Objective To study the clinical manifestations and pathological features of distal myopathies, we investigated 71 distal myopathy patients collected in the past 16 years.Methods Clinical manifestations and pathological features of biopsied muscle specimens were summarized and analysed retrospectively. Results Twenty-six of the 71 patients were of Nonaka type, 38 of Miyoshi type, 2 of tibial muscular dystrophy (TMD) type, 4 of Welander type, and 1 of oculophayngodistal myopathy (OPDM) type. Nonaka type is a sporadic or autosomal recessively inherited disorder with preferential involvement of the anterior tibial muscles. In the 26 patients with Nonaka myopathy, the onset age ranged from 8 to 39 years, averaging 24 years, and the disease was rather rapidly progressive. Sternocleidomastoid, biceps brachii muscle, pectoralis major muscle and quadriceps femoris were also involved as the disease advanced. The serum CK was slightly elevated or normal. Muscle biopsies showed rimmed vacuoles markedly without obvious dystrophic features. 15-20-nm cytoplasmic and nuclear filaments were usually seen on electron microscope. The patients with Miyoshi type were characterized clinically by sporadic or autosomal recessive inheritance, preferential gastrocnemius muscle involvement, and dystrophic muscle pathology. Rimmed vacuoles were occasionally seen. Average age of onset was 23 years (range of 8-41 years). As the disease advanced, patients with Miyoshi myopathy occasionally showed apparent proximal muscle involvement. Serum CK was markedly elevated, ranging from 3-180 times than the normal. Welander type was found in four cases. Onset age was from 30 to 46 years. Weakness always began in the finger and wrist extensors. As the disease progressed, symptoms were spreading to the distal lower extremities slowly. The serum CK level was normal or only slightly elevated. Muscle biopsies showed dystrophic features, with rimmed vacuoles occasionally. The oneset ages of two patients with TMD were from 41 to 42 years. Weakness was confined mainly to the anterior tibial muscle. Muscle biopsies revealed fibre necrosis and regeneration. Rimmed vacuoles were present significantly. OPDM was found in a 38-year-old-onset patient with autosomal dominant inheritance and characterized by the weakness of distal lower extremity and development of extraocular muscles, vocal cord and pharyngeal muscle weakness. Muscle biopsies showed rimmed vacuoles without fibre necrosis.Conclusion Five types of distal myopathies were present in China, and Miyoshi and Nonaka myopathies were more common. The clinical and pathological findings of Chinese distal myopthies should be basically similar to those reported by other countries.

Objective To study the characteristics of sarcoglycanopathies and their diagnostic methods.Methods On basis of dystrophin immunostaining,the muscle specimens of 25 LGMD with normal dystrophin were investigated using all four sarcoglycan (?,?,?,? sarcoglycan) antibodies by immunohistochemistry and Western blotting. Results 5 specimens showed a deficiency: one case in ? SG,two in ? SG,one in three SG,and one in all four SG.Conclusion 5 patients were diagnosed as "sarcoglycanopathies". As it is difficult to distinguish the various types of LGMD based on clinical features,the immunohistochemistry and Western blotting of all four sarcoglycan antibodies may serve as an important diagnostic tool for sarcoglycanopathies.

Objective To develop and compare the methods for determining the carrier status in the 18 deleted families of Duchenne and Becker muscular dystrophy. Methods Deletion analysis of the probands was performed by multiplex polymerase chain reaction (PCR) to amplify 9 dystrophin exons described by Chamberlain. Polymorphism linkage analysis was made on DNA with PCR amplification using primers of intragenic short tandem repeat sequences (STR44, STR45, STR49 and STR50), primers of 5′ end (5′DYS II) and primers of 3′end (MZ18, MZ19) in the members of the families. Gene dosage analysis was performed and DQ value was calculated. Results Both of deletions of exons and STR allelic fragments adjacent to the deleted exons were determined in the probands. STR allelic fragments of 6 pairs of heterozygotes, 2 pairs of homozygotes and 11 hemizygotes were detected at those loci in all of the female relatives. 13 female relatives in deleted families were assayed with gene dosage analysis. In 9 /13 female relatives DQ value was in the range of single copy and carrier status was ascertained.Conclusion Repeat sequence polymorphism as well as gene dosage analysis can potentially be used in carrier detection in the deleted families of Duchenne and Becker muscular dystrophy.

