Search results for "Familial"
showing 10 items of 365 documents
Nelipīdu riska faktoru izvērtējums pacientiem ar ģimenes hiperholesterolēmiju
2018
Pamatojums: Ģimenes Hiperholesterinēmija (ĢH) raksturojas ar paaugstinātu zema blīvuma lipoproteīnu holesterīna (ZBL-H) koncentrāciju, kas ievērojami paaugstina agrīnu kardiovaskulāro slimību (KVS) attīstības risku. Papildus (ZBL-H) citu, ar lipīdiem nesaistītu, riska faktoru nozīmīgai ietekmei uz KVS attīstības risku, ir svarīga to identifikācija un kontrole jau dzīves laikā vai kopš bērnības. Mērķis: Raksturot un identificēt biežākos ar lipīdiem nesaistītus riska faktorus, kas var veicināt KVS attīstību pacientiem ar ĢH, kas tādējādi varētu palīdzēt akcentēt nozīmi to turpmākai kontrolei. Materiāli un metodes: Šī ir retrospektīva kohorta analīze pacientu grupai ar ticamu vai drošu ĢH diag…
Genetics of familial hypobetalipoproteinemia
2007
Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown. Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase tha…
Les organisations publiques : des institutions communicantes ? Le cas des Caisses d'Allocations Familiales
2009
L’objectif de cet article est de proposer une approche comprehensive de la communication des organisations publiques a travers le cas des Caisses d’Allocations Familiales (CAF). Les travaux dont il est issu ont eu pour objet d’interroger les representations des cadres, charges de communication et directeurs des CAF autour de la notion d’institution communicante. Il s’agit notamment de preciser si celle-ci releve d’un artefact ou pourrait -et a quelles conditions- constituer un modele valide pour analyser la communication des organisations publiques.
L’éducation au plurilinguisme dès l’enfance : des réalités aux moyens d’agir (Maghreb, particulièrement l’Algérie)
2017
Ce que nous apprend la psycholinguistique, en particulier les chercheurs qui œuvrent sur plusieurs langues et dans une perspective interculturelle, c’est le caractère essentiel des premières acquisitions : non seulement le langage à travers la langue 1, mais avec langage par la langue 1, les fondamentaux de la pensée, concepts-cadres et relations.Nous constatons que l’école exerce ensuite un passage brutal en langue de scolarisation, et refuse la langue1 ; pourtant celle-ci pourrait jouer l’indispensable rôle de transition (1re année primaire, par ex.) afin de relier les premières acquisitions socio-cognitives et langagières avec les apprentissages scolaires. What psycholinguistics teaches …
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets
2020
Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family which control SNARE complex formation and vesicle fusion. We have previously identified FHL3-associated mutations in the first intron of UNC13D which control transcription from an alternative transcriptional start site. Using isoform specific antibodies, we demonstrate that this alternative Munc13-4 isoform with a unique N-terminus is preferentially expressed in human lymphocytes and platelets, as…
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
2017
PubMed ID: 29047407
Predicting delayed letter name knowledge and its relation to grade 1 reading achievement in children with and without familial risk for dyslexia
2006
The authors examined the developmental trajectories of children's early letter knowledge in relation to measures spanning and encompassing their prior language-related and cognitive measures and environmental factors and their subsequent Grade 1 reading achievement. Letter knowledge was assessed longitudinally at ages 4.5, 5.0, 5.5, and 6.5 years; earlier language skills and environmental factors were assessed at ages 3.5 and 4.5 years; and reading achievement was assessed at the beginning and end of Grade 1. The analyses were conducted on a longitudinal data set involving children with and without familial risk for dyslexia. Emerging from the trajectory analysis of letter knowledge were 3 …
L'esprit de famille - Après les réformes du droit des successions et des libéralités
2007
Le droit des successions et des liberalites vient de connaitre, coup sur coup, deux reformes qui renovent profondement la matiere. La famille a cause de mort qui se dessine au travers des regles de l'heritage n'est plus tout a fait la meme. La loi successorale prend en compte le resserrement de la famille autour du couple et des enfants, au detriment de la famille elargie. La solidarite familiale joue toujours son role au travers de la reserve successorale des enfants ou de creances alimentaires dont peuvent eventuellement beneficier les ascendants et les freres et soeurs. Toutefois, le droit nouveau fait une large place a la volonte du de cujus et l'esprit de famille doit necessairement s'…
Literacy Skill Development of Children With Familial Risk for Dyslexia Through Grades 2, 3, and 8
2015
This study followed the development of reading speed, reading accuracy, and spelling in transparent Finnish orthography in children through Grades 2, 3, and 8. We compared 2 groups of children with familial risk for dyslexia—1 group with dyslexia (Dys_FR, n = 35) and 1 group without (NoDys_FR, n = 66) in Grade 2—with a group of children without familial risk for dyslexia (controls, n = 72). The Dys_FR group showed persistent deficiency, especially in reading speed, and, to a minor extent, in reading and spelling accuracy. The Dys_FR children, contrary to the other 2 groups, relied heavily on letter-by-letter decoding in Grades 2 and 3. In children not fulfilling the criteria for dyslexia in…
Dynamics of morphological processing in pre-school children with and without familial risk for dyslexia
2020
Difficulties in phonological processing and speech perception are associated with developmental dyslexia, but there is considerable diversity across people with developmental dyslexia (e.g., dyslexics with and without phonological difficulties). Phonological and morphological awareness are both known to play an important role in reading acquisition. Problems in morpho-phonological information processing could arguably be associated with developmental dyslexia, especially for Finnish, which is a rich morphologically language. We used MEG to study the connection between morpho-phonology in the Finnish language and familial risk for developmental dyslexia. We measured event-related fields (ERF…