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The motion of an ion in a radiofrequency (rf) Paul trap is described by the Mathieu equation and the associated stability parameters that are proportional to the rf and dc electric field gradients. Here, a higher-order, iterative method to accurately solve the stability parameters from measured secular frequencies is presented. It is then used to characterize an endcap trap by showing that the trap's radial asymmetry is dominated by the dc field gradients and by measuring the relation between the applied voltages and the gradients. The results are shown to be in good agreement with an electrostatic finite-element-method simulation of the trap. Furthermore, a method to determine the direction of the radial trap axes using a "tickler" voltage is presented, and the temperature dependence of the rf voltage is discussed. As an application for optical ion clocks, the method is used to predict and minimize the electric quadrupole shift (EQS) using the applied dc voltages. Finally, a lower limit of 1070 for the cancellation factor of the Zeeman-averaging EQS cancellation method is determined in an interleaved low-/high-EQS clock measurement. This reduces the EQS uncertainty of our 88 Sr + optical clock to ≲ 1 × 10 − 19 in fractional frequency units. [ABSTRACT FROM AUTHOR]

The method of generating x-rays using the pyroelectric effect has garnered interest for applications that desire portability and low power consumption, particularly for real-time in-field and on-line analyses. However, the x-ray intensity produced by this type of x-ray generator is low and inconsistent compared to conventional x-ray tubes. The properties of several pyroelectric materials, including LiTaO3, LiNbO3, and PMN-xPT, were studied and subsequently tested on an in-house developed x-ray generator to explore their suitability for the application. The production of electrons to subsequently generate x-ray relies on the process of ferroelectric electron emission and field ionization to be dominant over charge compensation via the DC conductivity of the pyroelectric material. Given that the time of temperature change occurs faster than the material's charge relaxation time, it was found that the ratio of the pyroelectric coefficient to relative permittivity determined the performance of the x-ray generator. Thus, the x-ray count rates and end-point energies produced by LiTaO3 showed that it continues to be a strong candidate for such x-ray generation applications. [ABSTRACT FROM AUTHOR]

Fungal rhinitis in horses is rare, although severe, due to the progressive nasal obstruction. Aspergillus is one of the fungi most often involved in these cases. A 7-year-old Quarter Horse mare weighing 325 kg was admitted with a history of recurrent nasal discharge and bleeding, foul smell, reluctance to exercise, and abortion. Laboratory and imaging examinations revealed eosinophilia, scarring and erosion areas in the nasal mucosa, purulent and bloody secretions, and remarkable yellowish plaques. Histopathological examination revealed fungal rhinitis and bacterial culture revealed the presence of β-hemolytic Streptococcus and Staphylococcus sp. Fungal culture and molecular diagnosis confirmed Aspergillus fumigatus as the etiological agent. A tracheostomy was necessary due to the patient's dyspnea. For the treatment, topical application of clotrimazole ointment was carried out in the rostral portion of the nasal cavity once a day and in the caudal portion of the nasal cavity, endoscopic guided every 48 h. In the fifth endoscopy-guided application, a significant improvement was noticed; however, the animal exhibited a hypersensitivity reaction, and the treatment was discontinued. Thus, potassium iodide therapy was initiated (67 mg/kg, PO, SID, 14 days). The patient demonstrated favorable clinical improvement, achieved resolution of the fungal infection, and was discharged after 25 days of hospitalization. Topical clotrimazole demonstrated a probable efficacy as a standalone treatment, although its use had to be prematurely discontinued due to the emergence of a hypersensitivity reaction. The combination of clotrimazole and potassium iodide effectively treated fungal rhinitis in a shorter time than previously reported. This report provides useful guidance for other cases of fungal rhinitis, although further studies are needed., Competing Interests: Declarations. Ethics approval: All owners of animals treated at the veterinary hospital of the School of Veterinary Medicine and Animal Science give consent for research and publications upon hospital admission. Competing interests: The authors have no financial or non-financial interests to disclose., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

The present study aimed to investigate the relationship between school bullying victimization and non-suicidal self-injury (NSSI) frequency, taking into consideration the mediating roles of coping strategies and emotional regulation. Participants were 12-18-year-old outpatients and inpatients who met the NSSI and depressive disorder criteria according to the DSM-5. Assessments included the Multidimensional Peer-Victimization Scale, Coping Style Scale for Middle School Students, Emotion Regulation Questionnaire for Children and Adolescents, and the Functional Assessment of Self-Mutilation to examine the bullying victimization, coping strategies, emotion regulation, and NSSI behaviour. Serial multiple mediation effects of coping strategies and emotion regulation between bullying victimization and NSSI frequency were analysed using the SPSS macro PROCESS programme. A total of 2335 participants were included in this study. Bullying victimization significantly predicted NSSI frequency (B = 0.191, p < 0.001). Both coping strategies and emotion regulation were important mediators in the relationship between bullying victimization and NSSI frequency. Bullying victimization indirectly affected NSSI through two serial mediation pathways: (1) bullying victimization → problem-focused coping → cognitive reappraisal → NSSI frequency, and (2) bullying victimization → emotion-focused coping→ expressive suppression → NSSI frequency. The study revealed a positive association between bullying victimization and the frequency of NSSI among adolescents with depressive disorder. Strategies of coping and emotional regulation significantly mediated the link between bullying victimization and the frequency of NSSI. The findings suggested that supporting adolescents in adopting effective coping and emotional regulation strategies could be a crucial approach to mitigate the impact of bullying victimization on the frequency of NSSI., (© 2024 John Wiley & Sons Ltd.)

