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Critical genes involved in embryonic development are often transcription factors, regulating many downstream genes. LMX1B is a homeobox gene that is involved in formation of the limbs, eyes and kidneys, heterozygous loss‐of‐function sequence variants and deletions cause Nail‐Patella syndrome. Most of the reported variants are localised within the gene's coding sequence, however, approximately 5%–10% of affected individuals do not have a pathogenic variant identified within this region. In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B‐binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail‐Patella phenotype that includes ophthalmological and renal manifestations. [ABSTRACT FROM AUTHOR]

To report a rare case of keratitis due to monkeypox infection. A 45-year-old male presented with an epithelial corneal ulcer 20 days following initial diagnosis of monkeypox from genital and perioral lesions. PCR analysis of the epithelium confirmed the presence of human monkeypox virus. The patient was hospitalized, and ganciclovir gel, as well as povidone iodine 0.6% and moxifloxacin eyedrops were prescribed. Oral tecovirimat 600 mg was administered during 14 days. A therapeutic contact lens was used. Twenty days after the initial diagnosis of keratitis, the corneal defect closed leaving a faint subepithelial haze, and visual acuity was 0.8. This is an uncommon case report of epithelial keratitis due to human monkeypox. PCR positivity for monkeypox in the corneal epithelium confirmed the presence of viral material in the cornea. [ABSTRACT FROM AUTHOR]

Zebra-stem of tomato is a disorder characterized by leaf necrosis, wilting, and a stripped pattern on stems of mature plants. Wilting, necrosis, and death of seedlings are also observed. The physiological and genetic causes of zebra-stem are poorly characterized. Anecdotal evidence has suggested pedigrees with S. pimpinellifolium and bacterial speck resistance in the genetic background are often prone to this disorder. We demonstrate a genetic cause using composite interval mapping and association analysis approaches to define quantitative trait loci (QTLs) that contribute to the disorder. A biparental population of F4 partially inbred families was developed for the initial analysis, and four subsequent backcross or F2 populations were used for subsequent validation. Significant QTLs on chromosomes 5 and 10 were identified, explaining ~60% and 40% of the variation, respectively. Polymorphisms in the Pto locus are strongly associated with the QTL on chromosome 5. The two loci were derived from different parentage, and a significant interaction effect was demonstrated, resulting in the characteristic zebra-stem symptoms when combined. [ABSTRACT FROM AUTHOR]

Seaweeds are rich in essential dietary minerals, often lacking in terrestrial plant foods, with interest in Australian seaweeds rapidly increasing. We screened six Australian brown seaweeds with commercial potential for dietary mineral composition: Cystophora torulosa, Caulocystis uvifera, Durvillaea potatorum, Ecklonia radiata, Hormosira banksii and Phyllospora comosa. Spatial replicates of each species were collected from three non-urbanised sites remote from pollution sources and processed for human consumption. Dried samples were analysed by inductively coupled plasma mass spectrometry (ICP-MS) for 12 essential dietary minerals. Overall dietary mineral composition differed significantly amongst all species, except between sargassaceous species C. torulosa and C. uvifera; but concentrations of individual elements varied in complex ways. All species investigated had high concentrations of dietary minerals essential for optimal human health if consumed in realistic quantities (e.g. 10 g day−1 DW) as part of balanced diets, including the most common dietary minerals deficient in humans (iodine, iron, zinc, magnesium, calcium and selenium): iodine (888 ± 100 mg kg−1 DW) and zinc were highest in P. comosa; iron and calcium were highest in C. torulosa, but calcium was also high in E. radiata, H. banksii and D. potatorum; magnesium was highest in H. banksii, D. potatorum and P. comosa; selenium concentrations exceeded those previously reported for seaweeds for all species, except D. potatorum. The best nutritional outcomes may be achieved by regularly consumption of a diversity of seaweed species. However, further investigation into ways to reduce iodine content in some species may be required to maximise health benefits from regular consumption of these Australian seaweeds. [ABSTRACT FROM AUTHOR]

