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.

Child ; Epidermal Cyst ; Humans ; Keratoderma, Palmoplantar ; Nails, Malformed ; Skin Diseases ; Syndrome

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

Objective To develope both qualitative and quantitative analytic method of the four urinary markers,i.e.lactate,uracil,orotate and hippurate,from ornithine transcarbamylase deficiency(OTCD) by Gas Chromatography-Mass Spectrometry(GC-MS).Methods Urea in urine samples was decomposed with urease,and heptadecanoiate was added as internal standard,then protein was denatured with ethanol and removed by centrifugation.After evaporation,the residue was derivatized trimethylsilylly by BSTFA/TMCS,and analyzed by GC-MS.ResultsThe markers can be separated in total ion current profiles,with indentifications confirmed by mass spectra.The significantly elevated levels of lactate,uracil and orotate in urine from OTCD patient were droped to normal or subnormal levels,together with large amount of hippurate excretion in the urine,after clinical therapeutic measures,including introduction of benzoic acid,were performed.Conclusion GC-MS analysis of the urinary markers is a valuable tool for the diagnosis and evaluation of the therapeutic outcome of OTCD.

Objective To examine the effects of intravenous thrombolysis with Tissue-type plasminogen activator (rt-PA) combined with mild hypothermia therapy on patients with acute cerebral infarction and further investigate under?lying mechanism for the treatment of cerebral infarction. Methods Sixty cases of cerebral infarction patients were random?ly divided into three groups with 20 patients in each group:①The control group was given rt-PA intravenous thromboly?sis;②The treatment group 1:intravenous thrombolytic therapy combined with local mild hypothermia treatment for 12 h;③The treatment group 2:intravenous thrombolytic therapy and local mild hypothermia in the treatment of 24 h. We col?lected NIHSS score before and after thrombolytic therapy, patient monitoring (ICP) changes during thrombolytic therapy, March (MRS) score and complications during follow-up after thrombolysis, The serum levels of SOD and MDA were as? sessed before and after thrombolytic therapy. Results NIHSS score was lower in both treatment group 1 and treatment group 2 than in the control group (P<0.05) at 72 h, 7 d, 14 d after thrombolysis. MRS was lower in both treatment group 1 and treatment group 2 than in the control group (P<0.05) at 3 months after thrombolytic therapy. MRS were lower in treat?ment group 2 than in the treatment group 1 (P<0.05). ICP in treatment group 1 and the concentration of MDA in treat?ment group 2 were lower, compared with control group (P<0.05) at 24 h, 72 h and 7 d after thrombolysis. ICP was lower in treatment group 2 than treatment group 1 at 7d after thrombolysis. The concentration of SOD was higher in treatment groups than in control group (P<0.05) at 24, 72 h and 7d after thrombolysis. ICP and MDA concentration were lower in treatment group 2 than in treatment group 1(P<0.05) at 72h and 7d after thrombolysis. The concentration of SOD was higher in treatment group 2 than in the treatment group 1 at 7 d after thrombolysis (P<0.05). There was no significant dif?ference in adverse events and mortality among groups (P>0.05). Conclusion Rt-PA intravenous thrombolysis combined with mild hypothermia treatment can improve the prognosis of patients with cerebral infarction without increasing the inci?dence of adverse reactions. In addition, thrombolysis combined with mild hypothermia 24 h has better effect than with mild hypothermia 12 h. The beneficial effects may be accomplished by reducing oxidative stress reaction.

