Search results for " Preschool"

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

2010

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid s-galactosidase (GLB1). In addition, allelic variants of this gene can result in Morquio B disease (MBD), a phenotype with dysostosis multiplex and entire lack of neurologic involvement. More than 100 sequence alterations in the GLB1 gene have been identified so far, but only few could be proven to …

Celiac disease and selective immunoglobulin A deficiency

1997

Selective IgA deficiency was observed in 12 of 688 (1.7%) patients with celiac disease who were clinically undistinguishable from patients with celiac disease with normal IgA levels. This high prevalence of IgA deficiency in patients with celiac disease makes serum IgA assay advisable when screening for celiac disease is performed by measurement of antigliadin antibodies or anti-IgA endomysium antibodies. Similarly, subjects with IgA deficiency should be considered at risk of celiac disease.

Maternal Competence, Maternal Burnout and Personality Traits in Italian Mothers after the First COVID-19 Lockdown

2022

This study aimed to investigate the maternal sense of competence and maternal burnout in Italian mothers during the COVID-19 pandemic. The sample was composed of 278 mothers of children/adolescents aged 4 to 17 years old. Participants were recruited after the end of the first spring total Italian lockdown (June–October 2020) through online advertisements on websites and social media. We hypothesized a model in which a specific personality trait, such as neuroticism, affected maternal competence by the mediating role of maternal burnout. Results showed that neuroticism was directly and negatively predictive of perception of maternal competence, and it was negatively associated with maternal …

Use of the polymerase chain reaction to demonstrate hepatitis B virus DNA in serum of children with chronic hepatitis B.

1992

The polymerase chain reaction was used to investigate the presence of hepatitis B virus DNA in sera of 61 children with chronic hepatitis B and negative results on dot biot hybridization tests. Our results demonstrate that most chronic carriers of hepatitis B surface antigen in childhood have hepatitis B virus DNA detectable by polymerase chain reaction in their serum and must be considered infectious.

Auditory Event-Related Potentials in the Study of Developmental Language-Related Disorders

1997

This article reviews recent auditory event-related potential (ERP) studies of developmental language disorder (DLD) and dyslexia/reading disorder (RD). The possibility of using ERPs in searching for precursors of these disorders in the early development of infants at risk is also discussed. Differences in exogenous/sensory ERPs at the latency range of P1 and N1-P2 components have been reported between groups with DLD and RD and control groups. Latency differences between the groups may be related to a common timing deficit suggested by some researchers to be one of the possible underlying factors both in DLD and dyslexia. N1 amplitude group differences may be partly related to arousal/atten…

Sonographic biometry of liver and spleen size in childhood.

1983

In 194 healthy children of all ages, sonographic measurements of the liver and spleen were performed on standardized section planes and normal values established. These measurement values showed an approximately linear increase in the course of development and correlated best with the body length. For a rapid orientational evaluation of the liver size, sonographic nomograms of the individual measurements were developed. The spleen size was determined by volume calculation. On the basis of an index of liver size, which was calculated from the individual measurements, a diagram for simultaneous determination of liver and spleen size could be developed. These nomograms permit objective morphom…

Evaluation of the pulse wave arrival time as a marker for blood pressure changes in critically ill infants and children

1995

Objective. Pulse arrival time (PAT), which is the interval between the R wave of the electrocardiogram (ECG) and the arrival of the pulse wave peripherally, has been reported to be suitable for use as an indirect measure of blood pressure change. The purpose of this study was to evaluate, in critically ill infants and children, the degree to which 1/PAT covaries with systolic, diastolic, and mean blood pressure, as well as heart rate.Methods. A laboratory device was used to calculate PAT in real time from the ECG and the plethysmographic curve of pulse oximetry used for routine monitoring. Calculated PAT and corresponding blood pressures and heart rate were stored on hard disk. A total of 1…

Pertussis vaccines--1993.

1993

Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

2016

Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…

A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes

2016

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…