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype–phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was performed using classical molecular approaches and next-generation sequencing. Common haplotypes were ascertained by analyzing single-nucleotide polymorphisms. We identified 56 variants, including 11 novel variants. Most of them were missense variants (64%) and were located in the D2-loop protein domain (77%). The most frequently occurring variants were p.Gly167Ser, p.Gly208Asp and p.Pro221_Cys222del. Haplotype analysis revealed a shared region in families carrying p.Leu41Pro or p.Pro221_Cys222del. Patients with retinitis pigmentosa presented an earlier disease onset. We describe the largest cohort of IRD families associated with PRPH2 from a single center. Most variants were located in the D2-loop domain, highlighting its importance in interacting with other proteins. Our work suggests a likely founder effect for the variants p.Leu41Pro and p.Pro221_Cys222del in our Spanish cohort. Phenotypes with a primary rod alteration presented more severe affectation. Finally, the high phenotypic variability in PRPH2 hinders the possibility of drawing genotype–phenotype correlations. [ABSTRACT FROM AUTHOR]

Purpose: Mutations in Topoisomerase I–binding RS protein (TOPORS) have been previously documented and have been described to result in pathological autosomal dominant retinitis pigmentosa (adRP). In our study, we describe the various genotypes and clinical/phenotypic manifestations of TOPORS-related mutations of our unique patient population in Rural Appalachia. Methods: The medical records of 416 patients with inherited retinal disease at the West Virginia University Eye Institute who had undergone genetic testing between the years of 2015–2022 were reviewed. Patients found to have pathologic RP and mutations related to TOPORS were then analyzed. Results: In total, 7 patients (ages 12–70) were identified amongst three unique families. All patients were female in our study. The average follow-up period was 7.7 years. A mother (70 yr) and daughter (51 yr) had a novel heterozygous nonsense point mutation in TOPORS c.2431C > T, p.Gln811X (Exon 3) that led to premature termination of the desired protein resulting in early onset vision loss, cataract formation, and visual field restriction. The mother developed a full-thickness macular hole which was successfully repaired. Five other patients were found to have previously described TOPORS mutations. Visual field loss was progressive with age in both cohorts. Conclusions: Seven patients at our institution were identified to have mutations in TOPORS resulting in autosomal dominant retinitis pigmentosa. Two patients were found to have novel truncating mutations in the TOPORS gene resulting in profound night blindness and visual field loss, recurrent macular edema, and in one individual, epiretinal membrane formation leading to a macular hole which was able to be successfully repaired. [ABSTRACT FROM AUTHOR]

Sodin 5 is a type 1 ribosome-inactivating protein isolated from the seeds of Salsola soda L., an edible halophytic plant that is widespread in southern Europe, close to the coast. This plant, known as 'agretti', is under consideration as a new potential crop on saline soils. Considering a possible defence role of sodin 5 in the plant, we report here its antifungal activity against different halophilic and halotolerant fungi. Our results show that sodin 5 at a concentration of 40 µg/mL (1.4 µM) was able to inhibit the growth of the fungi Trimmatostromma salinum (35.3%), Candida parapsilosis (24.4%), Rhodotorula mucilaginosa (18.2%), Aspergillus flavus (12.2%), and Aureobasidium melanogenum (9.1%). The inhibition observed after 72 h was concentration-dependent. On the other hand, very slight growth inhibition was observed in the fungus Hortaea werneckii (4.2%), which commonly inhabits salterns. In addition, sodin 5 showed a cytotoxic effect on the Sf9 insect cell line, decreasing the survival of these cells to 63% at 1.0 µg/mL (34.5 nM). Structural analysis of sodin 5 revealed that its N-terminal amino acid residue is blocked. Using mass spectrometry, sodin 5 was identified as a homologous to type 1 polynucleotide:adenosine glycosylases, commonly known as ribosome-inactivating proteins from the Amaranthaceae family. Twenty-three percent of its primary structure was determined, including the catalytic site. [ABSTRACT FROM AUTHOR]

A substantial amount of reports has been published on the association between the environment Aspergillus conidia and fine particulates, while limited studies have focused on the association between invasive aspergillosis and ambient fine particulate air pollution. The aim of this study is to explore the population-level association between ambient fine particulate PM2.5 air pollution and invasive aspergillosis. We designed multiple powerful systems applied to a unique collection of long-term and nationwide database of daily ambient PM2.5 levels and invasive aspergillosis incidence in Taiwan. Two data sets were leveraged for this study; the National Health Insurance Research Database and the Taiwan air quality monitoring network. The National Health Insurance Research Database was used to define invasive aspergillosis while the Taiwan air quality monitoring network was used to profile the PM2.5 concentration in Taiwan. We adopted the cases of invasive aspergillosis infection from the system with PM2.5 levels. A total of 1,000,000 patients during the study period (1999–2009) were included in the data set.The findings of this study suggest positive association between PM2.5 concentration and incidence of aspergillosis. Furthermore, monthly-wise invasive aspergillosis case number potentially demonstrated lagged pattern following peaking of PM2.5 concentration. [ABSTRACT FROM AUTHOR]

