Observation of early clinical efficacy of unilateral biportal endoscopy technique in the treatment of lumbar postoperative adjacent segmental diseases / 中国骨伤

OBJECTIVE@#To investigate early clinical efficacy of unilateral biportal endoscopy technique for the treatment of lumbar postoperative adjacent segmental diseases.@*METHODS@#Fourteen patients with lumbar postoperative adjacent segmental diseases were treated with unilateral biportal endoscopy technique from June 2019 to June 2020. Among them, there were 9 males and 5 females, aged from 52 to 73 years old, and the interval between primary and revision operations ranged from 19 to 64 months. Adjacent segmental degeneration occurred after lumbar fusion in 10 patients and after lumbar nonfusion fixation in 4 patients. All the patients received unilateral biportal endoscopy assisted posterior unilateral lamina decompression or unilateral approach to the contralateral decompression. The operation time, postoperative hospital stay and complications were observed. The visual analogue scale (VAS) of low back pain and leg pain, Oswestry Disability Index (ODI), modified Japanese Orthopaedic Association (mJOA) score were recorded before operation and at 3 days, 3 months, and 6 months after operation.@*RESULTS@#All procedures were successfully completed. Surgical duration ranged from 32 to 151 min. Postoperative CT showed adequate decompression and preservation of most joints. Out of bed walking 1 to 3 days after surgery, postoperative hospital stay was 1 to 8 days, and postoperative follow-up was 6 to 11 months. All 14 patients returned to normal life within 3 weeks after surgery, and VAS, ODI, and mJOA scores improved significantly at 3 days and 3, 6 months after surgery. One patient occurred cerebrospinal fluid leak after operation, received local compression suture, and the wound healed after conservative treatment. One patient occurred postoperative cauda equina neurologic deficit, which was gradually recovered about 1 month after rehabilitation therapy. One patients advented transient pain of lower limbs after surgery, and the symptoms were relieved after 7 days of treatment with hormones, dehydration drugs and symptomatic management.@*CONCLUSION@#Unilateral biportal endoscopy technique has a good early clinical efficacy in the treatment of lumbar postoperative adjacent segmental diseases, which may provide a new minimally invasive, non-fixation option for the treatment of adjacent segment disease.

Efficacy of Recombinant Human Thrombopoietin and Recombinant Human Interleukin 11 for Treatment of Chemotherapy Indu-ced Thrombocytopenia in Acute Myeloid Leukaemia Patients / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To evaluate and compare the clinical efficacy and safety of recombinant human thrombopoietin(rhTPO) and recombinant human interleukin11(rhIL-11) for the treatment of chemotherapy-induced thrombocytopenia in adult acute myeloid leukaemia patients.</p><p><b>METHODS</b>Total of 96 adult acute myeloid leukaemia patients were divided into 3 groups according to randomized controlled method: rhTPO group, rhIL-11 group and control group, 32 cases in each group. The patients in rhTPO group and rhIL-11 received rhTPO of 15000 IU/d and rhIL-11 of 1.5 mg/d, respectively after the standard combined chemotherapy within 24 hours, and patients in control group, received nothing drugs to promote thrombocyte recovery. And rhTPO and rhIL-11 should be stopped when the Plt≥100× 10/L. After chemotherapy, the platelet recovery degree, duration of Plt<50× 10/L, ≥50× 10/L and ≥100× 10/L, the count of infusion thrombocytes, and incidence of adverse reactions all were compared.</p><p><b>RESULTS</b>The duration of Plt<50× 10/L was obviously less than that in control group(P<0.01). The duration of rhIL-11 was less than that in control group, but there was no statistical significance(P>0.05). As compared with that in control group, the Plt count in rhTPO and rhIL-11 groups can faster increase to Plt≥50× 10/L (P<0.01, P<0.05), among them the Plt count in rhTPO group faster increase, but there was no statistical signiticance. As compared with that in control group, the Plt count in rhTPO group and rhIL-11 group can increase to Plt≥100× 10/L (P<0.01), the Plt count in rhTPO group was more obviously increase than that in rhIL-11 group(P<0.05). The count of infusion Plt in rhTPO and rhIL-11 groups was lese than that in control group(P<0.01, P<0.05), and the count of infusion Plt in rhTPO group was less than that in rhIL-11 group(P<0.05). After using rhTPO and rhIL-11, the adverse reactions, such as low fever, induration of injection site, athralgia, nausea and vomiting occured in rhTPO group and rhIL-11 group, but all can be tolerated.</p><p><b>CONCLUSION</b>Both rhTPO and rhIL-11 can reduce the duration of thrombocytopenia and the amount of infused thrombocyte, promote platelet recovery in the patients with acute myeloid leukaemia after chemotherapy, to decreae the risk of bleeding, and reduce incidence of adverse reactions, both of them can be tolerated by patients, and rhTPO is more advantage than rhIL-11, worthy of clinical popularization and application.</p>

