Search results for "prenatal"
showing 10 items of 419 documents
Neuronal ceroid-lipofuscinoses: The current status
1992
In view of the epidemiological connotation of childhood neuronal ceroid-lipofuscinosis (NCL) as one of the most frequent progressive lysosomal diseases and neurodegenerative disorders in children, the recognition of the individual clinical forms of childhood NCL is still based on invasive diagnostic electronmicroscopy which, currently, may be applied also for prenatal diagnosis. Like other inherited disorders, the NCL group has finally also benefited from the genetic breakthroughs of localization of the genes for infantile NCL and juvenile NCL on chromosomes 1 and 16, respectively. This review concerns recent advances in morphological studies, broadening of the clinical spectrum of childhoo…
The association between passive and active tobacco smoke exposure and child weight status among Spanish children
2016
This study was funded by grants from Instituto de Salud Carlos III (Red INMA G03/176, CB06/02/0041), Spanish Ministry of Health (FIS-97/1102, FIS07/0252,FIS-PS09/00362, 97/0588, 00/0021-2, PI061756, PS0901958, PI14/00677 incl. FEDER funds, FIS-PS09/00090, PI041436, FIS-PI042018, FIS-PI06/0867,PI081151 incl. FEDER funds, FIS-PI09/02311, and FIS-PI13/02187 and FIS-FEDER 03/1615, 04/1509, 04/1112, 04/1931, 05/1079, 05/1052, 06/1213, 07/0314, 09/02647, 11/01007, 11/0178, 11/02591, 11/02038, PI12/01890 incl. FEDER funds, 13/1944, 13/2032, FIS-PI13/02429, 14/0891, 14/1687, and CP13/00054 incl. FEDER funds), Spanish Ministry of Economy and Competitiveness (SAF2012-32991 incl. FEDER funds), CIBERES…
Systematic review of prenatal exposure to endocrine disrupting chemicals and autism spectrum disorder in offspring.
2021
Epidemiological studies, which can have inherent methodological limitations, are used to study the relation between endocrine disrupting chemicals and autism spectrum disorder. The objective is to systematically review the treatment of methodological limitations and assess the quality and strength of the findings in the available literature. The quality and strength of the evidence were evaluated using the Navigation Guide Systematic Review Methodology. The overall quality and strength of the available studies were “moderate” and “limited,” respectively. Risk of bias due to the methodological limitations regarding the exclusion of potential confounding factors and the lack of accuracy of e…
Targeting the Stress System During Gestation: Is Early Handling a Protective Strategy for the Offspring?
2020
The perinatal window is a critical developmental time when abnormal gestational stimuli may alter the development of the stress system that, in turn, influences behavioral and physiological responses in the newborns. Individual differences in stress reactivity are also determined by variations in maternal care, resulting from environmental manipulations. Despite glucocorticoids are the primary programming factor for the offspring's stress response, therapeutic corticosteroids are commonly used during late gestation to prevent preterm negative outcomes, exposing the offspring to potentially aberrant stress reactivity later in life. Thus, in this study, we investigated the consequences of one…
Effects of 8-OH-DPAT on open field performance of young and aged rats prenatally exposed to diazepam: a tool to rveal 5-HT1a receptor function
2003
Central GABAergic and serotoninergic systems interact with one another and are implicated in controlling different behaviours. A gentle early long-lasting handling can prevent the deficits in locomotion and exploration in open field (O.F.) in 3-month-old male rats prenatally exposed to diazepam (DZ). Purpose of this study was to extend the research to older handled rats prenatally exposed to DZ and to assess the activity of 5-HT1A receptors (Rs), evaluating the performance in O.F. at 3 and 18 months of age following 8-OH-DPAT administration. A single daily s.c. injection of DZ (1.5 mg/kg) from gestation day 14 to gestation day 20 induced in aged, but not in young rats, a decrease in total d…
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…
2021
Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…
Multiple congenital contractures (Congenital multiple arthrogryposis)
2002
Arthrogryposis, is the occurrence of joint contractures of variable etiology that start prenatally. Arthrogryposis may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, [figure: see text] or fetal crowding. Arthrogryposis may result from no apparent hereditary causes (neuropathic, for example) or may be the result of hereditary factors (myopathic form, for example). Ultrasound diagnosis depends on observation of scant or absent motion of fetal extremities. Prognosis depends on the specific etiology of the contractures.
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
PRENATAL DIAGNOSIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCID) BY FLOWCYTOMETRIC INVESTIGATION OF FETAL BLOOD
1987
Prenatal diagnosis of SCID has until now been limited due to the inability of obtaining sufficient fetal blood volumes for immunological investigation. - We report the diagnosis of x-linked SCID at 19 weeks of gestation by using 200μl fetal blood for flowcytometrio evaluation. Amniocentesis was performed in the 17th week of pregnancy on a 36 year old woman with positive family history for X-linked SCID. chromosome analysis revealed a normal male caryotype. To confirm the suspected diagnosis of SCID a fetal blood sample was taken by puncturing the umbilical cord vein under sonographic control at 19 weeks of gestation. 300μl were used to perform chromosome analysis, the remaining 200μl were p…
Bioeffects of ultrasound: an experimental study on human embryos.
1991
Abstract The foetuses of 10 women at 9–12 weeks gestation were irradiated with ultrasound under typical diagnostic exposure conditions immediately prior to abortion. Electron microscopy of liver fragments revealed neither morphological nor structural changes.