Direct Test Research Articles

Organizational Performance Improvement Model Based on Talent Management Through Religiosity Organizational Citizenship Behavior

Purpose: This research aims to determine the influence of talent management on organizational performance; the influence of religiosity organizational citizenship behavior as a mediator on organizational performance; the influence of digital literacy as a mediator on organizational performance; the influence of talent management, digital literacy and religiosity organizational citizenship behavior simultaneously on employee performance and employee performance. organization, and designing a model for improving organizational performance through digital literacy and religiosity organizational citizenship behavior as mediators Theoretical Framework: Drawing from the practice-based view theory, this research focuses on several constructs and relationships between talent management, digital literacy and organizational citizenship behavior in ASNs in government agencies which have not yet been widely studied. This research is an effort to develop a model for improving organizational performance through talent management and ASN digital literacy and also combines aspects of organizational citizenship behavior which are based on religious values, which are still rarely used by previous researchers. The research method used is an explanatory survey approach to explain the relationship between variables through hypothesis testing in the field. Research that uses descriptive surveys and explanatory survey methods is carried out by collecting information from samples directly at the scene of the incident (empirical) through questionnaires with the aim of finding out the opinions of the samples regarding the research problem. And this research uses the Partial Least Squares Structural Equation Modeling analysis technique (PLS-SEM), to model many variables in research Results and Discussion: To examine the influence of mediator variables, Partial Least Squares Structural Equation Modeling analysis technique (PLS-SEM),to estimate the causal relationship between variables (causal model) that has been determined previously based on the theory. Answering research questions requires correct statistical data processing. The results of this research will be more powerful if adequate statistical data processing is used. Scientifically based research shows that findings can be evaluated and proven, and if other researchers used the same procedures, the results would almost certainly be the same. As a result, researchers chose statistical data processing techniques to use in these calculations. The result of research. Based on the results of research regarding "Model for Improving Organizational Performance Based on Talent Management Through Religious Organizational Citizen Behavior", the following results were obtained: Overview of talent management, religiosity organizational citizenship behavior, digital literacy, employee performance and organizational performance in Regency/City Government Agencies throughout West Java Province are in the high/good category, which means they are running in accordance with agency procedures. Talent management has a significant positive effect on organizational performance in Regency/City Government Agencies throughout West Java Province. This is based on the results of direct effect hypothesis testing, the t-statistics results obtained were 2.482 and the significance results (pvalue) obtained were 0.007 (0.007<0.05), so Ho was rejected and Ha was accepted. Religious organizational citizenship behavior is unable to mediate the influence of talent management on employee performance. This is based on the results of testing the indirect effect hypothesis, obtaining a significance result (pvalue) of 0.053 (0.053>0.05). Meanwhile, digital literacy is able to mediate the influence of Talent Management on Employee Performance. This is based on the results of testing the indirect effect hypothesis, obtained a significance result (pvalue) of 0.000 (0.000<0.05). Digital literacy, religiosity organizational citizenship behavior and employee performance are able to mediate the influence of talent management on organizational performance. This is based on the results of testing the indirect effect hypothesis, obtained a significance result (pvalue) <0.05. There is an increase in organizational performance through digital literacy and religiosity organizational citizenship behavior in talent management. Implications: The research results show that religiosity organizational citizenship behavior, digital literacy and employee performance are variables that can mediate the influence of talent management on organizational performance in Regency/City Government Agencies throughout West Java Province.

An improved description of charm fragmentation data

We consider the fragmentation of heavy quarks into heavy-flavoured hadrons, specifically the production of charmed mesons in e+e-\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$e^+e^-$$\\end{document} collisions, at different centre-of-mass energies. We focus our attention on the ratio of moments of the D∗+\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$D^{*+}$$\\end{document} energy spectrum measured by ALEPH and CLEO. This ratio is believed to provide us with a direct test of perturbative QCD evolution because hadronisation effects should cancel between the numerator and denominator. However, state-of-the-art calculations based on standard (final-state) collinear factorisation fail to describe the experimental data. We show that this discrepancy is considerably reduced if heavy-quark threshold effects are accounted for not only in DGLAP evolution, as it is usually done, but also in the resummed coefficient functions.

