A5048419206- Soft tissue tumor case studies
- Metabolism and Genetic Disorders
- Influenza Virus Research Studies
- Sarcoma Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- Infectious Encephalopathies and Encephalitis
- Cardiovascular Effects of Exercise
- Mitochondrial Function and Pathology
- Neurofibromatosis and Schwannoma Cases
- Cardiovascular Function and Risk Factors
- Bacterial Infections and Vaccines
- Nuclear Structure and Function
Meyer Children's Hospital
2023
University of Florence
2023
Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death. Different cardiac phenotypes have been described, among which dilated cardiomyopathy (DCM) predominant. Despite recent progress diagnosis treatment, the natural history OAs remains unresolved, specifically regard impact complications. We therefore performed retrospective study address this issue at our Referral Center for...
Hutchinson-Gilford progeria syndrome is an extremely rare genetic disease caused by a de novo mutation in the LMNA gene, leading to accumulation of form Lamin A, called Progerin, which results typical phenotype and marked decrease life expectancy, due early atherosclerosis cardiovascular disease. We report case fourteen-year-old Chinese boy with admitted emergency room because precordial pain. Physical examination showed tachycardia 130 beats/min arterial hypertension: 170/120 mmHg, normal...
Isolated musculoskeletal infantile myofibroma is a rare tumor of pediatric age. The majority cases are seen in children under two years old, but it can occur at any age as painless enlarging mass that involves bone, skin, or soft tissue, typically accompanied by compression symptoms. Perineural involvement extremely myofibromas. Neurological impairment during infancy isolated nerve palsy, particularly peripheral nerves within the upper extremity, very uncommon. Neonatal radial palsy entity...