Search results for " Infant"

Comorbilidad entre trastornos de conducta y depresión mayor en la adolescencia: prevalencia, teorías explicativas y estatus nosológico

2009

This theoretical study examines the main findings and researches regarding the comorbidity between conduct disorder and major depression in adolescence. On the one hand, it is argued that high prevalence of comorbidity imply common risk factors (biological, cognitive- emotional and socio-cultural) and a causal relationship between these mental illness, usually conduct disorder preceding major depression. On the other hand, independent nosological status of this comorbidity» is advocated on the basis of several external criteria (e.g. response to treatment, course into adulthood and psychopathological profile), which distinguish this mixed clinical entity from conduct disorder and major depr…

Il tempo del sociale nell'adolescenza

2009

Acogimiento familiar: estudio de las interacciones ante las visitas familiares

1999

La ley orgánica 1/96 sobre Protección Jurídica del niño, establece una medida de protección denominada acogimiento familiar preadoptivo, en aquellos supuestos en donde se valora como irreversible el retorno a la familia de origen del niño, y en donde se dispone de una familia alternativa para la integración social de los niños. La regulación del régimen de visitas compete, en primer lugar, a la administración responsable de la protección a la infancia y, en segundo lugar, a la Fiscalía de Menores, quien a través del Juzgado de Familia podrá regular judicialmente el régimen de visitas. El desarrollo de estas visitas y su plasmación en actos concretos está mediatizado por la complejidad de la…

Different types of intestinal atresia in identical twins

2008

The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.

Diagnostic Accuracy of Fecal Calprotectin Assay in Distinguishing Organic Causes of Chronic Diarrhea from Irritable Bowel Syndrome: A Prospective Stu…

2003

AbstractBackground: Fecal calprotectin (FC) has been proposed as a marker of inflammatory bowel disease (IBD), but few studies have evaluated its usefulness in patients with chronic diarrhea of various causes. We evaluated the diagnostic accuracy of a FC assay in identifying “organic” causes of chronic diarrhea in consecutive adults and children.Methods: We consecutively enrolled 70 adult patients (30 males, 40 females; median age, 35 years) and 50 children (20 males, 30 females; median age, 3.5 years) with chronic diarrhea of unknown origin. All patients underwent a complete work-up to identify the causes of chronic diarrhea. FC was measured by ELISA.Results: In adult patients, FC showed 6…

COVID-19 in Infants Less than 3 Months: Severe or Not Severe Disease?

2022

Abstract: Compared to adults, severe or fatal COVID-19 disease is much less common in children. However, a higher risk for progression has been reported in infants. Different pediatric COVID-19 severity scores are reported in the literature. Methods: Subjects under 90 days of age admitted to 35 Italian institutions for COVID-19 were included. The severity of COVID-19 was scored as mild/moderate or severe/critical following the classification reported in the literature by Venturini, Dong, Kanburoglu, and Gale. To assess the diagnostic accuracy of each classification system, we stratified all enrolled patients developing a posteriori severity score based on clinical presentation and outcomes…

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B

2017

To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…

Selenium status during pregnancy: Influential factors and effects on neuropsychological development among Spanish infants

2017

Selenium(Se) has been positively associated with neurodevelopment in early life. However, its margin of safety is rather narrow, and few prospective studies have evaluated its potential neurotoxic effects at intermediate levels. We aimed to explore the association between maternal Se concentrations and child neuropsychological development, including the genetic effect modification of the Se metabolizing gene INMT. Study subjects were 650 mother-child pairs from the Spanish Childhood and Environment Project (INMA, 2003-2005). Infant neuropsychological development was assessed around 12 months of age by the Bayley Scales of Infant Development. Sociodemographic and dietary characteristics were…

PRRT2 mutations are the major cause of benign familial infantile seizures.

2012

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

2015

Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55 % of cases) and EP300 (~8 %) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30–50 %) and deletions (~10 %). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecu…