Search results for "Nancy"
showing 10 items of 2268 documents
Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta
1995
The composition of the collagens secreted into the media of fibroblast cultures of 39 patients with osteogenesis imperfecta (OI) was the same in controls and OI cultures. An abnormal migration pattern of collagens upon SDS-PAGE was evident in one third of the cultures investigated. Lysyl and prolyl hydroxylation of HPLC-purified alpha 1(I) chains was elevated in about 60% of cultures. The degree of hydroxylation was highest in the lethal forms. The extent of lysyl and prolyl hydroxylation showed a strong correlation (r = 0.74, P < 0.001). While high levels of hydroxylation are frequently observed in OI patients, a direct correlation between lysyl or prolyl hydroxylation and fracture rate or…
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
2015
International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including…
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…
Histological and fine structural features of pancreatic ductal adenocarcinomas in relation to growth and prognosis: studies in xenografted tumours an…
1985
Histology and fine structure of pancreatic ductal adenocarcinomas were assessed with respect to their significance for tumour growth and prognosis. The histological parameters included glandular differentiation, nuclear anaplasia, nuclear size, and mitotic activity (number of mitoses per high power field). Using these criteria three grades of malignancy were distinguished. They correlated well with the growth kinetics of seven human pancreatic ductal adenocarcinomas transplanted into nude mice. The tumour doubling time of a G 3 carcinoma was about half that of a G 1 carcinoma. On electron microscopy the tumour grade was reflected in the degree of functional differentiation of the neoplastic…
Learning-induced neural plasticity of speech processing before birth
2013
Learning, the foundation of adaptive and intelligent behavior, is based on plastic changes in neural assemblies, reflected by the modulation of electric brain responses. In infancy, auditory learning implicates the formation and strengthening of neural long-term memory traces, improving discrimination skills, in particular those forming the prerequisites for speech perception and understanding. Although previous behavioral observations show that newborns react differentially to unfamiliar sounds vs. familiar sound material that they were exposed to as fetuses, the neural basis of fetal learning has not thus far been investigated. Here we demonstrate direct neural correlates of human fetal l…
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…
Perceptions and experiences of parenthood and maternal health care among Latin American women living in Spain: A qualitative study
2013
Objective: to explore the experiences and perceptions of parenthood and maternal health care among Latin American women living in Spain. Design: an exploratory qualitative research using focus groups and thematic analysis of the discussion. Setting and participants: three focus groups with 26 women from Bolivia and Ecuador and three focus groups with 24 midwives were performed in three towns in the Valencian Community receiving a large influx of immigrants. Findings: the women interpreted motherhood as the role through which they achieve fulfilment and assumed that they were the ones who could best take care of their children. They perceived that men usually make decisions about sex and pre…
Association of loss of 1p and alterations of chromosome 14 in meningioma progression
2004
Meningiomas are usually benign tumors; however, they can recur after surgical resection and occasionally show histologic progression to a higher grade II and III malignancy. The second most frequently reported genetic abnormality after 22q loss is deletion of 1p, although alterations in 9q, 10q, and 14q are also implicated in meningioma progression. Fourteen tumors comprising six benign, four atypical, and four malignant meningiomas were examined by means of cytogenetic and fluorescence in situ hybridization analysis. All tumors showed losses in different regions of 1p, with 1p11, 1p13, 1p21, 1p22, 1p32, and 1q21 breakpoints; eight tumors also presented alterations of chromosome 14. Five of…
Prospective, blinded comparison of cytology and DNA-image cytometry of brush biopsies for early detection of oral malignancy
2012
summary Objectives: Adjunctive techniques like DNA image cytometry (DNA-ICM) have been attributed to enhance the diagnostic performance of oral brush biopsies. The aim of the study was an evaluation of brush biopsies, analysed according to morphological criteria and by DNA-ICM vs. histological findings in a blinded prospective trial. Materials and methods: Eighty eight brush biopsies of 70 patients were sampled. Only clinical suspicious but not evident malignant oral lesions were included. Clinical diagnosis was leukoplakia (n = 36), lichen planus (n = 18), verruciform erythroplakia (n = 12), erythroleukoplakia (n = 9), erosion (n = 7) and induration (n = 6). Evaluation was conducted via hi…