22 results on '"Falsaperla, Raffaele"'
Search Results
2. SLC25A22 and Its Related Epileptic Encephalopathies.
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Patanè, Francesca, Pasquetti, Elisa, Sullo, Federica, Tosto, Monica, Sciuto, Laura, Garozzo, Maria Teresa, Praticò, Elena R., and Falsaperla, Raffaele
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EPILEPSY risk factors ,BRAIN ,GENETIC mutation ,BRAIN diseases ,INFANTILE spasms ,EPILEPSY ,RISK assessment ,SEIZURES (Medicine) ,INBORN errors of metabolism ,PHENOTYPES ,DISEASE risk factors ,DISEASE complications ,CHILDREN - Abstract
Epileptic encephalopathy is a condition in which seizures, electroencephalographic epileptiform abnormalities lead to a progressive deterioration of brain functions causing a significant psychomotor delay. One of the typical features of this heterogeneous and large group of severe disorders is the extremely early onset of seizures. The main causes of the epileptic encephalopathies include structural brain defects, inherited metabolic disorders; in this aspect, more than 100 genetic defects, including mutations in the solute carrier family 25 (SLC25A22) gene which encodes a mitochondrial glutamate carrier. To date, the main clinical phenotypes related to mutations of this gene are Ohtahara syndrome (or early infantile epileptic encephalopathy), early myoclonic encephalopathy and migrating partial seizures in infancy. In all the cases, prognosis is poor and no disease-modifying treatment is available in the present days. [ABSTRACT FROM AUTHOR]
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- 2023
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3. Mild Hypoxic–Ischemic Encephalopathy: Can Neurophysiological Monitoring Predict Unfavorable Neurological Outcome? A Systematic Review and Meta-analysis.
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Falsaperla, Raffaele, Sciuto, Sarah, Gioè, Daniela, Sciuto, Laura, Pisani, Francesco, Pavone, Piero, and Ruggieri, Martino
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ONLINE information services , *BRAIN , *ELECTROENCEPHALOGRAPHY , *PREDICTIVE tests , *META-analysis , *SYSTEMATIC reviews , *SEVERITY of illness index , *RISK assessment , *CHILD psychopathology , *BRAIN injuries , *MEDLINE , *ODDS ratio , *DISEASE complications , *CHILDREN - Abstract
Objective Hypoxic–ischemic encephalopathy (HIE) is the second cause of neonatal deaths and one of the main conditions responsible for long-term neurological disability. Contrary to past belief, children with mild HIE can also experience long-term neurological sequelae. The aim of this systematic review is to determine the predictive value of long-term neurological outcome of (electroencephalogram) EEG/amplitude-integrated electroencephalogram (aEEG) in children who complained mild HIE. Study Design From a first search on PubMed, Google Scholar, and clinicalTrials.gov databases, only five articles were considered suitable for this study review. A statistical meta-analysis with the evaluation of odds ratio was performed on three of these studies. Results No correlation was found between the characteristics of the electrical activity of the brain obtained through EEG/aEEG in infants with mild HIE and subsequent neurological involvement. Conclusion EEG/aEEG monitoring in infants with mild HIE cannot be considered a useful tool in predicting their neurodevelopmental outcome, and its use for this purpose is reported as barely reliable. Key Points HIE is responsible for long-term neurological outcome, even in newborns with mild HIE. No correlation was found between EEG/aEEG trace in infants with mild HIE and neurological sequelae. Neurophysiological monitoring, in mild HIE, cannot predic neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Acquired methemoglobinemia in children presenting to Italian pediatric emergency departments: a multicenter report.
