Methylmalonic acidemia (MMA) is a rare disease which can be prevented and treated.It is the most common organic aciduria in China.MMA has complex genotypes, and its onset varies from the fetal stage to adulthood, which with a high mortality and disability rate.If the treatment is delayed, most patients with MMA would suffer from neuropsychiatric disorders and multiple-organ damage, resulting in epilepsies, psychomotor retardation, anemia, hydrocephalus, cardiomyopathy, pulmonary hypertension, renal insufficiency and visual impairment, and so on.The significant phenotypic and outcomes differences of MMA patients depend on the disease types and the treatment.Newborn screening, prenatal diagnosis and early standardized treatment are the keys to improve the prognosis of the patients.To reduce the mortality and sequelae caused by MMA, multi-disciplinary interventions by neonatologists, critical care experts, geneticists, metabolic specialists, neurologists, cardiologists, nephrologists, pediatric surgeons, obstetricians, medical laboratory physicians, pharmacists, nutritionist and rehabilitation therapists are important.

Objective The neuronal ceroid lipofuscinosis (CLN are a group of severe lysosomal storage diseases.The patients present with clinically and genetically heterogeneous neurodegenerative disorders.This study aims to investigate the clinical characteristics and the gene mutations of a rare Chinese family with 3 siblings affected by CLN7.Methods The proband,a 5-year-old girl,visited us because of intermittently seizures and mental retardation for 2 years and a half in December,2015.Clinical investigation,brain magnetic resonance imaging(MRI),biochemical and the gene analysis were performed for the etiological study.Results The proband had seizures at the age of 2 and a half years,with the progressive motor deterioration,speech disturbance,mental regression and vision loss.Her brain MRI showed diffusive cerebral atrophy.The blood aminoacids,acylcarnitine and urine organic acid profiles were normal.Lysosomal palmitoyl protein thioesterase and tripeptidyl peptidase activities of peripheral leukocytes were normal.A compound heterozygous mutation of c.1351-1G ＞ A and c.300T ＞ G was detected on her MFSD8 gene,supporting the diagnosis of CLN7.Both of the 2 mutations were novel.Each of her parents carried one of the mutations.Two brothers of the proband had similar clinical process.Her elder brother died at the age of 7 due to severe encephalopathy of unknown etiology.The younger brother showed dyskinesia from the age of 2 years and seizures from the age of 4 years.A compound heterozygous mutation on MFSD8 gene,c.1351-1G ＞ A and c.300T ＞ G,was found from the younger brother,as same as the proband.Conclusions CLN7 is a rare disorder of CLN.In this study,the diagnosis of the 3 siblings with similar clinical process were much delayed.Gene analysis was key for the diagnosis.Two novel mutations were found on MFSD8 of the family.There is still no effective treatment for neurol ceroid lipofuscinosis.The prognosis is poor.Based on the mutation diagnosis,prenatal diagnosis for the next sibling is possible to the prevention of the disease.

Diabetes is a common chronic metabolic disease characterized by hyperglycemia. Oxidative stress and oxidative damage have been proposed to contribute to the occurrence and development of diabetes and its complications. With the selective antioxidant effects， hydrogen molecule has attracted wide attention， from researchers at home and abroad， regarding its role in diabetes and its complications. Great progress has been made in promoting hydrogen molecular medicine in the field of diabetes. This review mainly focused on two aspects of the research： basic experiments and clinical trials. In the basic experimental research part， the effects of hydrogen molecule on blood glucose regulation and diabetic complications were discussed. The aim of this review was to provide ideas and references for further research of hydrogen molecules on diabetes and its complications.

Objective·To analyze the basic medical insurance policies for children in Shanghai in 2011 and 2017, and compare with those of the other three municipalities to understand the basic medical security status of children in four municipalities in China and analyze the existing problems. Methods?·?The current effective children's basic medical insurance policies and child critical illness insurance policies and related insurance systems in four municipalities were collected systematically. The types of basic medical insurance for children in various municipalities and their funding standards, their own expenses and the proportion of government subsidies, the proportion of outpatient emergency payoff lines and reimbursement at all levels of medical institutions, and the coverage and coverage of major illness insurance reimbursement were collected and compared mainly. Results?·?The basic medical insurance for children in Shanghai is a "double insurance" system, which contained children's hospitalization fund and basic medical insurance for urban and rural residents. The basic medical insurance for children in other municipalities mainly consisted of basic medical insurance for urban (rural) residents. Compared with 2011, the level of financing and the reimbursement of the basic medical insurance for urban and rural residents and of the children's hospitalization fund in Shanghai in 2017 was increased. In 2017, the level of financing of basic medical insurance for urban and rural residents in Shanghai was 1?100 yuan, which was slightly lower than that of Beijing medical insurance for urban residents and new rural cooperative medical insurance and was higher than that of basic medical insurance for urban and rural residents in Tianjin and Chongqing, and the individual payment level of Shanghai was the lowest. The hospitalization payoff lines in Shanghai were lower than those of other municipalities. Shanghai's outpatient and inpatient reimbursement levels were higher those of than other municipalities. There wasn't a capping line in Shanghai. There were capping lines in other municipalities. There was a great difference in the insurance policy of the major diseases in four municipalities. Conclusion?·?According to their own actual conditions, models for children's medical care systems that suited each municipalities’ social and economic development have been established. Shanghai children's basic medical insurance basically meets the needs of children's growth but needs improvement in terms of the type and level of medical security for major illnesses.

