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Pulmonary Circulation Apr 2024Chronic thromboembolic pulmonary hypertension (CTEPH) is a chronic disease that can rapidly deteriorate into circulatory collapse when complicated by comorbidities. We...
Balloon pulmonary angioplasty under awake veno-arterial extracorporeal membrane oxygenation in a patient with class III obesity with chronic thromboembolic pulmonary hypertension complicated with multiple serious comorbidities.
Chronic thromboembolic pulmonary hypertension (CTEPH) is a chronic disease that can rapidly deteriorate into circulatory collapse when complicated by comorbidities. We herein describe a case involving a 43-year-old woman with class III obesity (body mass index of 63 kg/m) and severe CTEPH associated with total occlusion of the left main pulmonary artery who subsequently developed circulatory collapse along with multiple comorbidities, including acute kidney injury, pulmonary tuberculosis, and catastrophic antiphospholipid syndrome. The patient was successfully treated with two sessions of rescue balloon pulmonary angioplasty with veno-arterial extracorporeal membrane oxygenation (V-A ECMO) support under local anesthesia without sedation, at cannulation and during the V-A ECMO run, to avoid invasive mechanical ventilation. This case suggests the potential usefulness of rescue balloon pulmonary angioplasty under awake V-A ECMO support for rapidly deteriorating, inoperable CTEPH in a patient with class III obesity complicated with multiple comorbidities.
PubMed: 38681871
DOI: 10.1002/pul2.12377 -
Cureus Mar 2024This case report explores the efficacy of warfarin compared to apixaban in managing antiphospholipid syndrome (APS), an autoimmune disorder characterized by recurrent...
This case report explores the efficacy of warfarin compared to apixaban in managing antiphospholipid syndrome (APS), an autoimmune disorder characterized by recurrent thrombosis. We emphasize the constraints of direct oral anticoagulants (DOACs) such as apixaban in APS management. This case discusses a 41-year-old female patient with APS who did not respond to apixaban therapy. The report details her transition to warfarin, resulting in symptom resolution and no further complications, thus alluding to warfarin's effectiveness in APS management over apixaban. The case contributes to the ongoing debate on the suitability of modern DOACs in APS treatment.
PubMed: 38681463
DOI: 10.7759/cureus.57040 -
Indian Journal of Nephrology 2024Systemic lupus erythematosus (SLE) is an autoimmune disease that can involve multiple organ systems. The most common form of vasculitis seen in SLE is small vessel...
Systemic lupus erythematosus (SLE) is an autoimmune disease that can involve multiple organ systems. The most common form of vasculitis seen in SLE is small vessel vasculitis. Aortitis in SLE or antiphospholipid syndrome is an extremely rare complication. Here, we present a 32-year-old female who presented with a history of prolonged abdominal pain, who was evaluated and diagnosed to have aortitis as an unusual involvement in SLE with secondary antiphospholipid antibody syndrome.
PubMed: 38681004
DOI: 10.4103/ijn.ijn_316_22 -
International Journal of Molecular... Apr 2024Some 90 autoimmune disorders have been described in medical literature, affecting most of the tissues within the body. Autoimmune disorders may be difficult to treat,... (Review)
Review
Some 90 autoimmune disorders have been described in medical literature, affecting most of the tissues within the body. Autoimmune disorders may be difficult to treat, and there is a need to develop novel therapeutic strategies for these disorders. Autoimmune disorders are characterised by mitochondrial dysfunction, oxidative stress, and inflammation; there is therefore a rationale for a role for coenzyme Q10 in the management of these disorders, on the basis of its key role in normal mitochondrial function, as an antioxidant, and as an anti-inflammatory agent. In this article, we have therefore reviewed the potential role of CoQ10, in terms of both deficiency and/or supplementation, in a range of autoimmune disorders.
Topics: Ubiquinone; Humans; Autoimmune Diseases; Animals; Oxidative Stress; Antioxidants; Mitochondria
PubMed: 38674161
DOI: 10.3390/ijms25084576 -
Pediatric Rheumatology Online Journal Apr 2024The clinical relevance of different antiphospholipid antibody (aPL) profiles, including low level anticardiolipin (aCL) and anti-β-glycoprotein-I (aβGPI) antibodies,...
BACKGROUND
The clinical relevance of different antiphospholipid antibody (aPL) profiles, including low level anticardiolipin (aCL) and anti-β-glycoprotein-I (aβGPI) antibodies, is ill-defined in the pediatric population. Our purpose is to describe the demographic, clinical, and laboratory characteristics of aPL positive pediatric patients based on different aPL profiles.