Prior research supports the need for elementary-aged students with reading difficulties (RDs) to receive explicit systematic small-group evidence-based reading instruction. Yet for many students, simply receiving evidence-based reading instruction in a small-group setting is insufficient to reach the progress milestones needed to meet grade-level reading standards. The current study examined whether (a) elementary school students with RD constitute homogeneous or heterogeneous groups when considering their basic language and cognitive skills (using a latent profile analysis) and (b) latent profiles are predictive of response to reading comprehension instruction (using a mixed modeling approach). The sample consisted of 335 students, including students with RD and typical students (n = 57). The results revealed heterogeneity within students with RD—there were two distinct profiles, with one having higher basic language (reading fluency and decoding) and cognitive (verbal domain productivity, cognitive flexibility, and working memory) skills and lower attention skills and the other having stronger attention skills and lower basic language and cognitive skills. The findings also suggested that latent profiles were predictive of response to reading comprehension instruction. Our results provide a convincing argument for leading the field in the direction of developing customized interventions. It is conceivable, but remains to be further examined, that researchers and educators could potentially improve reading outcomes through providing a customized reading intervention to a student based on their cognitive–language profile. Educational Impact and Implications Statement: Although there are a few studies that previously classified students with reading difficulties into latent profiles using broadly conceptualized language and reading skills, there are no studies that simultaneously used cognitive–language skills, including attention, to examine heterogeneity among elementary school students with reading difficulties. Furthermore, there are no studies that investigated latent profiles as predictors of the response to instruction. In this study, we identified two distinct profiles, with one having higher basic language and cognitive skills and lower attention skills and the other having stronger attention skills and lower basic language and cognitive skills. The results suggested that latent profiles were predictive of response to reading instruction. Our findings expand what is known about customized interventions—it is conceivable that researchers and educators who consider the cognitive–language profiles of students may provide more responsive instruction and bring about improved student outcomes. [ABSTRACT FROM AUTHOR]

There are many aspects of words that can influence our lexical processing, and the words we are exposed to influence our opportunities for language and reading development. The purpose of this study is to establish a more comprehensive understanding of the lexical challenges and opportunities students face. We explore the latent relationships of word features across three established word lists: the General Service List, Academic Word List, and discipline-specific word lists from the Academic Vocabulary List. We fit exploratory factor models using 22 non-behavioral, empirical measures to three sets of vocabulary words: 2,060 high-frequency words, 1,051 general academic words, and 3,413 domain-specific words. We found Frequency, Complexity, Proximity, Polysemy, and Diversity were largely stable factors across the sets of high-frequency and general academic words, but that the challenge facing learners is structurally different for domain-specific words. Despite substantial stability, there are important differences in the latent lexical features that learners encounter. We discuss these results and provide our latent factor estimates for words in our sample. [ABSTRACT FROM AUTHOR]

In the first years of life, infants progressively develop attention selection skills to gather information from visually clustered environments. As young as newborns, infants are sensitive to the distinguished differences in color, orientation, and luminance, which are the components of visual saliency. However, we know little about how saliency-driven attention emerges and develops socially through everyday free-viewing experiences. The present work assessed the saliency change in infants' egocentric scenes and investigated the impacts of manual engagements on infant object looking in the interactive context of object play. Thirty parent-infant dyads, including infants in two age groups (younger: 3- to 6-month-old; older: 9- to 12-month-old), completed a brief session of object play. Infants' looking behaviors were recorded by the head-mounted eye-tracking gear, and both parents' and infants' manual actions on objects were annotated separately for analyses. The present findings revealed distinct attention mechanisms that underlie the hand-eye coordination between parents and infants and within infants during object play: younger infants are predominantly biased toward the characteristics of the visual saliency accompanying the parent's handled actions on the objects; on the other hand, older infants gradually employed more attention to the object, regardless of the saliency in view, as they gained more self-generated manual actions. Taken together, the present work highlights the tight coordination between visual experiences and sensorimotor competence and proposes a novel dyadic pathway to sustained attention that social sensitivity to parents' hands emerges through saliency-driven attention, preparing infants to focus, follow, and steadily track moving targets in free-flow viewing activities. [ABSTRACT FROM AUTHOR]

This study examined the initial efficacy of World Generation (WorldGen), a Tier I social studies instructional approach for emergent bilingual (EB) students and their native English‐speaking (non‐EB) peers in Grades 6 and 7. WorldGen builds on prior research on instructional practices that have been associated with improved content knowledge and literacy outcomes for EBs in classes of students with varying English proficiency. Using a within‐teacher design, middle grades world history teachers' classes were randomly assigned to WorldGen treatment (17) or comparison conditions (16) for three to four approximately two‐week units. The student sample included 42% EBs. Students in the treatment condition (n = 373) scored higher, on average, on world history content (Hedges' g = 0.47) and vocabulary knowledge (Hedges' g = 0.41) than students in the comparison condition (n = 343) but no statistically significant findings were yielded regarding disciplinary literacy skills at the end of WorldGen instruction. Of primary interest, the statistically significant main effects indicated that world history content knowledge and vocabulary learning was similar for both current EB and non‐EB students in the treatment condition. The findings provide initial support for the use of the WorldGen instructional practices for improving content acquisition and vocabulary in general education social studies classes with students with a range of English proficiency. Furthermore, teachers perceived the WorldGen instructional practices and materials as providing the information and learning experiences necessary to support students in meeting grade‐level expectations. [ABSTRACT FROM AUTHOR]

