Search results for "Infantil"
showing 10 items of 805 documents
Pediatric sialolithiasis distinctive characteristic in radiological imaging.
2011
Aim of the present paper was to investigate the imaging and related clinical characteristics of sialolithiasis in Italian pediatric population trying to determine the difference between pediatric and adult. Twenty-nine pediatric patients (age range 1-17 years) with pain and postprandial swelling and/or purulent discharge in the salivary gland areas were referred to radiology department after pediatric ear, nose and throat (ENT) evaluation. They all were submitted to ultrasound examination of the main salivary glands. Multidetector computed tomography (MDCT) only was performed in 2/6 patients, in 2/6 patients both sialography and MDCT were performed due to inconclusive MDCT features, 2/6 onl…
Social cognition and executive functions in children and adolescents with focal epilepsy
2020
Objectives: Deficits in facial emotion recognition and Theory of Mind are frequent in patients with epilepsy. Although this evidence, studies on pediatric age are few and the relation between these abilities and other cognitive domain remains to be better elucidated. The purpose of our study is to evaluate facial emotion recognition and Theory of Mind in children and adolescents with focal epilepsy, and correlate them with intelligence and executive functions. Materials and methods: Our work is a cross-sectional observational study. Sixty-two children and adolescents aged between 7-16 years diagnosed by focal epilepsy and 32 sex/age-matched controls were recruited. All participants were adm…
The hairy elbows syndrome: clinical and neuroradiological findings.
2009
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrom…
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.
Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families
2012
Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…
Comprehensive laparoscopic approach to pediatric varicocele based on preoperative color Doppler ultrasound assessment
2008
Abstract: Background This study aimed to assess whether laparoscopic treatment for any kind of varicocele is possible after preoperative identification of refluxing veins by color Doppler ultrasound (CDUS). Methods At the authors'' institution, 98 patients with a median age of 11.3 years (range, 7.1-16 years) were evaluated for a left varicocele. Preoperatively, all the patients underwent ultrasound scan assessment of testicular volume and CDUS to rule out reflux into the internal spermatic vein (ISV), deferential vein, or cremasteric vein. In all the patients, laparoscopic division of the spermatic artery and veins was performed as close as possible to the internal inguinal ring. The other…
The hemodynamic approach to evaluating adolescent varicocele
2012
During adolescence, the risk of developing a varicocele increases. Prevalence is less than 1% in boys aged younger than 10 years, but approaches that of the general adult population (about 15%) during puberty. For adolescent males with varicoceles, surgical risk factors have not yet been clearly delineated and clinical severity correlates poorly with prognosis. Fortunately, the widespread use of Doppler ultrasonography is transforming the diagnostic work-up for this demographic. A continuous reflux detected by color Doppler ultrasound (CDUS) is thought to have a negative prognostic value and evidence suggests that a peak retrograde flow above 38 cm per second is a powerful predictor of lack…
Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study.
2007
Abstract Objective To evaluate sleep in children with autistic spectrum disorder (ASD) by means of sleep questionnaires and polysomnography; moreover, to analyze their cyclic alternating pattern (CAP). Methods Thirty-one patients with ASD (28 males, 3 females, aged 3.7–19 years) and age-matched normal controls were included. ASD children were evaluated by a standard sleep questionnaire that consisted of 45 items in a Likert-type scale covering several areas of sleep disorders and by overnight polysomnography in the sleep laboratory after one adaptation night. Results The questionnaire results showed that parents of ASD children reported a high prevalence of disorders of initiating and maint…
Minor physical anomalies in children with autism spectrum disorder.
2007
Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…
Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea.
1990
The spectrum of clinical disease associated with specific defects in jejunal brush border membrane sodium/proton exchange is poorly defined and only two patients have been described so far. Jejunal brush border membrane transport studies were performed in a boy who presented with lethal familial protracted diarrhoea in the first few days of life. Using jejunal brush border membrane vesicles prepared from conventional jejunal biopsy specimens, initial sodium uptake under H+ gradient conditions was found to be only 6% of the mean control value. In contrast, sodium stimulated glucose uptake was normal. Our data confirm the importance of a congenital defect in this exchanger as a cause of sever…