Brain magnetic resonance imaging （MRI） of the elderly often reveals white matter changes （WMCs） with substantial variability across individuals. Our study was designed to explore MRI features and site-specific fac...Brain magnetic resonance imaging （MRI） of the elderly often reveals white matter changes （WMCs） with substantial variability across individuals. Our study was designed to explore MRI features and site-specific factors of ischemic WMCs. Clinical data of consecutive patients diagnosed with ischemic cerebral vascular disease who had undergone brain MRI were collected and analyzed. Multi-logistic regression analysis comparing patients with mild versus severe WMCs was performed to detect independent associations. Analyses of variance （ANOVAs） were used to detect regionally specific differences in lesions. We found that lesion distribution differed significantly across five cerebral areas, with lesions being predominant in the frontal lobe and parieto-occipital area. To explore WMCs risk factors, after adjusting for gender, diabetes mellitus, and hypertension, only age （P〈0.01）, creatinine （P=0.01）, alkaline phosphatase （ALP） （P=0.01） and low-density lipoprotein cholesterol （LDL-C） （P=0.03） were found to be independently associated with severe WMCs. Age （P〈0.001） was strongly associated with WMCs in the frontal lobe while hypertension was independently related to lesions in the basal ganglia （P=0.048） or infratentorial area （P=0.016）. In conclusion, MRI of WMCs showed that ischemic WMCs occurred mostly in the frontal lobe and parieto-occipital area. The infratentorial area was least affected by WMCs. Typically, age-related WMCs were observed in the frontal lobes, while hypertension-related WMCs tended to occur in the basal ganglia and infratentorial area.展开更多
Objective To explore brain MRI features of methylmalonic acidemia(MMA).Methods This observational study retrospectively analyzed the clinical and imaging data of 123 patients with MMA diagnosed at Shandong Provincial ...Objective To explore brain MRI features of methylmalonic acidemia(MMA).Methods This observational study retrospectively analyzed the clinical and imaging data of 123 patients with MMA diagnosed at Shandong Provincial Hospital Affiliated to Shandong First Medical University and Qilu Hospital of Shandong University from January 2010 to November 2022.The 123 patients were divided into 7 stages according to age of onset,neonatal period(0 to<1 month),infancy(1 month to<1 year),early childhood(1 to<4 years),preschool(4 to<7 years),school age(7 to<13 years),adolescent(13 to 17 years)and adult(>17 years).All patients underwent brain MRI scanning.The imaging performances were evaluated,including the number,location,morphology of the lesions.Results Of the 123 patients,40 were in the neonatal period,29 in infancy,13 in early childhood,9 in preschool,6 in school age,13 in adolescence,and 13 in adulthood.The first symptoms of patients in the neonatal period were mainly digestive system abnormalities,such as difficulty in breastfeeding(37.5%,15/40)and vomiting(25.0%,10/40),with neurological symptoms gradually becoming the main manifestations from infancy.Seventy-three cases(59.3%)showed significant abnormalities on cranial MRI,including 17 cases with 33 foci in the neonatal period,23 cases with 53 foci in infancy,11 cases with 16 foci in early childhood,2 cases with 2 foci in preschool,3 cases with 7 foci in school age,7 cases with 9 foci in adolescence,and 10 cases with 16 foci in adulthood.In neonatal period,the main manifestations were myelin dysplasia(18%,6/33),dilatation of the lateral ventricular system(18%,6/33),and pallidal bulb infarct foci(18%,6/33);in infancy,the main manifestations were hypoplasia or thinning of the corpus callosum(30%,16/53);in early childhood,the main manifestations were pallidal bulb infarct foci(38%,6/16);and the two MRI abnormalities in preschool were pallidum and thalamic infarct foci;in school age,the main manifestations were infarct foci in the chiasmatic nucleus(29%,2/7)and in the caudate nucleus(29%,2/7);in adolescence,the main manifestation was dilatation of the lateral ventricular system(33%,3/9);and in adulthood,the main manifestation was dilatation of the lateral ventricular system(19%,3/16).Conclusion By staging the age of onset,it is found that the imaging manifestations of MMApatients show significant differences with age,suggesting that there is a dynamic nature of MMA damage to brain structures at different developmental stages.展开更多
To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heteroge...To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heterogeneity,with most disease-causing mutations located within the conserved guanosine triphosphatase(GTPase)domains.[3]Intra-familial variability within the family has been observed.Consequently,comprehensive genotype–phenotype studies of CMT2A,particularly in large cohorts,are essential for advancing the understanding of CMT.展开更多
基金This work was supported by grants from Scientific Research Project of Health and Family Planning of Hubei Province （No. WJ2015MB056）, Natural Science Foundation of Hubei Province （No. 2015CFB572）, and Clinical Research Physician Program of Tongji Medical College, HUST.
