A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in . A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrophinopathy database using the National Rare Diseases Registry System of China.

[Diagnosis of Muscular Dystrophy Using Western Blot with Micro-sample of Muscle].

Objective: To diagnose muscular dystrophy using Western blot (WB) by improving the method of the protein extraction.

Method: Firstly,we compared the effect of different sample buffer solutions and processing Methods on the extraction of muscle protein in rats,then selected the appropriate extracting method and the process of the muscular protein.

Results: We put the selected sample buffer into the micro-sample,then mixed.

[The clinical and muscular pathological study of dermatomyositis with perifascicular atrophy changes].

Objective: To investigate the clinical and pathological characteristics of dermatomyositis with muscular perifascicular atrophy (PFA).

Methods: A series of 104 consecutive patients clinically and pathologically diagnosed as dermatomyositis by muscle biopsy in our laboratory from December, 2003 to August, 2011, were enrolled in this study. Muscle biopsy of all the enrolled patients had shown PFA of muscle fibers.

[Clinical features and genetic diagnosis of Kennedy disease].

Objective: To outline the clinical features of Kennedy disease in Chinese patients.

Methods: The peripheral blood was collected from the male lower motor neuron disease patients of our inpatients and outpatients from July 2005 to September 2008. Then the genome DNA was extracted and the target gene amplified by polymerase chain reaction and sequenced.

Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease.

[Clinical and pathological features of glycogen storage disease type III].

Objectives: To summarize the clinical and pathological features of glycogen storage disease (GSD) type III.

Methods: The clinical data of 12 GSD type III, 8 males and 4 females, aged 2 - 27, were collected. The biopsy specimens of quadriceps muscle of thigh underwent HE and histochemical staining and light and electron microscopy.

[Effect of pregnancy and spontaneous delivery on the morphology of levator ani muscle and expression of vaginal nerve fibers].

Objective: To investigate the effect of pregnancy and spontaneous delivery on the morphologic characteristics of the levator ani muscle and innervation of the vaginal mucosa.

Methods: Eight nullipara without pelvic floor dysfunction (PFD) and 64 normal primipara undergoing spontaneous delivery were enrolled in this study during July to December 2006 in Peking Union Medical College Hospital. Biopsy specimens of levator ani muscle (LAM) and anterior and posterior vaginal walls were obtained from the puerpera as well as from the 8 nullipara undergoing vaginal operation.

[Study of morphological changes in levator ani muscle of patients with stress urinary incontinence or pelvic organ prolapse].

Objective: To investigate the morphological characteristics of levator ani muscle in patients with stress urinary incontinence (SUI) or pelvic organ prolapse (POP) and to explore whether the alterations could contribute to pathogenesis of the diseases.

Methods: Biopsy specimens of levator ani muscle were obtained from 15 patients with SUI, 19 patients with POP and 3 asymptomatic controls with rectal cancer during operation. The structure of levator ani muscle was examined with routine histological techniques: HE staining, modified Gomori trichrome staining, NSE staining, ACP staining, and adenosine triphosphatase (ATPase) staining.

[Study of morphological changes in levator ani muscle of patients with stress urinary incontinence].

Objective: To observe the the histological changes of levator ani muscle in patients with stress urinary incontinence (SUI) or pelvic organ prolapse (POP) and to determine the alteration that contributed to pathogenesis.

Methods: Biopsy specimens of levator ani muscle were obtained from 15 patients with SUI, 19 patients with POP and 3 asymptomatic control with rectal cancer during operation. Levator ani muscle's structure was examined with routine histological techniques.