Abstract 45: Deletion of a 4-bp noncoding genomic segment orthologous to human rs1882961 results in sex-divergent changes in salt-induced hypertension in Dahl salt-sensitive rats

Most single nucleotide polymorphisms (SNPs) associated with human blood pressure (BP) are in noncoding regions of the genome and have small effect sizes in the general population. Functional studies in a controlled model system are essential to ascertain the effect of these noncoding loci on blood pressure. Such direct testing is challenging and largely absent, contributing to a critical gap between genetic discoveries and physiological understanding. We reasoned that physiological studies in genetically engineered and phenotypically permissive animal models would help to address this critical gap. We tested the hypothesis by studying the noncoding SNP rs1882961. The T allele of rs1882961, which has a frequency of approximately 30% in the European population, is associated with 0.23 mmHg higher systolic blood pressure in humans. We mapped the human rs1882961 SNP to the rat genome and used CRISPR/Cas9 to delete a 4-bp segment encompassed the rs1882961 orthologous site in the genome of the Dahl salt-sensitive (SS) rat (SS-Δrs1882961). Male SS-Δrs1882961 -/- rats exhibited significantly higher mean arterial pressure (MAP) and systolic and diastolic blood pressures (SBP and DBP) than wild-type littermates after the rats were fed a high-salt (4% NaCl) diet for 14 days (156.6 ± 5.9 vs 149.3 ± 5.1 mmHg for MAP, 179.4 ± 7.8 vs 171.9 ± 6.0 mmHg for SBP, and 133.2 ± 4.6 vs 125.1 ± 4.5 mmHg for DBP; n=7 for SS-Δrs1882961 -/- and 9 for wild-type, p<0.05). In contrast, MAP, SBP, DBP, and pulse pressure of female SS-Δrs1882961 -/- rats were significantly lower than wild-type littermates on a high-salt diet (139.8 ± 1.8 vs 149.5 ± 4.7 mmHg for MAP, 159.3 ± 2.5 vs 172.3 ± 6.0 mmHg for SBP, 116.8 ± 1.5 vs 124.5 ± 3.7 mmHg for DBP, and 42.5 ± 1.6 vs 47.7 ± 2.3 mmHg for pulse pressure; n=8 for SS-Δrs1882961 -/- and 7 for wild-type, p<0.05). The difference in systolic blood pressure reached more than 10 mmHg in female rats. Urinary albumin and protein levels of SS-Δrs1882961 -/- rats after 14 days on a high-salt diet tended to be higher in male and lower in female compared with wild-type littermates. The remarkable effects on BP as well as the sex-divergent changes resulted from a 4-bp noncoding segment deletion around rs1882961 orthologous site indicate that noncoding genomic segment may have profound impact on phenotypes on permissive genomic background and with informative stressors.

Shear behavior and dilatancy of an artificial hard-matrix bimrock: An experimental study focusing on the role of blocky structure

Bimrocks are characterized by their geotechnically significant blocky structure, presenting complex shear behavior. This study investigates the shear behavior and dilatancy of bimrocks featuring a rock-like matrix, such as conglomerates. The study addresses a gap in current research, which has predominantly examined the shear behavior of soil-matrix bimrocks (bimsoils). Laboratory direct shear tests were performed on idealized models with varying volumetric block proportions (VBPs). The results highlight that blocks exert both positive and negative effects on shear strength, dilation, and block breakage factor (BF), depending on VBP. Results indicate 40% and 60% as critical VBPs, revealing distinct shear strength trends within this range, contrary to the dominant downward trend. Blocks positively impact dilation and BF between 20% and 50% VBP, while negatively affecting them beyond this range. Blocky skeleton inherently promotes stable dilatancy under normal stress increments and intensifies stress dependency of shear strength. Variations in dilation angle concerning normal stress and VBP suggest the potential for characterizing this factor using equivalent strength and roughness, akin to rockfill materials. Indirect assessments of equivalent strength revealed positive effects of blocks when VBP was between 30% and 70%. Lastly, the findings indicate that blocks notably impact pre- and post-peak behaviors by reducing shear stiffness and inducing local hardening phases. This study also discusses the similarities and distinctions in the function of blocks within soil-like and rock-like matrices. It offers new insights into the exact role of blocks in bimrock shear behavior beyond the traditional interpretation through the variation of friction and cohesion.

Experimental analysis of the tensile behavior of concrete reinforced with Brazilian glass textile

In this study, the mechanical behavior of concrete structures reinforced with one and two layers of the Brazilian glass textile “AR-360” was verified through direct tensile tests. The analysis of the mechanical behavior of the structures was performed with stress-strain curves, evaluating the transition points of the formed stages, rupture mode, rupture stress and strain, as well as an analysis comparing experimental results with analytics. Regarding the results, there was a structural inability of the pieces reinforced with a layer of glass textile. In the samples in which reinforcement with two layers of the aforementioned material was evaluated, the three stages present in the stress-strain curves were correctly identified, as predicted in the literature for the structures evaluated.