文摘Brain magnetic resonance imaging （MRI） of the elderly often reveals white matter changes （WMCs） with substantial variability across individuals. Our study was designed to explore MRI features and site-specific factors of ischemic WMCs. Clinical data of consecutive patients diagnosed with ischemic cerebral vascular disease who had undergone brain MRI were collected and analyzed. Multi-logistic regression analysis comparing patients with mild versus severe WMCs was performed to detect independent associations. Analyses of variance （ANOVAs） were used to detect regionally specific differences in lesions. We found that lesion distribution differed significantly across five cerebral areas, with lesions being predominant in the frontal lobe and parieto-occipital area. To explore WMCs risk factors, after adjusting for gender, diabetes mellitus, and hypertension, only age （P〈0.01）, creatinine （P=0.01）, alkaline phosphatase （ALP） （P=0.01） and low-density lipoprotein cholesterol （LDL-C） （P=0.03） were found to be independently associated with severe WMCs. Age （P〈0.001） was strongly associated with WMCs in the frontal lobe while hypertension was independently related to lesions in the basal ganglia （P=0.048） or infratentorial area （P=0.016）. In conclusion, MRI of WMCs showed that ischemic WMCs occurred mostly in the frontal lobe and parieto-occipital area. The infratentorial area was least affected by WMCs. Typically, age-related WMCs were observed in the frontal lobes, while hypertension-related WMCs tended to occur in the basal ganglia and infratentorial area.
文摘Objective To explore brain MRI features of methylmalonic acidemia(MMA).Methods This observational study retrospectively analyzed the clinical and imaging data of 123 patients with MMA diagnosed at Shandong Provincial Hospital Affiliated to Shandong First Medical University and Qilu Hospital of Shandong University from January 2010 to November 2022.The 123 patients were divided into 7 stages according to age of onset,neonatal period(0 to<1 month),infancy(1 month to<1 year),early childhood(1 to<4 years),preschool(4 to<7 years),school age(7 to<13 years),adolescent(13 to 17 years)and adult(>17 years).All patients underwent brain MRI scanning.The imaging performances were evaluated,including the number,location,morphology of the lesions.Results Of the 123 patients,40 were in the neonatal period,29 in infancy,13 in early childhood,9 in preschool,6 in school age,13 in adolescence,and 13 in adulthood.The first symptoms of patients in the neonatal period were mainly digestive system abnormalities,such as difficulty in breastfeeding(37.5%,15/40)and vomiting(25.0%,10/40),with neurological symptoms gradually becoming the main manifestations from infancy.Seventy-three cases(59.3%)showed significant abnormalities on cranial MRI,including 17 cases with 33 foci in the neonatal period,23 cases with 53 foci in infancy,11 cases with 16 foci in early childhood,2 cases with 2 foci in preschool,3 cases with 7 foci in school age,7 cases with 9 foci in adolescence,and 10 cases with 16 foci in adulthood.In neonatal period,the main manifestations were myelin dysplasia(18%,6/33),dilatation of the lateral ventricular system(18%,6/33),and pallidal bulb infarct foci(18%,6/33);in infancy,the main manifestations were hypoplasia or thinning of the corpus callosum(30%,16/53);in early childhood,the main manifestations were pallidal bulb infarct foci(38%,6/16);and the two MRI abnormalities in preschool were pallidum and thalamic infarct foci;in school age,the main manifestations were infarct foci in the chiasmatic nucleus(29%,2/7)and in the caudate nucleus(29%,2/7);in adolescence,the main manifestation was dilatation of the lateral ventricular system(33%,3/9);and in adulthood,the main manifestation was dilatation of the lateral ventricular system(19%,3/16).Conclusion By staging the age of onset,it is found that the imaging manifestations of MMApatients show significant differences with age,suggesting that there is a dynamic nature of MMA damage to brain structures at different developmental stages.
基金supported by the National Natural Science Foundation of China(Nos.81771366 and 82171172)the Hunan Provincial Natural Science Foundation(Nos.2022JJ30910 and 2025JJ60567).
文摘To the Editor:Charcot–Marie–Tooth disease type 2A(CMT2A),caused by mutations in Mitofusin-2(MFN2),is the most common form of axonal CMT,accounting for 20–30%of CMT2.[1,2]CMT2A exhibits clinical and genetic heterogeneity,with most disease-causing mutations located within the conserved guanosine triphosphatase(GTPase)domains.[3]Intra-familial variability within the family has been observed.Consequently,comprehensive genotype–phenotype studies of CMT2A,particularly in large cohorts,are essential for advancing the understanding of CMT.
