Objective To investigate relationship between utrophin and dystrophin in muscle of patients suffered from several neurological muscular diseases.Methods Muscle biopsies of 26 cases of patients suffered from 8 categories neurological muscular diseases and 2 cases of control were analysed for utrophin and dystrophin by immunofluorescence experiments.Results In a majority of Duchenne muscular dystrophy (DMD) patients,their sarcolemma revealed absent,weak or discontinuous fluorescence for dystrophin.In non-DMD muscular dystrophies,lipid storage myopathy,myotonic dystrophy,inflammatory myopathies, neurogenic amyotrophy, polymyositis, mitochondrial encephalomyopathy, myogenic amyotrophy,immunofluorescence reactivity for dystrophin were strongly exhibited in entire sarcolemma.In normal biopsy sample,strong immunofluorescence reactivity for dystrophin was identified in entire sarcolemma,while weak and discontinuous fluorescence was identified on a minority of sarcolemma of DMD patients with severely reduced dystrophin.There was no immunofluorescence reactivity for utrophin in sarcolemma of DMD patients with moderate decreased dystrophin,non-DMD muscular dystrophies and other 6 categories of neurological muscular diseases,nor in sarcolemma of normal biopsies.Conclusions utrophin is expressed in sarcolemma of DMD patients,who have severely reduced dystrophin simultaneously. utrophin is absent in sarcolemma of other categories of neurological muscular diseases including non-DMD muscular dystrophies with normal dystrophin expression and DMD patients with moderately decreased dystrophin.

Adolescent ; Child ; Diagnosis, Differential ; Dystonic Disorders ; diagnosis ; drug therapy ; physiopathology ; Female ; Humans ; Male

ObjectiveTo probe the clinical features,diagnosis and treatment of idiopathic generalized myokymia.MethodsSeven patients with idiopathic generalized myokymia were analysed retrospectively.ResultsAll 7 patients showed prominent myokymia characterized by undulating and vermicular movements spreading across the muscle surface. The myokymia in gastrocnemius muscles in all cases. The myokymia also appeared in both upper extremities in 5 patients,and in faces,waist,back,abdomen and all extremities in 2 patients. Muscle rippling movement was induced and increased by exercise,and persistent during sleep. The vermicular myokymia could be observed easily in the relaxation of the muscles. Electromyography tests showed myokymic discharges in 5 patients,but normal in 2 patients. 5 patients of them were cured with carbamazepine and phenytoin sodium.ConclusionThere are typical clinical features and effective treatment in the patients with idiopathic generalized myokymia.

0.05).Conclusions The expression of myostatin gene mRNA is increased in myotonic dystrophy.Up-regulated expression of myostatin in skeletal muscle might be associated with the mechanism of myotonic dystrophy.

OBJECTIVETo investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).

METHODSFive patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations.

RESULTSAll the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2.

CONCLUSIONThis is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Distal Myopathies ; enzymology ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Multienzyme Complexes ; genetics ; Mutation ; genetics ; Mutation, Missense ; genetics ; Young Adult

Dural enhancement detected by magnetic resonance imaging is a common finding in patients with cerebral venous sinus thrombosis (CVST) and is usually interpreted as a change secondary to CVST. We report two cases of CVST with intense and diffuse dural enhancement that resulted from pachymeningitis in one patient and spontaneous intracranial hypotension in another. Pachymeningitis and spontaneous intracranial hypotension were also determined to be the underlying causes of CVST. The clinical data of these two patients are described. In patients with CVST, dural enhancement is not always a secondary change to CVST. It can be a manifestation of the underlying causes of CVST. When diffuse and intense dural enhancement is revealed, sufficient ancillary tests are warranted to rule out other potential pathological changes of the dura mater those can result in CVST.
Adult ; Dura Mater ; pathology ; Female ; Humans ; Hypotension ; etiology ; Magnetic Resonance Imaging ; methods ; Meningitis ; etiology ; Sinus Thrombosis, Intracranial ; drug therapy ; etiology

OBJECTIVETo investigate effect of CD4(+) CD25(+) Foxp3(+) Tregs in the treatment of autoimmune myositis (EAM) in mice and explore the possible mechanisms.

METHODSMouse models of EAM were divided randomly into model group and treatment group, and the latter received infusion of CD4(+) CD25(+) Foxp3(+) Tregs separated from normal mouse spleen by magnetic activated cell sorting. The changes of muscle pathology was observed, and the expression of PD-1 and CTLA-4 in spleen CD4(+) CD25(+) Foxp3(+) Tregs was analyzed using flow cytometry; peripheral blood IL-10 and TGF-β levels were tested using double antibody sandwich ELISA.

RESULTSCompare with the model group, the mice in the treatment group showed significantly reduced muscular inflammatory cell infiltration, increased blood levels of IL-10 and TGF-β (P<0.05), and increased expression of PD-1 and CTLA-4 in spleen CD4(+) CD25(+) Foxp3(+) Tregs (P<0.05).

CONCLUSIONCD4(+) CD25(+) Foxp3(+) Tregs reinfusion produces therapeutic effect in mice with EAM by increasing peripheral blood IL-10 and TGF-β levels and PD-1 and CTLA-4 expressions in spleen CD4(+) CD25(+) Foxp3(+) Tregs.

