Clinical and genetic analysis of a pedigree of Kennedy disease / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To review the clinical and genetic features of a pedigree of Kennedy disease in China.</p><p><b>METHODS</b>The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.</p><p><b>RESULTS</b>In the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.</p><p><b>CONCLUSION</b>Androgen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.</p>

Research advances on associated genes and pathogenesis of hydrocephalus / 浙江大学学报·医学版

Hydrocephalus is a common medical condition characterized by abnormalities in the secretion,circulation or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. The pathogenetic mechanism for the hydrocephalus is attributed to: the overproduction of CSF by the choroid plexus; the defect in CSF absorption and obstruction of CSF flow in the cerebral ventricles. However, the underlying etiology is poorly understood. With the development of genetic engineering, a growing body of evidence indicates that genetic factors play an essential role in the pathogenesis of hydrocephalus. It is the aim of this review to summarize these findings.

Experimental study of directional differentiation of bone mesenchymal stem cells (BMSCs) to osteoblasts guided by serum containing cistanche deserticola / 中国骨伤

<p><b>OBJECTIVE</b>To study directional differentiation of BMSCs guided by Desert living Cistanche (Herba Cistanches) which invigorates the kidney.</p><p><b>METHODS</b>Primary BMSCs were obtained by whole bone marrow culture and subcultured to the fourth generation by trypsin digestion, and than inoculated into two six-well plates at 5 x 10(6) cells per milliliter, all the plates were divided into three groups as blank group, Dexamethasone (DXM) group and Herba Cistanches group, three wells in each group, medium were changed at day 2. The blank group were changed with L-DMEM containing 10% FBS. The DXM group were changed with medium containing 10 mmol/L beta-sodium glycerophosphate, 0.1 micromol/L DXM and 50 mg/L vitamin C. The Herba Cistanches group were changed with medium containing 10% blood serum containing Herba Cistanches and L-DMEM. One of the six-well plates was stained by alkaline phosphatase (AKP) at the tenth day,the other one was stained by alizarin Bordeaux at the twentieth day.</p><p><b>RESULTS</b>At the tenth day DXM group and Herba Cistanches group were ALKP stained positive; from the 12th day,white calcium nodus could be seen at the surface of the wells; which alizarin stained positive by the twentyth day.</p><p><b>CONCLUSION</b>The medium containing Herba Cistanches can guide BMSCs to differentiate into osteoblast, which promises a favorable prospect for the treatment of osteoporosis and bone fracture disunion.</p>

Mouse stroke models and strains-related differences in susceptibility to cerebral ischemia / 浙江大学学报·医学版

Mouse stroke models provide experiment basis for study of the mechanisms of cell death and neural repair, and the neuroprotective effect of new drugs. There are at least three models of middle cerebral artery occlusion (MCAO) routinely used in experimental study. These models vary widely in their application in study of cell death or neural repair, and simulation of human diseases. This review article is focused on the characteristics of three mouse MCAO models and the strains-related differences in susceptibility to cerebral ischemia.

Cathepsin S in pathogenesis of neurological diseases / 浙江大学学报·医学版

Cathepsin S, one of the lysosomal proteinases, has many important physiological functions in the nervous system, especially in process of extracellular matrix degradation and endocellular antigen presentation. Those functions are closely associated with the pathogenesis of various neurological diseases. It would be beneficial to elucidate the role of Cathepsin S in the pathogenesis of various neurological diseases.

Carotid angioplasty and stenting in patients with high-risk carotid stenosis / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the efficacy and complication of carotid angioplasty and stenting (CAS) in patients with high-risk carotid stenosis.</p><p><b>METHODS</b>Eight cases with high-risk carotid stenosis underwent CAS with cerebral protective devices from March 2003 to April 2006, the efficacy and complications of CAS were reviewed.</p><p><b>RESULT</b>Nine stenotic carotid arteries of 8 cases were treated with CAS. Stenotic rate was significantly reduced from 75.4 % to 28.8% (P<0.001, paired t-Test) immediately after CAS. All stents used were self-expanding and most of them (77.8%) were precise nitinol stents. Five patients had mild and reversible low heart rate and blood pressure. During follow-up for 4-41 months (21.5+/-14.2), no case had stroke again, all except one had no dizziness or vertigo again. Ultrasonography and/or computed tomographic angiography showed no re-stenosis in six cases (75%) when they were followed up.</p><p><b>CONCLUSION</b>CAS with cerebral protection device is a safe and feasible procedure to treat high-risk carotid stenosis. However,its long-term efficacy and safety need to be further studied.</p>

Lance-Adams syndrome: a report of two cases / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Chronic post-hypoxic myoclonus, also known as Lance-Adams syndrome (LAS), is a rare complication of successful cardiopulmanry resuscitation often accompanied by action myoclonus and cerebellar ataxia. It is seen in patients who have undergone a cardiorespiratory arrest, regained consciousness afterwards, and then developed myoclonus days or weeks after the event. Worldwide, 122 cases have been reported in the literature so far, including 1 case of Chinese. Here we report 2 Chinese LAS patients with detailed neuroimagings. Cranial single photon emission computed tomography (SPECT) of patient 1, a 52-year-old woman, showed a mild hypoperfusion in her left temporal lobe, whereas patient 2, a 54-year-old woman, manifested a mild bilateral decrease of glucose metabolism in the frontal lobes and a mild to moderate decrease of the N-acetyl aspartate (NAA) peak in the bilateral hippocampi by cranial [(18)F]-fluorodeoxyglucose positron emission tomographic (PET) scan and cranial magnetic resonance spectroscopy (MRS), respectively. We also review the literature on the neuroimaging, pathogenesis, and treatment of LAS.

Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome.

