Purpose To explore the methods of selectively visualizing hepatic portal vein by using three-dimensional fast imaging employing steady state acquisition combined with in-flow inversion recovery labeling pulse at 3.0 Tesla. Materials and Methods Ten healthy volunteers were examined under different TI (1200, 1400, 1600, 1800 ms), and the vessel-to-liver contrast ratio of the main portal vein, right portal vein, and left portal vein were measured. Results Non-contrast-enhanced MRA images of portal vein were obtained successfully in all ten volunteers. The signal intensity of peripheral portal branches gradually increased when TI increased from 1200 ms to 1600 ms, and the highest vessel-to-liver contrast ratio occurred when TI was 1400 ms. Conclusion Non-contrast enhanced magnetic resonance angiography of the hepatic portal vein can be successfully achieved at 3.0T high field MRI. A fixed TI of 1400 ms is preferable.

Congenital cataract is one of the important reasons for the blindness of children,and most congenital cataracts are genetic.At present,thirty-nine genes have been identified relating to autosomal dominant congenital cataract (ADCC).Objective This study was to identify and analyze the virulence gene of a Chinese family pedigree with ADCC by whole-exome sequencing.Methods A Chinese ADCC family was recruited in Affiliated First Hospital of Zhengzhou University from August to September in 2014.The family disease history and clinical data were recorded.The peripheral venous blood of 10 ml was collected in 14 patients with congenital cataract and 14 families with normal phenotype,and the peripheral blood samples were obtained from 100 healthy examined people as controls.The genomic DNA was extracted form all subjects using standard phenol chlorum method,and proband DNA was screened by whole-exome sequencing.Then mutation locus of the candidate gene was selected after compared with the information of database in the proband.The mutation locus of the candidate gene from 14 normal families and 100 healthy controls were amplified and sequenced by PCR technique based on the primer sequence of mutation locus of proband to verify the pathogenic gene of this ADCC family.This study protocol was approved by Ethic Committee of Affiliated First Hospital of Zhengzhou University and complied with Helsinki Declaration.Written informed consent was obtained from subjects or custodian before any medical examination.Results The family had a total of 5 generations of 68 members,in which 20 subjects were found with congenital cataract.The inheritance mode consisted with autosomal dominant inheritance.Cortical cataract was found in both eyes in the patients.Whole-exome sequencing showed that the 143rd ribonucleotide A of exon 2 explicit factor of chromosome 13 GJA3 gene mutated into G (c.143A＞G) in the proband,which resulted in the 48th amino acids changed from glutamate into glycine (p.E48G).PCR amplification product sequencing displayed that the same mutation of DNA appeared in all the patients of this family,while not the same mutation was seen in the candidate genes of normal phenotype families and 100 healthy controls.Conclusions GJA3 gene c.143A＞G is a virulence mutation site in this ADCC family,it is a supplement of the mutation spectrum of GJA3 gene.

Objective:To explore the effect of knockdown of the homeobox gene paired-box 6 ( Pax6) on the biological behavior and epithelial-mesenchymal transition (EMT) of human lens epithelial cells (LECs). Methods:The SRA01/04 human LECs were divided into small interfering RNA-Pax6 (siRNA-Pax6) group transfected with siRNA-Pax6 and siRNA negative control (siRNA-NC) group transfected with disordered siRNA.Cell survival rate was detected by cell counting kit-8 method at 24, 48 and 72 hours after transfection.Cell cycle distribution and apoptosis were analyzed by flow cytometry at 48 hours after transfection.Migratory capability of cells was examined by cell scratch test at 24 hours after transfection.The mRNA relative expression levels of Pax6, α-crystallin A (CRYAA), α-crystallin B (CRYAB), Sox2, α-smooth muscle actin (α-SMA) and E-cadherin were detected by quantitative real-time PCR at 48 hours after transfection.The relative expression of Pax6 protein was detected by Western blot at 48 hours after transfection.Results:There was a significant difference in cell survival rates at different time points between the two groups ( Fgroup=4.776, P<0.05; Ftime=13.535, P<0.05). The cell survival rate of siRNA-Pax6 group was obviously lower than that of siRNA-NC group at 48 and 72 hours after transfection, and the differences were statistically significant (both at P<0.05). Compared with siRNA-NC group, the proportion of cells in G 0/G 1 phase was significantly increased and the proportion of cells in S phase was significantly reduced in siRNA-Pax6 group ( t=9.971, -5.063; both at P<0.05). The cell migration rate of siRNA-Pax6 group was (19.73±6.07)%, which was lower than (70.56±2.97)% of siRNA-NC group, showing a statistically significant difference ( t=-7.245, P<0.05). The relative expressions of Sox2 mRNA and α-SMA mRNA were lower, and the relative expression of E-cadherin mRNA was higher in siRNA-Pax6 group than siRNA-NC group, with statistically significant differences between them ( t=-23.254, -5.294, 6.062; all at P<0.01). The relative expression of CRYAA mRNA and CRYAB mRNA was significantly higher in siRNA-Pax6 group than siRNA-NC group, and the differences were statistically significant ( t=5.521, 8.270; both at P<0.01). The relative expressions of Pax6 mRNA and protein in siRNA-Pax6 group were 0.27±0.01 and 0.24±0.05, respectively, which were both lower than 1.00±0.05 and 1.14±0.10 in siRNA-NC group, showing statistically significant differences ( t=-14.456, -4.458; both at P<0.001). Conclusions:Silence of Pax6 can suppress the proliferation and EMT of human LECs and enhance the expression of crystallin.

