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Objective:To investigate the value of CT findings of childhood hepatoblastoma (HB) in predicting preoperative tumor risk stratification.Methods:Totally 46 children with HB confirmed by surgery and pathology were retrospectively enrolled from October 2010 to October 2019 in Shenzhen Children′s Hospital and Xuzhou Children′s Hospital. The preoperative abdominal plain CT and three-phasic contrast-enhanced CT with complete clinical files were evaluated. According to the clinical risk stratification established by the multidisciplinary diagnosis and treatment consensus for children with HB, the HB children were divided into high-risk group and non-high-risk group with 16 and 30 cases respectively. The maximum diameter of tumor, relative tumor volume index, cystic change or necrosis, bleeding, calcification, fibrous septations, tumor rupture, liver capsule retraction and subcapsular effusion were evaluated. Enhancement percentage and enhancement index on arterial, venous and delayed phases of each tumor were measured and calculated. Pearson′s χ 2 test or Fisher′s exact test were used to compare the differences in gender and lesion morphological characteristics between the high-risk group and the non-high-risk group. Two independent sample t test or Mann-Whitney U test were used to compare the differences in age, gestational age, birth weight, α-fetoprotein, platelets, maximum diameter of tumor, relative tumor volume index and CT parameters of the lesion between the two groups. Statistically significant features were included in the binary logistic regression analysis and independent predictors related to high-risk group were obtained. The ROC curve was used to determine the critical value of the high-risk group. Results:There were statistically significant differences in age, maximum diameter of tumor, relative tumor volume index and tumor rupture between the high-risk group and the non-high-risk group (all P<0.05). The logistic regression analysis showed that the maximum diameter of tumor (OR=1.906, P=0.004) and tumor rupture (OR=16.558, P=0.005) were risk factors of the high-risk group. Based on ROC curve, the optimum cut-off point of maximum diameter of tumor to predict high-risk group was 10.5 cm. Tumor rupture, maximum diameter of tumor and maximum diameter of tumor combined with tumor rupture for predicting the incidence of high-risk group resulted in the area under the curve of 0.744, 0.807 and 0.879, respectively. The sensitivity and specificity of maximum diameter of tumor combined with tumor rupture were 75.0% and 96.7%, respectively. Conclusion:The age of onset in high-risk group is relatively older. The maximum diameter of tumor greater than 10.5 cm accompanied by tumor rupture can be regarded as a high-risk sign.
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<p><b>OBJECTIVE</b>To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.</p><p><b>METHODS</b>Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.</p><p><b>CONCLUSION</b>Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.</p>
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Child , Female , Humans , Male , Young Adult , Alcohol Oxidoreductases , Genetics , Base Sequence , Brain , Diagnostic Imaging , Brain Diseases, Metabolic, Inborn , Diagnostic Imaging , Genetics , Molecular Sequence Data , Mutation , Pedigree , RadiographyABSTRACT
Objective To investigate the value of combined 3D-constructive interference in steady state(3D-CISS) with phase-contrast MR(PC-MR) in diagnosis of hydrocephalus children.Methods We collected retrospectively 28 children with hydrocephalus who caused by obstructive membranes.They all underwent MR imaging examination with a 1.5 T consisting of 3D-CISS, conventional sequences and PC-MR.With the result of surgery and CT cisternography as gold standard,we analysised different sequence in the diagnosis of membranous obstruction.The results of obstructive were analysed by x2 test between 3D-CISS combined with PC-MR and conventional sequences.Results The study included 28 children, of whom 16 showed obstructive membranes in CSF pathways of ventricle and 12 displayed obstructive membranes in CSF pathways of cistern.Conventional sequences diagnosed obstructive membranes of 15 children, and obstructive membranes of 11 children were consistent with gold standard, and 4 cases were false positive.The 3D-CISS diagnosed obstructive membranes of 40, and 12 cases were false positive.There were significant difference between 3D-CISS combined with PC-MR and conventional sequence about obstructive membranes diagnosis of CSF pathways(x2=24.410, P=0.001).Conclusions Making use of jointing 3D-CISS sequence and PC-MR sequence successively, and we can diagnose the position of obstructive membrane for hydrocephalus, which can be helpful to select a perfect surgical approach.
