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.

Objective To detect the incidence of inherited metabolic diseases(IMD)and disorders of metabo-lism in 4 710 high - risk infants,as well as providing basis of clinical diagnosis and treatment by using urease pretreat-ment - gas chromatography - mass spectrometry(UP - GC - MS). Methods Samples were collected from high - risk infants with IMD,after removing urea,putting in internal standard,removing protein,vacuum drying and bis (trimethyl - silyl)trifluoroacetamide / trimethyl - chlorosilane derivativing,UP - GC - MS was used to analyze compo-sitions such as organic acids,amino acids,carbohydrates,pyridoxines,purines and pyrimidines,then metabolic analysis was proceeded to refer to the normal detection value of the healthy children,finally a metabolic diagnosis was made ba-sing on the clinical data such as the high - risk clinical manifestations and general biochemical tests and other special examinations. Results In the 4 710 cases,there were 98 cases of IMD(2. 1% ),326 cases of suspected IMD(6. 9% ), 2 610 cases of metabolic disorders(55. 4% ). There were 98 cases of IMD,including 57 cases of methylmalonic aciduria,12 cases of propionic acidemia,7 cases of glutaric aciduria,5 cases of hyperphenylalaninemia,maple syrup u-rine disease and multiple carboxylase defects each,4 cases of isovaleric acidemia and 3 cases of 4 - hydroxy butyric acid urine disease. Conclusions UP - GC - MS is a effective way to diagnose IMD and metabolic disorders of infants. Common IMD in Guangdong Province include methylmalonic aciduria,propionic academia,glutaric aciduria,hyperphe-nylalaninemia,maple syrup urine disease and multiple carboxylase defects. The results of the tests can provide effective guidance for diagnosis and treatment of suspected infants.

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.

OBJECTIVETo investigate the therapeutic efficacy of bone-setting manipulative reduction and small splint fixation combined with micro-movement theory exercise for treatment of humeral shaft fractures.

METHODSFrom March 2011 to February 2014, 64 cases of humeral shaft fractures were treated by bone-setting manipulative reduction and small splint fixation including 28 males and 36 females with an average age of 38.1 years old ranging from 22 to 67 years old. According to the classification of AO/OTA, there were 10 cases of type A1, 12 cases of type A2,11 cases of type A3,10 cases of type B1,12 cases of type B2, 7 cases of type B3, 2 cases of type C1, 1 case of type C2, 1 case of type C3. After close reduction early functional exercise performed according to micro-movement theory. All patients had no other parts of the fractures, neurovascular injury, and serious medical problems. Patients were followed up for fracture healing, shoulder and elbow joint function recovery, and curative effect.

RESULTSAll patients were followed up from 10 to 12 months with an average of 10.3 months. Of them, 2 cases had a small amount of callus growth at 3 months after close reduction, so instead of operation; 2 cases appeared radial nerve symptoms after close reduction ,so instead of operation. Other patients were osseous healing, the time was 8 to 12 weeks with an average of 10.2 weeks. After osseous healing, according to Constant-Murley score system ,the average score was (93.5 ± 3.2) points, the result was excellent in 29 cases, good in 29 cases, fair in 6 cases, excellent and good rate was 90.3%; according to the Mayo score system, the average score was (93.7 ± 4.2) points, the result was excellent in 35 cases, good in 23 cases, fair in 6 cases, excellent and good rate was 91.9%.

CONCLUSIONBone-setting manipulative reduction and small splint fixation combined with micromovement theory exercise for treatment of humeral shaft fractures has advantage of positive effect, easy and inexpensive method, the treatment has relevant scientific basis and practical value, it can effectively reduce complications, promote patients early recovery.

Adult ; Aged ; Exercise Therapy ; Female ; Fracture Healing ; Humans ; Humeral Fractures ; physiopathology ; therapy ; Male ; Manipulation, Orthopedic ; methods ; Middle Aged ; Movement ; Splints