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Objectives: This study investigated the effectiveness of a specialized manual physical therapy (PT) program at improving voice among patients diagnosed with concomitant muscle tension dysphonia (MTD) and cervicalgia at a tertiary care voice center. Materials and Methods: Cervicalgia was determined by palpation of the anterior neck. Both voice therapy (VT) and PT was recommended for all patients diagnosed with MTD and cervicalgia. PT included full-body manual physical therapy with myofascial release. Patients underwent: 1) VT alone, 2) concurrent PT and VT (PT with VT), 3) PT alone, 4) VT, but did not have PT ordered by treating clinician (VT without PT order) or 5) VT followed by PT (VT then PT). The pairwise difference in post–Voice Handicap Index-10 (VHI-10) controlling for baseline variables was calculated with a linear regression model. Results: 178 patients met criteria. All groups showed improvement with treatment. The covariate-adjusted differences in mean post–VHI-10 improvement comparing the VT alone group as a reference were as follows: PT with VT 9.95 (95% confidence interval 7.70, 12.20); PT alone 8.31 (6.16, 10.45); VT without PT order 8.51 (5.55, 11.47); VT then PT 5.47 (2.51, 8.42). Conclusion: Among patients diagnosed with MTD with cervicalgia, treatment with a specialized PT program was associated with improvement in VHI-10 scores regardless of whether they had VT. While VT is the standard of care for MTD, PT may also offer benefit for MTD patients with cervicalgia. [ABSTRACT FROM AUTHOR]

Simple Summary: Certain genetic changes, called driver mutations, can affect how uveal melanoma progresses and spreads. We reviewed and combined data from 13 studies to better understand these effects. A mutation in the BAP1 gene significantly increases the risk of metastatic disease. Other mutations in GNAQ, GNA11, or SF3B1 did not show a similar risk. The prognosis of uveal melanoma is significantly influenced by the risk of metastasis, which varies according to clinical and genetic features. Driver mutations can predict the likelihood of disease progression and survival, although the data in the literature are inconsistent. This meta-analysis aimed to evaluate the prognostic significance of driver mutations, including GNAQ, GNA11, BAP1, and SF3B1, in the advancement of uveal melanoma. A comprehensive search of databases yielded relevant studies, and data from 13 studies (848 eyes) were synthesized to assess the impact of these mutations on metastasis-free survival. The BAP1 mutation and negative immunohistochemistry were associated with a higher risk of metastasis (logHR = 1.44, 95% CI 1.05–1.83). GNAQ, GNA11, and SF3B1 mutations did not show a significant increase in risk. In summary, BAP1 has proven to reliably predict the likelihood of disease progression in uveal melanoma, while further studies are needed to establish the significance of other driver mutations. [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]

Objectives: A small number of Idiopathic subglottic stenosis (iSGS) patients are treated at institutions across the country. Divergence in operative techniques for endoscopic dilation (ED) of iSGS has been anecdotally recognized but not formally characterized. Additionally, the relationship between procedural variation and clinical outcome has not been studied. Methods: Secondary analysis of the NoAAC iSGS1000 cohort investigated variation in procedural techniques and treatment outcomes in patients treated with ED across high‐enrolling treatment centers (enrolled >10 patients in PR‐02 trial). Results: Thirteen NoAAC centers each enrolled >10 patients treated with ED for a total of 281 subjects. There was significant variation in procedural details and rate of recurrence among institutions. Hierarchal cluster analysis revealed significant heterogeneity among institutions and clusters in all procedural variables. However, analysis demonstrated a transient delay in disease recurrence in cluster 2 which disappeared with longer longitudinal follow‐up. Patient‐reported outcome and peak expiratory flow data supported the potential benefit of the technical variation in Cluster 2. Distinct to cluster 2, however, was routine use of adjuvant triple medical therapy (proton pump inhibitor (PPI), antibacterial agent, and steroid inhaler). Conclusions: Both outcome and procedural technique vary among centers employing ED to treat iSGS. A transient delay in recurrence was observed among centers that routinely prescribed adjuvant medical therapy (antibiotic, inhaled corticosteroid, and PPI) to iSGS patients after endoscopic dilation, which was further supported by patient‐reported data and peak expiratory flow data. Prospective studies are needed to understand the effects of adjuvant medical therapy on recurrence after endoscopic dilation. Level of Evidence: 4 Laryngoscope, 134:3260–3266, 2024 [ABSTRACT FROM AUTHOR]

