Prevention and treatment of bariatric postoperative longterm complications / 中国实用外科杂志

In recent years,bariatric surgery has developed rapidly in China,and its surgical procedures are constantly being innovated. But the postoperative complications do not reduce. Each new kind of surgery brings new problems,and each new bariatric center established brings new test. Some long-term complications are emerging with the extension of time for bariatric postoperative follow-up in China. Metabolic surgeon should pay more attention to the prevention of postoperative complications. Only by analyzing and solving the developing problems can make postoperative complications be effectively prevented.

Anti-tumor metastatic constituents from Rhodiola wallichiana / 中国中药杂志

To study the anti-tumor metastatic constituents in Rhodiola wallichiana (HK) S H Fu var Cholaensis (Praeg) S H Fu, chemical constituents were isolated and purified by repeated column chromatography (silica gel, Toyopearl HW-40C and preparative HPLC). Their structures were elucidated on the basis of spectral data analysis. The anti-tumor metastasis assay was applied to evaluate the activities of the isolated compounds. Ten compounds (1-10) were isolated and their structures were identified by comparison of their spectral data with literature as follows: syringic acid (1), salidroside (2), tyrosol (3), scaphopetalone (4), berchemol (5), 2,6-dimethoxyacetophenone (6), rhobupcyanoside A (7), miyaginin (8), chavicol-4-O-β-D-apiofuranosyl-(1 --> 6)-O-β-D-glucopyranoside (9), eugenyol-O-β-D-apiofuranosyl-(1 --> 6)-O-β-D-glucopyranoside (10). Compounds 4-6 and 8-10, were isolated from this genus for the first time, while compound 7 was isolated from this plant for the first time. Compounds 2, 6-8 showed positive anti-tumor metastatic activities, and compounds 2 and 8 showed significant anti-tumor metastatic activities.

Construction of wild-type and mutant SPAST vectors for the study of molecular mechanism of hereditary spastic paraplegia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To construct wild-type and mutant pEGFP SPAST vectors and to explore the molecular mechanism of hereditary spastic paraplegia.</p><p><b>METHODS</b>Mutant SPAST vector was constructed using overlap PCR method following construction of wild-type SPAST vector. Wild-type and mutant constructs were transfected to COS7 cells and subcellular localization of spastin was observed. Co-localizations of spastin and microtubule, spastin and mitochondria were viewed by immunofluorescence staining.</p><p><b>RESULTS</b>Wild-type spastin is localized in plasma, and mutant spastin did not change its cellular localization. Wild-type and mutant spastins did not co-localize with microtubules and mitochondria by immunofluorescence analysis.</p><p><b>CONCLUSION</b>Wild-type and mutant SPAST constructs were successfully generated. Mutant spastin did not change its localization in cells. Spastin does not co-localize with microtubules and mitochondria. This study may facilitate further studies on molecular mechanism of hereditary spastic paraplegia.</p>

Treatment of non-motor symptoms of Parkinson's disease patients of Gan-Shen deficiency syndrome by guling pa'an granule: a multi-center double-blinded randomized controlled trial / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the therapeutic efficacy of guiling pa'an granule (GPG) in treating non-motor symptoms of Parkinson's disease (PD) patients of Gan-Shen deficiency syndrome (GSDS).</p><p><b>METHODS</b>A multi-center,third party-central online, network randomized, double-blinded, double-dummy, and placebo controlled clinical trial was conducted. Totally 121 patients with confirmed diagnosis of PD by Western medicine and of GSDS by syndrome typing were assigned to the control group and the treatment group. Under the premise of the same treatment baseline, the placebo and GPG at the same dose was respectively administered to patients in the control group and the treatment group. The therapeutic course was 6 months for all. The changes of 8 non-motor symptoms (including witless expression, seborrhea, sialorrhea, cognitive impairment, constipation, hyperhidrosis, insomnia and dreaminess, and psychosis) were observed in the two groups, when compared with the baseline.</p><p><b>RESULTS</b>Satisfactory effectiveness in the 8 non-motor symptoms of PD patients were obtained in the treatment group (P<0.01). Besides, less adverse reactions occurred.</p><p><b>CONCLUSION</b>GPG could improve the non-motor symptoms of PD patients.</p>

