Connective Tissue Disease Research Articles

Treatment with nintedanib is as effective and safe in patients with other connective tissue diseases (CTDs)-interstitial lung disease (ILD) as in patients with systemic sclerosis-ILD: A multicenter retrospective study.

The aim of this study is to assess the efficacy and safety of nintedanib (NTD) therapy in a real world population of patients with connective tissue diseases related interstitial lung disease (CTDs-ILD). Our multicenter retrospective study included patients with a CTD-ILD diagnosis who started NTD treatment due to the development of PPF during follow-up. The results of the percentage predicted forced vital capacity (%pFVC) and percentage predicted diffusion capacity (%pDLCO) of patients before NTD treatment and 6, 12 and 18months after the start of NTD treatment were evaluated. In addition, the patients were divided into two groups, SSc-ILD and other CTDs-ILD, and compared in terms of the efficacy and safety of the NTD. In all patients (n = 66), %pFVC and %pDLCO values stabilised after 6, 12 and 18months compared to baseline values. All patients received at least one immunosuppressive therapy in combination with NTD treatment. The most common side effect after NTD treatment was diarrhoea (n = 20, 30.3%). When we divided the patients into two groups, SSc-ILD (n = 35) and other CTDs-ILDs (n = 31), no significant difference was found between the groups in the change in %pFVC (p values = 0.498, 0.595 and 0.376, respectively) and in the change in %pDLCO (p values = 0.817, 0.185 and 0.399, respectively) at 6, 12 and 18months follow-up. Again, there was no statistically significant difference between the two groups in terms of adverse events and safety data after NTD treatment (p > 0.05). In summary, the use of NTD in combination with immunosuppressive therapies was effective and safe in SSc-ILD patients as well as in other CTDs-ILD patients. Key Points • This multicenter study provides real-world data on the use of nintedanib in patients with connective tissue disease-interstitial lung disease. • Nintedanib treatment is as effective and safe in patients with other connective tissue disease as in patients with systemic sclerosis.

Anti-fibroblast and anti-endothelial cell autoantibodies in pulmonary arterial hypertension (PAH) in patients with connective tissue diseases (CTD).

Pulmonary arterial hypertension (PAH) is a rare disease that may be associated with connective tissue diseases (CTD). Anti-fibroblast (AFA) and anti-endothelial cell autoantibodies (AECA) have been identified in idiopathic and systemic sclerosis (SSc)-associated PAH. The aim was to identify autoantibodies discriminating for PAH associated with systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD) and primary Sjögren's syndrome (SS), and their target antigens. Sera were collected in the French multicentre Auto-HTAP study from 86 patients with CTD excluding SSc, including 32 with PAH (PAH+) and 54 without (PAH-). AFA and AECA were identified using one (1D) and two dimensions (2D) immunoblots and proteomics. ELISA tests using human recombinant proteins were used to confirm PAH-associated IgG reactivities. PAH+ patients had similar IgG AFA and AECA reactivities in 56.2% and 40.6% of the cases in 1D immunoblots, respectively. In 2D immunoblots, serum IgG pools from SLE patients (n = 14), MCTD (n = 10), SS (n = 9) and 14 healthy controls (n = 1) recognized respectively 273 ± 79, 205 ± 77, 109 ± 11 and 109 protein spots in fibroblasts and 189 ± 48, 146 ± 30, 88 ± 33 and 190 protein spots in endothelial cell extracts. Serum IgG from PAH+ patients recognized 39 fibroblast and 34 endothelial cell protein spots that were not recognized by IgG from PAH- patients, including Annexin A5 (ANXA5). Anti-ANXA5 IgG reactivity was significantly higher in PAH+ compared with PAH- patients with MCTD (73% vs 0%, p< 0.001) and SLE (33% vs 0%, p= 0.009). Anti-ANXA5 IgG autoantibody reactivity might represent a predictive biomarker for PAH associated with MCTD and SLE.