Differences between infiltration of mononuclear-macrophages and neutrophils during Leptospira inter-rogans infection and underlying mechanisms / 中华微生物学和免疫学杂志

Objective To understand the differences between infiltration of mononuclear-macro-phages and neutrophils during Leptospira interrogans (L.interrogans) infection and the underlying mecha-nisms. Methods Histological changes in mouse lung, liver and kidney tissues were detected using hema-toxylin and eosin (HE) staining following infection of C3H/HeJ mice with L.interrogans serovar Lai strain 56601. Infiltration of peripheral blood-derived CD11b+mononuclear-macrophages and Ly6G+neutrophils in lung,liver and kidney tissues collected form L.interrogans-infected C3H/HeJ mice was detected with immu-nohistochemistry. Levels of mononuclear-macrophage chemokines and neutrophil chemokines in serum sam-ples of L.interrogans-infected mice were detected with chemokine detection microarray. Results Lung,liv-er and kidney tissue samples collected from L. interrogans-infected C3H/HeJ mice presented typical his-topathological changes of leptospirosis, such as inflammatory cell infiltration in these tissues, pulmonary hemorrhage,extensive hepatocyte necrosis and serious nephrohemia. Results of immunohistochemical stai-ning showed that a large number of peripheral blood-derived CD11b+mononuclear-macrophages were presen-ted in lung,liver and kidney tissues of L.interrogans-infected mice, but few neutrophils could be found in these tissues. The mouse chemokine detection microarray confirmed that the levels of mononuclear-macro-phage chemokines (I-309,MCP-1,MCP-5,MIP-1α and RANTES) in serum samples of L.interrogans-in-fected C3H/HeJ mice were significantly increased during infection (P<0.05), but the neutrophil chemokines(KC,LIX and MIP-2) analyzed in this study were not notably increased (P>0.05). Conclu-sion Mononuclear-macrophages rather than neutrophils are the major infiltrating phagocytes during L.inter-rogans infection and play a crucial role in the elimination of Leptospira invasion.

Case-control study on intrasacrospinal muscular approach and posterior midline approach for the treatment of far lateral lumbar disc herniation / 中国骨伤

<p><b>OBJECTIVE</b>To compare the clinical outcomes of intrasacrospinal muscular approach and posterior midline approach in treating far lateral lumbar disc herniation.</p><p><b>METHODS</b>The clinical data of 32 patients with far lateral lumbar disc herniation underwent transforaminal lumbar interbody fusion from January 2004 to January 2011 were retrospectively analyzed. The patients were divided into intrasacrospinal muscular approach group (11 males and 6 females ) and posterior midline approach group (10 males and 5 females). All patients were followed up from 12 to 18 months with an average of 15.3 months. Operative time, blood loss, postoperative draining volume were recorded and pre-and post-operative visual analog scale (VAS) and Oswestry Disability Index (ODI) were compared between two groups.</p><p><b>RESULTS</b>Operative time, blood loss, postoperative draining volume in intrasacrospinal muscular approach group was less than that of posterior midline approach group (P < 0.05). There was no significant difference in VAS at final follow-up between two groups (P > 0.05); and the mean ODI in intrasacrospinal muscular approach group was less than that of posterior midline approach group (P < 0.05).</p><p><b>CONCLUSION</b>For the treatment of far lateral lumbar disc herniation, intrasacrospinal muscular approach has less injury for paraspinal muscle and more satisfactory clinical outcome and is better method than posterior midline approach.</p>

Advances in wound care theory and technology / 中华烧伤杂志

This paper reviews the progress in wound care research at home and abroad in recent years in regard to the aspects of wound healing theory, development of occlusive dressings, and wound care technology, etc. Wound care methods are constantly updated along with the development of medical science and technology, as well as theory and practice of nursing. Clinical nursing staff should acquire the latest knowledge of wound care, treat patients with appropriate methods of dressing and cover materials according to their conditions, and make effort to promote nutritional state, alleviate pain, and promote psychological care of patients, thus to provide patients with integral and dynamic wound care.

