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. Providing culturally competent healthcare, critically in the Indigenous and Black pediatric population, may improve long-term outcomes by reducing discriminatory barriers to healthcare access.

Lower limb deformities in children need careful orthopedic evaluation to distinguish physiological forms from pathological ones. X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by PHEX gene mutations where tibial varum can be the first sign.

We report a family presenting with severe tibial varum, harbouring a rare

intron mutation, c.1586+6T>C. This is the first clinical description available in literature for this variant. Despite the previous prediction of a mild phenotype in functional study, our patients showed important bone deformities, rickets and impaired growth since infancy followed by severe bone pain, hearing loss and reduced life quality in adulthood. Burosumab therapy improved biochemical and radiological findings in children and ameliorated quality of life in adults.

This case demonstrated c.1586+6T>C causes a severe XLHphenotype, responsive to Burosumab. Familial genetic screening, enlarged to intronic region analysis, when XLH is suspected, allows precocious diagnosis to start timely the appropriate treatment.

C causes a severe XLH phenotype, responsive to Burosumab. Familial genetic screening, enlarged to intronic region analysis, when XLH is suspected, allows precocious diagnosis to start timely the appropriate treatment.Microfluidic devices are becoming increasingly important in various fields of pharmacy, flow chemistry and healthcare. In the embedded microchannel, the flow rates, the dynamic viscosity of the transported liquids and the fluid dynamic properties play an important role. Various functional auxiliary components of microfluidic devices such as flow restrictors, valves and flow meters need to be characterised with liquids used in several microfluidic applications. However, calibration with water does not always reflect the behaviour of the liquids used in the different applications. Therefore, several National Metrology Institutes (NMI) have developed micro-pipe viscometers for traceable inline measurement of the dynamic viscosity of liquids used in flow applications as part of the EMPIR 18HLT08 MeDDII project. These micro-pipe viscometers allow the calibration of any flow device at different flow rates and the calibration of the dynamic viscosity of the liquid or liquid mixture used under actual flow conditions. The validation of the micro-pipe viscometers has been performed either with traceable reference oils or with different liquids typically administered in hospitals, such as saline and/or glucose solutions or even glycerol-water mixtures for higher dynamic viscosities. Furthermore, measurement results of a commercially available device and a technology demonstrator for the inline measurement of dynamic viscosity and density are presented in this paper.A metal-organic framework (MOF) based on a conjugated organic ligand and a transition-metal ion was designed and used to construct a novel multiwalled carbon nanotube (MWNT)/MOF interphase via hierarchical assembly on the carbon fiber (CF) surface and was compared to various interphases established by MWNT and MOF. An intertwined MWNT and MOF "jujube core" was randomly dispersed on MWNT@CF and MOF@CF surfaces, while interpenetrating structures with the MWNT network and MOF jujube core were simultaneously observed on MWNT/MOF@CF due to coordination bonds and π-π conjugation effects, which were derived from the MWNT template with carboxyl groups and sp2-hybridized domains as well as the secondary growth of MOF to promote self-assembly and the connection of MOF. The transverse fiber bundle test (TFBT) strength and interfacial shear strength (IFSS) of the MWNT/MOF@CF composite were 36.9, 6.1, and 20.8%, 16.3% higher than those of MWNT@CF and MOF@CF composites, which were attributed to the smoothed modulus transition of the stiffening interphase formed by the MWNT/MOF hybrid structure as "armor" to effectively buffer the stress transfer between a carbon fiber and the resin matrix. Compared to MWNT@CF and MOF@CF composites, MWNT/MOF@CF composites had the highest EMI shielding effectiveness, which was attributed to the combined effects of multiple reflections, conductive loss, and interface polarization from the interpenetrating MWNT/MOF hybrid structures, which realized the integration of the structure and function of the carbon fiber composites.The sugar moieties of natural flavonoids determine their absorption, bioavailability, and bioactivity in humans. To explore structure-dependent bioactivities of quercetin, isoquercetin, and rutin, which have the same basic skeleton linking different sugar moieties, we systemically investigated the ameliorative effects of dietary these flavonoids on high-fat diet (HFD)-induced nonalcoholic fatty liver disease (NAFLD) of mice. Our results revealed that isoquercetin exhibits the strongest capability in improving NAFLD phenotypes of mice, including body and liver weight gain, glucose intolerance, and systemic inflammation in comparison with quercetin and rutin. At the molecular level, dietary isoquercetin markedly ameliorated liver dysfunction and host metabolic disorders in mice with NAFLD. selleck compound At the microbial level, the three flavonoids compounds, especially isoquercetin, can effectively regulate the gut microbiota composition, such as genera Akkermansia, Bifidobacterium, and Lactobacillus, which were significantly disrupted in NAFLD mice. These comparative findings offer new insights into the structure-dependent activities of natural flavonoids for NAFLD treatment.Microplastics (MPs) are contaminants widely distributed in the environment and biota. Previously, most studies focused on identifying and characterizing microplastics in the marine environment, while their impact on freshwater ecosystems remains to be determined. This review summarizes recent findings regarding MPs physiological, immunological, and genetic effects on amphibians based upon the biological relevance of this species as indicators of freshwater pollution. Data demonstrated that MPs contamination may potentially alter various physiological processes in aquatic animals, mainly in the embryonic stages. It is worthwhile noting that adverse effects might be enhanced in synergy with other pollutants. However, amphibians might counteract the effect of MPs and other pollutants through microbiota present both in the intestine and on the skin. In addition, amphibian microbial composition might also be altered by MPs themselves in a manner that leads to unpredicted health consequences in amphibians.Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.Thermal conductivity is a crucial property for thermal management of modern electronics, thermal energy conversion, and energy sustainable development. However, it is very expensive and time-consuming to calculate the phonon thermal conductivity of materials through the fully ab initio calculations or molecular dynamics simulations. Exploiting the fundamental correlation between elastic properties (bulk and shear modulus) and phonon thermal conductivity of crystalline materials, we develop an efficient method, phonon-elasticity-thermal (PET) model to rapidly and accurately estimate the phonon thermal conductivity at the high-temperature limit based on the Born-von Karman periodic boundary condition and Umklapp phonon-phonon scattering relaxation time approximation. As a demonstration, we calculate the phonon thermal conductivities of 226 inorganic solid materials covering the whole 7 crystalline systems within a high-throughput calculation framework on account of our PET model. The high-throughput prediced phonon thermal conductivities is in good agreement with experimental measurements. Our results imply the potential application of the elasticity-based phonon thermal conductivity estimation to screen or guide the material discovery of target phonon thermal conductivity and also provide a reference for the study of phonon-elasticity-thermal relationship.

