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A National Trauma Research Action Plan identified the involvement of burn survivors as critical informants to determine the direction of research. This study employed a web-based survey to identify care gaps in a sample of burn survivors. We surveyed burn survivors from around the United States through social media and email contact with the Phoenix Society for Burn Survivors. We elicited demographic info, burn history, and unmet needs. Statistical analysis was performed to test our hypothesis that lack of access to mental health support/professionals would be identified as an unmet need in long-term burn survivors. Of 178 survey respondents, most were at least 10 years removed from the date of their burn injury (n= 94, 53%). Compared with those less than 3 years from their burn injury, individuals greater than 10 years were at least 5 times more likely to note a lack of access to mental health support [11–20 years OR 8.7, P< .001; >20 years OR 5.7, P= .001]. About 60% of Spanish speakers reported lack of support group access was among their greatest unmet needs, compared with 37% of English speakers (P= .184). This study highlights the need for ongoing access to mental health resources in burn survivors. Our findings emphasize that burn injury is not just an acute ailment, but a complex condition that evolves into a chronic disease. Additional studies should focus on the experiences of Spanish-speaking burn survivors, given small sample size leading to a likely clinically significant but not statistically different lack of access to support groups.

IMPORTANCE: Primary open-angle glaucoma (POAG) is a highly heritable disease, with 127 identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful measure of aggregate genetic burden and improve patient risk stratification. OBJECTIVE: To assess whether a PRS improves prediction of POAG onset in patients with ocular hypertension. DESIGN, SETTING, AND PARTICIPANTS: This was a post hoc analysis of the Ocular Hypertension Treatment Study. Data were collected from 22 US sites with a mean (SD) follow-up of 14.0 (6.9) years. A total of 1636 participants were followed up from February 1994 to December 2008; 1077 participants were enrolled in an ancillary genetics study, of which 1009 met criteria for this analysis. PRS was calculated using summary statistics from the largest cross-ancestry POAG meta-analysis, with weights trained using 8 813 496 variants from 449 186 cross-ancestry participants in the UK Biobank. Data were analyzed from July 2022 to December 2023. EXPOSURES: From February 1994 to June 2002, participants were randomized to either topical intraocular pressure–lowering medication or close observation. After June 2002, both groups received medication. MAIN OUTCOMES AND MEASURES: Outcome measures were hazard ratios for POAG onset. Concordance index and time-dependent areas under the receiver operating characteristic curve were used to compare the predictive performance of multivariable Cox proportional hazards models. RESULTS: Of 1009 included participants, 562 (55.7%) were female, and the mean (SD) age was 55.9 (9.3) years. The mean (SD) PRS was significantly higher for 350 POAG converters (0.24 [0.95]) compared with 659 nonconverters (−0.12 [1.00]) (P &lt; .001). POAG risk increased 1.36% (95% CI, 1.08-1.64) with each higher PRS decile, with conversion ranging from 9.52% (95% CI, 7.09-11.95) in the lowest PRS decile to 21.81% (95% CI, 19.37-24.25) in the highest decile. Comparison of low-risk and high-risk PRS tertiles showed a 2.0-fold increase in 20-year POAG risk for participants of European and African ancestries. In the subgroup randomized to delayed treatment, each increase in PRS decile was associated with a 0.52-year (95% CI, 0.01-1.03) decrease in age at diagnosis (P = .047). No significant linear association between PRS and age at POAG diagnosis was present in the early treatment group. Prediction models significantly improved with the addition of PRS as a covariate (C index = 0.77) compared with the Ocular Hypertension Treatment Study baseline model (C index = 0.75) (P &lt; .001). Each 1-SD higher PRS conferred a mean hazard ratio of 1.25 (95% CI, 1.13-1.44) for POAG onset. CONCLUSIONS AND RELEVANCE: Higher PRS was associated with increased risk for POAG in patients with ocular hypertension. The inclusion of a PRS improved the prediction of POAG onset. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT00000125

