Publications by authors named "Saket Jha"

Hemophagocytic lymphohistiocytosis (HLH), is a fatal systemic hyperinflammatory syndrome. HLH may be due to immunosuppression, infections, cancer, or autoimmune diseases with fever and cytopenia. HLH which occurs in adult-onset Stills disease (AOSD) is called secondary HLH, also known as macrophage activation syndrome (MAS).

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The oncoimmunology research has witnessed notable advancements in recent years. Reshaping the tumor microenvironment (TME) approach is an effective method to improve antitumor immune response. The T cell-mediated antitumor response is crucial for favorable therapeutic outcomes in several cancers.

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Background: The ACR in 2021 and the EULAR in 2022 published recommendations for management of ANCA-associated vasculitis. Given the differences in the demographic, clinical profiles, and the socio-economic realities between various countries, there is a need for development of guidelines for the management of AAV for less economically developed regions of the world.

Methods: These guidelines were made following the GRADE methodology.

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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.

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Article Synopsis
  • Antinuclear antibody-negative lupus nephritis is rare, and some patients may develop antibodies later, indicating underlying immune issues.
  • A case study of a 25-year-old woman with lupus symptoms but negative ANA tests emphasizes the need for a holistic approach in diagnosing lupus nephritis, rather than relying solely on serological tests.
  • Early intervention with immunosuppressive treatment led to significant improvement, highlighting the importance of swift management in potentially life-saving situations for patients with suspected lupus nephritis.
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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.

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Bilateral single system ectopic ureters are a rare entity in paediatric urology. We report a girl child with bilateral single system ectopic ureters with right system opening into the vagina, who presented at 3.5 years with continuous dribbling of urine & a small capacity bladder.

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  • Bullous SLE is a rare condition featuring subepidermal blisters.
  • A case study is presented of a 24-year-old female with bullous SLE who showed improvement after treatment with glucocorticoids, mycophenolate mofetil, and dapsone.
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Unlabelled: 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.

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Article Synopsis
  • - Aortic aneurysm is a serious condition more common in patients with systemic lupus erythematosus (SLE), often diagnosed through imaging due to vague symptoms.
  • - Management involves medication for inflammation and high blood pressure, as well as surgery for larger or symptomatic aneurysms, with ongoing monitoring for complications.
  • - The case of a 49-year-old woman highlights the risk of aneurysm rupture, emphasizing the need for vigilant monitoring and timely medical intervention to prevent fatal outcomes.
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Unlabelled: Granulomatosis with polyangiitis (GPA) is an ANCA-associated autoimmune disorder that typically affects small and/or medium-sized blood vessels. Being a life-threatening disease, with timely suspicion, targeted laboratory investigations, and collaborative management from the ophthalmologist and rheumatologist led to long-term remission of the disease.

Case: A 38-year-old female complaining of recurrent deep boring pain with redness in her left eye for many years, which was diagnosed as nodular scleritis with peripheral ulcerative keratitis.

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We report the case of a 62-year-old man who presented with shortness of breath, cough, bilateral lower limbs' swelling, and blackish discoloration of multiple fingertips over the past 2 months. Anti-Ribonucleoprotein antibodies were found to be present, and gadolinium-based cardiac MRI showed non-vascular subendocardial enhancement with diffuse symmetrical thickening of the left ventricular wall. A diagnosis of Mixed connective tissue disease with secondary cardiac amyloidosis was thus made, and the patient was successfully managed with intravenous cyclophosphamide, corticosteroids, and other supportive measures.

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Unlabelled: Sarcoidosis is an idiopathic, multisystemic granulomatous disorder involving the eye with various ocular presentations, the most common being sarcoid uveitis. The diagnosis was based on typical clinical features, chest radiography, laboratory findings and biopsy based on revised International Workshop on Ocular Sarcoidosis criteria. Here in, the authors aim to present the first report on the trend of cases of sarcoid uveitis in Nepal.

