Anti-Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years): A Single-Center Experience.

BACKGROUND: Antisynthetase syndrome is characterized by a triad of myositis, arthritis, and interstitial lung disease. Anti-Jo-1 is the most common associated autoantibody. This study planned to look at the presentation of anti-Jo-1 antisynthetase syndrome in a single Indian center. METHODS AND MATERIALS: This was a medical records review single-center study that included patients with anti-Jo-1 antisynthetase syndrome over 10 years. RESULTS: This study included 27 patients with anti-Jo-1 antisynthetase syndrome, with mean age of 40 ± 9.2 years and female preponderance (female-to-male ratio, 4:1). At presentation, the characteristic triad was present in only 4 patients. A majority presented with the incomplete form, with 2 clinical features (of triad) in 11 and single feature (of triad) being present in 12 patients at initial presentation. Seven presented only with polyarthritis, out of which 6 had been earlier diagnosed as rheumatoid arthritis. Time gap from diagnosis of "rheumatoid arthritis" to antisynthetase syndrome ranged from 3 to 20 years. In patients who had only arthritis in the beginning, there was a significantly longer delay to diagnosis of antisynthetase syndrome, higher frequency of rheumatoid factor, and lower frequency of anti-Ro-52. Overall, outcome was good, with Eastern Cooperative Oncology Group class 1 or 2 in most except 2 patients. CONCLUSIONS: Anti-Jo-1 antisynthetase syndrome commonly presented as incomplete (not a triad) and often only with arthritis. These patients are diagnosed and treated as rheumatoid arthritis for many years, before a diagnosis of antisynthetase syndrome is made. Being aware of this presentation may help in earlier diagnosis by actively searching for subtle clues.

Pulmonary Cryptococcoma Masquerading as Lung Cancer.

We report a case of pulmonary cryptococcoma, in an adult with recently detected diabetes, mimicking as lung cancer. A 45-year-old gentleman with past history of pulmonary tuberculosis presented with fever, cough with expectoration, pleuritic chest pain and hemoptysis. Chest radiograph and computed tomography revealed right lower lobe mass which significantly enhanced on contrast administration. Ultrasound guided biopsy was done which on histopathological examination showed non-necrotizing granulomas with narrow-based budding yeast cells suggestive of cryptococcosis. Detailed work-up for dissemination of infection was negative. A dramatic response to anti-fungal treatment was observed and the patient is doing fine on follow-up.

An Interesting Case of Bilateral Lung Consolidation.

Organising pneumonia is a histopathological entity characterised by intra-alveolar buds of granulation tissue, intermixed myofibroblasts and connective tissue. Cryptogenic organising pneumonia (COP) is characterised by this particular histopathological pattern, along with typical clinical and imaging features, when no other underlying aetiology is found. COP (previously known as bronchiolitis obliterans organising pneumonia [BOOP]) is one of the rare variants of interstitial pneumonias. This condition is characterised by a rapid clinical and radiological improvement with steroid treatment. Here we are reporting a case of COP in adult female with discussion on approach and basic pathophysiology of this type of pneumonia.

Full-house nephropathy in antinuclear antibody-negative systemic lupus erythematosus: A case report.

Key Clinical Message: Antinuclear antibody-negative full-house lupus nephritis though previously reported, is fairly uncommon. Some patients go on to develop antibodies later in the disease course. The presence of RO-52 antibody in this case suggests an underlying immunological cause. Swift management based on strong clinical suspicion can be life-saving to the patient. Abstract: Lupus nephritis (LN) is a serious complication of systemic lupus erythematosus (SLE) and is more likely to progress to end-stage renal disease (ESRD). With the recent EULAR/ACR criteria mandating antinuclear antibody (ANA) positivity as an entry criterion, clinicians are faced with a diagnostic dilemma in diagnosing cases of seronegative SLE. We present the case of a 25-year-old female who presented with photosensitive malar rash, hair loss, oral ulcers, menorrhagia, and kidney dysfunction, suggestive of SLE. Her ANA tests were negative, raising doubts about the diagnosis. Biopsy was delayed owing to anemia and thrombocytopenia, and clinical judgment led to the patient being diagnosed with LN, with prompt treatment resulting in significant improvement. Renal biopsy subsequently confirmed the case as diffuse class IV LN with full-house nephropathy. This case highlights the limitations of relying solely on ANA positivity in diagnosing LN and underscores the need for a comprehensive diagnostic approach for SLE that incorporates clinical features, immunological markers, and patient demographics. ANA-negative SLE patients demand heightened clinical suspicion, especially when other diagnostic parameters align with the disease. Swift intervention with immunosuppressive therapy, as seen in this case, can be life-saving.

Choroidal Thickness Measurement in Systemic Lupus Erythematosus Patients with or Without Ocular Manifestation.