Analysis of the epidemic characteristics of fever and thrombocytopenia syndrome in Henan province, 2007 - 2011 / 中华预防医学杂志

<p><b>OBJECTIVE</b>To analyze the epidemiological characteristics of fever thrombocytopenia and leukopenia syndrome (FTLS) in Henan province, China in 2007 - 2011.</p><p><b>METHODS</b>Data from specific surveillance system for FTLS in Henan and Information Management System of Chinese Center for Disease Control and Prevention were used to collect the information of the cases.Descriptive epidemiological methods were used to analyze the surveillance data during 2007 - 2011. Patients' sera were collected to detect new bunyavirus using fluorescent RT-PCR and virus isolation.</p><p><b>RESULTS</b>During 2007 - 2011, 1021 FTLS cases were reported in Henan province. The fatality rate was 2.25%with 23 deaths. The cases reported in Xinyang city were 1007, accounting for 98.75%.Cases were mainly occurred between April and October, accounting for 96.47% (985/1021). Epidemic peak was May to July, accounting for 59.16% (604/1021). The second peak occurred in September, accounting for 12.05% (123/1021). The age of the cases ranged from 1 to 88 years old with the median age of 59. Sex ratio (male:female) was 1:1.50 (408:613). In all cases, 93.73% (957/1021) were farmers. In 465 patients' sera, the positive rate of new bunyavirus was 69.25% (322/465) using fluorescent RT-PCR. In 164 patients' sera, 67 strains of new bunyavirus were isolated with isolation rate of 40.85% (67/164).</p><p><b>CONCLUSION</b>FTLS in Henan province is caused mainly by the new bunyavirus and has certain regional and seasonal characteristics. Most cases are female older farmers.</p>

Analysis on the diagnosis and treatment of a cluster of cases infected by new bunyavirus / 中华预防医学杂志

<p><b>OBJECTIVE</b>To analyze and summarize the clinical characteristics, experience of diagnosis and treatment of cases infected by new bunyavirus, which occurred in Henan province in 2010.</p><p><b>METHODS</b>The clinical characteristics and effect of diagnosis and treatment of 5 cases were analyzed using descriptive epidemiological method. Blood specimens were detected by RT-PCR and pathogen separation.</p><p><b>RESULTS</b>PCR testing was positive for all 5 cases. New bunyavirus were isolated from 2 cases. In 5 cases, fever (5/5), the whole body aches (5/5), fatigue (5/5), anorexia (5/5), nausea (5/5), the chills (4/5), cough (4/5), expectoration (4/5), vomiting (3/5), conjunctival hyperemia (3/5); Leukocyte reduction (5/5), thrombocytopenia (5/5), elevated alanine aminotransferase (4/5), elevated aspartate aminotransferase (4/5), elevated lactate dehydrogenase (5/5), creatine kinase elevations (4/5), urinary protein (3/5). By symptomatic and supportive treatment and prophylactic antibiotics, the first case died and the other 4 cases were cured. The average course of disease was 15.4 days.</p><p><b>CONCLUSION</b>Cases infected by new bunyavirus have complicated clinical feature and multiple organ damage. If symptomatic treatment is in time, prognosis will be good.</p>

The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability.</p><p><b>METHODS</b>By using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluorescent protein (GFP) vector were transfected into SHSY-5Y cell, respectively. Twenty-four hours later, the cells were treated with 44 degree centigrade lethal heat shock for 40 minutes. The relative viability of SHSY-5Y cells in each group was tested by using tetrazole blue colorimetric method (methyl thiazolyl tetrazolium, MTT).</p><p><b>RESULTS</b>There were significant differences among the light absorption value of GFP, pEGFP-(wt)HSPB8 and pEGFP-(K141N)HSPB8 transfected groups after heat shock (P<0.05), indicating that the relative viability of cells overexpressed with (wt)HSPB8 and (K141N)HSPB8 was different from that of control cells. The viability of cells overexpressing (wt)HSPB8 was highest, followed by cells overexpressed with (K141N)HSPB8. The viability of cells tranfected with GFP only was the lowest.</p><p><b>CONCLUSION</b>HSPB8 may play an important role in the protection of cells under lethal heat shock treatment, and the K141N mutation can impair the protective effect.</p>