In the outbreak of COVID-19,triage procedures based on epidemiology were implemented in a local hospital in Changsha to control the transmission of SARS-CoV-2 and avoid healthcare-associated infection.This re-trospective study analyzed the data collected during the triage period and found that COVID-19 patients were en-riched 7 folds into the Section A designated for patients with obvious epidemiological history.On the other side,nearly triple amounts of visits were received at the Section B for patients without obvious epidemiological history.8 COVID-19 cases were spotted out of 247 suspected patients.More than 50％of the suspected patients were submi-tted to multiple rounds of nucleic acid analysis for SARS-CoV-2 infection.Of the 239 patients who were diagnosed as negative of the virus infection,188 were successfully revisited and none was reported as COVID-19 case.Of the 8 COVID-19 patients,3 were confirmed only after multiple rounds of nucleic acid analysis.Besides comorbidities,delayed sharing of epidemiological history added complexity to the diagnosis in practice.The triaging experience and strategy will be helpful for the control of infectious diseases in the future.

According to the polarity of different components in Sanpian Decoction, two fingerprints were established. Then the substance benchmark freeze-dried powder of 15 batches of Sanpian Decoction was prepared, followed by the determination of the fingerprints, index component content, and dry extract rates, the identification of attribution of characteristic peaks, and the calculation of similarities between these fingerprints and the reference(R), the content and transfer rate ranges of ferulic acid, sinapine thiocyanate, liquiritin, and glycyrrhizic acid, and the dry extract rate range. The results showed that the similarities of 15 batches of the substance benchmark fingerprints with R were all greater than 0.900.Further summarization of the characteristic peaks revealed that there were a total of 20 characteristic peaks in fingerprint 1, among which, eight were from Sinapis Semen, four from Paeoniae Radix Alba, six from Chuanxiong Rhizoma, and two from Glycyrrhizae Radix et Rhizoma. A total of 16 characteristic peaks were observed in fingerprint 2, including one from Sinapis Semen, three from Paeoniae Radix Alba, eight from Chuanxiong Rhizoma, and four from Glycyrrhizae Radix et Rhizoma. The average dry extract rate of 15 batches of substance benchmarks was 18.25%, with a dry extract rate range of 16.28%-20.76%. The index component content and transfer rate ranges were listed as follows: 0.15%-0.18% and 38.81%-58.05% for ferulic acid; 0.26%-0.42% and 36.51%-51.02% for sinapine thiocyanate; 0.09%-0.15% and 48.80%-76.61% for liquiritin; 0.13%-0.24% and 23.45%-35.61% for glycyrrhizic acid. The fingerprint, dry extract rate, and index component content determination was combined for analyzing the quality value transfer of substance benchmarks in the classic prescription Sanpian Decoction.The established quality evaluation method for the substance benchmarks was stable and feasible, which has provided a basis for the quality control of Sanpian Decoction and the follow-up development of related preparations.
Benchmarking ; Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; Glycyrrhizic Acid/analysis* ; Paeonia ; Quality Control ; Thiocyanates

OBJECTIVE: This study aimed to investigate the potential relationship between urinary metals copper (Cu), arsenic (As), strontium (Sr), barium (Ba), iron (Fe), lead (Pb) and manganese (Mn) and grip strength. METHODS: We used linear regression models, quantile g-computation and Bayesian kernel machine regression (BKMR) to assess the relationship between metals and grip strength. RESULTS: In the multimetal linear regression, Cu (β = -2.119), As (β = -1.318), Sr (β = -2.480), Ba (β = 0.781), Fe (β = 1.130) and Mn (β = -0.404) were significantly correlated with grip strength ( P < 0.05). The results of the quantile g-computation showed that the risk of occurrence of grip strength reduction was -1.007 (95% confidence interval: -1.362, -0.652; P < 0.001) when each quartile of the mixture of the seven metals was increased. Bayesian kernel function regression model analysis showed that mixtures of the seven metals had a negative overall effect on grip strength, with Cu, As and Sr being negatively associated with grip strength levels. In the total population, potential interactions were observed between As and Mn and between Cu and Mn ( P _interactions of 0.003 and 0.018, respectively). CONCLUSION In summary, this study suggests that combined exposure to metal mixtures is negatively associated with grip strength. Cu, Sr and As were negatively correlated with grip strength levels, and there were potential interactions between As and Mn and between Cu and Mn.
Cross-Sectional Studies ; Bayes Theorem ; China/epidemiology* ; Metals/toxicity* ; Arsenic ; Strontium