Acute kidney injury and outcomes in hospitalized children with autoimmune rheumatic disease

BackgroundAutoimmune rheumatic diseases (ARDs) in children can negatively impact renal function, potentially leading to acute kidney injury (AKI). This study compares the prevalence of AKI and other adverse in-hospital outcomes among hospitalized children with ARDs.MethodsA retrospective analysis was conducted using the United States Nationwide Inpatient Sample (NIS) database from 2005 to 2020. The study included children aged 1–17 years with ARDs, categorized into inflammatory arthritis, ANCA-associated vasculitis, systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and other connective tissue diseases. Logistic regression assessed associations between ARD types and outcomes, including AKI, dialysis, and major adverse events.ResultsAmong 13,891 children with ARDs, 8.2% developed AKI and 1.3% required dialysis. Compared to inflammatory arthritis, ANCA-associated vasculitis significantly increased the risk of AKI (aOR = 11.20, 95% CI: 8.08–15.51) and dialysis (aOR = 40.60, 95% CI: 13.54-121.71). SLE also elevated risks of AKI (aOR = 4.16, 95% CI: 3.20–5.40) and dialysis (aOR = 11.34, 95% CI: 4.15–31.01). Children with SSc had increased risks of infection/pneumonia (aOR = 2.51, 95% CI: 1.84–3.41) and sepsis (aOR = 2.13, 95% CI: 1.26–3.58).ConclusionsChildren with ARDs, especially those with ANCA-associated vasculitis and SLE, face elevated risks of AKI and dialysis. These findings underscore the importance of vigilant monitoring and tailored management in this population.

Early Autologous Fat Grafting for Facial Lipoatrophy Caused by Undifferentiated Connective Tissue Disease.

A variety of autoimmune disorders that do not fit the criteria for specific connective tissue diseases are included in the category of undifferentiated connective tissue disease (UCTD). Facial lipoatrophy is an underreported presenting characteristic, despite the prevalence of cutaneous symptoms. The aim of this article is to demistrate the potential of early autologous fat grafting (AFG) in treating facial depressions caused by UCTD. A 29-year-old woman with UCTD presented with progressive bilateral cheek depressions and was managed with tacrolimus lately. Sheet-like depressions can be found during physical examination, which are more pronounced on the left cheek. The patient underwent AFG surgery to the affected areas. During the surgery, a total of 30 mL of fat was harvested from the lower abdomen, and 5.0 mL of pure fat was eventually gained and grafted to the bilateral cheek depressions. Satisfying aesthetic outcomes were achieved with smooth facial contours. Through the use of adipose-derived stem cells, early AFG in the active stage of UCTD can enhance face appearance while also possibly having local anti-inflammatory and antifibrotic benefits. It also has important implications for improving the look and slowing the progression of other autoimmune diseases that affect the face.

Association Between Phase Angle and Tongue Pressure in Older Inpatients with Connective Tissue Diseases.

To investigate the association between tongue pressure (TP) and phase angle (PhA) in patients with connective tissue diseases (CTDs) aged 65years or older. This retrospective cross-sectional study was conducted on 189 patients with CTDs who underwent hospital rehabilitation. TP was measured using a tongue pressure measuring device, and PhA was calculated from the bioimpedance analysis readings. Statistical analyses included multivariate linear regression with TP and receiver operating characteristic curves to determine PhA cutoff values indicative of low TP, defined as < 24.3kPa for men and < 23.7kPa for women. A total of 189 patients with CTDs (mean age 75years; 49 men and 140 women; mean PhA 4.0°; mean TP 27.7kPa) were included in the analysis. Fifty-five patients had low TP. Patients with low TP had lower PhA values than those with normal TP (mean PhA values 3.5° versus 4.3°). After adjusting for confounding factors, PhA (β = 0.387, p < 0.001) was significantly associated with TP. Cutoff values for PhA predicting low TP were identified as 3.9° for men and 3.5° for women. PhA is associated with TP, independent of other factors, in older inpatients with CTDs. The identified PhA cutoff values could enable the early detection of declining TP.

