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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Case of a Young Male Recruit With Chest Pain Leading to Entry-Level Separation and Career Termination.
Cureus
December 2024
Critical Care, Captain James A. Lovell Federal Health Care Center, Rosalind Franklin University of Medicine and Science, North Chicago, USA.
This is a case of a young, 20-year-old, male Navy recruit who was admitted to our healthcare facility with intermittent atypical chest pain and limiting exertional symptoms and was diagnosed with myocardial bridging (MB) as the most likely etiology of his chest after the complete cardiac workup, leading to his career limitations due to potential risks. Our patient presented with atypical chest pain and limiting exertional symptoms. Chest pain was non-radiating.
View Article and Find Full Text PDFMycetoma is a neglected tropical disease that predominantly affects individuals in low socioeconomic strata, primarily in tropical and subtropical regions. This case report describes a 20-year-old male student from Bahdo City, Somalia, who presented with a persistent cervical mass following a history of trauma. The patient exhibited vital signs within normal limits, and imaging studies, including ultrasound and computed tomography, revealed well-defined cystic masses.
View Article and Find Full Text PDFSingle-Session Surgical Intervention with Resection of a Primary Cranial Osteosarcoma and Cranioplasty using a 3D-Printed Craniotomy Template and Cranioplasty Molds.
J Neurol Surg Rep
January 2025
Department of Neurosurgery, Hospital of the German Armed Forces, Westerstede, Germany.
Although osteosarcomas are the most frequent primary malignant bone tumors, the primary cranial manifestation of this condition is very rare with only a limited number of cases presented in the literature. We present the case of a 20-year-old male patient who underwent single-session surgical intervention for resection of right frontal osteosarcoma with a tailor-made craniotomy and cranioplasty using virtually designed 3D-printed templates and molds. Subsequently, the patient was treated according to the EURAMOS protocol and received adjuvant systemic chemotherapy.
View Article and Find Full Text PDFImmune Reconstitution Inflammatory Syndrome-Induced Thrombocytopenia in a Patient With HIV and Coccidioidomycosis.
Cureus
December 2024
Internal Medicine, Kern Medical, Bakersfield, USA.
Highly active antiretroviral therapy (HAART) is imperative in managing human immunodeficiency virus (HIV) infections. HAART aims to inhibit viral replication and improve immunity. Antiretroviral therapy has led to significant improvement in CD4-T cell counts and reductions in viral load, leading to improved overall immune function, increased survival, and decreased frequency of opportunistic infections.
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