scholarly journals Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

2020 ◽  
Author(s):  
Jenni M. Lehtonen ◽  
Mari Auranen ◽  
Niklas Darin ◽  
Kalliopi Sofou ◽  
Laurence Bindoff ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Diagnostic Value ◽  
Serum Biomarkers ◽  
Muscle Sample

scholarly journals Serum biomarkers in primary mitochondrial disorders

2021 ◽  
Author(s):  
Kristin N Varhaug ◽  
Omar Hikmat ◽  
Hanne Linda Nakkestad ◽  
Christian A Vedeler ◽  
Laurence A Bindoff
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Mitochondrial Disorders ◽  
Serum Biomarkers ◽  
Fibroblast Growth Factor 21 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mitochondrial Dna Deletion ◽  
Muscle Involvement

Abstract The aim of this study was to explore the utility of the serum biomarkers neurofilament light chain (NF-L), fibroblast growth factor 21 (FGF-21) and growth and differentiation factor 15 (GDF-15) in diagnosing primary mitochondrial disorders. We measured serum NF-L, FGF-21 and GDF-15 in 26 patients with a genetically proven mitochondrial disease. FGF-21 and GDF-15 were measured by enzyme-linked immunosorbent assay and NF-L with the Simoa assay. NF-L was highest in patients with multisystemic involvement that included the central nervous system such as those with the m.3242A>G mutation. Mean NF-L was also highest in patients with epilepsy versus those without (49.74 pg/ml versus 19.7 pg/ml (p = 0.015)), while FGF-21 and GDF-15 levels were highest in patients with prominent myopathy, such as those with single mitochondrial DNA deletion. Our results suggest that the combination of NF-L, FGF-21 and GDF-15 is useful in the diagnostic evaluation of mitochondrial disease. GDF-15 and FGF-21 identify those with muscle involvement while NF-L is a clear marker for central nervous system involvement independent of underlying mitochondrial pathology. Levels of NF-L appear to correlate with the degree of ongoing damage suggesting, therefore, that monitoring NF-L levels may provide prognostic information and a way of monitoring disease activity.

scholarly journals Diagnostic Value of Serum Biomarkers for Differentiating Central and Peripheral Causes of Acute Vertigo

2020 ◽  
Vol 7 ◽  
Author(s):  
Jong-Hee Sohn ◽  
Chul-Ho Kim ◽  
Sang-Hwa Lee ◽  
Jong Ho Kim ◽  
Jae Jun Lee
Keyword(s):  
Diagnostic Value ◽  
Serum Biomarkers

Neutrophil CD64 combined with PCT, CRP and WBC improves the sensitivity for the early diagnosis of neonatal sepsis

2016 ◽  
Vol 54 (2) ◽  
Author(s):  
Ai-Ping Yang ◽  
Jun Liu ◽  
Lei-He Yue ◽  
Hong-Qi Wang ◽  
Wen-Juan Yang ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Early Diagnosis ◽  
Logistic Regression Analysis ◽  
Neonatal Sepsis ◽  
Serum Levels ◽  
Diagnostic Value ◽  
Serum Biomarkers ◽  
Sepsis Group ◽  
Neutrophil Cd64

AbstractThe aim of this study was to determine whether neutrophil CD64 (nCD64) combined with procalcitonin (PCT), C-reactive protein (CRP) and white blood cell count (WBC) can increase the sensitivity and accuracy of neonatal sepsis diagnosis.The serum levels of nCD64, CRP, PCT and WBC were detected in 60 patients with neonatal sepsis and 60 patients with non-sepsis. Sensitivity, specificity, positive and negative predictive values, receiver operating characteristic (ROC) area under the curve (AUC), and logistic regression analysis were performed to evaluate the diagnostic value of these markers on neonatal sepsis.Serum levels of nCD64, PCT, CRP and WBC were higher in the sepsis group than non-sepsis group (p<0.001). The sensitivities of nCD64, PCT, CRP and WBC at the recommended cut-off level for all infants were 79.5%, 68.2%, 38.6% and 52.3%, respectively. The best combination was nCD64 and PCT, which obtained sensitivity of 90.9%, largest AUC of 0.922, and a negative predictive value of 89.2%. However by using an optimal cut-off value, the sensitivities of all four biomarkers for the diagnosis of neonatal sepsis were increased to 95.5%. Except for WBC, the birth weight and gestational age had no effects on the diagnostic value of these serum biomarkers.nCD64 and PCT are better diagnostic biomarkers for early diagnosis of neonatal sepsis as compared to CRP. With the help of optimal cut-off value based on ROC curve and logistic regression analysis, the combination of these biomarkers could improve the sensitivity for the diagnosis of suspected late-onset neonatal sepsis based on common serum biomarkers.

The diagnostic accuracy of biomarkers for diagnosis of primary biliary cholangitis (PBC) in anti-mitochondrial antibody (AMA)-negative PBC patients: a review of literature

2017 ◽  
Vol 56 (1) ◽  
Author(s):  
Federica de Liso ◽  
Caterina Matinato ◽  
Mariangela Ronchi ◽  
Rita Maiavacca
Keyword(s):  
Diagnostic Value ◽  
Serum Biomarkers ◽  
Primary Biliary Cholangitis ◽  
Nuclear Pore ◽  
Biliary Cirrhosis ◽  
Mean Values ◽  
Nuclear Antigens ◽  
Diagnostic Role ◽  
New Biomarkers ◽  
Mitochondrial Antibody

