4,199 research outputs found
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome)
No full textDeletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is
characterized by congenital heart defect (CHD), palatal anomalies, facial
dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning
disabilities. CHD is present in 75% of patients with Del22. The most frequently seen
cardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF),
pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA),
interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the
specific “cardiac phenotype” in patients with Del22 shows that a particular cardiac
anatomy can be identied in these subjects. In addition to CHD, various organ
systems can be involved, so that a multidisciplinary approach is needed in the
evaluation of patients with Del22.peer-reviewe
Structure and expression of a novel gene family showing male germline specific expression in Drosophila melanogaster.
No full textWe report the characterization of two novel genes of Drosophila melanogaster, named mst36Fa and mst36Fb. They define a novel gene family, showing identical time and tissue-specificity limited to male germ cells where their transcription starts during meiotic prophase. These two genes encode for two slightly basic proteins highly homologous to each other and fairly rich in leucine and glutamic acid. Although strictly clustered, these genes utilize different promoter regions as revealed by examination of transgenic flies bearing mst36F-promoter-lacZ reporter constructs and by reverse transcription-polymerase chain reaction assays. Our data suggest that at least one gene (mst36Fa) of the cluster is under translational repression until spermiogenesis suggesting a putative role in the spermatides differentiation. The present study is aimed at the structural analysis of these genes
Isrogrogidda Falka Af-soomaaliga: Aragti ku aadan Midaynta Qoraalkiisa
No full textQoraagu wuxuu diraasad ku sameeyey sidii loo midayn lahaa af Soomaaliga qoraaal ahaan loo adeegsada. Gaar ahaan wuxuu diiradda saarayaa sidii loo midayn lahaa qaababka isrogrogga falalka oo haatan loo adeegsado siyaabo aan midaysanayn.In questo articolo, l'autore analizza e avanza una proposta relativamente alla standardizzazione del somalo scritto, in particolar modo delle forme di coniugazione dei verbi somali che attualmente non sono scritte in modo omogenea.In this article, the author analyzes and provides a proposal about the standardization of written Somali, in particular relating to verb conjugation forms whose orthography still differs today.Cabdirashid M. Ismaaciil, Cabdalla C. Mansuur, Saynab A. Sharci (eds.
Coastal Research and its Economic Justification
No full textProper and thorough planning of coastal engineering projects is discussed and the economie justification of research work indicated. Examples are given concerning navigational problems, coastal protection problems, and harbor sediment problems.KWP-collectio
Midaynta iyo Horumarinta Af-soomaaliga
No full textQoraagu wuxuu maqaalkan ku falanqaynayaa arrimo ku saabsan midaynta af Soomaaliga qoran, oo dadka qaarkood ay ku doodaan in ay dhibaato ka taagantahay, iyagoo u aanaynaya kala duwanaanta lahjadaha Soomaaliyeed iyo farta af Soomaaliga oo aan xasillayn. Qoraha oo soo bandhigayaa in arrimahaasu aanu sax ahayn, wuxuuna muujinayaa caqabadaha dhabta ah ee hortaagan houmarinta af Soomaaliga: afku wuxuu la'yahay dawlad si rasmi ah u adeegsato, weerar ba'anna waxaa ku haya af Ingiriisiga, xagga ereyadana nabaadguur xooggan ayaa ku dhacaya, gaar ahaan ereyada la xiriira dhaqanka Soomaaliyeed.L'autore, in questo articolo, analizzando la questione della lingua somala scritta, cerca di illustrare che la situazione del somalo standard non è cosi problematica come a detta di alcuni somali, specialmente, nell'ortografia e nella differenza tra i dialetti, ma il problema somalo è bensì riscontrabile in altri fattori: la mancanza di un stato che continui ad adottare il somalo come lingua ufficiale, l'estinzione di tantissimi vocaboli in disuso, nonché la forte influenza dalla lingua inglese.The author in this article, in analysing the written somali language, wants to show the somali standard situation is not so bad, like some Somalis say, especially in orthography and in vernaculars difference. In spite of, the somali language problem is recognisable in some others factors: lack of state that usually chooses somali language as official language, extinction of many terms in disuse and also the strong influence of English.Cabdirashid M. Ismaaciil, Cabdalla C. Mansuur, Saynab A. Sharci (eds.