This study examines how aid workers in nongovernmental migrant shelters across Mexico conceptualize the relationship between Psychological First Aid (PFA) and border externalization. PFA is an early intervention approach to providing information, support, and comfort to survivors of recent traumas. Unlike "psychological debriefing," PFA discourages processing of recent traumas, which has been critiqued for exacerbating psychological distress. As the U.S. government has "externalized" immigration enforcement by pressuring the Mexican to intensify immigration enforcement along transit corridors throughout Mexico, shelters that emerged originally to provide short-term humanitarian aid to transit migrants increasingly provide aid to people over the course of several weeks and months as they pursue humanitarian status regularization in Mexico. These processes require migrants to render recent traumas legible to state authorities, the very thing PFA aims to avoid. This study aimed to make sense of this apparent tension through 15 in-depth qualitative interviews with frontline humanitarian aid workers. Interviewees described PFA as a framework that attunes aid workers to what level of aid is feasible for organizations that were founded as volunteer-driven operations that provide short-term bodily aid to transit migrants but have become increasingly professionalized operations that provide longer-term aid to people seeking humanitarian recognition in Mexico. Whereas prior studies have considered the impact of PFA for individuals, results indicate that for aid workers, PFA may provide a framework for coping with contradictory organizational logics of care and control that characterize border externalization in Mexico. [ABSTRACT FROM AUTHOR]

Simple Summary: Humans possess a group of nine related genes that form the PAX gene family. These genes encode proteins known as the PAX transcription factors, which control gene expression on a large scale and coordinate the development of bodily structures such as the eyes and muscles. The biological functions of PAX genes can be regulated by chemical modifications to their protein structures, interactions with other proteins, and changes in splicing, which can produce different versions of PAX proteins. Mutations in PAX genes can contribute to human diseases such as hypothyroidism, diabetes, and cancer. Further research into the functional consequences of these mutations could uncover novel treatments for these diseases. Since their 1986 discovery in Drosophila, Paired box (PAX) genes have been shown to play major roles in the early development of the eye, muscle, skeleton, kidney, and other organs. Consistent with their roles as master regulators of tissue formation, the PAX family members are evolutionarily conserved, regulate large transcriptional networks, and in turn can be regulated by a variety of mechanisms. Losses or mutations in these genes can result in developmental disorders or cancers. The precise mechanisms by which PAX genes control disease pathogenesis are well understood in some cases, but much remains to be explored. A deeper understanding of the biology of these genes, therefore, has the potential to aid in the improvement of disease diagnosis and the development of new treatments. [ABSTRACT FROM AUTHOR]

Voluntary carbon markets open horizons for private companies, public institutions, and individuals developing CO2 removal projects in peatlands to reduce overall carbon footprint. These steps, however, should be in line with appropriate rewetting targets. Therefore, the baseline information about the status of the area must be assessed. Here, we follow the methodology set by the carbon certification program standards, which define the necessary steps for reference conditions assessment. In this study, we practically test the fulfillment of necessary drained peatland baseline evaluation for paludiculture and carbon certification activities. Estimates on the greenhouse gas emission mitigation potential were summarized to define priorities and propose quantifiable measures with suggested paludiculture implementation. Our estimations indicate that rewetting and paludiculture practice on 16.4 ha drained extracted peatland could omit 60.17 t CO2 annual emissions and instead capture 80.31–120.11 t CO2 per year. If drainage continues, then it poses a risk of releasing stored carbon from leftover peat deposits into the atmosphere, contributing 52,653.64 t CO2 to greenhouse gas emissions. Our hands-on approach shows that it is possible for companies to implement rewetting strategies without large EU-level project funding when the conservation and economic aspects are met, thus boosting climate mitigation actions. [ABSTRACT FROM AUTHOR]

Checkpoint immunotherapy has made great strides in the treatment of solid tumors, but many patients do not respond to immune checkpoint inhibitors. Identification of tumor‐infiltrating cytotoxic T cells (CTLs) has the potential to stratify patients and monitor immunotherapy responses. In this study, the design of cluster of differentiation (CD8+) T cell‐targeted nanoprobes that emit shortwave infrared (SWIR) light in the second tissue‐transparent window for noninvasive, real‐time imaging of CTLs in murine models of breast cancer is presented. SWIR‐emitting rare‐earth nanoparticles encapsulated in human serum albumin are conjugated with anti‐CD8α to target CTLs with high specificity. CTL targeting is validated in vitro through binding of nanoprobes to primary mouse CTLs. The potential for the use of SWIR fluorescence intensity to determine CTL presence is validated in two syngeneic mammary fat pad tumor models, EMT6 and 4T1, which differ in immune infiltration. SWIR imaging using CD8‐targeted nanoprobes successfully identifies the presence of CTLs in the more immunogenic EMT6 model, while imaging confirms the lack of substantial immune infiltration in the nonimmunogenic 4T1 model. In this work, the opportunity for SWIR imaging using CD8‐targeted nanoprobes to assess CTL infiltration in tumors for the stratification and monitoring of responders to checkpoint immunotherapy is highlighted. [ABSTRACT FROM AUTHOR]