AbstractPrimary biliary cholangitis (PBC), also known as primary biliary cirrhosis, is an autoimmune disease of the liver characterized by anti-mitochondrial antibodies (AMA) in 90%–95% of patients. The aim of this study was to evaluate the diagnostic value of several serum biomarkers in patients with PBC but negative for AMA. Some antinuclear antibodies (ANA) pattern, detected by indirect immunofluorescence (IIF), such as multiple nuclear dot (MND) and rim-like patterns are well-known to be specific for PBC. The corresponding nuclear antigens are the components of the nuclear pore complex (Gp210 for rim-like pattern) and Sp100, PML proteins (for MND pattern) detectable by immunoblotting and ELISA methods. More recently, new biomarkers have been evaluated in order to improve the diagnostic sensitivity, such as kelch-like 12 (KLHL12) and hexokinase-1. Considering these different serum biomarkers, studies evaluating their diagnostic role in AMA-negative PBC patients compared to AMA-positive ones and controls were included in this review. Pooled sensitivity and specificity were 37% and 85%, respectively. The overall PPV and NPV mean values were 45% and 83%. Even if all biomarkers are very specific for PBC, the overall sensitivity was poor and therefore is necessary to identify a marker with a greater sensitivity for PBC in AMA-negative patients.

scholarly journals Diagnostic Value of Multiple Serum Biomarkers for Vancomycin-Induced Kidney Injury

2021 ◽  
Vol 10 (21) ◽  
pp. 5005
Author(s):  
Sang-Mi Kim ◽  
Hyun-Seung Lee ◽  
Min-Ji Kim ◽  
Hyung-Doo Park ◽  
Soo-Youn Lee
Keyword(s):  
Cystatin C ◽  
Tumor Necrosis Factor Receptor ◽  
Area Under The Curve ◽  
Kidney Injury ◽  
Diagnostic Value ◽  
Serum Biomarkers ◽  
Retinol Binding Protein ◽  
Control Group ◽  
Strong Negative Correlation ◽  
Retinol Binding Protein 4

Acute kidney injury (AKI) is a major contributor to in-hospital morbidity and mortality. Vancomycin, one of the most commonly used antibiotics in a clinical setting, is associated with AKI, with its incidence ranging up to 43%. Despite the high demand, few studies have investigated serum biomarkers to detect vancomycin-induced kidney injury (VIKI). Here, we evaluated the diagnostic value of nine candidate serum biomarkers for VIKI. A total of 23,182 cases referred for vancomycin concentration measurement from January 2018 to December 2019 were screened and 28 subjects with confirmed VIKI were enrolled (VIKI group). Age- and sex- matched control group consisted of 21 subjects who underwent vancomycin therapy without developing VIKI (non-VIKI group), and 23 healthy controls (HC group). The serum concentrations of clusterin, retinol binding protein 4 (RBP4), interleukin-18 (IL-18), tumor necrosis factor receptor 1 (TNF-R1), C-X-C motif chemokine ligand 10 (CXCL10), neutrophil gelatinase-associated lipocalin (NGAL), osteopontin, trefoil factor-3 (TFF3), and cystatin C were compared among the three groups, and their correlations with estimated glomerular filtration rate (eGFR) and diagnostic values for VIKI were assessed. All of the biomarkers except clusterin and RBP4 exhibited significant elevation in the VIKI group. Serum TFF3, cystatin C, TNF-R1, and osteopontin demonstrated an excellent diagnostic value for VIKI (TFF3, area under the curve (AUC) 0.932; cystatin C, AUC 0.917; TNF-R1, AUC 0.866; osteopontin, AUC 0.787); and except osteopontin, a strong negative correlation with eGFR (TFF3, r = −0.71; cystatin C, r = −0.70; TNF-R1, r = −0.60). IL-18, CXCL10, and NGAL showed weak correlation with eGFR and moderate diagnostic value for VIKI. This study tested multiple serum biomarkers for VIKI and showed that serum TFF3, cystatin C, TNF-R1, and osteopontin could efficiently discriminate VIKI patients. Further studies are warranted to clarify the diagnostic value of these biomarkers in VIKI.

Serum Biomarkers for Noninvasive Diagnosis of Liver Diseases: How laudable are these tools?

2020 ◽  
Vol 14 ◽  
Author(s):  
Ankita Singh ◽  
Vipul Ranjan ◽  
Rina Das ◽  
Karun Bhatti ◽  
Dinesh Kumar Mehta ◽  
...  
Keyword(s):  
Liver Biopsy ◽  
Liver Diseases ◽  
Liver Parenchyma ◽  
Diagnostic Value ◽  
Minimal Invasive ◽  
Serum Biomarkers ◽  
Diagnostic Tools ◽  
Geographic Population ◽  
Monitoring Therapy ◽  
Noninvasive Biomarkers

Abstract:: Innumerable reasons have been reported to affect and infect the liver and cause liver diseases. The evaluation and follow up of liver fibrosis and cirrhosis have been traditionally performed by liver biopsy. However, it has become evident that this once defined as “gold-standard” is now not the best method as it involves many limitations. Attempts to reveal non-invasive diagnostic tools have generated serum biomarkers, multiple scores, formulae, and imaging modalities. All are better tolerated, safer, more acceptable to the patient, and are less expensive than liver biopsy. Biomarkers have various advantages like minimal invasive, easy to apply with great availability and easier reproducibility, useful for monitoring therapy and less expensive. But then, direct biomarkers involved in extra cellular matrix turnover, need further validation in different geographic population and indirect biomarkers may not predict early pathophysiological changes in liver parenchyma. The accuracy and diagnostic value of most, if not all, of these biomarkers remains controversial. Hence, there is a need for biomarker which is specific for liver and can identify magnitude of clinical outcome of the disease. In this review, we discuss the clinical utility, limitations, and development of noninvasive biomarkers in their use as diagnostic and prognostic tests and analyze whether the present known serum biomarkers are laudable and accurate tools for diagnosis of liver diseases.

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