Purpose: Diagnosing pediatric induced laryngeal obstruction (ILO) requires equipment typically available in specialist settings, and patients often see multiple providers before a diagnosis is determined. This study examined the financial burden associated with the diagnosis and treatment of ILO in pediatric patients with reference to socioeconomic disadvantage. Methods: Adolescents and children (<18 years of age) diagnosed with ILO were identified through the University of Madison Voice and Swallow Outcomes Database. Procedures, office visits, and prescribed medications were collected from the electronic medical record. Expenditures were calculated for two time periods (1) pre‐diagnosis (first dyspnea‐related visit to diagnosis), and (2) the first year following diagnosis. The Area Deprivation Index (ADI) was used to estimate patient socioeconomic status to determine if costs differed with neighborhood‐level disadvantage. Results: A total of 113 patients met inclusion criteria (13.9 years, 79% female). Total pre‐diagnosis costs of ILO averaged $6486.93 (SD = $6604.14, median = $3845.66) and post‐diagnosis costs averaged $2067.69 (SD = $2322.78; median = $1384.12). Patients underwent a mean of 3.01 (SD = 1.9; median = 2) procedures and 5.8 (SD = 4.7; median = 5) office visits prior to diagnosis. Pharmaceutical, procedure/office visit, and indirect costs significantly decreased following diagnosis. Patients living in neighborhoods with greater socioeconomic disadvantage underwent fewer procedures and were prescribed more medication than those from more affluent areas. However, total expenditures did not differ based on ADI. Conclusions: Pediatric ILO is associated with considerable financial costs. The source of these costs, however, differed according to socioeconomic advantage. Future work should determine how ILO diagnosis and management can be more efficient and equitable across all patients. Laryngoscope, 134:3384–3390, 2024 [ABSTRACT FROM AUTHOR]

Physiological disorders impact the yield and quality of marketable fruit in tomato. Puffy fruit caused by cavities inside the locule can be problematic for processing and fresh market quality. In this paper, we used a recombinant inbred line (RIL) and three derived processing tomato populations to map and validate quantitative trait loci (QTLs) for fruit puffiness across environments. Binary interval mapping was used for mapping the incidence of fruit puffiness, and non-parametric interval mapping and parametric composite interval mapping were used for mapping severity. Marker–trait regressions were carried out to validate putative QTLs in subsequent crosses. QTLs were detected on chromosome (Chr) 1, 2, and 4. Only the QTL on Chr 1 was validated in progeny from subsequent crosses. This QTL explained up to 22.5% of the variance in the percentage of puffy fruit, with a significant interaction between loci on Chr 2 and 4, increasing the percentage of puffy fruit by an additional 15%. The allele responsible for puffy fruit on Chr 1 was inherited from parent FG02-188 and was dominant towards increased incidence and severity. Marker-assisted selection (MAS) for the QTL on Chr 1 was as efficient as genomic selection (GS) in reducing the incidence and severity of puffy fruit, despite the potential contribution of other loci. [ABSTRACT FROM AUTHOR]

Improving feed suitability and bolstering the global upsurge in fish production is a strategic challenge for aquaculture. The utilization of plant and animal derived ingredients in aquafeed for achieving sustainable in finfish aquaculture is affected by various factors, including the presence of antinutritional factors, lowered nutrient bioavailability, indigestible particles and microbial contaminants. Applying fermentation to overcome these problems in aquafeed ingredients has received considerable attention in recent years as fermentation provides health‐promoting probiotic benefits to host organisms. Fermentation has also been shown in many studies to improve nutrient availability and bioavailability of feed, increased palatability and digestibility and eliminate anti‐nutritional compounds in dietary feed ingredients, making them more easily digestible which eventually improve growth and health performance of fish. Therefore, it is imperative to accelerate the use of fermented feedstuffs as aquafeed if sustainable aquaculture is to be achieved. This review reported the various methods of fermentation, characteristics of fermented feed ingredients, factors that are considered during fermentation and overall nutritional quality of fermented feed ingredients for aquaculture production. The role of fermented feed ingredients for various farmed species in terms of growth, feed utilization, gut microbiota composition, immunity and disease resistance in fish is thoroughly discussed. The possible drawbacks associated with the fermentation process are also discussed in the article. [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]

Determining the macronutrient requirements for commercially valuable aquaculture species remains crucial for maximising production efficiency. Yet, such information is lacking for Australian hybrid abalone (Haliotis rubra × Haliotis laevigata), particularly with respect to life stage and water temperatures. The present study aimed to evaluate the effect of dietary protein inclusion level on the growth performance, nutrient utilisation and nutritional quality of juvenile (3·3 g) Australian hybrid abalone reared at three different temperatures representative of winter (12°C), average annual (17°C) and summer (22°C) grow-out periods and fed five diets containing graded dietary protein levels of 35, 38, 41, 44 and 47 %. Abalone growth increased with increasing water temperature with weight gains of approximately 100, 280 and 380 % of their initial weight at 12, 17 and 22°C, respectively. Furthermore, the present study clearly demonstrated that higher dietary protein inclusion levels (41 %) than those currently used commercially (35 %) would significantly improve the growth performance when water temperatures are ≥17°C without any adverse impacts on nutrient utilisation, nutrient deposition or nutritional quality of the abalone soft tissue. For example, at 22°C abalone fed a diet containing 41 % protein obtained a significantly higher weight gain percentage (421 %) compared with those fed a diet containing 35 % protein (356 %). Lastly, it is suggested that maintaining a dietary protein inclusion level of 35 % or implementing a 'least cost' feeding approach during cooler seasons, or where water temperatures are ∼12°C, may be beneficial, considering only marginal growth improvements were observed during these periods of slow growth. [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]

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]

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]

