Psoriatic Spondylitis: A Disease Manifestation in Debate

2022 ◽  
Vol 28 (1) ◽  
pp. 38-43
Author(s):  
Henning K. Zeidler
Keyword(s):  
Disease Manifestation

scholarly journals AB0676 THE ROLE OF ACPA AND ANA IN SPONDYLOARTHRITIS: HOW THE AUTOIMMUNE DYSREGULATION CAN AFFECT THE COURSE OF DISEASE AND THERAPEUTIC SUCCESS OF MONOTHERAPY DMARDS AND bDMARDs

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1633.1-1633
Author(s):  
D. Cici ◽  
C. Rotondo ◽  
A. Corrado ◽  
S. Berardi ◽  
N. Mansueto ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Start Time ◽  
Disease Manifestation ◽  
Therapeutic Success ◽  
Course Of Disease ◽  
Drug Survival ◽  
Comorbidity Index ◽  
Citrullinated Protein ◽  
Axial Involvement

Background:Occasional findings of anti-citrullinated-protein-antibodies (ACPA) and anti-nuclear-antibodies (ANA) were rarely described in literature on Psoriatic Arthritis (PsA) and on Spondyloarthritis (SpA) in general. How these autoimmune dysregulations can affect the course of them is not yet understood.Objectives:The aim of our study is to evaluate if the presence of ACPA and ANA can determine different disease subsets and influence the DMARDs monotherapy (methotrexate) drug survival (DSM) and b-DMARDs multi-failure patients (MF).Methods:We conducted a retrospective study on patients with Psoriatic Arthritis (PsA) and Spondyloarthritis that fulfilled the ASAS and CASPAR criteria. Patients with diagnosis of connective tissue disease and rheumatoid arthritis and patients ≤ 18 years old were excluded from the study. For each patient, the following variables were considered: age, ACPA, ANA, time between arthritis onset and start of DMARDs (start-time), DSM, switch to b-DMARDs (sw-bDMARDs), arthritis subset (oligoarticular (OA), polyarticular (PA), enthesitis (EA), axial involvement (AI)), number of comorbidities (NC), Charlson Comorbidity Index (CCI).Results:150 patients (55% with PsA and 45% with another SpA) were included in the study. No differences were found in age, ANA rate, ACPA rate, start-time, OA, PA, EA, AI, NC and CCI between the PsA and SpA groups.In the whole group of patients, the ACPA+ subjects(11%) had a significant increase of NC (2.47 ± 1.5 vs 1.6 ± 1.4, p=0.035), a trend to higher CCI, to switch to b-DMARDs, and to be MF compared to those without ACPA. In the same group, the ANA+ patients (12%) showed shorter DSM (233.5 wk ± 45.9 vs 548.0 wk ± 56.8, p=0.362) with similar trend in each subgroup (PsA and SpA).In SpA group, the ACPA+ patients(6,3%) had a trend to shorter DSM (269.0 weeks ± 125vs 603.96 wk± 92.8, p=0.492),to higher sw-bDMARDs, and to be MF, higher NC and CCI compared to those without ACPA. No differences in clinical subset (OA, PA, EA, AI) were observed. In the same group the ANA+ patients had significant higher rate of PA (100% vs 65%, p=0.026) rather than OA (0% vs 35%, p=0.025). No significant differences were found in NC, CCI, MF.In the PsA group, ACPA+ patients showed a trend to develop PA and EA subsets, shorter DSM (187.5 wk ± 48.7 vs 299.6 wk ± 31.4, p=0.415), higher rate to sw-bDMARDs and to be MF. The ANA+ PsA patients had higher trend to develop PA and AI subsets rather than OA and EA. All ANA+ patients were MF (100% vs 42%, p=0.046).Conclusion:The ACPA and ANA positivity in PsA and SpA patients could be suggestive of more severe clinical disease manifestation, higher frequency of comorbidities and lower predicted 10-year survival (CCI). Moreover, this autoimmune dysregulation could be associated with worse drug survival in monotherapy with methotrexate and higher chance to be MF. Therefore, they can be taken into account for clinical management of these patients.Disclosure of Interests:None declared

scholarly journals Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yong-Fei Wang ◽  
Yan Zhang ◽  
Zhiming Lin ◽  
Huoru Zhang ◽  
Ting-You Wang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Genome Wide Association Study ◽  
Age Of Onset ◽  
Treatment Options ◽  
Human Leukocyte ◽  
Risk Scores ◽  
Systemic Lupus ◽  
Disease Manifestation ◽  
A Genome

