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Rare case of wtTTR amyloidosis and MGUS in a patient with lung adenocarcinoma.
BMJ Case Rep
December 2024
Hematology Oncology, Cleveland Clinic, Cleveland, Ohio, USA
Amyloidosis is a rare, multisystem disease that leads to deposition of misfolded proteins in various organs. This case report presents a patient with cancer with a rare diagnosis of diffuse alveolar-septal transthyretin (TTR) amyloidosis with subsequent protein electrophoresis identifying monoclonal gammopathy of unknown significance. It highlights the association of amyloidosis with malignancy and the importance of including workup for plasma cell dyscrasias in patients found to have TTR amyloidosis.
View Article and Find Full Text PDFHeterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.
J Clin Immunol
November 2024
Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.
Article Synopsis
- TRAF3 is an adaptor protein involved in immune signaling pathways, and deficiencies in TRAF3 can lead to serious health issues, like recurrent infections and autoimmune conditions.
- A recent study reanalyzed genetic data from patients with immune disorders and discovered three new cases of TRAF3 mutations, which had previously been misdiagnosed as common variable immunodeficiency (CVID).
- These findings highlight the importance of targeted genetic reanalysis in understanding different clinical presentations of TRAF3 deficiency, and they provide new insights for further research on immune-related diseases.
Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.
J Investig Med High Impact Case Rep
October 2024
Rheumatology Pediatric Department, Children's Damascus University Hospital, Damascus, Syria.
Article Synopsis
- A 10-year-old Syrian boy presents with mutations in both Mediterranean fever and mevalonate kinase genes, leading to symptoms of two rare conditions, Familial Mediterranean Fever (FMF) and Hyperimmunoglobulinemia D syndrome (HIDS).
- His symptoms include intermittent fever, recurrent respiratory infections, anemia, and growth failure, with an initial misdiagnosis of Still's disease and subsequent ineffective treatment.
- Genetic analysis shows significant mutations and the child's condition improves with corticosteroids and infliximab, though growth issues remain, raising questions about the interplay of the two genetic mutations in his clinical presentation.
From MGUS to multiple myeloma: Unraveling the unknown of precursor states.
Blood Rev
November 2024
Myeloma Institute, Sylvester Comprehensive Cancer Center, Division of Myeloma, University of Miami, Miami, FL, United States of America. Electronic address:
Article Synopsis
- In the 1960s, Dr. Waldenström identified "benign monoclonal gammopathy," a condition in asymptomatic patients with detectable monoclonal protein, which later led to the recognition of its potential progression to multiple myeloma by Dr. Kyle in 1978, coining the term MGUS.
- Following this, Drs. Kyle and Greipp in 1980 proposed the term "smoldering multiple myeloma" (SMM) for asymptomatic cases that didn't fit existing definitions, establishing criteria based on plasma cell percentage and serum protein levels.
- Current research focuses on advanced technologies (like whole genome sequencing) to enhance understanding of monoclonal gammopathy and improve individualized
Curative Strategy for High-Risk Smoldering Myeloma: Carfilzomib, Lenalidomide, and Dexamethasone (KRd) Followed by Transplant, KRd Consolidation, and Rd Maintenance.
J Clin Oncol
September 2024
Cancer Center Clinica Universidad de Navarra (CCUN), CIMA, IDISNA, CIBERONC, Pamplona, Spain.
Purpose: Early treatment of high-risk smoldering myeloma has been shown to delay progression to multiple myeloma (MM). We conducted this trial with curative intention using a treatment approach employed for newly diagnosed patients with MM.
Methods: Patients with high-risk smoldering myeloma (>50% progression risk at 2 years) and transplant candidates were included and received induction therapy with carfilzomib, lenalidomide, and dexamethasone (KRd), six cycles, followed by high-dose melphalan (200 mg/m) autologous stem-cell transplantation (HDM-ASCT), two KRd consolidation cycles, and Rd maintenance for 2 years.
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