IPOGLICEMIA NEONATALE: RILIEVI EPIDEMIOLOGICI IN UN CAMPIONE DI NEONATI RICOVERATI (2012-2017)

ipoglicemia neonatale

Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates

The aim of this work is to establish inclusive guidelines on electroencephalography (EEG) applicable to all neonatal intensive care units (NICUs). Guidelines on ideal EEG monitoring for neonates are available, but there are significant barriers to their implementation in many centres around the world. These includebarriers due to limited resources regarding the availability of equipment and technical and interpretive round-the-clock personnel. On the other hand, despite its limitations, amplitude-integrated EEG (aEEG) (previously called Cerebral Function Monitor [CFM]) is a common alternative used in NICUs.The Italian Neonatal Seizure Collaborative Network (INNESCO), working with all nation…

PROFILO DI RISCHIO DEL NEONATO LATE PRETERM: DISTURBI DEL NEUROSVILUPPO E RUOLO DEL FOLLOWUP

Copy number variations in the etiology of autism spectrum disorders

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…

Microcephaly a clinical-genetic and neurologic approach

Internet out of control: The role of self-esteem and personality traits in pathological internet use

Objective: Young people seem particularly likely to develop pathological Internet use (PIU) with the use of social networks, chat, and videos. Sensation-seeking, neuroticism, introversion, and low self-esteem are personality features frequently associated with the disease. The aim of this study was to replicate and to extend previous findings by exploring the combined effect of personality traits and self-esteem on PIU. Method: A sample of 652 male students attending vocational technical schools in Palermo (Southern Italy) was assessed using the following measures: the Zuckerman-Kuhlman Personality Questionnaire to evaluate personality traits; the Multidimensional Self-Concept Scale to asse…

WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

POTENZIALI EVOCATI VISIVI DA FLASH IN GEMELLI IN EPOCA NEONATALE. CORRELAZIONI CON LA ADEGUATEZZA DEL PESO CON LA ETA' GESTAZIONALE (AGA VS SGA)

Neonati AGA, SGA, PEV

PANCREAS ANULARE CON OSTRUZIONE DUODENALE IN EPOCA NEONATALE DESCRIZIONE DI UN CLUSTER DI TRE CASI

pancreas anulare, neonato

Assessment of Cardiac funcionality in term newborns born to diabetic mothers

OUTCOME DI SVILUPPO A BREVE TERMINE IN SOGGETTI SOTTOPOSTI A TRATTAMENTO IPOTERMICO

Trattamento ipotermico, asfissia

16P11.2 microdeletion/microduplication syndrome: Further characterization of a critical region for neuropsychiatric development

ENCEFALOPATIA NEONATALE. IL RUOLO DELLA INFEZIONE. ANALISI DI UN CAMPIONE DI 1107 NEONATI RICOVERATI IN UTIN E TERAPIA SEMINTENSIVA

encefalopatia neonatale, infezione

Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females.

Kabuki's syndrome (KS), or Niikawa -Kuroki's syndrome, is a sporadic multiple congenital anomaly/mental retardation syndrome of unknown etiology. The clinical findings include a peculiar facial dysmorphism (oriental look), developmental delay, growth impairment, hypotonia, scoliosis, persistent fetal fingertip pads, overweight or obesity, hypodontia, heart defects, cleft palate and a variety of other structural defects. KS can present with a wide phenotypical and clinical spectrum that often makes diagnosis difficult.

Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism

aCGH, microduplication, autism

DISFUNZIONE MULTIORGANO (MOF) IN CORSO DI ENCEFALOPATIA NEONATALE. INDAGINE EPIDEMIOLOGICA SU UN CAMPIONE DI NEONATI OSSERVATI NEL PERIODO GENNAIO 2009 - MAGGIO 2016

encefalopatia, disfunzione multirogano

ASFISSIA PERINATALE:VALUTAZIONE CLINICO-EPIDEMIOLOGICA IN UN CAMPIONE DI NEONATI DI ≥ 34 SEG

Asfissia, late preterm, a termine

Copy number variations in the etiology of epilepsy

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…