AbstractSystemic lupus erythematosus (SLE), a worldwide autoimmune disease with high heritability, shows differences in prevalence, severity and age of onset among different ancestral groups. Previous genetic studies have focused more on European populations, which appear to be the least affected. Consequently, the genetic variations that underlie the commonalities, differences and treatment options in SLE among ancestral groups have not been well elucidated. To address this, we undertake a genome-wide association study, increasing the sample size of Chinese populations to the level of existing European studies. Thirty-eight novel SLE-associated loci and incomplete sharing of genetic architecture are identified. In addition to the human leukocyte antigen (HLA) region, nine disease loci show clear ancestral differences and implicate antibody production as a potential mechanism for differences in disease manifestation. Polygenic risk scores perform significantly better when trained on ancestry-matched data sets. These analyses help to reveal the genetic basis for disparities in SLE among ancestral groups.

scholarly journals Oral Microbiota Identifies Patients in Early Onset Rheumatoid Arthritis

2021 ◽  
Vol 9 (8) ◽  
pp. 1657
Author(s):  
Anders Esberg ◽  
Linda Johansson ◽  
Ingegerd Johansson ◽  
Solbritt Rantapää Dahlqvist
Keyword(s):  
Rheumatoid Arthritis ◽  
Early Onset ◽  
Amplicon Sequencing ◽  
Oral Bacteria ◽  
Oral Microbiome ◽  
Rrna Gene ◽  
Oral Microbiota ◽  
Disease Manifestation ◽  
Periodontal Status ◽  
Quality Register

Rheumatoid arthritis (RA) is the most common autoimmune inflammatory disease, and single periodontitis-associated bacteria have been suggested in disease manifestation. Here, the oral microbiota was characterized in relation to the early onset of RA (eRA) taking periodontal status into consideration. 16S rRNA gene amplicon sequencing of saliva bacterial DNA from 61 eRA patients without disease-modifying anti-rheumatic drugs and 59 matched controls was performed. Taxonomic classification at 98.5% was conducted against the Human Oral Microbiome Database, microbiota functions were predicted using PICRUSt, and periodontal status linked from the Swedish quality register for clinically assessed caries and periodontitis. The participants were classified into three distinct microbiota-based cluster groups with cluster allocation differences by eRA status. Independently of periodontal status, eRA patients had enriched levels of Prevotella pleuritidis, Treponema denticola, Porphyromonas endodontalis and Filifactor alocis species and in the Porphyromonas and Fusobacterium genera and functions linked to ornithine metabolism, glucosylceramidase, beta-lactamase resistance, biphenyl degradation, fatty acid metabolism and 17-beta-estradiol-17-dehydrogenase metabolism. The results support a deviating oral microbiota composition already in eRA patients compared with healthy controls and highlight a panel of oral bacteria that may be useful in eRA risk assessment in both periodontally healthy and diseased persons.

scholarly journals Women’s Cardiac Health in 2020: A Systematic Review

2020 ◽  
Vol 4 (02) ◽  
pp. 104-110
Author(s):  
Fabiola B. Sozzi ◽  
Marta Belmonte ◽  
Marco Schiavone ◽  
Ciro Canetta ◽  
Rakesh Gupta ◽  
...  
Keyword(s):  
Risk Factors ◽  
Heart Disease ◽  
Cardiovascular Health ◽  
The Novel ◽  
Cvd Risk ◽  
Disease Manifestation ◽  
Substantial Progress ◽  
Diagnostic Approaches ◽  
Traditional Risk Factors ◽  
Gender Specific

AbstractAlthough substantial progress has been made toward improving gender- and sex-specific cardiovascular disease (CVD) management and outcomes, contemporary reports indicate a persistent knowledge gap with regard to optimal risk-stratification and management in female cardiac heart disease (CHD) patients. Prominent patient and system delays in diagnosing CHD are, in part, due to the limited awareness for the latent CVD risk in women, a lack of sex-specific thresholds within clinical guidelines, and subsequent limited performance of contemporary diagnostic approaches in women. Several traditional risk factors for CHD affect both women and men. But other factors can play a bigger role in the development of heart disease in women. In addition, little is known about the influence of socioenvironmental and contextual factors on gender-specific disease manifestation and outcomes. It is imperative that we understand the mechanisms that contribute to worsening risk factors profiles in young women to reduce future atherosclerotic CVD morbidity and mortality. This comprehensive review focuses on the novel aspects of cardiovascular health in women and sex differences as they relate to clinical practice and prevention, diagnosis, and treatment of CVD. Increased recognition of the prevalence of traditional cardiovascular risk factors and their differential impact in women, as well as emerging nontraditional risk factors unique to or more common in women, contribute to new understanding mechanisms, leading to worsening outcome for women.