IMPORTANCE: Large language models (LLMs) are revolutionizing medical diagnosis and treatment, offering unprecedented accuracy and ease surpassing conventional search engines. Their integration into medical assistance programs will become pivotal for ophthalmologists as an adjunct for practicing evidence-based medicine. Therefore, the diagnostic and treatment accuracy of LLM-generated responses compared with fellowship-trained ophthalmologists can help assess their accuracy and validate their potential utility in ophthalmic subspecialties. OBJECTIVE: To compare the diagnostic accuracy and comprehensiveness of responses from an LLM chatbot with those of fellowship-trained glaucoma and retina specialists on ophthalmological questions and real patient case management. DESIGN, SETTING, AND PARTICIPANTS: This comparative cross-sectional study recruited 15 participants aged 31 to 67 years, including 12 attending physicians and 3 senior trainees, from eye clinics affiliated with the Department of Ophthalmology at Icahn School of Medicine at Mount Sinai, New York, New York. Glaucoma and retina questions (10 of each type) were randomly selected from the American Academy of Ophthalmology’s commonly asked questions Ask an Ophthalmologist. Deidentified glaucoma and retinal cases (10 of each type) were randomly selected from ophthalmology patients seen at Icahn School of Medicine at Mount Sinai–affiliated clinics. The LLM used was GPT-4 (version dated May 12, 2023). Data were collected from June to August 2023. MAIN OUTCOMES AND MEASURES: Responses were assessed via a Likert scale for medical accuracy and completeness. Statistical analysis involved the Mann-Whitney U test and the Kruskal-Wallis test, followed by pairwise comparison. RESULTS: The combined question-case mean rank for accuracy was 506.2 for the LLM chatbot and 403.4 for glaucoma specialists (n = 831; Mann-Whitney U = 27976.5; P &lt; .001), and the mean rank for completeness was 528.3 and 398.7, respectively (n = 828; Mann-Whitney U = 25218.5; P &lt; .001). The mean rank for accuracy was 235.3 for the LLM chatbot and 216.1 for retina specialists (n = 440; Mann-Whitney U = 15518.0; P = .17), and the mean rank for completeness was 258.3 and 208.7, respectively (n = 439; Mann-Whitney U = 13123.5; P = .005). The Dunn test revealed a significant difference between all pairwise comparisons, except specialist vs trainee in rating chatbot completeness. The overall pairwise comparisons showed that both trainees and specialists rated the chatbot’s accuracy and completeness more favorably than those of their specialist counterparts, with specialists noting a significant difference in the chatbot’s accuracy (z = 3.23; P = .007) and completeness (z = 5.86; P &lt; .001). CONCLUSIONS AND RELEVANCE: This study accentuates the comparative proficiency of LLM chatbots in diagnostic accuracy and completeness compared with fellowship-trained ophthalmologists in various clinical scenarios. The LLM chatbot outperformed glaucoma specialists and matched retina specialists in diagnostic and treatment accuracy, substantiating its role as a promising diagnostic adjunct in ophthalmology.

La microscopie confocale laser endoscopique (pCLE) est une technologie récente d’imagerie endoscopique par mini sondes. Ces dernières peuvent être utilisées au travers du canal opérateur des endoscopes thoraciques. Une fois appliquée sur le tissu d’intérêt, elles permettent son étude à un niveau microscopique, en directe et de manière dynamique.

Fairness (also known as equity interchangeably) in machine learning is important for societal well-being, but limited public datasets hinder its progress. Currently, no dedicated public medical datasets with imaging data for fairness learning are available, though underrepresented groups suffer from more health issues. To address this gap, we introduce Harvard Glaucoma Fairness (Harvard-GF), a retinal nerve disease dataset including 3,300 subjects with both 2D and 3D imaging data and balanced racial groups for glaucoma detection. Glaucoma is the leading cause of irreversible blindness globally with Blacks having doubled glaucoma prevalence than other races. We also propose a fair identity normalization (FIN) approach to equalize the feature importance between different identity groups. Our FIN approach is compared with various state-of-the-art fairness learning methods with superior performance in the racial, gender, and ethnicity fairness tasks with 2D and 3D imaging data, demonstrating the utilities of our dataset Harvard-GF for fairness learning. To facilitate fairness comparisons between different models, we propose an equity-scaled performance measure, which can be flexibly used to compare all kinds of performance metrics in the context of fairness. The dataset and code are publicly accessible via https://ophai.hms.harvard.edu/datasets/harvard-gf3300/.

