Diagnostics

Research

12 pages, 993 KiB

Open AccessArticle

The Impact of ACE Gene Variants on Acute-Phase Reactants in Children with Rheumatic Heart Disease

by Abdulhadi H. Almazroea, Sondos Yousef, Salma M. S. Ahmad, Hanin N. AlHiraky, Amal Al-Haidose and Atiyeh M. Abdallah

Diagnostics 2023, 13(10), 1672; https://doi.org/10.3390/diagnostics13101672 - 9 May 2023

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Abstract

Rheumatic heart disease (RHD) is the most important sequela of upper respiratory group A Streptococcus (GAS) infection. The role of the common angiotensin-converting enzyme (ACE) insertion/deletion (I/D) variant in the disease and its subtypes remains uncertain. The acute-phase reactants (APRs) C-reactive [...] Read more.

Rheumatic heart disease (RHD) is the most important sequela of upper respiratory group A Streptococcus (GAS) infection. The role of the common angiotensin-converting enzyme (ACE) insertion/deletion (I/D) variant in the disease and its subtypes remains uncertain. The acute-phase reactants (APRs) C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) form part of the Jones criteria for diagnosing RHD, and genetic factors are known to influence baseline CRP and ESR levels. Therefore, here, we investigated the relationship between the ACE I/D polymorphism and APR levels in RHD. A total of 268 individuals were recruited, including 123 RHD patients and 198 healthy controls. There was a trend toward a higher D allele frequency in RHD patients. The ACE I/D polymorphism genotype frequency and DD+ID allelic carriage were significantly associated with a high APR level (p = 0.04 and p = 0.02, respectively). These results highlight the importance of ACE I/D polymorphisms in RHD for disease stratification, but not for disease predisposition. Further studies in larger cohorts and different populations are now required to confirm this association and to explore the mechanism of this effect. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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11 pages, 836 KiB

Open AccessArticle

Salivary Flow Rate and Oral Status in Patients with Primary Sjögren’s Syndrome and Diffuse Cutaneous Systemic Sclerosis: A Cross-Sectional Study

by Ana Glavina, Ivona Božić, Katica Parat, Dijana Perković, Dolores Biočina-Lukenda, Dušanka Martinović Kaliterna and Mislav Radić

Diagnostics 2023, 13(6), 1057; https://doi.org/10.3390/diagnostics13061057 - 10 Mar 2023

Cited by 1 | Viewed by 1878

Abstract

Determination of salivary flow rate and oral status in patients with primary Sjögren’s Syndrome (pSS) and diffuse cutaneous systemic sclerosis (dcSSc) and comparison with control subjects. Thirty-one pSS patients, 28 dcSSc patients, and 28 control subjects participated in this single-center, cross-sectional study. Unstimulated [...] Read more.

Determination of salivary flow rate and oral status in patients with primary Sjögren’s Syndrome (pSS) and diffuse cutaneous systemic sclerosis (dcSSc) and comparison with control subjects. Thirty-one pSS patients, 28 dcSSc patients, and 28 control subjects participated in this single-center, cross-sectional study. Unstimulated whole salivary flow rate (UWSFR) and stimulated whole salivary flow rate (SWSFR), salivary pH, DMFT index (D—decayed, M—missing, F—filled tooth), periodontal pocket depth (PPD), clinical attachment level (CAL), interincisal distance, and OHRQoL (oral health-related quality of life) were analyzed in all three groups of subjects. Primary SS and dcSSc patients had statistically significant lower values of UWSFR (0.20; 0.38 vs. 0.91 mL/min) and SWSFR (0.56; 0.70 vs. 1.64 mL/min) compared with control subjects (p < 0.001, Kruskal-Wallis test). Salivary pH values were statistically significantly lower in pSS and dcSSc patients compared with control subjects (6.00; 6.25 vs. 7.00, respectively) (p < 0.001, Kruskal-Wallis test). The DMFT index of dcSSc patients was higher (28.50) and statistically significant compared to control subjects (20.00) (p = 0.01). The prevalence of periodontitis was the same in pSS and dcSSc patients and control subjects (p = 0.384). Primary SS and dcSSc patients had a statistically significant decreased interincisal distance compared to control subjects (43.80; 38.00 vs. 48.00) (p = 0.003 and p < 0.001, respectively). Primary SS and dcSSc patients show decreased UWSFR and SWSFR, salivary pH values closer to an acidic medium, higher DMFT index, higher prevalence of periodontitis, decreased interincisal distance, and poorer OHRQoL, i.e., poor oral and periodontal health. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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13 pages, 1288 KiB