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Raucci, Umberto, Stanco, Michela, Roversi, Marco, Ponticiello, Eduardo, Pisani, Mara, Rosa, Margherita, Falsaperla, Raffaele, Pavone, Piero, Bondone, Claudia, Raffaldi, Irene, Calistri, Lucia, Masi, Stefano, Reale, Antonino, Villani, Alberto, and Marano, Marco
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PEDIATRIC emergency services ,METHEMOGLOBINEMIA ,METHYLENE blue ,FOOD contamination ,COOKING stocks - Abstract
Methemoglobinemia (MetHb) is a rare inherited or acquired cause of cyanosis in children. Owing to its rarity, case reports and case series are mostly available in the current literature. This study reports data on a large sample of children with acquired MetHb. Data on patients admitted for acquired MetHb between January 2007 to December 2020 was extracted from the databases of five Italian pediatric emergency departments (EDs). Demographical and clinical characteristics was reported and discussed. Nineteen cases of acquired MetHb were evaluated. Ten patients (52.6%) were male and 9 (47.4%) were female. The median age was 8.23 months. The median time from trigger to symptom onset was 6 hours. Mostly, the intoxication presumptively occurred by home ingestion of contaminated food, mainly badly preserved vegetable broth. All patients were cyanotic at admission, most patients also presented tachycardia and/or tachypnea, and two patients were comatose. Antidotal therapy with methylene blue was given in 14 patients (73.7%). The median hospital stay was 2 days. All patients survived. As MetHb leads to the pathognomonic brown blood discoloration, blood gas analysis is mandatory immediately upon hospital arrival of a cyanotic patient. A correct medical history is crucial to identify the trigger and remove it. In our sample, the age onset was much lower than in the previous literature, and MetHb mainly due to ingestion of contaminated vegetable broth. Methylene blue led to a rapid recovery in all patients. Oxygen therapy may well lead to complete recovery when methemoglobin levels do not exceed 30% in asymptomatic and 20% in mildly symptomatic patients. The diagnosis and management of acquired MetHb in the emergency setting requires acknowledgment of this condition as a cause of cyanosis in the weaning child. Indeed, when promptly recognized and treated, this severe condition rapidly resolves with no significant acute sequelae. [ABSTRACT FROM AUTHOR]
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- 2022
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5. NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review.
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Sciacca, Monica, Marino, Lidia, Vitaliti, Giovanna, Falsaperla, Raffaele, and Marino, Silvia
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COGNITION disorder risk factors ,GENETIC mutation ,SEQUENCE analysis ,CRANIOFACIAL abnormalities ,TWINS ,GENETIC testing ,GENES ,GENOTYPES ,CHILD psychopathology ,GENOMICS ,PHENOTYPES ,CHILDREN - Abstract
In the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt–Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using a comparative genomic hybridization array. The two children had a dual diagnosis consisting of mild cognitive impairment and neurodevelopmental delay. Furthermore, they showed a dysmorphic phenotype characterized by facio-cranial disproportion, turricephalus, macrocrania, macrosomia, strabismus, and abnormal conformation of both auricles with low implantation. The genetic analysis of the family members showed the presence, in the father's genetic test, of a microdeletion of the short arm of chromosome 2, in the 2p16.3 region. Our case report can expand the knowledge on the genotype–phenotype association in carriers of 2p16.3 deletion and for genetic counseling that could help in the prevention and eventual treatment of this genetic condition. Newborn carriers should undergo neurobehavioral follow-ups for timely detection of warning signs. [ABSTRACT FROM AUTHOR]
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- 2022
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6. Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
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Pavone, Piero, Pappalardo, Xena Giada, Mustafa, Naira, Cho, Sung Yoon, Jin, Dong Kyu, Incorpora, Gemma, Falsaperla, Raffaele, Marino, Simona Domenica, Corsello, Giovanni, Parano, Enrico, and Ruggieri, Martino
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COMORBIDITY ,GENETIC mutation ,EPILEPSY ,TWINS ,GENES ,HEMIPLEGIA ,DISEASE risk factors ,DISEASE complications ,SYMPTOMS ,CHILDREN - Abstract
Background: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. Conclusions: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity. [ABSTRACT FROM AUTHOR]
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- 2022
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7. The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review.
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Cacciaguerra, Giovanni, Palermo, Monica, Marino, Lidia, Salvatore Rapisarda, Filippo Andrea, Pavone, Piero, Falsaperla, Raffaele, Ruggieri, Martino, and Marino, Silvia
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CRANIOSYNOSTOSES ,SKULL abnormalities ,CHILDREN'S health ,NONINVASIVE diagnostic tests ,SUTURES - Abstract
Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies. Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. The clinician must know how to diagnose in the earliest and least invasive way for the child. In the past, technological limitations reduced the choices; today, however, there are plenty of choices and it is necessary to use the various types of available imaging correctly. In the future, imaging techniques will probably rewrite the common classifications we use today. We provide an updated review of the role of imaging in this condition, through the ages, to outline the correct choice for the clinician for an early and non-invasive diagnosis. [ABSTRACT FROM AUTHOR]
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- 2021
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8. Treating the symptom or treating the disease in neonatal seizures: a systematic review of the literature.
