Search Results - "Praticó, Andrea"

COVID-19 pandemic for Pediatric Health Care: disadvantages and opportunities by Praticò, Andrea D.

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COVID-19 vaccination for children: may be necessary for the full eradication of the disease by Praticò, Andrea D., Ruggieri, Martino

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Ketogenic diet for infants with epilepsy: A literature review by Falsaperla, Raffaele, D'Angelo, Gabriella, Praticò, Andrea D., Mauceri, Laura, Barbagallo, Massimo, Pavone, Piero, Catanzaro, Stefano, Gitto, Eloisa, Corsello, Giovanni, Ruggieri, Martino

“…The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be…”
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Introduction to phacomatoses (neurocutaneous disorders) in childhood by Ruggieri, Martino, Polizzi, Agata, Marceca, Gioacchino Paolo, Catanzaro, Stefano, Praticò, Andrea D., Di Rocco, Concezio

“…The Dutch ophthalmologist, Jan van der Hoeve , first introduced the terms phakoma / phakomata (from the old Greek word “ϕαχοσ” = lentil, spot, lens-shaped) to…”
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Mosaic Neurocutaneous Disorders and Their Causes by Ruggieri, Martino, BA, MD, PhD, Praticò, Andrea D., MD

“…Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours]…”
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Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes by Ruggieri, Martino, Praticò, Andrea D., Caltabiano, Rosario, Polizzi, Agata

“…The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic…”
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Rediagnosing one of Smith’s patients (John McCann) with “neuromas tumours” (1849) by Ruggieri, Martino, Praticò, Andrea D., Caltabiano, Rosario, Polizzi, Agata

“…In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his “Treatise on the Pathology, Diagnosis and Treatment of Neuroma”, collected…”
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Ataxia in children: early recognition and clinical evaluation by Pavone, Piero, Praticò, Andrea D, Pavone, Vito, Lubrano, Riccardo, Falsaperla, Raffaele, Rizzo, Renata, Ruggieri, Martino

“…Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly…”
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Neurocutaneous melanocytosis (melanosis) by Ruggieri, Martino, Polizzi, Agata, Catanzaro, Stefano, Bianco, Manuela Lo, Praticò, Andrea D., Di Rocco, Concezio

“…Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as…”
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment by Pavone, Piero, Praticò, Andrea Domenico, Rizzo, Renata, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Falsaperla, Raffaele

“…Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic…”
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A Probable Topiramate-Induced Limbs Paraesthesia and Rigid Fingers Flexion by Pratico, Andrea Domenico, Ruggieri, Martino, Falsaperla, Raffaele, Pavone, Piero

“…Topiramate is a well-known anticonvulsant drug with a broad spectrum of actions. It has been proposed in the treatment of several types of epileptic seizures…”
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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13 by Pavone, Piero, Briuglia, Silvana, Falsaperla, Raffaele, Warm, Amiel, Pavone, Vito, Bernardini, Laura, Novelli, Antonio, Praticò, Andrea D., Salpietro, Vincenzo, Ruggieri, Martino

“…A 2 ½‐year‐old girl with multiple congenital anomalies and a de novo 5.6‐Mb deletion on chromosome 13q12.11–13q12.13 is reported. She showed choanal atresia,…”
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The multiple faces of artwork diagnoses by Ruggieri, Martino, Praticò, Andrea D, Scuderi, Antonino, Sorge, Giovanni, Polizzi, Agata

“…[...]she possibly had Kniest dysplasia or another metatropic dwarfism…”
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Symptomatic hypocalcemia in an epileptic child treated with valproic acid plus lamotrigine: a case report by Praticó, Andrea, Pavone, Piero, Scuderi, Maria, Volti, Giovanni, Bernardini, Renato, Cantarella, Giuseppina, Pavone, Lorenzo

“…Introduction An epileptic child had been long treated with valproic acid and lamotrigine. After a few years of treatment, he manifested severe clinical signs…”
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Congenital muscular dystrophy: from muscle to brain by Falsaperla, Raffaele, Praticò, Andrea D, Ruggieri, Martino, Parano, Enrico, Rizzo, Renata, Corsello, Giovanni, Vitaliti, Giovanna, Pavone, Piero

“…Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to…”
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Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1 -hamartin" phenotype characterized by reduced cell growth by Praticò, Andrea D, Falsaperla, Raffaele, Comella, Mattia, Belfiore, Giuseppe, Polizzi, Agata, Ruggieri, Martino

“…Mutations of and genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias,…”
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Did Cro-Magnon 1 have neurofibromatosis type 2? by Ruggieri, Martino, Praticò, Andrea D, Catanzaro, Stefano, Palmucci, Stefano, Polizzi, Agata

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Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review by Falsaperla, Raffaele, Sciuto, Laura, La Spina, Luisa, Sciuto, Sarah, Praticò, Andrea D., Ruggieri, Martino

“…Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt…”
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Immunotherapy for food allergies: a myth or a reality? by Praticò, Andrea D, Leonardi, Salvatore

“…Food allergy is a worldwide issue, with an estimated prevalence of 2-10%. An effective treatment is not available for people affected and the only management…”
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Hydranencephaly: cerebral spinal fluid instead of cerebral mantles by Pavone, Piero, Praticò, Andrea D, Vitaliti, Giovanna, Ruggieri, Martino, Rizzo, Renata, Parano, Enrico, Pavone, Lorenzo, Pero, Giuseppe, Falsaperla, Raffaele

“…The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition,…”
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