Objective: Idiopathic subglottic stenosis (iSGS) is a rare, recurrent, fibroinflammatory disease affecting the larynx and proximal trachea. Given it occurs primarily in adult females, estrogen is speculated to play a central pathophysiological role. This study aimed to evaluate relationships between estrogen exposure, disease progression, and recurrence. Methods: North American Airway Collaborative (NoAAC) data of adults with iSGS obstructive airway lesions, who underwent index endoscopic airway dilation, were used to identify associations between estrogen exposure, disease characteristics, and time to recurrence (TTR), and interventions were analyzed using Kruskal–Wallis test and Pearson coefficient. Cox proportional hazards regression models compared hazard ratios by estrogen exposure. Kaplan–Meier curves were plotted for TTR based on menopausal status. Results: In all, 533 females had complete estrogen data (33% premenopausal, 17% perimenopausal, 50% postmenopausal). Median estrogen exposure was 28 years. Overall, there was no dose–response relationship between estrogen exposure and disease recurrence. Premenopausal patients had significantly shorter time from symptom manifestation to diagnosis (1.17 vs. 1.42 years perimenopausal vs. 2.08 years postmenopausal, p < 0.001), shorter time from diagnosis to index endoscopic airway dilation (1.90 vs. 2.50 vs. 3.76 years, p = 0.005), and higher number of procedures (1.73 vs. 1.20 vs. 1.08 procedures, p < 0.001). Conclusions: We demonstrate premenopausal patients may have a more aggressive disease variant than their peri‐ and postmenopausal counterparts. However, it is unclear as to whether this is related to reduced estrogen in the peri‐ and postmenopausal states or the age‐related physiology of wound healing and inflammation, regardless of estrogen. Level of Evidence: 3 Laryngoscope, 134:825–830, 2024 [ABSTRACT FROM AUTHOR]

Objective: Idiopathic subglottic stenosis is a rare disease, and time to diagnosis is often prolonged. In the United States, some estimate it takes an average of 9 years for patients with similar rare disease to be diagnosed. Patient experience during this period is termed the diagnostic odyssey. The aim of this study is to use qualitative methods grounded in behavioral‐ecological conceptual frameworks to identify drivers of diagnostic odyssey length that can help inform efforts to improve health care for iSGS patients. Methods: Qualitative study using semi‐structured interviews. Setting consisted of participants who were recruited from those enrolled in a large, prospective multicenter trial. We use directed content analysis to analyze qualitative semi‐structured interviews with iSGS patients focusing on their pathways to diagnosis. Results: Overall, 30 patients with iSGS underwent semi‐structured interviews. The patient‐reported median time to diagnosis was 21 months. On average, the participants visited four different health care providers. Specialists were most likely to make an appropriate referral to otolaryngology that ended in diagnosis. However, when primary care providers referred to otolaryngology, patients experienced a shorter diagnostic odyssey. The most important behavioral‐ecological factors in accelerating diagnosis were strong social support for the patient and providers' willingness to refer. Conclusion: Several factors affected time to diagnosis for iSGS patients. Patient social capital was a catalyst in decreasing time to diagnosis. Patient‐reported medical paternalism and gatekeeping limited specialty care referrals extended diagnostic odysseys. Additional research is needed to understand the effect of patient–provider and provider–provider relationships on time to diagnosis for patients with iSGS. Level of Evidence: 4 Laryngoscope, 134:815–824, 2024 [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]

Utilising novel ingredients in aquafeeds is necessary for the continued expansion and intensification of aquaculture production. Microalgae are utilised widely in aquaculture for a variety of purposes; as live feed for fish and shellfish larvae and juveniles, for the production of algae‐based meals and oils to replace marine derived raw materials in aquafeeds, and for the production of astaxanthin, the carotenoid that gives salmon flesh its characteristic reddish colour. Notably, long‐chain polyunsaturated fatty acids, amino acids, proteins, fibres, antioxidant pigments, vitamins and minerals are among the compounds in microalgae with great biological value. A growing collection of experimental data has demonstrated that these substances are crucial for increasing larval survival and enhancing the growth and well‐being of fish and shellfish. In this review, the processing of microalgae utilised as aquafeed ingredient, the health promoting compounds in microalgae and their role in growth, immunity and disease resistance of fish and shellfish are described and discussed. Simultaneously, major hurdles in the commercial use of microalgae in aquafeed, and future research and development perspectives are all critically discussed. [ABSTRACT FROM AUTHOR]

Background: The use of thyroid ultrasound increases yearly, adding to costs and overdetection of clinically irrelevant nodules. We investigated which indications most commonly prompt referral for thyroid ultrasound and the diagnostic utility by indication. Methods: We performed a retrospective observational cohort study of adults (≥18 years) undergoing an initial dedicated thyroid ultrasound between 2017 and 2019 at a tertiary academic center. Indicated reasons for referral were categorized into suspected palpable nodule (SPN), compressive symptoms (CS), metabolic symptoms (MS), screening due to high-risk factors, follow-up of incidental finding on other imaging, and combination of factors. Percentage of ultrasounds with an identifiable nodule and with a nodule recommended for biopsy was compared by indication. Separate logistic regression models were used to identify factors associated with finding any nodule and a biopsy-recommended nodule. Results: Among the 1739 patients included, the most common indication for thyroid ultrasound was SPN (40%), followed by incidental imaging (28%), CS (13%), combination (11%), MS (6%), and high-risk factors (2%). Overall, 62% of ultrasounds identified a nodule. Ultrasounds performed for incidental findings had the highest rate of nodule identification (94%), compared with 55%, 39%, and 43%, for SPN, CS, and MS, respectively (p < 0.05). Only 27% of ultrasounds identified a biopsy-recommended nodule. Nodules found incidentally had the highest rate of biopsy-recommended nodules at 55%. Rates of biopsy-recommended nodules for SPN, CS, and MS were 21%, 6%, and 10%, respectively. Logistic regression demonstrated that compared with patients referred for an SPN, those with incidental nodules were 10 times more likely to have a nodule found on ultrasound (odds ratio [OR] = 10.6 [CI 7.0–16.0]), while those referred for CS were half as likely to have a nodule (OR = 0.5 [CI 0.4–0.7]). Similar factors were associated with identification of biopsy-recommended nodules. Conclusions: Of all new dedicated thyroid ultrasounds, only a quarter find biopsy-recommended nodules, and nearly 40% do not identify a nodule at all. Notably, only 55% of ultrasounds done for SPN found a nodule. Ultrasound for CS and MS had the lowest rates of detecting nodules. Providing clear guidance on when to order thyroid ultrasounds can help reduce unnecessary health care utilization and potential overtreatment. [ABSTRACT FROM AUTHOR]