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Falsaperla, Raffaele, Scalia, Bruna, Giugno, Andrea, Pavone, Piero, Motta, Milena, Caccamo, Martina, and Ruggieri, Martino
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ONLINE information services , *ANTICONVULSANTS , *NEUROLOGICAL disorders , *SODIUM channel blockers , *TREATMENT effectiveness , *SEIZURES (Medicine) , *MEDLINE , *PHENOBARBITAL , *SYMPTOMS , *CHILDREN - Abstract
Aim: The existing treatment options for neonatal seizures have expanded over the last few decades, but no consensus has been reached regarding the optimal therapeutic protocols. We systematically reviewed the available literature examining neonatal seizure treatments to clarify which drugs are the most effective for the treatment of specific neurologic disorders in newborns. Method: We reviewed all available, published, literature, identified using PubMed (published between August 1949 and November 2020), that focused on the pharmacological treatment of electroencephalogram (EEG)-confirmed neonatal seizures. Results: Our search identified 427 articles, of which 67 were included in this review. Current knowledge allowed us to highlight the good clinical and electrographic responses of genetic early-onset epilepsies to sodium channel blockers and the overall good response to levetiracetam, whose administration has also been demonstrated to be safe in both full-term and preterm newborns. Interpretation: Our work contributes by confirming the limited availability of evidence that can be used to guide the use of anticonvulsants to treat newborns in clinical practice and examining the efficacy and potentially harmful side effects of currently available drugs when used to treat the developing newborn brain; therefore, our work might also serve as a clinical reference for future studies. [ABSTRACT FROM AUTHOR]
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- 2021
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9. Single and in combination antiepileptic drug therapy in children with epilepsy: how to use it.
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Oliva, Claudia Francesca, Gangi, Gloria, Marino, Silvia, Marino, Lidia, Messina, Giulia, Sciuto, Sarah, Cacciaguerra, Giovanni, Comella, Mattia, Falsaperla, Raffaele, and Pavone, Piero
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COMBINATION drug therapy ,EPILEPSY ,CHILDHOOD epilepsy ,CHILDREN with epilepsy ,ANTICONVULSANTS ,DRUG dosage - Abstract
Treatment of childhood seizures is a pressing challenge within neuropediatrics because of its severe impact to the children and families affected by these debilitating disorders. It is of upmost importance to make an early diagnosis, to start a promptly treatment, to use therapy and dosage of the drug appropriately, based on the specific epileptic type and epileptic syndrome. Single therapy with appropriate dosage is the main approach to treatment. When the drug is the cause of an idiosyncratic reaction it is advisable to replace the suboptimal seizure response with another antiepileptic drug, combined therapy with two antiepileptic drugs is also a viable option. In childhood, polytherapy using more than two antiepileptic drugs remains controversial because the harm of interaction with deleterious drugs could potentially replace the damage caused by the seizures themselves. The use of three or more antiepileptic drugs should be limited to epileptic seizures that are particularly resistant to drugs and when non-drug antiepileptic therapies have failed. An approach to the difficult topic of epileptic treatment in childhood is reported. Key point: mono vs polytherapy in epileptic children; single and alternative therapy in epileptic children; use or three or more AEDs in children. [ABSTRACT FROM AUTHOR]
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- 2021
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10. Ventilation, oxidative stress and risk of brain injury in preterm newborn.
