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Inaugural Patient-Reported Registry of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: Presentation, Diagnosis, and Treatment of 194 Patients.
Pediatr Neurol
September 2024
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
Article Synopsis
- Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neuroimmune disorder, often misdiagnosed, with a peak onset at 18 months and a strong association with neural crest tumors in 50% of cases.
- The OMSLife Foundation partnered with the National Organization of Rare Diseases to create a patient-reported registry, collecting data from parents of 194 patients through online surveys about demographics, symptoms, and treatment.
- Findings revealed common initial symptoms like ataxia, a high rate of misdiagnosis (nearly 50%), and a median time to correct diagnosis of 25 days, while supporting the idea that patient-powered research can effectively contribute to understanding rare diseases like OMAS.
Systemic Capillary Leak Syndrome as a Paraneoplastic Syndrome.
Cureus
May 2024
Internal Medicine, Hospital Distrital de Santarém, Santarém, PRT.
Systemic capillary leak syndrome (SCLS) is a rare entity that is frequently idiopathic or, rarely, associated with infections, autoimmune diseases, drugs, surgery, and cancer. Several cancers can directly cause SCLS, although it is very uncommon as the inaugural presentation of a non-Hodgkin lymphoma. We report a case of SCLS as a paraneoplastic syndrome which revealed a large B-cell lymphoma, a non-Hodgkin lymphoma of B-cell origin.
View Article and Find Full Text PDFAcute myeloid leukemia with paraneoplastic pemphigus successfully treated with a personalized antileukemic and immunosuppressive strategy.
Ann Hematol
July 2024
Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, Roma, 200 - 00128, Italy.
Article Synopsis
- Bullous pemphigoid (BP) is a rare blistering skin disease that may signal underlying cancers, particularly hematological malignancies like acute myeloid leukemia (AML).
- A 28-year-old male patient with both BP and de novo AML was treated using a combination of immunosuppressive therapy and chemotherapy to effectively address both conditions.
- After aggressive treatment, the patient achieved full remission from AML and complete resolution of BP, along with normalized BP180 antibody levels after receiving an autologous stem cell transplant.
Anti-TIF1γ-Dermatomyositis and Sjögren's Syndrome As the Inaugural Presentation for Rectal Cancer.
Cureus
March 2024
Internal Medicine, Centro Hospitalar Lisboa Ocidental, Lisbon, PRT.
Dermatomyositis (DM) is an inflammatory myopathy often paraneoplastic in nature. Patients have characteristic cutaneous findings and possible muscle involvement. In the latter, muscle enzymes are elevated, and the electromyogram shows varied changes.
View Article and Find Full Text PDFAnti-IgLON5 Disease With Inaugural Bilateral Neuropapillitis.
Neurology
April 2024
From the Department of Neurology (S.D., F.H., C.B., A.R., B.A., A.M., J.P.), Centre Hospitalier la Timone, Aix Marseille Univ; French Reference Center on Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis (B.J., M.B., B.A., A.M., J.P.); Department of Neurology (B.J., M.B., B.A., A.M., J.P.), Centre Hospitalier Lyon Sud, Hospices Civils de Lyon; Department of Ophtalmology (N.S., B.A., A.M., J.P.), Centre Hospitalier la Timone, Aix Marseille Univ; Departement of Medical Biology (V.D., B.A., A.M., J.P.), Centre Hospitalier Lyon Sud, Hospices Civils de Lyon; and Aix Marseille Univ (B.A., A.M., J.P.), CNRS, CRMBM, Marseille, France.
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