Seaweed, also known as macroalgae, represents a vast resource that can be categorized into three taxonomic groups: Rhodophyta (red), Chlorophyta (green), and Phaeophyceae (brown). They are a good source of essential nutrients such as proteins, minerals, vitamins, and omega-3 fatty acids. Seaweed also contains a wide range of functional metabolites, including polyphenols, polysaccharides, and pigments. This study comprehensively discusses seaweed and seaweed-derived metabolites and their potential as a functional feed ingredient in aquafeed for aquaculture production. Past research has discussed the nutritional role of seaweed in promoting the growth performance of fish, but their effects on immune response and gut health in fish have received considerably less attention in the published literature. Existing research, however, has demonstrated that dietary seaweed and seaweed-based metabolite supplementation positively impact the antioxidant status, disease resistance, and stress response in fish. Additionally, seaweed supplementation can promote the growth of beneficial bacteria and inhibit the proliferation of harmful bacteria, thereby improving gut health and nutrient absorption in fish. Nevertheless, an important balance remains between dietary seaweed inclusion level and the resultant metabolic alteration in fish. This review highlights the current state of knowledge and the associated importance of continued research endeavors regarding seaweed and seaweed-based functional metabolites as potential modulators of growth, immune and antioxidant response, and gut microbiota composition in fish. [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]

Informal business activity is ubiquitous around the world, but it is nearly always uncaptured by administrative data, registries, or commercial sources. For this reason, there are rarely adequate sampling frames available for survey implementers wishing to measure the activity and characteristics of the sector. This article applies a well-established sampling method for rare and/or clustered populations, Adaptive Cluster Sampling (ACS), to a novel population of informal businesses. Generally, it shows that efficiency gains through the application of ACS, when compared to Simple Random Sampling (SRS), are large, particularly at higher levels of fieldwork effort. In particular, ACS efficiency gains over SRS remain sizable at higher values of initial starting samples, but with comparatively high expansion thresholds, which can reduce the fieldwork effort. [ABSTRACT FROM AUTHOR]

Background/Objectives: As surgical techniques evolve, there remains underutilisation of secondary intention healing as a valid reconstruction option. This is largely due to concerns regarding inferiority of wound cosmesis, increased downtime with wound healing and infection risk (Dermatol Surg. 2020; 46(12): 1492–97). Methods: We sought to look at the outcome of secondary intention healing in a cohort of patients seen at a private dermatology practice with small to medium sized scalp defects. All patients completed a satisfaction survey that further evaluated its feasibility. Results: Excellent cosmetic outcome was noted with secondary intention healing for small to medium scalp defects, specifically in patients with thinning scalps that allowed healing without patchy alopecia. Conclusions: Secondary intention healing should be considered as a reconstructive option for scalp defects, especially in the right patient cohort. [ABSTRACT FROM AUTHOR]

Twice-exceptionality (2e), broadly defined as the co-occurrence of a gift or talent and a disability, has been a part of the educational lexicon since the 1990s, although its empirical backing is limited. We conducted a comprehensive review of the empirical literature on 2e and created a simulation study of 2e. For the latter, we constructed population distribution functions that represent indicators of ability using a range of correlations and identification criteria guided by the reviewed literature. We observed the theoretical occurrence of 2e, even at its most relaxed definitions, to be much rarer than prevailing literature implies (probability = 0.148). As correlations and factor loadings increase, the prevalence estimates of 2e drop considerably. Our results demonstrated the need for a more informed, standardized, and quantifiable approach to the identification of individuals with 2e. [ABSTRACT FROM AUTHOR]

