Tillykke, du er optaget. Værsgo’ at tyvstarte!

Der stilles store krav til de nye studerende om effektivitet og overblik fra allerførste dag efter studiestart. Og universitetet har en stor interesse i at yde så god starthjælp som muligt.Artiklen beskriver et førstudiestartskursus, som tilbyder de nyoptagne studerende at gå i studietræning allerede før semestret starter. Der rapporteres fra evalueringen, diskuteresevt. problemer, og gives anbefalinger til de, som måtte ønske at lave noget lignende til andre studier

Mindre fremmøde, større aktivitet, højere kvalitet

Første gang publiceret i UNEV nr. 6: Organisering af e-læring, oktober - december 2005, red. Jørgen Gomme, Birgitte heiberg, Jens Dørup og Ambrosia Hansen. ISSN 1603-5518.- introduktion af IT-støttede undervisningsformer i en masteruddannelse. Baggrund, teori og praktiske erfaringer.Nærværende artikel redegør for et udviklingsprojekt, hvor model og værktøjskasse er anvendt i praksis: Vi har analyseret og foreslået ændringer til en uddannelse, og uddannelsens studieleder og undervisere har implementeret og evalueret.Underviserne og studielederen har haft lejlighed til at se artiklen igennem - men perspektivet i artiklen er vores, og det samme gælder ansvaret for fremstillingen af de praktiske erfaringer, herunder tolkningen af evalueringsresultaterne

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

AbstractMicrocephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RNU4ATAC gene resulting in impaired function of the minor spliceosome. Here, we present the first report on bone morphology, bone density and bone microstructure in two adult MOPD1 patients and applied radiographs, dual energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography and biochemical evaluation.The MOPD1 patients presented with short stature, low BMI but normal macroscopic bone configuration. Bone mineral density was low. Compared to Danish reference data, total bone area, cortical bone area, cortical thickness, total bone density, cortical bone density, trabecular bone density and trabecular bone volume per tissue volume (BV/TV) were all low. These findings may correlate to the short stature and low body weight of the MOPD1 patients. Our findings suggest that minor spliceosome malfunction may be associated with altered bone modelling

Tillykke, du er optaget. Værsgo’ at tyvstarte!

Der stilles store krav til de nye studerende om effektivitet og overblik fra allerførste dag efter studiestart. Og universitetet har en stor interesse i at yde så god starthjælp som muligt.Artiklen beskriver et førstudiestartskursus, som tilbyder de nyoptagne studerende at gå i studietræning allerede før semestret starter. Der rapporteres fra evalueringen, diskuteresevt. problemer, og gives anbefalinger til de, som måtte ønske at lave noget lignende til andre studier

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in visceral organs. HHT is predominantly caused by mutations in ENG and ACVRL1, which both belong to the TGF-β signalling pathway. The exact mechanism of how haploinsufficiency of ENG and ACVRL1 leads to HHT manifestations remains to be identified. As long non-coding RNAs (lncRNAs) are increasingly recognized as key regulators of gene expression and constitute a sizable fraction of the human transcriptome, we wanted to assess whether lncRNAs play a role in the molecular pathogenesis of HHT manifestations. By microarray technology, we profiled lncRNA transcripts from HHT nasal telangiectasial and non-telangiectasial tissue using a paired design. The microarray probes were annotated using the GENCODE v.16 dataset, identifying 4,810 probes mapping to 2,811 lncRNAs. Comparing HHT telangiectasial tissue with HHT non-telangiectasial tissue, we identified 42 lncRNAs that are differentially expressed (q<0.001). Using GREAT, a tool that assumes cis-regulation, we showed that differently expressed lncRNAs are enriched for genomic loci involved in key pathways concerning HHT. Our study identified lncRNAs that are aberrantly expressed in HHT telangiectasia and indicates that lncRNAs may contribute to regulate protein-coding loci in HHT. These results suggest that the lncRNA component of the transcriptome deserves more attention in HHT. A deeper understanding of lncRNAs and their role in telangiectasia formation possesses potential for discovering therapeutic targets in HHT

Gene ontology (GO) analysis of 617 genomic regions (826 genes) located nearby differentially expressed long non-coding RNAs in the HHT1 group.

<p>Gene ontology (GO) analysis of 617 genomic regions (826 genes) located nearby differentially expressed long non-coding RNAs in the HHT1 group.</p

Manhattan plots.

<p>Manhattan plots showing significance of correlation between the three top statistically significantly differentially expressed long non-coding RNAs' (lncRNAs) expression and expression of all other genes at the microarray. The negative logarithm (-log₁₀) p-values of the Pearson correlation were plotted across chromosomes. The Bonferoni-corrected significance level is indicated by the dashed line (p<0.05). a. ENSG00000249772.1 (Chromosome 5) has 144 statistically significantly correlated transcripts, of which 62.5% are other lncRNAs. b. ENSG00000230544.1 (Chromosome 13) has 178 statistically significantly correlated transcripts, of which 61% are other lncRNAs. c. ENSG00000215231.3 (Chromosome 5) has 158 statistically significantly correlated transcripts, of which 63% are other lncRNAs. For comparison, only 11% of the probes across the microarray map to lncRNAs.</p