Association of combined pulmonary fibrosis and emphysema in rheumatoid arthritis with high titer of rheumatoid factor and autoimmunity to the lung

BackgroundCombined pulmonary fibrosis and emphysema (CPFE) commonly coexists with connective tissue diseases (CTD), such as rheumatoid arthritis (RA). However, the risk factors contributing to the development of CTD-CPFE remain largely unidentified. This study aimed to characterize CPFE using a large cohort of consecutive RA patients and to elucidate potential risk factors associated with RA- CPFE development.MethodsA total of 976 RA patients were enrolled in this cross-sectional study to characterize RA-CPFE. Multiple logistic analyses were conducted to identify potential risk factors for RA-CPFE development. Patient IgG and IgM autoantibodies to primary human bronchial epithelial cells (HBEC) from healthy donors were assessed using flow cytometry.FindingsAmong the 976 RA patients, 414 (42.4%) developed interstitial lung disease (ILD), with 74 (7.6%) experiencing CPFE. In comparison to RA-CPFE patients with centrilobular or paraseptal emphysema, those with panacinar emphysema had higher emphysema scores and decreased pulmonary function parameters. Multiple logistic regression analysis revealed that male gender, cigarette smoking, occupational exposure to dust, high ILD score, high rheumatoid factor (RF) titers, and the presence of anti-SSA were associated with an increased risk for RA-CPFE. Additionally, levels of IgG and IgM autoantibodies to HBEC were elevated in RA-CPFE patients compared to healthy controls and positively correlated with RF levels.InterpretationThis study is the first to demonstrate the association of RA-CPFE with high titer of RF and the presence of autoantibodies against HBEC, suggesting a link between autoimmunity to the lung and RA-CPFE.

Case report: Primary cardiac synovial sarcoma with suspected connective tissue disease diagnosed by EBUS-TBMB

Primary cardiac synovial sarcoma (PCSS) most commonly originates in the right atrium of the heart and is exceptionally rare. Although biomarkers of autoimmune diseases, such as antinuclear antibodies (ANAs), have been reported as potential indicators of certain tumors, the association between PCSS and ANAs remains unclear. Herein, we describe a case of pleural effusion that was initially considered to be due to connective tissue disease (CTD) but was finally diagnosed as PCSS through endobronchial ultrasound-guided transbronchial mediastinum biopsy (EBUS-TBMB). Clinicians need to update their knowledge regarding the potential association between PCSS and ANAs. This case report also emphasizes the importance of EBUS-TBMB, under the guidance of positron emission tomography/computed tomography (PET/CT), in the diagnosis of this rare tumor in an unusual location.

Diffuse Parenchymal Lung Diseases due to Overlap syndrome (Rheumatoid arthritis and Systemic Sclerosis) with Sjogren syndrome and Psoriasis: A Rare case report

The diffuse parenchymal lung diseases (DPLDs) are a heterogeneous group of conditions affecting the pulmonary parenchyma (interstitial) and/or alveolar lumen. Since DPLD in overlap syndromes has a poor prognosis, extensive work up should be performed even when clinical evidence of only one autoimmune disease is present. DPLD is a frequent manifestation of connective tissue diseases (CTDs), with incidence and prevalence variously assessed in the literature but reported in up to 30% of patients, with higher frequency in rheumatoid arthritis (RA) and systemic sclerosis (SSc). However, Sjogren’s syndrome (SS) is a chronic inflammatory disease characterized by lymphocytic infiltrates in the exocrine glands, mainly the salivary and lacrimal glands. DPLD is found in 3-11% of the patients with primary Sjogren’s syndrome, often leading to life-threatening complications. When combined, the diagnosis is often missed or delayed, which can lead to an increased incidence of long-term morbidity and mortality. We present an interesting case of DPLD due to RA-SSc overlap syndrome and Sjogren syndrome – a 53-year-old non-diabetic, normotensive, non-smoker, cotton-wool cloth weaver, married, Muslim female presented with progressively increasing dry, distressing non-productive cough for 3 years which was persistent throughout the day without any seasonal or diurnal variation. She complaints of insidious onset, gradually progressive breathlessness, with mMRC grade-3 at present from initial mMRC grade-0. There was no history of orthopnoea, palpitation, chest pain or any swelling of body. She also complaints of symmetrical inflammatory polyarthritis for 6 months involving small joints of hands, wrist, elbow, feet; not associated with joint swelling, oral ulcer, photosensitivity. She developed painless, non-itchy salt and pepper skin pigmentation along with partly scaly over forehead, back of chest, around neck, upper and lower limbs but no muscle aches and proximal myopathy. We emphasized on inter-professional consultation in the diagnosis and treatment of such a rare case. Mugda Med Coll J. 2024; 7(2): 139-143

