The organic acidemia/aciduria is one of the most common inherited metabolic disorders in clinic,more than 50 species have been found until now.The illness is believed to be caused by gene mutation,leading to the reduction or loss of enzyme activity and the accumulation of carboxylic acid and its metabolites.The manifestations of increased blood organic acids include refractory metabolic acidosis,paroxysmal vomiting,feeding difficulties,hypotonia,convulsions and disturbance of consciousness.Most of the organic acidemia begins in neonatal period or infancy,accompanied by progressive neurological damages at most of the time.There are little specific clinical features can be found in this kind of diseases,therefore,early diagnosis and treatment must be initiated in order to decrease risk of neurological induries and damages or acute deaths.So application of the gas chromatography-mass spectrometry and tandem mass spectrometry is important to the early diagnosis,helpful for improving the outcomes and reducing child mortality.

Urea cycle disorder is a common inherited metabolic disorder,and it is the most common genetic cause of hyperammoniema in children.The illness is believed to be caused by gene mutation of six main enzymes in urea cycle,leading to ammonia,which is produced by amino acid catabolism,can't conver to urea through the urea cycle and be discharged through the urine.The manifestations of hyperammonemia turn out to be disorders of brain function (refusing to milk,vomiting,drowsiness,coma,convulsions,ataxia,aggressive behaviors).The incidence of this disease is 1/30 000.At the same time,the severity of the clinical symptoms is connected with the extent of the enzymes defects.More serious the enzymes defected,the earlier and worse the disease onsets.Some children with mild enzyme defects may intermittently attack or have a delay onset.Serious nervous system injuries can be found in hyperammonernia,therefore,early diagnosis and treatment must be ensured in order to decrease risk of mental injuries and damages or acute deaths.

ObjectiveTo discuss the curative effects of sodium aescinate tablet on traumatic leg swelling.Methods168 cases were divided into four groups.54 cases of Ⅰ degree leg swelling were randomly divided into two groups,one group were treated with no drug and the other with sodium aescinate tablet.114 cases of Ⅱ and Ⅲ degree leg swelling were randomly divided into two groups,one group were treated with mannitol and the other with mannitol and sodium aescinate tablet.All cases were treated for 7 days and observed on leg swelling.ResultsThe curative effects of group with sodium aescinate tablet were superior to the group with no drug.The curative effects of group with both sodium aescinate tablet and mannitol are superior to group with mannitol.ConclusionSodium aescinate tablet had obviously curative effects on trautic leg swelling.Both sodium aescinate and mannitol could be used to treat leg swelling of Ⅱ and Ⅲ degree.

The incidence of swallowing disorder is high in previous research both in oral and pharyngeal stage, and there are many related factors contributing to the assessment of swallowing function. This article reviewed the research progress of dysphagia after traumatic brain injury (TBI) from epidemiology, assessment methods, characteristics, risk factors, therapeutic strategies and clinical outcome。

Objective To observe the protective effects of natural antioxidant tea polyphenols(TP) on myocardial free radical metabolic disorder in mice induced by inhalation of hypobaric pure oxygen under 5500 m hypobaric condition. Method Fourty-two male Kunming mice were randomly divided into three groups(n=14 each):group A, normal control; group B, inhalation of pure oxygen(>96%) at simulated altitude of 5500 m in an animal altitude chamber;group C(TP protection group), same as group B but 100 mg/kg of TP was given orally before the exposure. The exposure time was 2 h/d,3 d/wk for a total of 8 wk, and distilled water was given to groups A and B before exposure. After experiment, the mice were decapitated on the next day and the heart was quickly removed. Malondialdehyde(MDA) concentration, superoxide dismutase(SOD) activity and nitric oxide(NO) content were measured. In addition, Cu,Zn-SOD and inducible NO synthase(iNOS) enzymatic contents in myocardial tissue were qualitatively examined by immunohistochemical assaying. Result Compared with the control, MDA concentration, SOD activity and Cu,Zn-SOD enzymatic content in group B were significantly increased(P<0.05).But in TP protection group, myocardial MDA formation was significantly decreased(P<0.01) and SOD activity and Cu,Zn-SOD expression restored to normal. On the contrary, myocardial NO generation and iNOS expression were significantly reduced after repeated inhalation of hypobaric oxygen at 5500 m.NO metabolism regained to normal after repeated administration of TP. Conclusion Natural antioxidant TP had protective effects on myocardial free radical metabolic disorder induced by inhalation of hypobaric pure oxygen under 5500 m hypobaric condition.

Objective To explore the mechanism of aluminum-induced damage of learning and memory by studying the change of calcium-calmodulin-dependent protein kinase Ⅱ(CaMKⅡ) in the hippocampus of lactational rats. Methods Three groups of clean pregnant Wistar rats (120-200 g) were randomly divided into 3 groups. On the first day of parturition, the dams of two groups were given 0.3% and 0.6% AlCl3 through drinking water and terminated on the weaning day (21 days). Western blot was used to determine the content and activity of ?-CaMKⅡ. Results The aluminum levels in the blood and brain of aluminum-treated rats were obviously higher than that in the control (P

Objective To investigate the surgery outcomes between patients with different recovery states measured by visual analog scores (VAS),explore the relationships among surgery outcomes,bone cement,and degrees of pain relief,and to find out the best combination of cement volume and cement distribution for Percutaneous kyphoplasty (PKP).Methods There were 220 patients with 220 vertebra,from January 2012 to January 2014,who received PKP in our hospital.Patients were divided into two groups,on the basis of different VAS.The epidemiological data,operative effect,and surgical complications were compared between two groups.Characteristic curve (ROC) was used to analyze the effect of bone cement dosage and distribution on the diagnosis of patients with different recovery state.The correlation was analyzed between the dose and distribution of bone cement and surgery outcomes.Moreover,logistic regression analysis was used to assess the safety of cement implantation.Results A total of 77 recuperators and 143 non-recuperators were included in the study.Two groups of patients in epidemiological data showed no significant difference.The surgery duration,bone cement injection dose,cement distribution,vertebral height restoration rate and improvement of kyphotic angle in the recuperator group were all significantly higher than those in the non-recuperator group.Whether small dose and large dose of bone cement volume and expanded the bone cement distribution area could significantly improve the patient of operation after the recovery rate and bone cement dose with extensive bone cement distribution area and large bone cement dose with limited bone cement distribution area had the same operation after the recovery effect (x2 =2.880,P =0.090).When the cement volume was constant,cement distribution was positively correlated with the restoration rate of vertebral height and improvement of the kyphotic angle (r2 =0.207,P ＜ 0.01;r2 =0.159,P =0.02).Conclusions The value of cement distribution is better than cement volume in relieving patient pain for diagnostic.For PKP,cement distribution above 0.49 with small cement should be suggested.

Amino Acid Metabolism, Inborn Errors ; pathology ; Child, Preschool ; Humans ; Male ; Twins