24 research outputs found
HUBUNGAN ANTARA KOMUNIKASI INTERPERSONAL DENGAN KEPERCAYAAN DALAM BERPACARAN JARAK JAUH PADA DEWASA AWAL
Penelitian ini bertujuan untuk mengetahui hubungan antara komunikasi interpersonal dengan kepercayaan dalam berpacaran jarak jauh pada dewasa awal. Subjek pada penelitian ini merupakan dewasa awal yang sedang menjalin hubungan pacaran jarak jauh. Jumlah dari keseluruhan subjek pada penelitian ini adalah 51 subjek. Pada penelitian ini menggunakan menggunakan alat ukur berupa skala komunikasi interpersonal dan skala kepercayaan. Teknik analisis data yang digunakan pada penelitian ini adalah Product Moment Pearson. Hasil analisis penelitian memperoleh nilai koefisien korelasi rxy = 0,631 dan nilai p<0,01 yang menunjukan bahwa hipotesis pada penelitian ini diterima. Artinya hipotesis hubungan signifikan antara komunikasi interpersonal dengan kepercayaan dalam berpacaran jarak jauh pada dewasa awal
Environmental impact assessment: Smith Gardens slope stabilization and long plat applications
Smith Gardens, Inc is a supplier of garden products in the northwest. Operating as a family-owned business, owned by Terry and Carolyn Smith, the company has been functioning for over 100 years. The site (1265 Marine Drive) is located just outside the Urban Growth Area of Bellingham and is over 15 acres. There are two applications for this property: (1) a proposal to subdivide the parcel and build 15 new houses, and (2) to stabilize the bluff near Bellingham Bay, which is at the south tip of the property
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation-wide project focused on identifying novel disease genes for rare pediatric diseases using whole-exome sequencing. We retrospectively selected all FORGE Canada projects that included cerebellar ataxia as a feature. We identified 28 such families and a molecular diagnosis was made in 13; a success rate of 46%. In 11 families, we identified mutations in genes associated with known neurological syndromes and in two we identified novel disease genes. Exome analysis of sib pairs and/or patients born to consanguineous parents was more likely to be successful (9/13) than simplex cases (4/15). Our data suggest that exome sequencing is an effective first line test for pediatric patients with ataxia where a specific single gene is not immediately suspected to be causative. © 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc
Non-Visual Effects of Light on Melatonin, Alertness and Cognitive Performance: Can Blue-Enriched Light Keep Us Alert?
Light exposure can cascade numerous effects on the human circadian process via the non-imaging forming system, whose spectral relevance is highest in the short-wavelength range. Here we investigated if commercially available compact fluorescent lamps with different colour temperatures can impact on alertness and cognitive performance
La figure du philosophe dans les lettres anglaises et françaises
Qui est philosophe ? Le philosophe de l’époque moderne (XVIe-XIIIe siècles) est une figure mouvante, dont l’activité s’oppose à celle de son prédécesseur, plus enclin à la contemplation de la vérité, ainsi qu’à celle de son descendant du XIXe siècle, professionnel de la philosophie. Le philosophe, tel que l’envisage cet ouvrage, est à la fois personnage fictif, incarnation reconnaissable d’un type ou d’une spécialité, et personnage réel, convoqué dans le récit au gré de l’argumentation. Il peut s’agir de l’auteur lui-même qui tente de se définir comme tel, comme les études sur Hobbes ou Diderot dans ce volume le soulignent. Il peut être question d’un philosophe appartenant au passé, grande figure qui traverse les siècles et les discours, à l’instar de Socrate ou de Montaigne. Il peut encore être question de figures génériques, comme celles que Hume place en face de lui dans ses Essais. La représentation du philosophe peut enfin prendre place dans une construction fictionnelle, philosophe naturel de l’académie de Lagado comme penseur chez Cyrano. S’interroger sur la figure du philosophe dans sa variété méthodologique plus que dans l’exhaustivité d’un inventaire, permet de saisir des modes d’écriture, de comprendre comment la prose devient philosophique : cette figure met en valeur, sur le mode mineur, le travail de la philosophie
A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats
We extend the spectrum of phenotypes caused by mutations in the Wnt/Norrin coreceptor low,density lipoprotein receptor-related protein 5 (LRP5) by identifying two novel types of mutation in related individuals whose presenting features were profound muscle hypotonia, mild mental retardation, blindness, and growth retardation. One mutation removes 6 out of 9 consecutive leucine residues in the LRP5 signal peptide (c.43_60del or p.Leu15_Leu20-del), which impairs polypeptide entry into the endoplasmic reticulum (ER), trafficking to the cell membrane, and signal transduction. The second mutation resulted front nonhomologous recombination between Alu repeat sequences, which deleted exons 14-16 and would produce a nonfunctional, truncated, and frameshifted polypeptide, if expressed [chr11:g. (138714471387511)(1387963613879700) del (NW_925106.1) or p.Pro1010GlnfsX38]. We confirmed that the length of the LRP5 signal peptide poly-leucine repeat is polymorphic in the general population, and, importantly, we were able to demonstrate in independent in vitro assays that different allele sizes affect receptor processing and signal transduction. Consequently, this polymorphism may have physiologic effects in vivo. This latter finding is relevant since through a genomewide search we identified nearly 400 human proteins that contain poly-leucine repeats within their signal peptide. We chose 18 of these proteins and genotyped the underlying trinucleotide repeat in healthy Caucasian individuals. More than one length allele was observed in one-half of the proteins. We therefore propose that natural variation in poly-leucine-stretches within signal peptides constitutes a currently unrecognized source of variability in protein translation and expression. Hum Mutat 30, 641-648, 2009. (C) 2008 Wiley-Liss, Inc
Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia
Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation-wide project focused on identifying novel disease genes for rare pediatric diseases using whole-exome sequencing. We retrospectively selected all FORGE Canada projects that included cerebellar ataxia as a feature. We identified 28 such families and a molecular diagnosis was made in 13; a success rate of 46%. In 11 families, we identified mutations in genes associated with known neurological syndromes and in two we identified novel disease genes. Exome analysis of sib pairs and/or patients born to consanguineous parents was more likely to be successful (9/13) than simplex cases (4/15). Our data suggest that exome sequencing is an effective first line test for pediatric patients with ataxia where a specific single gene is not immediately suspected to be causative
Sociable (social) science – crafting new relationships between research and government
The civil service represents a significant community of analysts and researchers, but their work can at times seem independent from that taking place within academia. Ben Hepworth describes how the UK’s Ministry of Justice has worked to reframe its relationship with external academics and how a more collaborative and co-productive approach has enabled the department to approach emerging challenges in innovative ways
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints