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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...

The objective was to describe the clinical characteristics and the frequency of the ANA/DFS70 autoantibodies in patients affected by undifferentiated connective tissue disease (UCTD) in a tertiary hospital in Colombia. This descriptive cross-sectional study enrolled patients who fulfilled the classification criteria for UCTD. ANAHEp- 2 test and the modified assay for ANA/DFS70 autoantibodies were performed through the indirect immunofluorescence technique. Erythrocyte sedimentation rate, C-reactive protein, rheumatoid factor, and the antibodies to anti-extractable nuclear antigens, DNA, phospholipids (IgG, IgM, IgA), and cyclic citrullinated peptide were also evaluated...

OBJECTIVE: To help identify homogeneous subgroups among patients with anti-polymyositis-scleroderma-antibodies (PM-Scl-Abs) positive auto-immune diseases regardless of diagnostic classifications. METHODS: This multicentric (four hospitals) retrospective study collected all consecutive patients (from 2011 to 2021) with positive testing for anti-PM-Scl-Abs in a context of connective tissue disease. Subgroups of patients with similar clinico-biological phenotypes were defined using unsupervised multiple correspondence analysis and hierarchical clustering analysis of the features recorded in the first year of follow-up...

PURPOSE: Undifferentiated connective tissue disease (UCTD) encapsulates a broad range of conditions including incomplete forms of systemic lupus erythematosus (SLE) and systemic sclerosis (SSc), some of whom progress to a formal clinical diagnosis over time. This systematic review (SR) and meta-analysis aimed to identify clinical and laboratory features and biomarkers that can predict progression of UCTD. METHODS: A systematic literature search was carried out on MEDLINE, EMBASE and the Cochrane Central Register of Randomized Controlled Trials...

OBJECTIVES: Anti-Ro autoantibodies are among the most frequently detected extractable nuclear antigen autoantibodies, mainly associated with primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE) and undifferentiated connective tissue disease (UCTD). Is there a common signature to all patients expressing anti-Ro60 autoantibodies regardless of their disease phenotype? METHODS: Using high-throughput multi-omics data collected within the cross-sectional cohort from the PRECISESADS IMI project (genetic, epigenomic, transcriptomic, combined with flow cytometric data, multiplexed cytokines, classical serology and clinical data), we assessed by machine learning the integrated molecular profiling of 520 anti-Ro60-positive (anti-Ro60+ ) compared to 511 anti-Ro60-negative (anti-Ro60- ) patients with pSS, SLE and UCTD, and 279 healthy controls (HCs)...

Connective tissue diseases (CTDs) demonstrating features of interstitial lung disease (ILD) include systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), systemic sclerosis (SSc), dermatomyositis (DM) and polymyositis (PM), ankylosing spondylitis (AS), Sjogren syndrome (SS), and mixed connective tissue disease (MCTD). On histopathology of lung biopsy in CTD-related ILDs (CTD-ILDs), multi-compartment involvement is an important clue, and when present, should bring CTD to the top of the list of etiologic differential diagnoses...

INTRODUCTION: Raynaud phenomenon (RP), typically, precede the clinical onset of systemic manifestations in several connective tissue diseases (CTDs). These autoimmune disorders usually share a microvascular damage whose alterations can be detected by nailfold videocapillaroscopy (NVC). The aim of the study was to compare the NVC microvascular status in Mixed Connective Tissue Disease (MCTD) versus the Undifferentiated Connective Tissue Disease (UCTD), and to search correlations between NVC findings and specific autoantibodies in UCTD patients...

OBJECTIVE: The aim of the study was to discover the interrelation between the severity of gastroesophageal reflux disease (GERD) symptoms, acid exposure time (AET), excessive daytime sleepiness (EDS) and the level of active blood plasma ghrelin in the patients with undifferentiated connective tissue disease (UCTD). PATIENTS AND METHODS: Materials and methods: The study included 120 patients with GERD. All the patients were divided in two groups: Group I - GERD was not accompanied by the signs of connective tissue disease (n=45) and Group II - GERD developed on the background of UCTD syndrome (n=75)...

Undifferentiated connective tissue disease (UCTD) is characterized by signs and symptoms suggestive of a connective tissue disease (CTD), but not fulfilling criteria for a specific CTD. Although UCTD is probably the most common rheumatic disease diagnosed in pregnant women, data about disease course during pregnancy and perinatal outcomes are very limited. Compared to other CTDs, UCTD seems to have milder clinical manifestations in pregnancy. Its natural history is related to disease activity at conception...

OBJECTIVES: We sought to evaluate the performance of the SLE Risk Probability Index (SLERPI) for identification of SLE in a large cohort of patients with UCTD. METHODS: The SLERPI was applied in a cohort of patients who met classification criteria for UCTD and did not fulfil any classification criteria for other defined CTD including SLE. Patients with a SLERPI score of >7 were 'diagnosed' as SLE. Patients diagnosed with SLE and those not were compared in terms of disease characteristics and index parameters...

