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Objective:To investigate the phenotype, genotype and clinical course of centronuclear myopathy(CNM) in children.Methods:Clinical data of patients with CNM in the Department of Pediatrics, Peking University First Hospital from October 2008 to December 2018 were collected.The clinical, pathological and genetic data of 9 children with CNM were retrospectively analyzed.The patients were followed up from 8 months to 8.6 years [(4.4±3.1) years].Results:(1)Clinical phenotype: there were 6 males and 3 females with onset age ranging from 1 d to 10 years.Generalized muscle weakness or motor retardation was the main complaint in 8 cases, while elevated muscle enzymes presented in 1 case.Varying degrees of skeletal muscle weakness were noted on examination in all patients, with facial muscle involvement in 4 cases.Six patients were followed up.No deterioration in motor function was noted, while 2 patients had improvement.There was no significant cardiac involvement in all 6 patients.Scoliosis occurred in 4 patients.Restrictive ventilator disorder developed in 2 out of the 5 patients who underwent pulmonary function tests.(2)Genotype: 8 out of 9 patients underwent gene test, confirmed gene diagnosis in 4 patients including: DNM2 gene (c.1856C>T, c.1893+ 1G>A was novel) de novo heterozygous mutation in 2 cases, RYR1 gene (c.2044C>G, c.6823G>A, both were novel) compound heterozygous mutation in 1 case, and TTN gene (c.107377+ 1G>A, c.2106_2107 insAAGCTGTA was novel) compound heterozygous mutation in 1 case. Conclusions:The course of centronuclear myopathy is relatively static, with more frequent involvement of facial muscles than myocardium.This study enriched the gene mutation spectrum of centronuclear myopathy (4 novel mutations).
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OBJECTIVE: To evaluate the interrater and intrarater reliability of North Star Ambulatory Assessment(NSAA)used in the children with Duchenne muscular dystrophy(DMD)and explore the feasibility of evaluating motor function by videos. METHODS: The assessment data of 40 cases of DMD admitted from July 2017 to November 2017 to Peking University First Hospital were analyzed. Forty DMD boys aged 4.3 to 13.4 years were admitted. They were divided into three groups based on their age. Ten boys were younger than 5 years. Eighteen boys were aged 5 to 9 years. Twelve boys were older than 9 years.Three evaluators,A,B,and C,joined the study. In the interrater reliability study,evaluator A performed the evaluation with NSAA on the boys and video-taped their performance,then evaluators B and C scored the performance in the videos independently to examine interrater reliability. After one month,three evaluators rescored the performance according to the videos again to examine the intrarater reliability. The intra-group reliability was calculated according to the NSAA scores evaluated by the evaluators B and C twice for the same child. The consistency of the video score with the on-site score was calculated according to the NSAA score of the two assessments of the same child by evaluator A. Intraclass correlation coefficient(ICC)was calculated to examine the reliability. RESULTS: In the interrater reliability study,total ICC was 0.990,subgroups ICC was from 0.971 to 0.992. In the intrarater reliability study,total ICC was from 0.987 to 0.988. The video score and the on-site score wereconsistent withICCbeing 0.980. CONCLUSION: NSAA is a reliable and practical method to evaluate the motor development of children with DMD. The consistency between on-site scoring and video scores is high.
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Precision oncology is applying established clinic-pathological indexes with molecular profiling to create diagnostic,prognostic,and therapeutic strategies precisely tailor to each patient's requirements.It includes precision prevention (cancer risk detection and prophylactic intervention),precision diagnosis (early detection and diagnosis,molecular classification),and precision treatment (molecular targeted therapies,predicting and monitoring treatment response and precision surgery based on the combination of visual,cytology,pathologic review,as well as molecular profiling assessments).Understanding of cancer and clinical decision making from the molecular level is necessary in era of precision oncology.Many challenges,including the heterogeneity and dynamic evolution of cancer cells,few understanding about cancer biology,pairing the massive genomic data with inaccurate clinical information,limited sensitive drugs and unexplained resistance,insufficient cancer biomarkers for precision diagnosis and treatment,have to be overcome before it can be clinical routines.
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<p><b>OBJECTIVE</b>In order to investigate the positive rate of streptococcus suis type 2 and the genes of their suilysin (sly), extracellular protein (epf) and muramidasa-released protein ( mrp) and to understand the antibiotic susceptibility of S. suis type 2.</p><p><b>METHODS</b>S. suis type 2, isolated from slaughtered healthy pig's tonsil in 10 county area of Guangxi, were identified by Multiplex PCR, and the genes of their sly, epf, mrp and the antimicrobial sensitivity analysis were performed.</p><p><b>RESULTS</b>1105 strains of Streptococcus including 667 strains of S. suis and 33 strains of S. suis type 2 were detected from 1179 samples. In these S. suis type 2 strains, there were 22 strains of sly + mrp + epf+ type,1 strain of sly + mrp + epf - type, 2 strains of sly - mrp + epf + type, 7 strains of sly - mrp + epf - type and 1 strain of sly - mrp - epf- type. When these strains were subjected to be tested with penicillin, eritrocina, vacocin, gentamycin, specti-nomysin, enraxacin, ciprofloxaxin, cephalothin VI, sulfadiazine sodium, cyantin, mycifradin, amikacin and achromcin, some were found to be resistant to but most strains were susceptible to cephalothin VI, penicillin and enraxacin. There were 31, 29 and 27 strains over medium sensitivity, respectively, but 28 and 27 resistant strains to amikacin and achromcin were found.</p><p><b>CONCLUSION</b>The positive rate of S. suis type 2 in clinical healthy pigs was low (2.8%) and did not show obvious difference between the counties with or without a history of S. suis infection. All the isolated strains were susceptible to cephalothin VI, but most strains were virulent.</p>