Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.

Vitamin D-dependent rickets type 1A (VDDR1A) is a rare condition caused by biallelic pathogenic variants in CYP27B1, which encodes 25-hydroxyvitamin D3-1-α-hydroxylase. Inadequate activity of this enzyme results in deficient 1α-hydroxylation of inactive 25-hydroxyvitamin D to biologically active 1,25-dihydroxyvitamin D, with consequent adverse effects on calcium and phosphate metabolism. A female child was clinically diagnosed at 18 months old with hypophosphatemic rickets based on phenotype and biochemical testing, with neither parent affected. A subsequent affected male sibling led to the reconsideration of the diagnosis. Exome sequencing showed a homozygous CYP27B1 c.1040T>A (p.Ile347Asn) variant for both children. No variants were found in genes associated with hypophosphatemic rickets. A review of published cases of VDDR1A with homozygous CYP27B1 variants indicates variable clinical presentation, lack of genotype-phenotype correlation, and low serum phosphate at diagnosis in most cases. These findings emphasize the clinical importance of molecular testing as part of the diagnostic evaluation for cases of non-nutritional rickets.

Sn-Doped Zinc Oxide as an Electron Transporting Layer for Enhanced Performance in PbS Quantum Dot Solar Cells.

Colloidal PbS quantum dot solar cells (QDSCs) have been primarily demonstrated in n-i-p structures by incorporating a solution-processed ZnO electron transporting layer (ETL). Nevertheless, the inherent energy barrier for the electron extraction at the ZnO/PbS junction along with the defective nature significantly diminishes the performance of the PbS QDSCs. In this study, by employing Sn-doped ZnO (ZTO) ETL, we have tuned the conduction band offset at the junction from spike-type to cliff-type so that the electron extraction barrier can be eliminated and the overall photovoltaic parameters can be enhanced (open-circuit voltage of 0.7 V, fill factor over 70%, and efficiency of 11.3%) as compared with the counterpart with the undoped ZnO ETL. The X-ray photoelectron spectroscopy (XPS) analysis revealed a mitigation of oxygen vacancies in the ZTO ETL of our PbS QDSCs. Our work signifies the importance of Sn doping into the conventional ZnO ETL for the superior electron extraction in PbS QDSCs.

Dystrophic calcinosis: structural and morphological composition, and evaluation of ethylenediaminetetraacetic acid ('EDTA') for potential local treatment.

BACKGROUND: To perform a detailed morphological analysis of the inorganic portion of two different clinical presentations of calcium-based deposits retrieved from subjects with SSc and identify a chemical dissolution of these deposits suitable for clinical use. METHODS: Chemical analysis using Fourier Transform IR spectroscopy ('FTIR'), Raman microscopy, Powder X-Ray Diffraction ('PXRD'), and Transmission Electron Microscopy ('TEM') was undertaken of two distinct types of calcinosis deposits: paste and stone. Calcinosis sample titration with ethylenediaminetetraacetic acid ('EDTA') assessed the concentration at which the EDTA dissolved the calcinosis deposits in vitro. RESULTS: FTIR spectra of the samples displayed peaks characteristic of hydroxyapatite, where signals attributable to the phosphate and carbonate ions were all identified. Polymorph characterization using Raman spectra were identical to a hydroxyapatite reference while the PXRD and electron diffraction patterns conclusively identified the mineral present as hydroxyapatite. TEM analysis showed differences of morphology between the samples. Rounded particles from stone samples were up to a few micron in size, while needle-like crystals from paste samples reached up to 0.5 µm in length. Calcium phosphate deposits were effectively dissolved with 3% aqueous solutions of EDTA, in vitro. Complete dissolution of both types of deposit was achieved in approximately 30 min using a molar ratio of EDTA/HAp of ≈ 300. CONCLUSIONS: Stone and paste calcium-based deposits both comprise hydroxyapatite, but the constituent crystals vary in size and morphology. Hydroxyapatite is the only crystalline polymorph present in the SSc-related calcinosis deposits. Hydroxyapatite can be dissolved in vitro using a dosage of EDTA considered safe for clinical application. Further research is required to establish the optimal medium to develop the medical product, determine the protocol for clinical application, and to assess the effectiveness of EDTA for local treatment of dystrophic calcinosis.

Evaluating data quality for blended data using a data quality framework.