The cultivation of peat mosses ('Sphagnum farming') is a new wet and climate-friendly agricultural use of degraded bog sites. However, it is largely unknown to what extent these surrogate habitats are used by bog fauna. This study investigated the potential of Sphagnum cultivation sites as surrogate habitats for beetles and evaluated the relationship between the vegetation structure and the occurrence of beetle species. In 2017 and 2018, comparative surveys were carried out at different sub-areas of two Sphagnum cultivation sites and one near-natural bog. Beetles living in and on the upper Sphagnum layer were studied by manually extracting quadrat samples. Vegetation surveys were conducted in the same quadrats to analyze the occurrence of beetle species based on vegetation parameters. We collected 926 individuals of beetles belonging to 89 species out of 17 families. At the different sections of the cultivation sites, 8–16 bog-typical beetle species were found, while at the sub-areas of the near-natural bog, there were 15 and 19 bog-typical species, respectively. The statistical analyses showed that vegetation structure influenced the numbers of beetle species and individuals at both the cultivation and near-natural sites. Implications for insect conservation: A dense and high Sphagnum carpet is a fundamental habitat structure for the beetle fauna of cultivation sites, while vascular plants initially help to create habitat structures on bare peat. Conversely, if the vascular plants overgrow and shade the Sphagnum, this can have a negative effect on bog-typical beetle species, as shown at the near-natural site. [ABSTRACT FROM AUTHOR]

Peatland management practices, such as drainage and restoration, have a strong effect on boreal peatland methane (CH4) fluxes. Furthermore, CH4 fluxes are strongly controlled by local environmental conditions, such as soil hydrology, temperature and vegetation, which are all experiencing considerable changes due to climate change. Both management practices and climate change are expected to influence peatland CH4 fluxes during this century but the magnitude and net impact of these changes is still insufficiently understood. In this study, we simulated the impacts of two forest management practices, rotational forestry and continuous cover forestry, as well as peatland restoration on hypothetical forestry-drained peatlands across Finland using the land surface model JSBACH coupled with the soil carbon model YASSO and peatland methane model HIMMELI. We further simulated the impacts of climatic warming using two RCP (Representative Concentration Pathway) emission scenarios, RCP 2.6 and RCP 4.5. We investigated the response of CH4 fluxes, soil water-table level (WTL), soil temperatures, and soil carbon dynamics to changes in management practices and climate. Our results show that management practices have a strong impact on peatland WTLs and CH4 emissions continuing for several decades, with emissions increasing after restoration and clearcutting. Towards the end of the century, WTLs increase slightly likely due to increasing precipitation. CH4 fluxes have opposing trends in restored and drained peatlands. In restored peatlands, CH4 emissions decrease towards the end of the century following the decomposition harvest residue in the top peat layers, while in drained peatland forests sinks get weaker and occasional emissions become more common, likely due to rising WTL and soil temperatures. The strength of these trends vary across the country, with CH4 emissions from restored peatlands decreasing more strongly in southern Finland and forest soil CH4 sinks weakening most in northern Finland. [ABSTRACT FROM AUTHOR]

Earth's climate largely depends on carbon and nitrogen exchange between the atmosphere and tropical peatland ecosystems. Permanently wet peatlands take up carbon dioxide in plants and accumulate organic carbon in soil but release methane. Man-made drainage releases carbon dioxide from peat soils. Carbon and nitrous gas exchange and their relationships with tropical peatland conditions are poorly understood. We analysed natural peat swamp forests and fens, moderately drained and dry peatlands under a wide variety of land uses. The tropical peat swamp forests were large greenhouse gas sinks while tropical peatlands under moderate and low soil moisture levels emitted carbon dioxide and nitrous oxide. Carbon dioxide uptake of 160 mg m–2 h–1 dominated the net greenhouse gas budgets overall, while nitrous oxide emission of 90 mg CO2-equivalent m–2 h–1 on average was the second most important contributor (ahead of average methane emissions of 36 mg CO2-equivalent m–2 h–1) across the whole tropical peat moisture range. [ABSTRACT FROM AUTHOR]

The reduction of CO 2 emissions and the enhancement of CO 2 removals related to land use are considered essential for future pathways towards net-zero emissions and mitigating climate change. With the growing pressure under global climate treaties, country-level land-use CO 2 flux data are becoming increasingly important. So far, country-level estimates are mainly available through official country reports, such as the greenhouse gas inventories reported to the United Nations Framework Convention on Climate Change (UNFCCC). Recently, different modelling approaches, namely dynamic global vegetation models (DGVMs) and bookkeeping models, have moved to higher spatial resolutions, which makes it possible to obtain model-based country-level estimates that are globally consistent in their methodology. To progress towards a largely independent assessment of country reports using models, we analyse the robustness of country-level CO 2 flux estimates from different modelling approaches in the period 1950–2021 and compare them with estimates from country reports. Our results highlight the general ability of modelling approaches to estimate land-use CO 2 fluxes at the country level and at higher spatial resolution. Modelled land-use CO 2 flux estimates generally agree well, but the investigation of multiple DGVMs and bookkeeping models reveals that the robustness of their estimates strongly varies across countries, and substantial uncertainties remain, even for top emitters. Similarly, modelled land-use CO 2 flux estimates and country-report-based estimates agree reasonably well in many countries once their differing definitions are accounted for, although differences remain in some other countries. A separate analysis of CO 2 emissions and removals from land use using bookkeeping models also shows that historical peaks in net fluxes stem from emission peaks in most countries, whereas the long-term trends are more connected to removal dynamics. The ratio of the net flux to the sum of CO 2 emissions and removals from land use (the net-to-gross flux ratio) underlines the spatio-temporal heterogeneity in the drivers of net land-use CO 2 flux trends. In many tropical regions, net-to-gross flux ratios of about 50 % are due to much larger emissions than removals; in many temperate countries, ratios close to zero show that emissions and removals largely offset each other. Considering only the net flux thus potentially masks large emissions and removals and the different timescales upon which they act, particularly if averaged over countries or larger regions, highlighting the need for future studies to focus more on the gross fluxes. Data from this study are openly available via the Zenodo portal at 10.5281/zenodo.8144174. [ABSTRACT FROM AUTHOR]

