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Objective:To report the genetic and clinical features of sorbitol dehydrogenase (SORD) gene-related Charcot-Marie-Tooth disease (CMT) in Chinese population.Methods:Fifty-seven undiagnosed sporadic or autosomal recessive (AR) inherited CMT2 families were collected from the Department of Neurology of the Third Xiangya Hospital from 2009 through 2018 .Polymerase chain reaction combined with Sanger sequencing were used to detect the mutations of SORD gene, and the relative clinical features were summarized. Results:The homozygous SORD gene hot spot mutation c.757delG (p. Ala253GlnfsTer27) was detected in four sporadic patients, accounting for about 7% of the total. Two patients with CMT2 phenotype were characterized by progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in both motor and sensory nerves. Two patients with distal hereditary motor neuropathy (dHMN) phenotype exhibited progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in motor nerves only. The age of onset was between five and 16 years, and the CMT neuropathy score was 2-9.Conclusions:The homozygous hot spot mutation of SORD gene (c.757delG, p.Ala253GlnfsTer27), and related childhood or adolescence onset, mildly affected CMT2/dHMN phenotypes are firstly reported in Chinese population. SORD gene-related CMT might be the most common subtype of AR-CMT2.
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Objective To analyze the electrophysiological characteristics of Charcot-Marie-Tooth (CMT) disease 1A,1X,2A and myelin protein zero (MPZ)-related CMT in Chinese patients.Methods Baseline electrophysiological data from 36 CMT1A patients,78 CMT1X patients,31 CMT2A patients and 10 MPZ-related CMT patients in the Third Xiangya Hospital and Xiangya Hospital of Central South University during 2004-2018 were analyzed.Electrophysiological recordings were taken from the upper limbs (median nerve,ulnar nerve) and lower limbs (tibial nerve,peroneal nerve).Demyelination in different nerve segments was assessed by measurement of distal motor latency,motor nerve conduction velocity (MNCV),sensory nerve conduction velocity and F-wave latency,and calculation of conduction block,terminal latency index (TLI) and modified F ratio (MFR);Axonal degeneration was assessed by measuring compound motor action potential (CMAP) and sensory nerve action potential.The relationship between the gender,age at onset,duration,Overall Neuropathy Limitation Scale (ONLS) score and indexes of peripheral nerve electrophysiology was statistically analyzed.Results The peripheral nerves of CMT1A patients were characterized by uniform demyelination and axonal degeneration.MNCV ((21.39± 6.72) m/s) and CMAP amplitude (2.40 (3.50) mY) of median nerve of CMT1A patients were decreased.The peripheral nerves of CMT1X patients were also characterized by uniform demyelination and axonal degeneration.MNCV (35.20 (6.77) m/s) and CMAP amplitude (2.60 (3.79) mY) of median nerve of CMT1X patients were decreased.CMT2A patients showed axonal degeneration of the peripheral nerves and CMAP amplitude ((4.75 ±2.38) mV) of median nerve of CMT2A patients was decreased.The electrophysiological data in MPZ-related CMT patients demonstrated variability.The TLI and MFR for the median and ulnar nerves in these four subtypes were normal.MNCV (r=0.423,P=0.025) of median nerve in CMT1A patients was positively correlated with age at onset.MNCV (r=0.782,P=-0.013) of median nerve in MPZ-related CMT patients was positively correlated with age at onset.CMAP amplitude (r=0.652,P＜0.01) of median nerve in CMT2A patients was positively correlated with age at onset.Demyelination and axonal degeneration in male CMT1X patients were relatively more severe than those in female patients,and MNCV (Z=-3.300,P＜0.01) and CMAP amplitude (Z=-3.960,P＜0.01) of median nerve,MNCV (Z=-2.56,P=0.011) and CMAP amplitude (Z=-2.311,P=0.048) of ulnar nerve of male patients were lower than those of female patients.The ONLS score of CMT1A (r=-0.494,P＜0.01),CMT1X (r=-0.596,P＜0.01) and CMT2A patients (r=-0.494,P=0.012) was inversely associated with CMAP amplitude.Conclusions The electrophysiological characteristics of CMT1A,CMT1X,CMT2A and MPZ-related CMT are different.Electrophysiological examinations are the basis of clinical classification and could provide guidance for further genetic testing and diagnosis.CMAP amplitude may serve as an objective index to assess the severity of functional disability in CMT patients.