A multi-centered randomized double-blinded controlled clinical study on efficacy of gulling pa'an capsule in treating Parkinson's disease / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To objectively evaluate the clinical efficacy of Gulling Pa'an Capsule (GPC), a Chinese medicine, in treating Parkinson's disease (PD).</p><p><b>METHODS</b>According to the good clinical practice (GCP) principle, a multi-centered, double-blinded, layered, randomized and grouping-controlled clinical trial was carried out from May 2002 to January 2005 on 242 PD patients. Among them, 53 patients who had never received levodopa were randomized into two groups, 28 in group A treated with GPC, and 25 in group B treated with placebo; patients who had received levodopa were assigned depending on the Hoehn & Yahr (H-Y) grade, to 4 groups, 75 and 19 of grade 1.5 -3 in group C and E, respectively, 79 and 16 of grade 4 in group D and F, respectively, patients in group C and E were treated with GPC and Levodopa, and those in group D and F treated with placebo and Levodopa for control. The treatment course was 12 weeks for all. Changes of unified Parkinson's disease rating scale (UPDRS) II/III scores in comparing with the baseline were assessed. For the groups C, D, E and F, the dosage of levodopa administered was also recorded. Meanwhile, the blood pressure, pulse rate, blood and urine routine, liver and renal functions, electrocardiogram (ECG) and adverse reactions were monitored as the indices for safety supervise.</p><p><b>RESULTS</b>(1) After treatment, symptoms were markedly improved in 1 out of the 28 patients in group A and improved in 11, the markedly improving rate was 3.6% and the improving rate 39.3%; while in group B, the corresponding outcomes were 0 (0/25) and 28.0% (7/25) respectively, showing insignificant difference between the two groups. UPDRS scores, including the total, II and III scores were all significantly lowered in group A after treatment (P < 0.01, P < 0.05); while in group B, significant lowering only showed in terms of UPDRS III (P < 0.05); but the inter-group comparison of the changes in all the three items showed no significant difference. (2) The significant improving rate was 12.0% (9/75) and improving rate 48.0% (36/75) in group C, while those in group D, 12.7% (10/79) and 24.1% (19/79) respectively, the efficacy in group C was better (P < 0.05). The items of 3 UPDRS scores in groups C and D were all significantly lowered after treatment (P < 0.01), and the lowering in group C was more significant in terms of the total and II scores (P < 0.05). (3) The significant improving rate was 5.3% (1/19) and improving rate 36.8% (7/19) in group E, while in group F 0% (0/19) and 25.0% (4/16), respectively, showing insignificant difference between them; UPDRS scores lowered significantly in the two groups after treatment (P < 0.01), also showed no statistical significance in comparison (P > 0.05). (4) The dosage of Levodopa required in groups C and E was significantly reduced after treatment (P < 0.05), while in groups D and F, it was unchanged (P > 0.05); yet, the further analysis displayed that significant reduction only presented in group C (P < 0.05), not in the other three groups.</p><p><b>CONCLUSIONS</b>The overall efficacy of levodopa in combined with GPC for treating PD patients of H-Y grade 1.5 -3 is significantly higher than that of levodopa alone. GPC shows obvious effects in improving patients' motor syndrome and the quality of life; as used in combining with levodopa, the dosage of levodopa required could be reduced.</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>

The clinical characteristics of a pedigree with incompletely penetrated autosomal dominant hereditary spastic paraplegia and its exclusion analysis of genetic loci / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To describe the clinical features of a big family with incompletely penetrated autosomal dominant hereditary spastic paraplegia (SPG) and perform the exclusion analysis of genetic loci.</p><p><b>METHODS</b>The clinical information of this SPG family was analyzed retrospectively. Exclusion analysis of the known autosomal dominant SPG loci was performed by using multiplex fluorescence PCR, capillary electrophoresis and Linkage package.</p><p><b>RESULTS</b>There were eleven affected members available in this SPG family and the age at onset ranged from 2 to 10 years. The first symptoms were a bilateral, symmetrical, progressive lower limb weakness and spasticity. Patients presented with spasticity and hyperreflexia, positive Babinski sign and scissors gait, and the upper limbs were involved more severely than the lower limbs. No urinary inconsistence, sensory impairment, nystagmus and dementia were found. Genetic analysis showed that this family was consistent with autosomal dominant inheritance. The linkage analysis and mutation analysis revealed this family was not linked to the known autosomal dominant loci.</p><p><b>CONCLUSION</b>This SPG family had typical "pure" clinical symptoms. The age at onset was early and the signs in the upper limbs were more obvious than those in the lower limbs. The result of linkage analysis shows that this family represents a new SPG subtype.</p>