Shrimp (Litopenaeus vannamei) were provided access to sea urchin (Lytechinus variegatus) egesta to investigate whether fresh egesta (containing an active microbiome) consumed alone or in combination with a commercial shrimp feed could influence growth, feed conversion, body composition, and survival of L. vannamei in co-culture. In an initial experiment conducted for 8 wk, shrimp were proffered a full or reduced ration (100%, 60%, and 20%) of commercial shrimp feed with or without access to sea urchin egesta serving as a source of supplemental nutrients and presumptive probiotics. Individual weight gain of shrimp provided sea urchin egesta only (10.37 ± 0.35 g) did not differ significantly from that of shrimp proffered a full ration of feed (9.46 ± 0.39 g) despite significant compositional differences. Consumption of sea urchin egesta combined with commercial shrimp feed resulted in significantly greater weight gain of shrimp when compared with shrimp proffered the same level of commercial shrimp feed only. The largest weight gains of shrimp were found for those groups fed rations of 60% and 100% and had access to egesta (14.09 ± 0.75 g and 14.72 ± 0.68 g, respectively). In the next experiment, shrimp were stocked at different densities (approximately 23, 45, 68, and 90 individuals m–2) and were not proffered feed directly. All replicates were provided access to fresh sea urchin egesta produced by four urchins that were fed at a daily rate of 3% of the total initial group weight (140.4 ± 0.7 g) for 8 wk. The largest individual weight gain was found in the lowest density treatment (6.55 ± 0.38 g). Harvested biomass significantly increased as density increased, except for the highest density treatment. These results indicate that sea urchin egesta may provide some growth enhancement factor(s) to shrimp when proffered in conjunction with a commercial diet, and at a certain density of shrimp sea urchin egesta may actually serve as a nutritionally complete diet. [ABSTRACT FROM AUTHOR]

IMPORTANCE: The coexistence of underlying causes in patients with transient ischemic attack (TIA) or minor ischemic stroke as well as their associated 5-year risks are not well known. OBJECTIVE: To apply the ASCOD (atherosclerosis, small vessel disease, cardiac pathology, other cause, or dissection) grading system to assess coexistence of underlying causes of TIA and minor ischemic stroke and the 5-year risk for major vascular events. DESIGN, SETTING, AND PARTICIPANTS: This international registry cohort (TIAregistry.org) study enrolled 4789 patients from June 1, 2009, to December 31, 2011, with 1- to 5-year follow-up at 61 sites in 21 countries. Eligible patients had a TIA or minor stroke (with modified Rankin Scale score of 0 or 1) within the last 7 days. Among these, 3847 patients completed the 5-year follow-up by December 31, 2016. Data were analyzed from October 1, 2022, to June 15, 2023. EXPOSURE: Five-year follow-up. MAIN OUTCOMES AND MEASURES: Estimated 5-year risk of the composite outcome of stroke, acute coronary syndrome, or cardiovascular death. RESULTS: A total of 3847 patients (mean [SD] age, 66.4 [13.2] years; 2295 men [59.7%]) in 42 sites were enrolled and participated in the 5-year follow-up cohort (median percentage of 5-year follow-up per center was 92.3% [IQR, 83.4%-97.8%]). In 998 patients with probable or possible causal atherosclerotic disease, 489 (49.0%) had some form of small vessel disease (SVD), including 110 (11.0%) in whom a lacunar stroke was also probably or possibly causal, and 504 (50.5%) had no SVD; 275 (27.6%) had some cardiac findings, including 225 (22.6%) in whom cardiac pathology was also probably or possibly causal, and 702 (70.3%) had no cardiac findings. Compared with patients with none of the 5 ASCOD categories of disease (n = 484), the 5-year rate of major vascular events was almost 5 times higher (hazard ratio [HR], 4.86 [95% CI, 3.07-7.72]; P &lt; .001) in patients with causal atherosclerosis, 2.5 times higher (HR, 2.57 [95% CI, 1.58-4.20]; P &lt; .001) in patients with causal lacunar stroke or lacunar syndrome, and 4 times higher (HR, 4.01 [95% CI, 2.50-6.44]; P &lt; .001) in patients with causal cardiac pathology. CONCLUSION AND RELEVANCE: The findings of this cohort study suggest that in patients with TIA and minor ischemic stroke, the coexistence of atherosclerosis, SVD, cardiac pathology, dissection, or other causes is substantial, and the 5-year risk of a major vascular event varies considerably across the 5 categories of underlying diseases. These findings further suggest the need for secondary prevention strategies based on pathophysiology rather than a one-size-fits-all approach.