The Role of Nailfold Videocapillaroscopy in the Diagnosis and Monitoring of Interstitial Lung Disease Associated with Rheumatic Autoimmune Diseases

Interstitial lung disease (ILD) is a severe complication of certain connective tissue diseases (CTDs) such as systemic sclerosis (SSc), mixed connective tissue disease (MCTD), idiopathic inflammatory myopathies (IIM), rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), and it is associated with nailfold videocapillaroscopy (NVC) changes and increased morbidity and mortality rates. Early diagnosis is crucial in order to prevent the progression of ILD, prevent respiratory failure and enhance the patient’s overall quality of life. The most common paraclinical investigations are high-resolution computed tomography (HRCT) and functional respiratory tests such as forced vital capacity (FVC) and the diffusing capacity of the lungs for carbon monoxide (DLCO). The most frequent CTD associated with both ILD and NVC changes is systemic sclerosis. The “late” scleroderma pattern was the most common abnormality identified in NVC results in SSc patients. Other autoimmune diseases were also correlated with ILD and NVC changes, especially when the Raynaud phenomenon was present. Low capillary density was associated with the presence and severity of ILD and a reduction in FVC and DLCO. NVC can also differentiate the capillaroscopic changes in some particular types of ILD, such as the usual interstitial pneumonia (UIP) pattern from the non-specific interstitial pneumonia (NSIP) pattern. Nevertheless, further extensive research is necessary in order to establish the diagnostic value of NVC in CTD-ILD in clinical practice.

Assessment of Treatment Effects of Aminaphtone by Capillaroscopy in a Patient with Raynaud’s Phenomenon

Background: Aminaphtone is a well-established pharmaceutical agent that has been utilized for over 40 years, primarily due to its effectiveness in treating microvascular disorders. Recent studies have explored its impact on various conditions, including chronic venous insufficiency, diabetic microangiopathy, leg ulcers, systemic sclerosis, and Raynaud’s phenomenon. These investigations have consistently demonstrated that aminaphtone enhances skin blood perfusion and mitigates endothelial damage, all while maintaining a robust safety profile over time. Case Summary: This report highlights the potential of aminaphtone in improving microcirculation in a young patient who experienced spontaneous capillary rupture in her second finger. A 38-year-old woman with undifferentiated connective tissue disease presented to the clinic for periungual videocapillaroscopy (NVC). Given the microangiopathic changes observed during the NVC, she was prescribed aminaphtone. After seven months of treatment, a follow-up NVC revealed significant improvement in the capillaroscopic findings. A comprehensive literature review on aminaphtone was conducted using electronic databases (PUBMED, Google Scholar, ResearchGate, UpToDate), along with manual searches, focusing on articles published until November 2024. Conclusion: Treatment with aminaphtone led to notable improvements in microangiopathic health. Following the introduction of this medication, the nailfold microvascular bed, which previously exhibited severe alterations, showed a remarkable transition to only mild abnormalities.

Should antinuclear antibodies (ANA) be used to screen for connective tissue disease in neurological patients?

Patients with connective tissue diseases (CTD) can have a wide range of neurological manifestations. Neurological complaints may be the presenting symptom of CTD. Therefore, screening for CTD using anti-nuclear antibodies (ANA) is a common practice. However, due to the abundance of positive ANA in a healthy population, interpretation of the results may be complex. we retrospectively evaluated files of patients hospitalized for evaluation of neurological symptoms in Sheba Medical Center during the years 2007-2022. Data was collected regarding epidemiology, ANA status, and rheumatological diagnosis. 4723 patients' files were reviewed. Of them, 46.6% were positive for ANA. 6.9% of them were diagnosed with CTD. This population had significantly higher rates of positive ANA status (71.2% vs 28.8%, p<0.001), was significantly older (59.4 vs 53.4years, p<0.001) and had a significantly higher ANA titer (1:484.8, 1:268 p<0.001) compared to patients without CTD. Factors which were found predictive for CTD diagnosis included female gender, older age, ANA titer above 1:160, and the diagnosis of a non-vascular etiology for the neurological disease. Females, older patients, patients with high ANA titer and with diagnosis of a non-vascular cause to their neurological complains may be more likely to harbor a CTD and should probably be further evaluated.