Om inloppet ifrån Östersjön : till SöderTelje eller Egelsta wiken
No full textAuthor: Nathanael Gerhard af Schultén.Dated: "Carlberg den 12 Januari 1806."Digital reproduction, The National Library of Finland, Centre for Preservation and Digitisation, MikkeliA description of the Baltic Sea.TravelEuropeanaSchultén, Nathanael Gerhard af (1750-1825
Dwing als gebiedsontwikkelaar een duidelijke opdracht af
No full textTerwijl de context waarin gebiedsontwikkelaars werken alleen maar complexer wordt, ziet Co Verdaas, hoogleraar gebiedsontwikkeling, een aanhoudende neiging om keuzes vooruit te schuiven of te verhullen. Hij geeft zes tips om gebiedsontwikkelaars in hun kracht te zetten. “Zonder escalatie geen resultaat zou het devies moeten zijn.”Practice Chair Urban Area Developmen
Simple risk model predicts incidence of atrial fibrillation in a racially and geographically diverse population: the CHARGE-AF consortium
No full textFull author list omitted for brevity. For the full list of authors, see article.BACKGROUND: Tools for the prediction of atrial fibrillation (AF) may identify high-risk individuals more likely to benefit from preventive interventions and serve as a benchmark to test novel putative risk factors. METHODS AND RESULTS: Individual-level data from 3 large cohorts in the United States (Atherosclerosis Risk in Communities [ARIC] study, the Cardiovascular Health Study [CHS], and the Framingham Heart Study [FHS]), including 18 556 men and women aged 46 to 94 years (19% African Americans, 81% whites) were pooled to derive predictive models for AF using clinical variables. Validation of the derived models was performed in 7672 participants from the Age, Gene and Environment-Reykjavik study (AGES) and the Rotterdam Study (RS). The analysis included 1186 incident AF cases in the derivation cohorts and 585 in the validation cohorts. A simple 5-year predictive model including the variables age, race, height, weight, systolic and diastolic blood pressure, current smoking, use of antihypertensive medication, diabetes, and history of myocardial infarction and heart failure had good discrimination (C-statistic, 0.765; 95% CI, 0.748 to 0.781). Addition of variables from the electrocardiogram did not improve the overall model discrimination (C-statistic, 0.767; 95% CI, 0.750 to 0.783; categorical net reclassification improvement, -0.0032; 95% CI, -0.0178 to 0.0113). In the validation cohorts, discrimination was acceptable (AGES C-statistic, 0.664; 95% CI, 0.632 to 0.697 and RS C-statistic, 0.705; 95% CI, 0.664 to 0.747) and calibration was adequate. CONCLUSION: A risk model including variables readily available in primary care settings adequately predicted AF in diverse populations from the United States and Europe
First Maltese record of Stephanopachys quadricollis (Marseul, 1879) (Coleoptera, Bostrichidae)
No full textThree specimens of Stephanopachys quadricollis (Marseul, 1878) were recently found in Malta in UV light
traps and represent the first record of this species for this country. Although S. quadricollis is native to
the Mediterranean basin, it is not yet clear if these Maltese records are due to a natural population or to
an interception. Distributional, nomenclatural and biological data on this species are summarized, and a
new synonymy is established: Stephanopachys quadricollis (Marseul, 1879) = Stephanopachys quadraticollis
Kocher, 1956, syn. n.peer-reviewe
Picture This: The Art and Business of Children's Books
No full textThe FIT Library presented "Love Your Library -- Picture This: The Art and Business of Children's Books" on Wednesday, Dec. 7th, 2016. William Low (FIT prof., painter, illustrator), Liz Starin (FIT alum and children's book illustrator) and Colleen AF Venable (author and Art Director for Workman Publishing) discussed their background, inspiration, technique, and tricks of the trade. Moderated by Leslie Preston
- …
