Search results for "perinatology"
showing 10 items of 1762 documents
Erste Erfahrungen mit Amisulprid, einem in Deutschland neuen, atypischen Neuroleptikum in der Behandlung von Jugendlichen mit psychischen Erkrankungen
2001
Zusammenfassung: Fragestellung: Neben den klassischen Neuroleptika finden bei Jugendlichen zunehmend atypische Neuroleptika zur Behandlung schizophrener und schizoaffektiver Psychosen Verwendung. Seit Beginn des Jahres 1999 ist in Deutschland in der Behandlung akuter schizophrener Psychosen ein neues, offensichtlich wirkungsvolles Neuroleptikum aus der Gruppe der Benzamide verfügbar: Amisulprid. Erste Erfahrungen mit der Anwendung von Amisulprid werden berichtet. Methode: Zehn gut dokumentierte Behandlungsverläufe bei Jugendlichen unter Behandlung mit Amisulprid werden hinsichtlich Effektivität, unerwünschter Wirkungen und Dosierung berichtet. Ergebnisse: Erste Erfahrungen im Einsatz von Am…
The Role of Preschool Hours in Achieving Physical Activity Recommendations for Preschoolers
2021
Research on physical activity (PA) in different educational settings could elucidate which interventions promote a healthy school lifestyle in early childhood education (ECE). The aims of this study were: (a) to analyse the PA levels of preschoolers during school hours, as well as the rate of compliance with specific recommendations on total PA (TPA) and moderate-vigorous PA (MVPA)
Recording Support Measures in the Sequential Pedagogical Documents of Children With Special Education Needs
2019
This study investigates the descriptions of support measures in the sequential pedagogical documents (individual education plans or programs and others) of children with special education needs from early childhood education and care to preprimary education. According to the previous research, the role of pedagogical work is largely disregarded in these documents, which typically focus on describing children’s challenges instead of support measures. In this study, the sequential pedagogical documents ( N = 257) of 64 Finnish children were studied for approximately 3 to 6 years, and the data were analyzed by investigating the textual and content-related coherence, as well as the linguistic …
Cáncer en los primeros 18 meses de vida
2020
Resumen: Introducción: La enfermedad oncohematológica continúa siendo la primera causa de mortalidad no traumática en la infancia y una importante causa de morbilidad. El paciente menor de 18 meses presenta particularidades clínicas, diagnósticas y terapéuticas que es interesante conocer por todo pediatra, con el fin de lograr una mayor supervivencia y una menor comorbilidad a lo largo de su vida. Material y métodos: Estudio descriptivo retrospectivo de variables clínicas, diagnósticas y terapéuticas en pacientes menores de 18 meses diagnosticados de enfermedad oncohematológica que reciben quimioterapia en una unidad de oncología pediátrica entre enero 2007 y agosto 2019. Resultados: Setent…
Overview of the pediatric healthcare system in Romania.
2020
Until 1989, Romania was one of the countries of the communist bloc in Europe and its healthcare system was characterized by centralized planning and severe underfunding, with low performance and low quality healthcare. Since 1998, Romania replaced the Semashko model with a social health insurance system, highly centralized under the management of the Ministry of Health as the central administrative authority. After joining the European Union, quality of life increased in our country and there were efforts to improve the quality of healthcare, including pediatric and neonatal care. Still, Romania has the lowest share of health expenditure of gross domestic product among the European Union Me…
Sirenomelia, case report and review of the literature.
2020
We present a case of sirenomelia diagnosed in the first trimester of pregnancy. The ultrasound examination showed fused lower extremities and an anechoic structure in the lower abdomen that is clue in the early diagnosis. The postmortem study showed the existence of a single umbilical artery (vitelline artery), with an origin in the abdominal aorta. This finding not only explained the presence of a vascular steal with subsequent underdeveloped of pelvic organs, but also differentiated this condition from caudal regression syndrome.
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
2014
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array-based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implica…
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12
2012
BACKGROUND: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutati…
Paper 6: EUROCAT member registries: organization and activities.
2011
BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…
Hirschsprung's disease prevalence in Europe: A register based study
2014
Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prev…