Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

Aims. In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). Methods. According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). Results. The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control x ¯ HRC/15 = 3.0 ± 0.2; mild x ¯ HRC/15 = 3.6 ± 0.2; moderate x ¯ HRC/15 = 4.8 ± 0.3; severe neurogenic lesion x ¯ HRC/15 = 5.0 ± 0.3). Conclusions. Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.

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Neutrophil gelatinase-associated lipocalin as a potential biomarker for pulmonary thromboembolism

Turkish Journal of Biochemistry ◽

10.1515/tjb-2018-0308 ◽

2019 ◽

Vol 45 (1) ◽

pp. 51-56

Author(s):

Songul Ozyurt ◽

Mevlut Karatas ◽

Medeni Arpa ◽

Bilge Yilmaz Kara ◽

Hakan Duman ◽

...

Keyword(s):

Predictive Value ◽

Pulmonary Thromboembolism ◽

High Sensitivity ◽

Control Group ◽

Arterial Blood Gas ◽

Neutrophil Gelatinase Associated Lipocalin ◽

Arterial Blood ◽

Potential Biomarker ◽

Healthy Control ◽

Neutrophil Gelatinase

Abstract Objective Pulmonary thromboembolism (PTE) is a clinical condition that can be lethal unless promptly diagnosed and treated. The objective was to evaluate the significance of serum neutrophil gelatinase-associated lipocalin (NGAL) in the diagnosis of PTE. Materials and methods In this study, 60 patients hospitalized for acute PTE between May 2015 and December 2016 were enrolled. PTE was diagnosed using spiral computed tomography angiography of the thorax. Cardiac enzyme levels, arterial blood gas, and echocardiography measurements were performed. Whole blood samples were drawn to measure serum NGAL before treatment. Results The PTE group comprised 34 women and 26 men, and the healthy control group included 22 women and 18 men. The mean ages of the patient and control groups were 70.3 ± 14.4 years and 69.0 ± 10.2 years, respectively. Serum NGAL was significantly higher in the patients than in the controls (88.6 ± 33.6 vs. 31.7 ± 10.0 ng/mL, p < 0.001, respectively). The optimal NGAL cut-off value was >50 ng/mL, the sensitivity was 100%, specificity was 98.3%, the negative predictive value was 100%, and the positive predictive value was 68%. Conclusion Serum NGAL is a new biomarker with high sensitivity and specificity to detect, diagnose, and exclude PTE.

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Serum Apurinic/Apyrimidinic Endodeoxyribonuclease 1 (APEX1) Level as a Potential Biomarker of Cholangiocarcinoma

Biomolecules ◽

10.3390/biom9090413 ◽

2019 ◽

Vol 9 (9) ◽

pp. 413 ◽

Cited By ~ 3

Author(s):

Doungdean Tummanatsakun ◽

Tanakorn Proungvitaya ◽

Sittiruk Roytrakul ◽

Temduang Limpaiboon ◽

Sopit Wongkham ◽

...

Keyword(s):

Signal Peptide ◽

Transmembrane Helix ◽

Control Group ◽

Cleavage Sites ◽

Dot Blot ◽

Peptide Cleavage ◽

Potential Biomarker ◽

Predicted Signal Peptide ◽

Healthy Control ◽

Dot Blot Analysis

Diagnostic and/or prognostic biomarkers for cholangiocarcinoma (CCA) are still insufficient with poor prognosis of patients. To discover a new CCA biomarker, we constructed our secretome database of three CCA cell lines and one control cholangiocyte cell line using GeLC-MS/MS. We selected candidate proteins by five bioinformatics tools for secretome analysis. The inclusion criteria were as follows: having predicted signal peptide or being predicted as non-classically secreted protein; together with having no transmembrane helix and being previously detected in plasma and having the highest number of signal peptide cleavage sites. Eventually, apurinic/apyrimidinic endodeoxyribonuclease 1 (APEX1) was selected for further analysis. To validate APEX1 as a bio-marker for CCA, serum APEX1 levels of 80, 39, and 40 samples collected from CCA, benign biliary diseases (BBD), and healthy control groups, respectively, were measured using dot blot analysis. The results showed that serum APEX1 level in CCA group was significantly higher than that in BBD or healthy control group. Among CCA patients, serum APEX1 level was significantly higher in patients having metastasis than in those without metastasis. The higher level of serum APEX1 was correlated with the shorter survival time of the patients. Serum APEX1 level might be a diagnostic and prognostic biomarker for CCA.