BACKGROUND: Systemic Lupus Erythematosus is a multi-systemic disease that has a high morbidity rate. Choroids usually have a distinct structural makeup in different systemic disorders which makes it easier to be used as a potential tool for the study of disease activity. METHODS: This study was an observational cross-sectional prospective study with a total of 51 Systemic Lupus Erythematosus patients and 51 normal controls were included. The choroidal thickness values were determined using the Spectralis Spectral Domain Optical Coherence Tomography instrument (Heidelberg Engineering). RESULTS: The results showed that the mean subfoveal, nasal, and temporal choroidal thickness in Systemic Lupus Erythematosus patients with ocular manifestations had thinner choroidal thickness compared to normal controls with p<0.001, p=0.008, and p<0.001, respectively. On the other hand, Systemic Lupus Erythematosus patients without ocular manifestations had relatively thicker subfoveal choroidal thickness compared to normal controls (p<0.001) but nasal and temporal choroidal thickness were not statistically significant (p=0.264 and p=0.347 respectively). CONCLUSIONS: The findings suggested that choroidal thickness measurement may serve as an indicator of disease activity and prognosis in Systemic Lupus Erythematosus patients, as well as a potential tool to predict the occurrence of ocular manifestations. Thinning of the choroid may be associated with factors such as decreased blood flow leading to atrophy or chronic inflammation, while thickening of the choroid may indicate active stage of the disease and the possibility of severe ocular manifestations in the future.

Protease activated receptor-1 regulates mixed lineage kinase-3 to drive triple-negative breast cancer tumorigenesis.

Triple-negative breast cancer (TNBC) is difficult to treat breast cancer subtype due to lack or insignificant expressions of targetable estrogen receptor (ER) and human epidermal growth factor receptor 2 (HER2). Therefore, finding a targetable protein or signaling pathway in TNBC would impact patient care. Here, we report that a member of the Mixed Lineage Kinase (MLK) family, MLK3, is an effector of G-protein-coupled protease-activated receptors 1 (PAR1) and targeting MLK3 by a small-molecule inhibitor prevented PAR1-mediated TNBC tumorigenesis. In silico and immunohistochemistry analysis of human breast tumors showed overexpression of PAR1 and MLK3 in TNBC tumors. Treating α-thrombin and PAR1 agonist increased MLK3 and JNK activities and induced cell migration in TNBC cells. The PAR1 positive/high (PAR1+/hi) population of TNBC cells showed aggressive tumor phenotype with increased MLK3 signaling. Moreover, combined inhibition of the PAR1 and MLK3 mitigated the TNBC tumor burden in preclinical TNBC models. Our data suggests that activation of the PAR1-MLK3 axis promotes TNBC tumorigenesis. Therefore, combinatorial therapy targeting MLK3 and PAR1 could effectively reduce TNBC tumor burden.

Concurrent occurrence of acute pancreatitis and intracerebral hemorrhage as presenting manifestations in lupus: a case report.

Systemic lupus erythematosus (SLE) is a rare autoimmune condition that may affect almost every organ system and has a wide range of disease severity. It is characterized by a spectrum of clinical manifestation, a plethora of autoantibodies, and immune complex formation. The symptoms can come from any organ system, alone or in a group, and they can be of any severity, which makes diagnosis and prognosis difficult. Case presentation: The authors hereby present the case of an 18-year-old female with chief complaints of fever, abdominal pain, headache, vomiting, and loss of vision. She was diagnosed with acute pancreatitis (AP) and intracerebral hemorrhage (ICH) with an etiology linked to SLE. SLICC criterion was used to diagnosed SLE while ATLANTA criteria for AP and neuro-radiological findings for ICH. Emergency temporo- parietal-occipital-osteoplastic craniotomy was done for ICH as well as started with immunosuppressive therapy for SLE. On the 18th day of admission, she was discharge with maintenance medications for SLE. While the vision took over a month to come to a premorbid state, she was clinically improved within 2 weeks of admission. Clinical discussion: Clinical manifestation of SLE vary greatly. AP and intracranial bleeding are few of the rare presentation of SLE. Acute presentation of both conditions in an otherwise healthy individual in the initial course of disease left the clinician with a wide array of differentials. Literature shows very little evidence of co-occurrence of ICH and pancreatitis as an initial manifestation in SLE patients. The exclusive diagnosis of these potentially fatal condition is made holistically with clinical, biochemical, and radiological parameters. Conclusion: SLE may present with atypical, life-threatening initial manifestations. Early diagnosis and timely intervention in therapy can lead to successful management. The treating physician must consider, SLE when a straightforward diagnosis is associated with inexplicable multiple concomitant abnormalities, especially in young women.