SFN-SIQ, SFNSL and skin biopsy of 55 cases with small fibre involvement.

Unlabelled: Purpose/aim of the study: To date, there are no validated screening scales for small fibre neuropathy. This study investigated the small-fibre neuropathy and the symptom inventory questionnaire as well as the small fibre neuropathy screening list for small fibre neuropathy diagnosis.

Methods: Fifty-five patients were divided into small fibre neuropathy and mixed fibre damage groups.

A new modified animal model of myosin-induced experimental autoimmune myositis enhanced by defibrase.

Introduction: We investigated the effect of defibrase (a proteolytic enzyme extraction of Agkistrodon halys venom) on experimental autoimmune myositis (EAM) in guinea pigs and explored the option of using a modified pig model of EAM to enhance the study of this disease.

Material And Methods: Guinea pigs were divided into 3 groups: group A (control group) was immunized with complete Freund adjuvant (CFA), then received 6 injections of saline weekly; group B (EAM group) was immunized with partially purified rabbit myosin emulsified with CFA, then received an injection of saline; group C (EAM + defibrase group) was immunized with purified rabbit myosin emulsified with CFA, then received an injection of defibrase. The animals were observed for their general health condition and the body weight was measured daily.

Clinicopathologic features of sporadic inclusion body myositis in China.

This study is to investigate the clinical and pathologic features of sporadic inclusion body myositis (sIBM) in China. We retrospectively evaluated the clinical and pathological features of consecutive patients in our department between January 1986 to May 2012. Total 28 cases of sIBM (20 males, 8 females, mean age was 56.

CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy.

Objective: Dysferlin is a sarcolemmal protein that plays an important role in membrane repair by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). Patients with dysferlinopathy also show muscle inflammation, which often leads to a misdiagnosis as inflammatory myopathy.

[Regulatory T cells in the treatment of autoimmune myositis in mice: efficacy and mechanism].

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

Methods: Mouse 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.

Chronic progressive external ophthalmoplegia with inflammatory myopathy.

Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is extremely rare. We report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptosis and limitation of eye movements manifested dysarthria, dysphagia and neck muscle weakness for 3 years.

[Clinical, electrophysiological and skin biopsy studies of peripheral neuropathy with small fibers involvement: a report of 34 cases].

Objective: To explore the relationship between clinical features, electrophysiology and intraepidermal nerve fiber density (IENFD) in peripheral neuropathy with small fibers involvement and determine the diagnostic value of 13-item small-fiber neuropathy and symptoms inventory questionnaire (SFN-SIQ) and neuropathy symptom score [lower limb] (NSS [LL]) in small fiber neuropathy (SFN).

Methods: A total of 34 consecutive patients with peripheral neuropathy with symptoms of small fibers were enrolled and divided into two groups of small fiber injury and small and large fiber injury.SFN-SIQ, NSS [LL] and neuropathy disability score [lower limb] (NDS [LL]) were administered.

Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests.

Proteomic study of sporadic inclusion body myositis.

Background: Sporadic inclusion body myositis (s-IBM) is the most commonly occurring acquired inflammatory myopathy in elderly people (>45 years); however, pathogenic mechanisms are poorly understood and diagnostic tools are limited. In view of this, new therapeutic and diagnostic molecular markers for s-IBM need to be identified.

Experimental Design: In this study, the proteomes from three s-IBM cases were compared with those from three cases of neurogenic muscular atrophy (control).

Electrophysiological characteristics of polyneuropathy in POEMS syndrome: comparison with CIDP.

Objective: The purpose of this study was to evaluate the electrophysiological characteristics of polyneuropathy in POEMS syndrome.

Methods: A total 46 patients with POEMS syndrome and 46 patients with chronic inflammatory demyelinating polyneuropathy (CIDP) were included in this study. Six nerve conduction parameters including (1) motor conduction velocity, distal compound muscle action potential; (2) conduction block and temporal dispersion; (3) motor distal latency; (4) F wave; and (5) sensory conduction velocity were reviewed for the subjects in both POEMS and CIDP groups.

[Role of C5b-9 expression in skeletal muscle blood vessels in necrotizing myopathy].

Objective: To investigate the expression of C5b-9 in the skeletal muscle blood vessels in patients with necrotizing myopathy and explore its role in the pathogenesis of this disease.

Methods: The expression of C5b-9 and MHC-I in the skeletal muscular fibers and blood vessels in 4 patients with necrotizing myopathy was detected using enzymohistochemistry and immunohistochemistry.

Results: Focal or dispersive necrotic muscle fibers with obvious phagocytosis were observed in all the 4 patients.

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

Objectives: Distal myopathy with rimmed vacuoles (DMRV) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients.

Methods: We retrospectively reviewed the medical records of 37 patients with DMRV in PLA General Hospital from 1986 to 2011, and further conducted a review of 16 reported Chinese DMRV patients from other hospitals.

[Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data].

Objective: To 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.

Methods: The 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.

Results: The 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.

[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy].

Objective: To explore the mRNA expression of MyoD gene in the skeletal muscles of myotonic dystrophy (MD) patients.

Methods: Muscle biopsy specimens were obtained from the biceps muscles of arm of 4 MD patients and 4 healthy controls. Semi-quantitative reverse transcription polymerase chain reaction was performed to evaluate the mRNA expression of MyoD in the specimens.

[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

Objective: To construct and investigate the cell model of a novel mutation R675Q in the skeletal muscle Na channel type 4 alpha subunit gene (SCN4A) identified from a Chinese family with normokalemic periodic paralysis.

Methods: cDNA encoding the adult isoform of SCN4A was used as a template for in vitro site-directed mutagenesis by PCR method. The mutated plasmid was transiently transfected into HEK-293 cells by calcium phosphate precipitation.

The effect of lumbrokinase on P-selectin and E-selectin in cerebral ischemia model of rat.

Purpose: To find the effect of lumbrokinase (LK) on P-selectin and E-selectin in ischemic rats.

Methods: Male healthy Spragur-Dawley rats weighing 180-220 g (n = 90) were divided into 4 groups: (1) normal control group (n = 5), (2) sham-operated group (n = 35), (3) ischemic group (n = 35), (4) LK group (n = 15). LK 10 mg/kg (2000 UK activity of LK) was given by intraperitoneal injection in the LK group 30 minutes before experiment.