.The disease progressed slowly.Hyperreflexia and diurnal fluctuation of sympotoms were often seen in these patients,but brain CT and MRI were often nomal.Response to levodopa was satisfactory,but dopa-induced motor fluctuations occurred early. In contrast to sporadic juvenile PD,AR-JP tended to have earlier age of onset( 20.6?5.68 years),longer duration of progression of parkinsonian signs and symptoms( 9.5?5.77 years),more frequent presence of hyperreglexia and diural fluctuation,and more frequent appearance of dopa-related motor fluctuations.Conclusion The clinical features of patients with juvenile PD are peculiar and juvenile PD may be an independent disease entity.AR-JP is different from sporadic juvenile PD,which suggests that there may be different pathogenesis between these two subtypes.

Osteoporosis complicated with fracture is a common and severe condition. This paper summarizes present advances and new concepts in its treatment. Since the secondary osteoporosis will likely develop after fracture treatment with immobilization, more and more bone mass will get lost in addition to primary osteoporosis. A vicious cycle will be established and influence the fracture healing. Therefore, the key to the treatment is to block the vicious cycle to stop or decrease the bone loss. As a routine measure, to do exercises and weight- bearing activities as early as possible is as important as to take medicines for osteoporosis treatment. Stable internal fixation and prosthetic replacement should be firstly chosen for treatment of most fractures. In drug treatment, calcitonin, bisphosphonate (alendronate), HRT (Livial), vitamins D2 and D3, and calcium are indicated.

Objective: To explore the effect of voluntary teaching for medical students on cardio-pulmonary resuscitation training for middle school students,and to provide a reference for education of first aid among primary and middle school students. Methods: A total of 196 students from four classes in the first grade of a middle school were selected by convenient sampling method and divided into experimental group and control group according to the class. After the two groups of students were trained in unified theory, the students in the control group were trained by the medical staff in the hospital, and the students in the experimental group were trained by the volunteers of the medical students who had been strictly trained and assessed. After the training was finished, questionnaires were sent out to investigate the effect of training. Results: Before the training, there was no significant difference in the theoretical scores between the two groups (t=1.18，P=0.24). After training, the theoretical and skill scores of the experimental group were(11.43±1.53)(5.68±1.80), that of the control group were(11.35±1.77)(5.30±1.76), and there was no significant difference between the experimental group and the control group(t=0.34，1.48，P>0.05). Conclusion The application of voluntary teaching in the training of middle school students’ cardiopulmonary resuscitation can improve the popularization rate of cardiopulmonary resuscitation, save medical resources effectively, and improve the practical ability of medical students.

Hyperhomocysteinemia (HHcy) is considered to be an independent risk factor for cardiovascular diseases, but the molecular mechanisms underlying its pathogenesis are not fully understood. Endothelial dysfunction is a key initiating factor in the pathogenesis of atherosclerosis, which is commonly observed in almost all HHcy-induced vascular diseases. HHcy promotes oxidative stress, inhibits nitric oxide production, suppresses hydrogen sulfide signaling pathway, promotes endothelial mesenchymal transition, activates coagulation pathways, and promotes protein N-homocysteination and cellular hypomethylation, all of which can cause endothelial dysfunction. This article reviews the specific links between HHcy and endothelial dysfunction, and highlights recent evidence that endothelial mesenchymal transition contributes to HHcy-induced vascular damage, with a hope to provide new ideas for the clinical treatment of HHcy-related vascular diseases.
Humans ; Atherosclerosis ; Cardiovascular Diseases ; Endothelium, Vascular ; Homocysteine/metabolism* ; Hyperhomocysteinemia/complications* ; Oxidative Stress ; Risk Factors