In 2020 the U.S. Federal Committee on Statistical Methodology (FCSM) released "A Framework for Data Quality", organized by 11 dimensions of data quality grouped among three domains of quality (utility, objectivity, integrity). This paper addresses the use of the FCSM Framework for data quality assessments of blended data. The FCSM Framework applies to all types of data, however best practices for implementation have not been documented. We applied the FCSM Framework for three health-research related case studies. For each case study, assessments of data quality dimensions were performed to identify threats to quality, possible mitigations of those threats, and trade-offs among them. From these assessments the authors concluded: 1) data quality assessments are more complex in practice than anticipated and expert guidance and documentation are important; 2) each dimension may not be equally important for different data uses; 3) data quality assessments can be subjective and having a quantitative tool could help explain the results, however, quantitative assessments may be closely tied to the intended use of the dataset; 4) there are common trade-offs and mitigations for some threats to quality among dimensions. This paper is one of the first to apply the FCSM Framework to specific use-cases and illustrates a process for similar data uses.

Pressurized Back-Junction Doping via Spray-Coating Silver Nanowires Top Electrodes for Efficient Charge Collection in Bifacial Colloidal PbS Quantum Dot Solar Cells.

Colloidal PbS quantum-dot solar cells (QDSCs) have long suffered from inefficient charge collection near the back-junction due to the lack of p-doping strategy, rendering their bifacial photovoltaic applications unsuccessful. Here, we report highly efficient photocarrier collection in bifacial colloidal PbS QDSCs by exploiting spray-coated silver nanowires (AgNWs) top electrodes. During our spray-coating process, pressurized Ag diffusion occurred toward the active layer, which induced effective p-doping and deep-level passivation. By manipulating the spray pressure, optimum AgNWs' stacking morphology enabling an appropriate level of Ag diffusion could be achieved, leading to Jsc over 30 mA/cm2 from the conventional n-i-p structure upon light illumination to the film side. The morphological and electrical behaviors of AgNWs according to the spray pressure are comprehensively explained in relation to the device performance. Finally, 50 bifacial cells were fabricated over 49 cm2 sized glass substrate, demonstrating the large-area processability and functionality of the spray-coated AgNWs with the effective back-junction engineering.

Foldable Perovskite Solar Cells Using Carbon Nanotube-Embedded Ultrathin Polyimide Conductor.

Recently, foldable electronics technology has become the focus of both academic and industrial research. The foldable device technology is distinct from flexible technology, as foldable devices have to withstand severe mechanical stresses such as those caused by an extremely small bending radius of 0.5 mm. To realize foldable devices, transparent conductors must exhibit outstanding mechanical resilience, for which they must be micrometer-thin, and the conducting material must be embedded into a substrate. Here, single-walled carbon nanotubes (CNTs)-polyimide (PI) composite film with a thickness of 7 µm is synthesized and used as a foldable transparent conductor in perovskite solar cells (PSCs). During the high-temperature curing of the CNTs-embedded PI conductor, the CNTs are stably and strongly p-doped using MoO x , resulting in enhanced conductivity and hole transportability. The ultrathin foldable transparent conductor exhibits a sheet resistance of 82 Ω sq.-1 and transmittance of 80% at 700 nm, with a maximum-power-point-tracking-output of 15.2% when made into a foldable solar cell. The foldable solar cells can withstand more than 10 000 folding cycles with a folding radius of 0.5 mm. Such mechanically resilient PSCs are unprecedented; further, they exhibit the best performance among the carbon-nanotube-transparent-electrode-based flexible solar cells.

Evaluation of microflow configurations for scale inhibition and serial X-ray diffraction analysis of crystallization processes.

The clean and reproducible conditions provided by microfluidic devices are ideal sample environments for in situ analyses of chemical and biochemical reactions and assembly processes. However, the small size of microchannels makes investigating the crystallization of poorly soluble materials on-chip challenging due to crystal nucleation and growth that result in channel fouling and blockage. Here, we demonstrate a reusable insert-based microfluidic platform for serial X-ray diffraction analysis and examine scale formation in response to continuous and segmented flow configurations across a range of temperatures. Under continuous flow, scale formation on the reactor walls begins almost immediately on mixing of the crystallizing species, which over time results in occlusion of the channel. Depletion of ions at the start of the channel results in reduced crystallization towards the end of the channel. Conversely, segmented flow can control crystallization, so it occurs entirely within the droplet. Consequently, the spatial location within the channel represents a temporal point in the crystallization process. Whilst each method can provide useful crystallographic information, time-resolved information is lost when reactor fouling occurs and changes the solution conditions with time. The flow within a single device can be manipulated to give a broad range of information addressing surface interaction or solution crystallization.

