Search results for "infant"
showing 10 items of 3339 documents
Myopathic form of arthrogryposis and microcirculation lesion.
1989
A microvascular lesion characterized by extensive platelet aggregation, thrombosis, vascular damage with hemorrhages was found in the muscle of a 2-month-old boy with a myopathic form of the arthrogryposis syndrome. The lesion morphologically resembled the vascular leakage seen in immunologically mediated tissue injury. A degradative effect of proteases released during platelet and neutrophil aggregation on the muscle and joints is suggested.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Infantile intranuclear rod myopathy.
1997
This report concerns three unrelated floppy infants, two girls and one boy, each biopsied at the age of 1 month. They were hypotonic since birth and required artificial ventilation. The two girls died at the ages of 4 and 3½ months, respectively, the boy is still alive at the age of 2 years, but requires assisted ventilation. Each of the three infants showed, by muscle biopsy, abundant intranuclear rods, the boy and one girl also had sarcoplasmic rods, which were not present in the other girl's muscle. Absence of sarcoplasmic rods, but the presence of intranuclear rods could also be documented in her autopsied muscle. Using an antibody against α-actinin, immunoelectron microscopy showed re…
European Network for blood pressure research in children and adolescents
2021
High blood pressure is a clearly established modifiable risk factor for cardiovascular and renal disease. Although most of its adverse effects develop in adulthood, it has become clear that high BP is a lifelong problem that can manifest early in life. While few would dispute the importance of taking effective steps to identify and manage this condition in middle-aged and elderly individuals, relatively little attention has been paid to the problem of high BP in children and adolescents. Therefore, the development of actions focused on early childhood, childhood and adolescence and the investigation of the underlying causes of this epidemic are of utmost importance. There is a pressing need…
Prevalence and Time Trends in Myopia Among Children and Adolescents.
2020
Background Myopia (near-sightedness) is increasing worldwide, especially in Asia. The aim of this study was to describe trends in the prevalence of myopia in Germany. Methods We analyzed data from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS; baseline survey 2003-2006, N = 17 640; wave 2, 2014-2017, N = 15 023). The presence of myopia was determined from a parent questionnaire and validated by the use of a visual aid. The population prevalence of myopia was calculated. Based on the KiGGS wave 2 data, potential risk factors for myopia were identified by means of logistic regression. Results The prevalence of myopia at the age of 0-17 years in Germany…
Panorama general sobre formación inicial y empleabilidad de Docentes de EAPI en Chile
2022
Initial teacher training has been central to determine the quality of education, leaving behind basic training for more solid theoretical foundations, making improvements in teachers' statutes, increasing salaries and greater social valuation (Pedró, 2020). This study examines the initial training received by ECEC professionals in Chile, analyzing the level of training achieved by Chilean universities and the employment situation of their graduates, in order to identify the entry conditions and processes associated with professional quality. Being exploratory in nature, the characteristics of the IDF and the criteria associated with employability were examined, yielding categorical results …
Actitudes hacia el alumnado con discapacidad en educación física: validación de la EAADEF-EP a la etapa de educación primaria
2020
La investigación que aborda la inclusión del alumnado con discapacidad en educación física (EF) se presenta como un reto educativo en la actualidad. El objetivo de este estudio fue validar la Escala de Actitud hacia el Alumnado con Discapacidad en Educación Física (EAADEF) de Íñiguez-Santiago et al. (2017) a la etapa de educación primaria (EAADEF-EP). Participaron 465 estudiantes (rango 9-13 años) que cursaban 4º, 5º y 6º curso de la etapa de educación primaria obligatoria (EPO). Se confirmaron unos índices de ajuste adecuados para la adaptación de la EAADEF a EPO, mostrándose la estructura factorial invariante respecto al curso, género, el contacto previo con familiares o amigos con discap…
STUDIO DELL'ATTIVITA' ELETTRICA GASTRICA CON ELETTROGASTROGRAFIA IN NEONATI PRETERMINE
2000
Gli Autori hanno valutato la differenza dei dati elettrogastrografici basali in neonati a digiuno confrontando i nati a termine con i prematuri suddivisi in base alla età gestazionale in prima e dopo la 32ma settimana e in base alla presenza o meno di gemellarità. I dati raccolti consentono di concludere che le differenze riscontrate tra egg dei neonati a termine e dei prematuri sono da riportare ad alcuni fattori di rischio particolari. In effetti al di sopra di 32 settimane di gestazione e in assenza della gemellarità i dati sono sovrapponibili a quelli dei nati a termine.
Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing.
2010
Abstract Objective This study had two aims: (1) to document the auditory and lexical development of children who are deaf and received the first cochlear implant (CI) by the age of 16 months and the second CI by the age of 31 months and (2) to compare these children's results with those of children with normal hearing (NH). Methods This longitudinal study included five children with NH and five with sensorineural deafness. All children of the second group were observed for 36 months after the first fitting of the device (cochlear implant). The auditory development of the CI group was documented every 3 months up to the age of two years in hearing age and chronological age and for the NH gro…
Neuropsychological Profile, Emotional/Behavioral Problems, and Parental Stress in Children with Neurodevelopmental Disorders
2021
Background: The aim of our study was to trace a specific neuropsychological profile, to investigate emotional-behavioral problems and parental stress in children with Autism Spectrum Disorder Level 1/High functioning (ASD-HF), Specific Learning Disorders (SLD) and Attention Deficit/Hyperactivity Disorder (ADHD) disorders and to highlight similarities and differences among the three groups. Methods: We retrospectively collected the data from a total of 62 subjects with ASD-HF (n = 19) ADHD (n = 21), SLD (n = 22) and 20 typical development. All the participants underwent neuropsychological standardized test for the evaluation of cognitive profile (Wechsler Intelligence Scale for Children Four…