Evaluating the strength characteristics of mixtures of municipal solid waste incineration bottom ash and reddish laterite clay for sustainable construction

This study examines effects of mixing municipal solid waste incineration bottom ash (MSWI-BA) with reddish laterite clay (RLC), evaluating factors such as vertical stress, mixing ratio, curing period, and the addition of lime. A total of 153 direct shear tests were conducted to thoroughly assess the mixture's strength characteristics. Vertical stress levels of 85.5 kPa, 172.4 kPa, and 259.3 kPa were used to simulate varying stress conditions, while mixing ratios of 40 %, 80 %, 100 %, and 120 % were applied to explore potential applications of recycled MSWI-BA with clayey soils. A fast-curing approach was employed, with curing periods of 24, 48, and 72 h, to investigate the time-dependent strength development under controlled conditions. A three-way ANOVA analysis confirmed that mixing ratio, curing period, and vertical stress significantly impacted both peak and residual shear strength. The 100 % MSWI-BA mixture, with or without 1 % lime, exhibited optimal performance, providing the pronounced shear strengths and dilative behavior. The study found that MSWI-BA significantly improved shear strength ratios compared to the RLC, with improvement ratios ranging from 1.439 to 2.460 across stress levels. Additionally, upper and lower bound equations for peak and residual strength ratios were developed, providing predictive tools for mixture design. Cohesion values in the range of 8.3–128.9 kPa and friction angles from 40.6° to 44.1° were achieved, surpassing or matching those reported in similar research. The study employed Bolton's (1986) dilatancy model, finding α values between 0.61 and 0.71, comparable to those in studies of granular materials. These results highlight the effectiveness of adding MSWI-BA and lime in enhancing reddish laterite soil stabilization through both chemical and mechanical means, making it a sustainable and cost-effective approach for civil engineering projects by improving material strength, reusing local soils, recycling waste, and reducing carbon footprints.

Diagnostic value of direct immunofluorescence testing in the evaluation of alopecia: A single-institution retrospective cohort study of 346 specimens

Diagnostic value of direct immunofluorescence testing in the evaluation of alopecia: A single-institution retrospective cohort study of 346 specimens

Assessment of concrete-to-concrete shear bond behavior using 3-D direct shear testing

The interfaces that develop when fresh concrete is poured onto existing substrates are noted for their vulnerability and influence on the durability and integrity of the composite structure. Studies on the shear bond properties and failure mechanisms of such composite concrete-to-concrete joints under normal stress are essential for developing predictive and numerical models that accommodate various levels of joint substrate roughness. This study aims to use an innovative 3D shearing box, BCR3D, to analyze the shear behavior of concrete-to-concrete joints under direct shear tests at a constant normal stress. The influence of the degree of surface roughness on the pure shear behavior of these joints was assessed at a normal stress level of 1 MPa. The substrate post-hardening surface morphology was evaluated using a high-resolution laser profilometer. Statistical surface roughness parameters were computed using MATLAB. A parametric study was carried out involving bond strength, residual shear stress, contractive-dilative behaviors, and total fracture energy. Results showed that bond strength, dilative normal displacement, and total fracture energy were proportional to the substrate surface roughness. Residual shear stress was not affected by the initial surface roughness. Dilative normal displacements were more significant for specimens with higher surface substrate roughness due to interlocking, with values reaching up to 1.77 mm. Joints with high substrate surface roughness exhibited similar bond strength and fracture energy to those obtained from the monolithic specimens, underscoring the significance of substrate preparation before casting new concrete layers.

Effect of medicated toothpastes and Tooth Mousse on cariogenic microbes of the oral cavity: An in vitro study.

