Clinical features analysis in 5 children of early onset epileptic encephalopathy with dyskinesia / 中国实用儿科杂志

OBJECTIVE: To investigate the clinical phenotype of children with early-onset epileptic encephalopathy and dyskinesia. METHODS: The patients with early onset epileptic encephalopathy and dyskinesia were enrolled from September 2013 to September 2017. The clinical data was retrospectively analyzed. RESULTS: A total of 5 children with early onset epileptic encephalopathy with dyskinesia were collected. Including 1 male and 4 females. 1 case of dyskinesia showed dancing-like movements,2 cases of dyslexia,ataxia mixed,1 case of limb tremor accompanied by wrist alternating twisting action,1 case of muscle tension associated with tremor,speech is unclear. 4 cases were positive for 1 genotype,1 case was mutation of SCN1A gene,2 cases were PRRT2 gene mutation,1 case was SLC2A1 gene mutation. After treatment,2 cases of seizure control effect is good,3 cases of poor results. CONCLUSION: Early onset epileptic encephalopathy with dyskinesia is easy misdiagnosed as epileptic seizures. Genetic associated with the pathogenic genes are mostly reported in the previous gene,PRRT2 gene,SLC2A1 gene mutation. Early onset of epilepsy with dyskinesia caused by SCN1A gene mutation has rarely been reported in the literature. Some children enjoy good results.

An atypical case of mitochondrial acetoacetyl-CoA thiolase deficiency

Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic acidosis, in which large amounts of 2-methyl-3-hydroxybutyry1 carnitine, 2-methyl-3-hydroxybutyrate and tiglylglycine are often detected in the blood and urine. We herein describe an atypical case of T2 deficiency with a high level of 3-hydroxybutyrate and a low level of 2-methyl-3-hydroxybutyrate in the urine. Such a case was diagnosed by urinary organic analysis in combination with gene mutation evaluation. Organic acids in the urine were measured using a gas chromatography mass spectrometer and all exons were sequenced via deep sequencing. Molecular biology analysis confirmed the presence of a homozygous mutation in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. The patient received a special diet of deeply hydrolyzed protein milk powder and raw corn starch. She was followed about 6 months. There were no ketoacidotic episodes and hypoglycemia even when she had fever. In conclusion, patients with atypical features of T2 deficiency should also be investigated early. Gas chromatography mass spectrometry and next-generation full exome sequencing may be helpful in diagnosis.

Preliminary evaluation on drug release and local security of Ranuncoli Ternati Radix extracts-ion sensitive in situ gels / 中草药

Objective: To evaluate the pulmonary retention, safety, and local drug concentration of Ranuncoli Ternati Radix extracts- ion sensitive in situ gels (RTRE-ISG). Methods: Sodium alginate as excipient, RTRE (70% ethanol) as solvent, it was swollen at room temperature using magnetic stirring to prepare RTRE-ISG which was administered via endotracheal tube to rats, The levels of inflammatory cytokines and fibrosis factors were detected in BALF to screen the relative safe priscription. Then using CY5.5 as fluorescent dye, the pulmonary retention of RTRE-ISG was evaluated with the aid of the small animal in vivo imaging system. In the end, the lung lavage was performed by using the improved alveolar lavage technique and the local drug concentration was determined. Results: The safety of RTRE-ISG prepared by 1% sodium alginate was better, the retention time in lung was 120-144 h revealed by fluorescence in vivo imaging system. The results showed that the release of drug reached to a peak of 5.24 μg/mL in 5 h after administration and 0.08 μg/mL in 144 h after administration. Conclusion: RTRE-ISG was good safety with the retention time in lung more than 120 h, which is a nevol sustained preparation of Chinese materia medica for the treatment of pulmonary tuberculosis.

Diagnosis of X-Linked creatine transporter deficiency in a patient from Northeast China

Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year old boy with an intellectual disability, speech and language delay and motor disturbance. Methods: A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS) were carried out, the creatine and creatinine concentrations in the urine were checked and all exons were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the heterozygosity of the exon 10: c.1395-c.1401 deletion. Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration sequencing and a brain MRS, should be considered, in order to determine any neurometabolic diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis, hence causing central nervous system symptoms.

The dissemination of CMV in urine of different group from Guangxi and the relationship between CMV infection and renal disease / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To detect Human Cytomegalovirus (HCMV) DNA in urine samples from the following groups: pregnant women, sick newborns, hospitalized nephropathy patients, renal transplant recipients and normal population. Preliminarily study the relationship of HCMV infection and renal disease.</p><p><b>METHODS</b>To detect HCMV DNA in morning urine samples by Real-time fluorescence quantitative PCR (FQ-PCR).</p><p><b>RESULTS</b>The positive rates of HCMV DNA in the urine of pregnant women,sick newborns, hospitalized nephropathy patients, renal transplant recipients and normal population are 8.18%, 3.45%, 18.54%, 25.42%, 0.56%.</p><p><b>CONCLUSION</b>The infection rates of HCMV in the urine of pregnant women and sick newborns are very high in Guangxi, it should take serious measures to prevent and control the situation. HCMV probably participate in the injury of kidney, and worsen the disease. It should be one of the causes of renal disease.</p>