Existing studies have explored the repercussions of school closures. The researchers were interested in exploring the virtual health and physical education program (VHPEP) by identifying existing practices, drawing a more profound understanding of teachers' experiences, identifying parents' roles played in support of their children and teachers, and finally recommending inputs for a better VHPEP. Using a criterion-based selection, twenty participants, encompassing ten teachers and ten parents, were recruited for this study. The study employed a qualitative case study design. The results found that implementing VHPEP involved various issues and challenges in class management, including limited student interaction, difficulty sustaining interest, ineffective assessment methods, and instances of student cheating. These challenges prompted teachers to shift their pedagogical practices, focusing on making adjustments and developing new strategies to ensure student participation. Additionally, the study found that teachers experienced anxieties and realized the importance of self-reflection, including the importance of implementing measures to mitigate anxieties, gaining new perspectives on teaching, and grappling with the unique difficulties and opportunities of the virtual teaching modality. This study also shed light on the diverse roles that parents played in supporting their children and collaborating with teachers. Lastly, the study identified crucial aspects for improving VHPEP. While this study gives much attention to valuable insights provided by teachers and parents as collaborative partners for a quality VHPEP, caution should be exercised because the research is based on specific contexts and individual experiences. [ABSTRACT FROM AUTHOR]

Copyright of European Journal of Psychotraumatology is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Obtaining a genetic diagnosis via genetic testing (GT) is a fundamental step in determining the eligibility of a patient to be enrolled in emerging clinical trials and research studies. Besides, the knowledge of genetic outcome allows patients to plan for significant life choices. However, critical barriers exist to an equitable access to genetic services globally. The objective of this study was to explore patient experiences while seeking genomic services for inherited retinal degenerations (IRDs). Methods: An online survey was designed based on a focus group conducted by Retina International and including people affected by IRDs and their families living in different regions around the world. The survey was then circulated to 43 Retina International member organisations globally via email newsletters and social networks. The survey involved questions in relation to the accessibility, affordability, and timeliness of genomic services for IRDs as well as patient perceived awareness of genomic services for IRDs among healthcare professionals. Results: A total of 410 respondents (IRD patients and caregivers) from over 30 countries across all continents responded to the survey. A considerable number of the patients had to go through a long and arduous journey to access GT and counselling services, wherein 40% had to visit more than 5 physicians, 27% had to visit more than 5 clinics, and 57% had to wait for more than 3 years before obtaining a genetic diagnosis. Furthermore, 46% of respondents reported not receiving genetic counselling prior to undergoing GT, and 39% reported not receiving genetic counselling after undergoing GT. Over 3/4th of the participants reported that they did not have to pay for their genomic services for IRDs. Thirty-seven percent of the respondents reported that their eye care professionals (ECPs) were either not aware of GT, remained neutral, or did not encourage them to undergo GT. Conclusion: Patients with IRDs do not have equitable access to best practice GT and counselling services. Greater awareness and training regarding IRDs and the benefits of GT and genetic counselling for patients and families are needed among ECPs. A best practice model on access to genomic services for IRDs is required. [ABSTRACT FROM AUTHOR]

Introduction: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals. Methods: This is a single-center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed. Results: The median age at the first visit was 52 years (range, 31–76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull's eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p.Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs. Conclusion: In case of visual impairment with bull's eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians. [ABSTRACT FROM AUTHOR]

Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be difficult due to (1) the high number of benign and pathogenic variants in the gene; (2) the presence of many rare ABCA4 variants; (3) the presence of complex alleles for which phasing data are absent; (4) the extensive variable expressivity of this disease and (5) reduced penetrance of hypomorphic variants. Therefore, the classification of many variants in ABCA4 is currently of uncertain significance. Here, we complemented the ABCA4 Leiden Open Variation Database (LOVD) with data from ~11,000 probands with ABCA4-associated inherited retinal diseases from literature up to the end of 2020. We carefully adapted the ACMG/AMP classifications to ABCA4 incorporating ClinGen recommendations and assigned these classifications to all 2,246 unique variants from the ABCA4 LOVD to increase the knowledge of pathogenicity. In total, 1,248 variants were categorized with a likely pathogenic or pathogenic classification, whereas 194 variants were categorized with a likely benign or benign classification. This uniform and improved structured reclassification, incorporating the largest dataset of ABCA4-associated retinopathy cases so far, will improve both the diagnosis as well as genetic counselling for individuals with ABCA4-associated retinopathy. [ABSTRACT FROM AUTHOR]

