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.

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

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

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.

Adult ; Female ; Humans ; Myocardial Infarction ; Puerperal Disorders

Objective To investigate the prevalence and spectrum of β-thalassemia mutations in C, uangdong province, and provide a reference for prenatal diagnosis and genetic counseling in this population. Methods Three thousand two hundred and forty-seven blood samples were randomly selected from Guangzhou and 2984 blood samples from Shenzhen from January in 2005 to January in 2009. PCR and reverse dot blot hybridization (RDB) were adopted for detection of β-thalassemia mutations in Guangzhou and Shenzhen city. Results Seven hundred and fifty-one individuals in Guangzhou were found to have β-hemoglobin gene mutations, the detection rate was 23.13%(751/3247); 10 different mutations were identified, namely CD41-42(-TCTT), IVS-Ⅱ-654(C→T), -28(A→G), CDI7(A→T), CD71-72(+A), 13E, IVS-I-1(G→T), CD43(G→T), -29(A→G), CDI4-15(+G), which accounted for 42.53% (336/790) ,25.19% (199/790), 12.66% (100/790), 10.89% (86/790) ,3.29% (26/790), 2.15%(17/790), 1.27%( 10/790), 1.14%(9/790) ,0.51%(4/790) ,0.38%(3/790), respectively; the most common mutation was CD41-42(-TCTT), which accounted for 42.53%(336/790). In Shenzhen, 179 individuals were found to have β-thalassemia mutations, the detection rate was 6.00% (179/2984); 8 different mutations were identified excluding CD43 (G→T) and CD14-15 (+G); the most common mutation, however, was IVS-lI--654(C→T), which accounted for 40.44% (74/183). Conclusions The β-thalassemia mutations in Guangdong province are not only frequent, but also obviously heterogeneous, and the mutations differ from region to region. CD41-42 (-TCTT),ⅣS-Ⅱ-654(C→T), -28(A→G), CD17(A→T) were the 4 predominant mutations.

Objective To study a novel method for the high-dose-rate brachytherapy (HDR) CT image to the intensity modulated radiation therapy (IMRT) CT image deformable image registration and dose accumulation.Methods The applicator in the HDR CT image is first segmented and removed,then a deflation step is performed on the applicator-free HDR CT image by solving the Navier-Stokes equation.Demons algorithm is utilized to register the deflated HDR CT image to the IMRT CT image,along with the HDR dose.The deformed HDR dose is then added on the IMRT dose and yield the final accumulated dose.Results The HDR CT image and IMRT CT image,as well as the corresponding dose distribution,from five cervical cancer patients are used for evaluation of the proposed algorithm,the results show that the proposed method can effectively get rid of the influence of the applicator and produce an accurate accumulated dose.Conclusions Dose accumulation and supervision is an important step in adaptive radiotherapy for accurate dose delivery and treatment plan re-optimization.The proposed method in this study can effectively accumulate the HDR dose to the IMRT dose domain,and the accuracy is proved to be sufficient for clinical needs.

BACKGROUND:Mandibular fractures often harm patient’s work and life. Intermaxilary traction nail with smal/mini-titanium plate, relative to traditional dental arch splint combined with smal/mini titanium plate treatment alone, is characterized by short treatment time and good fixation effect, which can improve the maxilofacial dysfunction and promote the early completion of the treatment.
OBJECTIVE:To explore the curative effect of intermaxilary traction nail with mini-titanium plateversus dental arch splint combined with smal/mini-titanium plate on mandibular fractures
METHODS:Ninety cases of mandibular fractures hospitalized at the Department of Oral and Maxilofacial Surgery, Stomatological Hospital of Southwest Medical University in China from July 2011 to May 2015 were enroled in this study. These patients were equivalently randomized into control group subjected to dental arch splint combined with smal/mini-titanium plate and observation group subjected to intermaxilary traction nail with mini-titanium plate. Al the patients were folowed up for 4-6 months. Curative effects, including excelent and good rate and total efficiency, were compared between the two groups. Maxilofacial function and incidence of adverse reactions were observed and recorded, respectively, to analyze the experimental data and assess their clinical values.
RESULTS AND CONCLUSION:The total efficiency and the maxilofacial function were significantly better in the observation group than the control group (P < 0.05). Plaque and debris index was increased significantly in the control group compared with the experimental group before and after treatment (P < 0.05). The gingival index had no significant changes in the observation, but it was increased significantly in the control group before and after treatment (P< 0.05). The number of cases of adverse reactions was significantly less in the experimental group than the control group (P < 0.05). These results show that the effect of internal fixation with intermaxilary traction nail combined with smal/mini-titanium plate mini titanium plate and mini titanium plate was good, safe and reliable.

