Search Results - "CONTALDO, ILARIA"

Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? by Onesimo, Roberta, Proli, Francesco, Leoni, Chiara, Contaldo, Ilaria, Salerni, Annabella, Conti, Guido, Tartaglia, Marco, Zampino, Giuseppe

“…Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth…”
Get full text

Childhood Trauma and Self-harm in Youths with Bipolar Disorders by Janiri, Delfina, Di Luzio, Michelangelo, Montanari, Silvia, Hirsch, Daniele, Simonetti, Alessio, Moccia, Lorenzo, Conte, Eliana, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio, Sani, Gabriele

“…Background: Bipolar disorders (BD) in youth are associated with a high risk of self-harm behaviors. Childhood trauma (CT) is a relevant environmental stressor…”
Get full text

Wernicke Encephalopathy Caused by Avoidance-Restrictive Food Intake Disorder in a Child: A Case-Based Review by Turrini, Ida, Guidetti, Clotilde, Contaldo, Ilaria, Pulitanò, Silvia, Rigante, Donato, Veredice, Chiara

“…Wernicke encephalopathy (WE) is an acute and potentially fatal neuropsychiatric disorder resulting from thiamine deficiency: its etiology and clinical…”
Get full text

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset by De Rose, Domenico Umberto, Gallini, Francesca, Battaglia, Domenica Immacolata, Tiberi, Eloisa, Gaudino, Simona, Contaldo, Ilaria, Veredice, Chiara, Romeo, Domenico Marco, Massimi, Luca, Asaro, Alessia, Cereda, Cristina, Vento, Giovanni, Mercuri, Eugenio Maria

“…Background JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are…”
Get full text

Cortical Visual Impairment in CDKL5 Deficiency Disorder by Quintiliani, Michela, Ricci, Daniela, Petrianni, Maria, Leone, Simona, Orazi, Lorenzo, Amore, Filippo, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Perulli, Marco, Musto, Elisa, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata

“…CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual…”
Get full text

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples by Zollino, Marcella, Lattante, Serena, Orteschi, Daniela, Frangella, Silvia, Doronzio, Paolo N, Contaldo, Ilaria, Mercuri, Eugenio, Marangi, Giuseppe

“…Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of…”
Get full text

Cognitive-behavioral profiles in teenagers with Dravet syndrome by Olivieri, Giorgia, Battaglia, Domenica, Chieffo, Daniella, Rubbino, Roberta, Ranalli, Domiziana, Contaldo, Ilaria, Dravet, Charlotte, Mercuri, Eugenio, Guzzetta, Francesco

“…Abstract Aim To investigate behavior and cognitive performances of teenage patients with Dravet syndrome (DS). Methods We enrolled 20 teenage patients (12…”
Get full text

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome by Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella

“…MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in…”
Get full text

The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review by Sforza, Elisabetta, Limongelli, Domenico, Giorgio, Valentina, Margiotta, Gaia, Proli, Francesco, Kuczynska, Eliza Maria, Leoni, Chiara, Rigante, Donato, Contaldo, Ilaria, Veredice, Chiara, Rinninella, Emanuele, Gasbarrini, Antonio, Zampino, Giuseppe, Onesimo, Roberta

“…Severe gastrointestinal symptoms are one of the main reasons for switching from conventional artificial tube feeding to blenderized tube feeding (BTF). This…”
Get full text

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology by Musto, Elisa, Gambardella, Maria Luigia, Perulli, Marco, Quintiliani, Michela, Veredice, Chiara, Verdolotti, Tommaso, Berté, Giovanna, Leoni, Chiara, Onesimo, Roberta, Pulitanò, Silvia Maria, Tartaglia, Marco, Zampino, Giuseppe, Contaldo, Ilaria, Battaglia, Domenica Immacolata

“…Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the…”
Get full text

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report by Sprovieri, Teresa, Ungaro, Carmine, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, Luigi, Muglia, Maria, Cavalcanti, Francesca, Cavallaro, Sebastiano, Mercuri, Eugenio, Battaglia, Domenica