The Ariel Space Mission aims to observe a diverse sample of exoplanet atmospheres across a wide wavelength range of 0.5 to 7.8 microns. The observations are organized into four Tiers, with Tier 1 being a reconnaissance survey. This Tier is designed to achieve a sufficient signal-to-noise ratio (S/N) at low spectral resolution in order to identify featureless spectra or detect key molecular species without necessarily constraining their abundances with high confidence. We introduce a P-statistic that uses the abundance posteriors from a spectral retrieval to infer the probability of a molecule's presence in a given planet's atmosphere in Tier 1. We find that this method predicts probabilities that correlate well with the input abundances, indicating considerable predictive power when retrieval models have comparable or higher complexity compared to the data. However, we also demonstrate that the P-statistic loses representativity when the retrieval model has lower complexity, expressed as the inclusion of fewer than the expected molecules. The reliability and predictive power of the P-statistic are assessed on a simulated population of exoplanets with H 2 -He dominated atmospheres, and forecasting biases are studied and found not to adversely affect the classification of the survey. [ABSTRACT FROM AUTHOR]

Copyright of Revija Šport is the property of Sport: Revija Za Teoreticna in Praticna Vprasanja Sporta and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article analyzes modern international approaches to using natural-climate solutions (NCS) for decarbonization and achieving net zero emissions. It is concluded that the existing or planned implementation of state regulation in the field of NCS is clearly insufficient to unlock the potential of NCS in Russia as a possible leader in a promising new market in the coming decades. Realizing this potential requires significant targeted work to adjust the regulation and reprioritization of forest management—from extracting wood from forests for processing to integrated forest management, including quantification and monetization of forest carbon sequestration ecosystem services. The target for increasing greenhouse gas removals in the area of land use, land use change and forestry (LULUCF) presented in the Long-term Low Emissions and Development Strategies until 2050 (LT LEDS) was analyzed for its achievability based on the activity and projects presented in Section 3 of the LT LEDS Operational Plan (OP) (first version). It is concluded that the draft LT LEDS operational plan in terms of ecosystem solutions raises a lot of questions due to its poor compliance with modern ideas about ecosystem adaptation and mitigation, the use of NCS, etc. This part of the LT LEDS OP requires significant revision and adaptation to modern requirements. It will also require significant revision of the currently implemented federal project "Preservation of Forests" and the state program "Development of Forestry" for their integration into the LT LEDS. The first step along this path could be calculation of the carbon footprint and carbon additionality of ongoing forestry activity in relation to the baseline scenario and the correction of forest restoration activity. [ABSTRACT FROM AUTHOR]

We compiled published peer-reviewed CO 2 , CH 4 , and N 2 O data on managed drained organic forest soils in boreal and temperate zones to revisit the current Tier 1 default emission factors (EFs) provided in the IPCC (2014) Wetlands Supplement: to see whether their uncertainty may be reduced; to evaluate possibilities for breaking the broad categories used for the IPCC EFs into more site-type-specific ones; and to inspect the potential relevance of a number of environmental variables for predicting the annual soil greenhouse gas (GHG) balances, on which the EFs are based. Despite a considerable number of publications applicable for compiling EFs being added, only modest changes were found compared to the Tier 1 default EFs. However, the more specific site type categories generated in this study showed narrower confidence intervals compared to the default categories. Overall, the highest CO 2 EFs were found for temperate afforested agricultural lands and boreal forestry-drained sites with very low tree stand productivity. The highest CH 4 EFs in turn prevailed in boreal nutrient-poor forests with very low tree stand productivity and temperate forests irrespective of nutrient status, while the EFs for afforested sites were low or showed a sink function. The highest N 2 O EFs were found for afforested agricultural lands and forestry-drained nutrient-rich sites. The occasional wide confidence intervals could be mainly explained by single or a few highly deviating estimates rather than the broadness of the categories applied. Our EFs for the novel categories were further supported by the statistical models connecting the annual soil GHG balances to site-specific soil nutrient status indicators, tree stand characteristics, and temperature-associated weather and climate variables. The results of this synthesis have important implications for EF revisions and national emission reporting, e.g. by the use of different categories for afforested sites and forestry-drained sites, and more specific site productivity categories based on timber production potential. [ABSTRACT FROM AUTHOR]

Loss of forest cover and derived effects on forest ecosystems services has led to the establishment of land management policies and forest monitoring systems, and consequently to the demand for accurate and multitemporal data on forest extent and structure. In recent years, spaceborne Light Detection and Ranging (LiDAR) missions, such as the Global Ecosystem Dynamics Investigation (GEDI) instrument, have facilitated the repeated acquisition of data on the vertical structure of vegetation. In this study, we designed an approach incorporating GEDI and airborne LiDAR data, in addition to detailed forestry inventory data, for estimating tree-growth dynamics for the Laurentides wildlife reserve in Canada. We estimated an average tree-growth rate of 0.32 ± 0.23 (SD) m/year for the study site and evaluated our results against field data and a time series of NDVI from Landsat images. The results are in agreement with expected patterns in tree-growth rates related to tree species and forest stand age, and the produced dataset is able to track disturbance events resulting in the loss of canopy height. Our study demonstrates the benefits of using spaceborne-LiDAR data for extending the temporal coverage of forestry inventories and highlights the ability of GEDI data for detecting changes in forests' vertical structure. [ABSTRACT FROM AUTHOR]

