OBJECTIVE: To establish a newborn screening system for Duchenne muscular dystrophy (DMD) through assessment of MM isoenzyme of creatine kinase (CK-MM) activity. METHODS: The CK-MM level was detected using dry blood spot filter paper from 10 252 male newborns. The results were grouped based on their gestational age, sampling time and intervals between the experiments. The threshold value for CK-MM necessitating genetic testing was determined. Next-generation sequencing (NGS) was carried out for those with a CK-MM value over the threshold, and the result was verified by multiplex ligation-dependent probe amplification (MLPA). RESULTS: Based on the result of non-parametric rank sum test, the median CK-MM concentration has increased with the gestational age, and was inversely correlated with the age of the newborns among unaffected specimens. CK-MM on dry blood spot filter paper can be stable for 14 days at 2-8℃. Statistical analysis of CK-MM value of the 10 252 neonates suggested that the threshold may be set as 700 ng/mL. Exonic deletions were found in 2 confirmed cases, whose CK-MM level was greater than 2000 ng/mL. CONCLUSION Detection of CK-MM in dry blood spot filter paper has provided an effective method for newborn screening of DMD. This simple and inexpensive method can be used for large-scale screening, which is of great value to the early intervention and treatment of the disease.
Dystrophin/genetics* ; Exons ; Humans ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Neonatal Screening

Objective: To explore the effect of reducing complication in branched spongiosum repair for hypospadias Duckett surgery. Methods: Retrospective analysis was performed for the clinical data of 140 surgical infants with hypospadias Duckett surgery from January 2016 to April 2018. According to different covering materials on newly formed urethra, the experimental group (68 cases) cut dysplasia, branched spongiosum and lateral Buck′s fascia from tunica albuginea to coronary groove and then sutured over newly formed urethra, and the control group (72 cases) used Dartos fascia or subcutaneous fascia. The operative age, penile curvature, length of urethral defect, operation time, added value of coronary groove before and after operation, maximum urinary flow rate and complication rate of postoperative follow-up were compared between the two groups, and the therapeutic effect was analyzed. Results: There was no statistically significant difference between two groups in operating time[(135±49)min vs.(135±45)min, P=0.580] and the value added of coronary sulcus[(0.1±0.2)cm vs.(0.1±0.1)cm, P=0.167]. In experimental group, there were 8 cases of urethra percutaneous fistula (11.8%) (coronary groove fistula in 3 cases, 4.4%)and 6 cases of urethral stenosis (8.8%) without urethral dehiscence. In control group, there were 18 cases of urethra percutaneous fistula (25.0%)(coronary groove fistula in 11 cases, 15.3%), 10 cases of urethral stenosis (13.9%), and 2 cases of urethral dehiscence (2.8%). The incidence of postoperative urinary fistula and total complications in experimental group was lower than that in the control group, and the difference was statistically significant (P<0.05), while the incidence of urethral stenosis was not statistically different between two groups (P>0.05). The maximum urine flow rate of experimental group at 6 months after surgery was significantly higher than control group[(9.5±3.8)ml/s vs.(6.8±2.8)ml/s], and the difference was statistically significant (P<0.001). Conclusions Urethral cavernosum reconstruction can significantly reduce the incidence of postoperative coronary groove fistula of hypospadias Duckett surgery and improve the postoperative urine flow rate.

Objective To study the effects of intermittent hypoxia training ( IHT) plus rehabilitation exercise on the cognitive function and motor dysfunction in the patients with cerebral infarction. Methods Fifty-four patients with cerebral infarction were enrolled for the study, and were randomly divided into the IHT +rehabilitation group ( or group A) and the conventional rehabilitation group ( or group B) . The patients in group A had IHT, in addition to the conventional rehabilitation treatment as received by group B. All the patients had 5 treatment sessions a week for a succession of 4 weeks. The cognitive function and motor dysfunction both before and after intervention in the patients of the 2 groups were evaluated with Fugl-Meyer motor assessment ( FMA) and MMSE. Results Following intervention, the FMA cores in the patients of the 2 groups all improved as compared with those before intervention(P<0. 05). The MMSE scores of group A increased from (22. 2 ± 1. 16) before intervention to (26. 4 ± 1. 01) after intervention. Statistical significance could be seen when comparisons were made between the 2 groups(P <0. 05). As for the MMSE scores of group B after intervention, there was no statistical significance, when they were compared with those before intervention( P>0.05). The MMSE scores of group A were better than those of group B after intervention(P <0. 05). Conclusion IHT plus rehabilitation exercise could effectively improve the cognitive function and motor function of the patients with cerebral infarction.

