Background: Congenital Muscular Torticollis (CMT) is the third most common musculoskeletal condition in infancy, and if untreated can lead to significant disability. While a range of conservative treatments are commonly used in the management of CMT, an understanding of their efficacy and safety is limited. This systematic review and meta-analysis, without language or discipline restriction, was conducted to address this knowledge gap.
View Article and Find Full Text PDFNewly diagnosed prostate cancers differ dramatically in mutational composition and lethality. The most accurate clinical predictor of lethality is tumor tissue architecture, quantified as tumor grade. To interrogate the evolutionary origins of prostate cancer heterogeneity, we analyzed 666 prostate tumor whole genomes.
View Article and Find Full Text PDFGenomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.
View Article and Find Full Text PDFBackground: One difficulty in testing the hypothesis that the Australasian dingo is a functional intermediate between wild wolves and domesticated breed dogs is that there is no reference specimen. Here we link a high-quality de novo long-read chromosomal assembly with epigenetic footprints and morphology to describe the Alpine dingo female named Cooinda. It was critical to establish an Alpine dingo reference because this ecotype occurs throughout coastal eastern Australia where the first drawings and descriptions were completed.
View Article and Find Full Text PDFBackground: One difficulty in testing the hypothesis that the Australasian dingo is a functional intermediate between wild wolves and domesticated breed dogs is that there is no reference specimen. Here we link a high-quality long read chromosomal assembly with epigenetic footprints and morphology to describe the Alpine dingo female named Cooinda. It was critical to establish an Alpine dingo reference because this ecotype occurs throughout coastal eastern Australia where the first drawings and descriptions were completed.
View Article and Find Full Text PDFBackground: African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in sub-Saharan Africa are 2.5-fold greater than global averages.
View Article and Find Full Text PDFProstate cancer is characterized by considerable geo-ethnic disparity. African ancestry is a significant risk factor, with mortality rates across sub-Saharan Africa of 2.7-fold higher than global averages.
View Article and Find Full Text PDFThe impact of aging on intestinal stem cells (ISCs) has not been fully elucidated. In this study, we identified widespread epigenetic and transcriptional alterations in old ISCs. Using a reprogramming algorithm, we identified a set of key transcription factors (Egr1, Irf1, FosB) that drives molecular and functional differences between old and young states.
View Article and Find Full Text PDFDogs are uniquely associated with human dispersal and bring transformational insight into the domestication process. Dingoes represent an intriguing case within canine evolution being geographically isolated for thousands of years. Here, we present a high-quality de novo assembly of a pure dingo (CanFam_DDS).
View Article and Find Full Text PDFWe report the first simulations of nonsolvent-induced phase separation (NIPS) that predict membrane microstructures with graded asymmetric pore size distribution. In NIPS, a polymer solution film is immersed in a nonsolvent bath, enriching the film in nonsolvent, and leading to phase separation that forms a solid polymer-rich membrane matrix and polymer-poor membrane pores. We demonstrate how mass-transfer-induced spinodal decomposition, thermal fluctuations, and glass-transition dynamics-implemented with mobility contrast between the polymer-rich and polymer-poor phases-are essential to the formation of asymmetric membrane microstructures.
View Article and Find Full Text PDFSomatic structural variants are an important contributor to cancer development and evolution. Accurate detection of these complex variants from whole genome sequencing data is influenced by a multitude of parameters. However, there are currently no tools for guiding study design nor are there applications that could predict the performance of somatic structural variant detection.
View Article and Find Full Text PDFEpidermal growth factor (EGF) maintains intestinal stem cell (ISC) proliferation and is a key component of organoid growth media yet is dispensable for intestinal homeostasis, suggesting roles for multiple EGF family ligands in ISC function. Here, we identified neuregulin 1 (NRG1) as a key EGF family ligand that drives tissue repair following injury. NRG1, but not EGF, is upregulated upon damage and is expressed in mesenchymal stromal cells, macrophages, and Paneth cells.
View Article and Find Full Text PDFBackground: While critical insights have been gained from evaluating the genomic landscape of metastatic prostate cancer, utilizing this information to inform personalized treatment is in its infancy. We performed a retrospective pilot study to assess the current impact of precision medicine for locally advanced and metastatic prostate adenocarcinoma and evaluate how genomic data could be harnessed to individualize treatment.