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.</p><p><b>METHODS</b>A Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.</p><p><b>RESULTS</b>The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.</p><p><b>CONCLUSION</b>The HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.</p>

Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).</p><p><b>METHODS</b>DNA samples from 5 HSP-TCC families were screened for mutations in AK128197, MGC14798, HH114, MEIS2, MGC35118, SPRED1, AK128458, FLJ38426, RASGRP1 and AK093014 on chromosome 15q13-15 between microsatellites D15S971 and D15S1012 by polymerase chain reaction, direct sequencing and cosegreagation analysis.</p><p><b>RESULTS</b>No disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.</p><p><b>CONCLUSION</b>This study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.</p>

Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To clone the disease-causing genes possibly existing in 6.8 cM distance between microsatellite markers D12S1720 and D12S1611 in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L (CMT2L).</p><p><b>METHODS</b>Ten positional and functional candidate genes were chosen among all known genes in this locus region by bioinformatics inqury. Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes.</p><p><b>RESULTS</b>Eleven sequence variations, that included 5 heterozygous and 6 homozygous variations, were detected in the exons and flanking areas of the 10 candidate genes. All the variations showed no co-segregation with disease phenotype.</p><p><b>CONCLUSION</b>Ten candidate genes(TAOK3, RAB35, RPLP0, PXN, RNF10, RHOF, VPS33A, RSN, DENR, RNP24) were ruled out as the disease-causing gene for CMT2L. Ten single nucleotide polymorphisms (SNP) were reported for the first time.</p>

Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L).</p><p><b>METHODS</b>The cell models which transiently expressed pEGFPN1-HSPB8 and pEGFPN1-(K141N)HSPB8 were established. The immunofluorescent co-location study of EGFP-(K141N)HSPB8 and HSPB1, EGFP-(K141N)HSPB8 and neurofilament light chain (NEFL) was carried out in the SHSY5Y cell models. The aggregate formation of EGFP-(K141N)HSPB8 in cell models was investigated and the possible mechanism of cellular aggregate formation was analyzed by t test and analysis of variance between group(ANOVA).</p><p><b>RESULTS</b>EGFP-(K141N)HSPB8 formed large aggregate which predominantly located around the nucleus in cell models. EGFP-(K141N)HSPB8 co-localized perfectly with HSPB1 and NEFL in the SHSY5Y cell models. The aggregate formation was different in different cell types, there were fewer aggregates formed in an sHSPs deficient milieu than in HEK293T cells.</p><p><b>CONCLUSION</b>(K141N)HSPB8 formed aggregates predominantly locate around the nucleus in cells. (K141N)HSPB8 co-localizes perfectly with HSPB1 and NEFL. The aggregate formation may be due to (K141N)HSPB8 conformational change leading to self aggregation and its abnormal interaction with other sHSPs such as HSPB1.</p>

Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the frequency of spinocerebellar ataxia (SCA), including the subtypes of SCA1, SCA2, SCA3/Machado-Joseph disease(MJD), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and dentatorubro-pallidoluysian atrophy (DRPLA) in Han population in the Chinese mainland, and to specifically characterize the mainland Chinese patients with SCA6 in terms of clinical and molecular features.</p><p><b>METHODS</b>Using a molecular approach, the authors investigated SCA in 120 families with dominantly inherited ataxias and in 60 patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families.</p><p><b>RESULTS</b>SCA3/MJD was the most common type of autosomal dominant SCA in the Han population, accounting for 83 patients from 59 families(49.2%), followed by SCA2(8, 6.7%), SCA1(7, 5.8%), SCA6(4, 3.3%), SCA7(1,0.8%), SCA8 (0), SCA10 (0), SCA12(0), SCA14 (0), SCA17(0) and DRPLA(0). The genes responsible for 41(34.2%) of dominantly inherited SCA families remained undetermined. Among the 60 patients with sporadic ataxias in the present series, 3(5.0%) were found to harbor SCA3 mutations while none were found to harbor SCA6 mutations. In the 4 families with SCA6, significant anticipation was found with no genetic instability on transmission.</p><p><b>CONCLUSION</b>The present authors firstly found and reported a geographic cluster of families with SCA6 subtype in the Chinese mainland, which were initially identified in Hans reported of the Chinese mainland.</p>

