Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a newborn with corneal opacity.@*METHODS@#The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).@*RESULTS@#No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.@*CONCLUSION@#The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.

Clinic diagnostic value of MSCT imaging features in nodular lung adenocarcinoma subtype / 国际肿瘤学杂志

Objective:To investigate the clinic diagnostic value of multi-slice CT (MSCT) imaging features in various subtypes of nodular lung adenocarcinoma.Methods:The imaging information and general clinical data of 160 patients with nodular lung adenocarcinoma who were admitted to Yantai Affiliated Hospital of Binzhou Medical University and received surgical treatment from January 2017 to May 2019 were retrospectively analyzed. Univariate analysis was used to screen statistically significant imaging features of each pathological subtype, and binary logistic regression analysis was performed. The diagnostic value was analyzed using the receiver operating characteristic (ROC) curve, the area under the curve (AUC) was calculated, and the diagnostic efficacy was compared.Results:The age of patients with atypical adenomatous hyperplasia and adenocarcinoma in situ (AAH+ AIS), minimally invasive ademocarcinoma (MIA), invasive adenocarcinoma cancer (IAC) and variant of invasive adenocarcinoma cancer (VIAC) were (57.07±7.92), (59.37±6.96), (60.68±8.83), (63.33±6.89) years old, with no statistically significant difference ( F=1.221, P=0.304). The age of patients with VIAC, IAC, MIA and AAH+ AIS decreased in turn. The imaging features of AAH+ AIS, MIA, IAC and VIAC that exhibited statistically significant differences were as following in turn: the maximum diameter of lesion [6.85 (3.73) mm vs. 8.00 (5.00) mm vs. 16.00 (11.90) mm vs. 17.20 (9.08) mm, H=55.107, P<0.001], CT value [-563.50 (176.63) HU vs. -536.00 (293.50) HU vs. -235.50 (346.50) HU vs. -23.00 (30.50) HU, H=47.499, P<0.001], solid ratio [0 (0) vs. 0 (0) vs. 49.00% (100.00%) vs. 100.00% (0), H=44.242, P<0.001], vacuolar sign [14 (87.50%) vs. 35 (100.00%) vs. 84 (81.55%) vs. 3 (50.00%), χ2=13.925, P=0.002], inflatable bronchus sign [1 (6.25%) vs. 2 (5.71%) vs. 36 (34.95%) vs. 2 (33.33%), χ2=16.578, P=0.001], intratumoral vascular sign [13 (81.25%) vs. 28 (80.00%) vs. 64 (62.14%) vs. 1 (16.67%), χ2=11.168, P=0.009], vessel convergence sign [1 (6.25%) vs. 3 (8.57%) vs. 66 (64.08%) vs. 6 (100.00%), χ2=54.232, P<0.001], short burr sign [3 (18.75%) vs. 11 (31.43%) vs. 77 (74.76%) vs. 6 (100.00%), χ2=36.218, P<0.001], lobulation sign [4 (25.00%) vs. 18 (51.43%) vs. 93 (90.29%) vs. 6 (100.00%), χ2=43.302, P<0.001], pleural traction sign [0 (0) vs. 6 (17.14%) vs. 70 (67.96%) vs. 5 (83.33%), χ2=50.794, P<0.001]. The maximum diameter of lesion ( OR=0.858, 95% CI: 0.754-0.977, P=0.021) and pleural traction sign ( OR=0.288, 95% CI: 0.084-0.993, P=0.049) were independent influencing factors of MIA. The maximum diameter of lesion ( OR=1.131, 95% CI: 1.030-1.241, P=0.010) and pleural traction sign ( OR=3.441, 95% CI: 1.279-9.254, P=0.014) were independent influencing factors of IAC. The optimum threshold of the maximum diameter of lesion in diagnosis of MIA was 11.05 mm, AUC was 0.798 (95% CI: 0.724-0.872) sensitivity was 68.00%, and specificity was 85.70%. The AUC of pleural traction sign in diagnosis of MIA was 0.714 (95% CI: 0.623-0.806). The diagnostic efficacy exhibited no statistically significant difference between the maximum diameter of lesion and pleural traction sign in diagnosis of MIA ( Z=1.838, P=0.066). The optimum threshold of the maximum diameter of lesion in diagnosis of IAC was 11.05 mm, AUC was 0.827 (95% CI: 0.759-0.895), sensitivity was 75.70%, and specificity was 78.90%. The AUC of pleural traction sign in diagnosis of IAC was 0.743 (95% CI: 0.663-0.823). The diagnostic efficacy exhibited statistically significant difference between the maximum diameter of lesion and pleural traction sign in diagnosis of IAC ( Z=2.114, P=0.035), and the maximum diameter of lesion > 11.05 mm was better for the diagnosis of IAC. Conclusion:The maximum diameter of lesion and pleural traction sign are independent influence factors in diagnosis of MIA and IAC, and the maximum diameter of lesion > 11.05 mm is better for the diagnosis of IAC.

Diagnosis of multislice spiral CT in ureteral polyps / 实用放射学杂志

Objective To investigate the diagnostic value of multislice spiral CT (MSCT)in ureteral polyps by multi-phase enhanced scan. Methods Seven cases of ureteral polyps confirmed by operation and pathology were retrospectively analyzed,including 5 fibro-epithelial polyps and 2 inflammatory polyps.All of the patients underwent MSCT multi-phase enhanced scan.Thin slice reconstruction,three-dimensional post processing including maximum intensity projection (MIP),multi planar reconstruction (MPR)and volume reconstruction (VR) were performed for each phase data.Results The fibro-epithelial polyps were more common in the young men.Their longitudinal diameters were significantly greater than the transverse diameters.The shapes were cordal,papillary,or columnar.They were not enhanced obviously in the arterial phase,however,enhanced obviously in the delayed phase.Inflammatory polyps were more common in adults and all of them were accompanied with stones.Their longitudinal diameters were slightly greater than the transverse diameters,and the shape was spindle.The margins were unclear with cord changes.The upper and lower ureters showed extensive thickening of the wall.These polyps were significantly enhanced in the arterial phase and further strengthened in the delayed phase.Conclusion The morphology and dynamic enhancement characteristics of ureteral polyps can be displayed and clearly diagnosed by MSCT.

Mutation analysis of thyroid peroxidase gene in 20 Chinese patients with congenital hypothyroidism / 中华内分泌代谢杂志

Thyroid peroxidase(TPO) gene was detected in 20 patients with congenital hypothyroidism. An insertion c. 2268insT of TPO gene was found in one of them, and c. 2268insT combined with c. 1477G＞C mutation in another. TPO gene mutation may be related to pathogenesis of congenital hypothyroidism in Chinese.