T-6 specific IFN-γ ELISPOT has higher specificity, sensitivity, the positive and negative predicative value. Therefore, the ELISPOT warrant for further improvement and clinical application.

OBJECTIVETo detect SCN4A gene mutation in a pedigree with paramyotonia congenita in order to facilitate genetic counseling and assisted reproduction.

METHODSClinical data of the family was collected. DNA was extracted from peripheral blood samples. Potential mutation of the SCN4A gene was screened using PCR-Sanger sequencing. Potential mutation was detected in 3 affected relatives, 4 unaffected relatives and 100 unrelated healthy controls. Bioinformatics software was used to predict the effect of mutation on the protein function and conservation of the sequence at the mutation site across various species.

RESULTSA novel missense mutation c.4427T>C (p.Met1476Thr) was detected in the exon 24 of the SCN4A gene in the proband and other 3 affected relatives, but not in 4 unaffected relatives and 100 unrelated controls. Bioinformatic analysis indicated that the codon is highly conserved across various species, and that the mutation has caused damage to the structure and function of SCN4A protein.

CONCLUSIONThe c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene may contribute to the paramyotonia congenita. Detection of SCN4A gene mutation is an effective method for the diagnosis of paramyotonic congenita.

Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Exons ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Myotonic Disorders ; genetics ; NAV1.4 Voltage-Gated Sodium Channel ; genetics ; Pedigree ; Point Mutation ; Sequence Alignment

OBJECTIVETo study the prediction performance evaluation with five kinds of bioinformatics software (SIFT, PolyPhen2, MutationTaster, Provean, MutationAssessor).

METHODSFrom own database for genetic mutations collected over the past five years, Chinese literature database, Human Gene Mutation Database, and dbSNP, 121 missense mutations confirmed by functional studies, and 121 missense mutations suspected to be pathogenic by pedigree analysis were used as positive gold standard, while 242 missense mutations with minor allele frequency (MAF)>5% in dominant hereditary diseases were used as negative gold standard. The selected mutations were predicted with the five software. Based on the results, the performance of the five software was evaluated for their sensitivity, specificity, positive predict value, false positive rate, negative predict value, false negative rate, false discovery rate, accuracy, and receiver operating characteristic curve (ROC).

RESULTSIn terms of sensitivity, negative predictive value and false negative rate, the rank was MutationTaster, PolyPhen2, Provean, SIFT, and MutationAssessor. For specificity and false positive rate, the rank was MutationTaster, Provean, MutationAssessor, SIFT, and PolyPhen2. For positive predict value and false discovery rate, the rank was MutationTaster, Provean, MutationAssessor, PolyPhen2, and SIFT. For area under the ROC curve (AUC) and accuracy, the rank was MutationTaster, Provean, PolyPhen2, MutationAssessor, and SIFT.

CONCLUSIONThe prediction performance of software may be different when using different parameters. Among the five software, MutationTaster has the best prediction performance.

Computational Biology ; methods ; DNA Mutational Analysis ; methods ; Gene Frequency ; Humans ; Mutation, Missense ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Reproducibility of Results ; Software

Objective The study aimed to compare the diagnostic efficacy of QuantiFERON-TB Gold(QFT-TB)detection of specific cellular immune IGRAs in tuberculosis diagnostic laboratory for pulmonary tuberculosis,extrapulmonary tuberculosis and special population samples in vitro,which may provide evidence for clinical diagnosis and treatment.Methods A total of 546 patients with tuberculosis(AFB + 146 cases,AFB-247 cases),117 patients with molecular biology positive tuberculosis(Xpert 69 cases,TB-DNA 48 cases)and 36 patients with histopathological positive were collected from January to July 2023.There were 72 cases of extrapulmonary tuberculosis,276 cases of pleural effusion and 25 cases of ascites.QFT-TB method was used for detection,chi-square test was applied for com-parison between groups,and the methodological evaluation of positive rate and coincidence rate were all compared.Results The positive rates of QFT-TB in pulmonary tuberculosis,extrapulmonary tuberculosis and close contacts were 83.69%,69.44%,and 32.41%,respectively.The coincidence rates of QFT-TB in AFB +,GeneXpert,TB-DNA and pathological confirmed tuberculosis patients were 91.09%,88.40%,81.25%,and 72.22%,respectively.The positive rate of pleural effusion in patients with tuberculous pleurisy was 60.50%,and the uncertainty rate was 29.71%.The positive rate of ascites was 44.00%and the uncertainty was 36.00%.Conclusion QFT-TB test has good value in the auxiliary diagnosis of pulmonary tuberculosis,and has certain reference significance for the diagnosis of extrapulmonary tuberculosis based on the detection of pleural fluids and ascites.