This contribution evaluates and examines the scope of 26 global carbon farming projects with a view to analyzing existing concepts for developing a business model for promoting carbon farming in order to generate valid carbon removal. It thus addresses an important aspect of the objectives of the European Green Deal. This study is based on a literature search analyzing four certification standards, an expert-based online survey, and an expert-based online workshop to evaluate different practice approaches identified by previous studies and additional information sources. The results highlight the theoretical potential of a result-based business model using agroforestry to fulfil the essential requirements to promote carbon farming for generating carbon removal. Although the study has limitations regarding the number of projects examined and experts consulted, there is a high probability that the underlying requirements could not be sufficiently fulfilled when translating them into practice. The identified concepts failed as a consequence of inadequate permanence assurance mechanisms, impractical measurement accuracy, poor precision in baseline scenarios, and lack of additionality. To remedy this, we recommend a shift away from a pure focus on promoting carbon farming to achieve carbon removal towards promoting the co-benefits of carbon farming. Further research should evaluate the extent to which stakeholders are interested in giving their financial backing to these co-benefits. [ABSTRACT FROM AUTHOR]

In this paper, we present YunMa, an exoplanet cloud simulation and retrieval package, which enables the study of cloud microphysics and radiative properties in exoplanetary atmospheres. YunMa simulates the vertical distribution and sizes of cloud particles and their corresponding scattering signature in transit spectra. We validated YunMa against results from the literature. When coupled to the TauREx 3 platform, an open Bayesian framework for spectral retrievals, YunMa enables the retrieval of the cloud properties and parameters from transit spectra of exoplanets. The sedimentation efficiency (f sed), which controls the cloud microphysics, is set as a free parameter in retrievals. We assess the retrieval performances of YunMa through 28 instances of a K2-18 b-like atmosphere with different fractions of H2/He and N2, and assuming water clouds. Our results show a substantial improvement in retrieval performances when using YunMa instead of a simple opaque cloud model and highlight the need to include cloud radiative transfer and microphysics to interpret the next-generation data for exoplanet atmospheres. This work also inspires instrumental development for future flagships by demonstrating retrieval performances with different data quality. [ABSTRACT FROM AUTHOR]

The Chinese Space Station Telescope (CSST) is a cutting-edge two-meter astronomical space telescope currently under construction. Its primary Survey Camera (SC) is designed to conduct large-area imaging sky surveys using a sophisticated seven-band photometric system. The resulting data will provide unprecedented data for studying the structure and stellar populations of the Milky Way. To support the CSST development and scientific projects related to its survey data, we generate the first comprehensive Milky Way stellar mock catalogue for the CSST SC photometric system using the TRILEGAL stellar population synthesis tool. The catalogue includes approximately 12.6 billion stars, covering a wide range of stellar parameters, photometry, astrometry, and kinematics, with magnitude reaching down to g=27.5 mag in the AB magnitude system. The catalogue represents our benchmark understanding of the stellar populations in the Milky Way, enabling a direct comparison with the future CSST survey data. Particularly, it sheds light on faint stars hidden from current sky surveys. Our crowding limit analysis based on this catalogue provides compelling evidence for the extension of the CSST Optical Survey (OS) to cover low Galactic latitude regions. The strategic extension of the CSST-OS coverage, combined with this comprehensive mock catalogue, will enable transformative science with the CSST. [ABSTRACT FROM AUTHOR]

This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient's phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning. [ABSTRACT FROM AUTHOR]

Copyright of European Journal of Psychotraumatology is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article highlights the profound impact of the COVID-19 pandemic on education and health, particularly highlighting the importance of proactive measures in both sectors. Topics include the shift to virtual instruction, the significance of physical health in education, and the potential of physical education (PE) to enhance public health.

Summary: A 9‐month‐old Thoroughbred colt was presented to the University College Dublin Veterinary Hospital for investigation of suspected neck pain. Clinical signs included severe dullness, bilateral mucopurulent nasal discharge, ptosis of the right eyelid, reduced range of motion of the neck and ataxia. Endoscopy of the medial compartment of both guttural pouches showed fungal‐like plaques, from which Aspergillus was cultured. Laser salpingopharyngeal fistulation was performed under standing sedation and the colt received treatment with oral potassium iodide. The colt developed bacteraemia post‐operatively which resolved after antimicrobial treatment. Serial endoscopic evaluation of the guttural pouches showed complete resolution of fungal plaques 4 months post‐operatively. Minimal neurologic deficits remained 6 months post‐operatively. This report highlights the importance of considering guttural pouch mycosis in young horses and those presenting with reduced range of neck motion and neck pain. It offers support for the use of salpingopharyngostomy as an effective treatment method for guttural pouch mycosis and documents its use in the case of bilateral disease confirmed by fungal culture. It also documents the recovery of a horse from GPM with associated severe neurological signs. [ABSTRACT FROM AUTHOR]

Three models of abundance dynamics for forest insects that depict the development of outbreak populations were analyzed. We studied populations of the Siberian silkmoth Dendrolimus sibiricus Tschetv. in Siberia and the Far East of Russia, as well as a population of the pine looper Bupalus piniarius L. in Thuringia, Germany. The first model (autoregression) characterizes the mechanism where current population density is dependent on population densities in previous k years. The second model considers an outbreak as analogous to a first-order phase transition in physical systems and characterizes the outbreak as a transition through a potential barrier from a low-density state to a high-density state. The third model treats an outbreak as an effect of stochastic resonance influenced by a cyclical factor such as solar activity and the "noise" of weather parameters. The discussion focuses on the prediction effectiveness of abundance dynamics and outbreak development for each model. [ABSTRACT FROM AUTHOR]