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Objective Discussed the efficacy of applying standardized patient in clinical surgical practice teaching.Method Twenty eight-year-medical students in our college were enrolled and students' theoretical knowledge mastering ability,students' evaluation on the teaching and students'clinical ability were surveyed.Result Students' score significantly increased compared to last year scores (P ＜0.01).100％ of the participants found the SP teaching methods can increase the interest in learning; 90％ of students found the SP as a guide to better grasp the teaching content; 95％ of students found the SP teaching methods can improve the ability to communicate with patients.Conclusions The class atmosphere was improved,students' enthusiasm was activated,students' clinical ability was promoted and satisfactory teaching effect was obtained after applying standardized patient.
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Objective To investigate the pattern of the cerebral white matter lesions in patients with mild and moderate Alzheimer's disease(AD)and healthy controls using proton magnetic resonance spectroscopy(~1H-MRS)and diffusion tensor imaging(DTI).Methods Twenty AD patients and Twenty healthy controls were recrnited.All subjects underwent clinical examination,neuropsychological assessment.The quantitative analysis of N-acetylaspartate(NAA),myoinositol(mI),Chotine(Cho)and Creatine(Cr)resonance signals in region of interests(ROIs)located in the paraventricular white matter region bilaterally were measured.Ratios of NAA/Cr,mI/Cr and Cho/Cr were calculated in two groups.In addition,conventional MRI and DTI scanning were received,fractional anisotropy(FA)and mean diffusivity(MD)values of white matter in the same regions were measured respectively.Results No significant difference between two groups were observed in NAA/Cr ratio(P＞0.05).A significantly increased mI/Cr and Cho/Cr were found in AD patients than in controls(P＜0.05).FA and MD values in AD patients were 0.470±0.082 and 0.771±0.099,and in controls were 0.539±0.068 and 0.691±0.064,respectively.FA value decreased significantly in AD patients(P＜0.05),M D value increased significantly in AD patients(P＜0.05).After controlling for age-related,partial correlation analysis revealed a negtive correlation between mI/Cr and FA value in the patients with AD(P＜0.05).No correlation between mI/Cr and MD was found(P＞0.05).Conclusion The results suggest that not only the gray matter is injured,but also the white matter is abnormal in AD patients.Combining ~1H-MRS with DTI alterations could provide the valuable informations about white matter lesions in AD patients.
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Objective To summarize MRI findings of focal cortical dysplasia (FCD), analyze MRI characteristics of various pathological subtypes of focal cortical dysplasia. Methods Forty-four patients with FCD were collected. Their MRI findings were analyzed retrospectively. According to pathologic findings, these patients were divided into FCD type Ⅰ group and FCD type Ⅱ group. The following MR signs were observed in the two types of FCD: ( 1 ) Focal thickening of the cortex. ( 2 ) Blurring of the gray matter-white matter junction. ( 3 ) Tapering of white matter signal intensity alteration toward the ventricle on FLAIR and on T2WI. (4)Focal brain hypoplasia. (5)Increased signal intensity of gray matter on FLAIR. (6)Increased signal intensity of gray matter on T2 WI. ( 7 ) Increased signal intensity of subcortical white matter on FLAIR.(8) Increased signal intensity of subeortical white matter on T2WI. (9) Decreased signal intensity of subcortical white matter on T1 WI. The χ2 tests and corrected χ2 tests were used for comparison between the two groups. Results In the 44 cases, there were 30 cases with FCD type Ⅰ and 14 cases with FCD type Ⅱ. FCD was identified by MRI in 32 cases. Blurring of the gray-white matter junction is the most common sign of FCD (23 cases). There were 21 cases identified by MRI in FCD type Ⅰ group. Focal brain hypoplasia is a typical sign of FCD type Ⅰ , which was found in 11 cases in FCD type Ⅰ group but none in FCD type Ⅱ group. There was statistically significant difference between the two groups (continuity corrected χ2 =5. 