Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect multiple organ systems. Among these, the heart, including the pericardium, conduction system, myocardium, valves, and coronary arteries, can be affected. Hypertrophic cardiomyopathy (HCM) is a myocardial disease caused mainly by genetic mutation. The association between SLE and HCM is still unclear. We are reporting a case of a 25-year-old female with SLE with end-stage renal disease (ESRD) due to lupus nephritis, who was found to have hypertrophic obstructive cardiomyopathy (HOCM) on the echocardiogram and required septal myectomy. She presented to the hospital with dyspnea and was admitted as a hypertensive emergency with pulmonary edema, which required intubation and admission to the cardiac intensive care unit (CICU). She underwent urgent hemodialysis and blood pressure medication adjustment and then improved and was discharged home. Based on the literature review, 10 cases of SLE and HCM were reported, and the underlying mechanisms linking SLE and HCM remain unclear. Further studies are warranted for a better understanding of the association between SLE and HCM.

Cerebral vasculitis is a rare but severe complication of Systemic Lupus Erythematosus (SLE), presenting significant challenges in management due to its potential for devastating neurological consequences and poor prognosis. We present a case of an 18-year-old female with known SLE who presented with seizures, declining cognitive function, and unresponsiveness. Neurological examination, laboratory investigations, and radiological imaging supported the diagnosis of cerebral vasculitis secondary to SLE. Despite aggressive immunosuppressive therapy, the patient\'s neurological status continued to deteriorate, leading to respiratory failure and multiorgan dysfunction. Ultimately, the patient succumbed to multiorgan failure attributed to severe CNS vasculitis and its complications. This case underscores the importance of early recognition and aggressive management of cerebral vasculitis in SLE while highlighting the need for further research into more effective therapeutic strategies to improve patient outcomes.

UNASSIGNED: Systemic lupus erythematosus (SLE) is largely caused by B cell dysfunction. JunD is an activator protein 1 family protein that has been linked to the regulation of apoptotic and proliferative activities. However, the precise mechanism(s) by which JunD functions remains to be fully elucidated. Accordingly, this study aimed to clarify the functional importance of JUND gene expression in SLE, with further analyses of the functional role that JunD plays as a regulator of B cell proliferation and immune function.
UNASSIGNED: Reverse transcriptase quantitative polymerase chain reaction techniques were used to analyze JunD expression in B cells of patients with SLE and healthy subjects. Cell Counting Kit-8 (CCK-8) assays and flow cytometry methods were used to characterise proliferative activity, cell cycle progression, and apoptosis of B cells in which JunD was either knocked down or overexpressed. The immune status and autophagic activity of these cells were assessed using Western immunoblotting and enzyme-linked immunosorbent assay (ELISA). Additionally, a JunD knockdown mouse model was established, and the functional role of B cell JunD expression in the pathogenesis of SLE was assessed using Western immunoblotting, ELISA, and haematoxylin and eosin staining.
UNASSIGNED: B cells from patients with SLE exhibited upregulation of JunD, with overexpression facilitating in vitro cellular proliferation and modulation of the immune and autophagic status of these B cells. JunD knockdown was also sufficient to modulate in vivo immune function and the autophagic status of B cells.
UNASSIGNED: JunD was upregulated in the B cells of patients with SLE, where it regulates proliferation, autophagy, and immunity.

Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening hematologic disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ dysfunction. This report highlights a rare case of small bowel ischemia and ischemic colitis caused by TTP in a 35-year-old woman with systemic lupus erythematosus (SLE), hypertension, and end-stage renal disease on hemodialysis. She presented with severe abdominal pain, diarrhea, vomiting, and bloody bowel movements. Diagnosed through CT, EGD, and colonoscopy and confirmed by ADAMTS13 levels, she was treated with plasma exchange, steroids, and rituximab. After standard therapies failed, resection anastomosis surgery led to clinical improvement. This case underscores the importance of early recognition and treatment of TTP in SLE patients to improve prognosis and reduce morbidity and mortality.