Objectives: Serial intralesional steroid injection (SILSI) has been increasingly used to treat idiopathic subglottic stenosis (iSGS). Prior studies have shown effectiveness, but not in all patients. This multi‐institutional study evaluates the effect of SILSI on time to recurrent operation, peak expiratory flow (PEF), and dyspnea. Methods: Post‐hoc secondary analysis of the North American Airway Collaborative data were performed to evaluate the outcomes of iSGS patients undergoing and not undergoing SILSI. The primary outcome was time to recurrent operation, evaluated using Kaplan–Meier curves and Cox regression analysis. Secondary outcomes were change in PEF and clinical chronic obstructive pulmonary disease questionnaire (CCQ) score. Within patients undergoing SILSI, demographics, time from last procedure, and PEF at initiation of SILSI were evaluated to determine the effect on recurrence. Results: Two hundred and ninety patients were included, 238 undergoing endoscopic dilation alone and 52 undergoing dilation and SILSI. No differences in baseline characteristics were observed. There was no difference in time to recurrence (hazard ratio: 0.64; p = 0.183). There were no differences in PEF or CCQ across the 2.5‐year study period. Among 52 patients undergoing SILSI, PEF at the time of starting SILSI did not affect recurrence (χ2 = 0.09, p = 0.77). Conclusion: Patients undergoing and not undergoing SILSI had similar times to recurrence, PEF, and CCQ. Factors predicting recurrence among patients undergoing SILSI were not identified. These results support a randomized controlled trial with a uniform SILSI protocol to quantify the effects of SILSI on objective and subjective outcomes and help determine which iSGS patients benefit most. Level of Evidence: 3 Laryngoscope, 133:2255–2263, 2023 [ABSTRACT FROM AUTHOR]

Genetics researchers increasingly combine data across many sources to increase power and to conduct analyses that cross multiple individual studies. However, there is often a lack of alignment on outcome measures when the same constructs are examined across studies. This inhibits comparison across individual studies and may impact the findings from meta-analysis. Using a well-characterized genotypic (brain-derived neurotrophic factor: BDNF) and phenotypic constructs (working memory and reading comprehension), we employ an approach called Rosetta, which allows for the simultaneous examination of primary studies that employ related but incompletely overlapping data. We examined four studies of BDNF, working memory, and reading comprehension with a combined sample size of 1711 participants. Although the correlation between working memory and reading comprehension over all participants was high, as expected (ρ = 0.45), the correlation between working memory and reading comprehension was attenuated in the BDNF Met/Met genotype group (ρ = 0.18, n.s.) but not in the Val/Val (ρ = 0.44) or Val/Met (ρ = 0.41) groups. These findings indicate that Met/Met carriers may be a unique and robustly defined subgroup in terms of memory and reading comprehension. This study demonstrates the utility of the Rosetta method when examining complex phenotypes across multiple studies, including psychiatric genetic studies, as shown here, and also for the mega-analysis of cohorts generally. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to examine changes in English and Spanish morphosyntactic standardized scores over time in bilingual children. Method: One hundred bilingual children participated in this longitudinal study. The average age of the children at the beginning of the study was 5;11 (years;months). A subset of the participants was identified as children with developmental language disorder (DLD, n = 43). Children completed behavioral testing in Spanish and English at three time points over a period of 2 years. Growth curve modeling was employed to analyze longitudinal data. Results: Distinct patterns of Spanish and English language growth were observed. While the average standard score in English increased, the average score in Spanish decreased over time for both groups. Children with DLD showed persistent language difficulties in both Spanish and English over time in comparison to their peers. Conclusions: The results of this study provide evidence of a shift in language proficiency from Spanish to English for bilingual children with and without language disorders. This study also shows that bilingual children with DLD show a protracted but parallel growth in morphosyntactic skills in comparison to children without DLD. [ABSTRACT FROM AUTHOR]

This article provides an overview of several recordings of Baroque music. It includes Antonio Vivaldi's "Le Quattro Stagioni" performed by Apollo's Fire, J.S. Bach's lost trio sonatas reconstructed by NeoBarock, Mauro D'Alay's violin concertos performed by Reale Concerto, solo violin pieces from the Klagenfurt manuscript performed by Peter Sheppard Skærved, French flageolet music performed by La Simphonie du Marais, and a compilation of Vivaldi's works performed by Ensemble Toulouse. [Extracted from the article]

This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55–199 CGGs), and X inactivation in blood and brain tissues at the 3′ boundary of the FMR1 promoter. Blood was analyzed from 95 controls and 462 individuals (32% males) with FM and PM alleles. Brain tissues (62% males) were analyzed from 12 controls and 4 with FXS. There was a significant increase in intron 1 methylation, extending to a newly defined 3′ epigenetic boundary in the FM compared with that in the control and PM groups (p < 0.0001), and this was consistent between the blood and brain tissues. A distinct intron 2 site showed a significant decrease in methylation for the FXS groups compared with the controls in both sexes (p < 0.01). In all female groups, most intron 1 (but not intron 2 sites) were sensitive to X inactivation. In all PM groups, methylation at the 3′ epigenetic boundary and the proximal sites was significantly decreased compared with that in the control and FM groups (p < 0.0001). In conclusion, abnormal FMR1 intron 1 and 2 methylation that was sensitive to X inactivation in the blood and brain tissues provided a novel avenue for the detection of PM and FM alleles through DNA methylation analysis. [ABSTRACT FROM AUTHOR]

The aims of this review are to describe the role of 'blue‐food production' (animals, plants and algae harvested from freshwater and marine environments) within a circular bioeconomy, discuss how such a framework can help the sustainability and resilience of aquaculture and to summarise key examples of novel nutrient sources that are emerging in the field of fed‐aquaculture species. Aquaculture now provides >50% of the global seafood supply, a share that is expected to increase to at least 60% within the next decade. Aquaculture is an important tool for reducing resource consumption in global protein production and increasing resilience to climate change and other global disruptions (i.e. pandemics, geo‐political instability). Importantly, blue foods also provide essential nutrition for a growing human population. Blue foods are helping to help the global goal of 'zero hunger' (United Nation's Sustainable Development Goal 2) while reducing the dependency on finite natural resources but further refinement and new solutions are needed to make the industry more 'circular' and sustainable, particularly with respect to sourcing raw materials for aquafeeds. This review describes the feed resources that are available or may be created within a circular bioeconomy framework, their role within the framework and in aquaculture and ultimately, how these resources contribute to de‐risking and establishing a resilient aquaculture production chain. [ABSTRACT FROM AUTHOR]