The role of capsaicin-sensitive primary afferents in experimental sciatic pain / 中华外科杂志

<p><b>OBJECTIVES</b>To determine the effect of destroying capsaicin-sensitive primary afferents (CSPA) fibers on paw withdrawal mechanical threshold (PWMT) induced by the direct compression of L5 nerve root with autologous disc.</p><p><b>METHODS</b>The procedure used autologous disc of the rats from the coccygeal intervertebral discs to apply direct pressure to the L5 dorsal root. PWMT was measured at the different time points post-surgery and pre-surgery. The changes in spatial expression pattern of c-fos protein in the spinal cord were also determined at 3 weeks when PWMT decreased to the peak.</p><p><b>RESULTS</b>The pretreatment with capsaicin produced a complete prevention of mechanical hyperalgesia induced by disc compression. The direct compression of L5 nerve root produced an obvious expression of fos-like immunoreactivity neurons in the dorsal horn of the spinal cord, which was significantly decreased by pretreatment with capsaicin.</p><p><b>CONCLUSIONS</b>The study shows that CSPA fibers, which mainly terminated in superficial layers of dorsal horn, may play a key role in mechanical hyperalgesia in the new sciatica model.</p>

The advances in research on phosphorylation of polyglutamine disease / 中华医学遗传学杂志

Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of a glutamine repeat in responsible gene products. To date, the pathogenesis of polyQ diseases is still not very clear, but many researches suggest that phosphorylation of mutant proteins plays a critical role on the process of Huntington's disease, dentatorubral-pallidoluysian atrophy, spinal bulbar muscular atrophy, spinocerebellar ataxia1 and spinocerebellar ataxia 3/Machado-Joseph disease.

Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome / 中南大学学报(医学版)

OBJECTIVE@#To explore the relationship between the sequence variation of the promoter region (-1543 approximately -1160) of STK11 gene and the risk of developing Peutz-Jeghers syndrome (PJS).@*METHODS@#The sequences of the promoter region of 14 PJS patients (7 patients are inherited and the other 7 patients are sporadic) and 42 normal individuals were PCR amplified and then sequenced.@*RESULTS@#A new single nucleotide polymorphism (SNP) G/T (-1275) in STK11 promoter region was identified. The frequency of genotype GG, GT, and TT was 53.3%, 26.7%, and 20%, respectively among PJS patients and 33.3%, 64.3%, and 2.4%, respectively among the normal individuals. The frequency of genotype GG and TT among patients was significantly higher than that among the normal individuals, and the frequency of genotype GT among patients was significantly lower than that among the normal individuals (chi(2)=8.521, P<0.05).@*CONCLUSION@#G/T(-1275) in STK11 promoter region is a new SNP. The genotype of this new SNP may relate to the risk of developing Peutz-Jeghers syndrome (PJS) deserve further research.

A dynamic observation on serum cytokine and immunoglobulin (IgG, IgA, IgM) in patients with esophageal cancer / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the changes of serum interleukin-2 (IL-2), interleukin-8 (IL-8) and immunoglobulin (IgG, IgA, IgM) in patients with esophageal cancer, and to probe the relationship between the levels of IL-2, IL-8, IgG, IgA and IgM and the progress of cancer.</p><p><b>METHODS</b>The serum levels of IL-2 and IL-8 were detected by enzyme-linked immunosorbent assay for 72 case of primary esophageal cancer, 68 advanced esophageal cancer and 120 healthy controls, and the level of immunoglobulin (IgG, IgA, IgM) in patients with esophageal cancer was dynamically observed.</p><p><b>RESULTS</b>The IL-2 level in patients with early esophageal cancer [(1.69 +/- 0.53) ng/ml] or late esophageal cancer [(1.11 +/- 0.60) ng/ml] was lower than the control group [(2.78 +/- 0.51) ng/ml] (P < 0.01), the late esophageal cancer group was lower than early esophageal cancer group (P < 0.05). The level of IL-8 in patients with early esophageal cancer [(85.48 +/- 6.14) ng/L] or late esophageal cancer [(121.41 +/- 6.22) ng/L] was much higher than the control group [(54.48 +/- 12.20) ng/L] (P < 0.01), the late esophageal cancer group was much higher than early esophageal cancer group (P < 0.01); There was correlation between the levels of IL-2 and IL-8 and the worsen-extent of the tumour in patients with early esophageal cancer or late esophageal cancer. But the level of IgG [(12.23 +/- 2.50) g/L], IgM [(1.60 +/- 0.80) g/L] in the patients with esophageal cancer compared with the level of IgG [(11.65 +/- 3.70) g/L], IgM [(1.46 +/- 0.71) g/L] in the health control group have no significant difference (P > 0.05), the level of IgA [(3.50 +/- 1.10) g/L] in patients with esophageal cancer Compared with the control group [(1.88 +/- 1.08) g/L] has significant difference (P < 0.01), and along with the worsen-extent of the tumor in patients the level of IgA has the increased tendency.</p><p><b>CONCLUSION</b>The IL-8 might accelerate the pathogenesis of esophageal cancer, and the IL-2 might restrain. The positive correlation between the level of IgA and the patients with esophageal cancer is observed in this study; the immune maladjustment of IL-2, IL-8 and IgA might be correlative to esophageal cancer, and the IL-2, IL-8 and IgA levels might be an available index for the severity of esophageal cancer, Which may be of some help for clinic practitioners to judge the progress, curative effect and prognosis of the cancer.</p>

