The significance of quantitative temperature sense thresholds in diagnosis of small fibrous sensory neuropathy in patients with type 2 diabetes / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To evaluate the small fiber function in patients with type 2 diabetes mellitus of the early stage by measuring the sensory threshold with the quantitative temperature testing technology.</p><p><b>METHODS</b>Twenty cases of patients with type 2 diabetes with no neurological deficit (DM group) and twenty age and sex-matched healthy controls underwent the detecting of cold sensory threshold (CST), warm sensory threshold (WST), cold pain threshold (CPT), heat pain threshold (HPT) in both inside of their hands.</p><p><b>RESULTS</b>There was no significant difference in CST, WST, CPT and HPT between left and right inside of hand of the same sample among all the testers. But the four kinds of threshold showed significant difference in the right inside of hand between patients and healthy people ( P < 0.05). In addition, the CST and WST differed significantly in the left inside of hand between the patients and healthy controls while the CPT and HPT showed no significant difference in the left inside of hand between them. Patients group and control group with CST and WST on the left side of the comparison difference was statistically significant (P < 0.05).</p><p><b>CONCLUSION</b>Quantitative analysis of temperature sense threshold can not only reflect increase of the pain threshold value, also can reflect its decrease, i. e. hyperalgesia, which may help to diagnose small fibrous peripheral neuropathy recognition, especially in early diabetic peripheral neuropathy.</p>

Clinical survey on neuropathic pain in neurological outpatient department / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To survey the features and its impact of neuropathic pain in neurological outpatients.</p><p><b>METHODS</b>A total of 106 patients with neuropathic pain were selected from Neurology Clinic of the Second Affiliated Hospital of Zhejiang University. General status instrument, SF-36 Quality of Life Scale and Hamilton Anxiety Scale (HAMA) were used in the survey.</p><p><b>RESULTS</b>Trigeminal neuralgia (23.6%), nerve root pain (21.7%), and post-herpetic neuralgia (13.2%) were the most common causes of neuropathic pain. The sequence of impairments in life quality of the patients was role-physical (21.2), bodily pain (39.9), role-emotional (41.2), general health (50.0), physical functioning (55.1), vitality (60.0), mental health (68.5), and social functioning (70.9). Pearson correlation coefficients were statistically significant between bodily pain and other dimensions of life quality (P<0.05). Western medication (45.3%) was the most common treatment adopted by physicians.</p><p><b>CONCLUSION</b>The prevalence of neuropathic pain is common in elderly patients. The three major types of neuropathic pain seriously affect the quality of life in patients. Although western medicine is the first choice of treatment, clinical drug selection should be standardized with efforts of both doctors and patients.</p>

Effects of thioperamide on seizure development and memory impairment induced by pentylenetetrazole-kindling epilepsy in rats / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Histamine H(3) receptor antagonists have been considered as potential drugs to treat central nervous system diseases. However, whether these drugs can inhibit epileptogenesis remains unclear. This study aimed to investigate the effects of thioperamide, a selective and potent histamine H(3) receptor antagonist, on the seizure development and memory impairment induced by pentylenetetrazole (PTZ)-kindling epilepsy in rats.</p><p><b>METHODS</b>Chemical kindling was elicited by repeated intraperitoneal (ip) injections of a subconvulsant dose of PTZ (35 mg/kg) once every 48 hours for 12 times, and seizure activity of kindling was recorded for 30 minutes. Control rats were ip injected with saline instead of PTZ. Morris water maze was used to evaluate the spatial memory. Phosphorylated cyclic adenosine monophosphate response element binding protein (p-CREB) was tested by Western blotting in hippocampus.</p><p><b>RESULTS</b>Intracerebroventricular (icv) injections with thioperamide (10 µg, 20 µg) 30 minutes before every PTZ injections, significantly prolonged the onset of PTZ-kindling and inhibited the seizure stages. PTZ-kindling seizures led to the impairment of spatial memory in rats, and thioperamide ameliorated the impairment of spatial learning and memory. Compared to non-kindling rats, there was a significant decrease in p-CREB level in hippocampus of the PTZ-kindling rats, which was reversed by thioperamide.</p><p><b>CONCLUSIONS</b>Thioperamide plays a protective role in seizure development and cognitive impairment of PTZ-induced kindling in rats. The protection of thioperamide in cognitive impairment is possibly associated with the enhancement of CREB-dependent transcription.</p>

