Metabolome analysis in the diagnosis of childhood cerebellar ataxia
Ontology highlight
ABSTRACT:
ORGANISM(S): Human Homo Sapiens
TISSUE(S): Blood
DISEASE(S): Cerebellar Ataxia
SUBMITTER: 
Jorge Sáiz
PROVIDER: ST001518 | MetabolomicsWorkbench | Tue Oct 20 00:00:00 BST 2020
REPOSITORIES: MetabolomicsWorkbench
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| mwtab | Other |
Items per page: 5 1 - 1 of 1 |
Similar Datasets
Project description:Pathological examination of gastroscopy biopsy specimens will make false diagnosis for gastric cancer (GC) due to inaccurate sampling locations and/or insufficient sampling amount. We extracted a robust qualitative transcriptional signature, based on the within-sample relative expression orderings (REOs) of gene pairs, to discriminate both GC tissues and adjacent-normal tissues from non-GC gastritis and normal gastric tissues.The qualitative transcriptional signature can be robustly applied at the individual level to aid the diagnosis of early GC.
2018-07-10 | GSE116782 | GEO
Project description:To evaluate differentially regulated pathways contributing to poor prognosis in ealy postpartum breast cancer (PPBC) RNA sequncing was performed on early PPBC (PPBC1 samples (duration between last child birth and diagnosis of breast cancer ≤5years), n=3) and late PPBC tumors (PPBC2 samples (duration between last child birth and diagnosis of breast cancer 6-10 years), n=3) and PPBC3 samples (duration between last child birth and diagnosis of breast cancer >10 years), n=4).
2023-05-03 | GSE223470 | GEO
Project description:Dengue virus is the most common arbovirus worldwide and represents a significant public health concern. To date, chronic Dengue infections have not been previously reported. While investigating the etiology of central nervous system (CNS) disease in a patient presenting with progressive dementia, we elucidated a chronic dengue infection within the CNS. Comprehensive viral immune responses in both serum and cerebrospinal fluid (CSF) were profiled by a phage-display assay (VirScan). Enrichment of Dengue viral antibodies were detected in the CSF as compared to the serum. No virus was detected in serum or CSF, but post-mortem analysis confirmed Dengue virus in the brain by quantitative polymerase chain reaction (PCR), immunohistochemistry, RNAscope and sequencing. Dengue virus was detectable by PCR and sequencing from brain biopsy tissue collected 33 months ante-mortem, confirming a chronic infection. Comprehensive antibody profiling assays can aid in the diagnosis of encephalitis of unknown etiologies. Our findings suggest that Dengue virus infections may persist in the CNS and should be considered in patients with progressive dementia in endemic regions or with relevant travel history.
2019-08-28 | GSE123125 | GEO
Project description:Purpose: PCa is the second most commonly diagnosed malignancy in men. PCa Diagnosis are based on biopsy sampling that is an invasive, expensive procedure and does not accurately represent multifocal disease. It is desirable to have an easily accessible, minimally invasive way to accurately determine the molecular signature of patient’s tumor that can aid in diagnosis and risk stratification. Methods:we enrolled a total of 70 patients underwent 12-core transrectal ultrasound (TRUS) biopsy of which 48% had cancer in the diagnosis. The mean age at diagnosis was 67.15 (IR 55/75), the mean PSA (ng/ml) at diagnosis was 7.8 (IR 4.1/13.4) and the mean TRUS Volume (ml) was 53.5 (IR 29/86). The cancer biopsy presented 73.1% of positive core. Among all cancer patients, 57% showed a High grade of cancer status (Grade 3). Controls are patients with Benign Prostate Hyperplasia (BPH). MicroRNA-expression profiling (NGS analysis) was performed to identify tumor-related microRNAs (miRs) and determine their association with clinicopathological characteristics. Results: The expression of miRs -4732-3p, let7a, 26b-5p, 98-5p, 30c-5p and 21-5p may identified Prostate Cancer in plasma samples. Higher expression of mir-4732-3p is associated with a high grade tumor Conclusions: miRs signature discriminate Prostate cancer in plasma better to PSA values and is associated with high grade tumor status
2020-11-01 | GSE118038 | GEO
Project description:Crohn’s disease (CD) is a debilitating gastrointestinal disorder that can impact the entirety of the GI tract. While substantial progress has been made in the medical management of CD, it remains incurable, frequently relapses, and is a significant financial and medical burden. The pathophysiology of CD is not well understood, but it is thought to arise in genetically susceptible individuals upon an environmental insult. Further elucidation of the disease etiology promises to expose additional therapeutic avenues, with the hope of reducing the burden of CD. One approach to understanding disease pathophysiology is to identify clinically relevant molecular disease subsets using transcriptomics. In this report, we use hierarchical clustering of the ileal transcriptomes of 34 patients to identify two CD subsets. Clinically, these clusters differed in the age of the patients at CD diagnosis, suggesting that age of disease onset impacts the pathophysiology of the disease. We found that the ileal transcriptomes of the early diagnosis cluster are enriched in inflammatory transcripts, including S100A9, which encodes a calprotectin subunit. Furthermore, levels of S100A9 distinguished individuals diagnosed before the age of 30 from those diagnosed after 30. Together, these findings suggest that medical management of CD patients should consider their age at diagnosis and therapeutic blockade of calprotectin may be beneficial in patients diagnosed earlier in life.
