Retrieving Peromyscus bullatus from P. difficilis (Rodentia: Cricetidae) through cranial morphometry in a mammal collection

Peromyscus bullatus and Peromyscus difficilis are sympatric and phenotypically similar rodents. Because of this, misidentification of both species is frequent in the field and in mammal collections. In this study, P. bullatus specimens were retrieved from the P. difficilis specimens, in the mammal collection of the Instituto de Investigaciones Biológicas of the Universidad Veracruzana, through the analysis of morphometric measurements of the tympanic bulla, proposed by González-Ruíz et al. (2005) as discrimination key variables between both species.La identificación errónea de ejemplares de Peromyscus bullatus como Peromyscus difficilis es frecuente, tanto en el campo como en las colecciones mastozoológicas, debido a que ambas especies son simpátricas y similares fenotípicamente. En este estudio se recuperaron ejemplares de P. bullatus incorrectamente catalogados como P. difficilis en la colección mastozoológica del Instituto de Investigaciones Biológicas de la Universidad Veracruzana, mediante el análisis de medidas morfométricas de la bula timpánica, propuestas por González-Ruíz et al. (2005) como claves para la discriminación entre ambas especies

Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs.

We investigated a hereditary cerebellar ataxia in Belgian Shepherd dogs. Affected dogs developed uncoordinated movements and intention tremor at two weeks of age. The severity of clinical signs was highly variable. Histopathology demonstrated atrophy of the CNS, particularly in the cerebellum. Combined linkage and homozygosity mapping in a family with four affected puppies delineated a 52 Mb critical interval. The comparison of whole genome sequence data of one affected dog to 735 control genomes revealed a private homozygous structural variant in the critical interval, chr4:66,946,539_66,963,863del17,325. This deletion includes the entire protein coding sequence of SELENOP and is predicted to result in complete absence of the encoded selenoprotein P required for selenium transport into the CNS. Genotypes at the deletion showed the expected co-segregation with the phenotype in the investigated family. Total selenium levels in the blood of homozygous mutant puppies of the investigated litter were reduced to about 30% of the value of a homozygous wildtype littermate. Genotyping >600 Belgian Shepherd dogs revealed an additional homozygous mutant dog. This dog also suffered from pronounced ataxia, but reached an age of 10 years. Selenop-/- knock-out mice were reported to develop ataxia, but their histopathological changes were less severe than in the investigated dogs. Our results demonstrate that deletion of the SELENOP gene in dogs cause a defect in selenium transport associated with CNS atrophy and cerebellar ataxia (CACA). The affected dogs represent a valuable spontaneous animal model to gain further insights into the pathophysiological consequences of CNS selenium deficiency

Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues

<p>Abstract</p> <p>Background</p> <p>Brain-expressed genes that were created in primate lineage represent obvious candidates to investigate molecular mechanisms that contributed to neural reorganization and emergence of new behavioural functions in <it>Homo sapiens</it>. <it>PMCHL1 </it>arose from retroposition of a pro-melanin-concentrating hormone (<it>PMCH</it>) antisense mRNA on the ancestral human chromosome 5p14 when platyrrhines and catarrhines diverged. Mutations before divergence of hylobatidae led to creation of new exons and finally <it>PMCHL1 </it>duplicated in an ancestor of hominids to generate <it>PMCHL2 </it>at the human chromosome 5q13. A complex pattern of spliced and unspliced <it>PMCHL </it>RNAs were found in human brain and testis.</p> <p>Results</p> <p>Several novel spliced <it>PMCHL </it>transcripts have been characterized in human testis and fetal brain, identifying an additional exon and novel splice sites. Sequencing of <it>PMCHL </it>genes in several non-human primates allowed to carry out phylogenetic analyses revealing that the initial retroposition event took place within an intron of the <it>brain cadherin </it>(<it>CDH12</it>) gene, soon after platyrrhine/catarrhine divergence, i.e. 30–35 Mya, and was concomitant with the insertion of an AluSg element. Sequence analysis of the spliced <it>PMCHL </it>transcripts identified only short ORFs of less than 300 bp, with low (VMCH-p8 and protein variants) or no evolutionary conservation. Western blot analyses of human and macaque tissues expressing <it>PMCHL </it>RNA failed to reveal any protein corresponding to VMCH-p8 and protein variants encoded by spliced transcripts.</p> <p>Conclusion</p> <p>Our present results improve our knowledge of the gene structure and the evolutionary history of the primate-specific chimeric <it>PMCHL </it>genes. These genes produce multiple spliced transcripts, bearing short, non-conserved and apparently non-translated ORFs that may function as mRNA-like non-coding RNAs.</p

