Search results for "Infantile"

ESPLORAZIONE ULTRASONOGRAFICA dello SCROTO. Ruolo Diagnostico ed Implicazioni Terapeutiche in Età Pediatrica

1989

Ultrasonography of the scrotal contents was used to identify 41 patients with testicular disease.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

2014

International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.METHODS:By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients from four families with IEE due to biallelic alterations of WWOX.RESULTS:We identified eight deleterious WWOX alleles consisting in four deletions, a four base-pair frameshifting deletion, one missense and two nonsense mutations. Genotype-phenotype correl…

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

2020

Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…

Effet d'une éducation sensorielle sur les préférences et les comportements alimentaires d'enfants âgés de 8 à 10 ans

2010

http://cepe.univ-poitiers.fr/tl_files/CepeArts/Recherche/colloques/ActesFunFood2010/PDF/p32.pdf; International audience

Perinatal management of gastroschisis

2014

Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burden…

Gli operatori e l’abuso infantile: quale formazione?

2009

Al di là della solitudine del bambino. Immaginario, forme e significati del maltrattamento infantile

2004

Use and “abuse” of psychotropic drugs in the adolescent offenders inmates

2010

Adolescent Deviance and Criminal Responsibility in the Italian Judicial System

2010

Focus on pediatric and adolescent varicocele: a single institution experience

2012

The aim of this study was to report our long-term diagnostic and surgical outcome during the last 18 years, in paediatric and adolescent management of varicocoele. The present retrospective study enrols 374 patients observed at our institution between 1994 and 2011. Patients were divided into three groups: Group A includes 142 youngsters and adolescents treated with open surgery for left varicocoele, in which a pre-operative CDUS was not performed; Group B includes 65 patients treated with open surgery in which a pre-operative CDUS evaluation was carried out, to assess varicocoele haemodynamic pattern and testicular volume. Group C includes 167 patients treated by laparoscopy and with pre-o…