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Differential Responsiveness of the Platelet Biomarkers, Systemic CD40 Ligand, CD62P, and Platelet-Derived Growth Factor-BB, to Virally-Suppressive Antiretroviral Therapy

Frontiers in Immunology ◽

10.3389/fimmu.2020.594110 ◽

2021 ◽

Vol 11 ◽

Author(s):

Helen C. Steel ◽

W. D. Francois Venter ◽

Annette J. Theron ◽

Ronald Anderson ◽

Charles Feldman ◽

...

Keyword(s):

Antiretroviral Therapy ◽

Growth Factor ◽

Platelet Activation ◽

Cd40 Ligand ◽

Platelet Derived Growth Factor ◽

Suppressive Therapy ◽

Control Group ◽

Soluble Cd40 Ligand ◽

Potential Biomarker ◽

Healthy Control

Systemic biomarkers of inflammation, including cytokines and chemokines, are potentially useful in the management of both HIV infection and non-AIDS-defining disorders. However, relatively little is known about the utility of measurement of circulating biomarkers of platelet activation as a strategy to monitor the efficacy of combination antiretroviral therapy (cART), as well as the persistence of systemic inflammation following virally-suppressive therapy in HIV-infected persons. These issues have been addressed in the current study to which a cohort consisting of 199 HIV-infected participants was recruited, 100 of whom were cART-naïve and the remainder cART-treated and virally-suppressed. Fifteen healthy control participants were included for comparison. The study focused on the effects of cART on the responsiveness of three biomarkers of platelet activation, specifically soluble CD40 ligand (sCD40L), sCD62P (P-selectin), and platelet-derived growth factor-BB (PDGF-BB), measured using multiplex suspension bead array technology. Most prominently sCD40L in particular, as well as sCD62P, were significantly elevated in the cART-naïve group relative to both the cART-treated and healthy control groups. However, levels of PDGF-BB were of comparable magnitude in both the cART-naïve and –treated groups, and significantly higher than those of the control group. Although remaining somewhat higher in the virally-suppressed group relative to healthy control participants, these findings identify sCD40L, in particular, as a potential biomarker of successful cART, while PDGF-BB may be indicative of persistent low-level antigenemia.

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Sputum procalcitonin – a potential biomarker in stable bronchiectasis

ERJ Open Research ◽

10.1183/23120541.00285-2021 ◽

2021 ◽

pp. 00285-2021

Author(s):

William Good ◽

Gene Jeon ◽

Irene Zeng ◽

Louanne Storey ◽

Helen Qiao ◽

...

Keyword(s):

Observational Study ◽

Geometric Mean ◽

Intraclass Correlation ◽

Induced Sputum ◽

Control Group ◽

Healthy Controls ◽

Procalcitonin Level ◽

Pooled Data ◽

Potential Biomarker ◽

Healthy Control

Introduction/AimSputum procalcitonin has been demonstrated to be elevated in exacerbations of bronchiectasis. The primary aim was to investigate whether sputum procalcitonin levels were higher in patients with stable bronchiectasis compared with healthy-controls. We also assessed differences in procalcitonin levels in spontaneously expectorated and induced sputum samples and their repeatability one week later.MethodsParticipants included were aged over 18 years and had either radiologically confirmed bronchiectasis or were healthy-controls. Patients with bronchiectasis were clinically stable for at least six weeks and had both spontaneous and induced sputum collected at visit one and again, seven days later. Only induced sputum samples were collected from healthy-controls during visit one. Sputum procalcitonin concentrations in sputum were measured.ResultsThirty patients with bronchiectasis and 15 healthy-controls were enrolled in this observational study. In the pooled data from visit 1 and 2, the geometric mean procalcitonin level in induced sputum was significantly higher in the bronchiectasis group than in the healthy-control group (1.5 ng·mL−1 [95%CI 1.0–2.1] versus 0.4 ng·mL−1 [95%CI 0.2–0.9], mean ratio: 3.6 [95% CI 1.5–8.6], p=0.006). Mean procalcitonin level was higher in spontaneous sputum than in induced sputum at visit 1 (1.8 ng·mL−1 [95%CI 1.2–2.7] versus 1.1 ng·mL−1 [95%CI 0.7–1.8]) and visit 2 (1.5 ng·mL−1 [95%CI 1.0–2.5] versus 1.2 ng·mL−1 [95%CI 0.8–1.6], p-value=0.001). Repeating spontaneous and induced sputum procalcitonin levels one week later produced similar concentrations (p-value=0.29; intraclass correlation co-efficient (ICC)=0.76 and p-value=0.72; ICC=0.70 respectively).ConclusionSputum procalcitonin is increased in patients with stable bronchiectasis and has potential as a biomarker of airway inflammation and infection in bronchiectasis.