Qualitätskriterien zum Einsatz von Moulagen an OSCE-Prüfungen

Hintergrund: Im Medizinstudium an der Universität Bern und in der eidgenössischen Prüfung in der Schweiz wird das Beherrschen klinischer Fertigkeiten mit Simulationspatienten*innen (SP) im OSCE-Format geprüft. Zwar können SP verschiedene Untersuchungsbefunde (Schmerzäusserungen, Lähmungen) simulieren, andere wie z.B. Hautbefunde jedoch nicht. Bisher werden solche Befunde als Foto präsentiert, schriftlich oder mündlich mitgeteilt. Dabei kommt es zu einem Medienwechsel, welcher bei der Konzentration und Immersion in das Rollenspiel stört. Deswegen setzen wir seit 2011 Moulagen ein, welche Make-Up, Silikon und andere Materialen umfassen, um Krankheiten und Verletzungen direkt darzustellen. Ziel dieses Beitrages ist, die Qualitätskriterien von Moulagen im Assessment zu diskutieren. Fragestellung: Steigt die Akzeptanz aller Beteiligten bei der OSCE-Prüfung mit dem Grad der Einhaltung dieser Kriterien? Methode: Wir werden verschiedene Moulage-Techniken (Make-up und 3D-Transfer-Tattoo) bei einem OSCE im April ’17 einsetzen und die Moulagen nach folgenden Qualitätsmerkmalen mittels eines Questionnaires durch SP, SP-Trainer*innen und Expert*innen beurteilen lassen: 1. Korrekte Darstellung der Befunde, optisch/ haptisch 2. Standardisierung 3. Verträglichkeit 4. Haltbarkeit 5. Effektivität und Effizienz der Applikation (mit entsprechender Videodokumentation) Dies korrelieren wir mit der allgemeinen Akzeptanz der Moulagen durch die genannten Personengruppen. Ergebnisse: Die Ergebnisse der Umfrage werden auf der Tagung präsentiert. Diskussion: Die Kriterien basieren auf Erfahrungen bei OSCE an der Universität Bern. Je nach Anspruch und Setting könnten weitere Kriterien von Bedeutung sein, die wir laufend versuchen zu identifizieren. Die Evidenzlage zu Moulagen im Prüfungssetting ist noch unbefriedigend und bedarf weiterer Forschung, für die wir in Kooperationen gerne zur Verfügung stehen

What kind of heat loss requirements NZEB and deep renovation sets for building envelope?

In most of countries the energy performance of buildings is defined as (primary) energy use of whole buildingâ s (heating, cooling, ventilation, DHW, lighting, HVAC auxiliary, appliances), not as specific requirements for building envelope. For construction companies of production of modular renovation panels it in necessary to know heat loss properties of building envelope (U, W/(m2â K); ï , W/(mâ K); ï £, W/K; q50, m3/(hâ m2)). In this study it is analyzed what kind of heat loss requirements exists for building envelope to meet on annual basis to following targets: nZEB i.e. national nearly zero energy definition; deep energy renovation with 80 % reduction of primary energy; ZEB i.e. net Zero Energy Building = the annual primary energy use = 0 kWh/(m² a). Indoor climate and energy calculations were made based on national energy calculation methodologies in six countries: Denmark, Estonia, Latvia, Czech Republic, Portugal, and Netherlands. Requirements for heat loss of building envelope vary depending on requirements on indoor climate and energy performance in specific country, outdoor climate, availability of renewable energy, and building typology. The thermal transmittance of the modular wall panels for nZEB was â 5% from pre renovation thermal transmittance in Latvia, â 10% in Estonia and up to 50% in Portugal. For roof the decrease of thermal transmittance was smaller mainly due to smaller thermal transmittance before renovation. Results show the difficulties to reach ZEB with multi-story apartment buildings in cold climate. There are not enough places to install renewables for energy production on site.The study has been conducted in the projects H2020 MoreConnect, TK146 the Estonian Centre of Excellence in Zero Energy and Resource Efficient Smart Buildings and Districts, ZEBE, IUT1−15 Nearly-zero energy solutions and their implementation on deep renovation of buildings

Immunoglobulin-Based Investigation of Spontaneous Resolution of Chlamydia trachomatis Infection

Chlamydia trachomatis elementary body enzyme-linked immunosorbent assay (ELISA) was used to investigate serum anti-CT immunoglobulin G1 (IgG1; long-lived response) and immunoglobulin G3 (IgG3; short-lived response indicating more recent infection) from treatment (enrollment) and 6-month follow-up visits in 77 women previously classified as having spontaneous resolution of chlamydia. Of these women, 71.4% were IgG1+IgG3+, consistent with more recent chlamydia resolution. 15.6% were IgG3− at both visits, suggesting absence of recent chlamydia. Using elementary body ELISA, we demonstrated approximately 1 in 6 women classified as having spontaneous resolution of chlamydia might have been exposed to C. trachomatis but not infected. Further, we classified their possible infection stage

Targeted copy number variant identification across the neurodegenerative disease spectrum

Background: Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state remains relatively understudied. Methods: Here, we applied a depth of coverage approach to detect CNVs in 80 genes previously associated with neurodegenerative disease within participants of the Ontario Neurodegenerative Disease Research Initiative (n = 519). Results: In total, we identified and validated four CNVs in the cohort, including: (1) a heterozygous deletion of exon 5 in OPTN in an Alzheimer\u27s disease participant; (2) a duplication of exons 1–5 in PARK7 in an amyotrophic lateral sclerosis participant; (3) a duplication of \u3e3 Mb, which encompassed ABCC6, in a cerebrovascular disease (CVD) participant; and (4) a duplication of exons 7–11 in SAMHD1 in a mild cognitive impairment participant. We also identified 43 additional CNVs that may be candidates for future replication studies. Conclusion: The identification of the CNVs suggests a portion of the apparent missing heritability of the phenotypes may be due to these structural variants, and their assessment is imperative for a thorough understanding of the genetic spectrum of neurodegeneration