Thyroid cancer incidence increased over 200% from 1992 to 2018, whereas mortality rates had not increased proportionately. The increased incidence has been attributed primarily to the detection of subclinical disease, raising important questions related to thyroid cancer control. We developed the Papillary Thyroid Carcinoma Microsimulation model (PATCAM) to answer them, including the impact of overdiagnosis on thyroid cancer incidence. PATCAM simulates individuals from age 15 until death in birth cohorts starting from 1975 using 4 inter-related components, including natural history, detection, post-diagnosis, and other-cause mortality. PATCAM was built using high-quality data and calibrated against observed age-, sex-, and stage-specific incidence in the United States as reported by the Surveillance, Epidemiology, and End Results database. PATCAM was validated against US thyroid cancer mortality and 3 active surveillance studies, including the largest and longest running thyroid cancer active surveillance cohort in the world (from Japan) and 2 from the United States. PATCAM successfully replicated age- and stage-specific papillary thyroid cancers (PTC) incidence and mean tumor size at diagnosis and PTC mortality in the United States between 1975 and 2015. PATCAM accurately predicted the proportion of tumors that grew more than 3 mm and 5 mm in 5 years and 10 years, aligning with the 95% confidence intervals of the reported rates from active surveillance studies in most cases. PATCAM successfully reproduced observed US thyroid cancer incidence and mortality over time and was externally validated. PATCAM can be used to identify factors that influence the detection of subclinical PTCs. • This study used high-quality data sources and rigorous calibration to develop, to our knowledge, the first cross-population microsimulation model to replicate thyroid cancer epidemiology in the United States over time. • This study demonstrated the use of a stakeholder advisory board comprising patients, providers, policymakers, and researchers in building an epidemiologic microsimulation model. • This study successfully explained the drastic increase in the incidence of thyroid cancer since the 1990s through modeling of changing diagnostic pathways over time. [ABSTRACT FROM AUTHOR]

Neuromodulation through implantable pulse generators (IPGs) represents an important treatment approach for neurological disorders. While the field has observed the success of state-of-the-art interventions, such as deep brain stimulation (DBS) or responsive neurostimulation (RNS), implantable systems face various technical challenges, including the restriction of recording from a limited number of brain sites, power management, and limited external access to the assessed neural data in a continuous fashion. To the best of our knowledge, for the first time in this study, we investigated the feasibility of recording human intracranial EEG (iEEG) using a benchtop version of the Brain Interchange (BIC) unit of CorTec, which is a portable, wireless, and externally powered implant with sensing and stimulation capabilities. We developed a MATLAB/SIMULINK-based rapid prototyping environment and a graphical user interface (GUI) to acquire and visualize the iEEG captured from all 32 channels of the BIC unit. We recorded prolonged iEEG (~ 24 h) from three human subjects with externalized depth leads using the BIC and commercially available clinical amplifiers simultaneously in the epilepsy monitoring unit (EMU). The iEEG signal quality of both streams was compared, and the results demonstrated a comparable power spectral density (PSD) in all the systems in the low-frequency band (< 80 Hz). However, notable differences were primarily observed above 100 Hz, where the clinical amplifiers were associated with lower noise floor (BIC-17 dB vs. clinical amplifiers < − 25 dB). We employed an established spike detector to assess and compare the spike rates in each iEEG stream. We observed over 90% conformity between the spikes rates and their spatial distribution captured with BIC and clinical systems. Additionally, we quantified the packet loss characteristic in the iEEG signal during the wireless data transfer and conducted a series of simulations to compare the performance of different interpolation methods for recovering the missing packets in signals at different frequency bands. We noted that simple linear interpolation has the potential to recover the signal and reduce the noise floor with modest packet loss levels reaching up to 10%. Overall, our results indicate that while tethered clinical amplifiers exhibited noticeably better noise floor above 80 Hz, epileptic spikes can still be detected successfully in the iEEG recorded with the externally powered wireless BIC unit opening the road for future closed-loop neuromodulation applications with continuous access to brain activity. [ABSTRACT FROM AUTHOR]