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Elevated Serum Ras Levels in Patients with LGL Leukemia.

Blood ◽

10.1182/blood.v108.11.4457.4457 ◽

2006 ◽

Vol 108 (11) ◽

pp. 4457-4457

Author(s):

Erin M. Nelli ◽

Thomas P. Loughran ◽

Kim Leitzel ◽

Suhail M. Ali ◽

Lawrence Demers ◽

...

Keyword(s):

Elevated Serum ◽

Myelogenous Leukemia ◽

Control Group ◽

Ras Signaling ◽

Baseline Serum ◽

Upper Limit ◽

Potential Biomarker ◽

Healthy Control ◽

Lgl Leukemia ◽

Non Parametric

Abstract Background: Ras is a GDP/GTP binding G protein that acts as a molecular switch converting signals from the cell membrane to the nucleus to regulate cell proliferation, differentiation, and protein synthesis. Activation of ras oncogenes has been identified in a variety of cancers, including 30% of patients with acute myelogenous leukemia (AML). Large granular lymphocyte (LGL) leukemia is a clonal T-cell lymphoproliferative disorder associated with chronic neutropenia, anemia, or autoimmune diseases, particularly rheumatoid arthritis. The purpose of this study was to evaluate serum ras levels in patients with LGL leukemia. Methods: A novel ras p21 ELISA (Oncogene Science/Bayer HealthCare) employing two monoclonal antibodies was utilized to quantify ras levels in baseline serum obtained from 32 patients with LGL leukemia. A control group of 48 healthy subjects was also used to establish a cutoff for the upper limit of normal for serum ras levels. A 95% non-parametric cut-off was used to determine significant differences in the frequency of elevated serum ras levels in control vs. LGL leukemia patients. Results: The median serum ras level in the 48 healthy control subjects was 125 pg/mL, with a 5% to 95% range of 50–422 pg/mL. The upper limit of normal for serum ras was defined as 422 pg/mL, as determined using the 95 % non-parametric cut-off. In the LGL leukemia patient group, 19 of 32 patients (59 %) had elevated baseline serum ras levels (median 484 pg/mL) (p=0.0001) when utilizing the healthy control upper limit of normal cut-off value. Conclusions: The results of this study indicate that the majority of LGL leukemia patients have significantly elevated serum ras levels when compared to healthy controls. Serum ras should be evaluated as a potential biomarker in larger leukemia trials, especially for response to treatment with inhibitors of the ras signaling pathway.

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Alpha-2-Macroglobulin as a New Promising Biomarker Improving the Diagnostic Sensitivity of Bovine Paratuberculosis

Frontiers in Veterinary Science ◽

10.3389/fvets.2021.637716 ◽

2021 ◽

Vol 8 ◽

Author(s):

Hyun-Eui Park ◽

Jin-Sik Park ◽

Hong-Tae Park ◽

Jeong-Gyu Choi ◽

Jeong-Ih Shin ◽

...

Keyword(s):

Serum Proteins ◽

Clinical Signs ◽

Healthy Control Group ◽

Economic Losses ◽

Diagnostic Tools ◽

Control Group ◽

Serum Samples ◽

Potential Biomarker ◽

Healthy Control ◽

Granulomatous Enteritis

Johne's disease (JD) is a chronic granulomatous enteritis of ruminants caused by Mycobacterium avium subsp. paratuberculosis (MAP), which induces persistent diarrhea and cachexia. JD causes huge economic losses to the dairy industry due to reduced milk production and premature culling. Infected animals excrete MAP via feces during the prolonged subclinical stage without exhibiting any clinical signs. Therefore, accurate detection of subclinical stage animals is crucial for successful eradication of JD in the herd. In the current study, we analyzed serum samples of MAP-infected and non-infected cattle to identify potential biomarker candidates. First, we identified 12 differentially expressed serum proteins in subclinical and clinical shedder groups compared to the healthy control group. Second, we conducted ELISA for three selected biomarkers (alpha-2-macroglobulin (A2M), alpha-1-beta glycoprotein, and transthyretin) and compared their diagnostic performance with that of two commercial ELISA diagnostic kits. Serum A2M levels were significantly higher in the MAP-exposed, subclinical shedder, subclinical non-shedder, and clinical shedder groups than in the healthy control group, suggesting its possible use as a diagnostic biomarker for MAP infection. Furthermore, A2M demonstrated a sensitivity of 90.4%, and a specificity of 100% while the two commercial ELISA kits demonstrated a sensitivity of 67.83 and 73.04% and a specificity of 100%, respectively. In conclusion, our results suggest that measuring A2M by ELISA can be used as a diagnostic tool to detect MAP infection, considerably improving the detection rate of subclinical shedders and MAP-exposed animals that are undetectable using current diagnostic tools.

