Objective To study the characteristics of cerebral glucose metabolism in adults with hypoxic-ischemic encephalopathy (HIE) using positron emission tomography (PET) and statistical parameter mapping (SPM), and evaluate the degree of the cerebral glucose metabolism damaged. Methods 26 HIE patients and 20 healthy controls received 18F-FDG PET imaging. The scope and degree of the brain radioactivity decrease were observed with visual analysis. The three-dimensional projection images and the KE value were obtained by SPM analysis. Results The glucose metabolic decrease in HIE was primarily bilaterally. The bilateral basal ganglia and thalamus metabolism decreased most obviously. The brain cortical lobes varied degrees of metabolic decrease according to the order from high to low was the frontal, occipital, parietal and temporal lobes. The basal ganglia and thalamus were taken as the important target area of the evaluation of damage degree, the degree of damage of HIE was divided into Level Ⅰ(mild), Level Ⅱ(moderate) and Level Ⅲ (severe) combined with cortex damage. Conclusion The basal ganglia and thalamus are the target areas of metabolic damage, the classification combined with brain cortex damage degree and scope can be used to guide the clinical treatment and prognosis evaluation.

[Objective]To compare the clinical application value of fusion imaging of ultrasound(US)and computed tomogra-phy(CT)or magnetic resonance(MR)(US-CT/MR fusion imaging)and fusion imaging of US and three-dimensional US(US-US fusion imaging)in treatment response assessment of thermal ablation combined with other surgeries and procedures.[Methods]This clinical research included patients confirmed with liver cancers that underwent thermal ablation combined with other surgeries and procedures from Aug to Dec 2015. Both US-CT/MR and US-US fusion imaging together with contrast-enhanced US was applied on the same patient to assess the treatment response of the thermal ablation during the ablation procedure. The applicable rate ,the success rate of registration and the duration required for fusion imaging were recorded and compared. Contrast-enhanced CT/MR 1-3 months after the ablation procedure was taken as the golden reference of the technical efficacy rate for ablation.[Results]67 liver can-cers in 50 patients were enrolled in this clinical research in total. The ablation of 47 lesions in 37 patients were combined with artifi-cial hydrothorax or ascites ,14 lesions in 10 patients with open surgeries and 8 lesions in 5 patients with laparoscopy surgeries. The applicable rate for US-US fusion imaging[52.5%(35/67)]was lower than that for US-CT/MR fusion imaging[98.7%(66/67)](P<0.001)while the success rate of registration for US-US fusion imaging[88.6%(31/35)]was higher than that for US-CT/MR[66.7%(44/66)](P=0.018). The duration time for US-US fusion imaging[3.8 min(2.7~10.0 min)]was significantly shorter than that for US-CT/MR fusion imaging[5.5 min(3.0 ~ 14.0 min)](P < 0.001). No major complication related to ablation was observed. The technical efficacy rate for ablation was 100%(62/62)according to the contrast-enhanced CT/MR 1-3 months after the ablation proce-dure.[Conclusion]For ablation combined with other surgeries and procedures ,US-US fusion imaging should be priority when the tumor is conspicuous in US,especially for cases combined with open surgeries while US-CT/MR fusion imaging should be selected in some cases when the tumor is inconspicuous on US.

Objective To evaluate the feasibility and efficacy of mono-modality fusion imaging using ultrasound in the intraoperative immediate evaluation of therapeutic response of liver cancer thermal ablation.Methods A total of 70 liver cancers in 53 patients that underwent thermal ablation from October to November 2015 were included in this study.Mono-modality fusion imaging using ultrasound was applied immediately after the ablation procedure to evaluate the therapeutic response of the thermal ablation.The applicable rate,the success rate of registration,the duration time,the evaluation results and the rate of supplemental ablation were recorded.Ultrasound examination was performed on the first day after ablation to evaluate the early complication.Contrast-enhanced CT/MR within 1-3 months after the procedure was regarded as the golden criteria of the treatment response.In the follow-up period,the rate of local tumor recurrence,progression-free survival and overall survival were analyzed.Results The applicable rate for mono-modality ultrasound fusion imaging is 62.9％ (44/70) while the success rate of registration is 90.9％ (40/44).The duration time for mono-modality is 2.7-7.5 min,with an average of (3.9 ± 0.9) min.Thirty-seven out of 40 liver cancers were evaluated to achieve safety margin and 3 out of 40 were not.The rate of supplemental ablation was 40％ (16/40).The rate of complete ablation was 97.3％ (36/37) according to contrast-enhanced CT/MR within 1-3 months.In the follow-up period,no local tumor recurrence was observed and the rates of intra-hepatic recurrence and overall survival were 46.7％ (14/30) and 96.7％ (29/30),respectively.Conclusions Mono-modality ultrasound fusion imaging is a convenient,feasible,safe and efficient method in the intraoperative immediate evaluation of therapeutic response of liver cancer thermal ablation.

