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| http://dx.doi.org/10.4103/0301-4738.109391 | DOI Listing |
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VA Boston Healthcare System, Jamaica Plain, MA, USA.
Background: Mixed dementia type - Alzheimer's Disease (AD), cerebral amyloid angiopathy (CAA), and vascular - is vastly recognized as a cause of dementia in older adults. Whereas CAA, primarily leptomeningeal, is a frequent complication in hereditary transthyretin cardiac amyloidosis (TTRCA), it is unusually reported in association with wild-type TTR, with or without polyneuropathy. The knowledge of mixed dementia and wild-type TTR association is even scarcer.
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Department of Oncology, Mayo Clinic, Rochester, MN, USA.
Background: Thymoma is a rare mediastinal neoplasm originating from thymic epithelial cells, often associated with paraneoplastic syndromes. These syndromes can manifest as a range of autoimmune disorders, including myasthenia gravis, pure red cell aplasia, and aplastic anemia. Clinical trials involving the use of immune checkpoint inhibitors (ICIs) in thymoma have been complicated by a high incidence of immune-related adverse effects (irAEs).
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View Article and Find Full Text PDFShort-process incudo-stapedioplasty in congenital ear malformation.
Laryngoscope Investig Otolaryngol
February 2025
Department of Otolaryngology-Head and Neck Surgery, Dentistry and Pharmaceutical Sciences Okayama University Graduate School of Medicine Okayama Japan.
Objectives: Although various stapedotomy and stapedectomy techniques exist, anchoring the piston can be challenging. We present a novel surgical approach for treating congenital stapes malformations with an atypical facial nerve trajectory.
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Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.
Ther Adv Rare Dis
January 2025
Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD.
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