SUMMARY: By conducting hierarchical clustering along a sliding window, we generated haplotypes across hundreds of re‐sequenced genomes in a few hours. We leveraged our method to define cryptic introgressions underlying disease resistance in tomato (Solanum lycopersicum L.) and to discover resistant germplasm in the tomato seed bank. The genomes of 9 accessions with early blight (Alternaria linariae) disease resistance were newly sequenced and analyzed together with published sequences for 770 tomato and wild species accessions, most of which are available in germplasm collections. Identification of common ancestral haplotypes among resistant germplasm enabled rapid fine mapping of recently discovered quantitative trait loci (QTL) conferring resistance and the identification of possible causal variants. The source of the early blight QTL EB‐9 was traced to a vintage tomato named 'Devon Surprise'. Another QTL, EB‐5, as well as resistance to bacterial spot disease (Xanthomonas spp.), was traced to Hawaii 7998. A genomic survey of all accessions forecasted EB‐9‐derived resistance in several heirloom tomatoes, accessions of S. lycopersicum var. cerasiforme, and S. pimpinellifolium PI 37009. Our haplotype‐based predictions were validated by screening the accessions against the causal pathogen. There was little evidence of EB‐5 prevalence in surveyed contemporary germplasm, presenting an opportunity to bolster tomato disease resistance by adding this rare locus. Our work demonstrates practical insights that can be derived from the efficient processing of large genome‐scale datasets, including rapid functional prediction of disease resistance QTL in diverse genetic backgrounds. Finally, our work finds more efficient ways to leverage public genetic resources for crop improvement. Significance Statement: We introduce a powerful windowed haplotype classification method that can efficiently detect local homology across genomes and predict biological traits in germplasm. We co‐analyzed hundreds of genomic sequences to define and predict introgressions conferring resistance to early blight disease of tomato. These predictions were validated in planta with pathology experiments, demonstrating the functional prediction of quantitative resistance of breeding and research significance. Our haplotype clustering and prediction method is broadly applicable to crops with large genomic datasets. [ABSTRACT FROM AUTHOR]

[Display omitted] • Biomarkers to identify and quantify carbon contributors to sequestration are needed. • Use of complete sets of fatty acid (FA) profiles are novel to biomarker discovery. • XGBoost models of FA profiles discriminated seaweed carbon from other sources. • High predictive accuracies of this biomarker approach may facilitate quantification. • Quantifying seaweed contributions to blue carbon sequestration may soon be feasible. Differentiating between carbon contributors in marine environments is crucial to gaining a deeper understanding of marine carbon sequestration, and some efforts have been made through the application of various approaches. This study proposed a new approach through the use of fatty acid (FA) profiles of six marine macrophytes within three macroalgal lineages, and three coastal angiosperms (mangrove, saltmarsh, and seagrass). We compiled FA profiles (consisting of 84 individuals and 9 classes/groups of FAs) of 544 Australian coastal macrophyte species identified in published reports. The data were gradually screened into three different datasets (full-84FA, reduced-57FA, and reduced-48FA) for analysis to minimise the effects of imbalanced distributions of data on analysis. XGBoost (eXtreme Gradient Boosting) multiclass classification modelling with hyperparameter tuning was applied to reveal the specific FA signatures of each macrophyte lineage. The XGBoost models run across the three datasets generated high model-performance metrics including precision, recall, F-score, and multiclass-AUC, indicating similar performance between the three models with predictive accuracies of 94%, 85%, and 95%, respectively. At the class level, the three models also demonstrated high performance with precision, recall, and F-score values for each lineage above 0.95, except for Rhodophyta, which ranged from around 0.80 to 0.89. Overall, our findings suggest that the XGBoost classifier can reveal the lineage-specific patterns of FAs (carbon-based molecules) that can be implemented to predict and potentially quantify the carbon contributors to marine sediments, and more specifically, to discern macroalgal carbon contributions from those of other coastal macrophytes. [ABSTRACT FROM AUTHOR]

The mucosal surfaces of fish, including their intestines, gills, and skin, are constantly exposed to various environmental threats, such as water quality fluctuations, pollutants, and pathogens. However, various cells and microbiota closely associated with these surfaces work in tandem to create a functional protective barrier against these conditions. Recent research has shown that incorporating specific feed ingredients into fish diets can significantly boost their mucosal and general immune response. Among the various ingredients being investigated, insect meal has emerged as one of the most promising options, owing to its high protein content and immunomodulatory properties. By positively influencing the structure and function of mucosal surfaces, insect meal (IM) has the potential to enhance the overall immune status of fish. This review provides a comprehensive overview of the potential benefits of incorporating IM into aquafeed as a feed ingredient for augmenting the mucosal immune response of fish. [ABSTRACT FROM AUTHOR]