Trends and Associations of Chilblains Prevalence with Connective Tissue Diseases, Including COVID-19 Incidence.

Chillblains, also known as perniosis, are inflammatory skin lesions that have long been associated with exposure to low temperatures. However, their co-occurrence with autoimmune illnesses and viral infections, particularly COVID-19, has received increased attention. This study was designed to examine chilblains' documented prevalence and association with autoimmune diseases and COVID-19. This was a descriptive cross-sectional study carried out at Mass General Brigham (MGB), an extensive integrated healthcare system situated in Greater Boston, Massachusetts. The study included patients with a confirmed diagnosis of chilblains from 2014 to 2021 and COVID-19 from 2020 to 2021. The study was approved by the Mass General Brigham Human Research Committee, ensuring compliance with ethical standards. During the study, 24,711 charts were reviewed, identifying 1478 patients with chilblains, resulting in an overall registered prevalence of 0.02463%. The majority of chilblains patients were female (72.5%), with the highest proportion in the 31-30-year age group (31.3%). 169 (11.43%) patients were identified with autoimmune diseases, predominantly females (94.1%). The most prevalent condition among them was systemic lupus erythematosus (SLE) (52.6%). Among COVID-19-positive patients (n = 88,763), 30 were diagnosed with chilblains, leading to a prevalence of 0.033%. Females (66.7%) and individuals aged 40-50 (56.7%) were predominantly affected. This study found a low prevalence primarily among young females and a significant correlation with connective tissue disorders like SLE. The study also notes a rare occurrence of chilblains in COVID-19 patients, suggesting a possible association that requires further investigation, particularly regarding demographic patterns within this subgroup.

Stroke volume augmentation improves with PH-targeted therapy in patients with exercise-induced pulmonary hypertension.

Exercise-induced pulmonary arterial hypertension (EiPH) is a clinical entity characterized by exertional dyspnea. Cardiopulmonary exercise testing (CPET) can evaluate exertional limitations in EiPH patients and assess response to therapy. We describe a series of patients treated for EiPH and monitored with non-invasive CPET. case series of 14 patients with EiPH treated with PH-targeted therapy. EiPH was defined by a slope of the mean pulmonary artery pressure (mPAP) vs cardiac output of >3mmHg/L/min with a resting mPAP of <20mmHg and pulmonary vascular resistance <3 Woods units. Oxygen pulse (O2 pulse, ml/beat), a surrogate of stroke volume (SV), was measured by the ratio of oxygen consumption (VO2, L/min) to heart rate (beats/min). Adequate SV augmentation was a ratio of O2 pulse at anaerobic threshold (O2 pulseAT) to O2 pulse at rest (O2 pulseR) of >2.6. Patients were majority female (86%) with a mean age of 59.1.±12.2 years, and 57% had connective tissue diseases. Patients took PH-targeted therapy (endothelin receptor antagonist (n=7), phosphodiesterase-5 inhibitor (n=5) or both (n=2)) for a median exposure of 150 days. There was no change in O2 pulseR after treatment. However, there was a significant increase in the O2 pulseAT (9.7±3.1 vs 7.4±3.2 ml/beat, p=0.003), O2 pulseAT/O2 pulseR ratio (2.8±0.9 vs. 2.0±0.6, p=0.006) and VO2 at anaerobic threshold (0.9±0.3 vs 0.7±0.4ml/kg/min, p=0.04). Patients with EiPH treated with PH-targeted therapy demonstrate improvement in SV augmentation and VO2 at anaerobic threshold on non-invasive CPET. CPET can serve an objective measure of improvement in exercise capacity in patients treated for EiPH.

Atypical calcification in a patient with connective tissue disease.

Atypical calcification in a patient with connective tissue disease.

191 A not-so-sweet diagnosis: a case of antibodymediated recurrent hypoglycemia in a patient with mixed connective tissue disease

191 A not-so-sweet diagnosis: a case of antibodymediated recurrent hypoglycemia in a patient with mixed connective tissue disease

Artificial Intelligence in Diagnosis and Management of Nail Disorders: A Narrative Review.

