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Biomedical subjects

Mrinal M Patnaik

Publications and source records attributed to Mrinal M Patnaik.

5 recordsLinked to original sources

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.

OBJECTIVE: Vacuoles E1 enzyme X-linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality. METHODS: Given the variability in disease presentation and the limited number of studies to date, no clinical documents currently exist to provide guidance to health care providers about the management of VEXAS. To address this gap, we formed an international multidisciplinary panel of VEXAS experts. RESULTS: Through formalized meetings and a voting process, the group developed consensus clinical guidance considerations for the management of VEXAS. These considerations offer practical advice on several key topics: (1) clinical features of VEXAS, (2) UBA1 screening methods, (3) the diagnosis of myelodysplastic syndromes (MDSs) in patients with VEXAS, and (4) prognosis and management. The aim is to provide expert guidance on which patients to test, how to test for VEXAS, how to approach MDS in the context of VEXAS, and considerations for management. CONCLUSION: This work marks the first formal international consensus guidance for VEXAS and is intended to be used as a resource for clinicians seeking to understand the disease and its management.

Humans↗

Eosinophilia: secondary, clonal and idiopathic.

Blood eosinophilia signifies either a cytokine-mediated reactive phenomenon (secondary) or an integral phenotype of an underlying haematological neoplasm (primary). Secondary eosinophilia is usually associated with parasitosis in Third World countries and allergic conditions in the West. Primary eosinophilia is operationally classified as being clonal or idiopathic, depending on the respective presence or absence of a molecular, cytogenetic or histological evidence for a myeloid malignancy. The current communication features a comprehensive clinical summary of both secondary and primary eosinophilic disorders with emphasis on recent developments in molecular pathogenesis and treatment.

Benzamides↗

Nonopportunistic neurologic manifestations of the human immunodeficiency virus: an Indian study.

CONTEXT: HIV-1 is a neurotropic virus. In a resource-limited country such as India, large populations of affected patients now have access to adequate chemoprophylaxis for opportunistic infections (OIs), allowing them to live longer. Unfortunately the poor availability of highly active antiretroviral therapy (HAART) has allowed viral replication to proceed unchecked. This has resulted in an increase in the debilitating neurologic manifestations directly mediated by the virus. OBJECTIVE: The main objective of this study was to identify and describe in detail the direct neurologic manifestations of HIV-1 in antiretroviral treatment (ART)-naive, HIV-infected patients (excluding the neurologic manifestations produced by opportunistic pathogens). DESIGN: Three hundred successive cases of HIV-1 infected, ART-naive patients with neurologic manifestations were studied over a 3-year period. Each case was studied in detail to identify and then exclude manifestations due to opportunistic pathogens. The remaining cases were then analyzed specially in regard to their occurrence and the degree of immune suppression (CD4+ cell counts). SETTINGS AND PATIENTS: The study was carried out in an apex, tertiary, referral care center for HIV/AIDS in India. All patients were admitted for a detailed analysis. No interventions were carried out, as this was an observational study. RESULTS: Of the 300 cases, 67 (22.3%) had neurologic manifestations due to the direct effects of HIV-1. The HIV infection involved the neuroaxis at all levels. The distribution of cases showed that the region most commonly involved was the brain (50.7%). The manifestations included stroke syndromes (29.8%), demyelinating illnesses (5.9%), AIDS dementia complex (5.9%), and venous sinus thrombosis (4.4%). The other manifestations seen were peripheral neuropathies (35.8% of cases), spinal cord pathologies (5.9% of cases), radiculopathies (4.4% of cases), and a single case of myopathy. The onset of occurrence of these diseases and their progression were then correlated with the CD4+ cell counts. CONCLUSIONS: HIV infection is responsible for a large number of nonopportunistic neurologic manifestations that occur across a large immune spectrum. During the early course of the disease, the polyclonal hypergammaglobulinemia induced by the virus results in demyelinating diseases of the central- and peripheral nervous systems (CNS and PNS). As the HIV infection progresses, the direct toxic effects of the virus unfold, directly damaging the CNS and PNS, resulting in protean clinical manifestations.

AIDS-Related Opportunistic Infections↗

Thrombotic microangiopathies presenting as an obstetric emergency.

Thrombotic microangiopathies are disorders that arise due to a diffuse endothelial damage. They predominantly manifest either as thrombotic trombocytopenic purpura (TTP) or hemolytic uremic syndrome (HUS). When they arise as a complication of pregnancy and associated disorders they are associated with a high mortality and morbidity.

Adult↗