Multi-mode MRI-based intravenous thrombolysis with recombinant tissue plasminogen activator (rtPA) reduces hemorrhagic transformation in ischemic stroke patients / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To compare the safety of intravenous thrombolytic therapy with recombinant tissue plasminogen activator (rtPA) in ischemic patients under the guidance of CT and multi-mode MRI.</p><p><b>METHODS</b>The clinical, laboratory, and radiologic data from 113 consecutive hyperacute ischemic patients who received intravenous rtPA therapy from June 2009 to October 2011 was retrospectively reviewed. The rate of hemorrhagic transformation (HT) and the clinical outcome between CT and multi-mode MRI was compared. Etiological subgroups were classified according to Chinese ischemic stroke subclassification (CISS).</p><p><b>RESULTS</b>Among 113 patients treated with intravenous rtPA, the mean age was 66 ±12 years, 74(65.5%) were man, the pretreatment National Institutes of Health Stroke Scale score (NIHSS) was 12.4 ±6.5, and time from symptom onset to therapy was 259.7 ±131.7 min. Postlytic radiological HT was found in 34 patients (30.1%). Symptomatic ICH occurred in 9 patients (8%). Logistic regression analysis suggested that multi-mode MRI was an independent predictor of reduced risk of HT.</p><p><b>CONCLUSION</b>The risk of hemorrhagic complications is lower in patients receiving intravenous thrombolytic therapy with rtPA guided by multi-mode MRI than those guided by CT scan.</p>

Acute insular infarct increases risk of electrocardiogram changes and sudden cardiac death / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the influence of location and size of acute insular infarct on stroke-related electrocardiogram (ECG) changes and cardiovascular events.</p><p><b>METHODS</b>Ninety-nine cases admitted to hospital from October 2007 to June 2009, who were diagnosed as acute middle cerebral artery territory infarct within 48 h after onset and without the history of cardiac diseases, were included in the study. The patients were further divided into three groups: major insular infarct, minor insular infarct and control group, according to the infarct size on MRI diffusion-weighted image. The clinical data, ECG changes and cardiovascular events were compared between left and right insular infarct. Logistic regression was applied to determine the independent risk factors of ECG changes and cardiovascular events.</p><p><b>RESULT</b>Large artery atherosclerosis was the main cause of acute insular infarct (71.8 %), which was associated with higher NIHSS score compared to the control group (P < 0.01). Comparing the left and right insular infarct, the frequencies of sinus bradycardia and sudden cardiac death were significantly higher in left insular infarct (P < 0.01 and P < 0.05), while there was a trend that the frequency of atrial fibrillation was higher in right insular infarct (P = 0.079). With the larger size of insular infarct, the frequency of sinus bradycardia, new atrial fibrillation and sudden cardiac death (P<0.01, P<0.05 and P<0.05, respectively) became much higher. Logistic regression analysis showed that major insular infarct was related to the higher frequency of sinus bradycardia (OR = 4.660, 95% CI: 1.646 ~ 13.195; P = 0.004).</p><p><b>CONCLUSION</b>Acute insular infarct is associated with the stroke-related ECG changes and sudden cardiac death. Left insular infarct is related to sinus bradycardia, possibly due to the enhanced parasympathetic tone. It deserves clinical attention that the incidence of cardiac autonomic disturbance becomes higher with the enlarged insular infarct size.</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.

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.

