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Intracranial Internal Carotid Artery Pseudoaneurysm: A Narrative Review and Update for Otolaryngology Residents.
Indian J Otolaryngol Head Neck Surg
January 2025
Department of Otorhinolaryngology and Head-Neck Surgery, All India Institute of Medical Sciences (AIIMS), Room 4057, 4th Floor, Academic Block, New Delhi, India.
Massive epistaxis due to rupture of Intracranial Internal carotid artery (ICA) pseudoaneurysm is rarely encountered in Otolaryngology emergency but when it does, it requires immediate action. To provide an update on the approach toward diagnosis and management of patients with ruptured intracranial ICA pseudoaneurysm from an otolaryngologist perspective. The PubMed library was searched for previously published reviews, systematic reviews, or meta-analyses for intracranial ICA pseudoaneurysm, and a narrative review was formulated with a focus on Otolaryngology practice.
View Article and Find Full Text PDFUnilateral posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare case.
Ophthalmic Genet
February 2025
Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Kalapatti, Coimbatore.
Background: Bloom's syndrome (BS) a rare, autosomal recessive disorder is a genodermatosis characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early cancer. Loss-of-function mutations of BLM gene, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome 10 instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic for the syndrome.
View Article and Find Full Text PDFDurable response to treatment of an atypical desmoplastic small round cell tumor with enfortumab-vedotin.
J Cancer Res Clin Oncol
February 2025
Feinberg School of Medicine, Department of Medicine, Division of Oncology, Northwestern University, Chicago, IL, USA.
Background: Desmoplastic small round cell tumor is a rare sarcoma type with poor prognosis for which there is no standard of care. It primarily affects adolescents and young adults and treatment is both multimodal and challenging due to the aggressive nature of the disease.
Case Presentation: we describe a case of a 27-year-old male who presented with hematuria and a five-centimeter mass on his bladder wall.
Plasma extracellular vesicle pathognomonic proteins as the biomarkers of the progression of Parkinson's disease.
Biosci Trends
March 2025
Department of Neurology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
Parkinson's disease (PD) is a progressive neurodegenerative disorder for which reliable blood biomarkers to predict disease progression remain elusive. Plasma extracellular vesicles (EVs) have gained attention as a promising biomarker platform due to their stability and ability to cross the blood-brain barrier. This study explored the potential of EV-cargo proteins, specifically α-synuclein, tau, and β-amyloid, as biomarkers of PD progression.
View Article and Find Full Text PDFPerivascular glial reactivity is a feature of phosphorylated tau lesions in chronic traumatic encephalopathy.
Acta Neuropathol
February 2025
Department of Anatomy and Medical Imaging and Centre for Brain Research, Faculty of Medical and Health Science, University of Auckland, 85 Park Road, Grafton, 1023, Auckland, New Zealand.
Chronic traumatic encephalopathy (CTE), a neurodegenerative disease associated with repetitive head injuries, is characterised by perivascular hyperphosphorylated tau (p-tau) accumulations within the depths of cortical sulci. Although the majority of CTE literature focuses on p-tau pathology, other pathological features such as glial reactivity, vascular damage, and axonal damage are relatively unexplored. In this study, we aimed to characterise these other pathological features, specifically in CTE p-tau lesion areas, to better understand the microenvironment surrounding the lesion.
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