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesions that did not conform to accepted distributions of vascular territories on cranial magnetic resonance imaging (MRI), normal result of cranial magnetic resonance angiography, hyperintensity on diffusion weighted MRI and apparent diffusion coefficient mapping indicating the presence of vasogenic edema in the fresh stroke-like lesion, and mitochondrial DNA analysis helped to exclude the diagnosis of ischemic cerebral infarction which can also be induced by chickenpox.

Clinical study on Zhuyu Tongfu serial recipe combined with acupuncture and massotherapy in treating hypertensive cerebral hemorrhage / 中国结合医学杂志

<p><b>OBJECTIVE</b>To observe the clinical efficacy and mechanism of Zhuyu Tongfu (ZYTF) Serial Recipe combined with acupuncture and massotherapy in treating hypertensive cerebral hemorrhage (HCH).</p><p><b>METHODS</b>One hundred and eighteen patients with hypertensive cerebral hemorrhage, on the basis of conventional Western medicine treatment, were randomly divided into ZYTF combined with acupuncture and massotherapy group (treated group) and simple Western medicine group (control group); the clinical efficacy, neurofunction deficit scoring (NDS) alterations and hematoma absorption rate of both groups were observed, and also the plasma superoxide dismutase (SOD) activity, plasma lipid peroxidase (LPO) content, erythrocyte glutathion peroxidase (GSH-Px) activity, hematocrit (Ht) and the whole blood viscosity (Va) change were also observed.</p><p><b>RESULTS</b>In the treated group, the clinical efficacy, NDS improvement and hematoma absorption rate were superior to that of the control group; comparison between the two groups after treatment showed that plasma SOD activity and GSH-Px activity got more elevated and plasma LPO content, Ht and Va more lowered in the the treated group than those in the control group.</p><p><b>CONCLUSION</b>ZYTF combined with acupuncture and massotherapy has better effect, its therapeutic mechanism was possibly correlated to the elevation of plasma SOD activity, GSH-Px activity and lowering of plasma LPO content, Ht and Va.</p>

GM1 stabilizes expression of NMDA receptor subunit 1 in the ischemic hemisphere of MCAo/reperfusion rat / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

<p><b>OBJECTIVE</b>To determine the protective effect of monosialoganglionside (GM1) and evaluate the influence of GM1 on expression of N-methyl-D-aspartate receptor subunit 1 (NMDAR1) in Sprague-Dawley (SD) rats with focal cerebral ischemia-reperfusion (I/R).</p><p><b>METHODS</b>Left middle cerebral artery (MCA) was occluded by an intraluminal suture for 1 h and the brain was reperfused for 72 h in SD rats when infarct volume was measured, GM1 (10 mg/kg) was given ip (intraperitoneally) at 5 min (group A), 1 h (group B) and 2 h (group C) after MCA occlusion (MCAo). Expression of NMDAR1 was detected by Western blot at various time after reperfusion (4 h, 6 h, 24 h, 48 h and 72 h) in ischemic hemispheres of the rats with or without GM1 administered.</p><p><b>RESULTS</b>(1) Adjusted relative infarct volumes of groups A and B were significantly smaller than that of group C and the control group (P<0.01 and P<0.05, respectively). (2) Expression level of NMDAR1 was temporally high at 6 h after reperfusion, and dipped below the normal level at 72 h after reperfusion. GM1 at 5 min after MCAo significantly suppressed the expression of NMDAR1 at 6 h after reperfusion (P<0.05 vs the control). At 72 h after reperfusion, the NMDAR1 expression level of rats treated with GM1 administered (at 5 min or 2 h after MCAo) was significantly higher than that of the control (P<0.05).</p><p><b>CONCLUSION</b>GM1 can time-dependently reduce infarct volume in rats with focal cerebral I/R partly through stabilizing the expression of NMDAR1.</p>

Study on protective effect of monosialoganglioside (GM1) on injury induced by oxygen glucose deprivation/reperfusion in rat hippocampal slices / 中国应用生理学杂志

<p><b>AIM</b>To investigate the protective effect of monosialoganglioside (GM1) on injury induced by oxygen glucose deprivation/reperfusion (OGD/Rep) in rat hippocampal slices.</p><p><b>METHODS</b>The protective effects of GM1 on hippocampal slices after OGD/Rep were observed by detecting the light transmittance (LT) changes of rat hippocampal slices and 2, 3, 5-triphenyltetrazolium chloride (TTC) staining of rat hippocampal slices.</p><p><b>RESULTS</b>(1) In four groups treated with 0 (control), 0.1, 1.0, 10 micromol/L GM1, the peak of light transmittance (LT) in the slices treated with 1.0 micromol/L GM1 was significantly lower than that of the control and the group treated with 0.10 micromol/L GM1 (P < 0.01, ANOVA), while the peak of LT in the slices treated with 10.0 micromol/L GM1 was significantly lower than that of the other groups (P < 0.01, ANOVA). The time to reach the peak of LT in four groups was significantly different from each other (P < 0.05, Kruskal-Wallis test). The time to reach the peak of LT in the group treated with 1 micromol/L GM1 was the significantly longer than that in the control (P < 0.01, Mann-Whitney U test). (2) There was characteristic dose-response relationship between GM1 and TTC staining of rat hippocampal slices. In the five groups, treated with 0 (control), 0.01, 0.1, 1.0, 10 micromol/L GM1 respectively, TTC staining in the group treated with 1 micromol/L GM1 was the deepest (P < 0.05 vs. control, 0.01 and 0.1 micromol/L GM1 group, ANOVA), and the next was in the group treated with 10 micromol/L GM1 (P < 0.05 vs. control and 0.01 micromol/L GM1 group, ANOVA).</p><p><b>CONCLUSION</b>GM1 could protect injury induced by OGD/Rep in rat hippocampal slices effectively in vitro.</p>