Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form of OI. Genotyping only five affected dogs on the 50 k canine SNP chip allowed us to localize the causative mutation to a 5.82 Mb interval on chromosome 21 by homozygosity mapping. Haplotype analysis of five additional carriers narrowed the interval further down to 4.74 Mb. The SERPINH1 gene is located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix. Therefore, we considered SERPINH1 a positional and functional candidate gene and performed mutation analysis in affected and control Dachshunds. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. We thus have identified a candidate causative mutation for OI in Dachshunds and identified a fifth OI gene.
Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found within the Texel breed. It is characterized by extremely small or absent eyes and affected lambs are absolutely blind. For the first time, we use a genome-wide ovine SNP array for positional cloning of a Mendelian trait in sheep. Genotyping 23 cases and 23 controls using Illumina's OvineSNP50 BeadChip allowed us to localize the causative mutation for microphthalmia to a 2.4 Mb interval on sheep chromosome 22 by association and homozygosity mapping. The PITX3 gene is located within this interval and encodes a homeodomain-containing transcription factor involved in vertebrate lens formation. An abnormal development of the lens vesicle was shown to be the primary event in ovine microphthalmia. Therefore, we considered PITX3 a positional and functional candidate gene. An ovine BAC clone was sequenced, and after full-length cDNA cloning the PITX3 gene was annotated. Here we show that the ovine microphthalmia phenotype is perfectly associated with a missense mutation (c.338G>C, p.R113P) in the evolutionary conserved homeodomain of PITX3. Selection against this candidate causative mutation can now be used to eliminate microphthalmia from Texel sheep in production systems. Furthermore, the identification of a naturally occurring PITX3 mutation offers the opportunity to use the Texel as a genetically characterized large animal model for human microphthalmia.
BackgroundGenetic and epidemiologic evidence suggests that in horses, as in other species, different manifestations of hypersensitivity may occur together.HypothesisHorses affected with insect bite hypersensitivity (IBH) show airway hyperreactivity (AH) to inhaled histamine, even in the absence of overt clinical signs of equine asthma (EA).AnimalsTwenty‐two healthy controls (group C), 24 horses suffering from IBH alone (group IBH), and 23 horses suffering from IBH and EA (group IBH/EA).MethodsThe clinical histories were assessed using 2 standardized questionnaires, the Horse Owner Assessed Respiratory Signs Index (HOARSI), and IBH scoring. Horses were classified as EA‐affected if their HOARSI was >1 and as IBH‐affected if IBH score was >0. Confounding disorders were excluded by clinical examination. The arterial partial pressure of oxygen (PaO2) was measured and flowmetric plethysmography used to assess airway reactivity to increasing doses of inhaled histamine.ResultsThe median histamine provocation concentration (PC) when ∆flow values increased by 35% (PC35) was significantly higher in group C (5.94 [1.11–26.33] mg/mL) compared to group IBH (2.95 [0.23–10.13] mg/mL) and group IBH/EA (2.03 [0.43–10.94] mg/mL; P < 0.01). The PC50 and PC75 showed very similar differences between groups. Furthermore, PaO2 was significantly lower in group IBH (84 ± 8 mmHg) and group IBH/EA (78 ± 11 mmHg) compared to group C (89 ± 6 mmHg; P < 0.01).Conclusions and Clinical Importance IBH is associated with AH and decreased PaO2, even in the absence of overt respiratory clinical signs.
In an experiment, effects of commercials that are either shown within a TV program or embedded in YouTube videos were compared. These two media environments have not yet been compared empirically in terms of their advertising impact. A within-subjects design and a multi-method approach were used ( N = 36). Eye tracking data show that more attention is allocated to advertisements that appear within a TV program compared to the YouTube-condition and the viewing experience elicited more positive emotions in the TV-condition. Two days after reception, no difference in recognition, likeability, and purchase intention occurred, but in terms of implicit long-term memory: In the TV condition, brands that were previously advertised but no longer remembered elicited stronger skin conductance change than brands for which no advertisements had previously been shown. In terms of advertising impact, TV seems to still be the better choice for advertisers. Presentation mode should be considered in future evaluation of advertisement potential.