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Objective To study MRI manifestations of cerebral developmental venous anomaly (DVA)and to analyze the diagnos-tic value of different sequences.Methods Conventional MRI and contrast enhancement 3D-T1 WI were performed in all 10 patients who were collected in our hospital.Among the 10 cases,6 patients underwent MRA and 4 patients underwent MRV.The diaplay of the draining veins and medullary veins were assessed.Results All 10 cases were sporadic lesion,the lesions of 9 cases were located in supra tentorium and which of 1 case was located in infra tentorium.Abnormal signals without characteristics of draining veins in 6 cases and dilated medullary veins in 4 cases were found in conventional MRI,while 6 draining veins showed flow void signal on T2 WI and 3 of the 4 medullary veins showed hypointensity on T1 WI and hyperintensity on T2 WI.Contrast enhancement 3D-T1 WI displayed the markedly enhanced draining veins and dilated medullary veins in all 10 cases of DVA.Numerous medullary veins gath-ered together into large draining veins radially and flowed into superficial or deeper veins,so-called“caput medusae”appearance were found as the characteristics in all cases.MRA and MRV revealed draining veins only partially but no medullary veins.Conclusion MRI could diagnose DVA clearly,the sensitivity of detecting DVA on conventional MRI is low and there are no characteristics ap-pearances.Contrast enhancement 3D-T1 WI is the most accurate and sensitive method,MRA and MRV are not highly worthwhile for diagnosing DVA.
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ObjectiveTo investigate the clinical and MRI features of multiple sclerosis in children,including the clinically isolated syndrome (CIS) and relapse.MethodsIn total,16 cases of pediatric multiple sclerosis were included in this study.Of them,11 patients were female and 5 were male,with the mean onset age of 10.1 years.They were followed up for 4 months to 7 years and found to have 1-5 relapses.The clinical manifestations of CIS and relapse were analyzed by a pediatric neurologist.An experienced neuroradiologist reviewed the MRI images of CIS and relapse.Information on the location,size,and pattern of the lesions was gathered.The location of lesions included subcortical,central,and periventricular white matter,cortex,deep gray matter,brain stem,and cerebellum.ResultsCIS episode presented acute onsets in 13/16 cases,with symptoms of cortice in 10 cases and visual impairment in 6 cases.Relapse occurred in 14/16 cases within one year.The incidence of symptoms of cortice was less frequent and severe in the second episode of MS,whereas the visual impairment had a high incidence.All patients had full recovery after the last episode.MRI of CIS showed confluent subcortical white matter lesions in 13/16 cases,abutting on central white matter lesions.The most frequently involved brain part was the frontal lobe,followed by the parietal lobe.Cortical involvement was observed in 9/16 cases.In 6 cases,periventricular white matter lesions were detected.Bilateral deep gray matter was abnormal in 4 cases.Other abnormalities included brain stem lesions in 5 cases,cerebellum lesions in 3 cases,optic nerve involvement in 3 cases,and pyramidal tract lesions in 2 cases.MRI of relapse revealed more small lesions in the subcortial and periventricular white matter in the patients.In the second episode,only 2 cases presented cortical involvement.Lesions were found in the brain stem in 4 cases and in the cerebellum in 5 cases.Pyramidal tract involvement was identified in 6 cases,serving as “railway track sign”.ConclusionsCIS in children is characterized by large confluent lesions in subcortical white matter coalescing with central white matter.MRI of relapse showed distinctive “railway track sign”.It is important to integrate MRI and clinical features in the diagnosis of pediatric multiple sclerosis.
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Objective To study the pathological foundations of enhanced MRI with superaramagnetic iron oxide(SPIO) and its diagnostic value in liver diseases.Methods 52 SD rats were divided into 2 groups in random,group A(n=40) bred with 2 ‰ diethylnitrosamine(DEN) to induce hepatocellular carcinoma(HCC),group B(n=12) as control group bred with water.6 rats and 2 rats in group A and group B were killed 6,8,11,14,17,20 week later,respectively,before that every SD rats underwent conventional plain and SPIO enhanced MRI examinations.All specimens were examined by HE staining and immunohistochemistry to test CD 68 with SP.Results The successful ratio of induced HCC was 90% and the mortality was 15%.The rats in group A could be divided into 4 stages,including hepatic fibrosis(HF),liver cirrhosis(LC),hyperplastic nodules and hepatocellular carcinoma(HCC).CD 68 positive cell in the normal control tissue(22.83?4.61/HP) was significantly more than that in LC(11.67?4.64/HP)(P
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The harm of SARS(severe acute respiratory syndrome) in 2003 is remarkable.Through analyzing the influencing factors of the infectious diseases in late 30 years,we find that the biological factors and social circumstance closely related the infectious diseases.The author suggests that we should build a general hygiene concept which aimed to improve social environment,and make effective public hygiene system the measure to prevent and control the infectious diseases.