Objective To analyze the clinical,myopathological and genetic features in 5 female manifesting carriers of Duchenne muscular dystrophy (DMD).Methods The age of onset of these 5 patients were from birth to 54 years old,one of which had a family history of DMD.Two patients presented with proximal weakness,one with myalgia and dilated cardiomyopathy,one with limb weakness and ventricular septal defect,and one with exercise intolerance.Serum creatine kinase concentrations were between 1 000-31 815 U/L.Muscle biopsies were performed in 4 patients.Dystrophin gene mutation analyses were carried out in 5 patients by multiplex ligation-dependent probe amplification.Karyotype study was done in one patient who had no dystrophin gene mutation.Results Muscle biopsy revealed markedly decreased dystrophin expression in one patient and a mosaic pattern with some fibers lacking or partially expressing dystrophin in 3 patients.Four patients were identified carrying exonic deletions of dystrophin gene and one had t(x;5) (p21 ;p14).Conclusions The clinical manifestations and myopathological changes are more compatible with Becker muscular dystrophy.Chromosome translocation can be detected in Chinese female manifesting carrier.

Objective To investigate the characteristics of muscle edema and fatty infiltration in thighs and relationship with clinical symptoms in Chinese patients with different phenotypes of dysferlinopathy.Methods A total of 32 patients were enrolled , including 13 limb-girdle muscular dystrophy 2B (LGMD2B), 13 Miyoshi myopathy (MM), 4 proximodistal myopathy and 2 hyper-creatine-kinase-emia.Clinical symptoms were evaluated using modified Gardner-Medwin and Walton ( GM-W) score.Muscle MRI was performed in thighs to observe fatty infiltration and edema.We then compared the age of onset , disease duration, GM-W score, muscle edema and muscle fatty infiltration between LGMD 2B and MM groups,and the relationship of muscle edema score and fatty infiltration score with disease duration and GM-W score in all patients.Results The median GM-W score was 4.00 (2.00,5.00) in all patients, 4.00 (3.00,4.50)in LGMD2B and 4.00(2.00,5.00)in MM, respectively.Muscle fatty infiltration appeared in 30 cases (93.75%), with the same pattern in LGMD2B and MM.The mean fatty infiltration score was 28.20 ±12.86 in all patients, 28.50 ±13.03 in LGMD2B and 29.00 ±12.63 in MM, respectively.Muscle edema appeared in 26 cases (81.25%) with same pattern in LGMB2B and MM.The mean edema score was 18.36 ±13.60 in all patients, 22.88 ±11.59 in LGMD2B and 16.77 ±13.80 in MM.The age of onset , disease duration, GM-W score, muscle fatty infiltration and edema score were not significantly different between LGMD2B and MM patients.Muscle fatty infiltration score significantly correlated with GM-W score (rs=0.737,P=0.000) and disease duration (rs=0.637,P=0.000).Conclusions Fatty infiltration and edema in thigh muscles are very common in patients with dysferlinopathy , with similar radiological changes in main subtypes.The muscle fatty infiltration can be used as a predictor of disease progression.