ObjectiveTo find out if the immune system derived thyroid stimulating hormone(TSH) β splice variant(TSHβ-Ⅴ) would be regulated by circulating thyroid hormone levels to get a further understanding of the function and mechanism of this TSHβ-Ⅴ in thyroid homeostasis.MethodsA total of 20 weaning Balb/c mice (half male and half female) were selected and randomly divided into two groups according to their body mass and gender(n =10).Mice of control group were fed with common diet and deionized water.Mice of the low-iodine(LI) group were fed with low-iodine diet(containing iodine 20 - 40 μg/kg,iodine-intake about 0.25 μg/d) and deionized water.The experimental period was 3 months.At the end of the experiment,mice were executed and the blood was collected to observe the levels of TSH and thyroid hormone by chemiluminescence immunoassay (CIA) ; bone marrow (BM),peripheral blood(PBL),thyroid gland and pituitary were collected to assay the TSHβ-Ⅴ mRNA expression by real-time quantitative reverse transcriptase polymerase chain reaction (RT-PCR).ResultsThe serum free thyroxine(FT4) and total thyroxine(TT4) levels in LI group of mice[(0.47 ± 0.70)nmol/L,(2.41 ± 0.28)pmol/L] were significantly lower than that of the control group of mice [(55.2 ± 3.68) nmol/L, (32.72 ± 1.02) pmol/L,t =43.81,86.04 、all P ＜ 0.01 ] and the serum total triiodothyronine(TT3) and free triiodothyronine(FT3) reduction in LI group of mice[ (0.76 ± 0.08)nmol/L,(4.01 ± 0.40)pmol/L] were significantly lower than that of the control group of mice [ (1.10 ± 0.06)nmol/L,(5.40 ± 0.38)pmol/L,t =9.81,7.5 1,P ＜ 0.01 ].Iodine insufficiency strongly elevated the serum TSH in LI group of mice[ (35.67 ± 17.39)mU/L] than that in control group of mice[ (0.24 ± 0.10)mU/L,t =- 6.11,P ＜ 0.01 ].The mRNA levels of TSH β-Ⅴ in BM (9.62 ± 0.60) and in PBL( 9.25 ± 0.83 ) of LI group of mice were lower than those in control group of mice (7.69 ± 0.36,7.11 ± 0.41,t =6.77,5.64,P ＜ 0.01),while the mRNA level of TSH β-Ⅴ in pituitary of LI group of mice (1.99 ± 0.61) was increased compared with that in control group of mice (5.75 ± 0.98,t =- 8.02,P＜ 0.01).Compared with control group of mice(9.12 ± 0.62),the level of thyroid TSH β-Ⅴ mRNA in LI group of mice (9.32 ± 0.91 ) was not significantly changed (t =0.45,P ＞ 0.05).There was no detectable native TSHβ in BM,PBL and thyroid.The mRNA level of native TSHβ in pituitary in LI group of mice( - 7.17 ± 1.78) was dramatically elevated compared to that in control group of mice( - 1.43 ± 0.51,t =- 7.60,P ＜ 0.01 ).ConclusionsThe mRNA levels of TSHβ-Ⅴ are suppressed in BM and PBL in low iodinediet induced hypothyroidism mice,which suggest that immune system derived TSHβ-Ⅴ may be more important thannative TSHβ in immune-thyroid regulation.