1.Imaging manifestations of pulmonary mucosa-associated lymphoid tissue lymphoma
Journal of Practical Radiology 2014;(4):620-622
Objective To investigate the imaging characteristics of pulmonary mucosa-associated lymphoid tissue(MALT)lym-phoma,in order to improve the diagnosis of this disease.Methods X-ray and CT features of 1 9 cases of pulmonary MALT lympho-ma confirmed by operation or biopsy were retrospectively analyzed.Results Among 1 9 cases,there were 4 cases with a single nod-ule,2 cases with a single consolidation,5 cases with multiple consolidations,2 cases with a single patchy shadow,4 cases with patchy consolidations,1 case with multiple patchy shadows combined with irregular cavities,and 1 case with diffused interstitial changes.Grossus air bronchogram was found in 1 1 cases with nodules,consolidations and patchs.Irregular margin was found in 1 5 cases.Spiculation was found in 3 cases.Pleural retraction was found in 2 cases.Pleural effusion was found in 3 cases.Conclusion Pulmonary MALT lymphoma can be showed as solitary nodule,patchy shadow,consolidation,cavity and diffused interstitial change.Pulmonary MALT lymphoma should be considered if such lesions combined with grossus air bronchogram,irregular mar-gin,spiculation or plural retraction..
2.BrainactivityalterationsofParkinson’sdiseasepatientswithfreezingofgaitunderrestingGstatefunctionalMRI
Min WANG ; Jianwei WANG ; Kezhong ZHANG ; Yongsheng YUAN ; Kai ZHENG ; Weiben WU
Journal of Practical Radiology 2019;35(5):693-698
Objective ToinvestigatethepatternsofbrainactivityabnormalitiesinpatientswithParkinson’sdisease(PD)with freezingofgait(FOG),andtoexploretheneuropathologicalmechanismofFOG.Methods Resting-statefunctionalMRI(rs-fMRI) scanswereobtainedfrom31PDpatientsand16healthycontrols(HCs).Accordingtothefreezingofgaitquestionnaire(FOG-Q),31 PDpatientsweredividedinto15PDFOG(+)and16PDFOG(-).ANCOVAandPost-Hocttestwereperformedtoassessinter groupdifferenceofbrainactivityabnormalitybasedonregionalhomogeneity.Results ComparedtoHCs,PDFOG(+)showeddecreased ReHointheleftinferiortemporalgyrus,rightlingual,bilateralfusiform,rightoccipitalgyrus,rightcalcarine,andrightcerebellum, whileincreasedReHointherightmiddlefrontalgyrus,rightsuperiorfrontalgyrus,rightprecentralgyrus,andrightsupplementary motorarea(SMA).ComparedtoPDFOG(-),PDFOG(+)exhibitedincreasedReHointherightprecentralgyrus,rightmiddle frontalgyrus,rightinferiorfrontalgyrus,andrightSMA,whiledecreasedReHoinleftfusiform.Conclusion Thisstudysuggests thatFOGinPDisassociatedwithabnormalitiesincerebellum,frontallobeandvisualnetwork,whichishelpfultounderstandthe neuralmechanismsunderlyingFOGinPD.
3.Genetic analysis in 331 cases of neonatal hyperbilirubinemia with unknown etiology
Ribao LI ; Xia GU ; Guohao WU ; Zhirong DENG ; Jianquan KANG ; Zao LIANG ; Taohan MIAO ; Liuhong QU ; Zhonghe WAN ; Yongxue LU ; Jinyou DENG ; Dongjun LIU ; Wangkai LIU ; Weiben HUANG ; Xin XIAO ; Hu HAO ; Sitao LI
Chinese Journal of Neonatology 2022;37(6):520-524
Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.