Open AccessArticle

Analysis of PTPN22 −1123 G>C, +788 G>A and +1858 C>T Polymorphisms in Patients with Primary Sjögren’s Syndrome

by Paula Annahi Menchaca-Tapia, Miguel Marín-Rosales, Diana Celeste Salazar-Camarena, Alvaro Cruz, Edith Oregon-Romero, Raziel Tapia-Llanos, José Francisco Muñoz-Valle and Claudia Azucena Palafox-Sánchez

Diagnostics 2023, 13(5), 899; https://doi.org/10.3390/diagnostics13050899 - 27 Feb 2023

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Abstract

Background: Primary Sjögren’s syndrome (pSS) is an autoimmune exocrinopathy characterized by lymphocytic infiltration, glandular dysfunction and systemic manifestations. Lyp protein is a negative regulator of the T cell receptor encoded by the tyrosine phosphatase nonreceptor-type 22 (PTPN22) gene. Multiple single-nucleotide polymorphisms [...] Read more.

Background: Primary Sjögren’s syndrome (pSS) is an autoimmune exocrinopathy characterized by lymphocytic infiltration, glandular dysfunction and systemic manifestations. Lyp protein is a negative regulator of the T cell receptor encoded by the tyrosine phosphatase nonreceptor-type 22 (PTPN22) gene. Multiple single-nucleotide polymorphisms (SNPs) in the PTPN22 gene have been associated with susceptibility to autoimmune diseases. This study aimed to investigate the association of PTPN22 SNPs rs2488457 (−1123 G>C), rs33996649 (+788 G>A), rs2476601 (+1858 C>T) with pSS susceptibility in Mexican mestizo subjects. Methods: One hundred fifty pSS patients and 180 healthy controls (HCs) were included. Genotypes of PTPN22 SNPs were identified by PCR-RFLP. PTPN22 expression was evaluated through RT–PCR analysis. Serum anti-SSA/Ro and anti-SSB/La levels were measured using an ELISA kit. Results: Allele and genotype frequencies for all SNPs studied were similar in both groups (p > 0.05). pSS patients showed 17-fold higher expression of PTNP22 than HCs, and mRNA levels correlated with SSDAI score (r² = 0.499, p = 0.008) and levels of anti-SSA/Ro and anti-SSB/La autoantibodies (r² = 0.200, p = 0.03 and r² = 0.175, p = 0.04, respectively). Positive anti-SSA/Ro pSS patients expressed higher PTPN22 mRNA levels (p = 0.008), with high focus scores by histopathology (p = 0.02). Moreover, PTPN22 expression had high diagnostic accuracy in pSS patients, with an AUC = 0.985. Conclusions: Our findings demonstrate that the PTPN22 SNPs rs2488457 (−1123 G>C), rs33996649 (+788 G>A) and rs2476601 (+1858 C>T) are not associated with the disease susceptibility in the western Mexican population. Additionally, PTPN22 expression may be helpful as a diagnostic biomarker in pSS. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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10 pages, 991 KiB

Open AccessArticle

NLRP3 Gene Polymorphisms in Rheumatoid Arthritis and Primary Sjogren’s Syndrome Patients

by Ruei-Nian Li, Tsan-Teng Ou, Chia-Hui Lin, Yuan-Zhao Lin, Tzu-Jung Fang, Yi-Jing Chen, Chia-Chun Tseng, Wan-Yu Sung, Cheng-Chin Wu and Jeng-Hsien Yen

Diagnostics 2023, 13(2), 206; https://doi.org/10.3390/diagnostics13020206 - 5 Jan 2023

Cited by 8 | Viewed by 1576

Abstract

Aim: The activation of NLRP3 inflammasome leads to the stimulation of cytokines and is significantly involved in the pathogenesis and progression of autoimmune diseases. The purpose of this study is to examine the associations of NLRP3 gene polymorphisms with rheumatoid arthritis (RA) and [...] Read more.

Aim: The activation of NLRP3 inflammasome leads to the stimulation of cytokines and is significantly involved in the pathogenesis and progression of autoimmune diseases. The purpose of this study is to examine the associations of NLRP3 gene polymorphisms with rheumatoid arthritis (RA) and primary Sjogren’s syndrome (SS) patients. Methods: A total of 239 patients with RA, 285 patients with primary SS, and 170 healthy controls were enrolled. Genomic DNA was extracted from peripheral blood mononuclear cells, and gene polymorphisms were genotyped through the TaqMan assay. Antinuclear antibody (ANA), anti-Ro, and anti-CCP antibodies were detected using immunofluorescence immunoassay. Results: The T allele of rs4612666 CT elevated the susceptibility to RA disease. The RF titer during diagnosis of RA was significantly high in RA patients with the A allele of rs12079994 G/A polymorphism. The titer of anti-CCP during diagnosis of RA was high in the absence of the C allele of rs10754558 C/G polymorphisms in RA patients. Antinuclear antibody and anti-CCP were positively associated with the A allele of rs12079994 G/A polymorphism in primary SS. The C allele of rs4612666 C/T was negatively associated with ANA in primary SS. Conclusions: The results have shown that NLRP3 gene polymorphisms may play a role in the pathogenesis of RA and primary SS. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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12 pages, 1871 KiB

