Dataset Information

Various Diseases and Clinical Heterogeneity Are Associated With "Hot Cross Bun".

ABSTRACT: Objective: To characterize the clinical phenotypes associated with the "hot cross bun" sign (HCBs) on MRI and identify correlations between neuroimaging and clinical characteristics. Methods: Firstly, we screened a cohort of patients with HCBs from our radiologic information system (RIS) in our center. Secondly, we systematically reviewed published cases on HCBs and classified all these cases according to their etiologies. Finally, we characterized all HCBs cases in detail and classified the disease spectra and their clinical heterogeneity. Results: Out of a total of 3,546 patients who were screened, we identified 40 patients with HCBs imaging sign in our cohort; systemic literature review identified 39 cases, which were associated with 14 diseases. In our cohort, inflammation [neuromyelitis optica spectrum disorders (NMOSD), multiple sclerosis (MS), and acute disseminated encephalomyelitis (ADEM)] and toxicants [toxic encephalopathy caused by phenytoin sodium (TEPS)] were some of the underlying etiologies. Published cases by systemic literature review were linked to metabolic abnormality, degeneration, neoplasm, infection, and stroke. We demonstrated that the clinical phenotype, neuroimaging characteristics, and HCBs response to therapy varied greatly depending on underlying etiologies. Conclusion: This is the first to report HCBs spectra in inflammatory and toxication diseases. Our study and systemic literature review demonstrated that the underpinning disease spectrum may be broader than previously recognized.

SUBMITTER: Zhu S

PROVIDER: S-EPMC7714952 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Various Diseases and Clinical Heterogeneity Are Associated With "Hot Cross Bun".

Zhu Shuzhen S Li Hualing H Deng Bin B Zheng Jialing J Huang Zifeng Z Chang Zihan Z Huang Yanjun Y Wen Zhibo Z Liang Yanran Y Yu Mengjue M Chan Ling-Ling LL Tan Eng-King EK Wang Qing Q

Frontiers in aging neuroscience 20201120

Objective: To characterize the clinical phenotypes associated with the "hot cross bun" sign (HCBs) on MRI and identify correlations between neuroimaging and clinical characteristics. Methods: Firstly, we screened a cohort of patients with HCBs from our radiologic information system (RIS) in our center. Secondly, we systematically reviewed published cases on HCBs and classified all these cases according to their etiologies. Finally, we characterized all HCBs cases in detail and clas ...[more]

PMID: 33328971

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Project description:BACKGROUND: Metabolites that are direct read-outs of the functional status of cells, tissues, and organs can be more closely associated with phenotype compared to other omics profiles. Previous studies showed the analytical validity of metabolomic platforms and demonstrated a utility in interpreting the impact of genetic variants.METHODS: To explore the utility of metabolomics in the context of precision medicine, we used an untargeted ultrahigh performance liquid chromatography-tandem mass spectroscopy to characterize plasma samples collected from generally healthy individuals and a deeply phenotyped cohort with various pediatric diseases.RESULTS: A total of 1244 metabolites including 224 xenobiotic compounds were quantitatively measured for 169 individuals and thus revealed complex correlation structure within and between metabolic pathways. As proofs-of-concept, perturbations of phenylalanine and tyrosine metabolic pathways in a patient with phenylketonuria and carbohydrate metabolism in patients with diabetes mellitus were recapitulated as well as highlighting other biomarkers such as 1,5−anhydroglucitol for monitoring glycemic control. We discovered multiple metabolites that were significantly associated with different diseases using an exposome-wide association analysis framework. Amino acids showed significantly changed in patients with congenital heart diseases, and multiple lipid compounds were significant for Crohn’s disease. Notably, gut microbial products showed different concentrations with the use of antibiotics. Each xenobiotic compound showed a distinct correlation pattern with endogenous metabolites.CONCLUSIONS: Untargeted metabolomics could be a powerful precision medicine platform in itself or in combination with WES. The impact of exogenous exposures such as microbial products, drugs and environmental toxicants can be directly estimated by monitoring internal exposome, enabling the discovery of novel diagnosis and treatment biomarkers in diverse diseases. A repository of metabolomics data is required, which will enable the comparison between different platforms and concentrations of thousands of metabolites across individuals.

Dataset Information

Various Diseases and Clinical Heterogeneity Are Associated With "Hot Cross Bun".

Publications

Various Diseases and Clinical Heterogeneity Are Associated With "Hot Cross Bun".

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