The wild-type alpha-synuclein over-expression to induce the protein aberrant aggregation of alpha-synuclein in HEK293 cells in vitro / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate over-expression of wild-type alpha-synuclein inducing the aberrant aggregation of alpha-synuclein in HEK293 cell in vitro.</p><p><b>METHODS</b>The cDNA encoding the human alpha-synuclein without the stop code was cloned into PGEM T-easy vector. Using enzyme map and DNA sequencing analyzed and determined the recombinant plasmid, and then sub-clone the alpha-synuclein cDNA fragment into pEGFP-N1 vector. The recombinant plasmids alpha-synuclein-pEGFP were transfected into HEK293 cells by lipofectamin 2000. The aberrant aggregation of alpha-synuclein was measured by EGFP fluorescence, anti-alpha-synuclein immunocytochemistry. The inclusions in the cultured cells were identified with HE staining.</p><p><b>RESULTS</b>The restriction enzyme map suggested that eukaryotic expression vector for human wild-type alpha-synuclein gene was constructed successfully. By EGFP fluorescence, anti-alpha-synuclein immunocytochemistry, it could be observed that the alpha-synuclein protein could aggregate in cytoplasm and the Lewy body-like inclusions found in cytoplasm of cultured cells.</p><p><b>CONCLUSION</b>The over-expression of wild-type alpha-synuclein can induce protein aberrant aggregation and Lewy body-like inclusions formation in cytoplasm of HEK293 cell in vitro.</p>

Screening for proteins interacting with ataxin-3, the gene product of SCA3/MJD / 中南大学学报(医学版)

OBJECTIVE@#To screen for proteins interacting with ataxin-3 by yeast two-hybrid system 3, and to discuss the function of ataxin-3 and pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD).@*METHODS@#First we sub-cloned the full reading frame of both wild-type and mutant ataxin-3 into carrier pGBKT7 (ataxin-3-bait), and then screened human brain cDNA library with ataxin-3-bait.@*RESULTS@#We found five positive clones in 6.5 x 10(6) transformers. After sequencing, we knew all of them were novel ataxin-3 interacting proteins. Three were corresponded to the known sequences coding the known proteins, which were human Rho GDP dissociation inhibitor alpha, small ubiquitin-like modifier 1, and human neuronal amiloride-sensitive cation channel 2. Another two of the five were unknown.@*CONCLUSION@#Small ubiquitin-like modifier 1 probably interacted with ataxin-3, suggesting that the sumoylation probably participated in post-translation modifying of ataxin-3 and pathogenesis of SCA3/MJD.

Frequency of different subtypes of spinocerebellar ataxia in the Han nationality of Hunan province in China / 中南大学学报(医学版)

OBJECTIVE@#To determine the frequency of different subtypes of spinocerebellar ataxias (SCAs) in the Han nationality of Hunan province in China.@*METHODS@#The mutations of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, and dentatorulral-pallidoluysian (DRPLA) were detected with the polymerase chain reaction (PCR), denaturing polyacrylamide gel and DNA sequencing techniques in 139 autosomal dominant SCA families and 61 sporadic SCA patients.@*RESULTS@#Of the 139 families, 11 (7.9%) were positive for SCA1, 9(6.5%) were positive for SCA2, 71 (51.1%) were positive for SCA3, 4 (2.9%) were positive for SCA6, 2 (1.4%) were positive for SCA7, and none was positive for SCA17 and DRPLA. There was 1 SCA2 patient, 3 SCA3 patients, 1 SCA6 patient in the 61 sporadic SCA patients.@*CONCLUSION@#The frequency of SCA3 is substantially higher than that of SCA1 and SCA2 in the autosomal dominant SCA patients in the Han nationality of Hunan province. SCA6 and SCA7 are rare subtypes.