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Cannavò, Laura, Rulli, Immacolata, Falsaperla, Raffaele, Corsello, Giovanni, and Gitto, Eloisa
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ARTIFICIAL respiration ,BRAIN injuries ,LUNG injuries ,RESPIRATORY measurements ,RISK assessment ,MECHANICAL ventilators ,OXIDATIVE stress ,HOSPITAL birthing centers ,POSITIVE end-expiratory pressure ,DISEASE complications ,DISEASE risk factors ,CHILDREN - Abstract
Preterm infants have an increased risk of cognitive and behavioral deficits and cerebral palsy compared to term born babies. Especially before 32 weeks of gestation, infants may require respiratory support, but at the same time, ventilation is known to induce oxidative stress, increasing the risk of brain injury. Ventilation may cause brain damage through two pathways: localized cerebral inflammatory response and hemodynamic instability. During ventilation, the most important causes of pro-inflammatory cytokine release are oxygen toxicity, barotrauma and volutrauma. The purpose of this review was to analyze the mechanism of ventilation-induced lung injury (VILI) and the relationship between brain injury and VILI in order to provide the safest possible respiratory support to a premature baby. As gentle ventilation from the delivery room is needed to reduce VILI, it is recommended to start ventilation with 21–30% oxygen, prefer a non-invasive respiratory approach and, if mechanical ventilation is required, prefer low Positive End-Expiratory Pressure and tidal volume. [ABSTRACT FROM AUTHOR]
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- 2020
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11. High mobility group box 1 and markers of oxidative stress in human cord blood.
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D'Angelo, Gabriella, Granese, Roberta, Marseglia, Lucia, Impellizzeri, Pietro, Alibrandi, Angela, Palmara, Antonella, La Rosa, Maria Angela, Manti, Sara, Salpietro, Carmelo, Spina, Edoardo, Reiter, Russel J, Falsaperla, Raffaele, Corsello, Giovanni, and Gitto, Eloisa
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ACADEMIC medical centers ,BIOMARKERS ,BLOOD collection ,CESAREAN section ,COMPARATIVE studies ,DELIVERY (Obstetrics) ,CORD blood ,LABOR (Obstetrics) ,INDUCED labor (Obstetrics) ,VAGINA ,OXIDATIVE stress ,UMBILICAL veins ,DESCRIPTIVE statistics ,CATHELICIDINS ,BLOOD ,CHILDREN - Abstract
Background: Parturition induces considerable oxidative stress and many inflammatory mediators, such as high mobility group box 1 (HMGB1), are involved from the beginning of the pregnancy to birth. The aim of the present study was to evaluate serum cord blood concentration of diacron‐reactive oxygen metabolites (d‐ROM), biological antioxidant potential (BAP), and HMGB1 to investigate the perinatal oxidative status of neonates and correlation with mode of delivery, as well as the influence of labor. Methods: The subjects consisted of 214 neonates delivered at University Hospital "G. Martino", Messina, in a 6 months period. Venous blood samples were collected from the umbilical cord after cord separation. Results: Umbilical cord venous blood HMGB1 was significantly higher in the spontaneous vaginal delivery (SVD) group than in the elective or emergency cesarean section (CS) group (P = 0.018). Regarding labor, there was no significant difference in HMGB1 concentration in umbilical vein blood between the spontaneous and induced labor groups (P = 0.250). Furthermore, d‐ROM was significantly different between the SVD group and the elective or emergency CS group (P = 0.044). BAP concentration, however, was not significantly different, not even with regard to mode of labor. Conclusion: Oxidation is higher in newborns delivered by SVD than in those delivered by CS, and HMGB1 may be involved in the mechanisms of birth, and responsible for decidual modifications that lead to birth. [ABSTRACT FROM AUTHOR]
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- 2019
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12. Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome.