Research on screening and identification of proteins interacting with ataxin-3 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>This study sought to isolate and identify the proteins that interact with ataxin-3, to confirm the interacted domain, and to provide new clues for exploring the function of ataxin-3 and the pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD).</p><p><b>METHODS</b>Yeast two-hybrid screen (MATCHMAKER GAL4 Two-Hybrid System 3) and regular molecular biologic techniques were undertaken to screen human brain cDNA library with mutant ataxin-3 bait. Two baits from both normal and mutant C-terminus of ataxin-3 were created by subcloned methods to determine which domain of ataxin-3 interacts with the putative associated proteins and to find out optimal candidate proteins that interact with C-terminus of ataxin-3. Confocal microscope was used to observe whether ataxin-3 co-localized with the obtained interacting proteins in mammalian cells.</p><p><b>RESULTS</b>Five novel ataxin-3 interacting proteins were obtained, among which were three known proteins, namely human rhodopsin guanosine diphosphate dissociation inhibitor alpha, small ubiquitin-like modifier 1, and human neuronal amiloride-sensitive cation channel 2; the other two were unknown. Interacting domain analysis revealed that an unknown protein interacted with the C-terminus near the polyglutamine tract of ataxin-3, the other four all interacted with the N-terminus. In the nucleus of SH-SY5Y cell, small ubiquitin-like modifier 1 co-localized with the wild-type ataxin-3 and with the intranuclear aggregates formed by the mutant ataxin-3.</p><p><b>CONCLUSION</b>An unknown protein probably interacting with C-terminus of ataxin-3 is firstly discovered, and the initiative findings suggest first that the interaction of small ubiquitin-like modifier 1 with N-terminus of ataxin-3 and the relevant sumoylation probably participate in the post-translation modifying of ataxin-3 and in the pathogenesis of SCA3/MJD.</p>

Observation on therapeutic effect of herbs-partitioned moxibustion on Parkinson disease of 54 cases / 中国针灸

<p><b>OBJECTIVE</b>To observe clinical therapeutic effect of herbs-partitioned moxibustion at Shenque (CV 8) on Parkinson disease.</p><p><b>METHODS</b>Ninety cases of Parkinson disease were randomly divided into a treatment group (n=4) and a control group (n=36) in order of visiting. The two groups were treated with routine western medicine for treatment of Parkinson disease, and herbs-partitioned moxibustion at Shenque (CV 8) was added to the treatment group. Their comprehensive therapeutic effects were observed and modified UPDRS cumulative scores were compared.</p><p><b>RESULTS</b>The total effective rate was 83.3% in the treatment group, significantly better than 58.3% in the control group (P < 0.01); the modified UPDRS cumulative score was reduced by 74.1% in the treatment group, significantly better than 16.7% in the control group (P < 0.01).</p><p><b>CONCLUSION</b>Herbs-partitioned moxibustion at Shenque (CV 8) has a certain therapeutic effect on Parkinson disease.</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>

Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6 / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of neurodegenerative disorders. This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features.</p><p><b>METHODS</b>Using a molecular approach, we investigated SCA in 120 mainland Chinese families with dominantly inherited ataxias and in 60 mainland Chinese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 13 patients from 4 families.</p><p><b>RESULTS</b>SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%). The genes responsible for 41 (34.2%) of dominantly inherited SCA families remain to be determined. Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) was found to harbor SCA3 mutations while none was found to harbor SCA6 mutations. In the 4 families with SCA6, significant anticipation was found in the absence of genetic instability on transmission.</p><p><b>CONCLUSION</b>A geographic cluster of families with SCA6 subtype was initially identified in a mainland Chinese population.</p>

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.</p><p><b>METHODS</b>A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.</p><p><b>RESULTS</b>In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.</p><p><b>CONCLUSION</b>The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).</p>