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The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simultaneously tested by NGS for a gene panel associated with hereditary neuromuscular disease and multiplex ligation-dependent probe amplification (MLPA) for the Dystrophin gene. The exon deletion/repetition mutations of the Dystrophin gene determined by both methods were compared and the point mutations of the Dystrophin gene were verified by Sanger sequencing. Dystrophin gene mutations were found in all the 22 probands, including 14 exon deletion/repetition mutations and 8 point mutations/minor variations. The results of MLPA detection were consistent with those of NGS. The results of Sanger sequencing showed that the point mutations and minor variations determined by NGS were correct. One missense mutation (c.6290G>T), 1 nonsense mutation (c.3487C>T) and 4 minor deletion-induced frameshift mutations (c.1208delG, c.7497_7506delGGTGGGTGAC, c.9421_9422delAA and c.8910_8913delTCTC) had not been reported in the Human Gene Mutation Database, and thus were considered as novel mutations of the Dystrophin gene. The results of this study showed that NGS can detect variations in the Dystrophin gene, including exon deletion/repetition, point mutation, minor deletion and intron mutation. Therefore, NGS is of certain clinical value in the molecular diagnosis of DMD and is worthy of recommendation.
Subject(s)
Humans , Dystrophin , Exons , High-Throughput Nucleotide Sequencing , Muscular Dystrophy, Duchenne , MutationABSTRACT
Objective To explore the efficacy and safety of sodium valproate in a higher dose in the evening for treating nocturnal and early-morning seizures.Methods A total of 69 newly diagnosed pediatric patients with nocturnal or early-morning seizures were enrolled.They were randomly distributedinto experimental group (35 cases) and control group (34 cases) and treated with sodium valproate tablets.The initial dose was little.It was gradually increased to the effective maintenance dose.With sodium valproate given twice a day,the post meridiem(PM) dose was twice the ante meridiem(AM) dose in the experimental group,while the PM/AM dose was equal in the control group.All patients were at least been followed up for 6 months.Results In the experimental group,28 cases were seizure free (80.0％),and the total effective rate was 85.7％.In the control group,20 cases were seizure free (58.8％),and the total effective rate was 64.7％.The difference in the total effective rate between the 2 groups was significant (P ＜ 0.05).No severe adverse effect was found among all patients.The incidence of daytime sleepiness (0/35 cases) in the experimental group was lower than that in the control group (2/34 cases).Conclusions A higher dose of sodium valproate in the evening for nocturnal and early-morning seizures led to better seizure control,better nocturnal sleep,less daytime somnolence,and the side effects are slight.
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Objective To discuss the diagnosis significance of soluble triggering receptor expressed on myeloid cells-1 (STREM-1) and lactate in children with purulent meningitis,and to investigate the changes of STREM-1,lactate in cerebrospinal fluid(CSF) of purulent meningitis before and after treatment.Methods Dry chemical method and enzyme linked immunosorbent assay(ELISA) were used to measure STREM-1 and lactate levels in CSF of purulent meningitis group (24 cases),viral meningitis group (27 cases),CSF normal group (25 cases) and purulent meningitis after treatment group(22 cases).Results 1.STREM-1 and lactate levels in CSF were higher in patients with purulent meningitis than in those with viral meningitis and CSF normal group(all P ＜ 0.05).2.STREM-1 and lactate levels in CSF were higher in patients with purulent meningitis before treatment than those after treatment(all P ＜ 0.05).3.The area under the curve(AUC) of STREM-1 in CSF was 0.891,and at a cutoff level of 27.86 ng/L STREM-1 yielded a sensitivity of 80.8％ and specificity of 75.0％ ;the AUC of CSF lactate was 0.940,and at a cutoff level of 1.75 mmol/ L lactate yielded a sensitivity of 90.4％ and specificity of 83.3％.Conclusions 1.STREM-1 and lactate were associated with bacterial infection,they have considerable diagnostic values in purulent meningitis.2.STREM-1 and lactate maybe worthless in differential diagnosis of purulent meningitis when treated by effective antibiotics.3.The decline of STREM-1 and lactate in CSF prompts the control of infection and good prognosis.