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Falsaperla, Raffaele, Marino, Simona Domenica, Marino, Silvia, and Pavone, Piero
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BRAIN abnormalities ,DRUG therapy for convulsions ,MIDAZOLAM ,ACADEMIC medical centers ,SEIZURES (Medicine) ,ELECTROENCEPHALOGRAPHY ,EPILEPSY ,PEOPLE with intellectual disabilities ,SPASMS ,INFANTILE spasms ,LISSENCEPHALY ,MICROARRAY technology ,DISEASE complications ,SYMPTOMS ,CHILDREN ,DIAGNOSIS ,THERAPEUTICS - Abstract
Aim of the study: To evaluate the electroclinical course and the correlation Electroencephalographic (EEG) pattern and epileptic seizures in an infant with Miller Dieker Syndrome (MDS) during the first year of life. Materials and Methods: MDS was diagnosed in the infant soon after birth and followed up from six months of life to one year, at the Department of Pediatrics, General Pediatric Operative Unit, Policlinico Vittorio Emanuele, University Hospital, XCatania, Italy, with clinical and serial EEG recording. Results: Aside from severe delay in the developmental milestone, the onset of the seizures was first noticed by the parents at the age of 4 months as brief slow tonic movements; at 6 months as tonic movements of the upper limbs with a slow rotations of the trunk, i.e. "subtle spams"; and at 7 months as typical infantile spams and tonic seizures. The EEG recording registered pattern of modified hypsarrhythmia (MH) correlated with "subtle spams" at the age of 6 months and at the age of 7 months the same EEG recording of MH associated to clinical expression of classical Infantile Spams (IS). Conclusions: In this infant, the EEG pattern and epileptic seizures were widely variable ranging clinically from brief anomalous movements to "subtle spams" and to typical infantile spams. At the same time, the EEG recording manifested first with MH and one month later with classical hypsarrhythmia. The EEG recording MH correlated first with clinical expression of subtle spams and the EEG remaining unchanged with the classical clinical expression of infantile spams. [ABSTRACT FROM AUTHOR]
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- 2018
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13. Evolution of blood pressure in children with congenital and acquired solitary functioning kidney.
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Lubrano, Riccardo, Gentile, Isotta, Falsaperla, Raffaele, Vitaliti, Giovanna, Marcellino, Alessia, and Elli, Marco
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HYPERTENSION risk factors ,PREHYPERTENSION ,AGE distribution ,BLOOD pressure measurement ,GLOMERULAR filtration rate ,KIDNEY function tests ,PROBABILITY theory ,PROTEINURIA ,SEX distribution ,CHILDREN - Abstract
Background: It is not yet clear if blood pressure and renal function changes evolve differently in children with a congenital or acquired solitary functioning kidney. This study aims to assess if there are any differences between these two types of solitary kidney patients. Methods: Current research is a retrospective study assessing the evolution of glomerular filtration rate, proteinuria, and blood pressure in clinical records of 55 children with a solitary functioning kidney (37 congenital and 18 acquired). We used the medical records of children who had been assisted, in our unit of pediatric nephrology, for a period of 14 years (168 months), from the time of diagnosis, between January/1997 and December/2015. Results: During the study period, glomerular filtration rate (T0 128.89±32.24 vsT14 118.51 ±34.45 ml/min/1. 73 m², p NS) and proteinuria (T0 85.14 ± 83.13 vs T14 159.03 ± 234.66 mg/m²/die, p NS) demonstrated no significant change. However, after 14 years of follow-up 76.4% of patients had increased levels of arterial hypertension with values over the 90th percentile for gender, age, and height. Specifically, children with an acquired solitary functioning kidney mainly developed hypertension [TO 2/17 (12%) vs T14 9/17 (52.9%) p < 0.025], whereas children with a congenital solitary functioning kidney mainly developed pre-hypertension [T0 3/38 (7.9%) vs T14 17/38 (44.7%) p < 0.0005]. Conclusions: The renal function of children with solitary functioning kidneys remains stable during a follow-up of 14 years. However, these children should be carefully monitored for their tendency to develop arterial blood pressure greater than the 90th percentile for gender, age, and height. [ABSTRACT FROM AUTHOR]
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- 2017
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14. Pediatric Autoimmune Encephalitis.
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Barbagallo, Massimo, Vitaliti, Giovanna, Pavone, Piero, Romano, Catia, Lubrano, Riccardo, and Falsaperla, Raffaele
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AUTOIMMUNE disease diagnosis ,AUTOIMMUNE disease treatment ,ENCEPHALITIS diagnosis ,TREATMENT of encephalitis ,MAGNETIC resonance imaging ,PEDIATRICS ,TREATMENT effectiveness ,CHILDREN - Abstract
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists. Neurological features are movement disorders, seizures, altered conscious level, and cognitive regression. Hypoventilation and autonomic features may be an aspect. Inflammatory findings in the cerebrospinal fluid may be present but are relatively nonspecific. Magnetic resonance imaging (MRI) may also demonstrate abnormalities that provide clues for diagnosis, particularly on fluid‑attenuated inversion recovery or T2‑weighted images. AE is well responsive to immune therapy, with prompt diagnosis and treatment strongly beneficial. Patients with paraneoplastic encephalitis are more refractory to treatment compared to those in whom no malignancy is identified. Herein, the authors present an update of literature data on the clinical presentation, laboratory and imaging findings, therapy, and outcomes for the most common autoimmune encephalitides. [ABSTRACT FROM AUTHOR]
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- 2017
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15. Levetiracetam in Neonatal Seizures as First-line Treatment: A Prospective Study.
