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>

Clinical and cranial MRI analysis on five cases of toxic encephalopathy induced by dichloroethane / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the clinical features, cranial MRI and treatment of toxic encephalopathy induced by 1, 2-dichloroethane (1, 2-DCE).</p><p><b>METHODS</b>The clinical, MRI features and treatment of 5 patients with toxic encephalopathy induced by 1,2-DCE were observed and analyzed.</p><p><b>RESULTS</b>Five patients all presented with subacute onset with a history of direct exposure to 1,2-DCE. Lumbar cerebrospinal fluid pressures were all increased in 5 patients. All 5 patients had obvious intracranial hypertension. Liver and kidney function had no obvious abnormalities; Cranial MRI showed T1WI low signal and T2WI high signal in bilateral hemispheric white matter, cerebellar dentate nucleus and globus pallidus. After the treatment of dehydrating agent, glucocorticoid and supportive treatment, four patients were clearly improved, and one patient had cerebral hernia formation.</p><p><b>CONCLUSION</b>The main neurological clinical features in patients with 1,2-DEC poisoning is obvious intracranial hypertension. The prognosis is usually good with early and long term use of glucocorticoids and dehydrating agent in poisoning patients.</p>

Delayed neuronal degeneration after intracerebral hemorrhage: the role of iron / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the occurrence of delayed neuronal degeneration, activation of microglia and nuclear factor-kappa B after rat intracerebral hemorrhage (ICH) and the possible role of iron.</p><p><b>METHODS</b>ICH model was induced by infusion of autologous whole blood into the right basal ganglia. To evaluate the possible role of iron on delayed neuron loss, an iron model by injection of FeCl(2) into hippocampus was also set up. Degeneration of neurons and the activation of microglia and NF-kappa B were detected.</p><p><b>RESULT</b>Both whole blood and iron caused neuron degeneration for at least 14 days were revealed by Fluoro-jade C staining. Consistently, activated microglia and NF-kappa B positive cells were also observed in the peri-hematoma area and the ipsilateral hippocampus.</p><p><b>CONCLUSION</b>The iron may participate in the delayed neuron injury followed ICH; the activated microglia and NF-kappa B may be involved in the process of delayed neuronal injury.</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.

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>

Serum levels of soluble intercellular adhesion molecule-1 in patients with cerebral infarct / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To observe the changes of the levels of soluble intercellular adhesion molecule-1(sICAM-1) in serum of patients with cerebral infarct and to explore the effect of sICAM-1 on cerebral infarct.</p><p><b>METHODS</b>The serum levels of sICAM-1 in 55 patients with cerebral infarct both in acute stage(within 2 days) and convalescence(2 weeks after attack) were detected by using ELISA. At the same time, we compare the results with those of 32 patients having other neurologic diseases(20 patients with sciatica, 12 with trigeminal neuralgia) and 30 healthy subjects.</p><p><b>RESULTS</b>(1) The serum levels of sICAM-1 of patients with cerebral infarct (acute stage: 766+/-179 microgram/L, convalescence: 602+/-155 microgram/L, respectively) were significantly higher than those of the control groups(530+/-77 microgram/L and 521+/-116 microgram/L, respectively, P<0.01). (2)There was a positive correlation of SICAM levels with the amount of leukocytes in acute stage(r=0.285,P<0.05), but negative correlation to clinical severity of cerebral infarct(r= 0.333,P<0.05). And there was no significant correlation between the level of sICAM-1 and the levels of cholesterol and triglyceride in serum(r= 0.042 and r=0.061, respectively, P>0.05). (3)There was no significant difference between sICAM levels of patients of cerebral cortex infarct and those of patients with basal ganglia infarct(773+/-178 microgram/L and 758+/-183 microgram/L, respectively, P>0.05). (4)The levels of sICAM-1 between patients of cerebral infarct with or without hypertension were no significant difference(774+/-189 microgram/L and 754+/-165 microgram/L, respectively, P>0.05).</p><p><b>CONCLUSION</b>The levels of sICAM-1 increase significantly in patients with cerebral infarct. sICAM-1 may participate in the pathophysiologic process through inflammatory mechanism.</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>