BACKGROUND Shwachman-Diamond syndrome(SDS)is a rare genetic disorder that affects multiple organs,primarily the liver.Most patients are diagnosed during infancy or early childhood.As they grow older,the majority of af...BACKGROUND Shwachman-Diamond syndrome(SDS)is a rare genetic disorder that affects multiple organs,primarily the liver.Most patients are diagnosed during infancy or early childhood.As they grow older,the majority of affected children may experience spontaneous remission,and cases of cirrhosis in adults are rarely reported.CASE SUMMARY A 36-year-old male patient presented with massive ascites.Laboratory tests revealed pancytopenia and a serum-ascites albumin gradient greater than 1.1 g/dL.An abdominal computed tomography scan demonstrated cirrhosis,splenomegaly,pancreatic fat infiltration,and a substantial accumulation of peritoneal fluid.Gastroscopy identified esophageal varices.Liver stiffness measurement indicated a value of 32.7 kPa.Based on the results of auxiliary examinations,common causes of cirrhosis were excluded,and a mutation in the Shwachman-Bodian-Diamond syndrome gene was ultimately identified through whole-exome sequencing.The patient was diagnosed with cirrhosis secondary to SDS.Following the correction of hypoalbuminemia and administration of diuretics,the patient's ascites resolved.CONCLUSION Patients with liver cirrhosis who also exhibit pancreatic fat infiltration and pancytopenia necessitate further exon testing to exclude the possibility of SDS.展开更多
BACKGROUND Insulin resistance(IR)plays a critical role in the musculoskeletal metabolic disorders associated with type 2 diabetes mellitus(T2DM).AIM To develop multiparametric magnetic resonance imaging(MRI)-derived b...BACKGROUND Insulin resistance(IR)plays a critical role in the musculoskeletal metabolic disorders associated with type 2 diabetes mellitus(T2DM).AIM To develop multiparametric magnetic resonance imaging(MRI)-derived biomarkers and diagnostic models for non-invasive identification and stratification of IR.METHODS Parameters of paravertebral muscles and vertebra were evaluated using quantitative chemical shift-encoded MRI and diffusion tensor imaging protocols.Tripartite cohort analyses were conducted through Kruskal-Wallis H tests with post hoc Dunn-Bonferroni correction for MRI-derived metrics.Diagnostic performance for T2DM-IR was assessed after selecting the most significant features through Z-score standardization and multinomial logistic regression models.RESULTS This study evaluated 97 subjects(control:39 subjects,T2DM-IR:18 subjects,T2DM patients without IR:40 subjects)using multiparametric MRI protocols.Significant intergroup differences were observed in the cross-sectional area(P=0.047)and apparent diffusion coefficient(P=0.027)of the psoas,and the crosssectional area(P=0.042)of the erector.More intramyocellular lipid(IMCL)in the psoas(P=0.001)and erector(P=0.004)were found in the T2DM-IR group.Multinomial receiver operating characteristic curve analysis demonstrated that IMCL of the erector performed better(area under the curve=0.838,sensitivity:0.800,specificity:0.938)in the diagnosis of T2DM-IR.CONCLUSION IMCL in erector emerges as a highly discriminative metric for T2DM-IR diagnosis.Multiparametric MRI enables non-invasive quantification of early musculoskeletal metabolic injury,providing reliable biomarkers for IR identification and stratification.展开更多
Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LS...Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.展开更多
文摘BACKGROUND Shwachman-Diamond syndrome(SDS)is a rare genetic disorder that affects multiple organs,primarily the liver.Most patients are diagnosed during infancy or early childhood.As they grow older,the majority of affected children may experience spontaneous remission,and cases of cirrhosis in adults are rarely reported.CASE SUMMARY A 36-year-old male patient presented with massive ascites.Laboratory tests revealed pancytopenia and a serum-ascites albumin gradient greater than 1.1 g/dL.An abdominal computed tomography scan demonstrated cirrhosis,splenomegaly,pancreatic fat infiltration,and a substantial accumulation of peritoneal fluid.Gastroscopy identified esophageal varices.Liver stiffness measurement indicated a value of 32.7 kPa.Based on the results of auxiliary examinations,common causes of cirrhosis were excluded,and a mutation in the Shwachman-Bodian-Diamond syndrome gene was ultimately identified through whole-exome sequencing.The patient was diagnosed with cirrhosis secondary to SDS.Following the correction of hypoalbuminemia and administration of diuretics,the patient's ascites resolved.CONCLUSION Patients with liver cirrhosis who also exhibit pancreatic fat infiltration and pancytopenia necessitate further exon testing to exclude the possibility of SDS.
基金Supported by National Natural Science Foundation of China,No.81930045 and No.31630025.
文摘BACKGROUND Insulin resistance(IR)plays a critical role in the musculoskeletal metabolic disorders associated with type 2 diabetes mellitus(T2DM).AIM To develop multiparametric magnetic resonance imaging(MRI)-derived biomarkers and diagnostic models for non-invasive identification and stratification of IR.METHODS Parameters of paravertebral muscles and vertebra were evaluated using quantitative chemical shift-encoded MRI and diffusion tensor imaging protocols.Tripartite cohort analyses were conducted through Kruskal-Wallis H tests with post hoc Dunn-Bonferroni correction for MRI-derived metrics.Diagnostic performance for T2DM-IR was assessed after selecting the most significant features through Z-score standardization and multinomial logistic regression models.RESULTS This study evaluated 97 subjects(control:39 subjects,T2DM-IR:18 subjects,T2DM patients without IR:40 subjects)using multiparametric MRI protocols.Significant intergroup differences were observed in the cross-sectional area(P=0.047)and apparent diffusion coefficient(P=0.027)of the psoas,and the crosssectional area(P=0.042)of the erector.More intramyocellular lipid(IMCL)in the psoas(P=0.001)and erector(P=0.004)were found in the T2DM-IR group.Multinomial receiver operating characteristic curve analysis demonstrated that IMCL of the erector performed better(area under the curve=0.838,sensitivity:0.800,specificity:0.938)in the diagnosis of T2DM-IR.CONCLUSION IMCL in erector emerges as a highly discriminative metric for T2DM-IR diagnosis.Multiparametric MRI enables non-invasive quantification of early musculoskeletal metabolic injury,providing reliable biomarkers for IR identification and stratification.
基金grants from the National Natural Science Foundation of China，the National Key Clinical Specialty Discipline Construction Program,and Fujian Key Clinical Specialty Discipline Construction Program
文摘Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.