Objective: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX‐DEE, and investigated genotype–phenotype correlations, particularly with regard to survival. Methods: We studied 13 patients from 12 families with WWOX‐DEE. Information regarding seizure semiology, comorbidities, facial dysmorphisms, and disease outcome were collected. Electroencephalographic (EEG) and brain magnetic resonance imaging (MRI) data were analyzed. Pathogenic WWOX variants from our cohort and the literature were coded as either null or missense, allowing individuals to be classified into one of three genotype classes: (1) null/null, (2) null/missense, (3) missense/missense. Differences in survival outcome were estimated using the Kaplan–Meier method. Results: All patients experienced multiple seizure types (median onset = 5 weeks, range = 1 day–10 months), the most frequent being focal (85%), epileptic spasms (77%), and tonic seizures (69%). Ictal EEG recordings in six of 13 patients showed tonic (n = 5), myoclonic (n = 2), epileptic spasms (n = 2), focal (n = 1), and migrating focal (n = 1) seizures. Interictal EEGs demonstrated slow background activity with multifocal discharges, predominantly over frontal or temporo‐occipital regions. Eleven of 13 patients had a movement disorder, most frequently dystonia. Brain MRIs revealed severe frontotemporal, hippocampal, and optic atrophy, thin corpus callosum, and white matter signal abnormalities. Pathogenic variants were located throughout WWOX and comprised both missense and null changes including five copy number variants (four deletions, one duplication). Survival analyses showed that patients with two null variants are at higher mortality risk (p‐value =.0085, log‐rank test). Significance: Biallelic WWOX pathogenic variants cause an early infantile developmental and epileptic encephalopathy syndrome. The most common seizure types are focal seizures and epileptic spasms. Mortality risk is associated with mutation type; patients with biallelic null WWOX pathogenic variants have significantly lower survival probability compared to those carrying at least one presumed hypomorphic missense pathogenic variant. [ABSTRACT FROM AUTHOR]

Aims: By analysing cattle‐ and sheep‐grazed sand grasslands, we tested the following hypotheses: (i) livestock type has a stronger effect on the vegetation characteristics than grazing intensity; (ii) sheep grazing results in lower biomass and species and functional diversity than cattle grazing, regardless of intensity; and (iii) increased grazing intensity causes a shift of the trait composition in grasslands. Location: Sand grasslands in the Nyírség region, East Hungary. Methods: We selected 26 sand grassland sites grazed by cattle or sheep and classified them into four intensity levels. Vegetation composition was surveyed in 2 m × 2 m plots. We harvested the above‐ground biomass from 20 cm × 20 cm plots; then dried and sorted it to live biomass, litter, moss, and lichen. We compared Rao dissimilarity index, species richness, Shannon diversity, evenness, and the community‐weighted means of nine vegetative and generative traits along a grazing intensity gradient. We calculated functional richness, evenness, and divergence for comparison. Results: We found that some diversity metrics and community‐weighted means of most studied traits were significantly affected by grazing intensity. Several characteristics were also affected by the interaction of grazing intensity and livestock type, but none of the studied characteristics was affected by livestock type in itself. Increasing Rao dissimilarity index peaking at the fourth grazing intensity level was detected, but for other multitrait indices, no such changes were proven, except for functional divergence, which was the lowest at the first intensity level. Graminoid, forb, and litter biomass were significantly affected by intensity, but none of the biomass fractions was affected by livestock type. Conclusions: We suggest that for the management of sand grasslands, grazing intensity should be carefully adjusted, considering not only livestock units per hectare. For practical recommendations, well‐defined, long‐term experiments studying different livestock and habitat types along an intensity gradient would be essential. [ABSTRACT FROM AUTHOR]

Epiretinal membrane (ERM) formation is a known postoperative complication following retinal detachment (RD) repair surgery. Prophylactic peeling of the internal limiting membrane (ILM) during surgery has been shown to reduce the risk of developing postoperative ERM formation. Some baseline characteristics and degrees of surgical complexity may act as risk factors for ERM development. In this review we aimed to investigate the benefit of ILM peeling in patients without significant proliferative vitreoretinopathy (PVR) who underwent pars plana vitrectomy for RD repair. A literature search using PubMed and various keywords retrieved relevant papers from which data were extracted and analyzed. Finally, the results of 12 observational studies (3420 eyes) were summarized. ILM peeling significantly reduced the risk of postoperative ERM formation (RR = 0.12, 95% CI 0.05–0.28). The groups did not differ in final visual acuity (SMD 0.14 logMAR (95% CI − 0.03–0.31)). The risk of RD recurrence (RR = 0.51, 95% CI 0.28–0.94) and the need for secondary ERM surgery (RR = 0.05, 95% CI 0.02–0.17) were also higher in the non-ILM peeling groups. In summary, although prophylactic ILM peeling appears to reduce the rate of postoperative ERM, this benefit does not translate into consistent visual recovery across studies and potential complications must be considered. [ABSTRACT FROM AUTHOR]

