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Owen Gravgaard posted an update 6 months ago
Korthalsia laciniosa (Griff.) Mart. is a climbing rattan used as a source of durable and flexible cane. In the present study, the draft genome of K. laciniosa was sequenced, de novo assembled and annotated. Genome-wide identification of MADS-Box transcription factors revealed loss of Mβ, and Mγ genes belonging to Type I subclass in the rattan lineage. Mining of the genome revealed presence of 13 families of lignin biosynthetic pathway genes and expression profiling of nine major genes documented relatively lower level of expression in cirrus when compared to leaflet and petiole. The chloroplast genome was re-constructed and analysis revealed the phylogenetic relatedness of this genus to Eugeissona, in contrast with its present taxonomic position. The genomic resource generated in the present study will accelerate population structure analysis, genetic resource conservation, phylogenomics and facilitate understanding the unique developmental processes like gender expression at molecular level.Non-canonical intronic variants are a poorly characterized yet highly prevalent class of alterations associated with Mendelian disorders. Here, we report the first RNA expression and splicing analysis from a family whose members carry a non-canonical splice variant in an intron of RPL11 (c.396 +3A>G). This mutation is causative for Diamond Blackfan Anemia (DBA) in this family despite incomplete penetrance and variable expressivity. Our analyses revealed a complex pattern of disruptions with many novel junctions of RPL11. These include an RPL11 transcript that is translated with a late stop codon in the 3′ untranslated region (3’UTR) of the main isoform. We observed that RPL11 transcript abundance is comparable among carriers regardless of symptom severity. Interestingly, both the small and large ribosomal subunit transcripts were significantly overexpressed in individuals with a history of anemia in addition to congenital abnormalities. Finally, we discovered that coordinated expression between mitochondrial components and RPL11 was lost in all carriers, which may lead to variable expressivity. Overall, this study highlights the importance of RNA splicing and expression analyses in families for molecular characterization of Mendelian diseases.
Intraosseous (IO)-access plays an alternative route during resuscitation. Our study in preterm and term stillborns was performed to find alternative IO puncture sites beside the recommended proximal tibia.
The cadavers used were legal donations. 20 stillborns (mean 29.2weeks, IQR 27.1-39.6) were investigated. Spectral-CT were analysed to calculate the diameter and circumferences of i) proximal humerus ii) distal femur iii) proximal tibia iv) diaphyseal tibial. Contrast medium was applied under video documentation to investigate the drainage into the vascular system.
In term newborns, diameter of the cortex of the proximal humeral head is 12.1 ± 1.8 mm, distal end of the femur 11.9 ± 3.4 mm and the proximal tibial bone 12.0 ± 2.4 mm with cross-sectional diameter of 113.5 ± 19.7 mm
, 120.6 ± 28.2 mm
and 111.6 ± 29.5 mm
, respectively. Regarding the preterm groups, there is a strong age-related growth in diameter and cross -sectional size. The diaphyseal area is the smallest in all measured bones with an age-dependent increase and is about half of that of metaphyseal diameters (proximal and distal) and about one third of that of metaphyseal cross sectional areas. The proximal femoral head region has the largest diameter of all measured bones with an egg-shaped formation with an extensive joint capsula. All investigated metaphyseal areas lack a clearly enclosed bone marrow cavity. Infusion of contrast medium into the distal femoral end and the proximal humerus head demonstrate the drainage of contrast medium into the central venous system within seconds.
Proximal humeral head and distal femoral end might be alternative IO areas which may lead to further IO puncture sites in neonates.
Proximal humeral head and distal femoral end might be alternative IO areas which may lead to further IO puncture sites in neonates.Posttraumatic stress disorder (PTSD) is a devastating medical illness, for which currently available pharmacotherapies have poor efficacy. Accumulating evidence from clinical and preclinical animal investigations supports that ketamine exhibits a rapid and persistent effect against PTSD, though the underlying molecular mechanism remains to be clarified. In this literature review, we recapitulate the achievements from early ketamine studies to the most up-to-date discoveries, with an effort to discuss an inclusive therapeutic role of ketamine for PTSD treatment and its possible therapeutic mechanism. Ketamine seems to have an inimitable mechanism of action entailing glutamate modulation via actions at the N-methyl-D-aspartate (NMDA) and α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors, as well as downstream activation of brain-derived neurotrophic factor (BDNF) and mechanistic target of rapamycin (mTOR) signaling pathways to potentiate synaptic plasticity.Many substances are already tested in the long-term rodent bioassay (RCB). Nonetheless, statements such as the following are common in the regulatory literature “the significance of the carcinogenicity findings in rodents relative to the therapeutic use of drugs in humans is unknown.” (U.S. LY3214996 price FDA prescribing information for nitrofurantoin). In the absence of epidemiological data, chemicals carcinogenic in RCBs are typically classified as either possibly or probably carcinogenic to humans, particularly without the -numerical probability for the carcinogenicity to humans- (PPV) of the classified substance. Through the biostatistics-based and regulatorily pertinent -predictive values approach- (PVA), the present study investigated the PPV of several antimicrobials relevant to human or veterinary medicine. A combination of structure-activity relationship, mutagenicity, and tumor-related histopathology was used to resolve reliable and pertinent PPVs. For 62 specific antimicrobials (e.g., carbadox), a 97.9% (or more) probability of carcinogenicity to humans was estimated.
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