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Falsaperla, Raffaele, Vitaliti, Giovanna, Mauceri, Laura, Romano, Catia, Pavone, Piero, Motamed-Gorji, Nazgol, Matin, Nassim, Lubrano, Riccardo, and Corsello, Giovanni
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DRUG therapy for convulsions ,ANTICONVULSANTS ,INTRAVENOUS therapy ,LONGITUDINAL method ,NEONATAL intensive care ,SPASMS ,NEONATAL intensive care units ,TREATMENT effectiveness ,TREATMENT duration ,CHILDREN - Abstract
Aim of the Study: The aim of this study is to evaluate the efficacy and safety of levetiracetam (LEV) as first‑line treatment of neonatal seizures. Materials and Methods: This study was conducted in patients of Neonatal Intensive Care Unit of Santo Bambino Hospital, University of Catania, Italy, from January to August 2016. A total of 16 neonates with convulsions not associated with major syndromes, which required anticonvulsant therapy, were included and underwent IV LEV at standard doses. Results: All patients responded to treatment, with a variety range of seizure resolution period (from 24 h to 15 days; mean hours: 96 ± 110.95). No patient required a second anticonvulsant therapy. Regarding safety of LEV, no major side‑effects were observed. Conclusions: To our knowledge, it is one of the few studies confirming the efficiency of LEV as first‑line treatment in seizures of this age group. LEV was effective in resolving seizures and was safely administered in the current study. [ABSTRACT FROM AUTHOR]
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- 2017
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16. Acetaminophen administration in pediatric age: an observational prospective crosssectional study.
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Lubrano, Riccardo, Paoli, Sara, Bonci, Marco, Di Ruzza, Luigi, Cecchetti, Corrado, Falsaperla, Raffaele, Pavone, Piero, Matin, Nassim, Vitaliti, Giovanna, and Gentile, Isotta
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ACETAMINOPHEN ,FEVER ,OUTPATIENT services in hospitals ,LONGITUDINAL method ,PARENTS ,SELF medication ,EDUCATIONAL attainment ,CROSS-sectional method ,CHILDREN - Abstract
Background: Parents often do not consider fever as an important physiological response and mechanism of defense against infections that leads to inappropriate use of antipyretics and potentially dangerous side effects. This study is designed to evaluate the appropriateness of antipyretics dosages generally administered to children with fever, and to identify factors that may influence dosage accuracy. Results: In this cross-sectional study we analyzed the clinical records of 1397 children aged >1 month and < 16 years, requiring a primary care (ambulatory) outpatient visit due to fever. We evaluated the number of children who had received >90 mg/kg/day of acetaminophen, the prescriber, the medication formula and the educational level of the caregiver who administered acetaminophen. Among those children included in our study, 74 % were administered acetaminophen for body temperature ≤ 38.4 °C. 24.12 % of children received >90 mg/kg/day of acetaminophen. Parents with university qualifications most commonly self-administered acetaminophen to their children, in a higher than standard dose. Self medication was also described in 60 % of children, whose acetaminophen was administered for temperatures < 38 °C. Acetaminophen over-dosage was also favored by the use of drug formulations as drops or syrup. Conclusions: Our study shows that preventive action should be taken regarding the use of acetaminophen as antipyretic drug in children in order to reduce the fever phobia and self-prescription, especially of caregivers with higher educational levels. It is also necessary to promote a more appropriate use of acetaminophen in those parents using drops or syrup formulations. [ABSTRACT FROM AUTHOR]
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- 2016
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17. Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series.