Angelicae Sinensis Radix, as a medicinal and edible Chinese medicinal herb, is widely used in clinical practice. It is mainly cultivated in Minxian, Tanchang, Zhangxian and Weiyuan counties of Gansu province. In recent years, with the comprehensive and in-depth study of Angelicae Sinensis Radix in China and abroad, its chemical composition, pharmacological effects and application and development have attracted much attention. In this study, the chemical composition, traditional efficacy, and modern pharmacological effects of Angelicae Sinensis Radix were summarized. On this basis, combined with the core concept of quality markers(Q-markers), the Q-markers of Angelicae Sinensis Radix were discussed from the aspects of mass transfer and traceability and chemical composition specificity, availability, and measurability, which provided scientific basis for the quality evaluation of Angelicae Sinensis Radix.
Angelica sinensis/chemistry* ; Drugs, Chinese Herbal/pharmacology* ; Plant Roots/chemistry* ; China

Objective: To observe the platinum drugs resistance effect of N-acetyltransferase 10 (NAT10) overexpression in breast cancer cell line and elucidate the underlining mechanisms. Methods: The experiment was divided into wild-type (MCF-7 wild-type cells without any treatment) group, NAT10 overexpression group (H-NAT10 plasmid transfected into MCF-7 cells) and NAT10 knockdown group (SH-NAT10 plasmid transfected into MCF-7 cells). The invasion was detected by Transwell array, the interaction between NAT10 and PARP1 was detected by co-immunoprecipitation. The impact of NAT10 overexpression or knockdown on the acetylation level of PARP1 and its half-life was also determined. Immunostaining and IP array were used to detect the recruitment of DNA damage repair protein by acetylated PARP1. Flow cytometry was used to detect the cell apoptosis. Results: Transwell invasion assay showed that the number of cell invasion was 483.00±46.90 in the NAT10 overexpression group, 469.00±40.50 in the NAT10 knockdown group, and 445.00±35.50 in the MCF-7 wild-type cells, and the differences were not statistically significant (P>0.05). In the presence of 10 μmol/L oxaliplatin, the number of cell invasion was 502.00±45.60 in the NAT10 overexpression group and 105.00±20.50 in the NAT10 knockdown group, both statistically significant (P<0.05) compared with 219.00±31.50 in wild-type cells. In the presence of 10 μmol/L oxaliplatin, NAT10 overexpression enhanced the binding of PARP1 to NAT10 compared with wild-type cells, whereas the use of the NAT10 inhibitor Remodelin inhibited the mutual binding of the two. Overexpression of NAT10 induced PARP1 acetylation followed by increased PARP1 binding to XRCC1, and knockdown of NAT10 expression reduced PARP1 binding to XRCC1. Overexpression of NAT10 enhanced PARP1 binding to LIG3, while knockdown of NAT10 expression decreased PARP1 binding to LIG3. In 10 μmol/L oxaliplatin-treated cells, the γH2AX expression level was 0.38±0.02 in NAT10 overexpressing cells and 1.36±0.15 in NAT10 knockdown cells, both statistically significant (P<0.05) compared with 1.00±0.00 in wild-type cells. In 10 μmol/L oxaliplatin treated cells, the apoptosis rate was (6.54±0.68)% in the NAT10 overexpression group and (12.98±2.54)% in the NAT10 knockdown group, both of which were statistically significant (P<0.05) compared with (9.67±0.37)% in wild-type cells. Conclusion: NAT10 overexpression enhances the binding of NAT10 to PARP1 and promotes the acetylation of PARP1, which in turn prolongs the half-life of PARP1, thus enhancing PARP1 recruitment of DNA damage repair related proteins to the damage sites, promoting DNA damage repair and ultimately the survival of breast cancer cells.
Breast Neoplasms/enzymology* ; Cell Line, Tumor ; Drug Resistance, Neoplasm ; Female ; Humans ; MCF-7 Cells ; N-Terminal Acetyltransferases/metabolism* ; Organoplatinum Compounds/pharmacology* ; Oxaliplatin/pharmacology* ; X-ray Repair Cross Complementing Protein 1