Objective ToinvestigatethevalueofDWIhyperintensityinvenoussinusindiagnosisandrecanalizationpredictionof cerebralvenoussinusthrombosis(CVST).Methods Clinicaland MRIdataof19patientswithCVST wereanalyzedretrospectively. BasedonDWIsignalcharacteristicsoftheCVST,thepatientsweredividedintoasthehyperintensegroupandthenon-hyperintense group.TheintervaltimebetweenthefirstMRIexaminationandtheonset,andtherecanalizationratewithin1 monthand3 months werecomparedbetweenthetwogroups.Results Therewere76 CVSTinthe19patients,withhyperintensein16venoussinus (21%)andin11patients(57.9%).Theintervaltimewaslongerinthehypertensegroupthanthenon-hypertensegroupbutnosta-tisticalsignificance[(12.81±11.10)daysversus(5.70±7.82)days,P=0.165].17patientsunderwentthesecond MRIexamination in1month,andtherecanalizationrateoftheobstructedsinuswaslowerinthehypertensegroupthanthenon-hypertensegroupwith nostatisticalsignificance(P=0.130).14patientsunderwenttheMRIexaminationafter3 months,andtherecanalizationrateofthe obstructedsinuswaslowerinthehypertensegroupthanthenon-hypertensegroupwithstatisticalsignificance(P=0.047).Conclu-sion ThehypertenseonDWIhashighsensitivityforthedetectionofsubacuteCVST.Thepresenceofhypertenseinoccludedsinus onDWIhasthepredictivevalueforvesselrecanalization.

Objective To investigate the atypical MRI manifestations in patients with primary central nervous system lymphoma(PCNSL). Methods The clinical and MRI manifestations of 17 patients with pathologically confirmed atypical PCNSL in the First Affiliated Hospital of Henan University of Science and Technology (from May 2011 to Dec 2016) and Nanfang Hospital (from Sep 2003 to May 2009) were analyzed retrospectively in this study. Both conventional and contrast-enhanced MR images were acquired for each patient. The MRI manifestations including the number, location, size, shape, signal intensity, enhancement patterns of lesions were evaluated by two senior radiologists.Results Of the 17 cases,8 were solitary and 9 were multiple.Two types of atypical MR findings were found:(1)Atypical location:For the 9 patients showed atypical location,7 patients had solitary masses which were located in the brainstem(n=3), the supratentorial superficial parts(n=2), the cerebellum(n=1)and the sella(n=1). Two patients had multiple lesions, showing multiple subependymal nodules and no abnormalities in the brain parenchyma. Six of the 7 solitary lesions and the 2 multiple cases showed isointense or hypointense on T1-weighted scans and isointense or hyperintense on T2-weighted scans as well as significant homogenous enhancement on contrast-enhanced T1-weighted scans.(2)Atypical signal features:Ten cases were found with atypical signal features including:①Patchy lesions were observed in 6 patients( one patient with single lesion, and five patients with multiple lesions),appearing as hyperintense spots on T2-weighted image and subtle hypointense on T1-Weighted image. Corresponding contrast-enhanced T1-weighted MR image showed multiple patchy/linear enhancement. ②Two cases showed diffuse supratentorial periventricular and infra-tentorial white matter T2hyperintensity and absence of contrast enhancement. ③Nodular lesions with inhomogeneous internal signals were found in 2 cases with calcification(n=1) and cystic necrosis (n=1, ring-like enhancement).Conclusions The atypical imaging manifestations of PCNSL could lead to misdiagnosis or delay in the diagnosis.It is important to understand its atypical imaging features and combine with clinical manifestations to improve the accuracy of differential diagnosis of intracranial lesions.

AIM:To investigate the value of optical coherence tomography angiography(OCTA)indicators in the diagnosis of diabetic retinopathy(DR), and to provide patients with diabetic nephropathy(DN)with more sensitive OCTA screening indicators to detect concurrent DR at an early stage.METHODS: A total of 200 patients who treated in the ophthalmology department of the Seventh Affiliated Hospital, Sun Yat-sen University from 2022 to 2023 were included, including 95 first-diagnosed DR patients and 105 patients without DR, and all patients underwent OCTA examination and a collection of demographics and renal function parameters. After a quality check, automated measurements of the foveal avascular zone area, vessel density(VD), and perfusion density(PD)of both 3 mm×3 mm and 6 mm×6 mm windows were obtained.RESULTS: Using random forest and multivariate Logistic regression methods, we developed a diagnostic model for DR based on 12 variables(age, FBG, SBP, DBP, HbA1c, ALT, ALP, urea/Scr, DM duration, HUA, DN, and CMT). Adding specific OCTA parameters enhanced the efficacy of the existing diagnostic model for DR(outer vessel density in 6 mm×6 mm window, AUC=0.837 vs 0.819, P=0.03). In the study of DN patients, the parameters in the 6 mm×6 mm window improved the diagnostic efficacy of DR(inner VD; outer VD; full VD; outer PD; full PD).CONCLUSION:The outer VD in the 6 mm×6 mm window can enhance the efficacy of the traditional DR diagnostic model. Meanwhile, compared with the 3 mm×3 mm window, the microvascular parameters in the 6 mm× 6 mm window focusing on DN patients can be more sensitive to diagnosing the occurrence of DR.