2.Congenital myopathy with type 1 fiber predominance in two children.
Meng-Chuan LUO ; Qiu-Xiang LI ; Wei-Fan YIN ; Wei-Wei DUAN ; Fang-Fang BI ; Ning ZHANG ; Jing-Hui LIANG ; Huan YANG
Chinese Journal of Contemporary Pediatrics 2011;13(6):499-502
Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.
Diagnosis, Differential
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Female
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Humans
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Infant
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Male
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Muscle, Skeletal
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pathology
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Myopathies, Structural, Congenital
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diagnosis
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pathology
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therapy
3.miRNA expression change of differentiation of mice marrow mesenchymal stem cells into adipocytes.
Hong-Yan LING ; Ge-Bo WEN ; Bi HU ; Shui-Dong FENG ; Kai-Fang ZHANG ; Si-Si YANG ; Jian-Qin HE ; Wei-Lan YIN ; Duan-Fang LIAO
Chinese Journal of Applied Physiology 2011;27(4):391-395
OBJECTIVETo explore miRNA expression change of differentiation of mice marrow mesenchymal stem cells (MSCs) into adipocytes, which lay the foundation for further studies on molecular mechanism of miRNA regulating the differentiation of MSCs into adipocytes.
METHODSC57BL/6 mice MSCs were isolated, cultured through the whole bone marrow method, amplified by the differential adherent method. Cell growth was observed by morphology and the expression of superficial antigen CD29, CD44, CD34 were detected through immunohistochemistry. MSCs was induced to differentiation into adipocytes with adipocyte differentiation medium, and adipogenic differentiation of MSCs was analyzed by oil Red O staining. MicroRNA microarray was used to investigate the differentially expressed miRNAs in MSCs and adipocytes.
RESULTS(1) The fifth passage of MSCs had high purity under an inverted m icroscope. Immunohistochemistry staining showed that CD29, CD44 were positive and CD34 was negative in more than 90% MSCs. There were a large number of lipid droplets in cytoplasm after MSCs were induced with adipocyte differentiation medium, Oil O staining was positive. (2) The microarray experiment showed that 75 differentially expressed miRNAs were obtained in adipocytes compared with MSCs, 20 up-regulated and 55 down-regulated miRNAs were observed among them.
CONCLUSIONThere was a expression change of miRNA of differentiation of MSCs into adipocytes, some miRNAs might play important roles in MSCs adipogenic differentiation.
Adipocytes ; cytology ; Animals ; Bone Marrow Cells ; cytology ; Cell Differentiation ; physiology ; Cells, Cultured ; Male ; Mesenchymal Stromal Cells ; cytology ; Mice ; Mice, Inbred C57BL ; MicroRNAs ; metabolism ; physiology
4.Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy.
Kun HUANG ; Yi-En LUO ; Qiu-Xiang LI ; Hui-Qian DUAN ; Fang-Fang BI ; Huan YANG ; Yue-Bei LUO
Chinese Journal of Contemporary Pediatrics 2018;20(10):804-808
This article reports two cases of childhood-onset nemaline myopathy diagnosed by muscle pathology and genetic diagnosis. The two patients had onset in early childhood, with muscle weakness as the first manifestation, as well as long disease duration and slow progression. Gomori staining and hematoxylin-eosin staining showed red-stained rods in the sarcoplasmic cytoplasm and sarcolemma under a light microscope. Electron microscopy showed that the dense nemaline rods were located under the muscle fiber sarcolemma and parallel to the long axis of the muscle fibers, and some muscle fiber myofilaments were dissolved and necrotic. Gene testing found that one of the two patients had heterozygous mutation (c.1013A>C) in the ACTA1 gene, and the other had compound heterozygous mutation (c.18676C>T and c.9812C>A) in the NEB gene. The two mutations were more common in nemaline myopathy. Nemaline myopathy is a recessive or dominant inheritance myopathy, in which the nemaline rod in the cytoplasm of myocytes is a characteristic muscle pathological change. Pathological and genetic diagnosis is the gold standard for diagnosis of nemaline myopathy.