FINDINGS
In this single center retrospective cohort study, based on the screening of our pediatric (age ≤ 18) rheumatology electronic medical records (2016-2022), we identified patients who had at least one "positive" aPL (lupus anticoagulant [LA], aCL IgG/M, or aβGPI IgG/M) result. Patients were grouped into high- (LA positive and/or aCL/aβGPI IgG/M > 40U [ELISA]) and low-risk (LA negative and aCL/aβGPI IgG/M 20-39U) aPL profiles; those with persistently positive aPL were descriptively analyzed for demographic and clinical characteristics. Of 57 included patients, 34 (59%) had initial high- and 23 (40%) had initial low-risk profiles. Based on subsequent aPL results available in 42/57 (74%) patients, 25/27 (93%) in the high-, and 7/15 (47%) in the low-risk groups remained still positive. Of these 32 patients with persistently positive aPL, moderate-to-large vessel or microvascular thrombosis occurred in nine (28%) patients with high-risk and in none with low-risk aPL profiles; non-thrombotic aPL-related manifestations were reported in 15 (47%) patients with persistent aPL positivity.
CONCLUSION
An initial high-risk aPL profile was persistent in approximately 90% of our cohort, a third of whom had thrombosis, and half had non-thrombotic aPL manifestations. Our results underscore the need for a large-scale effort to better characterize aPL-related manifestations in pediatric patients with persistent high-risk aPL-profiles.
Topics: Humans; Female; Male; Child; Retrospective Studies; Antibodies, Antiphospholipid; Adolescent; beta 2-Glycoprotein I; Antibodies, Anticardiolipin; Antiphospholipid Syndrome; Child, Preschool; Lupus Coagulation Inhibitor; Rheumatic Diseases; Thrombosis; Clinical Relevance
PubMed: 38671480
DOI: 10.1186/s12969-024-00954-8 -
Frontiers in Surgery 2024Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent arterial and venous thrombosis, habitual fetal miscarriages, often accompanied by...
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent arterial and venous thrombosis, habitual fetal miscarriages, often accompanied by mild to moderate thrombocytopenia, and persistent moderate-to-high titer positivity for antiphospholipid antibodies (aPLs). However, patients with antiphospholipid antibodies may also present with several nonthrombotic clinical manifestations, such as thrombocytopenia, cardiac valve disease, nephropathy, skin ulcers, or cognitive dysfunction, which are collectively referred to as nonstandard manifestations of APS. Of these, for APS with predominantly cutaneous ulcers, previous reports have focused on APS with combined cutaneous vasculitis, and its medical treatment, rather than cutaneous ulcers with predominantly fatty inflammatory lesions, and the associated surgical treatment. Here, we admitted a relatively rare case of primary APS with extensive skin ulceration of the right lower extremity, without cutaneous vasculitis, in the presence of extensive and severe inflammatory lipoatrophy, carrying anti-β2-glycoprotein I and lupus anticoagulant, which is reported as follows, with a view to raising awareness of this disease.
PubMed: 38660586
DOI: 10.3389/fsurg.2024.1360928 -
Cureus Mar 2024Antiphospholipid syndrome (APS) is characterized by the occurrence of thrombotic events and/or obstetric complications in the presence of antiphospholipid antibodies. It...
Antiphospholipid syndrome (APS) is characterized by the occurrence of thrombotic events and/or obstetric complications in the presence of antiphospholipid antibodies. It is considered one of the most common acquired thrombophilias. The presentation of stroke in patients with APS has been described in some studies; however, it is not frequent enough and there is not much information available regarding the indications for pharmacological thrombolysis and the safety of thrombolytic treatment. Likewise, current evidence does not describe contraindications to thrombolytic therapy in cases of this diagnosis, which makes management with fibrinolysis safe in these cases. A clinical case of stroke is presented in which pharmacological thrombolysis is performed with a successful outcome, without complications of angioedema or bleeding. Likewise, concerning the case, the main neurological manifestations associated with APS, especially in its association with stroke, are described.
PubMed: 38659540
DOI: 10.7759/cureus.56897 -
Heliyon Apr 2024Antiphospholipid syndrome (APS) is an autoimmune disorder associated with thrombosis and adverse obstetric outcomes. Early diagnosis and intervention can improve...
INTRODUCTION
Antiphospholipid syndrome (APS) is an autoimmune disorder associated with thrombosis and adverse obstetric outcomes. Early diagnosis and intervention can improve pregnancy outcomes to some extent, but current results are unsatisfactory. Exosomes, containing biomacromolecules relevant to reproduction, play essential roles in pregnancy. However, research progress on their involvement in APS remains limited.
OBJECTIVES
This study aims to investigate protein profile changes in plasma exosomes and identify potential biomarkers for obstetric APS.
