Publications by authors named "M Consentino"
: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims to describe the genetic and phenotypic spectrum of PKU and mild hyperphenylalaninemia (m-HPA) in patients diagnosed at the Department of Inborn Errors of Metabolism and Newborn Screening, Hospital G.
View Article and Find Full Text PDFUrea/Creatinine Ratio's Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive Value.
Infect Dis Rep
December 2023
Article Synopsis
- COVID-19 is primarily known for causing respiratory issues, but recent studies have shown it can also lead to severe muscle inflammation (myositis) that could result in multi-organ failure and increased mortality.
- Myositis in pediatric patients with COVID-19 was studied at Policlinico San Marco University Hospital, revealing symptoms like fever, calf muscle pain, and elevated serum creatine kinase (CK) levels in affected children.
- Despite the potential severity, the majority of pediatric cases seemed to resolve without complications, highlighting the importance of monitoring specific markers for effective management and indicating the need for further research on the disease’s impact on muscles.
Article Synopsis
- Netherton syndrome is a rare genetic skin disorder marked by three main features: congenital ichthyosis (dry skin), immune system issues, and problems with the scalp.
- A case study details a 1-month-old boy who experienced severe health challenges, including failure to thrive and feeding problems, as well as an abnormal high sodium level at birth.
- The condition is caused by a mutation in the SPINK5 gene, leading to a protein deficiency that weakens the skin barrier, resulting in serious complications like skin infections and growth issues in infants.
Background: Among autonomic seizures apnea still represent a challenge for physicians, and it might constitute the only isolated sign of neurological disorder. The aim of this review is to describe ictal apnea (IA) and its treatment options.
Methods: MeSH and keywords were combined: "neonatal seizures", "ictal neonatal apnea", "apneic seizures".