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Sartori, Stefano, Nosadini, Margherita, Cesaroni, Elisabetta, Falsaperla, Raffaele, Capovilla, Giuseppe, Beccaria, Francesca, Mancardi, Maria Margherita, Santangelo, Giuseppe, Giunta, Leandra, Boniver, Clementina, Cantalupo, Gaetano, Cappellari, Alberto, Costa, Paola, Dalla Bernardina, Bernardo, Dilena, Robertino, Natali Sora, Maria Grazia, Pelizza, Maria Federica, Pruna, Dario, Serino, Domenico, and Vanadia, Francesca
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Background Given the rarity of this condition, especially in children, there is a paucity of large reported paediatric case series of anti-N-methyl-d-aspartate receptor encephalitis. Methods To contribute to define the features of this condition, we describe retrospectively a new nationwide case series of 20 children (50% females), referred by 13 Italian centres. Results Mean age at onset was 8 years (range 3–17). Prodromal symptoms were reported in 31.6%; onset was with neurological symptoms in 70%, and with behavioural/psychiatric disturbances in 30%. Most patients developed a severe clinical picture (90%), and 41% experienced medical complications; children 12–18 years old seemed to be more severe and symptomatic than younger patients. All children received first-line immune therapy; second-line treatment was administered to 45%. Relapses occurred in 15%. At last follow-up (mean 23.9 months, range 5–82), 85% patients had mRS 0–1; this rate was higher among older patients, and in those receiving first immune therapy within 1 month. Conclusions Our case series confirms a symptomatologic core of paediatric anti-N-methyl-d-aspartate receptor encephalitis, even though displaying some distinctive features that may be explained by a specific genetic background or by the limited number of patients. The growing incidence of this condition, the relative age-dependent variability of its manifestations, the availability of immunotherapy and the possible better outcome with early treatment impose a high index of clinical suspicion be maintained. In the absence of data suggesting other specific etiologies, paediatricians should consider this diagnosis for children presenting with neurological and/or behavioural or psychiatric disturbances, regardless of age and gender. [ABSTRACT FROM AUTHOR]
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- 2015
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18. Noninvasive ventilation for acute respiratory distress in children with central nervous system disorders.
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Falsaperla, Raffaele, Elli, Marco, Pavone, Piero, Isotta, Gentile, and Lubrano, Riccardo
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Background: Acute respiratory distress (ARD) is a relatively frequent occurrence in patients suffering from central nervous system disorders (CNSD) and moderate to severe mental retardation. Whenever conventional therapy is little effective, noninvasive mechanical ventilation (NIV) is the additional treatment in patients with diseases of the peripheral nervous system. However, NIV is traditionally little employed in the acute phase in patients suffering from CNSD. In the latter, either conventional therapy is maintained or invasive mechanical ventilation is instituted if the patient's condition worsens severely. To challenge the traditional view, we conducted the study to prove that NIV is both applicable and effective in the treatment of ARD also in children with moderate to severe mental retardation. Methods: We studied 44 children with ARD secondary to pneumonia and CNSD causing moderate to severe mental retardation. The children were divided in two groups. One group received conventional therapy and NIV, the other conventional therapy only, before being advanced to invasive ventilator support when nonresponding. On admission to hospital and one hour following admission we registered pH, PaCO
2 , PaO2, A - a DO2 and the PaO/FiO2 ratio. The mean hospital stay was also recorded. Results: After one hour on NIV PaO2 and pH increased, PaCO2 decreased, A e a DO2 and PaO2/ FiO2 ratio improved. No changes in the above parameters were observed in children on conventional therapy only. Hospital stay was shorter when NIV was instituted. Conclusions: NIV is both applicable and beneficial in stabilizing blood gases, respiratory and cardiovascular parameters also in children with CNSD. Moreover its use shortens the hospital stay. [ABSTRACT FROM AUTHOR]- Published
- 2013
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19. Correspondence to levetiracetam in neonatal seizures as first-line treatment.
