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The aim of this study was to explore the genetic basis of non-syndromic tooth agenesis (TA) in a Chinese family of five individuals using whole-exome sequencing (WES) analysis.
Five participants/Family-based study of a non-syndromic TA proband.
The proband, proband's mother and grandmother displayed congenital tooth deficiency. Genomic DNA was extracted from the peripheral blood or saliva samples of the proband, her parents and her grandmother, and WES was utilized to identify the causal genetic mutation. The identified mutation was further verified by Sanger sequencing and analysed using bioinformatics tools.
A novel missense mutation, c.G711T (p.L237F), was identified in the low-density lipoprotein receptor-related protein 6 (LRP6) gene in all affected individuals. Bioinformatics analysis predicted the mutation to be deleterious, with the mutant LRP6 protein displaying a tertiary structural change that might disturb the Wnt/β-catenin signalling pathway.
The identification of the mutation in the LRP6 gene and autosomal dominant inheritance with TA in the generations is consistent with the mutation being responsible for TA in the family, and furthers the association of LRP6 with nonsyndromic TA.
The identification of the mutation in the LRP6 gene and autosomal dominant inheritance with TA in the generations is consistent with the mutation being responsible for TA in the family, and furthers the association of LRP6 with nonsyndromic TA.Wavefront-shaping (WS) enables imaging through scattering tissues like bone, which is important for neuroscience and bone-regeneration research. WS corrects for the optical aberrations at a given depth and field-of-view (FOV) within the sample; the extent of the validity of which is limited to a region known as the isoplanatic patch (IP). Knowing this parameter helps to estimate the number of corrections needed for WS imaging over a given FOV. In this paper, we first present direct transmissive measurement of murine skull IP using digital optical phase conjugation based focusing. Second, we extend our previously reported phase accumulation ray tracing (PART) method to provide in-situ in-silico estimation of IP, called correlative PART (cPART). Our results show an IP range of 1 to 3 μm for mice within an age range of 8 to 14 days old and 1.00 ± 0.25 μm in a 12-week old adult skull. Consistency between the two measurement approaches indicates that cPART can be used to approximate the IP before a WS experiment, which can be used to calculate the number of corrections required within a given field of view.Whole slide imaging (WSI) has moved digital pathology closer to diagnostic practice in recent years. Due to the inherent tissue topography variability, accurate autofocusing remains a critical challenge for WSI and automated microscopy systems. The traditional focus map surveying method is limited in its ability to acquire a high degree of focus points while still maintaining high throughput. Real-time approaches decouple image acquisition from focusing, thus allowing for rapid scanning while maintaining continuous accurate focus. This work reviews the traditional focus map approach and discusses the choice of focus measure for focal plane determination. It also discusses various real-time autofocusing approaches including reflective-based triangulation, confocal pinhole detection, low-coherence interferometry, tilted sensor approach, independent dual sensor scanning, beam splitter array, phase detection, dual-LED illumination and deep-learning approaches. The technical concepts, merits and limitations of these methods are explained and compared to those of a traditional WSI system. This review may provide new insights for the development of high-throughput automated microscopy imaging systems that can be made broadly available and utilizable without loss of capacity.The comment by Sánchez-Tójar et al. (2020, Ecol Lett) questioned the methodology, transparency and conclusion of our study (Ecol Lett, 22, 2019, 1976). The comment has overlooked important evolutionary assumptions in their reanalysis, and the issues raised were in fact dealt with through the peer-review process. Far from being biased, the key conclusion of our meta-analysis still stands; transgenerational effects are largely adaptive.
The literature suggests that feedback is wanted and needed in clinical medicine and specifically on ward rounds, yet it is often lacking. This study aimed to examine junior doctor perceptions of education and feedback on ward rounds in one clinical department at a tertiary paediatric hospital and the key influences on these perceptions.
Six semi-structured focus groups were conducted over a period of 9 months comprising of 20 participants (post-graduate year 1-5) in a general medical department of a tertiary paediatric hospital. Qualitative analysis was performed on focus group transcripts using an inductive approach and codes and themes were generated in an iterative fashion with checking of themes between two researchers.
Feedback experiences were largely positive compared to previous rotations. Three overarching themes were identified which influenced trainee perceptions of education and feedback on ward rounds. These were consultant influences (e.g. educational engagement), trainee influences (e.g. active seeking of feedback), and structural factors (e.g. organisational constraints).
Despite positive feedback experiences, the need to improve feedback for our junior doctors is clear, but how to do this remains challenging when navigating work-learning tensions. selleck products The notion of the educational alliance between the consultant and trainee is a potential useful solution, but it requires deliberate effort and dedicated time to establish given our increasingly complex and busy clinical environments.
Despite positive feedback experiences, the need to improve feedback for our junior doctors is clear, but how to do this remains challenging when navigating work-learning tensions. The notion of the educational alliance between the consultant and trainee is a potential useful solution, but it requires deliberate effort and dedicated time to establish given our increasingly complex and busy clinical environments.
Here's my website: https://www.selleckchem.com/
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