Lupus Nephritis (LN) still represents one of the most severe complications of Systemic Lupus Erythematosus (SLE) and a major risk factor for morbidity and mortality. However, over the last few years, several studies have paved the way for a deeper understanding of its pathogenetic mechanisms and more targeted treatments. This review aims to provide a comprehensive update on progress on several key aspects in this setting: pathogenetic mechanisms of LN, including new insight into the role of autoantibodies, complement, vitamin D deficiency, and interaction between infiltrating immune cells and kidney resident ones; the evolving role of renal biopsy and biomarkers, which may integrate information from renal histology; newly approved drugs such as voclosporin (VOC) and belimumab (BEL), allowing a more articulate strategy for induction therapy, and other promising phase III-immunosuppressive (IS) agents in the pipeline. Several adjunctive treatments aimed at reducing cardiovascular risk and progression of chronic renal damage, such as antiproteinuric agents, represent an important complement to IS therapy. Furthermore, non-pharmacological measures concerning general lifestyle and diet should also be adopted when managing LN. Integrating these therapeutic areas requires an effort towards a holistic and multidisciplinary approach. At the same time, the availability of an increasingly wider armamentarium may translate into improvements in patient\'s renal outcomes over the next decades.

Systemic lupus erythematosus (SLE) is a chronic inflammatory, multisystem autoimmune disease with a broad spectrum of clinical presentations. Neuropsychiatric systemic lupus erythematosus (NPSLE) refers to neurological and psychiatric symptoms involving the central and peripheral nervous systems.  A 23-year-old African American female with a history of undifferentiated connective tissue disease on hydroxychloroquine and poor medication adherence presented to the emergency department with an altered mental status and generalized headache. In addition, she had a fever, associated tachycardia (104 BPM), and hypotension (90/63 mmHg). She was given fluids and started on broad-spectrum antibiotics and antivirals, suspecting bacterial or viral meningitis. However, a broad infectious workup, including cerebral spinal fluid (CSF) culture, was unrevealing. Given the lack of improvement of antibiotics, an immunological workup for SLE was initiated, which showed low CH50, C3, and C4; anti-nucleic acid antibody (ANA) was 1:1280, anti-double-stranded (anti-DS) DNA antibody not detected, and fluorescent ANA was positive. For severe NPSLE, rituximab is the most commonly utilized immunosuppressant; it was not utilized in this case due to the patient\'s insurance. The patient was placed on methylprednisolone and cyclophosphamide (CYC) infusion per ACR guidelines. Due to the toxic effects of CYC on the gonads, we offered ovarian preservation; however, the patient opted to refuse. The patient\'s mental status started to improve after three days of pulse steroids. The patient was advised to follow up with rheumatology for CYC therapy and a gradual taper of her steroids. NPSLE is a diagnosis of exclusion primarily based on expert opinion due to the absence of a gold standard diagnostic procedure. Disease-specific therapy, symptomatic therapy, nonpharmacological approaches, and correction of aggravating variables are all used to treat individuals with NPSLE.  This paper aims to contribute to the existing literature on NPSLE, with the intention to educate and strive for early detection and treatment. We hereby present an interesting case of SLE in a 23-year-old female who would not have responded to one treatment. Instead, she needed multidisciplinary management, along with poor compliance.

OBJECTIVE: Primary antiphospholipid syndrome (PAPS) is an autoimmune disorder characterized by thrombosis and pregnancy morbidity. Although PAPS is distinct from systemic lupus erythematosus (SLE), the two conditions share clinical features and susceptibility genes. Progression from PAPS to SLE is well-recognized. However, risk factors for this transition are poorly understood. We aimed to identify predictors of progression to SLE in patients with PAPS.
METHODS: A longitudinal single-center study was conducted at Hokkaido University Hospital from 1990 to 2021. Baseline characteristics including clinical features, laboratory data, aPL profiles were compared between patients who progressed to SLE (SLE group) and those who did not (non-SLE group).
RESULTS: Among 64 patients diagnosed with PAPS at baseline, nine (13.8%) progressed to SLE over a mean follow-up of 9 years (incidence rate, 1.61 per 100 person-years). At the diagnosis of PAPS, the SLE group had a higher prevalence of anti-phosphatidylserine/prothrombin antibodies (aPS/PT) and anti-dsDNA antibodies compared to the non-SLE group. Other clinical findings, autoantibody profiles, and serum complement levels were similar between the two groups. Multivariate Cox analysis showed that IgG aPS/PT was significantly associated with SLE development (Hazard ratio: 10.3, 95% CI: 1.13-92.6, p=0.04).
CONCLUSIONS: IgG aPS/PT may be a predictive factor for new-onset SLE in patients with PAPS, suggesting its utility in guiding risk stratification and monitoring strategies for these patients.