Objective To study the effects of intermittent hypoxia training ( IHT) plus rehabilitation exercise on the cognitive function and motor dysfunction in the patients with cerebral infarction. Methods Fifty-four patients with cerebral infarction were enrolled for the study, and were randomly divided into the IHT +rehabilitation group ( or group A) and the conventional rehabilitation group ( or group B) . The patients in group A had IHT, in addition to the conventional rehabilitation treatment as received by group B. All the patients had 5 treatment sessions a week for a succession of 4 weeks. The cognitive function and motor dysfunction both before and after intervention in the patients of the 2 groups were evaluated with Fugl-Meyer motor assessment ( FMA) and MMSE. Results Following intervention, the FMA cores in the patients of the 2 groups all improved as compared with those before intervention(P<0. 05). The MMSE scores of group A increased from (22. 2 ± 1. 16) before intervention to (26. 4 ± 1. 01) after intervention. Statistical significance could be seen when comparisons were made between the 2 groups(P <0. 05). As for the MMSE scores of group B after intervention, there was no statistical significance, when they were compared with those before intervention( P>0.05). The MMSE scores of group A were better than those of group B after intervention(P <0. 05). Conclusion IHT plus rehabilitation exercise could effectively improve the cognitive function and motor function of the patients with cerebral infarction.

Objective To investigate the effects of pregabalin coupled with acupuncture and rehabilitation training on lumbar disc herniation (LDH).Methods Following diagnosis and confirmation by CT or MRI,60 patients with LDH were randomly divided into 3 groups:group A,the pregabalin plus acupuncture and rehabilitation training group;group B,the meloxicam plus acupuncture and rehabilitation training group;and group C,the routine rehabilitation training group or the control group.Scores of VAS and ODI were evaluated,and lumbocrural pain and numbness in the patients of the 3 groups were closely observed before and after treatment.Results Before intervention,there were no statistical differences in ODI,pain and numbness indexes,when comparisons were made between the patients of the 3 groups (P ＜ 0.05).Medical follow-ups 14 days and 1 month after intervention indicated that symptoms of the patients were all improved,and ODI as well as pain and numbness indexes of Group A were more significantly improved,when compared with those of the other 2 groups.Statistical significance could be seen,when comparisons were made between the 3 groups (P ＜ 0.05).Conclusion Pregabalin coupled with acupuncture and rehabilitation training could produce better therapeutic effects on lumbar disc herniation.For this reason,it was worth further clinical extension.

Objective To study the clinical effect of madopar associated with mental imagery on the recovery of the pa-tients with lower limb dysfunction following cerebral infarction.Methods According to diagnostic standards of cerebral infarction and verified with CT and MRI, 80 patients with lower limb dysfunction and primary seizure were randomly divided into 4 groups:the madopar +mental imagery +routine rehabilitation group or Group A, the madopar +routine rehabilitation group or Group B, the mental imagery +routine rehabilitation group or Group C, and routine rehabilitation group or Group D.Both before and af-ter treatment, Fugl-Meyer scores, FAC scores and Berg scores were evaluated respectively.Results Before intervention, no sta-tistical differences could be seen in the basic clinical data, when comparisons were made between the 4 groups(P>0.05).Statis-tical differences could neither be seen in the Fugl-Meyer, Berg and FAC scores in the 4 groups before intervention(P>0.05). However, improvement was shown after intervention(P>0.05).As compared with those of the other 3 groups, Fugl-Meyer, Berg and FAC scores of group A after intervention were significantly improved, and statistical significance could be noted, when comparison were made between them(P<0.05, P=0.0137).It was chiefly manifested that Fugl-Meyer, Berg and FAC scores were significantly improved.Conclusion Madopar associated with mental imagery could obviously promote the functional disorder of the lower limbs following cerebral infarction.