scholarly journals Differential Diagnosis of Chorea—HIV Infection Delays Diagnosis of Huntington’s Disease by Years

2021 ◽  
Vol 11 (6) ◽  
pp. 710
Author(s):  
Jannis Achenbach ◽  
Simon Faissner ◽  
Carsten Saft
Keyword(s):  
Hiv Infection ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Depression Scale ◽  
Cag Repeat ◽  
Psychiatric Disease ◽  
Disease Manifestation ◽  
Cross Sectional

Background: There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington’s disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. Methods: First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. Results: The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of n = 21,116 participants in ENROLL-HD, we identified n = 10,125 motor-manifest HD patients. n = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to n = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger (p < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD (p < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all p < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all p < 0.05). Conclusions: The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.

scholarly journals SARS-CoV-2-associated gastrointestinal and liver diseases: what is known and what is needed to explore

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Dina Sweed ◽  
Eman Abdelsameea ◽  
Esraa A. Khalifa ◽  
Heba Abdallah ◽  
Heba Moaz ◽  
...  
Keyword(s):  
English Language ◽  
Data Extraction ◽  
Oral Route ◽  
Main Body ◽  
Disease Manifestation ◽  
Gi Symptoms ◽  
Septic Focus ◽  
Pubmed Search ◽  
Risk Patients ◽  
Respiratory Droplets

Abstract Background The pandemic of COVID19 which is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first described in China as an unexplained pneumonia transmitted by respiratory droplets. Gastrointestinal (GI) and liver injury associated with SARS-CoV-2 infection were reported as an early or sole disease manifestation, mainly outside China. The exact mechanism and incidence of GI and liver involvement are not well elucidated. Main body We conducted a PubMed search for all articles written in the English language about SARS-CoV-2 affecting the GI and liver. Following data extraction, 590 articles were selected. In addition to respiratory droplets, SARS-CoV-2 may reach the GI system through the fecal-oral route, saliva, and swallowing of nasopharyngeal fluids, while breastmilk and blood transmission were not implicated. Moreover, GI infection may act as a septic focus for viral persistence and transmission to the liver, appendix, and brain. In addition to the direct viral cytopathic effect, the mechanism of injury is multifactorial and is related to genetic and demographic variations. The most frequently reported GI symptoms are diarrhea, nausea, vomiting, abdominal pain, and bleeding. However, liver infection is generally discovered during laboratory testing or a post-mortem. Radiological imaging is the gold standard in diagnosing COVID-19 patients and contributes to understanding the mechanism of extra-thoracic involvement. Medications should be prescribed with caution, especially in chronic GI and liver patients. Conclusion GI manifestations are common in COVID-19 patients. Special care should be paid for high-risk patients, older males, and those with background liver disease.

scholarly journals Increased levels of pentraxins protein and cytokines bear good association in patients with severe dengue infection

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Goutam Patra ◽  
Bibhuti Saha ◽  
Sumi Mukhopadhyay
Keyword(s):  
Dengue Infection ◽  
Clinical Manifestations ◽  
Blood Parameters ◽  
Warning Signs ◽  
Severe Dengue ◽  
Disease Manifestation ◽  
Mild Disease ◽  
Tnf Α ◽  
The Status ◽  
The Tropics