Methods: Deep whole genome-sequencing was performed on 16 tumour-blood pairs from 13 prostate cancer patients; whole genome optical mapping was performed in a subset of 9 patients to further identify large structural variants.
Somatic structural variants (SVs), which are variants that typically impact >50 nucleotides, play a significant role in cancer development and evolution but are notoriously more difficult to detect than small variants from short-read next-generation sequencing (NGS) data. This is due to a combination of challenges attributed to the purity of tumour samples, tumour heterogeneity, limitations of short-read information from NGS and sequence alignment ambiguities. In spite of active development of SV detection tools (callers) over the past few years, each method has inherent advantages and limitations.
View Article and Find Full Text PDFBackground: The German Shepherd Dog (GSD) is one of the most common breeds on earth and has been bred for its utility and intelligence. It is often first choice for police and military work, as well as protection, disability assistance, and search-and-rescue. Yet, GSDs are well known to be susceptible to a range of genetic diseases that can interfere with their training.
View Article and Find Full Text PDFWhile surgery plays a major role in the treatment and potential cure of esophageal cancers, esophagectomy remains a high-risk operation with significant perioperative morbidity and mortality compared to other oncosurgical procedures. Perioperative management for esophagectomy is complex, and close attention to detail in various areas of anesthetic and perioperative management is crucial to improve postoperative outcomes. Patients undergoing esophagectomy should be offered an evidence-based risk assessment for their postoperative outcomes to allow active participation and informed, shared-decision making.
View Article and Find Full Text PDFThis study aimed to investigate the learning effectiveness of reading picture books with EMPATHICS elements using dialogic reading techniques in enhancing young children's English language learning and creativity. EMPATHICS is an acronym of Emotion and Empathy, Meaning and Motivation, Perseverance, Agency and Autonomy, Time, Habits of Mind, Intelligences, Character Strengths, and Self Factors (Oxford, 2016). It adopted a quasi-experimental design, and 78 kindergarten children aged from 4 to 5 years old in a cluster group were randomly assigned to the experimental and control groups.
View Article and Find Full Text PDF: African-American men are more likely than any other racial group to die from prostate cancer. The contribution of acquired genomic variation to this racial disparity is largely unknown, as genomic from Africa is lacking. Here, we performed the first tumor-normal paired deep whole-genome sequencing for Africa.
View Article and Find Full Text PDFObjective: The objective of the study was to perform quantitative failure and fault analysis to the diagnostic ultrasound (US) scanners in a radiology department after the implementation of the predictive maintenance (PdM) method; to study the reduction trend of machine failure; to understand machine operating parameters affecting the failure; to further optimize the method to maximize the machine clinically service time.
Materials And Methods: The PdM method has been implemented to the 5 US machines since 2013. Log books were used to record machine failures and their root causes together with the time spent on repair, all of which were retrieved, categorized, and analyzed for the period between 2013 and 2016.
Genomic rearrangements are common in cancer, with demonstrated links to disease progression and treatment response. These rearrangements can be complex, resulting in fusions of multiple chromosomal fragments and generation of derivative chromosomes. Although methods exist for detecting individual fusions, they are generally unable to reconstruct complex chained events.
View Article and Find Full Text PDFBackground: Mitochondrial genome (mtDNA) content is depleted in many cancers. In prostate cancer, there is intra-glandular as well as inter-patient mtDNA copy number variation. In this study, we determine if mtDNA content can be used as a predictor for prostate cancer staging and outcomes.
View Article and Find Full Text PDFThis study aims to quantitatively evaluate the cumulative effective dose and associated cancer risk of pediatric patients of US and Hong Kong population undergoing repetitive whole-body scans with dual-energy X-ray absorptiometry (DXA) during their diagnosis and follow-up periods. Organ-absorbed doses of pediatric patients undergoing DXA whole-body scan have been computer simulated using patient imaging parameters input to the Monte Carlo software PCXMC. Gender- and age-specific effective doses have been calculated with the simulated organ-absorbed doses using the ICRP-103 approach.
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