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.

Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1-BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal ~593 kb between BP4 and BP5, and a distal ~220 kb between BP2 and BP3. We performed a search for patients carrying 16p11.2 CNVs, as detected using chromosome microarray (CMA), in the Molecular Diagnostic Laboratory at the University of Texas Medical Branch (UTMB), in Galveston. From March 2013 through April 2018, a total of 1200 CMA results were generated for germline testing, and 14 patients tested positive for 16p11.2 CNVs, of whom 7 had proximal deletion, 2 had distal deletion, 4 had proximal duplication, and 1 had distal duplication. Herein, we provide detailed phenotype data for these patients. Our study results show that developmental delay, abnormal body weight, behavioral problems, and hypotonia are common phenotypes associated with 16p11.2 CNVs.

Super-Resolution Microscopy Reveals Shape and Distribution of Dislocations in Single-Crystal Nanocomposites.

With their potential to offer new properties, single crystals containing nanoparticles provide an attractive class of nanocomposite materials. However, to fully profit from these, it is essential that we can characterise their 3D structures, identifying the locations of individual nanoparticles, and the defects present within the host crystals. Using calcite crystals containing quantum dots as a model system, we here use 3D stochastic optical reconstruction microscopy (STORM) to locate the positions of the nanoparticles within the host crystal. The nanoparticles are shown to preferentially associate with dislocations in a manner previously recognised for atomic impurities, rendering these defects visible by STORM. Our images also demonstrate that the types of dislocations formed at the crystal/substrate interface vary according to the nucleation face, and dislocation loops are observed that have entirely different geometries to classic misfit dislocations. This approach offers a rapid, easily accessed, and non-destructive method for visualising the dislocations present within crystals, and gives insight into the mechanisms by which additives become occluded within crystals.

3D Printer-Based Encapsulated Origami Electronics for Extreme System Stretchability and High Areal Coverage.

Stretchability and areal coverage of active devices are critical design considerations of stretchable or wearable photovoltaics and photodetections where high areal coverages are required. However, simultaneously maximizing both properties in conventional island-bridge structures through traditional two-dimensional manufacturing processes is difficult due to their inherent trade-offs. Here, a 3D printer-based strategy to achieve extreme system stretchability and high areal coverage through combining fused deposition modeling (FDM) and flexible conductive nanocomposites is reported. Distinguished from typical approaches of using conductive filaments for FDM which have a flexibility dilemma and conductivity trade-offs, the proposed axiomatic approach to embed a two-dimensional silver nanowire percolation network into the surfaces of flexible 3D printed structures offers sufficient conductivity and deformability as well as additional benefits of electrical junction enhancement and encapsulation of silver nanowires. Kirigami/origami-pattern-guided three-dimensional arrangements of encapsulated interconnections provide efficient control over stretchability and areal coverage. The suggested process enables a perovskite solar module with an initial areal coverage of ∼97% to be electrically and mechanically reversible with 400% system stretchability and 25 000% interconnect stretchability under the 1000 cycle test, by folding down or hiding the origami-applied interconnects under the islands. This 3D printing strategy of potentially low cost, large size capabilities, and high speed is promising for highly flexible future energy conversion applications.

Efficacy of therapeutic plasma exchange in reducing the incidence of recurrent pancreatitis related to familial chylomicronemia.

BACKGROUND: Familial chylomicronemia syndrome (FCS) is caused by a genetic defect in triglyceride (TG) metabolism that leads to severe hypertriglyceridemia, which in turn is associated with multiple morbidities and may cause severe pancreatitis that is both recurrent and progressive. Management of hypertriglyceridemia in FCS is challenging, as both dietary and medical interventions are often ineffective. Therapeutic plasma exchange (TPE) has been shown to rapidly decrease circulating levels of chylomicrons and TGs in patients presenting with acute hypertriglyceridemic-associated pancreatitis. Conversely, limited evidence exists to suggest that prophylactic use of TPE is effective at preventing recurrence of acute pancreatitis. CASE REPORT: Herein, we report our experience with the use of chronic, prophylactic TPE to reduce the incidence of recurrent acute pancreatitis in a patient with FCS.

