ObjectiveTo systematically review the therapeutic effects and safety of glucocorticoids (GC) for Duchenne muscular dystrophy (DMD). MethodsDatabases such as PubMed, EMbase, CENTRAL, CNKI, WanFang Data, VIP and CBM were electronically searched from the establishment of the databases till December 2011. All randomized controlled trials (RCTs) about GC for DMD were included. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data, and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.0.2 software. ResultsA total of 6 studies involving 303 DMD children were included. The results of meta-analysis showed that after 6 month treatment of GC (deflazacort), patients' symptoms were obviously improved in average muscle strength, lift weight ability, forced vital capacity (FVC) of the lung, emotional factor scores and total scores in Quality of life (QoL), Gower's time, nine meters walking time (T9 m), and four-stair climbing time (T4 s). However, the trial group showed more weight gain, behavioural changes, increased appetite, cushingoid appearance, and excessive hair growth. The incidences of osteoporosis/fracture, hypertension, diabetes, and cataract were not increased. ConclusionGC could improve muscle strength and function, stabilize pulmonary function, prolong independent walk time, and improve QoL of DMD patients. However, adverse reaction caused by GC should be taken caution.
ObjectiveMitochondrial encephalomyopathy is a series of diseases that drag in central nervous system and generalized muscles. The pathogenesis of the disease is lack of ATP for the dysfunction of mitochondria. The misdiagnosis rate of the disease is high and the purpose of this study is to improve the recognition and diagnosis of mitochondrial encephalomyopathy and thus, clinicians could take rational treatment in time and improve patients' prognosis. MethodsThe clinical data of 11 patients with mitochondrial encephalomyopathy were analyzed including the physical data, clinical presentations, laboratory data, neuroimaging findings, muscle biopsy, genetic testing, treatment and prognosis. Reviewing literature and summarizing the clinical characteristics of mitochondrial encephalomyopathy. ResultsAmong the 11 patients with mitochondrial encephalomyopathy, the mean age was 17 years old. 1 case had family history. 7 cases were misdiagnosed in the first clinic visit. The onset of the 11 cases, 9 were paroxysmal and 2 were hidden. In the course, 10 cases had an epileptic seizure. Among the 9 cases who took the determination of serum lactate, 8 was in high level.9 cases had MRI examination and all found abnormality, 10 patients had EEG examination, and 9 cases found abnormality, 6 cases had muscle biopsy and all found the ragged red fiber(RRF). 6 cases had molecular genetic testing, and all found mutations in mitochondrial DNA. Among the 10 cases who had epileptic seizure, 3 cases can be controlled with single kind of antiepileptic drug. The other 7 cases had a recurrence of epilepsy with single kind of antiepileptic drugs, but can be cotrolled after drug adjusting or drug combination. ConclusionMitochondrial encephalomyopathy is often accompanied by seizure, which is usually found in children, and also often accompanied by systemic muscle symptoms. The clinical manifestations of the disease is not typical, but is complex and varied symptoms, so the clinical misdiagnosis rate is high. Mitochondrial encephalomyopathy mainly involves the main intracranial artery distribution area (parietal lobe, temporal lobe, occipital lobe, etc.) in central nervous system, and can involve more than one part. Patients with mitochondrial myopathy brain are usually detected the elevation of serum lactate levels, but if the lactic acid level is normal, it does not rule out the possibility of the disease, the confirmation of the disease is mainly by muscle biopsy or genetic tests. There is no specific treatment for mitochondrial encephalomyopathy till now, and it still give priority to symptomatic treatment. And the prognosis is poorer.