Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.@*METHODS@#The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members.@*RESULTS@#The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29.@*CONCLUSION@#The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.

Efficacy of Pinggan Yuyin Qingre Recipe for Treatment of Hyperevaporative Dry Eye Disease Caused by Meibomian Gland Dysfunction / 中国实验方剂学杂志

Objective:To observe the therapeutical effect and the safety of Pinggan Yuyin Qingre recipe on the hyperevaporative dry eye disease （Yin deficiency and Yang hyperactivity type） caused by the meibomian gland dysfunction（MGD）. Method:The 120 Consecutive outpatients who met the criteria were included in the trial and divided into three layers （mild， moderate and severe） according to the meibomian gland function classification （grade 1-3）. The patients in each layer were randomly assigned to the experiment group and the control group at a ratio of 1∶1. Both groups were treated with sodium hyaluronate eye drops， 1 drop/eye/time， 3 times a day. In the experiment group， Pinggan Yuyin Qingre recipe was additionally prescribed two times a day. The treatment course was 8 weeks in both groups. All patients were evaluated at the beginning and end of the study mainly for noninvasive tear breakup time （NITBUT），corneal lesions score，meibomian gland exclusion score，meibomian gland structure，eye symptom score，the ocular surface disease index（OSDI） score，and the traditional Chinese medicine（TCM） syndrome scores at both overall and layered levels. Result:A total of 116 cases completed the study，with 1 drop-out case and 3 eliminated cases. Both before and after treatment，NITBUT，the corneal lesions score，the symptom score，and the OSDI score in the experiment group were significantly superior to the control group， but there was no significant difference in meibomian gland exclusion score between two groups，only with a superior tendency in experiment group. There were significant differences in the scores of the related TCM syndrome scores between two groups after treatment. There were no adverse reactions， no abnormal changes in electro cardiogram （ECG） or liver and kidney functions in all patients. Conclusion:Pinggan Yuyin Qingre recipe can effectively improve the hyperevaporative dry eye disease caused by meibomian gland dysfunction， the tear film stability，eye dryness， burning，itching，foreign body sensation and TCM symptoms of patients with dry eye syndrome of Yin deficiency and Yang hyperactivity. The improvement effect is more obvious in moderate and severe patients. It is an effective，safe，and well-tolerated treatment for the hyperevaporative dry eye.

Spontaneous intracranial hypotension complicated with cerebral venous thrombosis and spinal epidural hematoma: a case report / 中华神经科杂志

Spontaneous intracranial hypotension patients may have complications, such as cerebral venous thrombosis and intracranial subdural hematoma, while complicating with spinal epidural hematoma is rarely reported. A spontaneous intracranial hypotension patient, who started with orthostatic headache, followed by cerebral venous thrombosis , manifested as seizure, status epilepticus, and parenchymal hemorrhage, was admitted to Sir Run Run Shaw Hospital. Spinal evaluation showed lumbar epidural hematoma, without spinal cord compression symptoms. The patient improved with bed rest, fluid infusion, antiepileptic drug, and anticoagulation therapy. Three weeks after discharge, headache recurred without complete remission after lying flat. Cranial neuroimaging showed bilateral subdural hematoma. Anticoagulation was ceased. Subdural hematoma absorbed after treated with two epidural blood patches. The patient was headache-free during follow-up.

Mechanism research about the role of microbleeds for early cognitive impairment in small vascular disease / 上海交通大学学报（医学版）

Objective·To make clear the role of cerebral microbleeds (CMBs) for early cognitive impairment in small vessel disease (SVD). Methods·Fifty-seven consecutive SVD patients without dementia were strictly recruited. All participants were examined with a comprehensive battery of neuropsychological tests, SWI and DTI. According to the amount of CMBs, the patients were divided into CMBs group and non-CMBs group, or divided into multiple CMBs group (CMBs ≥ 3) and non-multiple CMBs group (CMBs<3). The mean diffusivity (MD) and fractional anisotropy (FA) in periventricular, central semiovale and subcortical white matter was analyzed with a region-of-interest method. Results·The score of multiple CMBs group in attention and memory function was significantly lower than that of the non-multiple CMBs group. Correlation analysis showed that the count of CMBs in the whole brain was significantly correlated with periventricular white matter MD, subcortical white matter MD, periventricular white matter FA and subcortical white matter FA. The count of CMBs in the whole brain adjusted by age, gender, education was significantly correlated with attention/executive function. After adjustment of subcortical/ periventricular white matter FA and MD and locations of CMBs they still had significant correlation. Conclusion·CMBs can reflect the degree of destruction of white matter integrity, and have independent effects on injury of brain parenchyma, resulting in early cognitive impairment. The research also suggests the role of CMBs in cognitive impairment may exist threshold value effect.

