Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.
View Article and Find Full Text PDFBackground And Objectives: Given the stigma of dementia, individuals with the condition may be wary to disclose their diagnosis to other people, both in face-to-face and digital settings. While sharing one's dementia diagnosis with others is essential for accessing valuable support for social, cognitive, and physical well-being, this area of research has largely been neglected. In this meta-synthesis, we aimed to systematically review qualitative research on the factors associated with online and offline self-disclosure in people with dementia.
View Article and Find Full Text PDFAnn Otol Rhinol Laryngol
December 2024
Objective: The reach and impact of social media as it pertains to medical information among the parents and guardians of pediatric otolaryngology patients is unknown. This survey-based study investigates the use of social media as a source of medical knowledge in this population.
Methods: Parents and guardians visiting a pediatric Otolaryngology clinic located at a tertiary care children's hospital in southern California from September 2022 to May 2023 were approached for study inclusion.
Progressive familial intrahepatic cholestasis (PFIC) is a rare autosomal recessive disorder marked by severe, early-onset cholestasis due to genetic mutations in hepatobiliary transporters, leading to toxic bile acid accumulation and liver damage. PFIC is categorized into three types based on mutations in , , and genes. This case involves a five-year-old female with symptoms such as easy fatigability, coarse facial features, respiratory distress, pruritus, abdominal distension, dark-colored urine, pale stool, and generalized edema.
View Article and Find Full Text PDFNanotechnology in stem cell medicine is an interdisciplinary field which has gained a lot of interest recently. This domain addresses key challenges associated with stem cell medicine such as cell isolation, targeted delivery, and tracking. Nanotechnology-based approaches, including magnetic cell sorting, fluorescent tagging, and drug or biomolecule conjugation for delivery, have enhanced precision in stem cell isolation and guided cell migration, increasing the therapeutic potential.
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