Objective To study the changes of neuronal nitric oxide synthase in skeletal muscles of Duchenne/Becker muscular dystrophies as to investigaing the pathogenesis of the disease. Methods NADPH diaphorase enzyme histochemistry and nNOS immunohistochemistry were used to analyze the muscle specimens from 36 patients with various muscular dystrophies and 10 normal controls. Results A positive staining was found in sarcolemma of both slow and fast-twitch muscle fibers, in 10 normal controls and 18 patients with non-muscular dystrophy as well as 12 LGMD and 2 FSHD; but a negative staining was found in 10 DMD, and a negative or faint staining in 9 BMD. The loss of nNOS in sarcolemma was associated with the loss of dystrophin, and exon 45～47 in dystrophin gene might be an important region for targeting nNOS to the sarcolemma. The deficiency of nNOS was associated with the severity of DMD/BMD, but no direct evidence for absence of nNOS in sarcolemma leading to the onset of muscle necrosis in DMD/BMD was detected.Conclusions nNOS is expressed at a high level in sarcolemma of normal muscle, and also expressed normally in muscles of those non-muscular dystrophy, LGMD and FSHD patients; but there appear absence or reduction expression in the sarcolemma of DMD and BMD. nNOS is involved in regulating of physiological functions of skeletal muscles and may be an important role in pathogenesis of DMD/BMD.

Proton pump inhibitor (PPI) is considered as the standard treatment for acid-related disorders. However, its long-term use, especially in patients with gastroesophageal reflux disease, would cause potential risks, such as hypergastrinemia along with reduced gastric acidity, hyperplasia of enterochromaffin cells (ECL), gastric neoplasms, rebound gastric acid hypersecretion when PPI treatment is stopped, increased oxyntic gastritis in patients with H. pylori infection, and the possible stimulation of growth of non-gastric tumours due to hypergastrinaemia. Each of these trends has led to numerous studies and evaluations on the potential risk-benefit ratio of the long-term use of PPIs, and countermeasures are being proposed for these problems.

Objective To study the clinical and pathological features of myofibrillar myopathy.Methods Clinical and pathological data of a patient with myofibrillar myopathy were anlysised retrospectively.Results The patient showed middle-aged onset,progressively proximal muscle weakness,mildly general muscle atrophy.Neurogenic changers were found in lower extremities on EMG.On mucle biopsy,cytoplasmic bodies presented in many muscle fibers in which disorganized myofibrillar networks and abnormal desmin aggregates were found,and rimmed vacuoles appeared in muscle fibers.Conclusions There is no specificity of clinical manifestation in myofibrillar myopathy.Cytoplasmic bodies,disorganized myofibrillar networks and abnormal desmin aggregates are the distinctively pathological features in myofibrillar myopathy.

The aim was to establish the differentiating model " in vitro " and observe the characteristics of human skeletal muscle cells (HSMC). This study developed an " in vitro " technique of preparing cultures of HSMC obtained from 8 normal subjects. Culture of HSMC was identified with immunohistochemistry, and the characteristics in cytobiology , cytobiochemistry and cytomorphology were observed. CK activity and protein synthesis were measured.The results showed that cultured HSMC could highly differentiate, and there was positive correlations between protein synthesis, CK specific activity and the differentiating potency of HSMC. It suggested that the in vitro differentiation process of HSMC was similar to its in vivo differentiation process.

Objective 　To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication.Methods　Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed in all patients. Results　Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extensor plantar responses, scoliosis, foot ulcers and nystagmus. EMG revealed that 77.3% of the patients had fibrillation and positive sharp potentials. 81.8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t=1.63, P＞0.05). Values of SCV and MCV for the lower limbs were not obtained in 20 patients and more than 2/3 of the patients respectively. Conclusions　The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.