During an animal welfare campaign on the Islands of Cape Verde (in the capital Praia on the island of Santiago) a total of 57 dogs were examined for ectoparasites and blood parasites. 84% of the animals were infested with arthropods, mostly ticks. Haemotropic parasites were examined via blood smear, polymerase chain reaction (PCR) and/or serology. 23 dogs had single infections, five multiple infections with haemoparasites. In eight dogs Ehrlichia canis and in one Amaplasma phagocytophilum were detected by PCR, while 43.1% and 36.2% respectively were serologically positive. In 23 blood smears Babesia gibsoni, but no Babesia canis could be detected. In four cases Hepatozoon canis was found in the smears. All animals were negative for Dirofilaria larvae or antibodies against Leishmania. Arthropod-infested animals more frequently harboured babesiae (44%), ehrlichiae (19%) or H. canis (8%) compared to non-infested animals (20%, 0%, 0%). In bitches and dogs aged one year or less babesiae were more frequently detected (48% of the bitches and 13% of the male dogs; 45% of animals less than one year and 26% of the older ones). Due to the high infection rates the import of animals from Cabo Verde to Central Europe must be seen as critical, since an endemisation of (sub-)tropical infectious agents cannot be excluded.
Vier der im Zuge der U-Bahn-Erweiterung der Linie U2 in Wien im Jahr 2008 neu eröffneten Stationen decken einen Großteil ihres Heiz- und Kühlbedarfs seit beinahe eineinhalb Jahrzehnten aus geothermischer Energie, welche durch Massivabsorber in Form von Energieschlitzwänden, Energiepfählen und Energiebodenplatten der Stationsgebäude gewonnen wird. Da es sich zum Zeitpunkt der Errichtung weltweit um das erste Infrastrukturbauwerk dieser Art und Dimension handelte, wurde ein Schlitzwandelement der Station Taborstraße mit zahlreichen Messsensoren ausgestattet, um Datensätze des thermo-mechanischen Langzeitverhaltens dieser Bauteile zu generieren. Kontinuierliche Messungen mit automatischer Datenaufzeichnung erfolgten zunächst von April 2008 bis Mai 2011. Im Oktober 2020 wurden die Messungen mit der bestehenden Sensorik wieder aufgenommen, wobei die Messungen manuell im Monatsrhythmus erfolgen, um einen langfristigen Vergleich der Messdaten zu ermöglichen sowie eine Beurteilungsgrundlage von Auswirkungen des geothermischen Betriebs auf die konstruktiven Bauteile zu schaffen. Der vorliegende Beitrag gibt einen Überblick über die Station Taborstraße mit Fokus auf die thermisch aktivierten Bauteile und deren Instrumentierung. Ein Vergleich der messtechnisch erfassten genutzten Energie mit dem prognostizierten Wärme- und Kältebedarf wird im Zusammenhang mit den Energiedaten diskutiert. Darüber hinaus wird das Temperatur- und Dehnungsverhalten der beobachteten Energieschlitzwand anhand der über einen Zeitraum von rund 14 Betriebsjahren erhobenen Messdaten beschrieben.
Thermisch aktivierte Gründungselemente bieten die Möglichkeit, statisch konstruktiv erforderliche Bauteile aus Stahlbeton synergetisch zur Energiegewinnung zu nutzen. Diese sogenannten Massivabsorber können bei Infrastrukturbauwerken aufgrund der ohnehin in großer Zahl erforderlichen Gründungselemente vor allem im urbanen Raum einen Beitrag zur Erreichung der Dekarbonisierung des Gebäudesektors beitragen. Im Baulos LT24 – Hadersdorf-Weidlingau des Lainzer Tunnels in Wien wurden Großbohrpfähle einer Bohrpfahlwand thermisch aktiviert, um ein angrenzendes Schulgebäude mit Erdwärme zum Heizen zu versorgen. Der vorliegende Beitrag gibt einen Überblick über die geothermische Versuchsanlage mit Fokus auf die aktivierte Bohrpfahlwand und die umfassende Instrumentierung der Anlage und der Energiepfähle. Das thermo-mechanische Verhalten wird mithilfe der vorhandenen Messdaten aus 19 Betriebsjahren analysiert, wobei die Leistungs- und Energiedaten der gesamten Anlage, die Temperaturverteilung in der Energiewand und die Dehnungen eines ausgewählten Energiepfahls diskutiert werden.
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