Publications by authors named "Lucia Giovanna Tardino"
Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.
View Article and Find Full Text PDFBackground: The main objective of this study was to evaluate the neurological consequences of delayed pyridoxine administration in patients diagnosed with Pyridoxin Dependent Epilepsies (PDE).
Materials And Methods: We reviewed 29 articles, comprising 52 genetically diagnosed PDE cases, ensuring data homogeneity. Three additional cases were included from the General Pediatric Operative Unit of San Marco Hospital.
Article Synopsis
- The study investigates the link between the electro-clinical patterns of epileptic spasms in infants and their underlying causes, categorizing cases into structural, genetic, infectious, metabolic, immune, and unknown etiology.
- The research analyzed data from 104 patients aged 1 to 22 months, using video-EEG methods to observe differences in seizure types and their respective causes.
- Results indicate specific patterns, like flexor spasms correlating with genetic causes and mixed spasms with structural causes, with distinct EEG features aiding in the classification of these conditions.
Article Synopsis
- Palliative care helps kids with serious illnesses feel better and supports their families from when they're diagnosed until they pass away.
- This study looked at how palliative care is used for newborns with neurological diseases in a hospital in Italy and wants to improve the care they receive.
- The results showed that Italy doesn't have enough palliative care services for these patients, and it's important to create special units to help them better.
Background: KCNQ2 encephalopathy is characterized by neonatal-onset epilepsy and developmental impairment, due to "de novo" KCNQ2 pathogenic variants. According to literature data, sodium channel blocking agents appear to be the best treatment options for the disease. Reports describing the use of ketogenic diet (KD) in the KCNQ2 pediatric population are limited.
View Article and Find Full Text PDFOmalizumab is a recombinant humanized IgG monoclonal antibody, which binds the Fc region of free IgE prevent its binding to its high-affinity receptor (FcεR1) on mast cells and basophils. Omalizumab was approved as add-on therapy for moderate-to-severe persistent allergic asthma and for patients with chronic spontaneous urticaria resistant to antihistamine treatment. This article reports effective and safe treatment of a 12 years old girl with add-on omalizumab.
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