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Disseminated nontuberculous mycobacterial infection in the context of interferon-gamma autoantibody syndrome: A case report and review of the literature.
Eur J Microbiol Immunol (Bp)
January 2025
1Department of Infectious Diseases, John Hunter Hospital, New Lambton Heights, NSW 2305, Australia.
Interferon-gamma (IFN-γ) autoantibody syndrome is an emerging clinical entity that has been associated with disseminated non-tuberculous mycobacterial infection (dNTM) particularly in healthy young people, a population not previously thought to be at particular risk. A 29-year-old South-East Asian man presented with several weeks of fever, cough, lymphadenopathy, and constitutional symptoms while working on an international cargo ship, deteriorating rapidly with a sepsis-like syndrome. Eventually lymph node and sputum cultures revealed a diagnosis of dNTM infection with growth of both Mycobacterium persicum and Mycobacterium abscessus.
View Article and Find Full Text PDFClinical and Electromyographic Characteristics of Pediatric Laryngeal Dyskinesia.
Otolaryngol Head Neck Surg
January 2025
Divisions of Pediatric Surgery and Otolaryngology-Head and Neck Surgery, The Stollery Children's Hospital and University of Alberta Hospital, Edmonton, Alberta, Canada.
Objective: To report the clinical and laryngeal electromyographic (LEMG) parameters of children with laryngeal dyskinesia (LD) and its prevalence among laryngeal mobility disorder (LMD) requiring full airway examination.
Study Design: Retrospective uncontrolled study.
Setting: Tertiary pediatric center.
Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.
Healthcare (Basel)
December 2024
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 455 00 Ioannina, Greece.
This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches.
View Article and Find Full Text PDFRenal Clear Cell Carcinoma Masquerading As Brain Arteriovenous Malformation: A Case Report and Review of the Literature.
Cureus
December 2024
Neurosurgery, Southmead Hospital, North Bristol NHS, Bristol, GBR.
Cerebral arteriovenous malformations (AVMs) are tangles of abnormal vessels with early arteriovenous (AV) shunting that can lead to intracerebral hemorrhage, seizures, neurologic deficit, or headache. To date, only a few cases of carcinomas metastasizing to pre-existing cerebral AVMs have been reported in the literature. However, renal clear cell carcinoma (RCC) brain metastases that exhibit early AV shunting, where AVM pathology is not present, are extremely rare.
View Article and Find Full Text PDFA Rare Case of Congenital Buccal Lipoblastoma in a Term Neonate.
Cureus
December 2024
Pediatrics/Neonatology, University of Arkansas for Medical Sciences, Little Rock, USA.
A lipoblastoma is a benign tumor of adipocytes originating from embryonic white fat and occurs in the pediatric population. Congenital lipoblastomas, however, are rare, and the incidence of these tumors in neonates is unknown. Due to their rare presentation, congenital oral lipoblastomas can, firstly, pose diagnostic challenges for the pediatrician and must be differentiated from the more commonly seen oral lesions in the newborn and other rare malignant growths.
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