Electronic Health Records (EHRs) contain a wealth of unstructured patient data, making it challenging for physicians to do informed decisions. In this paper, we introduce a Natural Language Processing (NLP) approach for the extraction of therapies, diagnosis, and symptoms from ambulatory EHRs of patients with chronic Lupus disease. We aim to demonstrate the effort of a comprehensive pipeline where a rule-based system is combined with text segmentation, transformer-based topic analysis and clinical ontology, in order to enhance text preprocessing and automate rules\' identification. Our approach is applied on a sub-cohort of 56 patients, with a total of 750 EHRs written in Italian language, achieving an Accuracy and an F-score over 97% and 90% respectively, in the three extracted domains. This work has the potential to be integrated with EHR systems to automate information extraction, minimizing the human intervention, and providing personalized digital solutions in the chronic Lupus disease domain.

UNASSIGNED: Noonan syndrome (NS) and Noonan-like syndrome with loose anagen hair (NS/LAH) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. The aim of this retrospective study was to describe common and rare manifestations of NS and NS/LAH.
UNASSIGNED: We collected and analyzed clinical and genetic data from 25 patients with NS and NS/LAH.
UNASSIGNED: The patients\' median age was 6.3 years (range, 1-13 years), and the male-to-female ratio was 18:7. In total, 19 patients had NS caused by a mutation in PTPN11. Another causative gene was found in six patients, including two patients with a SHOC2 mutation, one patient with a KRAS mutation, one patient with an LZTR1 mutation, one patient with a BRAF mutation, and one patient with a PPP1CB mutation. Short stature was detected in 100% of the patients. This study provides an overview of the clinical features of NS, including unique facial features, short stature, congenital heart defects, and other manifestations. Notably, systemic lupus erythematosus (SLE) was found in two SHOC2-positive patients. One patient had a posterior urethral valve, which is very rare in NS patients.
UNASSIGNED: Our study identified several clinical features that were previously poorly related to NS, including SLE. We concluded that SHOC2-related NS is associated with a particularly high risk of SLE, which may have a significant impact on quality of life, and a posterior urethral valve is a novel phenotype. These findings could be helpful in enhancing the understanding of the clinical spectrum of NS.

Systemic lupus erythematosus (SLE) can adversely affect surgical outcomes, and the impact on revision total knee arthroplasty (TKA) outcomes is unclear. This study aimed to explore the impact of SLE on in-patient outcomes of revision TKA. The Nationwide Inpatient Sample (NIS) database from 2005 to 2018 was searched for patients aged ≥ 18 years old who received revision TKA. Patients with and without SLE were propensity score matched (PSM) at a 1:4 ratio. Associations between SLE and in-hospital outcomes were examined using regression analyses. The study included 133,054 patients, with 794 having SLE. After 1:4 PSM, data of 3,970 patients were analyzed (SLE, 794; non-SLE, 3,176). Multivariate-adjusted analyses revealed that SLE patients had a significantly higher risk of postoperative complications (adjusted odds ratio [aOR] = 1.23, 95% confidence interval [CI]: 1.05-1.44, p = 0.011), non-routine discharge (aOR = 1.22, 95% CI: 1.02-1.46, p = 0.028), major blood loss (aOR = 1.19), respiratory failure/mechanical ventilation (aOR = 1.79), acute kidney injury (AKI) (aOR = 1.47), and wound dehiscence (aOR = 2.09). SLE patients also had a longer length of hospital stay (aBeta = 0.31) and greater total hospital costs (aBeta = 6.35) compared to non-SLE patients. Among those with aseptic failure, SLE patients had a significantly higher risk of postoperative complications (aOR = 1.23) and non-routine discharge (aOR = 1.36). SLE is independently associated with worse in-hospital outcomes in patients undergoing revision TKA. This study highlights the importance of heightened vigilance and tailored perioperative management for patients undergoing major surgeries in the background of SLE. Key Points • SLE significantly increases the risk of non-routine discharge, major blood loss, respiratory failure, acute kidney injury, and wound dehiscence, in patients undergoing aseptic and septic revision TKA. • Patients with SLE experience longer hospital stays and higher hospital costs compared to those without SLE. • The study\'s findings highlight the necessity for healthcare providers to consider the presence of SLE as a critical factor in preoperative planning and postoperative care to improve outcomes in revision TKA patients.