ABSTRACT
Objective@#To identify epidermal growth factor receptor (EGFR) mutations in lung adenocarcinoma based on 18 F-fluorodeoxyglucose (FDG) PET/CT radiomics and clinical features and to distinguish EGFR exon 19 deletion (19 del) and exon 21 L858R missense (21 L858R) mutations using FDG PET/CT radiomics. @*Materials and Methods@#We retrospectively analyzed 179 patients with lung adenocarcinoma. They were randomly assigned to training (n = 125) and testing (n = 54) cohorts in a 7:3 ratio. A total of 2632 radiomics features were extracted from the tumor region of interest from the PET (1316) and CT (1316) images. Six PET/CT radiomics features that remained after the feature selection step were used to calculate the radiomics model score (rad-score). Subsequently, a combined clinical and radiomics model was constructed based on sex, smoking history, tumor diameter, and rad-score. The performance of the combined model in identifying EGFR mutations was assessed using a receiver operating characteristic (ROC) curve. Furthermore, in a subsample of 99 patients, a PET/CT radiomics model for distinguishing 19 del and 21 L858R EGFR mutational subtypes was established, and its performance was evaluated. @*Results@#The area under the ROC curve (AUROC) and accuracy of the combined clinical and PET/CT radiomics models were 0.882 and 81.6%, respectively, in the training cohort and 0.837 and 74.1%, respectively, in the testing cohort. The AUROC and accuracy of the radiomics model for distinguishing between 19 del and 21 L858R EGFR mutational subtypes were 0.708 and 66.7%, respectively, in the training cohort and 0.652 and 56.7%, respectively, in the testing cohort. @*Conclusion@#The combined clinical and PET/CT radiomics model could identify the EGFR mutational status in lung adenocarcinoma with moderate accuracy. However, distinguishing between EGFR 19 del and 21 L858R mutational subtypes was more challenging using PET/CT radiomics.
ABSTRACT
Objective To evaluate the diagnostic value of treponema pallidum particle agglutination (TPPA) and toludine red unheated serum test (TRUST) for the therapeutic effects of early syphilis.Methods Syphilis patients visited the Dermatological Department of Beijing Tongren Hospital, Capital Medical University from January 2012 to October 2016 were recruited, including 189 patients with early syphilis and 39 patients without clinical symptoms but with risky behavior within 3 months.Serum samples were tested by TPPA and TRUST respectively before treatment and at month 3, 6, 12 after treatment.Comparison between groups was done by χ2 test.Results Serum TPPA results of 228 patients with early syphilis prior to the treatment and within 12 months after treatment were all positive.Before treatment, TRUST tests results of 225 patients were positive, and 156 patients turned negative after 12 months of treatment with the negative conversion rate of 69.3%.The TRUST titer ≤1∶4 before treatment was defined as low-titer group, and ≥1∶8 before treatment was defined as high-titer group.There were 93 patients in the low-titer group, including 3 patients with negative results, and 90 patients with titer 1∶1-1∶4.There were 135 patients in the high-titer group.Twenty-seven patients achieved TRUST negative conversion after 3 months of treatment, among which 19.35%(18/93) with the negative conversion rate in the low-titer group and 6.67%(9/135) in the high-titer group.The difference between the two groups was statistically significant (χ2=7.10, P0.05).Conclusion Serological tests combined with clinical signs can accurately diagnose early syphilis and evaluate the therapeutic effects.
ABSTRACT
Objective To estimate the prevalence of thyroid dysfunction and thyroid autoantibodies in adults with alopecia areata (AA), and to analyze the relationship between alopecia areata (AA) and thyroid autoimmunity in adults.Methods A predesigned questionnaire was used to collect data on demographic information, medical history,and family history of AA in first-degree relatives from patients with AA.Thyroid function was evaluated, and anti-thyroid peroxidase antibody (TPO-Ab) was screened in all the patieuts.Statistical analysis was carried out by the chi-square test and Fisher's exact test.Results Totally, 209 patients with AA were enrolled.Of these patients, 6.7％ were complicated by thyroid diseases, 20.6％ were positive for TPO-Ab.Compared with the patients without TPO-Ab, those with TPO-Ab showed a significant increase in the proportion of patients with early-onset (＜ 18 years) AA (x2 =5.589, P =0.025),prevalence rate of alopecia totalis/alopecia universalis (x2 =9.990, P=0.006) and thyroid diseases (x2 =12.279, P =0.002), and incidence rate of AA in first-degree relatives (x2 =14.426, P =0.001).Conclusions The positive rate of TPO-Ab is increased in patients with AA.It is recommended to evaluate thyroid function and to screen for thyroid autoantibodies in patients with AA despite of the absence of clinical manifestations of thyroid diseases.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between small ubiquitin-related modifier-1 (SUMO-1) gene rs6709162, rs7599810, rs7580433 polymorphism and non-syndromic oral clefting (NSOC).</p><p><b>METHODS</b>Our study consisted of 208 Ningxia NSOC patients, their parents (189 fathers and 176 mothers), 172 nuclear families (patients and their parents), and 284 normal controls. DNA was extracted and polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to identify rs6709162, rs7599810, rs7580433 genotypes of the samples. The data was analyzed by case-control analysis, family based associated test (FBAT), and transmission disequilibrium test (TDT).</p><p><b>RESULTS</b>Case-control study found that TT genotype's frequency was significantly different in cleft lip and cleft palate group compared with the control group at rs7599810 of SUMO-1 (P=0.01, P=0.01). TDT test showed that rs7599810's T allele had over-transmitted (P=0.00) in cleft lip and palate group. FBAT analysis revealed that distribution of rs7599810's TT genotype and T allele was significantly different (P=0.00, P=0.00). TDT test showed that rs6709162's C allele in cleft palate and cleft lip and palate patients had over-transmitted (P=0.00, P=0.01). rs7580433's G allele in cleft lip group had over-transmitted (P=0.05).</p><p><b>CONCLUSION</b>SUMO-1 gene polymorphism is associated with NSOC.</p>
