Search

Background Eccentric exercise or high tension exercise could cause damage to skeletal muscle structure, resulting in deficiency of dystrophin and secondary loss of dystrophin-glycoprotein complex (DGC) from the sarcolemma, which indicated that down-regulation of dystrophin was one of the key points of skeletal muscle injury from eccentric exercise. Duchenne muscular dystrophy (DMD) is caused by mutations of DMD gene, resulting in the absence of dystrophin, which means that skeletal muscles of DMD patients after birth are in the natural state of actual path of force transmission which carried high tension from eccentric exercise. This paper investigated systematically whether expression of DGC is associated with progressive muscle weakness in natural history of DMD, and analyzed the expression of DGC at the sarcolemma of 197 confirmed DMD cases (9 days-12 years old). Methods The expression of α- and β-dystroglycan (DG), β-, γ- and δ-sarcoglycan (SG) and syntrophin at the sarcolemma of DMD patients was analyzed by immunofluorescent staining. Results The study showed that there was no relationship between lack of proteins and progressive muscle weakness with increasing age, although expression of α-and β- dystroglycan- DG, α, β-, γ- and δ-SG and syntrophin at the sarcolemma at different stages of 197 DMD patients (9 days --12 years old) had different degrees of deficiency. Conclusions Deficiency of DGC may occur before birth and DMD patients were recommended to avoid further damage to skeletal muscles from eccentric exercise and high-resistance movement in activities of daily life and rehabilitation training. [ABSTRACT FROM AUTHOR]

Background China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD). Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation. Methods A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU) during the period of August 2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis, geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiac and respiratory function, steroid treatment and rehabilitation intervention. Results There were 194 DMD and 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients were diagnosed at the age of > 3-4 (16.59%, 38/229) and > 7-8 (14.85%, 34/229) years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46% (127/194) and 74.29% (26/35)], respectively. Patients with a family history accounted for 23.14% (53/229). The rate of DMD registrants losing walking capability was 17.53% (34/194), and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29% (106/229) DMD/BMD boys and respiratory functions were examined in 17.90% (41/229) DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/(kg ⋅ d) was 26.29% (51/194). Conclusions This database describes in detail the genotype, clinical manifestation, diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management, but also will make significant contribution to the development of clinical trials, prospective therapeutic research and better management of DMD/BMD patients and families in China. [ABSTRACT FROM AUTHOR]

Objective: To study the clinical and genetic characteristics of generalized epilepsy with febrile seizures plus (GEFS)., Methods: Data of two probands of the disease were collected through outpatient clinic. DNA was extracted from peripheral blood leukocytes using RelaxGene Blood DNA System. Twenty-six exons of SCN1A were amplified by polymerase chain reaction (PCR), the PCR products were screened by denaturing high performance liquid chromatography (DHPLC), then the abnormal fragments were sequenced by Sanger method in order to find the mutations of SCNIA gene., Results: (1) There were 28 affected individuals in the two families of GEFS+ (14 males and 14 females). Febrile seizures (FS) were present in 7 cases, febrile seizures plus (FS+) in 6 cases, FS+ and absence seizures in 1 case, FS+ and myoclonic seizures in 1 case, uncertain type in 13 cases. No severe phenotype was seen. Bilineal inheritance occured in one GEFS+ family. (2) A samesense mutation (c. 1212A > G) of SCN1A gene was found in the proband and an unaffected individual of pedigree B of GEFS., Conclusions: (1) GEFS+ is a syndrome with the characteristics of heterogeneous clinical phenotypes; bilineal inheritance suggests the possibility of complex inheritance with additive gene effects. (2) Our study failed to provide evidence supporting a causal relation between the SCN1A mutation and the etiologic gene in the GEFS+ family B, which indicates that GEFS+ has the phenotypic and genotypic heterogeneity.

Objective: To explore the prevalence and characteristics of chronic headache in children and adolescents in Shanghai and to collect messages concerning the impact and compliance of medication for migraine., Methods: A population-based questionnaire study was conducted among subjects 6 - 15 years of age sampled from primary and junior high schools in Shanghai and the subjects were followed up., Results: (1) The prevalence: 8701 (88.6%) out of 9857 pupils responded to the questionnaire; 17% of the respondents had headache and in 86.4% of them the reason of headache was unknown. The prevalence of chronic headache in Shanghai children and adolescents was 7.8%, there was no significant difference between both genders (chi(2) = 0.010, P > 0.05). (2) The prevalence of chronic headache increased with age, the incidence was higher in boys before 12 years of age, while higher in girls after 12 years of age. (3) Characteristics of chronic headache: the proportion of unilateral, bilateral and headache of unknown site was similar; in most of the cases headache was localized in the temple (35.2%) and forehead region (25.6%), the duration of headache was short, always accompanied by gastrointestinal symptoms. Half of the patients reported that the headache had affected their study and daily life. (4) The status of using health care facilities: 24% of the students sought medical assistance during their headache episodes and among them only 30.9% took medicine. (5) Over-fatigue (51.4%), followed by insufficient sleep (40.4%), emotional changes (38.5%) were the main aggravating factors. The headache was also associated with positive family history and stress in studying., Conclusions: Headache is a common complaints of children, affecting the patients' study and daily life. But many patients with headache were not treated properly, therefore, the medical and educational sectors and the society should pay more attention to this problem.

Objective: To study the clinical characteristics of myasthenia gravis (MG) in children and the changes in AchR-Ab-seronegative (SNMG) MG and AchR-Ab-seropositive MG (SPMG) patients., Methods: The study was done on 77 MG patients who were diagnosed at The Pediatric Hospital, Fudan University from 1992 to 2002. This clinical trial was a non-randomized, controlled open study., Results: (1) The age of onset ranged from 3 months to 16 years, and the most common ages of onset were before 3 years; 32 cases were males and 45 females. The extraocular muscles were more frequently involved. According to the modified Osserman's criteria, 54 patients (70%) were classified as type I, 21 cases (27%) as type II and 2 cases (3%) as type III. (2) Eighteen of 55 cases (35%) were positive for anti-acetylcholine receptor antibodies (AchRab) and 16 of 55 cases (31%) were positive for acetylcholine premembrane receptor antibody (PremRab) on the initial examination. The clinical state of the patient during the examination did not show any clear correlation with the level of these antibodies. There was no significant difference between clinical type and AchRab positive rate among the three groups. Two of 18 patients (11%) were positive for thymoma associated antibody (Tintinab). The serological test on follow-up showed that 6 of 10 SNMG cases (60%) turned to be SPMG. In 85% of the cases the results of CD cells examination was abnormal, most of them showed reduced levels of CD4(+) or CD3(+) and CD8(+). (3) The thymus proliferation was found in 22 patients (42%) by CT and changes of thymoma were found in 2 cases (4%) and were confirmed by operation. (4) In 50% of the cases the electromyography (EMG) was abnormal. (5) After anticholinesterase drugs and steroids treatment the prognosis of patients with MG was usually good., Conclusions: MG in our children's hospital has increased, the age of onset became younger, and type II MG cases increased. Seronegative patients could turn positive, so monitoring the patient's serology is helpful for finding more SPMG cases. Steroids have been proven effective and safe in treatment of MG in children. Patients in methylprednisolone group experienced less side effects of steroid therapy than group treated with oral prednisone.