IMPORTANCE: Calcium channel blocker (CCB) use has been associated with an increased risk of glaucoma in exploratory studies. OBJECTIVE: To examine the association of systemic CCB use with glaucoma and related traits among UK Biobank participants. DESIGN, SETTING, AND PARTICIPANTS: This population-based cross-sectional study included UK Biobank participants with complete data (2006-2010) for analysis of glaucoma status, intraocular pressure (IOP), and optical coherence tomography (OCT)–derived inner retinal layer thicknesses. Data analysis was conducted in January 2023. EXPOSURE: Calcium channel blocker use was assessed in a baseline touchscreen questionnaire and confirmed during an interview led by a trained nurse. MAIN OUTCOMES AND MEASURES: The primary outcome measures included glaucoma status, corneal-compensated IOP, and 2 OCT-derived inner retinal thickness parameters (macular retinal nerve fiber layer [mRNFL] and macular ganglion cell–inner plexiform layer [mGCIPL] thicknesses). We performed logistic regression and linear regression analyses to test for associations with glaucoma status and IOP and OCT-derived inner retinal thickness parameters, respectively. RESULTS: This study included 427 480 adults. Their median age was 58 (IQR, 50-63) years, and more than half (54.1%) were women. There were 33 175 CCB users (7.8%). Participants who had complete data for glaucoma status (n = 427 480), IOP (n = 97 100), and OCT-derived inner retinal layer thicknesses (n = 41 023) were eligible for respective analyses. After adjustment for key sociodemographic, medical, anthropometric, and lifestyle factors, use of CCBs (but not other antihypertensive agents) was associated with greater odds of glaucoma (odds ratio [OR], 1.39 [95% CI, 1.14 to 1.69]; P = .001). Calcium channel blocker use was also associated with thinner mGCIPL (−0.34 μm [95% CI, −0.54 to −0.15 μm]; P = .001) and mRNFL (−0.16 μm [95% CI, −0.30 to −0.02 μm]; P = .03) thicknesses but not IOP (−0.01 mm Hg [95% CI, −0.09 to 0.07 mm Hg]; P = .84). CONCLUSIONS AND RELEVANCE: In this study, an adverse association between CCB use and glaucoma was observed, with CCB users having, on average, 39% higher odds of glaucoma. Calcium channel blocker use was also associated with thinner mGCIPL and mRNFL thicknesses, providing a structural basis that supports the association with glaucoma. The lack of association of CCB use with IOP suggests that an IOP-independent mechanism of glaucomatous neurodegeneration may be involved. Although a causal relationship has not been established, CCB replacement or withdrawal may be considered should glaucoma progress despite optimal care.

