Fetus in fetu (FIF) is a rare anomaly characterized by the presence of a monozygotic twin that becomes incorporated into the abdomen of its sibling during fetal development. FIF is a rare congenital condition typically identified in infancy. We present a case of FIF in a 16-year-old male, which is an extremely rare presentation during adolescence.
View Article and Find Full Text PDFParticipants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.
View Article and Find Full Text PDFPurpose: Current denture base resins lack adequate strength and antimicrobial properties, necessitating the exploration of alternative solutions. The purpose of this study was to evaluate the effects of curcumin incorporation on the physico-mechanical properties of heat-cured denture base resin, filling a gap in the literature regarding this correlation.
Methods: Heat-cured denture base resin was supplemented with increasing concentrations of curcumin (CR).
We present the reductive homologation of nitroalkanes through the utilization of the denitrative aminoalkylation reaction. This transformation is accomplished by the radical-radical coupling of alkyl radicals derived from nitroalkanes and persistent aminoalkyl radicals. By capitalizing on the diverse α-functionalization of nitroalkanes, α,β-multifunctionalized amines can be readily accessed.
View Article and Find Full Text PDFType 2 diabetes mellitus (T2DM), responsible for most diabetes cases recorded worldwide, increases the risk of chronic wounds and amputation. Patients with T2DM appear to be more susceptible to delayed wound healing due to their treatment adherence. This review explores the specifics of polypharmacy, side effects, possible drug interactions and the importance of medication adherence for therapeutic efficacy.
View Article and Find Full Text PDFCardiac muscle α-actin is a key protein of the thin filament in the muscle sarcomere that, together with myosin thick filaments, produce force and contraction important for normal heart function. Missense mutations in cardiac muscle α-actin can cause hypertrophic cardiomyopathy, a complex disorder of the heart characterized by hypercontractility at the molecular scale that leads to diverse clinical phenotypes. While the clinical aspects of hypertrophic cardiomyopathy have been extensively studied, the molecular mechanisms of missense mutations in cardiac muscle α-actin that cause the disease remain largely elusive.
View Article and Find Full Text PDFBone tissue exhibits self-healing properties; however, not all defects can be repaired without surgical intervention. Bone tissue engineering offers artificial scaffolds, which can act as a temporary matrix for bone regeneration. The aim of this study was to manufacture scaffolds made of poly(lactic acid), poly(ε-caprolactone), poly(propylene fumarate), and poly(ethylene glycol) modified with bioglass, beta tricalcium phosphate (TCP), and/or wollastonite (W) particles.
View Article and Find Full Text PDFThe shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.
View Article and Find Full Text PDFMaterials based on highly reactive α-tricalcium phosphate (α-TCP) powder were developed and evaluated. Furthermore, the impact of different polymeric additives, such as citrus pectin or polyacrylamide (PAAM) modified with sago starch, neem flower, or rambutan peel, on the physiochemical and biological properties of the developed materials was assessed. The addition of modified PAAM shortened the setting process of bone cements and decreased their compressive strength.
View Article and Find Full Text PDFTraditionally, China has been more reliant on a model of care that ensures older adults are cared for by family members. Whilst promoting the idea of older adults ageing in their own homes is essential, the provision of in-home care must shift from primarily relying on family caregivers to a model that places greater emphasis on gerontechnologies and enhanced healthcare service delivery. In this perspective article we argue for the adoption of a 'smart home' model in aged care in China.
View Article and Find Full Text PDFThe study aimed to enhance quercetin production in radish by optimizing -mediated transformation. This protocol involved infecting radish seed embryo axis with EHA105 strain carrying the . Radish seeds were infected with the suspension (0.
View Article and Find Full Text PDFInt J Environ Res Public Health
March 2024
Electronic Heath Records (EHRs) play vital roles in facilitating streamlined service provision and governance across the Australian health system. Given the recent challenges due to the COVID-19 pandemic, an ageing population, health workforce silos, and growing inefficiencies in traditional systems, a detailed historical analysis of the use of EHR research in Australia is necessary. The aim of this study is to examine the trends and patterns in EHR research in Australia over the past three decades by employing bibliometric methods.
View Article and Find Full Text PDFBone tissue is one of the most transplanted tissues. The ageing population and bone diseases are the main causes of the growing need for novel treatments offered by bone tissue engineering. Three-dimensional (3D) scaffolds, as artificial structures that fulfil certain characteristics, can be used as a temporary matrix for bone regeneration.
View Article and Find Full Text PDFObjective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.
Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.
ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide.
View Article and Find Full Text PDFBiphenyl-fused-dioxacyclodecynes are a promising class of strained alkyne for use in Cu-free 'click' reactions. In this paper, a series of functionalised derivatives of this class of reagent, containing fluorescent groups, are described. Studies aimed at understanding and increasing the reactivity of the alkynes are also presented, together with an investigation of the bioconjugation of the reagents with an azide-labelled protein.
View Article and Find Full Text PDFStayGold is an exceptionally bright and stable fluorescent protein that is highly resistant to photobleaching. Despite favorable fluorescence properties, use of StayGold as a fluorescent tag is limited because it forms a natural dimer. Here we report the 1.
View Article and Find Full Text PDFBackground: Culturally and linguistically diverse (CALD) mothers are influential in children's behaviours, yet little is known about this population. Furthermore, insufficient quantitative and context-based studies are available with CALD mothers and their access to oral health care. To address this gap, the study investigates oral health behaviours, psychological factors and remoteness area with dental utilisation in CALD mothers, within the NSW context.
View Article and Find Full Text PDFThe implications of the existence of different actins expressed in epithelial cells for network mechanics and dynamics is investigated by microrheology and confocal imaging. γ-actin predominately found in the apical cortex forms stiffer networks compared to β-actin, which is preferentially organized in stress fibers. We attribute this to selective interactions with Mg-ions interconnecting the filaments' N-termini.
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