Artificial intelligence (AI) is revolutionizing healthcare by enabling systems to perform tasks traditionally requiring human intelligence. In healthcare, AI encompasses various subfields, including machine learning, deep learning, natural language processing, and expert systems. In the specific domain of onychology, AI presents a promising avenue for diagnosing nail disorders, analyzing intricate patterns, and improving diagnostic accuracy. This review provides a comprehensive overview of the current applications of AI in onychology, focusing on its role in diagnosing onychomycosis, subungual melanoma, nail psoriasis, nail fold capillaroscopy, and nail involvement in systemic diseases. A literature review on AI in nail disorders was conducted via PubMed and Google Scholar, yielding relevant studies. AI algorithms, particularly deep convolutional neural networks (CNNs), have demonstrated high sensitivity and specificity in interpreting nail images, aiding differential diagnosis as well as enhancing the efficiency of diagnostic processes in a busy clinical setting. In studies evaluating onychomycosis, AI has shown the ability to distinguish between normal nails, fungal infections, and other differentials, including nail psoriasis, with a high accuracy. AI systems have proven effective in identifying subungual melanoma. For nail psoriasis, AI has been used to automate the scoring of disease severity, reducing the time and effort required. AI applications in nail fold capillaroscopy have aided the analysis of diagnosis and prognosis of connective tissue diseases. AI applications have also been extended to recognize nail manifestations of systemic diseases, by analyzing changes in nail morphology and coloration. AI also facilitates the management of nail disorders by offering tools for personalized treatment planning, remote care, treatment monitoring, and patient education. Despite these advancements, challenges such as data scarcity, image heterogeneity, interpretability issues, regulatory compliance, and poor workflow integration hinder the seamless adoption of AI in onychology practice. Ongoing research and collaboration between AI developers and nail experts is crucial to realize the full potential of AI in improving patient outcomes in onychology.

Generation of human induced pluripotent stem cell lines (iPSC) from adipose-derived mesenchymal stromal cells from two patients with systemic sclerosis

Systemic sclerosis (SSc) is a rare and complex connective tissue disease associated with high morbidity and mortality. SSc is characterized by ischemic vasculopathy, cutaneous and visceral fibrosis and a dysimmune state (Denton and Khanna, 2017; Volkmann et al., 2023; Barnes and Mayes, 2012). We have derived induced pluripotent stem cell (iPSC) lines from two SSc patients aged 38 and 67 years with severe vascular phenotype. These iPSC lines expressed pluripotent markers, exhibited normal and stable genome, and differentiated into trilineage embryonic layers in teratoma formation assays. These SSc-specific iPSC lines can be differentiated into endothelial cells, providing a valuable model to elucidate vascular dysfunction and develop personalized therapeutic approaches.

Demographic Features of Acute Type A Aortic Dissection in a Heterogeneous Population of the Gulf Cooperation Council Region

Introduction: Type A aortic dissection (TAAD) management has markedly evolved in the last 20 years. However, the effect of patient demographics on TAAD presentation and outcomes has not been extensively studied worldwide. The aim of this study was therefore to investigate patient characteristics and their association with the perioperative parameters in a mixed population of the Gulf Cooperation Council (GCC) region. Methods: Consecutive patients presenting with TAAD (n=68) at a single centre between 2015 and 2021 were included. Seasonal variations in the occurrence of TAAD were described. Data on patient demographics, past medical history, presenting symptoms, operative techniques, postoperative complications, and in-hospital mortality were collected retrospectively and compared between patients with low (n=34) versus high (n=34) socioeconomic status (SES), and p&lt;0.05 was considered statistically significant. Results: Of the 68 TAAD patients (mean age at presentation, 48.2 ± 15.6 years), 79.4% were male. Admissions for TAAD peaked in spring with 25 cases, contrasting with the lowest number of 12 events in summer (36.8 versus 17.6%; RR 2.1; p=0.03). A total of 75% of patients were non-GCC nationals, of whom 31.4% originated from Western Asia/Levant, 25.5% from Southeast Asia, and 23.5% from the Indian subcontinent. Compared with the high-SES group, patients with low SES were numerically more likely to present with syncope (17.6% versus 2.9%; p=0.1) and featured a notable trend toward requiring more complex aortic reconstruction (88.2% versus 67.6%; p=0.08). Additionally, the low-SES group had numerically more prolonged intensive care unit and hospital length of stay, and a lower rate of previously diagnosed connective tissue disease (0 versus 11.76%, p=0.1). However, the rate of postoperative complications and in-hospital mortality were comparable between the groups. Conclusion: In this study from the GCC region, a significantly younger age at presentation with TAAD compared to Western data was identified, with considerable seasonal variation in incidence. In addition, patients with low SES presenting with TAAD appear to have increased resource usage during hospitalisation.