Dental caries, commonly known as tooth decay is a widespread oral health problem mainly attributed to the activity of cariogenic bacteria, such as Streptococcus mutans and Lactobacillus species. Tooth Mousse, containing remineralizing agents, herbal and fluoride containing toothpaste with antimicrobial agents have been developed to target cariogenic bacteria. Herbal, fluoride toothpaste, and Tooth Mousse are commonly prescribed to prevent, reduce, and control dental caries. This study aims to analyze the effect of Tooth Mousse and medicated toothpastes on S. mutans and Lactobacillus acidophilus using direct contact test. L. acidophilus and S. mutans were cultured on Mueller-Hinton agar (MHA-Hi media) using sterile cotton swabs and plates were dried for 15 min. Toothpastes (Dabur Red, Pepsodent) and Tooth Mousse were used at 1:1 dilution using sterile pyrogen-free distilled water. Fifty microliter of toothpastes and Tooth Mousse were introduced into each well. The plates were incubated at 37°C for 24 h. The antimicrobial activity was evaluated by measuring the diameter of zones of inhibition (mm). The toothpaste containing fluoride (A) showed greater zone of inhibition compared to herbal toothpaste (B) whereas Tooth Mousse (C) did not show any zone of inhibition. Among herbal and fluoride toothpaste, fluoride containing toothpaste showed more zone of inhibition thereby attributing to its increased antimicrobial property on S. mutans and L. acidophilus.

Why animals construct helical burrows: Construction vs. post-construction benefits.

The extended phenotype of helical burrowing behavior in animals has evolved independently many times since the Cambrian explosion (~540 million years ago [MYA]). A number of hypotheses have been proposed to explain the evolution of helical burrowing in certain taxa, but no study has searched for a general explanation encompassing all taxa. We reviewed helical burrowing in both extant and extinct animals and from the trace fossil record and compiled 10 hypotheses for why animals construct helical burrows, including our own ideas. Of these, six are post-construction hypotheses-benefits to the creator or offspring, realized after burrow construction-and four are construction hypotheses reflecting direct benefits to the creator during construction. We examine the fit of these hypotheses to a total of 21 extant taxa and ichnotaxa representing 59-184 possible species. Only two hypotheses, antipredator and biomechanical advantage, cannot be rejected for any species (possible in 100% of taxa), but six of the hypotheses cannot be rejected for most species (possible in 86%-100% of taxa): microclimate buffer, reduced falling sediment (soil), anticrowding, and vertical patch. Four of these six are construction hypotheses, raising the possibility that helical burrowing may have evolved without providing post-construction benefits. Our analysis shows that increased drainage, deposit feeding, microbial farming, and offspring escape cannot explain helical burrowing behavior in the majority of taxa (5%-48%). Overall, the evidence does not support a general explanation for the evolution of helical burrowing in animals. The function and evolution of the helix as an extended phenotype seems to provide different advantages for different taxa in different environments under different physicochemical controls (some traces/tracemakers are discussed in more detail due to their association with body fossils and well-constrained physicochemical parameters). Although direct tests of many of the hypotheses would be difficult, we nevertheless offer ways to test some of the hypotheses for selected taxa.

Effectiveness of an Individualized Training Based on Dynamic Strength Index on Sprinting, Jumping and Change of Direction Performance in Basketball Players: A Randomized Controlled Trial.

The dynamic strength index (DSI) is calculated as the ratio between countermovement jump (CMJ) peak force and isometric mid-thigh pull (IMTP) peak force and is said to inform whether ballistic or strength training is warranted for a given athlete. This study assessed the impact of an individualized in-season resistance training program, guided by DSI on basketball players' physical performance. Forty-three elite players (19.4 ± 2.9 years; 1.97 ± 0.08 cm; 89.1 ± 9.5 kg) were divided into an intervention group (IG) (27 players) and a control group (CG) (16 players). The IG was further split based on DSI into a ballistic group (DSI ≤ 0.90, 11 players) and a strength group (DSI > 0.90, 16 players). Over five weeks, participants underwent two weekly resistance sessions, with the IG following a DSI-based program and the CG a standard program. Performance was measured pre- and post-intervention through 20-m sprints, 505 change of direction test, CMJ, and IMTP. There were statistically significant improvements in the IG, notably in sprint times (η2 = 0.12-0.21, p < 0.05) and 505 test (η2 = 0.15-0.16, p < 0.05), predominantly in the strength group. The CG's performance was either unchanged or declined for different variables. Our results suggest that DSI-guided training effectively enhances basketball players' physical performance within a competitive season.

