Search results for " Delay"
showing 10 items of 442 documents
Developmental and Early Life Origins of Cardiometabolic Risk Factors
2021
The intent of this review is to critically consider the data that support the concept of programming and its implications. Birth weight and growth trajectories during childhood are associated with cardiometabolic disease in adult life. Both extremes, low and high birth weight coupled with postnatal growth increase the early presence of cardiometabolic risk factors and vascular imprinting, crucial elements of this framework. Data coming from epigenetics, proteomics, metabolomics, and microbiota added relevant information and contribute to better understanding of mechanisms as well as development of biomarkers helping to move forward to take actions. Research has reached a stage in which suff…
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
2013
International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…
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…
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
2020
Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
Babies of the War: Effect of War Exposure Early in Life on Mortality Throughout Life
2015
There is increasing evidence that circumstances very early in our lives, and particularly during pregnancy, can affect our health for the remainder of life. Studies that have looked at this relationship have often used extreme situations, such as famines that occurred during wartime. Here we investigate whether less extreme situations during World War II also affected later-life mortality for cohorts born in Belgium, France, The Netherlands, and Norway. We argue that these occupied countries experienced a considerable deterioration in daily life situations and show that this resulted in strongly increased mortality rates and lower probabilities of survival until age 55 among civilian popula…
Femininity and Fertility in Sisters with Twin Brothers: Prenatal Androgenization? Cross-Sex Socialization?
2002
Are sisters of twin brothers behaviorally or physiologically masculinized? Prenatal exposure to their brothers' androgens and postnatal socialization experiences unique to girls growing up with twin brothers might influence their attitudes, pubertal development, and reproductive histories. To investigate, we studied age- and cohort-matched samples of Finnish sisters from same-sex and opposite-sex twin pairs. Using data from two ongoing longitudinal studies of consecutive birth cohorts of Finnish twins, we assessed pubertal development at ages 11 and 14 and endorsement of attitudes associated with femininity at age 16. We also studied fertility in Finnish women from same- and opposite-sex t…
Digit ratio (2D:4D) is associated with traffic violations for male frequent car drivers
2009
Digit ratio (2D:4D) is a putative marker of prenatal hormone exposure. A lower digit ratio has been suggested as an index of higher testosterone relative to estrogen exposure during prenatal development. Digit ratio has been associated with a variety of psychological sex-dimorphic variables, including spatial orientation, aggression, or risk-taking behavior. The present study aimed to relate digit ratio to traffic violations for a male sample (N = 77) of frequent car drivers. Digit ratio was assessed via printout scans of the hand, and traffic offense behavior was assessed via self-reported penalty points as registered by the Central Register of Traffic Offenders in Germany. In addition, so…
Prenatal exposure to organochlorine compounds and neuropsychological development up to two years of life
2012
Polychlorinated biphenyls (PCB), hexachlorobenzene (HCB), and dichlorodiphenyl dichloroethylene (pp′DDE) are persistent, bioaccumulative, and toxic environmental pollutants with potential neurotoxic effects. Despite a growing body of studies investigating the health effects associated with these compounds, their specific effects on early neuropsychological development remain unclear. We investigated such neuropsychological effects in a population-based birth cohort based in three regions in Spain (Sabadell, Gipuzkoa, and Valencia) derived from the INMA [Environment and Childhood] Project. The main analyses in this report were based on 1391 mother–child pairs with complete information on mat…
Diagnostic delay in oral squamous cell carcinoma: the role of cognitive and psychological variables
2014
This retrospective study investigated, in two cohorts of subjects living in Southern Italy and awaiting treatment for oral squamous cell carcinoma (OSCC), the variables related to diagnostic delay ascribable to the patient, with particular reference to the cognitive and psychological ones. A total of 156 patients with OSCC (mean age: 62 years, M/F: 2.39∶1) were recruited at the Universities of Palermo and Naples. Risk factors related to patient delay included: sociodemographic, health-related, cognitive and psychological variables. The analysis was conducted by considering two different delay ranges: dichotomous (≤1 month vs. >1 month) and polytomous (3 months) delay. Data were investigated…