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Falsaperla, Raffaele and Vitaliti, Giovanna
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ANTICONVULSANTS ,DRUG therapy for convulsions ,SEIZURES diagnosis ,ELECTROENCEPHALOGRAPHY ,MAGNETIC resonance imaging ,NEONATOLOGISTS ,SPASMS ,TREATMENT effectiveness ,CHILDREN ,PHENOBARBITAL ,DIAGNOSIS ,THERAPEUTICS - Published
- 2018
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20. Cardiorespiratory fitness: a comparison between children with renal transplantation and children with congenital solitary functioning kidney.
- Author
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Lubrano, Riccardo, Tancredi, Giancarlo, Falsaperla, Raffaele, and Elli, Marco
- Subjects
CHRONIC kidney failure complications ,COMPARATIVE studies ,KIDNEY transplantation ,OXYGEN consumption ,PHYSICAL activity ,CHILDREN - Abstract
Children with end-stage renal disease are known to have a cardiorespiratory fitness significantly reduced. This is considered to be an independent index predictive of mortality mainly due to cardiovascular accidents. The effects of renal transplantation on cardiorespiratory fitness are incompletely known. We compared the maximal oxygen uptake (VO2 max) of children with a functioning renal transplant with that of children with congenital solitary functioning kidney, taking into consideration also the amount of weekly sport activity. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
21. Symptomatic seizures in preterm newborns: a review on clinical features and prognosis.
- Author
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Spagnoli, Carlotta, Falsaperla, Raffaele, Deolmi, Michela, Corsello, Giovanni, and Pisani, Francesco
- Subjects
- *
SPASM treatment , *ANTICONVULSANTS , *CEREBRAL hemorrhage , *CEREBRAL palsy , *DEVELOPMENTAL disabilities , *ELECTROENCEPHALOGRAPHY , *SEIZURES (Medicine) , *EPILEPSY , *HEARING disorders , *PREMATURE infants , *MAGNETIC resonance imaging , *SKULL , *SPASMS , *VISION disorders , *CEREBRAL anoxia-ischemia , *DISEASE complications , *SYMPTOMS , *CHILDREN , *PROGNOSIS , *THERAPEUTICS ,CENTRAL nervous system infections - Abstract
Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements. Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial cranial ultrasound and brain magnetic resonance at term-equivalent age. Unfavourable outcomes following seizures in preterm infants include death, neurodevelopmental impairment, epilepsy, cerebral palsy, hearing and visual impairment. As experimental evidence suggests a detrimental role of seizures per se in determining subsequent outcome, they should be promptly treated with the aim to reduce seizure burden and long-term disabilities. However, neonatal seizures show low response to conventional anticonvulsant drugs, and this is even more evident in preterm newborns, due to intrinsic developmental factors. As a consequence, as literature does not provide any specific guidelines, due to the lack of robust evidence, off-label medications are often administered in clinical practice. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
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22. Benign and severe early-life seizures: a round in the first year of life.
- Author
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Pavone, Piero, Corsello, Giovanni, Ruggieri, Martino, Marino, Silvia, Marino, Simona, and Falsaperla, Raffaele
- Subjects
SEIZURES diagnosis ,GENETICS of epilepsy ,SPASM treatment ,BRAIN diseases ,AGE factors in disease ,CHILD development deviations ,DRUG resistance ,EPILEPSY ,SEIZURES (Medicine) ,FEBRILE seizures ,INFANT development ,PEOPLE with intellectual disabilities ,INFANTILE spasms ,SEVERITY of illness index ,SPASMS ,OPSOCLONUS-Myoclonus syndrome ,SYMPTOMS ,CHILDREN ,PROGNOSIS ,DIAGNOSIS ,THERAPEUTICS - Abstract
Background: At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug resistant seizures, delayed developmental skills, and intellective disability. This group of disorders includes early infantile epileptic encephalopathy also known as Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms syndrome (also known as West syndrome), severe myoclonic epilepsy in infancy (also known as Dravet syndrome) and, myoclonic encephalopathies in non-progressive disorder. Here we report on seizures manifesting in the first year of life including the neonatal period. Conditions with a benign course, and those with severe evolution are presented. At this early age, clinical identification of seizures, distinction of each of these disorders, type of treatment and prognosis is particularly challenging. The aim of this report is to present the clinical manifestations of each of these disorders and provide an updated review of the conditions associated with seizures in the first year of life. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
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