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Invasive Infections in Children: Two Cases from a Pediatric Infectious Diseases Unit in Italy.
Pathogens
December 2024
Pediatric Infectious Disease Unit, Children's Hospital of Parma, 43126 Parma, Italy.
In recent years, an increasing number of reports have described invasive infections caused by bacteria from (SAGs). seems to be more related with pleuropulmonary infections and abscess of the brain and deep soft tissues, and it is more likely to cause suppurative and non-bacteremic infections compared to other members of the same genus. We present two clinical cases of invasive infections in pediatric patients: a liver abscess case and a pansinusitis case associated with bilateral otomastoiditis and parapharyngeal abscess complicated by acute mediastinitis, thrombophlebitis of the cavernous sinus, and thrombosis of the cranial tract of the ipsilateral jugular vein.
View Article and Find Full Text PDFCase report on activated PI3K-delta syndrome.
Bol Med Hosp Infant Mex
September 2024
Departamento de Genética Médica, Hospital General de Zona N° 20.
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 newborns. The main clinical features of APDS are sinopulmonary infections, benign lymphoproliferation, autoinflammatory disease, and a major risk of lymphoid neoplasms.
View Article and Find Full Text PDFPneumocephalus: A Rare Complication of Sinusitis in a Pediatric Patient.
Cureus
July 2024
Emergency Medicine, Mercy Health - St. Rita's Medical Center, Lima, USA.
Pneumocephalus is uncommon, mostly arising as a result of surgery, trauma, infection, or neoplasm. Spontaneous occurrence is extremely rare and few case studies have been published. Pneumocephalus may also present as a complication of sinusitis and is a potential emergency.
View Article and Find Full Text PDFA case of central sleep apnea associated with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids.
J Clin Sleep Med
December 2024
University of Florida, Gainesville, Florida.
Unlabelled: A 78-year-old man with history of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids syndrome, moderate persistent asthma, pansinusitis, and upper airway cough syndrome presented to the sleep medicine clinic for evaluation of sleep-disordered breathing. Brain magnetic resonance imaging showed lesions in the pons and midbrain. Diagnostic polysomnography was remarkable for central sleep apnea.
View Article and Find Full Text PDFCharacterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
Arthritis Rheumatol
November 2024
The Second Affiliated Hospital, Zhejiang University School of Medicine and Liangzhu Laboratory, Zhejiang University, Hangzhou, China.
Article Synopsis
- - The study explores a novel variant of the PLCG2 gene (D993Y) linked to APLAID syndrome, a condition characterized by autoinflammation and immune dysregulation.
- - Using various advanced techniques, the researchers found that the D993Y mutation leads to heightened inflammatory responses and disruption of normal protein function in immune cells.
- - The findings highlight how this mutation activates several inflammatory pathways, contributing to the symptoms of APLAID syndrome and expanding the understanding of PLCγ2-related conditions.
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