Reliability and validity of a Chinese version of the Quality of Life in Epilepsy Inventory (QOLIE-31-P) / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To develop and validate a Chinese version of the Patient-Weighted Quality of Life in Epilepsy Questionnaire (QOLIE-31-P).</p><p><b>METHODS</b>The original English version of the QOLIE-31-P was translated into the Chinese language. The inventory was then completed by 200 adult patients with epilepsy; and 49 patients also completed the scale twice within three weeks. Test retest, internal consistency reliabilities, construct validity, and some influential factors for quality of life in adults with epilepsy were assessed.</p><p><b>RESULT</b>Test retest reliability (Pearson's correlation coefficient) for the Chinese version of the QOLIE-31-P ranged from 0.725 to 0.912 (P<0.001), and the internal consistency reliability (Cronbach's alpha coefficient) ranged from 0.627 to 0.898. Factor analysis showed that there were seven factors, which explained the total variance for 64.9%. The coefficient of seizure frequency with the quality of life was -0.81(P<0.05). The QOLIE-31-P score of the patients with tonic clonic seizure was 55.7 +/-16.6, and that of other seizure type was 61.4 +/-18.7(t=-2.568, P<0.05).</p><p><b>CONCLUSION</b>The psychometric properties of the Chinese version of the QOLIE-31-P have satisfactory reliability and validity, and can be applied to assess quality of life in Chinese adult patients with epilepsy.</p>

An insulinoma with clinical and electroencephalographic features resembling complex partial seizures / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

We described a female patient with insulinoma who experienced recurrent episodes of automatism, confusion and convulsion. Furthermore, her electroencephalography (EEG) findings resembled the pattern in complex partial seizures with secondary generalization. The interictal EEG showed spikes and sharp waves, as well as focal slowing over the left temporal lobe, and the ictal EEG revealed generalized spikes and sharp waves associated with diffused slowing. She was initially misdiagnosed as pharmacoresistant epilepsy. After the insulinoma was found and surgically removed, her EEG turned normal and she was seizure-free during the 4-year follow-up. This report highlights the need for careful reassessment of all seizures refractory to medication, even for the patients associated with epileptiform discharges on EEG.

Effect of hyperbaric oxygen treatment on mitochondrial free radicals after transient focal cerebral ischemia in rats / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the effect of hyperbaric oxygen(HBO)therapy on mitochondrial free radicals after transient focal cerebral ischemia in rats.</p><p><b>METHODS</b>The male SD rats were randomly assigned into two groups, control and HBO groups. All animals were subjected to 90 min intra-luminal middle cerebral artery occlusion (MCAO) with the regional cerebral blood flow monitored in vivo by laser Doppler flowmetry. HBO treatment was performed in a pressure chamber with 100% O(2)(3 ATM 1 h) 3 h after ischemia. Twenty-four hours after ischemia, mitochondria in the ischemic core and penumbra were isolated and the contents of H(2)O(2), O(2)(*-), MDA, SOD, GSH-PX and GSH in mitochondria were measured respectively.</p><p><b>RESULT</b>After cerebral ischemia-reperfusion, contents of mitochondrial H(2)O(2), O(2)(*-), MDA increased, while the SOD, GSH-PX and GSH in the mitochondria decreased significantly both in the ischemic core and the ischemic penumbra, compared with those in the normal controls(P<0.05). In the ischemic penumbra, HBO therapy increased significantly the content of O(2)(*-)(P<0.05), enhanced the activity of SOD, and decreased the level of MDA (P<0.05). However, HBO therapy did not change the level of MDA, though it also increased the content of O(2)(*-) and the activity of SOD in the ischemic core. HBO therapy had no significant effect on the contents of H(2)O(2), GSH-PX and GSH in the ischemic mitochondria.</p><p><b>CONCLUSION</b>HBO therapy initiated early after acute transient cerebral ischemia in rats can increase the mitochondrial free radicals level, but also increase the activity of the anti-radical enzymes. HBO treatment inhibits the lipid peroxidation damage of mitochondria in the ischemic penumbra, but not in the ischemic core, which indicates that the mitochondrial function plays a role in the reaction of the free radical in the ischemic area after HBO therapy.</p>