0286,P =0. 0249) . In FCD type Ⅱ group, 11 cases were identified by MRI. Increased cortical thickness was found in 10 eases in FCD type Ⅱ group and 11 cases in FCD type Ⅰ group ( χ2 =4. 6234 ,P =0. 0315). Increased signal intensity of subcortical white matter on FLAIR was found in 9 cases in FCD type Ⅱ group and 7 cases in FCD type Ⅰ group (χ2 =6.9180,P =0.0085). Tapering of white matter signal intensity alteration toward the ventricle was found in 4 cases in FCD type Ⅱ group and none in FCD type Ⅰ group ( continuity corrected χ2 = 6. 2883, P = 0. 0122). The above-mentioned three MRI findings showed statistically significant difference between the two groups and were features of FCD type Ⅱ.All of the other MRI findings showed no statistically significant difference between the two groups. Conclusions Different pathological subtypes of FCD have different MRI characteristics. It is helpful to make preoperative diagnosis and planning.
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OBJECTIVE@#To explore the relationship between hypoxia-inducible foctor-1α (HIF-1α) and neovascularization in early atherosclerosis plaques by establishing rabbit carotid atherosclerosis models, and to observe the value of contrast-enhanced ultrasound in the detection of neovascularization.@*METHODS@#We provided high-fat diet combined with the implantation of silicone rubber ring to establish carotid atherosclerosis in rat models. On the 14th and 28th days, we detected neovascularization in the carotid atherosclerotic plaques by contrast-enhanced ultrasound, obtained the peak intensity (PI) of the contrast agent in the plaques by time-intensity curve (TIC) and analyzed the difference. We also tested the level of HIF-1α, vascular endothelial growth factor (VEGF), cluster of differentiation 31 (CD31), α-actin, and RAM-11 by immunohistochemical method in each group, analyzed their correlation, and the correlation between PI and CD31 expression.@*RESULTS@#On the 14th day, contrast-enhanced ultrasound showed the neovascularization in the carotid atherosclerotic plaques. On the 14th and 28th days, the intensity of contrast-enhanced ultrasound showed significant difference, the mean optical density of HIF-1α, VEGF, CD31, RAM-11, and α-actin within the carotid atherosclerotic plaques also showed statistical difference. The expressions between HIF-1α and VEGF, HIF-1α and CD31, HIF-1α and RAM-11, HIF-1α and α-actin, as well as PI and CD31 showed highly positive correlations.@*CONCLUSION@#During the process of atherosclerosis evolution, neovascularization in the atherosclerotic plaques has come into being in the early period, and HIF-1α in early atherosclerosis can promote the formation of neovascularization. Contrast-enhanced ultrasound can detect the dynamic changes of neovascularization within early atherosclerotic plaques.
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Animals , Male , Rabbits , Carotid Artery Diseases , Metabolism , Pathology , Disease Models, Animal , Hypoxia-Inducible Factor 1, alpha Subunit , Metabolism , Neovascularization, Pathologic , Metabolism , PathologyABSTRACT
Objective To investigate and evaluate the changes of T lymphocytes and red cell immunity of peripheral blood in patients with primary hepatocyte carcinoma (PHCC) after radiofrequency ablation(RFA) treatment. Methods The pre- and post- RFA(3d,7d,14d) peripheral blood T lymphocyte subsets(T3,T4,T8,T4/T8) and red cell immunity (RBC C3 receptor flower and RBC-immuocomplex formation rate) were investigated in 120 patients with PHCC treated by RFA. Results On 7d, 14d after RFA, T3, T4 lymphocytes and T4/T8 were higher than those on preoperative day significantly(P
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0.05). Conclusions The primary auditory cortex could be precisely localized by MSI.