| Background and ObjectMetabolic myopathies comprise a clinically and etiologically diverse group of disorders caused by defects in cellular energy metabolism. Accordingly, it mainly divided into three categories:glycogen storage diseases, lipid storage myopathy and mitochondrial diseases caused by the respiratory chain impairment, each type can be divided into many clinical subtypes. Among them lipid storage myopathy (LSM) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common. The incidence of clinical metabolic myopathies is lower, and the diagnosis is restricted by muscle biopsy, electron microscopy and so on, lead to low diagnosis rate, and people’s insufficient understanding of it. As part of the metabolic myopathies can be treated and interfered, timely and accurate diagnosis for people is very important.At present, the diagnosis of metabolic myopathies is mainly through blood biochemistry, muscle biopsy and molecular genetic analysis, among which electron microscopy plays an important role. For a long time, gene analysis has been the hot topic of research at home and abroad, but due to the conditions limitation of gene mutation analysis, the method is not practical. So it is vital to look for a convenient, economy, accurate and feasible method of inspection for the diagnosis of metabolic myopathies.The purpose of this study:one is to explore the25cases diagnosed metabolic myopathies clinical characteristics, so as to enhance people’s understanding. Second is to discuss diagnostic value of AMA in the metabolic myopathies by immunohistochemistry. The third is to test the expression and significance of Bcl-2and Bax, which are apoptosis-related factors in patients skeletal muscle.Study subjectsAll the35cases were from the department of neurology in the people’s hospital of Jiaozuo from August2007to March2011. Amonge them25were confirmed metabolic myopathies by muscle biopsy and they were further divided into15cases of LSM and10cases of MELAS (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes). At the same time, We also select10cases with clinical signs of muscle weakness but without positive findings on biopsies as normal control, who were finally diagnosed with other diseases.Methods1. Giving clinical comprehensive analysis on all the grouped metabolic myopathies patients above, the observation index includes:clinical manifestations, blood biochemical, electric physiology and pathology features.2. Carrying pathology comparision on2groups above, and doing AMA, Bcl-2and Bax immunohistochemical staining of all patients’muscle frozen section.Statistical TreatmentSPSS17.0databases were established to analysize the experimental datas by χ2tests. P<0.05was considered statistically significant.Results1. The two clinical groups of the metabolic myopathies had different clinical manifestations, LSM patients mainly showed proximal muscle weakness, which gradually got worse and spread into neck muscles, causing arduous look up and difficulty swallowing. MELAS patients often had many organs damaged, and encephalopathy, visual impairment, epicophosis and diabetes were the most common.2. The pathological indexs of25cases with LSM and MELAS were as follows:2.1Skeletal muscle biopsy of LSM patients and MELAS patients all had AMA immunohistochemical expression, with positive expression rate85%and80%respectively. The AMA expressions were tan particles deposited on areas in the subsarcolemmal or within cytoplasm. In addition, the positive expression also appeared around muscle fiber empty bubble of LSM patients.2.2Bcl-2immunohistochemistry results showed positive result in muscle biopsy of LSM and MELAS patients and most of them appeared as fine articles get together on the muscle membrane. The kind of fine granular precipitate within the cytoplasm or in the subsarcolemmal region. In addition, positive expression of Bcl-2was also around small blood vessels.2.3Bax showed no expression in case group.3. The AMA, Bcl-2and Bax immunohistochemical staining of muscle tissue specimens in the control group showed no positive expression.Conclusions1. The two clinical groups with metabolic myopathies showed different clinical manifestations. LSM group mainly had muscle weakness, most spread into the proximal extremities and neck muscles, accompanied with chewing weakness, nausea, vomiting and other digestive system symptoms. MELAS patients often had many organs damaged, and encephalopathy, visual impairment, epicophosis and diabetes were the most common. The diversity of clinical symptoms, combined with the muscle pathological characteristics and medical history can provide important clues for clinical diagnosis.2. The AMA expression has important value in metabolic myopathies diagnosis, which also offers a new path for it.3. Bcl-2expression raised in the case group, proving anti-apoptosis proteins played an important role, which may be related with the protection of muscle fibers, and the role of Bax relatively weak. These factors played a role in the pathogenesis of this disease. |
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