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Background: Nemaline myopathy, the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to investigate the clinical features, muscle pathology and genetic features of 15 patients with nemaline myopathy. Results: Among the 15 patients, there were 9 (60.00%) males and 6 (40.00%) females, and 9 (60.00%) of them came from three families respectively. The age of seeing a doctor ranged from 9 to 52 years old, the age of onset was from 5 to 23 years old, and the duration of disease ranged from 3 to 35 years. Ten out of the 15 patients had high arched palate and elongated face. Only one patient had mild respiratory muscle involvement and none had dysphagia. Muscle biopsies were performed in 9 out of the 15 patients. Pathologically, muscle fibers of different sizes, atrophic muscle fibers and compensatory hypertrophic fibers could be found, and occasionally degenerated and necrotic muscle fibers were observed. Different degrees of nemaline bodies aggregation could be seen in all 9 patients. The distribution of type I and type II muscle fibers were significantly abnormal in patients with nemaline myopathy caused by NEB gene, however, it was basically normal in patients with nemaline myopathy caused by TPM3 gene and ACTA1 gene. Electron microscopic analysis of 6 patients showed that nemaline bodies aggregated between myofibrils were found in 5(83.33%) cases, and most of them were located near the Z band, but no intranuclear rods were found. The gene analysis of 15 NM patients showed that three NM-related genes were harbored, including 11 (73.33%) patients with NEB, 3 (20.00%) patients with TPM3, and 1 (6.67%) patient with ACTA1, respectively. A total of 12 mutation sites were identified and included 10 (83.33%) mutations in exon and 2(16.67%) mutations in intron. Conclusions: The clinical phenotype of nemaline myopathy is highly heterogeneous. Muscle pathology shows that nemaline bodies aggregation is an important feature for the diagnosis of NM. NEB is the most frequent causative gene in this cohort. The splicing mutation, c.21522 + 3A > G may be the hotspot mutation of the NEB gene in Chinese NM patients.

Impairment of fibrinolytic function plays an important role in the mechanism of thrombotic disorders in cancer patients. Thrombin-activatable fibrinolysis inhibitor (TAFI) has an antifibrinolytic effect as it can remove partially degraded fibrin C-terminal lysine residues and reduce plasmin formation. The purpose of this study was to investigate whether blood TAFI levels and TAFI Thr325Ile polymorphism could be a risk marker of breast cancer. The plasma TAFI antigen (Ag) level was determined using ELISA assay in 256 patients with breast cancer and 192 healthy controls. TAFI Thr325Ile (rs1926447) polymorphism was genotyped in both patients and control groups using PCR-restriction fragment length polymorphism (PCR-RFLP) and sequencing. The results showed that TAFI Ag levels were significantly higher in breast cancer patients than those in controls (100.6±15.2 and 82.7±11.2, P<0.001). TAFI Ag levels were correlated with metastasis of breast cancer (P<0.001). The ThrIle (CT) and IleIle (TT) genotypes were found more frequently in patients group compared with the control group odds ratio (OR) 2.106; (95 confidence interval, CI 1.379–3.217); P<0.001. The high-risk T alleles frequency was also higher in patients compared with healthy controls OR 1.718; (95 CI 1.316–2.243); P<0.001. The polymorphism was significantly correlated with TAFI Ag levels in either group (P<0.001). The IleIle (TT) genotype had the lowest TAFI Ag level, whereas the ThrThr (CC) had the highest one. In conclusion, the plasma TAFI levels and TAFI Thr325Ile genotypes were associated with breast cancer patients in Chinese Han populations and could be considered as the risk indicators of breast cancer.

Presents an adaptive actuator compensation control system with feedback linearization . Use of an actuator nonlinearity inverse; Analysis of closed-loop signal boundedness; Development of an adaptive control scheme for multivariable nonlinear systems; Utilization of dynamic extension for nonlinear systems not possessing a relative degree.