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Article Synopsis
  • Uveitis is a serious eye condition that can severely impact one's quality of life, but recent advances in treatment, especially with biologics, have made a significant difference.
  • Biologics, like tumor necrosis factor-α inhibitors and other specific inhibitors, are particularly effective for noninfectious uveitis when traditional treatments fail or are poorly tolerated.
  • A study of 10 patients demonstrated that most responded positively to biologic treatments, with no recurrences noted after a year of follow-up.
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Organizing pneumonia (OP) is one of the rare pulmonary manifestations of systemic lupus erythematosus (SLE) which is infrequently reported as a presenting manifestation. Early diagnosis of lupus-related OP with the help of imaging, can drive to prompt initiation of immunosuppressive therapy leading to a better prognosis. We present a case of a 34-year-old young male who presented with fever, myalgia, and a dry cough for 1 month and was later diagnosed as SLE-related organizing pneumonia.

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Mitogen-activated protein kinase (MAPK) cascades are crucial in extracellular signal transduction to cellular responses. The classical three-tiered MAPK cascades include signaling through MAP kinase kinase kinase (MAP3K) that activates a MAP kinase kinase (MAP2K), which in turn induces MAPK activation and downstream cellular responses. The upstream activators of MAP3K are often small guanosine-5'-triphosphate (GTP)-binding proteins, but in some pathways, MAP3K can be activated by another kinase, which is known as a MAP kinase kinase kinase kinase (MAP4K).

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Purpose: To present a case of extrapulmonary sarcoidosis presenting with ocular and cutaneous involvement.

Observations: We report a 54-year-male who presented with bilateral redness of eyes, photophobia, and diminished vision for a week. The best corrected visual acuity in the right eye was 6/60 and the left eye was counting fingers close to face (CFCF).

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Unlabelled: Neurologic manifestations in primary Sjögren syndrome (SS) range in prevalence from 8 to 49%, and most of the studies suggest a prevalence of 20%. The incidence of SS patients developing movement disorders is about 2%.

Case Presentation: The authors herein report a case of a 40-year-old lady with MRI of the brain mimicking autoimmune encephalitis in SS who presented with chorea.

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Introduction: Ocular and orbital involvement in Granulomatosis with polyangiitis (GPA) is common. GPA can lead to life and sight threatening complications due to necrosis and tissue melting.

Cases: We report four cases presenting with ocular pain and redness for varied durations.

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ANCA-associated vasculitis (AAV) is a life-threatening disease characterized by small vessel inflammation and pathogenic self-directed antibodies. Programmed death-ligand 1 receptor (PD-1) and programmed cell death ligand-1 (PD-L1) are immune checkpoint molecules crucial for maintaining tolerance and immune homeostasis. After checkpoint inhibition therapy, development of various autoimmune diseases and immune-related adverse events (irAEs) have been observed.

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Eosinophilia can be caused by various conditions, parasitic infection being the most common cause. Here, we present a case of a 17-year male who presented with multisystem involvement and eosinophilia. He was later diagnosed to have systemic lupus erythematosus with eosinophilia which is a rare combination.

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Aim: To study the expression of B cell-activating factor of tumor necrosis factor family (BAFF) and A proliferation-inducing ligand (APRIL) genes in active and remitting patients with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) and healthy controls and their correlation with disease activity.

Methods: This was a prospective case-control study. Gene expressions of BAFF and APRIL were studied in 32 patients with AAV (16 each with active disease and in remission) and 30 healthy age and sex matched controls by real-time polymerase chain reaction.

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Article Synopsis
  • - Barraquer-Simons syndrome is a rare condition that leads to gradual loss of fat tissue in the face and upper body.
  • - It is often linked with autoimmune diseases, including systemic lupus erythematosus.
  • - Patients need regular monitoring to catch any serious health issues, like metabolic imbalances and kidney problems.
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The timely diagnosis of the disease helps in preventing the progression of RF and unnecessary interventions that may mislead the diagnosis. Biopsy and serum IgG4 both can be non-specific.

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Objective: Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India.

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