Experimental and numerical investigations on rate-dependent fracture behavior of concrete-rock interface

To ensure the safety and stability of the concrete gravity dams built in the seismic regions, this study investigated the rate-dependent fracture behavior of the concrete-rock interfaces with different roughness degrees. Firstly, direct tensile tests and three-point bending tests were conducted to measure the mechanical and fracture properties of the concrete-rock interface with three roughness degrees, i.e. the 4 × 4 interface, natural interface, and 7 × 7 interface, and under four strain rates, i.e. 10-5/s, 10-4/s, 10-3/s, and 10-2/s. By employing the fictitious crack model and initial fracture toughness-based crack propagation criterion, numerical simulations were conducted to analyze the crack propagation processes of the concrete-rock interfaces under different strain rates. The results indicated that the tensile strength and initial fracture toughness exhibited an obvious increasing tendency with the increase of the strain rates, and they showed a nearly linear relationship with the logarithms of the strain rates. Prediction models were proposed to calculate the tensile strength and initial fracture toughness of the concrete-rock interface under different strain rates. In addition, the initial fracture toughness-based crack propagation criterion was proved to be applicable to analyze the crack propagation processes of the concrete-rock interfaces under both quasi-static and seismic strain rates. It was found that the fully-formed fracture process zone lengths and the corresponding crack length decreased obviously with the increase of the strain rates, indicating that the boundary effect of the concrete became stronger under the higher strain rates, which approached to the fracture behaviors of the large-size specimens.

Attempt to measure acoustic emission during direct shear tests on soil specimens containing plant root systems

Attempt to measure acoustic emission during direct shear tests on soil specimens containing plant root systems

Mechanical and Fatigue Properties of Welded Fe-Mn-Si Shape Memory Alloys.

This paper presents the experimental results of a study evaluating the mechanical and fatigue performance of welded Fe-Mn-Si SMA. For the experimental study, welded and welded-and-heat-treated Fe-Mn-Si SMA specimens were fabricated, and fatigue tests were performed at various stress amplitudes. In addition, direct tensile tests and recovery stress tests were also performed to evaluate the material properties of Fe-Mn-Si SMAs. The elastic modulus, yield strength, and tensile strength of the welded specimens were reduced by 35.4%, 12.1%, and 8.6%, respectively, compared to the values of the non-welded specimens. On the other hand, the elastic modulus, yield strength, and tensile strength of the welded-and-heat-treated Fe-Mn-Si SMA specimens were increased by 18.6%, 4.9%, and 1.3%, respectively, compared to the values of the welded specimens. Both welded and welded-and-heat-treated Fe-Mn-Si SMAs failed at lower cycles than the conventional Fe-Mn-Si SMAs at the same stress amplitude. High-cycle fatigue failure, characterized by cycles exceeding 104, typically occurs at relatively low stress levels within the elastic region, whereas low-cycle fatigue failure, generally occurring within cycles below 104, involves high stress levels that encompass both elastic and plastic deformation. Regardless of the welding condition, the stress amplitude at which Fe-Mn-Si SMA transitions from high-cycle to low-cycle failure exceeded the yield strength.

Potential of Current Direct Mechanical Testing Methods in Assessing Intraoperative Samples of Aortic Aneurysm Caused by Uncontrolled Arterial Hypertension

Potential of Current Direct Mechanical Testing Methods in Assessing Intraoperative Samples of Aortic Aneurysm Caused by Uncontrolled Arterial Hypertension

Spatio-temporal evolution law of anisotropic shear damage on rock mass joint surface affected by joint morphology

The spatial–temporal evolution law of shear damage on the joint surface is closely related to its morphological characteristics. Understanding the heterogeneous failure behavior of the joint surface is essential for revealing the controlling role of the joint morphology. The diorite from the Guanshan Tunnel is investigated through anisotropic direct shear tests in this study. Based on shear damage quantification and acoustic emission (AE) localization techniques, the heterogeneous damage evolution law of joint surfaces under different joint compression strength (JCS), normal stress (σn), and morphology parameter (M) is studied. The results indicate that the joint surface morphology, shear damage, and AE parameters exhibit similar anisotropic characteristics in different shear directions. An increase in the morphology parameter leads to an increase in shear failure, with shear fracture energy and the number of fracture events showing an increasing trend. Meanwhile, the occurrence of a large number of fracture points shifts from the pre-peak nonlinear period to the post-peak period. However, the evolution process of fracture events exhibits certain similarities, though the morphology parameters are different in two opposite shear directions. Additionally, shear damage volume and fracture energy demonstrate consistency in spatial distribution and quantitative characteristics, while the linear scale factor between cumulative shear fracture energy and damage volume decreases with increasing joint surface strength. These findings assist in a better understanding of the anti-sliding property of joint surfaces and provide crucial clues for further exploration of joint surface failure mechanisms.