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

<p><b>OBJECTIVE</b>To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.</p><p><b>METHODS</b>The proband and available family members were identified by neurological examination. The clinical manifestation of 8 patients (including the proband) was analyzed; the electromyographic data of 5 patients were compared with 6 other family members. Blood samples were obtained from the 7 patients of the family (excepting II6). DM(1) and DM(2) gene were amplified by PCR, tested by agarose electrophoresis, then analyzed by genetic analyzer.</p><p><b>RESULTS</b>Myotonia and muscle weakness were the main manifestations associated with heart block (7/8) and cataract(6/7). Electromyologram showed myopathic abnormalities not only in patients but also in other members of the family (5/6). The CTG repeats in DM1 and CCTG repeats in DM2 were all in normal range.</p><p><b>CONCLUSION</b>There likely to be new mutants in this DM pedigree and further study is needed.</p>

Effects of puerarin with aspirin on the markers of damaged vascular endothelial cells in patients with acute cerebral infarction / 中国中药杂志

<p><b>OBJECTIVE</b>To investigate the effects of puerarin with aspirin on the markers of damaged vascular endothelial cells, as von Willebrand factor (vWF), and thrombomodulin (TM) in patients with acute cerebral infarction (ACI).</p><p><b>METHOD</b>Forty-five patients with ACI were included in this study and divided into basic treatment and puerarin groups, meanwhile 26 healthy persons selected as control group. The serum vWF and sTM concentrations were measured by enzyme-linked immunosorbant assay (ELISA) and national institute health stroke scale (NIHSS) score was evaluated at admission and 14 days later after treatment.</p><p><b>RESULT</b>The level of serum vWF significantly increased in patients with ACI compared to control and major stroke had higher vWF level than minor stroke (P < 0.01), but the serum level of sTM had no obviously differences respectively. Correlation analysis showed that there is a positive correlation between the level of vWF and NIHSS score (P < 0.05, r = 0.368), while the significant correlations between the level of vWF and sTM, sTM and NIHSS score were not observed. After 14 days treatment, the level of serum vWF and NIHSS score were obviously decreased in patients treated with puerarin and aspirin, not in basic treated patients. The level of sTM was increased in patients after 14 d, while puerarin treated patient has lower sTM level than patients with basic treatment (P < 0.05).</p><p><b>CONCLUSION</b>Patients with ACI cotreated with puerarin and aspirin improved the neurological function, decreased the levels of serum vWF and sTM, indicating puerarin with aspirin had the protective effects on the damaged vascular endothelial cells.</p>

Effects of puerarin on expression of nuclear factor kappaB after cerebral ischemia/reperfusion in rats / 中国中药杂志

<p><b>OBJECTIVE</b>To investigate the activation of nuclear factor kappaB (NF-KB) and the influence of puerarin on it after cerebral ischemia-reperfusion in rats.</p><p><b>METHOD</b>Cerebral ischemia-reperfusion injury was induced by 90 min of middle cerebral artery (MCA) occlusion and followed by 2, 6, 12, 24, 72 h reperfusion. Puerarin or saline was intra-peritoneally injected 1h before MCA occlusion and then the drugs were administered once every six hours. The infarct volume and brain edema were determined by TTC stain. Level of NF-kappaB P65 subunit was determined by immunohistochemistry and western blot.</p><p><b>RESULT</b>Immunohistochemistry revealed the translocation of NF-kappaB. A time course of NF-kappaB induction in brain showed that NF-kappaB P65 subunit obviously increased at 6 h, peaked at 24 h and then decreased by 72 h post-reperfusion. Puerarin decreased the level of NF-kappaB at 24, 72 h after reperfusion. There was a decrease trend in brain infarct volume between puerarin and control.</p><p><b>CONCLUSION</b>NF-kappaB is translocated and its level is increased after ischemia-reperfusion. Puerarin may attenuate the ischemia-reperfusion injury through inhibition of NF-kappaB activation.</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.