IMPORTANCE: Better understanding of primary open-angle glaucoma (POAG) genetics could enable timely screening and promote individualized disease risk prognostication. OBJECTIVE: To evaluate phenotypic features across genetic burden for POAG. DESIGN, SETTING, AND PARTICIPANTS: This was a cross-sectional, population-based study conducted from 2006 to 2010. Included participants were individuals from the UK Biobank aged 40 to 69 years. Individuals with non-POAG forms of glaucoma were excluded from the analysis. Data were statistically analyzed from October 2022 to January 2023. MAIN OUTCOMES AND MEASURES: POAG prevalence based on structural coding, self-reports, and glaucoma-related traits. RESULTS: Among 407 667 participants (mean [SD] age, 56.3 [8.1] years; 219 183 majority sex [53.8%]) were 14 171 POAG cases. Area under receiver operating characteristic curve for POAG detection was 0.748 in a model including polygenic risk score (PRS), age, sex, and ancestry. POAG prevalence in the highest decile of PRS was 7.4% (3005 of 40 644) vs 1.3% (544 of 40 795) in lowest decile (P &lt; .001). A 1-SD increase in PRS was associated with 1.74 times higher odds of POAG (95% CI, 1.71-1.77), a 0.61-mm Hg increase in corneal-compensated intraocular pressure (IOP; 95% CI, 0.59-0.64), a −0.09-mm Hg decrease in corneal hysteresis (95% CI, −0.10 to −0.08), a 0.08-mm Hg increase in corneal resistance factor (95% CI, 0.06-0.09), and a −0.08-diopter decrease in spherical equivalent (95% CI, −0.11 to −0.07; P &lt; .001 for all). A 1-SD increase in PRS was associated with a thinning of the macula-region retinal nerve fiber layer (mRNFL) of 0.14 μm and macular ganglion cell complex (GCC) of 0.26 μm (P &lt; .001 for both). In the subset of individuals with fundus photographs, a 1-SD increase in PRS was associated with 1.42 times higher odds of suspicious optic disc features (95% CI, 1.19-1.69) and a 0.013 increase in cup-disc ratio (CDR; 95% CI, 0.012-0.014; P &lt; .001 for both). A total of 22 of 5193 fundus photographs (0.4%) in decile 10 had disc hemorrhages, and 27 of 5257 (0.5%) had suspicious optic disc features compared with 9 of 5158 (0.2%) and 10 of 5219 (0.2%), respectively, in decile 1 (P &lt; .001 for both). CDR in decile 10 was 0.46 compared with 0.41 in decile 1 (P &lt; .001). CONCLUSION AND RELEVANCE: Results suggest that PRS identified a group of individuals at substantially higher risk for POAG. Higher genetic risk was associated with more advanced disease, namely higher CDR and corneal-compensated IOP, thinner mRNFL, and thinner GCC. Associations with POAG PRS and corneal hysteresis and greater prevalence of disc hemorrhages were identified. These results suggest that genetic risk is an increasingly important parameter for risk stratification to consider in clinical practice.

Ophthalmic images, along with their derivatives like retinal nerve fiber layer (RNFL) thickness maps, play a crucial role in detecting and monitoring eye diseases such as glaucoma. For computer-aided diagnosis of eye diseases, the key technique is to automatically extract meaningful features from ophthalmic images that can reveal the biomarkers (e.g., RNFL thinning patterns) associated with functional vision loss. However, representation learning from ophthalmic images that links structural retinal damage with human vision loss is non-trivial mostly due to large anatomical variations between patients. This challenge is further amplified by the presence of image artifacts, commonly resulting from image acquisition and automated segmentation issues. In this paper, we present an artifact-tolerant unsupervised learning framework called EyeLearn for learning ophthalmic image representations in glaucoma cases. EyeLearn includes an artifact correction module to learn representations that optimally predict artifact-free images. In addition, EyeLearn adopts a clustering-guided contrastive learning strategy to explicitly capture the affinities within and between images. During training, images are dynamically organized into clusters to form contrastive samples, which encourage learning similar or dissimilar representations for images in the same or different clusters, respectively. To evaluate EyeLearn, we use the learned representations for visual field prediction and glaucoma detection with a real-world dataset of glaucoma patient ophthalmic images. Extensive experiments and comparisons with state-of-the-art methods confirm the effectiveness of EyeLearn in learning optimal feature representations from ophthalmic images.