2022-06-02 | GSE151686 | GEO
Project description:Accurate diagnosis of Alzheimer’s disease (AD) in its earliest stage can prevent the disease and delay the onset of symptoms by maintaining a healthy lifestyle and controlling modifiable risk factors. Therefore, more sensitive, relatively inexpensive, non-invasive, and simple screening tools are required for the early diagnosis and progression monitoring of AD. Here, we designed a self assembled nanoparticle-mediated amplified fluorogenic immunoassay (SNAFIA) consisting of magnetic and fluorophore-loaded polymeric nanoparticles. Multiple simultaneous captures and magnetic separation of biomarkers and target-specific fluorophore emission induced a one-tomulti signal, resulting in a low detection limit (236 aM), good reliability (R2 = 0.991), and wide analytical range (0.320–1000 fM) for APOE and CAP1 biomarkers in human serum and tear fluid. More importantly, SNAFIA successfully differentiated AD patients from healthy controls with 90% sensitivity and 100% specificity in less than 1 h in 39 clinical tear samples. As an easily accessible diagnostic tool with fast and accurate results, SNAFIA can help diagnose AD early to aid in long-term care planning, increase the efficiency of clinical trials, and dramatically accelerate therapeutic development.
2024-01-26 | PXD042142 | Pride
Project description:Whole blood transcriptional profiles of patients with (1) active pulmonary ['AdjuVIT active TB' and 'New active pulmonary'] and (2) extrapulmonary TB ['New active-extrapulmonary'] at time of diagnosis, (3) long-term recovery after treatment for active pulmonary TB ['AdjuVIT active TB'], (4) febrile illnesses presenting to hospital ['Fever mixed infection'] and (5) febrile pneumonia ['Fever pneumonia'] before antibiotic treatment, and (6) healthy vounteers. Each array sample represents a separate individual in each group. This submission includes two human whole genome Agilent Array Designs: A-MEXP-2104 and A-AGIL-28. Each of the individual raw array files are included as well as a single processed file representing the data matrix of all the merged and normalised data for the probes that are shared by the two array designs.
2016-10-28 | E-MTAB-4257 | biostudies-arrayexpress
Project description:Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive fibrosing interstitial lung disease that is unresponsive to current therapy. While it carries a median survival of less than 3 years its rate of progression varies widely between patients. We hypothesized that studying the gene expression profiles of physiologically stable patients and those in which the disease progressed rapidly after the initial diagnosis would aid in the search for biomarkers and contribute to the understanding of disease pathogenesis.
2009-04-07 | GSE11665 | GEO
Project description:As a key component for transcription, Transcriptional results of INTS11 knockdown were analyzed by chromatin associated RNA sequencing (ChrRNA-seq). We used ChrRNA-seq, 4sU-seq and TT-seq data of HCT116-INTS11-AID cells under normal condition, induction condition and recovery condition, and HCT116-INTS9-AID cells, Chrna-seq data of HCT116-CPSF73-AID cells before and after protein knockdown were analyzed for gene expression profile.
2023-07-25 | GSE207268 | GEO
Project description:Preoperative B-scan ultrasonography and Computed Tomography (CT) examination in 2 cases suggested that nephroblastoma . Treated with radical nephrectomy after general anesthesia. After operation,MRTK diagnosis by pathological examination. Regular chemotherapy 7 courses(Child 1) and 12 courses(Child 2),followed up for 2 years(Child 1) and 3 years and 1 month(Child 2), without symptoms. RNA-seq results showed 2203 differential genes (DEGs) in the kidney tissue of children with MRTK compared to normal tissue. GO analysis suggested that most DEGs participate in protein binding. KEGG results showed that the DEGs were mainly involved in the PI3K-Akt signaling pathway and microRNA-related proteins.
2021-02-26 | GSE167547 | GEO