Dynamics of calcium in the hippocampal neuronal culture model of epilepsy / 中国应用生理学杂志

<p><b>AIM</b>To observe the intracellular calcium ion spatio-temporal and dynamic changes in the hippocampal neuronal culture model of epilepsy induced by low magnesium ion medium, and to explore the relationship between calcium ion and epilepsy.</p><p><b>METHODS</b>Applying both laser scanning confocal microscope and patch clamp to timely observe the changes of [Ca2+]i and electrophysiological in the hippocampal neuronal culture model of epilepsy, and the influence of NMDA receptor-gated channels retarder and non-NMDA receptor-gated channels retarder.</p><p><b>RESULTS</b>After the hippocampal nerve cell broken into epileptiform discharges, [(Ca2+]i rapidly ascended to (620 +/- 70) nmol/L, NMIDA acceptor retarder (MK-801, 10 micromol/L) and non-NMDA acceptor retarder (NBQX, 10 micromol/L) reduced [Ca2+]i ascendance. Recovery of the elevated [Ca2+]i was obviously delay, after 90 min and 150 min epileptiform discharges, it took (114.8 +/- 5.2) min and (135.0 +/- 22.7) min (P < 0.05) respectively.</p><p><b>CONCLUSION</b>In vitro status epilepticus causes sustained elevation of intracellular calcium levels in hippocampal neurons</p>

Study of brainstem auditory evoked potentials and its correlation with pontine volume in olivopontocerebellar atrophy / 中国应用生理学杂志

<p><b>AIM</b>To investigate the change of latency and interpeak latency of each component of BAEP (brainstem auditory evoked potential, BAEP) and its correlation with PV/PFV (pontine volume/posterior fossa volume, PV/PFV) ratio in OPCA (olivopontocerebellar atrophy, OPCA).</p><p><b>METHODS</b>We used Keypoint EMG/EP to determine waves I PL (peak latency, PL), III PL, V PL and I - III IPL (interpeak latency, IPL), III - V IPL, I - V IPL and used 1.5TMR 3D volume rendering software to determine PV (pontine volume, PV), CV(cerebellar volume, CV) and PFV (posterior fossa volume,PFV). Then calculated PV/PFV ratio, CV/PFV ratio and PV/ CV ratio in OPCA group and control group.</p><p><b>RESULTS</b>Compared with control group, in OPCA group wave IIII PL, I - III IPL were significantly elongated (P < 0.05), III - V IPL was significantly shorten (P < 0.05), PV/PFV ratio was significantly decreased (P < 0.01); there was a positive correlation between III-V IPL and PV/PFV ratio (r = 0.83, P < 0.01).</p><p><b>CONCLUSION</b>In patients with OPCA, III PL, I - III IPL of BAEP were elongated and III - V IPL of BAEP was shorten. III - V IPL became shorter when the volume of pontine decreased.</p>

Effect of hyperbaric oxygenation treatment on the apoptotic cell death pathway after transient focal cerebral ischemia / 中国应用生理学杂志

<p><b>AIM</b>To evaluate the effects of administration of hyperbaric oxygenation(HBO) when initiated at different time after acute transient ischemia. Apoptosis in the ischemic penumbra was further investigated to search for the possible mechanism.</p><p><b>METHODS</b>The male SD rats were randomly assigned to the following groups: control, HBO therapy initiated 3 h after ischemia, HBO therapy initiated 6 h after ischemia, HBO therapy initiated 12 h after ischemia. All animals were subjected to 90 min intraluminal middle cerebral artery occlusion (MCAO) with the regional cerebral blood flow monitored in vivo by laser Doppler flowmetry. HBO treatment was performed in a pressure chamber with 100% O2, 3 arm for 1 h. Neurological deficits and infarct volumes were assessed at 24 hours after ischemia. The immunohistochemical changes of apoptosis in the penumbra were evaluated by detecting the expression of cleaved Caspase-3, cleaved Caspase-9, Bcl-2, Bax and TUNEL staining.</p><p><b>RESULTS</b>HBO therapy initiated at 3 and 6 hours after ischemia significantly improved the neurological function and reduced infarct volume. Meanwhile, it increased the expression of Bcl-2 protein and decreased the expression of activated Caspase-3, activated Caspase-9 and TUNEL-positive cells. However, HBO therapy administrated 12 hours after ischemia aggravated the neurological deficits and enlarged infarct volume, while it showed no significant reduction of apoptotic change compared with control.</p><p><b>CONCLUSION</b>There is a therapeutic window for the use of HBO in acute transient cerebral ischemia in rats. HBO-treatment is highly effective in reducing infarct volume when initiated up to 6h after the onset of ischemia. Inhibition of apoptotic cell death in the penumbra appears to be the underlying protective effect of early therapy.</p>