Application of aggameline in the treatment of depressive disorder and its effect evaluation / 中国生化药物杂志

Objective To explore the application and effect of aggameline in the treatment of depression. Methods 150 patients with depression treated in our hospital from January 2015 to December 2016 were randomly divided into three groups: A, B and C, 50 cases in each group. Group A was treated with rosiglitamine, group B was treated with venlafaxine, group C was treated with paroxetine. The improvement of symptoms before and after treatment in the three groups was observed[ (Hamilton Depression Scale (HAMD), Hamilton Anxiety Scale (HAMA)], Sleep Quality [Pittsburgh Sleep Quality Index (PSQI), Sleep Self-Rating Scale (SRSS)] and cognition Function [repeat sets of neuropsychological state test (RBANS), connection test (TMT)], and adverse drug reactions were recorded. Results After four weeks of treatment, the scores of HAMD and HAMA in the three groups were lower than those before treatment (P<0.05). The results of HAMD score showed that group B (P<0.05), but there was no significant difference between group A and group C. After treatment for four weeks, the scores of PSQI and SRSS were lower than those before treatment (P<0.05). There was no significant difference between group A and group B (P<0.05). After treatment, the scores of RBANS were higher than those before treatment (P<0.05), and delayed memory, attention to the two groups in group B> group C (P<0.05), There was no significant difference between the two groups in immediate memory; there was no statistically significant difference between the three groups after treatment and speech and visual acuity scores. After 4 weeks of treatment, the time to connect and connect sequentially was shorter than that before treatment (P<0.05), and the order of alternating time showed that group A<group B<group C (P<0.05), the order of alternating connection time showed that group A< group B and group C (P<0.05), but there was no significant difference in the order of alternating connection time between group B and group C. The incidence of adverse reactions in group A was lower than that in group B and C (P<0.05),but there was no significant difference between group B and group C. Conclusion Aggameline is effective in treating depression and has high safety and considerable clinical value.

Application of aggameline in the treatment of depressive disorder and its effect evaluation / 中国生化药物杂志

Objective To explore the application and effect of aggameline in the treatment of depression. Methods 150 patients with depression treated in our hospital from January 2015 to December 2016 were randomly divided into three groups: A, B and C, 50 cases in each group. Group A was treated with rosiglitamine, group B was treated with venlafaxine, group C was treated with paroxetine. The improvement of symptoms before and after treatment in the three groups was observed[ (Hamilton Depression Scale (HAMD), Hamilton Anxiety Scale (HAMA)], Sleep Quality [Pittsburgh Sleep Quality Index (PSQI), Sleep Self-Rating Scale (SRSS)] and cognition Function [repeat sets of neuropsychological state test (RBANS), connection test (TMT)], and adverse drug reactions were recorded. Results After four weeks of treatment, the scores of HAMD and HAMA in the three groups were lower than those before treatment (P<0.05). The results of HAMD score showed that group B (P<0.05), but there was no significant difference between group A and group C. After treatment for four weeks, the scores of PSQI and SRSS were lower than those before treatment (P<0.05). There was no significant difference between group A and group B (P<0.05). After treatment, the scores of RBANS were higher than those before treatment (P<0.05), and delayed memory, attention to the two groups in group B> group C (P<0.05), There was no significant difference between the two groups in immediate memory; there was no statistically significant difference between the three groups after treatment and speech and visual acuity scores. After 4 weeks of treatment, the time to connect and connect sequentially was shorter than that before treatment (P<0.05), and the order of alternating time showed that group A<group B<group C (P<0.05), the order of alternating connection time showed that group A< group B and group C (P<0.05), but there was no significant difference in the order of alternating connection time between group B and group C. The incidence of adverse reactions in group A was lower than that in group B and C (P<0.05),but there was no significant difference between group B and group C. Conclusion Aggameline is effective in treating depression and has high safety and considerable clinical value.

The role of combination of traditional Chinese and western medicine on severe allergic rhinitis / 国际中医中药杂志

Objective To explore the effects of combination of traditional Chinese medicine (TCM)and western medicine on a variety of allergen induced severe perennial seasonal allergic rhinitis patients who were treated invalidly with antihistamines and intranasal flixonase for more than two years.Methods 16 patients with moderate to severe allergic rhinitis who were uncontrolled with antihistamines and intranasal flixonase for one week were treated by combination with TCM of Xin-Yi-Qing-fei San or Gyokubeifu-san mixed formula for two weeks.Nasal symptoms,its effects on the quality of daily life,and telephone follow-up half a year later were evaluated.Mini Rhinoconjunctivitis Quality of Life Questionnaire (Mini-RQLQ) and Nocturnal Rhinoconjunctivitis Quality of Life Questionnaire (NRQLQ) were used to evaluate the quality of life.Results After 2 weeks combination-treatment,the nasal symptoms of congestion,rhinorrhea,sneezing,nasal itching,and nasal obstruction were significantly improved compared with combination-before [(52.0± 11.1)％,(69.1±5.3)％,(68.3±12.3)％,(55.5±10.0)％to (10.9±2.4)％,(8.9±3.2)％,(12.5±4.3)％,(13.2±5.3)％,respectively].The before and after treatment of nasal function of nasal minimum cross-sectional area (MCA),nasal cavity volume (V5) and nasal airway resistance (R75 and R150) respectively were (0.58±0.12)cm2,(0.38 ± 0.23) Pa/cm3 · s-1,(0.44 ± 0.32) Pa/cm3 · s-1,(3.50 ± 2.33) cm2 to (0.48 ± 0.23) cm2,(0.31 ±0.33) Pa/cm3 · s-1,(0.31 ±0.37)Pa/cm3 · s-1,(2.24± 1.03) cm2 (P＜0.01).In addition,findings of patients with nasal symptoms by half year follow-up were significantly better than those of before.Conclusion The interventionof TCM can effectively control the perennial and seasonal severe symptoms of patients with AR,and improve the quality of life of patients.

