ABSTRACT
OBJECTIVE@#To explore the genetic basis for a female patient featuring unstable head upright and hypotonia of limbs.@*METHODS@#The child was examined clinically. Peripheral blood samples of the child, her parents and siblings were collected. Genomic DNA was extracted and subjected to next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#DNA sequencing found that the patient has carried a de novo heterozygous c.354C>A (p.N118K) variant of the CHRND gene, which was not found in her parents and sibling. Bioinformatics analysis predicted that the variant was likely to be pathogenic. Literature review suggested that the phenotype of the patient was very similar to previously reported ones.@*CONCLUSION@#The child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene. NGS has provided a powerful tool for the diagnosis of such disorders.
Subject(s)
Child , Female , Humans , Genetic Testing , Heterozygote , High-Throughput Nucleotide Sequencing , Mutation , Myasthenic Syndromes, Congenital , Genetics , Pathology , Receptors, Cholinergic , GeneticsABSTRACT
Objective To compare the clinical efficacy of minimally invasive percutaneous pedicle screw fixation and posterior paraspinal muscle space approach pedicle screw fixation for the treatment of thoracolumbar fractures.Methods Retrospectively analyzed the clinical data of 29 patients treated via minimally invasive percutaneous pedicle screw fixation(minimally invasive group) and 28 patients treated via posterior paraspinal muscle space approach pedicle screw fixation(paraspinal muscle approach group) from March 2013 to October 2015.The anterior vertebral height ratio,sagittal Cobb angle,surgical incision,operation time,number of fluoroscopy,intraoperative blood loss and ODI and VAS scores were compared between the two groups.Results All patients were followed up for an average period of 12.6 months (ranged from 6 to 18 months).At the end of 3 days,3 months and 12 months after operation,vertebral sagittal index and Cobb angle of the two groups were significantly recovered compared with the preoperative data(P0.05).The surgical trauma and intraoperative blood loss of patients in the minimally invasive group were significantly lower than those of the paraspinal muscle approach group,while the operation time and fluoroscopy times were significantly higher than those of the paraspinal muscle approach group,and the differences were statistically significant(P<0.05).Conclusion Minimally invasive percutaneous and paraspinal muscle approach pedicle screw fixation are both effective,safe and reliable.Paraspinal muscle approach pedicle screw fixation has shorter operation time and easier operation,while minimally invasive percutaneous pedicle screw fixation has less trauma,less bleeding and faster postoperative recovery.
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Objective To study the utility of brainstem auditory evoked potentials in the evaluation of children with cerebral palsy. Methods In a group of 86 cases of cerebral palsy aged 6～30 months and a control group of 60 normal children, the brainstem auditory evoked potentials were recorded and subsequently analyzed and evaluated correlatively with asphyxia during birth and their functional impairments (including the visual, speech impairment, epilepsy and eating dysfunction). Results The latencies of waves Ⅲ?Ⅴ,the interpeak latencies(IPLs) of waves Ⅲ-Ⅴof BAEP in children with cerebral palsy were often abnormal( P