Objective: To explore the effects of human erythropoietin (hEPO) on healing related transforming growth factor β₁ (TGF-β₁)/Smad3 signal transduction pathway in acute wounds of rats. Methods: Seventy-two healthy Sprague Dawley rats were divided into normal saline control group, low dose group, middle dose group, and high dose group according to the random number table, with 18 rats in each group, after round acute wounds with diameter of 2.5 cm were inflicted on the back of rats. Rats in the 4 groups had debridement routinely. Wounds of rats in normal saline control group were covered by gauzes infiltrated with 1 mL normal saline, while wounds of rats in low dose group, middle dose group, and high dose group were respectively covered by gauze infiltrated with 1 mL hEPO in doses of 50, 100, and 150 U every day, and then the wounds were bandaged with 6 layers of dry gauze. Dressing change was performed once every day. On treatment day (TD) 3, 7, and 14, 6 rats from each group were taken for general observation and calculation of wound healing rate. Then the wound tissue samples were harvested after the rats were sacrificed for observation of expressions of CD31 and transforming growth factor β₁ (TGF-β₁) with immunohistochemical method. Protein expression of phosphorylated Smad3 of the wound tissue of 3 rats were detected by Western blotting. Data were processed with analysis of variance of factorial design, one-way analysis of variance, least-significant difference test, and Bonferroni correction. Results: (1) On TD 3, obvious exudation and scab were observed in the wounds of rats in the 4 groups. On TD 7, the wounds of rats in low dose group, middle dose group, and high dose group were reduced compared with those in normal saline control group. On TD 14, all wounds of rats in the 4 groups were healed. On TD 7, the wound healing rates of rats in middle dose group and high dose group were significantly higher than the rate in normal saline control group (P<0.01). At the other time points, the wound healing rates of rats in the 4 groups were close (P>0.05). (2) CD31 mainly expressed in blood vessels. Except for those in low dose group on TD 3 and 7 (P>0.05), the expressions of CD31 in wound tissue of rats in low dose group on TD 14 and in middle dose group and high dose group on TD 3, 7, and 14 were significantly higher than those in normal saline control group (P<0.01). Except for those on TD 3 (P>0.05), the expressions of CD31 in wound tissue of rats in middle dose group and high dose group on TD 7 and 14 were significantly higher than those in low dose group (P<0.01). Except for that on TD 3 (P>0.05), the expressions of CD31 in wound tissue of rats in high dose group on TD 7 and 14 were significantly higher than those in middle dose group (P<0.01). (3) Except for that in low dose group on TD 3 (1.9±0.7, P>0.05), the expressions of TGF-β₁ in wound tissue of rats in low dose group on TD 7 and 14 (3.3±1.0, 3.7±0.7), and in middle dose group and high dose group on TD 3, 7, and 14 (3.3±1.0, 3.6±1.0, 3.9±0.9, 3.4±0.7, 3.8±0.8, 4.2±0.4) were significantly higher than those in normal saline control group (1.7±0.5, 2.7±1.0, 3.0±0.9, P<0.01). Except for those on TD 7 (P>0.05), the expressions of TGF-β₁ in wound tissue of rats in middle dose group and high dose group on TD 3 and 14 were significantly higher than those in low dose group (P<0.01). Except for that on TD 14 (P<0.01), the expressions of TGF-β₁ in wound tissue of rats in high dose group on TD 3 and 7 were close to those in middle dose group (P>0.05). (4) Except for those in low dose group on TD 3 and 14 and in middle dose group and high dose group on TD 14 (P>0.05), the protein expressions of phosphorylated Smad3 in wound tissue of rats in the 3 groups at the other time points were significantly higher than those in normal saline control group (P<0.01). Except for those on TD 14 (P>0.05), the protein expressions of phosphorylated Smad3 in wound tissue of rats in middle dose group and high dose group on TD 3 and 7 were significantly higher than those in low dose group (P<0.01). Except for that on TD 14 (P>0.05), the protein expressions of phosphorylated Smad3 in wound tissue of rats in high dose group on TD 3 and 7 were significantly lower than those in middle dose group (P<0.01). Conclusions Exogenous hEPO can increase the expressions of CD31, TGF-β₁, and phosphorylated Smad3 in acute wounds of rats, promote angiogenesis of wounds, and activate TGF-β₁/Smad3 signal transduction pathway to promote wound healing.

Objective:To investigate the feasibility of magnetic anchor technique for endoscopic submucosal dissection (ESD) in the treatment of early esophageal cancer.Methods:A self-designed magnetic anchoring device (including an anchor magnet and a target magnet) was used to perform ESD on the hypothesized esophageal lesion mucosa of six isolated esophagus of Beagle dogs. The feasibility and convenience of the operation was evaluated.Results:ESD of 6 isolated esophagus of dogs was successfully completed. Through adjusting the position of anchor magnet, the pulling direction and force of the target magnet on the mucosa could be flexibly controlled, the mucosal peeling surface was fully exposed, and tissue tension was provided to ensure the smooth removal of the diseased mucosa. The entire operation was smooth, and the target magnet was conveniently retained. No target magnet slippage or mucosal laceration occurred during the operation.Conclusion:The magnetic anchor technique is safe and feasible for the ESD, effectively pulling the diseased mucosa in treatment of early esophageal cancer, which can greatly improve the endoscopic operation experience.

Objective:To observe the changes of somatosensory evoked potential (SEP) in the upper limbs of patients with acute middle cerebral artery (MCA) cerebral infarction, and to explore its relationship with neurological impairment.Methods:From January 2015 to December 2016, 62 patients with 38 cases of male and 24 women of cerebral infarction who were treated in the department of neurology, Kailuan General Hospital were selected for a retrospectively prospective cohort study, including 38 males and 24 females.aged (66.7 ± 10.9) years old and ranging from 33.0 to 85.0 years old.According to the side of cerebral infarction, 37 cases were divided into left MCA group and 25 cases into right MCA group.During the 48 hours of admission, the electromyography evoked potential meter was used to detect the upper limb SEP, and the peak latency, amplitude and electrical activity waveform of the cerebral cortex potentials N20, P25 and N35 were recorded.Results:The results of SEP in the contralateral limbs of the left and right MCA cerebral infarction group were as follows: 1 case (2.70%) and 5 cases (20.00%) of normal median nerve; 36 cases (97.30%) and 20 cases (80.00%) of abnormality.The ratio of median nerve abnormalities in the group was statistically significant (χ 2=12.577, P<0.001). The ulnar nerve was normal in 3 cases (8.11%), 4 cases (16.00%); 34 cases (91.89%) and 21 cases (84.00%) were abnormal.There was no statistically significant difference between the two groups (χ 2=2.320, P=0.128). The peak latency and/or amplitude of each peak decreased in 34 groups (60.71%) and 33 cases (60.00%) of the ulnar nerve; the waveform of electrical activity disappeared, 22 cases (39.29%) of median nerve and 22 cases of ulnar nerve (40.00%). The peak latency and/or amplitude decreased, the electrical activity waveform disappeared, and the median nerve and ulnar nerve were compared, and the difference was not statistically significant (χ 2=0.021, P=0.885). The National Institue of Health Storke Scale(NIHSS) scores of left and right MCA cerebral infarction group were 34 (91.89%) and 19 (76.00%) respectively.Among them, the disappearance of electrical activity waveform were 18 cases (52.94%) and 4 cases (21.05%)of median nerve; 18 cases (52.94%) and 4 cases (21.05%) of ulnar nerve.The SEP electrical activity waveform disappeared in patients with moderate or higher neurological impairment, and the median nerve and ulnar nerve were statistically significant (χ 2=20.613, 20.613, all P<0.001). Conclusion:The median nerve and ulnar nerve SEP of the contralateral upper limb, which is dominated by the acute middle cerebral artery cerebral infarction, were abnormally changed.The main manifestations were that the latency of each peak of N20, P25 and N35 was prolonged and/or the amplitude was significantly decreased, and the waveform of SEP electrical activity disappeared.In addition, the disappearance of SEP wave activities only occurred in moderate and above neurological damage