Australian abalone aquaculture is characterised by a prolonged culture period and slow and variable growth, and abalone is cultured in fluctuating water temperatures ranging between 10 and 25°C with distinct seasons. Temperature is a crucial environmental factor influencing abalone's physiology and energetics, leading to a change in nutritional requirements. However, feeds are generally formulated to match the nutritional requirements at their optimal temperature. Hence, there is a need to optimise dietary protein levels to match temperature-specific requirements during extreme conditions (winter and summer). Given this, a growth trial evaluating five experimental feeds consisting of graded protein inclusion levels (320, 350, 380, 410, and 440 g·kg−1) was conducted on subadult hybrid abalone (Haliotis rubra × H. laevigata) at three different temperatures reflecting winter (12°C), summer (22°C), and the annual average water temperature (17°C) for 143 days. At lower water temperature (12°C), there was a marginal improvement in growth performance as dietary protein levels increased from 320 to 440 g·kg−1. However, at higher water temperatures (when the culture water temperature is above 17°C), there was a significant improvement in growth performance as dietary protein levels increased from 320 to 440 g·kg−1 as evidenced by an improved weight gain, specific growth rate, and feed conversion ratio. Furthermore, increasing dietary protein levels did not compromise the nutritional quality of the abalone tissue at all three tested temperatures. Therefore, during periods of higher water temperatures, feeding Australian hybrid abalone with a relatively high dietary protein level (410 g·kg−1) is expected to result in improved growth, shorter culture duration, and profit maximisation. [ABSTRACT FROM AUTHOR]

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility. This study examined relationships between FMR1 methylation in different tissues with FMR1 messenger ribonucleic acid (mRNA) and intellectual functioning in 87 males with FXS (1.89–43.17 years of age). Methylation sensitive Southern blot (mSB) and Methylation Specific‐Quantitative Melt Aanalysis (MS‐QMA) were used to examine FMR1 methylation. FMR1 mRNA levels in blood showed strong relationships with FMR1 methylation assessed using MS‐QMA in blood (n = 68; R2 = 0.597; p = 1.4 × 10−10) and buccal epithelial cells (BEC) (n = 62; R2 = 0.24; p = 0.003), with these measures also showing relationships with intellectual functioning scores (p < 0.01). However, these relationships were not as strong for mSB, with ~40% of males with only FM alleles that were 100% methylated and non‐mosaic by mSB, showing methylation mosaicism by MS‐QMA. This was confirmed through presence of detectable levels of FMR1 mRNA in blood. In summary, FMR1 methylation levels in blood and BEC examined by MS‐QMA were significantly associated with FMR1 mRNA levels and intellectual functioning in males with FXS. These relationships were not as strong for mSB, which underestimated prevalence of mosaicism. [ABSTRACT FROM AUTHOR]

Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to understand the similarity of imaging phenotypes between pairs. Reading-related genes and brain region phenotypes, including asymmetry indices representing the relative size of left compared to right hemispheric structures, were descriptively examined. SNPs that corresponded between the SRD siblings and not the typically developing (TD) siblings were in genes ZNF385D, LPHN3, CNTNAP2, FGF18, NOP9, CMIP, MYO18B, and RBFOX2. Imaging phenotypes were similar among all sibling pairs for grey matter volume and surface area, but cortical thickness in reading-related regions of interest (ROIs) was more similar among the siblings with SRD, followed by the twins, and then the TD twin and older siblings, suggesting cortical thickness may differentiate risk for this family. The siblings with SRD had more symmetry of cortical thickness in the transverse temporal and superior temporal gyri, while the TD sibling had greater rightward asymmetry. The TD sibling had a greater leftward asymmetry of grey matter volume and cortical surface area in the fusiform, supramarginal, and transverse temporal gyrus. This exploratory study demonstrated that reading-related risk factors appeared to correspond with SRD within this family, suggesting that early examination of biological factors may benefit early identification. Future studies may benefit from the use of polygenic risk scores or machine learning to better understand SRD risk. [ABSTRACT FROM AUTHOR]