Objective: To evaluate the value of preoperative diagnosis of extramural vascular invasion (EMVI) of rectal cancer with 3.0T high-resolution magnetic resonance imaging (MRI) and the MRI-related factors of EMVI in rectal cancer. Methods: The clinical and imaging data of 40 patients with rectal cancer were retrospectively analyzed. The postoperative pathological diagnosis was used as the gold standard to evaluate the diagnostic efficacy of preoperative diagnosis of EMVI of rectal cancer by high-resolution MRI, and to analyze the relationship between the EMVI and clinical and MRI features. Results: Of the 40 patients, 19 cases were diagnosed as positive EMVI and 21 were negative by MRI. Pathological diagnosis of EMVI was positive in 10 cases and negative in 30 cases. The sensitivity, specificity and accuracy of MRI in the diagnosis of EMVI were 100%, 70.0% and 77.5%, respectively. Preoperative MRI and postoperative pathology were moderately consistent in the diagnosis of EMVI in rectal cancer (Kappa=0.538, P<0.001). Pathological EMVI positivity were related to tumor size under MRI examination (P=0.028), degree of differentiation (P<0.001), depth of invasion (P=0.002), lymph node metastasis (P=0.001), liver metastasis (P=0.011), tumor apparent diffusion coefficient (ADC) value (P=0.010) and exponential apparent diffusion coefficient (eADC) value (P=0.003). It also related to extramural nerve invasion by pathological examination (P=0.005). Conclusion According to the EMVI imaging score of rectal cancer, preoperative MRI has a high value in the diagnosis of EMVI of rectal cancer.

Objective: To investigate the diagnostic value of whole liver CT perfusion imaging in the quantitative evaluation of hemodynamic changes before and after transcatheter arterial chemoembolization (TACE). Methods: Twenty-six patients with hepatocellular carcinoma underwent TACE therapies were recruited. Whole -liver computed tomographic perfusion imaging (CTPI) was performed 2~3 days before TACE and 1 month after TACE. We measured the following perfusion parameters: hepatic arterial perfusion (HAP), portal venous perfusion (PVP), total liver perfusion (TLP), hepatic arterial perfusion index (HAPI), and time-to-peak (TTP).The F-test, t-test and Rank sum test were used for statistical analysis. Results: A total of 34 HCC lesions were detected. According to the deposition of lipiodol after TACE, they were divided into a lipiodol dense group (21) and a lipiodol light group (13). The length of hepatocellular carcinoma lesions after TACE showed a decreasing trend compared with preoperative TACE. The lesions in the lipiodol dense group had smaller lesions than those in the lipiodol light group. The preoperative and postoperative longitudinal diameters were (3.12 ± 0.58) cm vs. (1.93 ± 0.79) cm, (2.98 ± 2.01) cm vs. (2.58 ± 2.00) cm, the differences were statistically significant (t = 15.1, 8.65, P < 0.05). The preoperative HAP and HPI of the lipiodol dense group were the highest, and the peritumoral within 1cm was higher than that of the surrounding liver parenchyma. The PVP, TLP, and TTP were highest in the surrounding of liver parenchyma, and 1 cm higher than the tumor area in the background. The corresponding perfusion parameters were statistically significant (P < 0.05); HAP and HPI were 1 cm higher than the surrounding liver parenchyma. After the operation, PVP, TLP and TTP were lower than the background liver parenchyma, the difference was statistically significant (P < 0.05); HAP and HPI decreased by 1 cm after the operation, and the PVP, TLP, and TTP increased. There was no significant difference after operation in the blood perfusion of background liver parenchyma (P ˃ 0.05). The HAP and HPI decreased, and the PVP and TTP increased in the lipiodol light group after operation (P < 0.05). There was no significant difference between the other two regions (P ˃ 0.05). Conclusion There was no blood perfusion in the lipiodol deposition area after TACE. The perfusion volume of hepatic artery in the peritumoral 1 cm and lipiodol light group decreased and the portal venous perfusion increased. CTPI can quantitatively evaluate blood perfusion state, which is of great significance for the determination of treatment plans before TACE treatment to assume the postoperative therapeutic effect in liver cancer.