Quality and safety in healthcare are of the utmost importance, but little is known about whether undergraduate students are aware of patient safety concepts. The objectives of our study were to assess the perception of medical students of challenges in patient safety, and collect their perceptions of error management and prevention.

This study used an exploratory mixed method strategy. The first study phase collected data from semi-structured interviews of 28 students. Based on this, an online survey was constructed and sent to about 80,000 medical students in Germany. 1053 replies were received and analyzed for responses based on gender, curriculum type (problem based [PBC] vs. science based curriculum [SBC]) and years of training.

Most students understand the importance of patient safety, error avoidance, and the challenges of patient safety interventions. Four themes were identified (a)the culture of patient safety (what is a good doctor? Doctors' responsibility), (b)the working environment (the inevitability of mistakes, high work load, hierarchy, competition, teamwork), (c)the challenges of risk reduction (error avoidance, management, skills), and (d)materialistic issue (income vs. humanistic values). Female students were more risk aware than male students. Sixteen percent of students expect negative effects (e.g. punishment) when medical errors were disclosed in a team. Regardless, >70% regard teamwork as an effective error avoidance measure. Error disclosure willingness was high (89.7%).

Although not formally part of the curriculum, students had a positive perspective concerning patient safety. The opportunities and challenges for incorporating patient safety content into the training curriculum were identified and presented.

Although not formally part of the curriculum, students had a positive perspective concerning patient safety. The opportunities and challenges for incorporating patient safety content into the training curriculum were identified and presented.The high incidence and difficulties of treatment of cancer have always been a challenge for mankind. Two-photon photodynamic therapy (TP-PDT) as a less invasive technique provides a new perspective for tumor treatment due to its low-energy near-infrared excitation, high targeting, and minor damage. At present, the emerging metal complexes used as the photosensitizers (PSs) in TP-PDT have aroused great interest. However, most metal complexes as PSs in TP-PDT still face some problems, such as slow clearance, unsatisfactory two-photon absorption (TPA) characteristics, high price, low reactivity, and poor solubility. In this work, density functional theory and time-dependent density functional theory were used to characterize the one/two-photon response, solvation free energy, and lipophilicity of a series of novel PSs applied in TP-PDT. The results suggest that based on complex 1, replacing Ru(II) center with Zn(II) (complex 2) can effectively prolong the triplet excited state lifetime while reducing the cost and environmental pollution, and the azetidine heterospirocycles were introduced into the ligand scaffold (complex 3), which effectively reduced the vibration relaxation of the ligand group and improved the water solubility; further, the addition of acetylenyl groups subtly enhanced the light absorption and significantly improved the two-photon response (complex 4).