Objective To investigate the pollution of antibiotic resistance genes (ARGs) in the Lhasa River and provide a scientific basis for the safety of drinking water for the regional population and the prevention and control of water environment pollution. Methods A total of five water samples were collected in the Lhasa River in July 2022. Using quantitative real-time polymerase chain reaction (qPCR) assay, 19 types of ARGs, including eight ^“last-resort^” ARGs (LARGs) were detected and analyzed. Statistical analysis was conducted using the SPSS 22.0 software, and Student's t-test was used to compare data between two groups. Results All the 19 ARGs were detected with high frequencies, with the aminoglycoside resistance gene aadA having the highest concentration, followed by the sulfonamide resistance gene sul1 and the macrolide resistance gene ermB. Among the eight LARGs, the carbapenem resistance gene blaOXA-48 had the highest concentration. The absolute and relative concentrations of LARGs were lower than those of common ARGs. There was a statistically significant difference in the absolute concentrations between them, but no significant difference was observed in the relative concentrations. Conclusion Both ^“conventional^” ARGs and LAGRs have been detected in the Lhasa River. Although they are at a relatively low level compared to other domestic waters, in view of the serious adverse effects that ARGs, especially LARGs, may cause, the pollution of ARGs in the Lhasa River should be taken seriously.

Objective: To investigate the effect of hypertensive disorder complicating pregnancy (HDCP) on the mortality and early complications of premature infants. Methods: The general clinical data of preterm infants with gestational age 24-36^{+ 6} weeks were collected from the cooperative units in the task group from January 1, 2013 to December 31, 2014.According to the severity of HDCP, the infants were divided into 4 groups: HDCP group, preeclampsia group, eclampsia group and non HDCP group, the mortality and major complications of preterm infants were compared, and the influencing factors were analyzed. Results: The mortality rate of preterm in the HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=9.970, P=0.019). Eclampsia had a highest fatality rate (4.8%) in the early stage, compared with non HDCP group (2.2%), and the difference was statistically significant.Comparison of HDCP group (1.8%) and eclampsia group (3.2%) suggested that there was no statistically significant difference.The incidence of respiratory distress syndrome (RDS) in preterm in HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=13.241, P=0.004). Eclampsia group showed the highest incidence (35.4%), compared with non HDCP group (16.2%), the difference was statistically significant, but compared with HDCP group (19.9%), preeclampsia group (17.1%), there was no significant diffe-rence.The incidence of bronchopulmonary dysplasia (BPD) in preterm in HDCP group was significantly higher than that of non HDCP group (χ²=9.592, P=0.022), the highest incidence showed up in eclampsia group (9.7%), compared with non HDCP group (2.0%) and HDCP group (1.7%), the difference was statistically significant.But there was no statistically significant difference, compared with preeclampsia group.As the degree of HDCP aggravated, the incidence of BPD gradually rose.There was no significant impact on necrotizing enterocolitis (NEC), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH) and sepsis of HDCP (χ²=7.054, 7.214, 0.358, 3.852; P=0.070, 0.065, 0.949, 0.278). Considering the overall outcome of the child, that was, whether the child died or survived, he had at least one complication, and HDCP had an effect on it (χ²=15.697, P=0.001), so the incidence increased while the degree of HDCP rose gradually.After adjusting gestational age, birth weight, sex, way of delivery, placental abruption and front placenta, prenatal hormonal, gestational diabetes, neonatal asphyxia and other factors, the results displayed that HDCP was the factor leading to the death of premature baby (OR=2.159, 95%CI: 1.093-4.266), and comparison between preeclampsia and eclampsia showed no statistical difference (P=0.714, 0.389); HDCP had no significant influence on RDS, BDP, ICH, NEC, ROP and sepsis. Conclusions HDCP leads to increased risk of premature death, but also leads to the increased incidence of RDS and BPD, but it had no obvious effect on NEC, ROP, IVH, sepsis and other complications.