PENGARUH STRUKTUR MODAL, UKURAN PERUSAHAAN DAN RISIKO BISNIS TERHADAP KEBIJAKAN DIVIDEN DENGAN PROFITABILITAS SEBAGAI VARIABEL INTERVENING PADA PERUSAHAAN MANUFAKTUR SEKTOR INDUSTRI DASAR DAN KIMIA YANG TERDAFTAR DI BEI

Companies in the basic and chemical industry sector are manufacturing companies that convert raw materials into semi-finished products. This study aims to determine the Influence of Capital Structure, Company Size and Business Risk on Dividend Policy with Profitability as an Intervening Variable in Manufacturing Companies in the Basic and Chemical Industry Sector Listed on the IDX. This research method uses a quantitative method. Data analysis and hypothesis testing in this study used the Structural Equation Model-Partial Least Square (PLS-SEM). The results of the direct influence hypothesis test using the Smart PLS3 3.0 application show that the capital structure has a negative but not significant effect on profitability. The size of the company has a potential but not significant effect on profitability. Business risk has a significant positive effect on profitability. Capital structure has a negative but not significant effect on dividend policy. The size of the company has a positive but not significant effect on the dividend policy. Business risk has a positive but insignificant effect on dividend policy. Profitability has a positive but not significant effect on dividend policy. Capital structure has a negative but insignificant effect on dividend policy through profitability. Company size has a positive but insignificant effect on dividend policy through profitability. Business risk has a positive but insignificant effect on dividends through profitability.

PENGARUH KOMPETENSI, PENGALAMAN KERJA DAN TUNJANGAN TERHADAP EFEKTIVITAS KERJA KARYAWAN MELALUI SEMANGAT KERJA SEBAGAI VARIABEL INTERVENING (STUDY KASUS PT FAJAR INSAN NUSANTARA DENPASAR-BALI)

The aim of this research is to analyze and test the influence of Competence, Work Experience, and Allowances on the Work Effectiveness of employees at PT. Fajar Insan Nusantara Bali through Work Spirit. The population in this study consists of employees of PT. Fajar Insan Nusantara Bali. The sampling technique used is quota sampling. Data analysis and hypothesis testing in this research were conducted using the Structural Equation Model – Partial Least Square (PLS-SEM) method. The results of the direct influence hypothesis test using the Smart PLS 3.0 application show that competence has a positive but not significant effect on work spirit, work experience has a negative and significant effect on work spirit, and allowances have a negative and significant effect on work spirit. Competence has a significant negative effect on work effectiveness, work experience has a positive but not significant effect on work effectiveness, and allowances have a positive but not significant effect on work effectiveness. Work spirit has a positive and significant effect on work effectiveness. The indirect influence of competence on work effectiveness through work spirit is positive but not significant, while work experience has a negative and significant effect on work effectiveness through work spirit, and allowances have a negative and significant effect on work effectiveness through work spirit.

MED13L-related disorder characterized by severe motor speech impairment.

MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, language, motor, cognitive, and adaptive phenotypes of individuals with MED13L-related disorder. In this cross-sectional study, we administered standardized articulation, language, motor, and cognitive testing to 17 children and adolescents (mean age 9y 9m; SD 4y 5m; range 4y 2m to 19y 7m). In-person testing was supplemented with broad developmental, medical, and behavioral information collected virtually from a cohort of 67 individuals. All individuals who completed in-person articulation testing met diagnostic criteria for speech apraxia, dysarthria, or both. Language impairment was present in all of the in-person cohort and almost all (97%) of the virtual cohort. Those who were able to complete motor testing demonstrated significant deficits in visual motor integration (mean 57.08, SD 9.26). Full scale IQs fell in the borderline to intellectual disability range, consistent with reported cognitive impairment in 97% of the virtual cohort. Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). MED13L-related disorder is characterized by a high rate of motor speech disorders that occur in the context of globally impaired motor, language, and cognitive skills. Children would benefit from intensive, individualized speech therapy and the early adoption of augmentative communication strategies.

Predictably manipulating photoreceptor light responses to reveal their role in downstream visual responses.

Computation in neural circuits relies on the judicious use of nonlinear circuit components. In many cases, multiple nonlinear components work collectively to control circuit outputs. Separating the contributions of these different components is difficult, and this limits our understanding of the mechanistic basis of many important computations. Here, we introduce a tool that permits the design of light stimuli that predictably alter rod and cone phototransduction currents - including stimuli that compensate for nonlinear properties such as light adaptation. This tool, based on well-established models for the rod and cone phototransduction cascade, permits the separation of nonlinearities in phototransduction from those in downstream circuits. This will allow, for example, direct tests of how adaptation in rod and cone phototransduction affects downstream visual signals and perception.