Objective To describe the characteristic MR findings in the brain in patients with amyotrophic lateral sclerosis (ALS), and to assess the diagnostic value of conventional MR imaging and fractional anisotropy (FA) of diffusion tensor imaging (DTI). Methods Conventional MR imaging was performed in 14 clinically proved ALS patients and 12 age-matched normal controls. Contrast enhanced MR images were acquired in 2 patients. Axial and coronal DTI scans were performed in 10 patients and 12 normal controls with SE-EPI sequence. The b value was 1 000 s/mm 2, the number of diffusion sensitive gradient direction was 25. For quantitative assessment of the corticospinal tract (CST), FA value of bilateral CST was measured at the level of posterior limb (PL) of the internal capsule (IC) and the cerebral peduncle of the midbrain, respectively, and statistical analysis was performed. Results Focal slight low signal intensity on T 1WI and high signal intensity (hyperintense to gray matter) on T 2WI was demonstrated in 6 ALS cases (42.9%) in bilateral PL of the IC, and the high signal was longitudinally continuous from the PL to the cerebral peduncle on T 2WI coronal plane, corresponding to the course of CST. In another 8 ALS cases (57.1%), the focal slight low signal intensity on T 1WI and slight high signal intensity (isointense to gray matter) on T 2WI was revealed in bilateral PL of the IC. No abnormal contrast enhancement was detected in the 2 cases. In control group, the focal slight low signal intensity on T 1WI and slight high signal intensity (isointense to gray matter) on T 2WI was demonstrated in all 12 subjects in bilateral PL of the IC. FA values of the patient group were significantly lower than that of the control group at the level of the PL of the IC (F=7.38, P

Objective To explore the prevalence,subtype,distribution characteristics and risk factors of IBS met ROME Ⅲ criteria in local adult residents of Shanghai Songjiang area.Methods With multi-stage,stratified cluster random sampling method,from April to May in 2010,residents of45 shanghai Songjiang communities were interviewed by questionnaire survey.IBS diagnosis was based on Rome Ⅲ criteria,and the subtypes were according to Bristol stool scale.Self-rating anxiety scale (SAS),self-rating depression scale (SDS) and Athens insomnia scale (AIS) were also simultaneously finished. Results There were 7648 individuals who completed the survey with qualified questionnaires; the efficient rate was 90％. The sample size accounted about 1.62％ of total population in Shanghai Songjiang area.Total 970 patients were detected,who met the Rome Ⅲ criteria,of those 492 males and 478 females.The adjusted prevalence of IBS was 13.1％,13.8％ in males and 12.7％ in females.The ratio of male to female was 1 ∶ 0.92.There was no significant difference in detection rate between males and females (P＞0.05).The prevalence was highest in the 18 to 29 years age group (18.2％,P=0.000).IBS unsubtyped (IBS-U) was the most common type in patients who met the Rome Ⅲ criteria (45.3 ％),IBS with diarrhea (IBS-D) type was more common in male (27.0％) and IBS with constipation (IBS-C) was more common in female (19.5％).The IBS prevalence of obesity group (x2 =4.046,P=0.044),higher education group (x2=31.210,P=0.000),mental group (x2 =8.409,P =0.015),unmarried group(x2 =26.933,P =0.000) and no abdominal surgery history group(x2 =5.894,P=0.015) was higher than that of control group.The risk of IBS prevalence in those who had the history of gastrointestinal infection,abdominal surgery,taking antibiotics or analgesics increased by 5.105,3.388,2.949 and 2.811 times respectively(P=0.000).Multivariate analysis indicated that the risk of IBS prevalence was increased by 1.69 times if took more spicy food,however high-protein diet was a protective factor (OR=0.900,P=0.000).Anxiety (OR=2.452,P=0.000) and insomnia (OR=1.923,P=0.000) were also risk factors of IBS.Conclusion IBS is a common and frequently occurring disease in Shanghai Songjiang community.The history of gastrointestinal infection,abdominal surgery,taking antibiotics or analgesics,intake of more spicy food,anxiety and insomnia may be risk factors of IBS.