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Among bilinguals, language-related variables such as first and second language proficiency and balance may be related to important cognitive and academic outcomes, but approaches to characterizing these variables are inconsistent, particularly among at-risk samples of children. The current study employed comprehensive language assessment of English and Spanish language skills and contrasted various approaches to the characterization of language among at-risk ELs in middle school (N = 161). Specifically, we contrasted variable-centered and person-centered approaches, and convergence between objective and self-report measures. Findings support a two-factor structure of English and Spanish language skills in this population, three profiles of students (balanced, moderately unbalanced-higher Spanish, and very unbalanced-higher English), convergence between variable-centered and person-centered approaches, and mixed support for subjective indices of usage. Results provide a foundation from which to examine the roles of L1 and L2 proficiency as well as balance in important cognitive and academic outcomes in this at-risk and understudied population. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to quantitatively compare the effectiveness of unilateral and bilateral botulinum toxin A (BTX‐A) injections for mitigating undesirable weak/breathy voice quality and dysphagia for patients with adductor spasmodic dysphonia and/or essential tremor of voice (ETV). Methods: Data were collected from the medical records of 319 patients, yielding three treatment cohorts: patients who received an equal dose bilateral injection regimen (BL=) throughout their course of treatment at VUMC, patients who switched to a unilateral injection regimen (UL), and patients who switched to an unequal dose bilateral injection regimen (BL≠). Changes in length of improvement, duration of weak/breathy voice, and dysphagia severity were compared. Results: The BL = treatment group reported the longest duration of improved voice. Shorter periods of improved voice were reported at baseline by patients who later switched to UL or BL ≠ injection regimens. Patients receiving UL injections reported significantly reduced weak/breathy voice and dysphagia. Patients receiving BL ≠ injections reported increased length of improved voice; however, dysphagia symptoms increased. Ninety‐two percent of patients with ETV switched to a UL regimen, with 61% of patients transitioning within the first three injections. Conclusions: Patients with pronounced dysphagia and extended periods of weak/breathy voice may benefit from a UL injection approach to mitigate side effects from BTX‐A without sacrificing improved voice outcomes. For patients seeking to extend their length of improved voice, a BL ≠ injection regimen may be effective provided the adverse side effects from BTX‐A are minimal. Patients with ETV may benefit from a UL injection approach at the outset of their course of treatment with BTX‐A. Level of evidence: III. [ABSTRACT FROM AUTHOR]

Context: It is not known how underlying subclinical papillary thyroid cancer (PTC) differs by age. This meta-analysis of autopsy studies investigates how subclinical PTC prevalence changes over the lifetime. Methods: We searched PubMed, Embase, and Web of Science databases from inception to May 2021 for studies that reported the prevalence of PTC found at autopsy. Two investigators extracted the number of subclinical PTCs detected in selected age groups and extent of examination. A quality assessment tool was used to assess bias. Logistic regression models with random intercepts were used to pool the age-specific subclinical PTC prevalence estimates. Results: Of 1773 studies screened, 16 studies with age-specific data met the inclusion criteria (n = 6286 autopsies). The pooled subclinical PTC prevalence was 12.9% (95% CI 7.8-16.8) in whole gland and 4.6% (2.5-6.6) in partial gland examination. Age-specific prevalence estimates were =40 years, 11.5% (6.8-16.1); 41-60 years, 12.1% (7.6-16.5); 61-80 years, 12.7% (8-17.5); and 81+ years, 13.4% (7.9-18.9). Sex did not affect agespecific prevalence and there was no difference in prevalence between men and women in any age group. In the regression model, the OR of prevalence increasing by age group was 1.06 (0.92-1.2, P = .37). Conclusion: This meta-analysis shows the prevalence of subclinical PTC is stable across the lifespan. There is not a higher subclinical PTC prevalence in middle age, in contrast to higher observed incidence rates in this age group. These findings offer unique insights into the prevalence of subclinical PTC and its relationship to age. [ABSTRACT FROM AUTHOR]

The gut transit rate of ingested feed in fish affects the utilization of dietary nutrients; however, the influence of water temperature, remains underexplored in Atlantic salmon (Salmo salar). The present study quantified the gut transit rate of four distinct regions of the gastrointestinal tract (stomach, pyloric caeca, small and large intestine) of post‐smolt Atlantic salmon at two temperatures; 11 and 20°C, by feeding fish a diet incorporated with Ballotini beads. A determination of relative and total bead density in each region was assessed for 48 h, post‐feeding. A clear inverse relationship in bead density between the stomach and large intestine was recorded at both temperatures. However, fish subjected to 20°C recorded a faster gut transit rate compared to fish at 11°C in both the stomach and large intestine. The pyloric caeca and small intestine transit rate appeared unaffected by temperature. The present study re‐iterates the positive relationship between temperature and gut transit rate and also the critical function of the stomach in controlling gut transit rate in gastric fish. This information may be used to improve dietary strategies aimed at enhancing nutrient utilization through increased understanding of the gut transit rate in commercially important fish species. [ABSTRACT FROM AUTHOR]

Background Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals. Aim We share the lessons learnt from the first 3 years of the Undiagnosed Diseases Program-Victoria, an Australian programme embedded within a clinical genetics service in the state of Victoria with a focus on paediatric rare diseases. Methods We enrolled families who remained without a diagnosis after clinical genomic (panel, exome or genome) sequencing between 2016 and 2018. We used family-based exome sequencing (family ES), family-based genome sequencing (family GS), RNA sequencing (RNA-seq) and high-resolution chromosomal microarray (CMA) with research-based analysis. Results In 150 families, we achieved a diagnosis or strong candidate in 64 (42.7%) (37 in known genes with a consistent phenotype, 3 in known genes with a novel phenotype and 24 in novel disease genes). Fifty-four diagnoses or strong candidates were made by family ES, six by family GS with RNA-seq, two by high-resolution CMA and two by data reanalysis. Conclusion We share our lessons learnt from the programme. Flexible implementation of multiple strategies allowed for scalability and response to the availability of new technologies. Broad implementation of family ES with research-based analysis showed promising yields post a negative clinical singleton ES. RNA-seq offered multiple benefits in family ES-negative populations. International data sharing strategies were critical in facilitating collaborations to establish novel disease-gene associations. Finally, the integrated approach of a multiskilled, multidisciplinary team was fundamental to having diverse perspectives and strategic decision-making.A [ABSTRACT FROM AUTHOR]