“…Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory,…”
Get full text

Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation by Perulli, Marco, Cicala, Gianpaolo, Turrini, Ida, Musto, Elisa, Quintiliani, Michela, Gambardella, Maria Luigia, Pulitanò, Silvia Maria, Bompard, Sarah, Staccioli, Susanna, Carmillo, Laura, Di Sante, Gabriele, Ria, Francesco, Veredice, Chiara, Contaldo, Ilaria, Battaglia, Domenica

“…•Early recognition of FIRES is key to provide possibly disease-modifying therapies.•Serum IL-1RA dosage may help to support treatment intensification.•Anakinra…”
Get full text

Surgery of children with frontal lobe lesional epilepsy: Neuropsychological study by Chieffo, Daniela, Lettori, Donatella, Contaldo, Ilaria, Perrino, Francesca, Graziano, Alessandra, Palermo, Concetta, Mittica, Antonio, Tamburrini, Giampiero, Battaglia, Domenica, Di Rocco, Concezio, Guzzetta, Francesco

“…Abstract Aim of the study was to provide new data about the evolution of neuropsychological findings in patients with lesional frontal lobe epilepsy (FLE)…”
Get full text

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations by Cetica, Valentina, Chiari, Sara, Mei, Davide, Parrini, Elena, Grisotto, Laura, Marini, Carla, Pucatti, Daniela, Ferrari, Annarita, Sicca, Federico, Specchio, Nicola, Trivisano, Marina, Battaglia, Domenica, Contaldo, Ilaria, Zamponi, Nelia, Petrelli, Cristina, Granata, Tiziana, Ragona, Francesca, Avanzini, Giuliano, Guerrini, Renzo

“…OBJECTIVE:To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS:Combining sex, age/fever at…”
Get full text

Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome by Perri, Lucrezia, Viscogliosi, Germana, Trevisan, Valentina, Brogna, Claudia, Chieffo, Daniela Pia Rosaria, Contaldo, Ilaria, Alfieri, Paolo, Lentini, Nicolo', Pastorino, Roberta, Zampino, Giuseppe, Leoni, Chiara

“…Medical professionals frequently underestimate stress level of parents/caregivers of patients with rare disorders as RASopathies, the latter might experience…”
Get full text

Short- vs long-term assessment of heart rate variability: Clinical significance in Dravet Syndrome by Perulli, Marco, Scala, Irene, Venditti, Romina, Amadio, Antonio, Luigia Gambardella, Maria, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Della Marca, Giacomo, Brunetti, Valerio, Battaglia, Domenica Immacolata

“…Heart rate variability (HRV) is a promising prognostic biomarker in Dravet Syndrome (DS), but different studies are not always comparable, limiting its…”
Get full text

A novel IRF2BPL truncating variant is associated with endolysosomal storage by Ginevrino, Monia, Battini, Roberta, Nuovo, Sara, Simonati, Alessandro, Micalizzi, Alessia, Contaldo, Ilaria, Serpieri, Valentina, Valente, Enza Maria

“…De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological…”
Get full text

Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress by Porto, Chiara, Perulli, Marco, Arpaia, Chiara, Villa, Marianna, Arcangeli, Valentina, Quintiliani, Michela, Gambardella, Maria Luigia, Brando, Carolina, Contaldo, Ilaria, Veredice, Chiara, Zaghi, Vania, Canepa, Giovanna, Borroni, Simona, Chieffo, Daniela Pia Rosaria, Battaglia, Domenica Immacolata

“…•Current rehabilitation practices are poorly defined in Dravet Syndrome.•This survey provides a comprehensive view of rehabilitation in Italy.•Speech therapy…”
Get full text

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes by Ferraroli, Elisabetta, Perulli, Marco, Veredice, Chiara, Contaldo, Ilaria, Quintiliani, Michela, Ricci, Martina, Venezia, Ilaria, Citrigno, Luigi, Qualtieri, Antonio, Spadafora, Patrizia, Cavalcanti, Francesca, Battaglia, Domenica Immacolata

“…Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle…”
Get full text

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series by Ronzano, Nadia, Scala, Marcello, Abiusi, Emanuela, Contaldo, Ilaria, Leoni, Chiara, Vari, Maria Stella, Pisano, Tiziana, Battaglia, Domenica, Genuardi, Maurizio, Elia, Maurizio, Striano, Pasquale, Pruna, Dario

“…PURPOSEEEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of…”
Get full text