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Serum AFU, 5’-NT and AFP as biomarkers for primary hepatocellular carcinoma diagnosis

Open Medicine ◽

10.1515/med-2017-0051 ◽

2017 ◽

Vol 12 (1) ◽

pp. 354-358 ◽

Cited By ~ 7

Author(s):

Zhu Junna ◽

Chen Gongde ◽

Xu Jinying ◽

Zhou Xiu

Keyword(s):

Hepatocellular Carcinoma ◽

Serum Level ◽

Roc Curve ◽

Diagnostic Sensitivity ◽

Primary Hepatocellular Carcinoma ◽

Control Group ◽

Healthy Controls ◽

Clinical Value ◽

Potential Biomarker ◽

Healthy Control

AbstractTo evaluate the clinical value of serum α-L-fucosidase (AFU), 5’-nucleotidase (5’-NT) and alpha fetoprotein (AFP) as biomarkers for primary hepatocellular carcinoma (PHC) diagnosis. Methods: Thirty six primary hepatocellular carcinoma (PHC) patients and 36 healthy controls were recruited in this study from February 2014 to January 2016 in the Second People’s Hospital of Tianjin. The serum level of AFU, 5’-NT and AFP were examined and compared between the two groups. The diagnostic sensitivity, specificity area under the receiver operating characteristic (ROC) curve were calculated by STATA11.0 software. Results: The serum level of AFU, 5’-NT, AFP were 30.87±10.43(U/L), 5.58±3.89(U/L), 233.60±226.60 (μg/L) respectively for primary hepatocellular carcinoma group and 19.96±6.73 (U/L), 1.87±0.84 (U/L), 16.64±14.17 (μg/L) for healthy control groups. The serum level of AFU, 5’-NT and AFP in primary hepatocellular carcinoma group were significant higher than those of healthy control group (P<0.001). The diagnostic sensitivity and specificity were 0.78 (95%CI:l0.61-0.90), 0.64 (95%CI:0.46-0.79) for serum AFU, 0.75(95%CI:0.58-0.88), 0.72(95%CI:0.55- 0.86) for serum 5’-NT and 0.72 (95%CI:0.55-0.86), 0.92 (95%CI:0.78-0.98) for serum AFP respectively. The AUC under the ROC curve were 0.80 (0.69-0.90), 0.80 (0.69-0.91) and 0.87 (0.780-0.96) for serum AFU, 5’-NT and AFP respectively. Positive correlation between AFU and 5’-NT (rpearson=0.63, P<0.05), AFU and AFP (rpearson=0.49, P<0.05), 5’-NT and AFP(rpearson=0.44, P<0.05) were found in the primary hepatocellular carcinoma patients. Conclusion: Serum AFU, 5’-NT and AFP were higher in PHC patients than those of healthy controls. The difference between PHC patients and healthy controls made serum AFU, 5’-NT and AFP potential biomarker for PHC diagnosis.

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Cystatin C as a potential biomarker to evaluate migraine

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20200005 ◽

2020 ◽

Vol 78 (6) ◽

pp. 337-341

Author(s):

Turan AKDAĞ ◽

Ali Ulvi UCA

Keyword(s):

Social Sciences ◽

Cystatin C ◽

Disease Duration ◽

Serum Levels ◽

High Serum ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Potential Biomarker ◽

The Social ◽

Healthy Control

ABSTRACT Background: Migraine is a multifactorial neurovascular syndrome and closely associated to inflammation. Cystatin C (Cys C) is a neuroendocrine polypeptide which also plays a role in inflammation. Objective: To investigate the levels of Cys C in migraine patients without aura. Methods: A total of 80 participants were included in the study; 40 patients and 40 healthy controls. Serum Cys C levels were investigated by using enzyme-linked immunosorbent assay (ELISA). Statistical analysis were performed using Statistical Package for the Social Sciences (SPSS) version 22.0 (SPSS Inc, IL, USA). Results: Serum Cys C levels were found as 73.88 ng/mL in the patient group and 24.92 ng/mL in the healthy control group, being significantly higher among patients (p=0.000). Serum Cys C levels were significacntly different across age subgroups among patients (p=0.049), but not among controls. However, visual analog scale (VAS) (p=0.707), disease duration time (p=0.725) and body mass index (p=0.136) were not significantly different between the two groups. Conclusion: Our findings demonstrate that high serum Cys C levels are independently associated to migraine without aura. To the best of our knowledge, this is the first study to determine the serum levels of Cys C in patients with migraine. Thus, serum Cys C may be a potential biomarker of migraine.