Stretchable/flexible silver nanowire Electrodes for energy device applications.

Research on sustainable and high-efficiency energy devices has recently emerged as an important global issue. These devices are now moving beyond the form of a bulk, rigid platform to a portable, flexible/stretchable format that is easily available in our daily lives. Similar to the development of an active layer for the production of next-generation energy devices, the fabrication of flexible/stretchable electrodes for the easy flow of electrons is also very important. Silver nanowire electrodes have high electronic conductivity even in a flexible/stretchable state due to their high aspect ratio and percolation network structures compared to conventional electrodes. Herein, we summarize the research in the field of flexible/stretchable electronics on energy devices fabricated using silver nanowires as the electrodes. Additionally, for a systematic presentation of the current research trends, this review classifies the surveyed research efforts into the categories of energy production, storage, and consumption.

Reliability of peer assessment of patient education simulations.

BACKGROUND: At Belmont University College of Pharmacy, the final introductory pharmacy practice experience (IPPE) course in the IPPE series, IPPE V, is designed to assess readiness for advanced pharmacy practice experiences and includes three patient counseling simulations. These simulations have required greater resources. The objective of our study was to determine if student performance on patient counseling simulations can be accurately assessed by peers. EDUCATIONAL ACTIVITY: Students were required to participate in patient counseling simulations throughout the semester. For each simulation, students were assigned one role: pharmacist, patient, or peer-evaluator. Each pharmacist counseled the patient on a specific product while the peer-evaluator assessed the accuracy and completeness of the counseling using a detailed checklist. The patient used a checklist to assess the pharmacist's communication skills. Faculty assessed the student evaluators and the patients by counting the number of discrepancies between the student evaluator's and the live faculty checklists. Students were surveyed at the end of the semester regarding their beliefs and perceptions of peer assessment for the communication simulations. CRITICAL ANALYSIS OF THE EDUCATIONAL ACTIVITY: Of 65 students enrolled in the spring 2018 course, complete recordings and checklists were available for 54 simulations (83.1%). Interrater reliability was high with all correlation coefficients exceeding 0.86. Students agreed that they were comfortable assessing patient education content (82.14%) and communication skills (82.14%). Our results indicate that peer evaluation during patient education simulation is reliable and acceptable to students.

Controlling the Morphology of Organic-Inorganic Hybrid Perovskites through Dual Additive-Mediated Crystallization for Solar Cell Applications.

To realize a high-efficiency perovskite solar cell (PSC), it is critical to optimize the morphology of the perovskite film for a uniform and smooth finish with large grain size during film formation. Using a chemical compound as an additive to the precursor solution has recently been established as a promising method to control the morphology of the perovskite film. In this study, we propose a new method to achieve an improved morphology of the methylammonium lead iodide perovskite film by simultaneous addition of dimethyl sulfoxide (DMSO) and methoxyammonium salt (MeO) (dual additives). We demonstrated that an appropriate amount of the MeO additive helps the precursors form a stable intermediated PbI2-DMSO adduct during film formation and enlarges the perovskite grains by retarding the kinetics of conversion of the adduct to the perovskite. Furthermore, we experimentally observed that the optical band gaps and crystal structures of perovskite films are reasonably unaffected by the MeO additive because MeO is almost eliminated during annealing. By optimizing the amount of MeO, we achieved improved device performances of the PSCs with a high power conversion efficiency of 19.71% that is ∼15% higher than that obtained for the control device (17.15%).

Suggested pharmacy practice laboratory activities to align with pre-APPE domains in the Doctor of Pharmacy curriculum.