Subject(s)
Female , Humans , Male , Case-Control Studies , Cerebellar Ataxia , Cleft Lip , Cleft Palate , Genotype , Intellectual Disability , Polymerase Chain Reaction , Polymorphism, Genetic , SUMO-1 Protein , Genetics , UbiquitinsABSTRACT
Objective To evaluate the microstructural integrity of white matter (WM) in patients with amnestic mild cognitive impairment (aMCI) and mild Alzheimer's disease (AD) using voxel-based analysis (VBA), and investigate the relationship between WM abnormalities and gray matter(GM) atrophy.Methods Thirty-three cases with aMCI, 32 cases with mild AD and 31 normal aging volunteers as control subjects were scanned on a 3.0 T MR system using diffusion tensor imaging (DTI) and three-dimensional spoiled gradient-recalled(3DSPGR) sequences. Fractional anisotropy (FA) maps and morphological images were preprocessed by SPM5 and voxel-based comparisons between the 2 patient groups and the control group were performed by t test. Results Relative to the control group, patients with aMCI showed significantly reduced FA value in bilateral frontal, temporal and left occipital WM, left anterior part of cingulum, left inferior parietal lobule, and the W M adjacent to the triangular part of the right lateral ventricle(k≥20 voxels).In mild AD,significantly reduced FA value was found in bilateral hippocampal,inferior parietal lobular,frontal,temporal,and occipital WM,bilateral corpus callosum,anterior part of cingulums,the WM adjacent to the triaangular part of the bilateral lateral ventricles,left temporal stem,left thalamus,right precuneus(k≥20 voxels).Significantly reduced GM volume was found in left hippocampus,parahippocampal gyrus,lingual gyrus and superior temporal gyrus,bilateral insulae and middle temporal gyri in aMCl group whencompared with control group(k≥50 voxels).In mild AD,significantly reduced GM volume was found in bilateral hippoeampi,parahippocampal gyri,amygdalae,thalami,temporal,parietal,frontal,occipital cortex(k≥50 voxels).The pattern of areas with reduced FA differs;from that of the GM volumetric reduction.No areas with significantlv reduced FA was detected in aMCl compared with mild AD. There was no significant correlation between FA value of WM in patient groups and Mini-Mental State Examination(MMSE)scores.Conclusions Voxel-based MRI DTI analysis of whole brain white matter can objectively reveal widespread white matter abnormalities in early-stage AD.The difierence between WM FA reduction pattern and GM volumetric reduction pattern indicates that the pathological WM changes in earlyslage AD were caused by multiple mechanisms. FA did not vary significantly in patients pr0gressing from aMCI to mild AD and can hardly reflect the severitv of cognitive function damage in these patients.
ABSTRACT
Objective:To study the association between the rs2013162 and rs2235375 polymorphisms in IRF6 and risk of NSCL/P in west Chinese population. Methods: The study group consisted of 332 NSCL/P patients, their parents (289 mothers, 243 fathers and 206 complete families), and 174 controls. PCR-RFLP method was used to identify genotypes and both case-parent and case-control designs were carried out on samples from west China. Results: There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at the rs2235375(P<0.01, P<0.01 respectively). We found strong evidence of over-transmission of the G allele at rs2235375 in cleft case-parent trios(P<0.01). Five specific haplotypes showed significant over-and under-transmission. Conclusion: These results suggest IRF6 variants play a role in NSCL/P in west Chinese populations.
ABSTRACT
Total 52 patients with breast lesions underwent dynamic contrast-enhanced breast MRI; and the breast vascularization was scored on the MRI vascular maps with a range of 0 to 3. The mean number of vessels per ipsilateral breast in malignant cases was higher than that of benign cases (3.8±2.0 vs. 1.3± 1.0; P=0.000). When the breast vascularity score 0-1 was defined as benign and 2-3 was defined as malignant, the sensitivity and specificity was 79% and 83%, respectively. Results indicate that dynamic contrast-enhanced breast MRI is of value in diagnosis of malignant breast lesions.
ABSTRACT
Objective:To evaluate the effectiveness of individual operative design for unilateral cleft lip repair.Methods:Individual operation design was applied for the repair of unilateral cleft lip in 40 cases.The operations were conducted according the designs and the secondary nasal deformities were corrected at the same time.One week after operation,dermal sutures were removed,the effects were evaluated by 3 professional doctors.7 labial morphometric lines were measured.The ratio of the line length on healthy side to the correspondence on the cleft side(RLL)were calculated for objective evaluation.Results:First intention was found in all cases,the labial bow of both sides was symmetried after operation.In dynamic state and static state,the effects of the operations were satisfactory.RLL of 0.91-1.10 of the 7 lines was observed in 67.5%-95.0% of the patients.Conclusion:The individual operation design is feasible for unilateral cleft lip repair.
ABSTRACT
Objective:To explore the therapeutic efficacy of a new access to internal rigid fixation for mandibular condylar fracture. Methods: 7 patients with 9 unilateral mandibular condylar fractures were treated with preauricular beeline incisions. The two trunks of facial nerve were dissected and separated along the surface of the superficial temporal veins. Mandibular ramus periosteum was dissected. The fracture segments were reduced and fixed under sufficient exposure. Results: This operation access provided a sufficient exposure and was convenient for reduction and fixation. All the patients recovered effectively.Conclusion: This surgical approach is one of the feasible methods for reduction and fixation of mandibular condylar fracture.