Open AccessArticle

Altered PTPN22 and IL10 mRNA Expression Is Associated with Disease Activity and Renal Involvement in Systemic Lupus Erythematosus

by Ilce Valeria Román-Fernández, Jesús René Machado-Contreras, José Francisco Muñoz-Valle, Alvaro Cruz, Diana Celeste Salazar-Camarena and Claudia Azucena Palafox-Sánchez

Diagnostics 2022, 12(11), 2859; https://doi.org/10.3390/diagnostics12112859 - 18 Nov 2022

Cited by 6 | Viewed by 1552

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with very heterogeneous clinical behavior between affected individuals. Therefore, the search for biomarkers clinically useful for the diagnosis, prognosis, and monitoring of the disease is necessary. Here, we determined the association between PTPN22, [...] Read more.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with very heterogeneous clinical behavior between affected individuals. Therefore, the search for biomarkers clinically useful for the diagnosis, prognosis, and monitoring of the disease is necessary. Here, we determined the association between PTPN22, IL10, OAS2, and CD70 mRNA expression with the clinical characteristics and with the serum levels of IL-10, IFN-γ, and IL-17 in SLE patients. Forty patients with SLE and 34 control subjects (CS) were included, mRNA expression was determined by real-time qPCR and cytokine levels were quantified by a multiplex bead-based immunoassay. Compared to CS, SLE patients showed increased IL10 mRNA and high IL-10 and IL-17 serum levels; in contrast, PTPN22 mRNA and IFN-γ were decreased. PTPN22 and IL10 gene expression was negatively correlated with Mex-SLEDAI score and were notably downregulated in SLE patients with lupus nephritis. Interestingly, SLE patients with renal damage were the ones with the lowest levels of PTPN22 and IL10 mRNA and the highest SLEDAI scores. No associations were observed for OAS2 and CD70 mRNA and IL-10, IL-17, and IFN-γ. In conclusion, we suggest that the assessment of IL10 and PTPN22 mRNA could be useful for monitoring disease activity in SLE patients showing renal involvement. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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10 pages, 784 KiB

Open AccessArticle

Analysis of Ana/Dfs70 Pattern in a Large Cohort of Autoimmune/Autoinflammatory Diseases Compared with First Degree Relatives and Healthy Controls Evaluated from Colombia

by Consuelo Romero-Sánchez, Omar-Javier Calixto, Veronica Romero-Alvarez, Alejandra Vargas-Martin, Luis Castro, Julio Amador, Daniela Marín-Acevedo, Mónica Acevedo-Godoy, Diana Rincón-Riaño and Juan Manuel Bello-Gualtero

Diagnostics 2022, 12(9), 2181; https://doi.org/10.3390/diagnostics12092181 - 9 Sep 2022

Cited by 2 | Viewed by 2437

Abstract

Background: The presence of Antinuclear antibodies/Dense Fine Speckled 70 (ANA/DFS70) has been proposed as a negative biomarker in the process of exclusion of systemic autoimmune/autoinflammatory rheumatic diseases (SARD). The purpose was to evaluate and characterize ANA/DFS70 patients in a large Colombian population with [...] Read more.

Background: The presence of Antinuclear antibodies/Dense Fine Speckled 70 (ANA/DFS70) has been proposed as a negative biomarker in the process of exclusion of systemic autoimmune/autoinflammatory rheumatic diseases (SARD). The purpose was to evaluate and characterize ANA/DFS70 patients in a large Colombian population with SARD; rheumatoid arthritis (RA), Psoriasis (PsO), Undifferentiated connective tissue disease (UCTD), first-degree relatives of (FDR), and healthy controls (HC). Methods: ANA determination was performed using indirect immunofluorescence. Samples with positive dense fine granular staining in the nucleoplasm of the interphase cell (AC2) fluorescence were confirmed with CytoBead/ANA and ANA/modified (Knocked out for the PSPI1 gen). Results: 530 mestizo Colombian participants were included. ANA/DFS70 antibody positivity in the whole group was 2.3%, and 0.8% in SARD; no RA patients were positive. ANA/DFS70 positives in UCTD were three women; the average time of evolution of the disease was 9.4 years. The most frequent clinical findings were arthralgias, non-erosive arthritis, and Raynaud’s phenomenon. The PsO positive was a woman with C-reactive protein (CRP) positivity and a negative erythrocyte sedimentation rate (ESR) without any other positive autoantibody or extracutaneous manifestation. FDR and HC positives were 7/8 women. All were negative for other autoantibodies. Conclusions: ANA/DFS70 autoantibodies were present in Colombian patients with SARD at a shallow frequency, they were more prevalent in healthy individuals. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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Review