Animals ; Autoimmune Diseases ; immunology ; CTLA-4 Antigen ; metabolism ; Cell Separation ; Cell- and Tissue-Based Therapy ; Disease Models, Animal ; Flow Cytometry ; Interleukin-10 ; blood ; Mice ; Myositis ; immunology ; Programmed Cell Death 1 Receptor ; metabolism ; Spleen ; immunology ; T-Lymphocytes, Regulatory ; immunology ; Transforming Growth Factor beta1 ; blood

BACKGROUNDDermatomyositis (DM) and polymyositis (PM) are common inflammatory myopathies whose immunopathogenic mechanisms remain poorly understood. The NOD-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome is a type of cytoplasmic multiprotein inflammasome and is responsible for the activation of inflammatory reactivations. Responding to a wide range of exogenous and endogenous microbial or sterile stimuli, NLRP3 inflammasomes can cleave pro-caspase-1 into active caspase-1, which processes the pro-inflammatory cytokines pro-interleukin (IL)-1β and pro-IL-18 into active and secreted IL-1β and IL-18. The NLRP3 inflammasome is implicated in infectious and sterile inflammatory diseases. However, it remains unclear whether it is involved in the pathogenesis of DM/PM, which we aim to address in our research.

METHODSIn this study, 22 DM/PM patients and 24 controls were recruited. The protein and RNA expression of IL-1β, IL-18, NLRP3, and caspase-1 in serum and muscle samples were tested and compared between the two groups.

RESULTSThe serum IL-1β and IL-18 levels were significantly higher in DM/PM patients than those in the controls by enzyme linked immunosorbent assay (ELISA, DM vs. control, 25.02 ± 8.29 ng/ml vs. 16.49 ± 3.30 ng/ml,P < 0.001; PM vs. control, 26.49 ± 7.79 ng/ml vs. 16.49 ± 3.30 ng/ml,P < 0.001). Moreover, the real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR) showed that DM/PM patients exhibited higher RNA expression of IL-1β, IL-18, and NLRP3 in the muscle (for IL-1β, DM vs. control, P= 0.0012, PM vs. control, P= 0.0021; for IL-18, DM vs. control, P= 0.0045, PM vs. control, P= 0.0031; for NLRP3, DM vs. control, P= 0.0017, PM vs. control, P= 0.0006). Moreover, the protein expression of NLRP3 and caspase-1 in muscle samples of DM/PM patients were also significantly elevated compared to that in the muscles of the controls.

CONCLUSIONSOur findings demonstrate that the NLRP3 inflammasome is implicated in the pathogenesis of DM/PM. High NLRP3 expression led to elevated levels of IL-1β and IL-18 and could be one of the factors promoting disease progress.

Adult ; Caspase 1 ; analysis ; genetics ; Dermatomyositis ; etiology ; Female ; Humans ; Inflammasomes ; physiology ; Interleukin-18 ; analysis ; genetics ; Interleukin-1beta ; analysis ; genetics ; Male ; Middle Aged ; NLR Family, Pyrin Domain-Containing 3 Protein ; analysis ; genetics ; physiology ; Polymyositis ; etiology

Objective To elucidate the electrophysiological features of POEMS syndrome. Methods We retrospectively analyzed the electrophysiological findings of 22 patients of POEMS, and compared their results with those of 22 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Results Compared with the CIDP group, the motor nerve conduction velocity was decreased in the POEMS group, but the difference was not significantstatistically (P>0.05); whereas, distal motor latency (DML) was significantly decreased (P<0.05), and terminal latency index (TLI) was significantly increased (P<0.05). The incidence rate of the nerve conduction block in the POEMS group was lower than that in the CIDP group (P<0.05). Compound muscle action potential (CMAP) of the tibial nerve was decreased significantly in the POEMS group as compared with the CIDP group (P<0.05), whereas CMAP of the median nerve was not significantly different (P>0.05). Abnormal electrophysiology was frequently observed in muscles of lower limbs in the POEMS group, and in comparison of upper limbs, the difference was not significant statistically (P<0.05).Conclusion In POEMS syndrome, slowing of nerve conduction velocity is more predominant in the intermediate segments of the peripheral nerve, and conduction block is rare. Abnormal nerve conduction may be correlated with limbs.

OBJECTIVETo compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population.

METHODSThe clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively.

RESULTSThe patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases. The patients showed mild to moderate elevation of the muscle enzymes by one to three folds, and the familial patients had more significant elevation than the sporadic ones. No correlation was found between the disease duration and the level of muscle enzymes. The pathological findings were similar between the cases, and Gomori staining showed rimmed vacuoles and inclusion bodies without inflammatory cell infiltration. Follow-up results of 29 cases showed no significant difference between the two groups. The disease was slowly progressive and severely affected the quality of life of the patients, but did not produce obvious effect on the life expectancy.

CONCLUSIONThe clinical, pathological and laboratory data of Chinese DMRV patients are basically similar to those of Japanese cases. Sporadic cases tend to show more dysmorphic features than the familial ones, and occasional sporadic cases have early disease onset in early childhood.

Adult ; Asian Continental Ancestry Group ; Distal Myopathies ; classification ; genetics ; pathology ; Female ; Humans ; Inclusion Bodies ; pathology ; Male ; Pedigree ; Retrospective Studies ; Vacuoles ; pathology ; Young Adult