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

Objective To investigate the feasibility and accuracy of three-dimensional ultrasound-ultrasound(3DUS-US)fusion imaging based on electromagnetic positioning in the assessment of ablation zone of liver tumor through experimental study in phantom models.Methods Sixteen phantom models which could be ablated and used to assess the ablation zone were established.Then,they were ablated and divided into complete ablation group(n =8)and incomplete ablation group(n =8)randomly.Their ablation effects were assessed by 3DUS-US fusion imaging.If the tumor model was assessed as incomplete ablation,the maximum thickness of the residual tumor was measured.The assessments of gross specimen were used as golden standard to validate the feasibility and accuracy of assessment of 3DUS-US fusion imaging.The success rate of registration,duration time of fusion imaging,accuracy rate of assessment and measurement error in incomplete ablation group were recorded.Results All of the 16 phantom models were produced successfully.The success rate of registration was 100% and the duration time of 3DUS-US fusion imaging was(3.9±1.0)min.The accuracy rate of assessment was 100%.There was no significant difference between the assessment of residual tumor thickness in incomplete ablation group by 3DUS-US fusion imaging and gross specimen(t=-0.814,P =0.442),and the measurement error was(1.1±0.6) mm.Conclusions 3DUS-US fusion imaging based on electromagnetic positioning is a feasible,accurate and convenient method in the assessment of ablation zone of liver tumor.It would be a new immediate precise assessment method during ablation procedure for liver tumor.

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

Objective To investigate the safety and efficacy of ultrasound-guided thermal ablation in the treatment of rare liver tumors.Methods Clinical data of 9 patients with rare liver tumors who underwent ultrasound-guided thermal ablation from January 2012 to December 2016 in the Third Affiliated Hospital of Sun Yat-sen University were retrospectively analyzed.The informed consents of all patients were obtained and the local ethical committee approval was received.Among 9 cases (14 lesions),2 patients were male and 7 female,aged (42±12) years on average.All the patients underwent ultrasound or contrast-enhanced ultrasound-guided puncture and thermal ablation of the tumors.The ablation effect was evaluated immediately by contrast-enhanced ultrasound during the operation.The incidence of postoperative complications was observed.The complete ablation rate was evaluated by CT or MRI at postoperative 1 month.Results 11 lesions were treated with common ultrasound-guided thermal ablation and 3 lesions with contrast-enhanced ultrasound-guided ablation.The intraoperative complete ablation rate was 100％ (14/14),and the rate at postoperative 1 month was also 100％ (14/14).No ablation related complications was observed.During the follow-up,no local tumor progression or intrahepatic and extrahepatic tumors recurrence was observed in all patients.Conclusions For rare liver tumors,ultrasound-guided thermal ablation can achieve the effect of complete ablation,providing a new therapeutic option for the patients.

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood

Objective To understand the relationship between perinatal factors and congenital hypothyroidism(CH)and provide scientific evidence for the prevention of CH. Methods A case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH(control group)in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period. Results Univariate logistic regression analysis indicated that compared with control group,gestational hypertension,gestational diabetes mellitus,gestational thyroid disease and older age of mother were the risk factors to CH,the difference was statistically significant (P<0.05) and the risk of CH was higher in female babies,preterm babies,post-term babies low birth weight babies,macrosomia,twins,babies with birth defects and infection in cases group than those in control group,the difference was statistically significant (P<0.05). Multivariate logistic analysis showed that older age of mother(OR=2.518,95%CI:1.186-5.347), gestational diabetes mellitus(OR=1.904,95%CI:1.190-3.045),gestational hypothyroidism or hyperthyroidism(OR=12.883 and 30.797,95%CI:2.055-80.751 and 3.309-286.594),preterm birth (OR=4.238,95%CI:1.269-14.155),and post-term birth(OR=12.799,95%CI:1.257-130.327),low birth weight(OR=3.505,95%CI:1.059-11.601),macrosomia(OR=3.733,95%CI:1.415-9.851), twin or multiparous delivery(OR=5.493,95%CI:1.701-17.735),birth defects(OR=3.665,95%CI:1.604-8.371)and fetal distress(OR=3.130,95%CI:1.317-7.440)were the high risk factors to CH (P<0.05). Conclusion CH was correlated with mother’s age,gestational diabetes,gestational thyroid disease as well as neonate’s birth weight and gestational age,foetus number,fetal distress and other complicated birth defects at certain degree. More attention should be paid to perinatal care to reduce risk factors and the incidence of CH.