Cyclic voltammetry shows that, in a supporting ele ctrolyte of NaOH,riboflavine tetrabutyrate（RT）has a pair of cathodic and anodi c peaks at Hg electrode. The peak potentials Epc=Epa=-0.64　 V（vs.Ag/Agcl）.　The adsorptive characteristics of RT are explored in detai ls with various methods.　The adsorbed species is most probably neutral molecule of RT.The saturated adsorption amount of RT at Hg electrode is 5.42×10-11 　mol/cm2 and every RT molecule occupied 3.06　nm2. On the surface of HMDE ，the adsorption of RT obeys Frumkin dasorption isotherm. The adsorptive coeffic ient β，the attractive factor γ are 4.60×105，1.10 and the adsorption free energy ΔG, is　－32.30　kJ/mol, respectively. The electrode proc ess kinetic behavior has also been studied by using cyclic voltammetry. Under th e experimental conditions the rate constants for electron transfer are determine d. The values of ks are in good agreement with literature′s results.

[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 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 effectiveness and safety of thermal ablation of patients with 3－5 cm hepatocellular carcinoma ( HCC ) under the assistance of ultrasound fusion imaging . Methods From December 2010 to December 2017 ,76 HCC patients with 78 medium‐size ( 3 －5 cm ) lesions who underwent radiofrequency ablation ( RFA ) or microwave ablation ( M WA ) were included in the study . Ultrasound fusion imaging was used to assist the ablation procedures and assess the technical success immediately ,then guided supplementary ablation . Contrast‐enhanced CT/M R was performed one month after ablation to assess the technique efficacy rate . T he complication ,local tumor progression ( L T P ) rate were followed up . Results According to the ultrasound fusion imaging evaluation ,24 lesions ( 30 .8% , 24/78) received supplementary ablation immediately during the ablation procedure . Seventy‐one of 78 liver tumors were evaluated to achieve 5 mm ablative margin while the other 7 liver tumors were not achieved . T here were no ablation‐related deaths ,and the major complication rate was 6 .6% ( 5/76 ) .T he technique efficacy rate was 100% ( 78/78) according to the contrast‐enhanced CT/M R one‐month later . Patients were followed up from 6 to 79 months with a median time of 22 months . L T P occurred in 4 lesions and the LT P rate was 5 .1% ( 4/78) . Conclusions With the assistance of ultrasound fusion imaging ,thermal ablation of medium‐sized HCC is effective and safe w hich could achieve a higher technique efficacy rate and a lower L T P rate .

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.

Objective:To investigate the effectiveness and safety of the coaxial needle technique in percutaneous liver biopsy for patients with coagulation function abnormalities.Methods:Clinical data of 210 patients who underwent percutaneous liver biopsy using the coaxial needle technique under ultrasound guidance from December 2018 to May 2021 in 3 centers were collected. A retrospective analysis was conducted to compare the puncture success rate, number of samples obtained, pathology qualification rate, intraoperative and postoperative bleeding rates between the group with coagulation function abnormalities and the group with normal coagulation function.Results:After propensity score matching, there were 105 patients in each group, with a puncture success rate of 100% in both groups. The pathology qualification rate was 100% for all samples.Intraoperative bleeding occurred in 78 cases (74.3%, 78/105) in the coagulation function abnormalities group and in 64 cases (61.0%, 64/105) in the normal coagulation function group, with a statistically significant difference between the two groups ( P=0.006). Postoperative bleeding occurred in 3 cases (2.9%, 3/105) in the coagulation function abnormalities group and in 0 case in the normal coagulation function group, with no statistically significant difference between the two groups ( P=0.081). Conclusions:The use of the coaxial needle technique for percutaneous liver biopsy in patients with coagulation function abnormalities not only allows for obtaining an adequate tissue sample but also demonstrates good safety.

Objective To evaluate the clinical application value of intra-biliary contrast-enhanced ultrasound (IB-CEUS) in the evaluation of degree of biliary obstruction.Methods Clinical data of 105 patients with biliary obstructive disease who were diagnosed and treated in the Third Affiliated Hospital of Sun Yat-sen University from January 2008 to December 2012 were retrospectively analyzed. The informed consents of all patients were obtained and the local ethical committee approval was received. There were74 males and 31 females with the age ranging from 30 to 88 years old and the median age of 55 years old. Conventional ultrasound (CUS) and IB-CEUS were used to detect the biliary obstructive lesions in 105 patients. X-ray or CT cholangiography was used as the gold standard for diagnosis. The diagnostic efficacy of two methods was compared. The differences between these two methods and the gold standard in diagnosing the degree of biliary obstruction were evaluated by McNemar test. The consistency of the Results was assessed by Kappa consistency.Results The diagnostic sensitivity and negative predictive value of two methods were 100％ in diagnosing the complete obstruction of primary and second grade intrahepatic bile ducts. The specificity, positive predictive value and accuracy of IB-CEUS in diagnosing the complete obstruction of primary grade intrahepatic bile ducts was respectively 95.8％, 91.9％ and 97.1％, higher than 57.7％, 53.1％ and 71.4％ of CUS. The specificity, positive predictive value and accuracy of IB-CEUS in diagnosing the complete obstruction of second grade intrahepatic bile ducts was respectively 97.3％, 83.3％ and 97.6％, higher than 58.6％, 24.6％ and 63.5％ of CUS. Significant difference was observed in the diagnosis between CUS and gold standard (χ2=28.033, 46.000; P<0.05). CUS was fair or poor for the consistency of Results in diagnosing the complete biliary obstruction of primary and second grade intrahepatic bile ducts (k=0.470, 0.252), while no significant difference was observed between IB-CEUS and gold standard (P=0.250) and the consistency of Results was good (k=0.936, 0.896).Conclusions IB-CEUS can accurately evaluate the degree of intrahepatic biliary obstruction. The efficacy of IB-CEUS is better than that of CUS, and it has a good diagnostic consistency with the gold standard.

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