Previous studies have debated the optimal time to perform excision and grafting of second- and third-degree burns. This study demonstrates that US patients who undergo excision within 48 hours have better outcomes compared to standard management.

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Foveal avascular zone geometric indices, assessed with optical coherence tomography angiography after rhegmatogenous retinal detachment repair, may be a potential imaging feature suggesting retinal displacement. In our study, foveal avascular zone circularity was less in eyes that underwent pars plana vitrectomy versus pneumatic retinopexy and in those with retinal displacement.

This review of the 2019 TQIP dataset demonstrates that #teaching trauma centers outperform #nonteaching centers in the treatment of patients requiring massive transfusion.

Even the most powerful handheld screening tool for glaucoma will not find cases cost-effectively because the disease prevalence is low. However, a tier 1 biomarker tool that enhances disease prevalence followed by the use of a screening tool could serve as a future glaucoma screening strategy.

Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also show high heritability: intraocular pressure and optic nerve head excavation damage quantified as the vertical cup-to-disc ratio. Here, since much of glaucoma heritability remains unexplained, we conducted a large-scale multitrait genome-wide association study in participants of European ancestry combining primary open-angle glaucoma and its two associated traits (total sample size over 600,000) to substantially improve genetic discovery power (263 loci). We further increased our power by then employing a multiancestry approach, which increased the number of independent risk loci to 312, with the vast majority replicating in a large independent cohort from 23andMe, Inc. (total sample size over 2.8 million; 296 loci replicated at P< 0.05, 240 after Bonferroni correction). Leveraging multiomics datasets, we identified many potential druggable genes, including neuro-protection targets likely to act via the optic nerve, a key advance for glaucoma because all existing drugs only target intraocular pressure. We further used Mendelian randomization and genetic correlation-based approaches to identify novel links to other complex traits, including immune-related diseases such as multiple sclerosis and systemic lupus erythematosus.

AimsTo assess whether associations of cardiopulmonary conditions and markers with glaucoma differ by background genetic risk for primary open angle glaucoma (POAG).MethodsWe constructed a POAG polygenic risk score (PRS) using genome-wide association study summary statistics from a large cross-ancestry meta-analysis. History of glaucoma (including self-report and codes for POAG, ‘other glaucoma’ or unspecified glaucoma), history of common cardiopulmonary conditions and cardiopulmonary measures were assessed in the UK Biobank. Stratifying by PRS decile 1 (lowest risk) versus decile 10 (highest risk), separate multivariable models were estimated to assess the associations of cardiopulmonary diseases or factors with glaucoma, adjusting for age, sex, smoking and medication use. A Bonferroni correction was used to adjust p values for multiple comparisons.ResultsIndividuals in POAG PRS decile 1 (417 cases, 44 458 controls; mean age 56.8 years) and decile 10 (2135 cases, 42 413 controls; mean age 56.7 years) were included. Within decile 1, glaucoma cases had significantly higher glycated haemoglobin (38.5 vs 35.9 mmol/mol) and higher prevalence of diabetes (17.5% vs 6.5%), dyslipidaemia (31.2% vs 18.3%) and chronic kidney disease (CKD) (6.7% vs 2.0%) than controls (adjusted p<0.0013 for each). Within decile 10, glaucoma was associated with higher prevalence of dyslipidaemia (27.7% vs 17.3%, p=6.9E-05). The magnitude of association between glaucoma and diabetes, CKD and glycated haemoglobin differed between deciles 1 and 10 (contrast test p value for difference <0.05).ConclusionThe relations between systemic conditions and glaucoma vary by underlying genetic predisposition to POAG, with larger associations among those who developed glaucoma despite low genetic risk.