Platelet/lymphocyte ratio levels as a predictor for echocardiographic abnormalities in patients with systemic lupus erythematosus

Abstract Background Platelet/lymphocyte ratio (PLR) has recently been described as a predictor for adverse cardiovascular outcomes, such as heart failure and coronary artery disease. In systemic lupus erythematosus (SLE), PLR has been studied as a marker of disease activity. PLR has not been evaluated as a cardiovascular biomarker in SLE. Purpose To compare the prevalence of echocardiographic abnormalities between normal and high PLR in patients with SLE. Methods Cross-sectional, retrospective, descriptive study. Women older than 18 years who met the ACR/EULAR 2019 classification criteria for the diagnosis of SLE. Patients with a history of cardiovascular disease, other connective tissue diseases, or pregnancy were excluded. The platelet/lymphocyte ratio (PLR) was calculated by dividing the platelet count by the lymphocyte count; a value &amp;gt;172.68 was considered a high PLR. Transthoracic echocardiography was performed by a certified cardiologist blinded to clinical information. Diastolic dysfunction was defined according to the following parameters: mitral flow E/A ratio, septal and lateral E/E' ratio, left atrial volume, and mitral valve deceleration time. The distribution between groups was assessed with the Kolmogorov-Smirnov test. Comparisons were made using the Chi-square test or Fisher's exact test and the Student T test or Mann-Whitney U test, as appropriate. A p-value&amp;gt;0.05 was considered statistically significant. Results A total of 54 patients were included. The mean age was 35.1 ± 11.8 years. Disease activity measured by SLEDAI was similar between groups (8.0 vs 9.0, p=0.434) and disease duration was longer in patients with high PLR (116 months vs 60 months, p=0.023). The median PLR was 157.1 ± 91.2. There was no difference in indexed left ventricular mass or diastolic dysfunction patterns between patients with high PLR and SLE patients with normal PLR. Complete results are shown in Table 2. Conclusion The prevalence of echocardiographic abnormalities is not higher in those with high PLR compared with those with normal PLR in patients with SLE. Prospective studies with serial measurements of PLR are needed to evaluate its prognostic utility in cardiovascular outcomes in patients with SLE.

Job-exposure matrix (JEM) validity on crystalline silica among systemic sclerosis patients.

Systemic sclerosis (SSc) is the connective tissue disease with the highest individual mortality. Crystalline silica is known to be an occupational risk factor for SSc. To assess past crystalline silica exposure, we aimed to study the validity of a job exposure matrix (JEM) to assess occupational exposure to crystalline silica compared to specific occupational interviews in two populations of SSc patients. To demonstrate the reliability of JEM for the assessment of occupational exposure to hazards such as silica, in severe rare disorders like SSc. Patients from two university hospital centres underwent standardized assessment of occupational silica exposure and collected job histories through face-to-face interviews. A JEM from the French program Matgéné was used to assess silica exposure and compared to the standardized interview results. Standard metrics were computed for evaluate the accuracy of JEM. 67 participants from Rennes, and 119 from Tours were included, with respectively 10.5% and 18.0% of patients with silica exposure based on the results of the interview. The JEM with 50% probability cut-off had a good performance when compared with the classic assessment method. A cumulative exposure index from JEM over 250 had an area under the curve between 0.76 and 0.79 and also a very high positive likelihood ratio (17.14 and 10.29). Despite limitations inherent to JEMs and associated validation methods, the JEM used in this setting provided accurate results to assess occupational exposure to crystalline silica for clinical purposes such as in SSc patients, especially to detect positive cases.