We report a rare clinical presentation of a 54-year-old male diagnosed with infective endocarditis caused by , a nutritionally variant streptococcus (NVS) characterized by unique growth requirements and high pathogenic potential. The patient presented with prolonged fever and residual hemiparesis following an ischemic stroke. Blood culture confirmed , and imaging identified vegetations on a bicuspid aortic valve. Despite prompt antibiotic therapy, the course was complicated by acute intraventricular hemorrhage (IVH) and hydrocephalus, culminating in a fatal outcome. This report underscores the pathogenic challenges posed by , highlights its catastrophic complications, and reviews its presentation and management in the context of existing literature and emphasizing the importance of prompt diagnosis, tailored antibiotic therapy, and vigilant monitoring.
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http://dx.doi.org/10.53854/liim-3301-14 | DOI Listing |
Psychiatr Genet
February 2025
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems.
View Article and Find Full Text PDFEar Nose Throat J
March 2025
Department of Otorhinolaryngology, Tahar Sfar Hospital, Mahdia, Tunisia.
To describe the clinical and therapeutic features of fungal necrotizing otitis externa (NOE) as well as to identify the predictive factors of complications. This retrospective and monocentric study included 15 cases of fungal NOE treated in our ENT department between 2006 and 2024. Clinical, biological, microbiological, and imaging data were collected and evaluated.
View Article and Find Full Text PDFJMIR Form Res
March 2025
McLean Hospital, Harvard Medical School, 115 Mill Street, South Belknap, Belmont, US.
Background: Phenylketonuria (PKU) is a rare, hereditary disease that causes disruption in phenylalanine (Phe) metabolism. Despite early intervention, individuals with PKU may have difficulty in several different cognitive domains, including verbal fluency, processing speed, and executive functioning.
Objective: The overarching goal of the Evaluating Fluctuations in Cognitive and Speech Characteristics in Phenylketonuria study (CSP Study) is to characterize the relationships among cognition, speech, mood, and blood-based biomarkers (Phe, Tyr) in individuals with early treated PKU.
Eur J Pediatr
March 2025
Neonatal Intensive Care Unit, Clínica Universidad de Navarra, Madrid, Spain.
Purpose: This study aims to analyze global prescribing patterns for analgosedation in neonates during four critical care scenarios. The research explores existing patterns, their association with geographic and sociodemographic index (SDI), and adherence to evidence-based practices.
Methods: Data from a 2024 global survey of 924 responses to 28 questions were analyzed, focusing on four items for their high variability: premedication in intubation (Q17), sedation in preterm (Q19) and full-term newborns (Q23), and perinatal asphyxia (Q26).
Endocr Pathol
March 2025
Division of Oncology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Neuroendocrine tumors (NET) of the lung constitute a rare entity of primary lung malignancies that often exhibit an indolent clinical course. Epigenetics-related differences have been described previously for lung NET, but the clinical significance remains unclear. In this study, we performed genome-wide methylation analysis using the Infinium MethylationEPIC BeadChip technology on FFPE tissues from lung NET treated at two academic centers.
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