Effect of irbesartan on focal cerebral ischemia in rats / 中国应用生理学杂志

<p><b>AIM</b>To investigate whether the selective AT1 receptor antagonist irbesartan exerts neuroprotective effect on focal cerebral ischemia in normotensive rats.</p><p><b>METHODS</b>Cerebral ischemia was induced by middle cerebral artery occlusion (MCAO) for 90 min followed by reperfusion, with the monitoring of laser Doppler flowmetry. To avoid the interaction with peripheral AT1 receptors, irbesartan was infused intracerebroventricularly (ICV) at a dose which effectively inhibited brain- but not vascular AT1 receptors. Neurological status was evaluated daily after MCAO. Rats were killed and brain samples were collected for the measurement of infarct size and immunohistochemical evaluation of apoptosis by deoxynucleotidyltransferase-mediated biotinylated UTP nick end labeling (TUNEL) and expression of activated Caspase-3 and the cleavage fragment of poly (ADP-ribose) polymerase (PARP).</p><p><b>RESULTS</b>Treatment with irbesartan improved significantly the neurobehavioral functions after cerebral ischemia. The infarct size was reduced about 42% on day 7 after MCAO (P < 0.05). Meanwhile,irbesartan treatment significantly decreased the number of TUNEL-positive cells in the penumbra. The expression of activated Caspase-3 and the downstream cleavage fragment of poly (ADP-ribose) polymerase in the penumbra were also inhibited by irbesartan therapy on day 3 after transient cerebral ischemia.</p><p><b>CONCLUSION</b>Angiotensin AT1 receptor antagonist exhibits neuroprotection against transient cerebral ischemia in the brain. The neuroprotective effects in ischemic tissue may be associated with its inhibition of apoptotic cell death in the penumbra.</p>

Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To report a Chinese Charcot-Marie-Tooth disease type 2 (CMT2) family.</p><p><b>METHODS</b>All the members in the family were studied clinically,and 6 patients were studied electrophysiologically. Sural nerve biopsy was performed in the proband. PMP22 gene duplications were detected by highly polymorphic short tandem repeat. Point mutation analysis of PMP22, MPZ and NEFL gene was screened by PCR-SSCP combined with DNA direct sequencing. A genome-wide screening was carried out to the family.</p><p><b>RESULT</b>Except 2 who had weakness and atrophy in both proximal and distal muscles of the lower limbs, all patients presented muscle wasting and a predominating weakness of distal parts of the lower limbs, and mild to moderate sensory impairments. In 6 patients who were subjected to elctrophysiological examinations, median-nerve conduction velocity (NCV) of the median nerve was normal. Electromyograms (EMGs) revealed signs of denervation with large motor unit potentials, fibrillation potentials and positive sharp waves. Sural nerve biopsy of the proband confirmed the presence of axonal neuropathy with an important loss of large myelinating fibers and a large number of clusters with mostly thinly myelinated axons. PMP22, MPZ and NEFL gene mutations were not found. The results of genome-wide screening revealed a linkage of CMT2 to a locus at chromosome 12q24.</p><p><b>CONCLUSION</b>The results are consistent with the diagnosis of CMT2. This family represents a rare genetic type of CMT2 which can be designated as CMT2L.</p>

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>