Jump to: Research, Other

14 pages, 579 KiB

Open AccessReview

Lung Involvement in Systemic Juvenile Idiopathic Arthritis: A Narrative Review

by Duilio Petrongari, Paola Di Filippo, Francesco Misticoni, Giulia Basile, Sabrina Di Pillo, Francesco Chiarelli and Marina Attanasi

Diagnostics 2022, 12(12), 3095; https://doi.org/10.3390/diagnostics12123095 - 8 Dec 2022

Cited by 6 | Viewed by 3396

Abstract

Systemic juvenile idiopathic arthritis associated with lung disorders (sJIA-LD) is a subtype of sJIA characterized by the presence of chronic life-threatening pulmonary disorders, such as pulmonary hypertension, interstitial lung disease, pulmonary alveolar proteinosis and/or endogenous lipoid pneumonia, which were exceptionally rare before 2013. [...] Read more.

Systemic juvenile idiopathic arthritis associated with lung disorders (sJIA-LD) is a subtype of sJIA characterized by the presence of chronic life-threatening pulmonary disorders, such as pulmonary hypertension, interstitial lung disease, pulmonary alveolar proteinosis and/or endogenous lipoid pneumonia, which were exceptionally rare before 2013. Clinically, these children show a striking dissociation between the relatively mild clinical manifestations (tachypnoea, clubbing and chronic cough) and the severity of the pulmonary inflammatory process. Our review describes sJIA-LD as having a reported prevalence of approximately 6.8%, with a mortality rate of between 37% and 68%. It is often associated with an early onset (<2 years of age), macrophage activation syndrome and high interleukin (IL)-18 circulating levels. Other risk factors may be trisomy 21 and a predisposition to adverse reactions to biological drugs. The most popular hypothesis is that the increase in the number of sJIA-LD cases can be attributed to the increased use of IL-1 and IL-6 blockers. Two possible explanations have been proposed, named the “DRESS hypothesis” and the “cytokine plasticity hypothesis”. Lung ultrasounds and the intercellular-adhesion-molecule-5 assay seem to be promising tools for the early diagnosis of sJIA-LD, although high resolution computed tomography remains the gold standard. In this review, we also summarize the treatment options for sJIA-LD, focusing on JAK inhibitors. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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Other

Jump to: Research, Review

10 pages, 661 KiB

Open AccessSystematic Review

The Role of TAR DNA Binding Protein 43 (TDP-43) as a CandiDate Biomarker of Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis

by Caterina Maria Gambino, Anna Maria Ciaccio, Bruna Lo Sasso, Rosaria Vincenza Giglio, Matteo Vidali, Luisa Agnello and Marcello Ciaccio

Diagnostics 2023, 13(3), 416; https://doi.org/10.3390/diagnostics13030416 - 23 Jan 2023

Cited by 4 | Viewed by 2222

Abstract

Background: TAR DNA-binding protein 43 (TDP-43) aggregation in neuronal cells is recognized as a hallmark of amyotrophic lateral sclerosis (ALS). Although the literature strongly supports the pathogenetic role of TDP-43 in ALS pathogenesis, the role of TDP-43 as a biomarker of ALS is [...] Read more.

Background: TAR DNA-binding protein 43 (TDP-43) aggregation in neuronal cells is recognized as a hallmark of amyotrophic lateral sclerosis (ALS). Although the literature strongly supports the pathogenetic role of TDP-43 in ALS pathogenesis, the role of TDP-43 as a biomarker of ALS is controversial. We performed a systematic review and meta-analysis to assess the diagnostic performance of TDP-43 for ALS. Methods: Relevant publications were identified by a systematic literature search on PubMed and Web of Science from their inception to 8 April 2022. Results: Seven studies, including 472 individuals, of whom 254 had ALS according to the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, met the inclusion criteria for our meta-analysis. According to the random-effects model, CSF TDP-43 levels are higher in ALS patients compared with control groups. Conclusions: CSF TDP-43 could represent a biomarker of ALS, but further studies are mandatory before drawing conclusions. Full article

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)

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