Background Percutaneous nephrolithotomy (PCNL) was mostly performed with fluoroscopy and/or ultrasonography.The safety and feasibility of PCNL performed totally under ultrasound are not clearly defined.Therefore,we introduce the 9-year experience of 8 025 ultrasound guided PCNL procedures from multiple centers in China performed by the same surgeon,to evaluate the feasibility and security of this technique.Methods From September 2004 to August 2013,8 025 cases,4 398 males (54.8％) and 3 627 females (45.2％),whose age ranged from 6 months to 85 years old,with upper urinary tract stones,underwent PCNL in our center and the supported hospitals.Puncture site selection and channel dilation were all guided using only Doppler ultrasound.Single stones were treated in 1 356 cases,there were 2 817 cases of multi stones,and 3 852 cases of staghorn calculi.The pre-and post-operative imaging data,the intraoperative findings,operation time,perioperative complications,and related parameters were recorded.Results All procedures were successful.No patients died during the operation.Average operation time was 42 minutes (range 10 to 168 minutes),4 cases converted to open surgery,and 2 patients lost the diseased kidney due to refractory bleeding in the early stage of the PCNL.Ninety-four (1.2％) patients received blood transfusions and 20 (0.25％) patients needed highly selective renal artery embolization.Fifteen (0.19％) patients had a pleural injury.5 457 (68％) cases were completed by a single tract and 2 568 (32％) cases added more tracts.The mean stone size (longest diameter) was 2.8 cm (range 1.2 to 26.5 cm).The final stone-free rate was 85.5％.Residual stones occurred mainly in patients with renal dysfunction,medullary sponge kidney,and complete staghom calculi with a slim calyceal neck.Conclusions X-ray free Doppler ultrasound guided percutaneous nephrolithotomy is feasible and safe in a variety of cases of renal and/or upper ureteral stones.The probability of radiation hazard and adjacent organ injury is low.The morbidity from major complications was reduced remarkably after special training.It is worthy of wider use compared with fluoroscopy in patients with special kidneys (e.g.solitary kidney,spinal deformity,ectopic kidney) and in infants.

This paper studied the HPLC and NIRS fingerprints of Chrysanthemum with different processing methods, including directly drying, drying after steamed, and drying after fried. The method of discriminant analysis of TQ software was used to analysis the NIRS fingerprint of Chrysanthemum with three different processing methods, and the results were consistent with HPLC fingerprint similarity analysis. NIRS and HPLC fingerprints were of different characteristics, and the combination of the two methods can quickly and accurately identify Chrysanthemum with different processing methods.
Chemistry, Pharmaceutical ; Chromatography, High Pressure Liquid ; methods ; Chrysanthemum ; chemistry ; Drugs, Chinese Herbal ; chemistry ; Spectroscopy, Near-Infrared ; methods

Objective To analysis the quality of life of patients with active ankylosing spondylitis (AS).Methods The quality of life was assessed in 52 patients with active AS using SF-36 and was compared with the general population.The correlation between the quality of life and the clinical measures of disease,in- cluding the Bath AS disease activity index(BASDAI),Bath AS functional index(BASFI),Bath AS metrology index(BASMI),patient's global assessment(PGA),spinal inflammation,total back pain,nocturnal back pain, and enthesis index(EI),were determined.Results The patients with active AS reported significant decreased scores on all dimensions of SF-36.The score of physical health components was poorer than that of mental health components.BASFI was the strongest factor correlated with the score of SF-36,followed by BASDAI and PGA.BASMI and total back pain were correlated with three dimensions only.In multivariate regression analysis,BASFI showed relative closer relationship to the qulity of life with active AS than other clinical mea- sures of disease and it accounted for 50.3%,35.2% and 47.9% of the variance in the physical health compo- nents,the mental health components and the overall score of SF-36,respectively.Conclusion The quality of life in patients with active AS is significantly declined compared with general population.The physical aspects seem to be more severely affected.Functional status of the patients with active AS are correlated with the quality of life closely.

Objective To investigate early and differential diagnosis of Alzheimer disease and vascular dementia (VD)using FDG-PET scan. Methods Clinical data was collected from AD,VD and normal control(NC). 18F-2-fluo-ro-deoxy-D-glucose(18F-FDG)PET scan was conducted to detect the cerebral FDG metabolism. The average standard uptake value (SUV) of cerebral regions was expressed as semiquantitative index relative to ipsilateral cerebellum. Re-sults There were no differences in age and the mean total scores of the mini mental status examination (MMSE) between patients with VD and those with AD.The AD group showed that the SUV was significantly decreased in the right frontal, parietal,temporal lobe,hippocampus,temporo-parietal junction,and bilateral posterior cingulate cortex compared to the VD and in the bilateral posterior cingulate cortex,temporo-parietal junction,frontal and temporal lobe comparing to the NC(P≤0.01). SUV was significantly increased in the right parietal,posterior cingulate cortex and hippocampus whereas was significantly decreased in the left frontal lobe,temporo-parietal junction and thalamus in the VD compared with NC group(P≤0.01). Conclusion AD patients have typical features of 18F-FDG PET which may be helpful for the diagnosis of AD in the early stage.