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Lung Cancer and Pulmonary Tuberculosis - A Comparative Population-Genetic Study

Balkan Journal of Medical Genetics ◽

10.2478/v10034-010-0003-y ◽

2009 ◽

Vol 12 (2) ◽

pp. 45-52 ◽

Cited By ~ 2

Author(s):

D Pešut ◽

D Marinkovic

Keyword(s):

Lung Cancer ◽

Pulmonary Tuberculosis ◽

Genetic Study ◽

Population Genetic ◽

Dominant Factor ◽

Control Group ◽

Population Genetic Study ◽

Significant Difference ◽

Healthy Control ◽

Comparative Population

Lung Cancer and Pulmonary Tuberculosis - A Comparative Population-Genetic StudySeveral host genes proven to contribute to active tuberculosis (TB) and some of the localized major susceptibility loci, which influence lung cancer (LC) risk, are of considerable scientific interest, but do not confer high enough risk to be clinically relevant. Assuming that these diseases are genetically controlled, we hypothesized that retreat from optimal homozygosity level, as well as a changed variability among the patients, could be the populationgenetic parameter for prediction of illness. We performed a homozygous-recessive-characters (HRCs) test based analysis of the presence, distribution and individual combination of 23 selected genetically-controlled morpho-physiological traits in groups of LC patients, patients with pulmonary TB and healthy control subjects. This study showed: i) a statistically significant difference of the middle values of genetic homozygosity between both patients groups and the control group, ii) differences in the type of distribution, and iii) differences in the presence of certain individual combinations of such traits. The frequency of blood group O was significantly decreased in the TB group compared to the general population. According to their population-genetic structure, LC patients, TB patients and healthy controls represent three different groups. The retreat from optimal homozygosity level towards decrease that we found in both LC and TB patients support the influence of a dominant factor in development of these diseases.

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Vitamin D Treatment in Patients with Hashimoto’s Thyroiditis may Decrease the Development of Hypothyroidism

International Journal for Vitamin and Nutrition Research ◽

10.1024/0300-9831/a000269 ◽

2016 ◽

Vol 86 (1-2) ◽

pp. 9-17 ◽

Cited By ~ 3

Author(s):

Bekir Ucan ◽

Mustafa Sahin ◽

Muyesser Sayki Arslan ◽

Nujen Colak Bozkurt ◽

Muhammed Kizilgul ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Deficiency ◽

Hashimoto’S Thyroiditis ◽

Healthy Control Group ◽

Hashimoto's Thyroiditis ◽

Control Group ◽

Endocrine Society ◽

Thyroid Autoantibody ◽

Healthy Control ◽

The Mean

Abstract.The relationship between Hashimoto’s thyroiditis and vitamin D has been demonstrated in several studies. The aim of the present study was to evaluate vitamin D concentrations in patients with Hashimoto’s thyroiditis, the effect of vitamin D therapy on the course of disease, and to determine changes in thyroid autoantibody status and cardiovascular risk after vitamin D therapy. We included 75 patients with Hashimoto’s thyroiditis and 43 healthy individuals. Vitamin D deficiency is defined as a 25-hydroxy vitamin D (25(OH)D3) concentration less than 20ng/mL. Vitamin D deficient patients were given 50.000 units of 25(OH)D3 weekly for eight weeks in accordance with the Endocrine Society guidelines. All evaluations were repeated after 2 months of treatment. Patients with Hashimoto’s thyroiditis had significantly lower vitamin D concentrations compared with the controls (9.37±0.69 ng/mL vs 11.95±1.01 ng/mL, p < 0.05, respectively). Thyroid autoantibodies were significantly decreased by vitamin D replacement treatment in patients with euthyroid Hashimoto’s thyroiditis. Also, HDL cholesterol concentrations improved in the euthyroid Hashimoto group after treatment. The mean free thyroxine (fT4) concentrations were 0.89±0.02 ng/dL in patients with Hashimoto’s thyroiditis and 1.07±0.03 ng/dL in the healthy control group (p < 0.001). The mean thyroid volumes were 7.71±0.44 mL in patients with Hashimoto’s thyroiditis and 5.46±0.63 mL in the healthy control group (p < 0.01). Vitamin D deficiency is frequent in Hashimoto’s thyroiditis and treatment of patients with this condition with Vitamin D may slow down the course of development of hypothyroidism and also decrease cardiovascular risks in these patients. Vitamin D measurement and replacement may be critical in these patients.

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