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Objective:To summarize the clinical phenotype and genetic characteristics of one child patient with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mHS) caused by HMGCS2 gene mutation. Methods:One child patient with mHS who received treatment in Chongqing University Three Gorges Hospital on April 10, 2020 was included in this patient. The child was hospitalized due to cough, shortness of breath and deep coma. After admission, gas chromatography-mass spectrometry of the blood and urine samples and high-throughput whole genome sequencing were performed. The pedigree of the child with gene mutation was analyzed. The child was diagnosed with mHS. Related publications published by June, 2020 were searched in Wanfang database, Chinese Journal Full Text Database, PubMed and HGMD databases using search terms "mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "HMGCS2" "mHS deficiency". Forty-three papers addressing mHS deficiency were retrieved. The clinical phenotype and genotypes of the child with HMGCS2 mutation were summarized. Results:As of June 2020, there were 44 children with mHS deficiency, including the child reported in this study. These children consisted of 15 males, 11 females and 18 unknown genders. Among these children, 29 were aged 0-24 months, 4 were aged > 24 months, 6 had no symptoms, and 5 were of unknown age of disease onset. The first symptoms of most children were fever, cough, acute gastroenteritis, and coma. Twenty-seven children had hypoglycemia, 21 children had metabolic acidosis, 15 children developed hepatomegaly, 16 children had increased FFA/D-3-HB, and 10 children were tested 4-hydroxy-6-methyl-2-pyrone positive. The child included in this study had hepatomegaly, elevated alanine aminotransferase and metabolic acidosis. Gas chromatography-mass spectrometry results showed that a variety of metabolites were increased. Tandem mass spectrometry results showed that C40 level was elevated, and long-chain carnitine contents were increased. High-throughput whole genome sequencing results revealed that there were two heterozygous mutations in HMGCS2 gene, (NM_0055) c.559+1G > A; c. 758 T > C heterozygous mutation. Sanger sequencing and parental origin analysis showed that the mutations in this child were from parents. The two gene mutations in this child were new mutations, which have not been reported in China and countries outside China. According to the criteria and guidelines for interpretation of ACMG sequence variation, the variation was determined to be pathogenic. Conclusion:When a child has hypoketotic hypoglycemia and/or metabolic acidosis, increased FFA/D-3-HB and acetylcarnitine levels, mHS deficiency should be considered. HMGCS2 gene examination can help diagnose mHS deficiency.
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Objective To explore the intervention effect of the combination of medicine and education on teachers and parents of children with attention deficit hyperactivity disorder (ADHD).Methods The students in Grade 1 to 3 of 6 public primary school (6～11 years old) were enrolled by stratified sampling method and randomly divided into the experimental group and the control group.All the students were screened for ADHD,and the children diagnosed with ADHD and their parents and teachers were enrolled into study as the research object.The children in the control group were given oral short-effect methylphenidate hydrochloride tablets and their parents underwent routine health education,while the parents and teachers in the experimental group were given both the routine health education and systematic training.Before and after training,the awareness rates of ADHD knowledge among parents and teachers were observed,and the clinical effects of two groups were compared.Results The control group included 71 children with ADHD,71 pairs of parents and 31 teachers,while the experimental group included 68 children with ADHD,68 pairs of parents and 34 teachers.The difference of general data between the two groups has no statistical significance (P＞0.05).Before intervention,there was no significant difference in awareness rate of ADHD knowledge among teachers and parents in the two groups (P＞0.05).After the intervention,the awareness rate of ADHD knowledge in teachers of the control group did not change obviously,while which in parents of the control group and the parents and teachers in the experimental group were significantly improved,and the improvement effect in the experimental group was significantly better than that of the control group (P＜0.05).The scores of the SNAP-Ⅳ scale in both groups were significantly decreased,and the scores of the experimental group were significantly lower than those in the control group.The significant rate and total effective rates of the experimental group were significantly higher than those in the control group (P＜0.05).Conclusion The intervention effect of combination of medicine and education on teachers and parents of children with ADHD is definite,which is worthy of further research.
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Objective To analyze Vitamin D nutritional status of children and their height growth relationship in Wanzhou dis-trict of Chongqing .Methods Electrochemiluminescence immunoassay method was used to detect serum 25 hydroxyvitamin D [25 (OH) D]concentrations in 2 727 Children from Wanzhou district of Chongqing ,analyzing the correlation of Vitamin D and children age ,gender ,height ,parental height and other factors .Results There was significant difference in serum level of 25(OH) D among different age groups(P<0 .01) ,there was significant difference between boys and girls among the same age groups of 5 months ,6 months ,4 years old ,5 years old .Children′s height consistented with the national average 4 -6 years ago in Wanzhou District ,but Since then ,gradually felled behind .After adjustment for age ,sex ,parental height ,measured seasonal and other factors ,serum 25 (OH) D concentration was positively correlated with height (r=0 .462 5 ,P<0 .01) .Conclusion 25(OH)D levels were closely re-lated with the development of children′s height .Thus ,children generally poor 25(OH)D nutritional status in Wanzhou district should arouse the attention of parents and clinicians .
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@#Objective To observe the effect of meridian balancing on speech disorder in children with cerebral palsy. Methods 130 childrenaged 1.5~7 years old were divided into the control group (n=62) and treatment group (n=68). The control group received routine rehabilitationwhile the treatment group received meridian balancing in addition. Results The rate of improvement was 89.7% in treatmentgroup and 79% in control group (P<0.05). The rate was more for those with language retardation than with anarthria in the treatment group(P<0.01). Conclusion The meridian balancing is effective on speech disorder in children with cerebral palsy, especially for those with languageretardation.