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Objective To investigate the influence of Ethyl pyruvate(EP) on the level of high mobility group box 1 (HMGB1) in brain injury of infant rats induced by lipopolysaccharide (LPS) and its significance.Methods Two hundred and forty normal healthy 1-month-old Spragne-Dawley (SD) rats were randomly divided into 3 groups:9 g/L sodium chloride (NS) group(n=80),LPS group (n=80),and EP group (n=80).LPS (1 mg/kg) was injected via internal carotid.In EP group,after injecting LPS,each rat was immediately administrated 4 mL EP(40 mg/kg) intraperitoneally; in control group,4 mL Ringer's solution was given instead of EP.Rats were decapitated at 6,12,24,48 and 72 h following drug injection.The evan's blue (EB) content of brain tissues was meteraged by the formamide methods.Immunohistochemistry technology was used to detect the expression of HMGB1,neuron specific enolase(NSE) and glial fibrillary acidic protein(GFAP) protein,and reverse transcribe polymerase chain reaction technology was applied to study the expression level of HMGB1 mRNA in brain tissue.Meanwhile,the pathological changes of brain tissues were observed under the light microscope.Results Six hours after LPS was given,brain EB content,the levels of NSE,GFAP protein started to rise,reaching the peak at 24 h,and still higher than those in control group at 48 h and 72 h.The expression pattern of HMGB1 protein and mRNA in brain tissue was consistent with the severity of brain injury,increased at 6 h after LPS was given and reached the peak at 24 h,still higher than those in control group at 48 h and 72 h.Positive correlation was found among HMGB1 protein,HMGB1 mRNA and EB content,NSE protein,GFAP protein,respectively.In EP group,the levels of HMGB1 protein and mRNA,the levels of brain EB content,NSE,GFAP protein were found,positive correlation was still gotten between HMGB1 protein,EB content and NSE,GFAP protein,HMGB1 mRNA in LPS group and EP group.Conclusion EP has neuroprotective effect on brain injury induced by LPS,which may be relevant to decreasing of the expression of HMGB1 and suppressing inflammation action.
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Objective To explore the inhibitory effect of melatonin(MT) on expression of glial fibrillary acidic protein in infant rats with brain injury induced by lipopolysaccharide(LPS).Methods One hundred and sixty Spragne-Dawley rats(1 month) were randomly divided into 4 groups:9 g/L saline group(NS group),LPS group,MT protective A group(MT plus LPS,MT was given 15 minutes earlier),and MT protective B group(MT plus LPS,MT was given immediately).Forty rats in each group,then every group was subdivided into 2 subgroups according to observe time point at 24 h and 48 h with 20 rats,respectively.Half of them in all subgroups were not injected Evans blue(EB).Rats were sacrificed at 2 time points to take brain tissue samples,respectively.EB content of brain tissue was meteraged by the formamide methods.Immunohistochemistry technology and computer assisted image analysis system methods were applied to observe the expression of the positive apoptosis cell of brain tissue.Results Both EB content and the expression of GFAP showed significant difference between LPS group and NS group(Pa0.05).Conclusions LPS can induce the expression of GFAP in infectious brain injury of rats induced by LPS,and MT can inhibit the expression of GFAP;MT may play a role in dealing with infectious brain injury.
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Objective To evaluate the clinical significance of video-electroencephalogram(VEEG) in the diagnosis of paroxysmal events in children.Methods The VEEG and routine electroencephalogram(EEG) were used to inspect 262 cases of seizures respectively collected of outpatient clinic and admission department from Apr.2006 to Dec.2007,and VEEG monitoring results were analyzed and compared with primary diagnoses retrospectively.According to the characteristics of EEG and clinical observation to decide whether it be epilepsy or not and compare the difference between the results of EEG and VEEG to evaluate the application value of the 2 examination methods in children with NES.SPSS 13.0 software was used to analyze the data.Results Of all 262 cases,113 cases of clinical outbreak were recorded,meanwhile the diagnose of 4 patients of epileptic seizures(ES) group were changed to non-epileptic seizures(NES) and 3 patients of NES were rediagnosed to ES,69 cases couldn′t be confirmed according to VEEG or EEG and there was no outbreak recorded in the other 149 cases.In the period onset,79 children′s characteristics of EEG were captured which included 76 children in ES group,and 3 children in NES group.Thirty-six children′s characteristics of EEG were not captured which included 4 children in ES group and 30 children in NES group.The differences of the ratio of total detect and abnormity between EEG and VEEG were significant,improving the diagniosis rate and the control rate of symptom.VEEG had a clinical significance in differential diagnosis of ES and NES.Conclusions Compared with EEG,VEEG will be more helpful in diagnosing and differentiating seizures diseases,improving the diagnosis rate and the control rate of symptom.VEEG has a clinical in diffe-rential diagnosis for ES and NES.
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Objective To investigate the diagnosis and treatment of mixed connective tissue disease(MCTD)complicating pulmonary hypertension(PAH) in childhood in order to improve the recognition of this disease.Method According to the symptoms,signs,past history,labratory examinations,the child′s disease was diagnosed and treated,and the relative literature was reviewed.Results The main symptom of the child was interruptable apsychia.Ultrasound showed severe PAH,positive of anti-RNP antibody.After given immunosuppressant and decreased PAH,the patient′s condition was more improved.Conclusions MCTD complicating PAH in childhood onstes delitescently,and it′s difficult to diagnose.Recognition should be elevated to diagnose and treat it earlier.The prognosis can be improved.