METHODS
We employed tandem mass tag (TMT) markers to analyze exosome protein profiles from 6 healthy early pregnant women and 6 early-stage APS patients. Quantitative proteomics analysis was conducted using the Maxquant search engine.
RESULTS
Differential expression analysis identified 51 upregulated and 22 downregulated proteins in plasma exosomes from early pregnant women with APS, such as serpin peptidase inhibitor C1/A1/A7, apolipoprotein 1/2, orosomucoid 1/2 and apolipoprotein H. Kyoto Encyclopedia of Genes and Genomes analysis shows that differentially expressed proteins are enriched in the PPAR signaling pathway and staphylococcus aureus infection pathway. Enrichment analysis indicated associations with glycerolipid biosynthesis, vitamin transport, and negative regulation of very-low-density lipoprotein particle remodeling.
CONCLUSION
Our study highlights alterations in the protein profiles of plasma exosomes in APS pregnant patients and proposes potential biomarkers, offering insights for early diagnosis and treatment and improving reproductive outcomes.
PubMed: 38655308
DOI: 10.1016/j.heliyon.2024.e29224 -
Frontiers in Pediatrics 2024Catastrophic antiphospholipid syndrome (CAPS) is a multi-system autoimmune disease characterized by extensive thrombosis. Pediatric CAPS is extremely rare and associated...
BACKGROUND
Catastrophic antiphospholipid syndrome (CAPS) is a multi-system autoimmune disease characterized by extensive thrombosis. Pediatric CAPS is extremely rare and associated with a high mortality rate, especially when midbrain infarction is involved. Hence, early diagnosis and prompt initiation of appropriate treatment for CAPS complicated by midbrain infarction are of utmost importance in achieving favorable outcomes.
CASE PRESENTATION
In this report, we present the case of a 14-year-old girl who presented with neurological symptoms and digestive system infection and was initially diagnosed with an "intracranial infection". After a series of rigorous diagnostic procedures, the patient was ultimately diagnosed with primary CAPS and was immediately transferred to the intensive care unit where she was treated with anticoagulation, glucocorticoids, intravenous immunoglobulin (IVIG) therapy, and multiple plasma infusions. Twenty-seven days after admission, the patient's condition improved with standardized treatment, and she was discharged and followed up regularly.
CONCLUSION
This case report provides a description of the clinical features observed in a pediatric patient with CAPS and concurrent midbrain infarction, highlighting the crucial role of early diagnosis and timely treatment in influencing patient prognosis.
PubMed: 38650992
DOI: 10.3389/fped.2024.1370843 -
Advanced Science (Weinheim,... Jun 2024Antiphospholipid syndrome (APS) is characterized by thrombus formation, poor pregnancy outcomes, and a proinflammatory response. H3K4me3-related monocytes activation are...
Antiphospholipid syndrome (APS) is characterized by thrombus formation, poor pregnancy outcomes, and a proinflammatory response. H3K4me3-related monocytes activation are key regulators of APS pathogenesis. Therefore, H3K4me3 CUT&Tag and ATAC-seq are performed to examine the epigenetic profiles. The results indicate that the H3K4me3 signal and chromatin accessibility at the FOXJ2 promoter are enhanced in an in vitro monocyte model by stimulation with β2GPI/anti-β2GPI, which mimics APS, and decreases after OICR-9429 administration. Furthermore, FOXJ2 is highly expressed in patients with primary APS (PAPS) and is the highest in patients with triple-positive antiphospholipid antibodies (aPLs). Mechanistically, FOXJ2 directly binds to the SLAMF8 promoter and activates SLAMF8 transcription. SLAMF8 further interacts with TREM1 to stimulate TLR4/NF-κB signaling and prohibit autophagy. Knockdown of FOXJ2, SLAMF8, or TREM1 blocks TLR4/NF-κB and provokes autophagy, subsequently inhibiting the release of inflammatory and thrombotic indicators. A mouse model of vascular APS is established via β2GPI intraperitoneal injection, and the results suggest that OICR-9429 administration attenuates the inflammatory response and thrombus formation by inactivating FOXJ2/SLAMF8/TREM1 signaling. These findings highlight the overexpression of H3K4me3-mediated FOXJ2 in APS, which consequently accelerates APS pathogenesis by triggering inflammation and thrombosis via boosting the SLAMF8/TREM1 axis. Therefore, OICR-9429 is a promising candidate drug for APS therapy.
Topics: Animals; Mice; Monocytes; Thrombosis; Humans; Inflammation; Forkhead Transcription Factors; Disease Models, Animal; Antiphospholipid Syndrome; beta 2-Glycoprotein I; Female; Histones; Male; Signal Transduction; Antibodies, Antiphospholipid
PubMed: 38639399
DOI: 10.1002/advs.202309140