Correlation of fetal cervical cystic hygroma with chromosomal and structural abnormalities: analysis of 70 cases / 中华围产医学杂志

Objective:To analyze the correlation of fetal cervical cystic hygroma (CCH) with chromosomal and structural abnormalities and to assess the prognosis of CCH.Methods:This study retrospectively enrolled 70 fetuses with CCH diagnosed by prenatal ultrasound in the First Affiliated Hospital of Xi'an Jiao Tong University from July 2015, to December 2021. According to whether complicated by structural malformations or other anomalies, all the subjects were divided into the non-isolated and isolated CCH groups. The correlation of CCH and the gestational age at detection with chromosomal and structural abnormalities were analyzed and the prognosis of the cases were summarized using Chi-square test. Results:There were 34 isolated CCH (34/70, 49%) and 36 non-isolated CCH (36/70, 51%) among the 70 cases. In the non-isolated CCH group, there were eight cases (22%, 8/36) with abnormal heart structure, ten (28%, 10/36) with abnormal anterior abdominal wall, 16 (44%,16/36) with systemic edema and/or pleural effusion, one (3%,1/36) with craniocerebral abnormalities and one with holoprosencephaly and cardiac structural abnormalities. Eighteen out of 44 cases undergoing chromosome testing had chromosomal abnormalities, which were trisomy-18 ( n=6), trisomy-21 ( n=3), trisomy-13 ( n=3), 45,XO ( n=3), and chromosome segment duplication or deletion ( n=3). The detection rate of chromosome abnormality was higher in non-isolated CCH group comparing with isolated CCH group [59%(13/22) vs 23%(5/22), χ2=6.02, P=0.014]. There was no significant difference in the gestational age at the detection of CCH or proportion of women of advanced maternal age between the isolated and non-isolated CCH groups (both P>0.05). The ratios of isolated CCH cases with normal chromosome detected at the gestational weeks of 14-27 +6 was higher than those detected at 11-13 +6 weeks [62%(13/21) vs 17%(4/23), χ2=7.39, P=0.001]. Out of the 17 cases with isolated CCH and normal chromosomes, 12 were live births. One of the 12 cases still had a cystic mass with a diameter of 3 cm in the neck nine months after birth, and the other 11 cases had no mass at birth but one case died at the age of five months (hospitalized one week for neonatal edema),one case was found with anal atresia three days after birth and underwent operation and the remaining nine cases were normal during five months to six years follow-up. Conclusions:Non-isolated CCH is at a higher risk of chromosomal abnormalities. Isolated CCH cases detected later had higher rate of normal chromosome and often have a higher survival rate.

Effects of erlotinib on histopathology and ultrastructure of corneal epithelium in mice / 眼科新进展

Objective To investigate the histopathological and ultrastructural changes of corneal epithelium induced by erlotinib in mice.Methods Totally 30 6-8 weeks old male BALB/c mice were divided into three groups:Control group (n =12),experimental group (n =12),another 6 mice did nothing as the blank control.Experimental group used erlotinib eye drops and control group used PBS in both eyes,four times per day.At 1 day,7 days and 14 days after the intervention,corneal fluorescence staining (FL) was observed by slit lamp and graded.On the fourteenth day after the intervention,the eye balls of mice were taken,and the histopathological and ultrastructural changes of corneal epithelium and epithelial cells were observed by optical microscope and electron microscope,respectively.And protein of cornea was measured by Western Blot.Results Before the intervention,there was no significant difference in FL scores between the experimental group and control group (P ＞ 0.05).At 1 day,7 days and 14 days,FL score of experimental group was significantly higher than the groups of non-intervention,the difference was statistically significant (all P ＜ 0.05).While FL score of control group was not statistically significant before and after intervention (all P ＞ 0.05);Compared between two groups,there were statistical differences at 7 days,14 days in FL score (all P ＜ 0.05).In the experimental group,the histopathological changes of murine corneal epithelial cells had disorderly arrangement,increased layers of cells,and the inflammatory cells.Under electron microscope,the morphology of corneal epithelial surface cells was irregular and partially detached.The number of microvilli,desmosomes and hemidesmosomes were significantly decreased when compared to the control group.The expression of p-EGFR in experimental group was significantly less than that in control group,the difference was statistically significant (P ＜ 0.05).Conclusion Erlotinib can damage the tissue structure of corneal epithelium and ultrastructure of corneal epithelial cells in mice.And the mechanism is probably that erlotinib influence the corneal epithelium by inhibiting the EGFR activation.

Diagnosis of primary tracheobronchial amyloidosis by multiplanar reconstruction of the computed tomography combined with bronchoscope / 中南大学学报(医学版)

OBJECTIVE@#To summarize the specific CT characteristics and the endoscopic findings of primary tracheobronchial amyloidosis (PTBA) for improvement of the diagnostic accuracy.
@*METHODS@#The imaging features of 6 patients with PTBA were analyzed by multiplanar reconstructed CT and the fiberoptic bronchoscope, and the pathology were summarized retrospectively.
@*RESULTS@#All PTBA patients received bronchoscopic examination and the definite diagnosis were confirmed by positive staining with Congo red. PTBA presented diffuse thickening of major airway and lumen stenosis in various degrees with scattered hemorrhage of the mucous membrane under CT and bronchoscope, which was more obvious in low part of trachea, main bronchus and lobar bronchus. The mucosa of trachea and bilateral main bronchi were irregular and bumpy with jutting nodes in 5 patients, which was called "wavy path" pattern. Widely nodular or stripy calcifications of airway were found in 4 patients, which was considered as specific imaging features in PTBA and was involved bilateral main bronchi largely. There were obstructive atelectasis in 2 patients, and calcifications of hilus of lung with longitudinal diaphragm lymph nodes in 3 patients, but they were not specific. Ignoring the extensive circumferential thickening of large airway, "wavy path sign" and rail-like calcification was mainly responsible for misdiagnosis of PTBA as endobronchial tuberculosis or other diseases.
@*CONCLUSION@#Attentions to the specific imaging features on multiplanar CT and the endoscopic findings are the fundamentals to avoid the misdiagnosis of PTBA.

Expression and significance of N-myc downstream regulated gene 1 in renal cell carcinoma / 肿瘤研究与临床

Objective To study the expression of N-myc downstream regulated gene 1 (NDRG1) in renal cell carcinoma and its relationship with microvessel density (MVD) and clinicopathologic parameters.Methods Immunohistochemical study for NDRG1 and CD34 was performed on paraffin sections of cases of renal cell carcinoma and adjacent non-neoplastic renal parenchymal tissue. MVD was analyzed by CD34immunostaining.Results Immunohistochemical study showed that non-neoplastic proximal convoluted tubule, distal convoluted tubule and collecting ducts was positive for NDRG1 (membranous and cytoplasmic). The expression rate of NDRG1 in renal cell cancer was 51%, which was significantly lower than that in normal renal tissues of 100 % (P ＜0.05).Clinicpathologically, the result also showed a close relation between lower NDRG1 expression and higher pathologic grade (χ2 =9.968, P =0.007), later clinic stage (χ2= 6.437,P =0.011), lymph node metastases (χ2=5.800, P =0.016) and higher MVD of cancer (t =2.235, P =0.030)whereas no relation with other factors. Conclusion NDRG1 might play as a cancer suppressor gene in renal cell carcinoma in that it could be correlated with tumor invasion and metastasis.It might also suppress tumor growth and metastasis by regulation of tumor angiogenesis.