Tulane University

About: Tulane University is a education organization based out in New Orleans, Louisiana, United States. It is known for research contribution in the topics: Population & Blood pressure. The organization has 24478 authors who have published 47205 publications receiving 1944993 citations. The organization is also known as: University of Louisiana.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Abstract: To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10⁻⁶⁰) and 9q31.2 (P = 2.2 × 10⁻³³), we identified 30 new menarche loci (all P < 5 × 10⁻⁸) and found suggestive evidence for a further 10 loci (P < 1.9 × 10⁻⁶). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.

Abstract: Background The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimal therapy. This report describes the demographic and clinical characteristics of 1698 patients with GD before they received enzyme replacement therapy. Methods Physicians worldwide who treat patients with GD were invited to submit prospective and retrospective data for an ongoing registry, using standardized data collection forms, for central processing and review. Results Most patients were from the United States (45%) and Israel (17%), but patients are from 38 countries. Most (94%) had type 1 GD, fewer than 1% had type 2, and 5% had type 3. Mutant allele frequency data, available for 45% of patients, showed the most common alleles to be N370S (53%), L444P (18%), 84GG (7%), and IVS2+1 (2%). Twenty-five percent of L444P homozygotes (13 of 52 patients) had type 1 GD phenotype. Mean age at diagnosis in patients with the N370S/N370S genotype was 27.2 years (SD, 19.7 years); in L444P/L444P patients, 2.3 years (SD, 3.2 years). Histories of bone pain and radiological bone disease were reported by 63% and 94% of patients, respectively; both were more likely in asplenic patients than in patients with spleens. Mean spleen and liver volumes were 19.8 and 2.0 multiples of normal, respectively. Anemia and thrombocytopenia were present in 64% and 56%, respectively. Thrombocytopenia was present in 13% of asplenic patients. Conclusions The Gaucher Registry permits a comprehensive understanding of the clinical spectrum of GD because of the uniquely large sample size. The Registry will be useful in evaluating the effects of specific therapies in GD and the possible influences of environment, ethnicity, and genotype on the natural history of the disorder.

Theory of nonuniform electronic systems. I. Analysis of the gradient approximation and a generalization that works

Abstract: A complete wave-vector analysis has been made of the gradient coefficient for the exchange-correlation energy of a nonuniform electronic system. It is shown that the majority of the contribution comes from a very small but universal region of $\stackrel{\ensuremath{\rightarrow}}{\mathrm{k}}$ space near the origin. From this it can be concluded that random-phase-approximation-like calculations, like the present one or that of Rasolt and Geldart, which treat this region correctly, are likely to provide accurate results for the gradient coefficient and hence for the energy and structure of a system whose density is truly slowly varying. However, it also shows that the criterion for the validity of the gradient approximation itself is much more severe than previously supposed, so that the usual type of application, to say a surface or bulk material, is incorrect. For the surface case this is verified in unequivocal detail. On the other hand, a generalization of the gradient scheme based on an average slope instead of a local slope is proposed. This gives good agreement with limiting cases where they exist, and rough agreement with the interpolation scheme proposed previously by the authors.

Attachment in institutionalized and community children in Romania

Abstract: This study examined attachment in institutionalized and community children 12-31 months of age in Bucharest, Romania. Attachment was assessed using ratings of attachment behaviors and ratings of caregiver descriptions in a structured interview. As predicted, children raised in institutions exhibited serious disturbances of attachment as assessed by all methods. Observed quality of caregiving was related to formation and organization of attachment in children living in institutions. These results held even when other variables, such as cognitive level, perceived competence, and quantitative interaction ratings, were controlled for. Ratings of attachment behavior in the Strange Situation and caregiver reports of signs of Reactive Attachment Disorder converged moderately. The implications of these findings for different perspectives on attachment are discussed.