Dieser Beitrag in der Zeitschrift „Gruppe. Interaktion. Organisation. (GIO)“ gibt einen Überblick über die vielfältigen Digitalisierungs- und Automatisierungsmöglichkeiten, die aktuelle technologische Entwicklungen für die Weiterbildung in Organisationen eröffnen, und diskutiert Chancen und Risken ihres Einsatzes.

ABSTRACTHIV-1 cDNA pre-integration complexes persist for weeks in macrophages and remain transcriptionally active. While previous work has focused on the transcription of HIV-1 genes; our understanding of the cellular milieu that accompanies viral production is incomplete. We have used an in vitrosystem to model HIV-1 infection of macrophages, and single-cell RNA sequencing (scRNA-seq) to compare the transcriptomes of uninfected cells, cells harboring pre-integration complexes (PIC), and those containing integrated provirus and making late HIV proteins. scRNA-seq can distinguish between provirus and PIC cells because their background transcriptomes vary dramatically. PIC cell transcriptomes are characterized by NFkB and AP-1 promoted transcription, while transcriptomes of cells transcribing from provirus are characterized by E2F family transcription products. We also find that the transcriptomes of PIC cells and Bystander cells (defined as cells not producing any HIV transcript and thus presumably not infected) are indistinguishable except for the presence of HIV-1 transcripts. Furthermore, the presence of pathogen alters the transcriptome of the uninfected Bystander cells, so that they are distinguishable from true control cells (cells not exposed to any pathogen). Therefore, a single cell comparison of transcriptomes from provirus and PIC cells provides a new understanding of the transcriptional changes that accompany HIV-1 integration.

Primary ciliary dyskinesia is a rare inherited heterogeneous motile ciliopathy in which respiratory cilia are stationary, or beat in a slow or dyskinetic manner, leading to impaired mucociliary clearance and significant otosinopulmonary disease. Ciliary beating can be evaluated using digital high-speed videomicroscopy (DHSV). However, given the lack of standard operating procedures, and as minor variations in DHSV protocols might influence ciliary beating, varying normal reference ranges are described between centers. We aimed to evaluate whether the delay after sampling, and the temperature for conservation of respiratory ciliated samples before videomicroscopy, might modify ciliary beating.

Remote Amazonian communities are often largely self-sufficient, made possible in part by their agricultural skills and deep ecological knowledge of their landscapes. Mastery of their local flora undoubtedly plays a vital role in daily life, yet communities in the Amazon can vary widely in both the diversity of plants that they utilize and in how they manage plants in their agricultural landholdings. The dominant drivers of these differences in ecological knowledge and practices between communities are not clearly understood. We compare the agricultural practices and diversity of utilized plants in an Indigenous Urarina community and a Mestizo community in the Peruvian Amazon. Through field surveys and farmer interviews, we assessed the diversity of utilized plants found in the homegardens (N = 17) and chacras(cropped fields; N = 47), as well as multiple agricultural characteristics of the chacrasand fallow fields (N = 32). Households from the Mestizo community cultivated a larger land area, while both communities utilized relatively short fallow times of < 6 years. Across both communities, farmers make use of a total of 207 plant species belonging to 60 plant families for various resources, including food, spices, medicine, fuel, craft, construction, hunting/fishing, and spiritual/cultural uses. Species diversity of utilized plants was significantly higher in the Urarina community, likely reflecting their longer historical roots in the region, lower reliance on a market economy, greater reliance on farm and forest products, and higher degree of biocultural relationship to the land. Kin size was negatively correlated with homegarden diversity, while increasing household wealth led to more species diversity in Urarina landholdings, but less diversity in Mestizo landholdings. These results suggest that both Mestizo and Indigenous communities, and especially the latter, play an important role in the conservation of traditional ecological knowledge and agrobiodiversity in the Peruvian Amazon; however, increasing market integration may jeopardize the biocultural relationships that undergird this in situ conservation.