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>

Intercellular adhesion molecule-1 gene K469E polymorphism and genetic susceptibility of ischemic stroke in Chinese Zhuang populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To examine the relationship between intercellular adhesion molecule-1 (ICAM-1) gene polymorphism and ischemic stroke (IS) in Chinese Zhuang populations.</p><p><b>METHODS</b>The K469E polymorphism in the exon 6 of ICAM-1 gene was detected by polymerase chain reaction-restriction fragment length polymorphism analysis and DNA sequencing in 205 patients with IS of Zhuang nationality and in 210 healthy controls, and the serum level of ICAM-1 was determined by enzyme-linked immunosorbent assay.</p><p><b>RESULTS</b>The IS group showed significantly higher serum levels of ICAM-1 than did the control group (P < 0.01). There was significant difference in frequencies of allele and genotype in K469E polymorphism between IS and control groups, respectively (P < 0.05). The K allele carriers had 1.424 times the risk of suffering from IS as compared with the E allele carriers (OR = 1.424, 95% CI: 1.071 - 1.894); the serum ICAM-1 level of E allele carriers was significantly higher than that of K allele carriers (501.24 +/- 139.56 ng/ml vs 475.17 +/- 118.35 ng/ml, P < 0.01).</p><p><b>CONCLUSION</b>There is an association between ICAM-1 gene K469E polymorphism and IS, and E allele may be a genetic risk factor of IS among Guangxi Zhuangs, in which the ICAM-1 E allele carriers may have up-regulated expression of ICAM-1 and hence are at a higher risk of ischemic stroke.</p>

Subcellular localization and tissues expression profile of hGPCRc: an orphan G protein-coupled receptor / 生物工程学报

As a member of orphan G protein-coupled receptors (oGPCRs), hGPCRc was cloned from human colon tissue and analyzed by bioinformatic softwares. It was showed that the corresponding amino acids of hGPCRc formed seven-transmembrane domains as the key characteristic of GPCRs. Then, the recombinant GFP-hGPCRc was constructed by fussing hGPCRc into pEGFP-N1 carrying green fluorescent protein (GFP) gene, and CHO-K1 cells were subsequently transfected with the GFP-hGPCRc or pEGFP-N1. The green fluorescence protein expression in the two different transfected cells was observed under the laser scanning confocal microscopy (LSCM). It was showed that green fluorescence protein was distributed in the whole bodies of the cells transfected with pEGFP-N1, but mainly distributed on the plasma membrane and cytoplasm membrane transfected with GFP-hGPCRc. Thus, the localization on the membrane of hGPCRc was accorded with the predication by bioinformatic analysis. The expression analysis of hGPCRc by RT-PCR indicated that hGPCRc was abundantly expressed in heart, kidney, cerebel and colon etc., but absent in liver, cerebra, small intestine and muscle etc. The expressing profile of hGPCRc could provide some useful clues to understanding its effects on embryonic development and physiological functions.

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>

Construction of the eukaryotic expression vector of MJD1 and its expression in SH-SY5Y cells / 中南大学学报(医学版)

OBJECTIVE@#To construct the eukaryotic expression vector of MJD1 with normal copies of CAG trinucleotide repetition and MJD1 with CAG trinucleotide repetition expansion mutation respectively, and to determine whether the polyglutamine expansion in ataxin-3 could lead to the formation of intranuclear aggregation.@*METHODS@#The coding sequence of wild-type MJD1 and mutant MJD1 was amplified by PCR from pAS2-1-MJD20Q and pAS2-1-MJD68Q respectively. After being digested with BamH I and Hind III, the PCR products were inserted into pcDNA3. 1-Myc-His(-) B. The recombinant plasmids pcDNA3.1-Myc-His(-) B-MJD20Q and pcDNA3.1-Myc-His(-) B-MJD68Q were identified by enzyme digestion analysis and DNA sequencing. The recombinant plasmid was transfected into SH-SYSY cells and the expression of MJD1 in the transfected cells was analyzed by Western blot. The immunofluorescence of the transfected cells was examined using a confocal microscope to observe the formation of intranuclear aggregation.@*RESULTS@#Enzyme digestion analysis and DNA sequencing showed that the target gene was cloned into pcDNA3. 1-Myc-His(-) B. The expression of MJD1 in the transfected cells was confirmed by Western blot; The SH-SY5Y cells transfected with pcDNA3. 1-Myc-His(-) B-MJD68Q showed the formation of intranuclear aggregation, but the cells transfected with pcDNA3.1-Myc-His(-) B-MJD20Q did not show such phenomenon.@*CONCLUSION@#The eukaryotic expression vectors of MJD1 has been successfully constructed; The polyglutamine expansion in ataxin-3 could lead to the formation of intranuclear aggregation.