OBJECTIVE: To investigate the effect of sulforaphane (SFN) on G METHODS: KG1a and KG1cells were treated by different concentrations of SFN for 48 h. Flow cytometry (FCM) was used to analyze the phase distribution of cell cycle. High-throughput sequencing was used to detect the effect of SFN on the expression of cell cycle related genes in KG1a cells. The mRNA expression of P53, P21, CDC2 and CyclinB1 were detected by qPCR. The protein expression of P53, CDC2, P-CDC2 and CyclinB1 were detected by Western blot. RESULTS: Cells in the G CONCLUSION SFN induces leukemia cells to block in G
Cell Cycle ; Humans ; Isothiocyanates/pharmacology* ; Leukemia, Myeloid, Acute ; Mitosis ; Sulfoxides

To study the pathological mechanisms of Niemann-Pick disease type C1, we observed the changes of activation of glial cells in the olfactory bulb of Npc1 mutant (Npc1(-/-)) mice. The genomic DNA was extracted from mouse tails for genotyping by PCR. Immunofluorescent histochemistry was performed to examine the activation of microglia and astrocytes in the olfactory bulb of Npc1(-/-) mice on postnatal day 30. NeuN, phosphorylated neurofilament (NF), Doublecortin (DCX), CD68 and GFAP were detected by Western blot. The results showed that Npc1 gene mutation strongly increased the activation of astrocytes and microglia in olfactory bulb associated with increased protein levels of CD68 and GFAP. Furthermore, the expression of phosphorylated NF was also significantly increased in the olfactory bulb of Npc1(-/-) mice compared with that in Npc1(+/+) mice. However, DCX expression was significantly reduced. The above results suggest that there are some early changes in the olfactory bulb of Npc1(-/-) mice.
Animals ; Astrocytes ; Axons ; Genotype ; Mice ; Mice, Knockout ; Microglia ; Neuroglia ; Niemann-Pick Disease, Type C ; Olfactory Bulb ; Phosphorylation

OBJECTIVE: To investigate the clinical characteristics and prognostic factors of primary follicular lymphoma (FL) patients with grade 3 or large B cell transformation, so as to provide more reference for the subsequent clinical diagnosis and treatment. METHODS: Forty-seven primary FL patients with grade 3 or large B cell transformation from March 2010 to March 2018 were selected, the clinical characteristics and survival of patients were analyzed. Cox regression model were used to evaluate the related prognostic factors. RESULTS: The cumulative progression-free survival rate and cumulative overall survival rate of 47 patients in 3-year follow-up reached to 55.32% (26/47) and 80.85% (38/47) respectively. There were significant differences in cumulative progression-free survival rate and cumulative overall survival rate among different subgroups of IPI, FLIPI-1 and FLIPI-2 in 3-year follow-up (P<0.05). The cumulative progression-free survival rate during follow-up for 3-year in the patients with Ann Arbor staging for III-IV stage, lymph node-involved site≥5, lymph node-involved site with diameter more than 3 cm≥3 and extranodal lesions≥3 was significantly lower than other subgroups (P<0.05). The cumulative overall survival rate in 3-year follow-up of patients with LDH levels≥240 U/ml was significantly lower than patients with LDH levels < 240 U/ml (P<0.05). Univariate analysis showed that Ann Arbor stage for III-IV, lymph node-involved site number≥5, >3 cm lymph node-involved site number≥3, extranodal lesion site number≥2, IPI score=2-3, FLIPI-1 score and FLIPI-2 score≥3 were the risk factors for progression-free survival (P<0.05); LDH≥240 U/ml, IPI score=2-3 and FLIPI-2 score≥3 were risk factors for overall survival (P<0.05). Cox regression model multivariate analysis showed that IPI score=2-3 was the independent risk factor for progression-free survival and overall survival (P<0.05). FLIPI-2 score≥3 was the independent risk factor for overall survival (P<0.05). CONCLUSION Primary FL patients with grade 3 or large B cell transformation by using the existing treatment regimen might be possibly curable, and the current treatment strategies and IPI score can be used to predict the clinical prognosis of patients.
B-Lymphocytes ; Disease-Free Survival ; Humans ; Lymphoma, Follicular ; Prognosis ; Retrospective Studies ; Risk Factors ; Survival Rate