Mutations and polymorphisms of the genes whose products are involved in the formation of extracellular matrix components can lead to the development of specific changes in the connective tissue of the eye in primary open-angle glaucoma (POAG). Understanding the nature of connective tissue pathology and its manifestations at the system level contributes to the development of specific markers of early detection and a personalized approach to the prevention and treatment of POAG. PURPOSE: To study the associations between systemic manifestations of undifferentiated connective tissue dysplasia (uCTD) and the development of POAG based on clinical and molecular genetic studies...

OBJECTIVE: To provide information on the prevalence and possible clinical association in a Chinese population for medical practice of the dense fine speckled pattern (DFS pattern). METHODS: A retrospective study was conducted with patients who had the DFS pattern from June 2018 to December 2019 in West China Hospital. RESULTS: A total of 469 patients (1.27% of patients with positive anti-nuclear antibody indirect immunofluorescence (ANA IIF) test results) revealed the DFS pattern, of which 92...

OBJECTIVE: The aim: To evaluate the peculiarity of clinical manifestations of neonatal respiratory distress syndrome (NRDS) in deeply premature infants from mothers with phenotypic markers of undifferentiated connective tissue dysplasia (UCTD). PATIENTS AND METHODS: Materials and methods: The study represent the results of a retrospective clinical and statistical analysis of 268 premature birth report card and newborn report sheet. .The main (1 group) included 50 pregnants with obvious phenotypic markers of UCTD, the comparison group (group 2) consisted of 50 pregnant women without phenotypic markers of UDCTD...

BACKGROUND: Not all patients fulfil criteria for specific autoimmune rheumatic diseases (ARDs) and are then defined as having non-criteria (nc)ARD. It is uncertain whether well-recognised associations with adverse pregnancy outcomes in patients with criteria ARD also exist in patients with ncARD or undifferentiated connective tissue disease (UCTD). Therefore, we undertook a systematic review of the prevalence of adverse pregnancy outcomes in various ncARD and UCTD compared with criteria ARD to identify whether there are increased risks and to examine for any benefits of treatment...

Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations that can potentially affect every organ and system. SLE is usually identified on the basis of clinical or serological manifestations; however, some individuals can present with signs and symptoms that are consistent with SLE but are not sufficient for a definite diagnosis. Disease in these individuals can either progress over time to definite SLE or remain stable, in which case their disease is often described as intermediate, possible or probable SLE...

Immunological tolerance is a critical feature of the immune system; its loss might lead to an abnormal response of lymphocytes causing autoimmune diseases. One of the most important groups belonging to autoimmune disorders is the connective tissue diseases (CTD). CTD are classified among systemic rheumatic diseases and include pathologies such as systemic lupus erythematosus (SLE), and undifferentiated CTD (UCTD). In this study, we evaluated oxidative and genome damage in peripheral blood lymphocytes from patients with SLE and UCTD, further classified on the basis of disease activity and the presence/absence of a serological profile...

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. We are reporting a case of 21 years old patient, who presented with lower limb weakness, marked hypokalemia, proteinuria, and renal impairment detected on laboratory evaluation. The diagnosis of Bartter syndrome was suspected by marked hypokalemia and was supported by renal biopsy which showed evidence of Juxtaglomerular (JG) hyperplasia. This is the first case report about clinicopathological features of the patient with acquired Bartter syndrome and associated undifferentiated connective tissue disorder manifesting as hypokalemia with paralysis...

OBJECTIVE: In patients with RP, capillaroscopy is useful for discriminating primary from secondary causes. There are certain capillaroscopy and lab values as predictive factors leading to a known CTD. We conducted the present study to evaluate the causes of RP in our area and followed the studied subjects to find prognostic factors indicating a definite CTD or remaining a UCTD. METHODS: In this retrospective cohort study we included all adult patients with RP who were referred for capillaroscopy from 2010 to 2019...

Autoantibodies targeting nuclear and cytoplasmic autoantigens are used as markers in the diagnosis and classification of systemic autoimmune rheumatic diseases (SARD). The dense fine speckled (DFS) pattern is characterized by the fine-granular fluorescence of the nuclei in the interphase and the metaphase chromatin. DFS70 antibodies have been reported in healthy individuals, various autoimmune disorders, infection, cancer and inflammatory conditions. But there is still lack of information about its clinical significance...

The occurrence of ischemia of the digits or digital gangrene is a well-known complication of systemic autoimmune diseases, such as systemic sclerosis, systemic lupus erythematosus, and anti-phospholipid syndrome, among others. The pathophysiological mechanisms are small vessel vasculitis, vasospasm of Raynaud's phenomenon, microthrombi due to antiphospholipid syndrome, and/or accompanying accelerated atherosclerosis. Digital ischemia can also occur in the context of disseminated bacterial infections and sepsis...