AbstractDengue is an arboviral infection with high rates of morbidity and mortality throughout the tropics and sub-tropics. This work studied the status of pentraxin (CRP/SAP) protein, ferritin, TNF-α and IL-1β levels in Dengue patients of different pathophysiological manifestations. Accordingly, clinically confirmed Dengue cases (n = 97) were enrolled and subsequently blood parameters were studied by Haematology cell counter and Biochemistry Autoanalyser. CRP, SAP, ferritin, TNF-α and IL-1β ELISA were done in all the samples by using standard ELISA kits. Statistical Analysis was done in all the experiments. The levels of CRP (p < 0.0001), SAP (p < 0.0001), ferritin (p < 0.0001), TNF-α (p < 0.0001) and IL-1β (p < 0.0001) were high in patients with Severe Dengue as compared to Dengue without warning signs. High levels of SGOT, SGPT and decreased platelet counts were found in severe patients as compared to Healthy donor. CRP/SAP as well as TNF-α/IL-1β were independently associated with both dengue severity and overall disease manifestation. Statistically significant increased CRP, SAP, ferritin, TNF-α and IL-1β titres were correlated in patients with severe clinical manifestations as compared to mild disease forms of dengue. Elevated levels of pentraxin, TNF-α/IL-1β in blood during dengue infection could act as an early predictor in Severe Dengue infection.

scholarly journals Altered Electrical, Biomolecular, and Immunologic Phenotypes in a Novel Patient-Derived Stem Cell Model of Desmoglein-2 Mutant ARVC

2021 ◽  
Vol 10 (14) ◽  
pp. 3061
Author(s):  
Robert N. Hawthorne ◽  
Adriana Blazeski ◽  
Justin Lowenthal ◽  
Suraj Kannan ◽  
Roald Teuben ◽  
...  
Keyword(s):  
Stem Cell ◽  
Structural Changes ◽  
Cell Model ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Induced Pluripotent Stem Cell ◽  
Cytokine Expression ◽  
Calcium Handling ◽  
Disease Manifestation ◽  
Time To Peak ◽  
Induced Pluripotent

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive heart condition which causes fibro-fatty myocardial scarring, ventricular arrhythmias, and sudden cardiac death. Most cases of ARVC can be linked to pathogenic mutations in the cardiac desmosome, but the pathophysiology is not well understood, particularly in early phases when arrhythmias can develop prior to structural changes. Here, we created a novel human induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) model of ARVC from a patient with a c.2358delA variant in desmoglein-2 (DSG2). These DSG2-mutant (DSG2Mut) hiPSC-CMs were compared against two wildtype hiPSC-CM lines via immunostaining, RT-qPCR, Western blot, RNA-Seq, cytokine expression and optical mapping. Mutant cells expressed reduced DSG2 mRNA and had altered localization of desmoglein-2 protein alongside thinner, more disorganized myofibrils. No major changes in other desmosomal proteins were noted. There was increased pro-inflammatory cytokine expression that may be linked to canonical and non-canonical NFκB signaling. Action potentials in DSG2Mut CMs were shorter with increased upstroke heterogeneity, while time-to-peak calcium and calcium decay rate were reduced. These were accompanied by changes in ion channel and calcium handling gene expression. Lastly, suppressing DSG2 in control lines via siRNA allowed partial recapitulation of electrical anomalies noted in DSG2Mut cells. In conclusion, the aberrant cytoskeletal organization, cytokine expression, and electrophysiology found DSG2Mut hiPSC-CMs could underlie early mechanisms of disease manifestation in ARVC patients.

Hyperprolactinemia in Sjogren’s syndrome: a patient subset or a disease manifestation?

2004 ◽  
Vol 71 (3) ◽  
pp. 203-208 ◽  
Author(s):  
Yasser M. El Miedany ◽  
Ihab Ahmed ◽  
Hossam Moustafa ◽  
Mohammed El Baddini
Keyword(s):  
Sjögren’S Syndrome ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Disease Manifestation ◽  
Sjögren‘S Syndrome

scholarly journals Allergic Food Sensitization and Disease Manifestation in the Fetus and Infant: A Perspective

Allergies ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 115-122
Author(s):  
Russell J. Hopp ◽  
Peggy Salazar ◽  
Muhammad Asghar Pasha
Keyword(s):  
Allergic Disease ◽  
First Year ◽  
Disease Manifestation ◽  
Young Infants ◽  
Wait And See ◽  
First Year Of Life ◽  
Food Sensitization

Even though allergic disease is identified in the first year of life, it is often in a less forward fashion, with elements of a wait and see approach. If the infant does not have an anaphylactic food reaction, other less dramatic allergic phenomenon is often under-emphasized, waiting for additional concerns. We approached this with a conception to first conduct birthday surveys, attempting to link intrauterine and peri-birth circumstances to affect better allergy recognition in young infants.

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