OUR SITUATION: The Accreditation Council for Pharmacy Education outlines ability statements that pharmacy students should be able to demonstrate prior to beginning their Advanced Pharmacy Practice Experiences (APPEs). Practice laboratory courses offer extensive opportunities for students to participate in activities and assessments that enable them to meet the objectives outlined in the Pre-APPE Core Domains in Standards 2016. This review identifies selected published literature, activities, and assessment methods that can be adapted and implemented in practice laboratory courses to help achieve the abilities outlined within the Pre-APPE Core Domains. METHODOLOGICAL LITERATURE REVIEW: The Medline database and journals related to pharmacy education were searched to identify activities and assessments for each domain. Search terms for each core domain were extracted from the domain titles, ability statements, and performance competencies and coupled with "laboratory" or "lab." "Pharmacy" was also added as a search term when searching the Medline database. Preference was given to example activities published in the last 15 years. Abstracts and activities based on author experience were also included. OUR RECOMMENDATIONS AND THEIR APPLICATIONS: Specific examples of how activities and assessments can be included in practice laboratories to develop or refresh skills identified in the pre-APPE core domains were described. POTENTIAL IMPACT: The practice laboratory setting is an ideal place for students to learn and practice the skills necessary to demonstrate readiness for APPEs. This paper serves as a resource for instructors, curriculum committees, or pharmacy programs looking for ideas to expand specific training or develop particular skill areas.

Health-Related Internet Use Among Otolaryngology Patients.

OBJECTIVE: The association between online health resources use in specific otolaryngology patients is poorly understood. To better understand health-related Internet use by otolaryngology patients, we surveyed first-visit patients at academic and private practice clinics in Iowa. METHODS: Data on socioeconomic status, access, and utilization of online resources were collected. Age distributions were compared by t test, and categorical variables were compared by chi-square analysis. Multivariate logistic regression was used to estimate odds ratios for association between independent variables (age, sex, educational attainment, otolaryngology subspecialty, etc). RESULTS: Data showed that 8.7% lacked Internet access; an additional 5.4% reported access only in a public place or at work. Younger, more educated, and more urban patients reported higher rates of Internet access. Among university patients, patients seeing head and neck oncologists were most likely to report no Internet access (10.9%). Just over one-third of patients used the Internet to research their health condition prior to their appointment. CONCLUSIONS: Internet access was far from universal among this large cohort of otolaryngology outpatients. Head and neck cancer (HNC) patients report the least online access among all otolaryngology subspecialties. Providers should consider nonelectronic patient resources for older, more rural, less educated, and HNC patient populations as online/electronic methods of communication may not be accessible to these groups.

Enhanced Thermoelectric Conversion Efficiency of CVD Graphene with Reduced Grain Sizes.

The grain size of CVD (Chemical Vapor Deposition) graphene was controlled by changing the precursor gas flow rates, operation temperature, and chamber pressure. Graphene of average grain sizes of 4.1 µm, 2.2 µm, and 0.5 µm was synthesized in high quality and full coverage. The possibility to tailor the thermoelectric conversion characteristics of graphene has been exhibited by examining the grain size effect on the three elementary thermal and electrical properties of σ, S, and k. Electrical conductivity (σ) and Seebeck coefficients (S) were measured in a vacuum for supported graphene on SiO2/Si FET (Field Effect Transistor) substrates so that the charge carrier density could be changed by applying a gate voltage (VG). Mobility (µ) values of 529, 459, and 314 cm²/V·s for holes and 1042, 745, and 490 cm²/V·s for electrons for the three grain sizes of 4.1 µm, 2.2 µm, and 0.5 µm, respectively, were obtained from the slopes of the measured σ vs. VG graphs. The power factor (PF), the electrical portion of the thermoelectric figure of merit (ZT), decreased by about one half as the grain size was decreased, while the thermal conductivity (k) decreased by one quarter for the same grain decrease. Finally, the resulting ZT increased more than two times when the grain size was reduced from 4.1 µm to 0.5 µm.

Spontaneous Respiration Using Intravenous Anesthesia and High-Flow Nasal Oxygen (STRIVE Hi) Management of Acute Adult Epiglottitis: A Case Report.

High-flow nasal oxygen (HFNO) is a potentially life-saving adjunct in the emergency management of the obstructed airway. HFNO has multiple beneficial applications in critical care and respiratory support, but its use in emergency-obstructed airway management has not been defined. This case report describes spontaneous respiration using intravenous anesthesia and high-flow nasal oxygen to successfully manage acute adult epiglottitis with rapidly progressing airway obstruction. Oxygenation, carbon dioxide levels, and airway patency were maintained, which facilitated endotracheal intubation while the patient was spontaneously breathing during general anesthesia. The application of HFNO can be extended to emergency airway obstruction.