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[Diagnostic and therapeutic perspectives in RASopathies].
Magy Onkol
December 2024
Gyermekgyógyászati Klinika, Semmelweis Egyetem, Tűzoltó utcai Részleg, Budapest, Hungary.
RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function of a key protein involved in Ras signalling is impaired, leading to disrupted regulation of cell growth and division.
View Article and Find Full Text PDFMacular edema in Wyburn-Mason syndrome: Resolution with anti-VEGF intravitreal injections. Case report and review of the literature.
Am J Ophthalmol Case Rep
December 2024
Department of Ophthalmology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Purpose: Macular edema is an infrequent complication of retinal arteriovenous malformations. We present the management of unilateral macular edema with Bevacizumab 1.25mg/0.
View Article and Find Full Text PDFPhenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatr Dermatol
December 2024
Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
A 34-year-old male patient presented with a clinical picture of multilocular subcutaneous skin nodules in addition to marked lymphadenopathy and general physical deterioration. A comprehensive diagnostic workup including serology, skin biopsy and imaging studies led to the initial diagnosis of human immunodeficiency virus (HIV) infection in AIDS stage with rare multilocular subcutaneous bacillary angiomatosis (BA) caused by Bartonella henselae. BA describes a process of neovascularisation of the skin or of internal organs (particularly the liver and spleen) and was first described in HIV-positive patients by Stoler et al.
View Article and Find Full Text PDFArticle Synopsis
- Bartonella quintana infection can cause serious health issues like bacillary angiomatosis and culture-negative endocarditis, mainly affecting individuals who are homeless.
- In a study conducted in New York City between January 2020 and November 2023, five cases of left-sided, culture-negative endocarditis were identified in unsheltered homeless persons using molecular methods.
- Most patients had serious complications and a history of body louse exposure, highlighting the need for clinicians to consider housing status and potential lice infestation when diagnosing and treating suspected cases.
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