Hammerhead ribozyme-mediated cleavage of transforming growth factor beta1 RNA in a cell-free system and in hepatic stellate cells / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To identify the activity of hammerhead ribozyme against transforming growth factor beta1 (TGFbeta1) in a cell-free system and in activated hepatic stellate cells (HSCs).</p><p><b>METHODS</b>The ribozyme against TGFb1 was designed with computer software. The transcripts of ribozyme, disabled ribozyme and target RNAs were prepared using the RiboMAX large scale RNA production system. The in vitro cleavage reactions were performed through incubation of 32P-labeled target RNAs with ribozyme or disabled ribozyme in different conditions. The eukaryotic expression vector encoding ribozyme and disabled ribozyme were constructed, and then transfected into HSC-T6 cells which exhibited characteristics of activated HSCs. The intracellular activity of the ribozyme was determined by detecting the ribozyme, disabled ribozyme and the TGFbeta1 expression.</p><p><b>RESULTS</b>The ribozyme cleaved target RNAs into anticipated products effectively. As expected, the disabled ribozyme possessed no cleavage activity in vitro. Further study demonstrated that the ribozyme expressed efficiently and inhibited TGFbeta1 expression in activated HSCs, while the disabled ribozyme displayed only a slight effect on TGFbeta1 expression.</p><p><b>CONCLUSION</b>The ribozyme with perfect cleavage activity in the cell-free system used inhibited TGFbeta1 expression effectively in activated HSCs. This ribozyme can provide a potential therapeutic approach for liver fibrosis.</p>

Inhibitory effect of YC-1 on induction of VEGF and GPI genes in hypoxic human pancreatic cancer cells / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the function and mechanism of 3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole (YC-1) on activity of VEGF and GPI genes in human pancreatic cancer PC-3 cells incubated under hypoxic conditions.</p><p><b>METHODS</b>Human pancreatic cancer PC-3 cells were incubated under hypoxic culture conditions. Immunocytochemical staining was used to detect HIF-1alpha protein expression in hypoxic and normoxic PC-3 cells. Semi-quantitative RT-PCR was used to detect the effect of YC-1 on the expression of VEGF and GPI mRNA and HIF-1alpha protein in PC-3 cells. Effect of YC-1 on the expression of HIF-1alpha protein was examined by Western blotting. MTF assay was used to detect proliferation of hypoxicPC-3 cells.</p><p><b>RESULTS</b>HIF-1alpha expression was mainly located in nuclei in hypoxic PC-3 cells. The mRNA synthesis of VEGF and GPI and the protein expression of HIF-1alpha were significantly decreased in the group treated with the highest concentration of YC-1 (100 micromol/L). Compared to placebo, YC-1 inhibited the proliferation of hypoxic PC-3 cells greatly when it was increased to 100 micromol/L.</p><p><b>CONCLUSION</b>YC-1 inhibited the transcription of VEGF and GPI in hypoxic human pancreatic cancer PC-3 cells. It was induced by down-regulation of HIF-1alpha protein. YC-1 inhibites the proliferation of PC-3 cells exposed to hypoxic conditions.</p>

Experience of veteran TCM doctor KONG Si-bo in treating optical disease / 中华中医药杂志

Objective: To study and discuss the experience veteran TCM doctor KONG Si-bo in treating optical disease. Methods: To analyze the academic thoughts of KONG Si-Bo from four aspects: theory, method, formula and herbs. Results: According to differentiation of syndrome, KONG Si-bo emphasized on the entirety and treating according to three categories of disease causes. He thought that on the base of traditional eight principle differentiation, yin and yang played a more important role in differentiation. In treatment aspect, he prefered to eliminating stagnation, especially eliminating liver stagnation. As for herbs, he liked using Shigao to clear heat, and had lots of gains from learning about herbs of expelling wind, regulating qi, dissipating stasis, invigoration. Conclusions: The experience of expert KONG Si-bo in treating optical disease deserved researching and learning by other doctors.