Irritable bowel syndrome (IBS) is a chronic disorder associated with an abnormal gastrointestinal microbiome. Microbiome–host interactions are known to influence organ function including in the central nervous system; thus, we sought to identify whether IBS may be a risk factor for the development of glaucoma. Two prospective cohort studies. The 1958 United Kingdom Birth Cohort (UKBC; 9091 individuals) and the Danish National Registry of Patients (DNRP; 62,541 individuals with IBS and 625,410 matched general population cohort members). In the UKBC, participants were surveyed throughout life (including at ages 42 and 50). The DNRP contains records of hospital‐based contacts and prescription data from the national prescription database. The main outcome measure was incidence of glaucoma. In the UKBC, incident glaucoma at age 50 (n= 48) was determined through comparison of survey responses at ages 42 and 50 years. In the DNRP, glaucoma was assessed by hospital diagnosis (n= 1510), glaucoma surgery (n= 582) and initiation of glaucoma medications (n= 1674). In the UKBC, the odds ratio (OR) of developing glaucoma between ages 42 and 50 in persons with a chronic IBS diagnosis was increased [OR: 5.84, 95% confidence interval (CI): 2.26–15.13]. People with an IBS diagnosis in the DNRP had a hazard ratio (HR) of 1.35 for developing physician‐diagnosed glaucoma (95% CI: 1.16–1.56), an HR of 1.35 for undergoing glaucoma surgery (95% CI: 1.06–1.70) and an HR of 1.19 for initiating glaucoma medication (95% CI: 1.03–1.38). In two large European cohort studies, IBS is a risk factor for glaucoma.

Population-based genomic screening may help diagnose individuals with disease-risk variants. Here, we perform a genome-first evaluation for nine disorders in 29,039 participants with linked exome sequences and electronic health records (EHRs). We identify 614 individuals with 303 pathogenic/likely pathogenic or predicted loss-of-function (P/LP/LoF) variants, yielding 644 observations; 487 observations (76%) lack a corresponding clinical diagnosis in the EHR. Upon further investigation, 75 clinically undiagnosed observations (15%) have evidence of symptomatic untreated disease, including familial hypercholesterolemia (3 of 6 [50%] undiagnosed observations with disease evidence) and breast cancer (23 of 106 [22%]). These genetic findings enable targeted phenotyping that reveals new diagnoses in previously undiagnosed individuals. Disease yield is greater with variants in penetrant genes for which disease is observed in carriers in an independent cohort. The prevalence of P/LP/LoF variants exceeds that of clinical diagnoses, and some clinically undiagnosed carriers are discovered to have disease. These results highlight the potential of population-based genomic screening.

Mucociliary clearance (MCC) results from an effective interaction between the mucus layer and the normal coordinated ciliary beating. Ciliary dyskinesia, or an abnormal ciliary beating, is defined as an abnormal ciliary beat frequency (CBF) and/or ciliary beat pattern (CBP), and can be primary, or secondary to chronic infection or inflammation. In cystic fibrosis (CF), MCC is impaired due to dehydrated mucus, but recent data suggested that a ciliary dyskinesia may contribute to poor MCC in CF patients. Newborn screening (NBS) for CF was implemented in Belgium in 2019. The impact of NBS on pulmonary outcomes is quite unclear, but some data have suggested that lung deterioration would be slowed, likely due to reduced respiratory infections. However, to our knowledge, it is unknown if this has an impact on MCC impairment in CF. The aim of this study was to compare ciliary beating between CF patients diagnosed after a positive NBS (newborn-screened) and CF patients referred for a CF diagnosis due to suggestive clinical manifestations (clinically diagnosed).

Asthma disease is linked to a dysbiosis. Synbiotics are a combination of probiotics and prebiotics, which are well tolerated and safe. They have been shown to have positive effects on asthma condition in in vivomodels and in some studies on asthmatic patients. However, the literature focusing on their effects on asthma condition is limited and human studies are still insufficient.