Understanding the physiological responses of abalone to culture conditions and nutritional inputs is paramount to maintain optimal performance under densely stocked farming conditions. High water temperature (>24 °C) is widely accepted as a key contributor to elevated summer mortality. High crude protein levels in modern abalone diets may interact with elevated water temperature to produce detrimental effects on abalone physiological processes but have received scant attention. This study measured the energy used in the digestion, absorption, and assimilation (i.e., specific dynamic action (SDA)) of hybrid abalone (Haliotis laevigata x H. rubra) after four months of acclimation to three protein levels (32, 38 and 44%) at three culture temperatures (12, 17 and 22 °C). Hybrid abalone exhibited significant stepwise increases in meal size as temperature increased from 12 through to 22 °C, contributing to significantly different SDA between the temperature treatments. Resting (standard) aerobic metabolic rate and peak metabolism (peak M ̇ O 2) during SDA both increased with temperature, while SDA duration was lowest at 17 °C. No effect of dietary protein was observed within the temperature treatments for the SDA metrics. Abalone held at 12 °C exhibited significantly higher rates of gonad maturation, particularly among females. When 22 °C-acclimated abalone were exposed to a simulated summer heatwave up to 26 °C, they exhibited similar mortality and metabolic responses across protein treatment groups and there was a trend of steadily decreasing M ̇ O 2 with sustained 26 °C water temperature, probably due to fasting. These results help to inform best farming practices to ensure optimal diet, growth, metabolic performance, and survival of hybrid abalone in the dynamic farm environment. • Formulated diet protein in the range of 320 g/kg to 440 g/kg has little impact on SDA metabolic rates. • SDA metabolic rates increase with temperature, with implications for seasonal performance. • No evidence suggesting that increased dietary protein is associated with metabolic stress. • Significantly different metabolic rates and behaviour noted in grouped and individual abalone. • Low temperature correlated with increased gonad maturation despite significantly smaller size. [ABSTRACT FROM AUTHOR]

Current research on lipid nutrition in farmed fish has primarily focused on the nutritional, biochemical, biomolecular, and physiological aspects of n-3 LC-PUFA, with limited knowledge available on the interrelationships amongst different dietary fatty acids. This study aimed to evaluate the effects of individual dietary fatty acids (FA) on the metabolism of omega-3 fatty acids in juvenile Atlantic salmon. Specifically, the study investigated the relationships between omega-3 fatty acids and other individual dietary fatty acids characterised by different chain lengths but the same level of unsaturation (lauric acid, 12:0; palmitic acid, 16:0; and stearic acid, 18:0), and different degrees of unsaturation but the same chain length (stearic acid, 18:0; oleic acid, 18:1n-9; and linoleic acid, 18:2n-6). Diets rich in n-3 LC-PUFA or alpha-linolenic acid (ALA, 18:3n-3) were used to explore possible interactions and nutritional relationships. The experiment followed a five by two factorial design, with a total of 10 experimental dietary treatments fed to triplicate groups of fish (n = 3, N = 30). Five diets were formulated with minimal n-3 LC-PUFA content and abundant ALA content (referred to as "ALA diets"), while the other five diets had minimal ALA content and abundant n-3 LC-PUFA content (referred to as "n-3 LC-PUFA diets"). Within each dietary group, the five experimental diets were isoproteic, isolipidic, and isoenergetic. They were formulated to spike the concentration of a single FA while maintaining a constant supply of all other FA across all diets. The selected FA used to formulate the experimental diets were 12:0, 16:0, 18:0, 18:1n-9, or 18:2n-6. The feeding trial lasted 92 days, during which all treatments resulted in fish growth exceeding 300% of their initial body weight. Chemical composition analysis, fatty acid apparent metabolism, and selected gene transcription were performed on the samples to monitor the main nutritional, biochemical, biomolecular, and physiological outcomes. The most interesting and unexpected finding was the identification of a direct link between the physical properties of dietary fatty acids, particularly their melting point, and the resulting changes in omega-3 fatty acid metabolic patterns. This study demonstrated, for the first time, that the melting point of dietary fatty acids plays a crucial role in regulating omega-3 fatty acid metabolism in Atlantic salmon. It is envisioned that this discovery could open new possibilities for future advancements in lipid nutrition for aquaculture species. • Further optimizing omega-3 metabolism in salmon nutrition is crucial for long-term sustainability of the sector. • Here, it was described how different dietary fatty acids affect the metabolism of dietary omega-3. • First-time discovery: Dietary fatty acid melting point regulates omega-3 metabolism. [ABSTRACT FROM AUTHOR]