Purpose: We present a patient with CARD9 deficiency and allergic bronchopulmonary aspergillosis (ABPA)-like presentation. Methods: Following medical history taking and routine laboratory investigations, an inborn error of immunity was suspected, and the responsible variant was identified using Whole Exome Sequencing and confirmed by Sanger sequencing. Results: A 14-year-old Iranian female presented with a history of chest pain, productive cough, dyspnea, malaise, and recurrent fever. Imaging by computed tomography (CT scan), chest X-ray (CXR), bronchoscopy, transbronchial lung biopsy (TBLB), and histopathology findings led to a diagnosis of ABPA-like presentation. The genetic study showed an autosomal recessive homozygous mutation in the CARD9 gene. Clinical remission was achieved following the administration of voriconazole, which was continued as prophylaxis. Conclusions: This is the first-time report of a patient with inherited CARD9 deficiency and ABPA-like presentation due to Aspergillus Terrus. This study paves the way to elucidate immunological mechanisms underlying CARD9 deficiency and aspergillosis. [ABSTRACT FROM AUTHOR]

Aspergillus fumigatus is a ubiquitous, critical priority human fungal pathogen. Despite its clinical importance, there is limited knowledge regarding the variations of the genome within mitochondria, the powerhouse organelle within eukaryotic cells. In this study, we leveraged publicly available, raw, whole genome sequence data isolates from 1939 to investigate the variations in the mitochondrial genomes of A. fumigatus. These isolates were isolated from 22 countries on six continents, as well as from outer space and from within the International Space Station. In total, our analysis revealed 39 mitochondrial single nucleotide polymorphisms (mtSNPs) within this global sample, and, together, these 39 mtSNPs grouped the 1939 isolates into 79 mitochondrial multilocus genotypes (MLGs). Among the 79 MLGs, 39 were each distributed in at least two countries and 30 were each shared by at least two continents. The two most frequent MLGs were also broadly distributed: MLG11 represented 420 isolates from 11 countries and four continents and while MLG79 represented 418 isolates from 18 countries and five continents, consistent with long-distance dispersals of mitogenomes. Our population genetic analyses of the mtSNPs revealed limited differentiation among continental populations, but highly variable genetic differences among national populations, largely due to localized clonal expansions of different MLGs. Phylogenetic analysis and Discriminant Analysis of Principal Components of mtSNPs suggested the presence of at least three mitogenome clusters. Linkage disequilibrium, Index of Association, and phylogenetic incompatibility analyses collectively suggested evidence for mitogenome recombination in natural populations of A. fumigatus. In addition, sequence read depth analyses revealed an average ratio of ~20 mitogenomes per nuclear genome in this global population, but the ratios varied among strains within and between certain geographic populations. Together, our results suggest evidence for organelle dynamics, genetic differentiation, recombination, and both widespread and localized clonal expansion of the mitogenomes in the global A. fumigatus population. [ABSTRACT FROM AUTHOR]

Inosine monophosphate dehydrogenase (IMPDH) is a key regulatory enzyme in the de novo synthesis of the purine base guanine. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentosa (adRP). This study reports a novel variant in a family with IMPDH1-associated retinopathy. We also performed a comprehensive review of all reported IMPDH1 disease causing variants with their associated phenotype. Multimodal imaging and functional studies documented the phenotype including best-corrected visual acuity (BCVA), fundus photograph, fundus autofluorescence (FAF), full field electroretinogram (ffERG), optical coherence tomography (OCT) and visual field (VF) data were collected. A literature search was performed in the PubMed and LOVD repositories. We report 3 cases from a 2-generation family with a novel heterozygous likely pathogenic variant p. (Lys314Gln) (exon 10). The ophthalmic phenotype showed diffuse outer retinal atrophy with mild pigmentary changes with sparse pigmentary changes. FAF showed early macular involvement with macular hyperautofluorescence (hyperAF) surrounded by hypoAF. Foveal ellipsoid zone island can be found in the youngest patient but not in the older ones. The literature review identified a further 56 heterozygous, 1 compound heterozygous, and 2 homozygous variant. The heterozygous group included 43 missense, 3 in-frame, 1 nonsense, 2 frameshift, 1 synonymous, and 6 intronic variants. Exon 10 was noted as a hotspot harboring 18 variants. We report a novel IMPDH1 variant. IMPDH1-associated retinopathy presents most frequently in the first decade of life with early macular involvement. [ABSTRACT FROM AUTHOR]

Copyright of Mycosystema is the property of Mycosystema Editorial Board and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of An-Najah University Journal for Research, B: Humanities is the property of An-Najah National University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment. [ABSTRACT FROM AUTHOR]

Nucleic acid conjugation methodologies involve linking the nucleic acid sequence to other (bio)molecules covalently. This typically allows for nucleic acid property enhancement whether it be for therapeutic purposes, biosensing, etc. Here, we report a streamlined, aqueous compatible, on-column conjugation methodology using nucleic acids containing a site-specific amino-modifier. Both monophosphates and carboxylates were amenable to the conjugation strategy, allowing for the introduction of a variety of useful handles including azide, aryl, and hydrophobic groups in DNA. We find that an on-column approach is superior to post-synthetic template-directed synthesis, mainly with respect to product purification and recovery., (© 2024 The Author(s). ChemBioChem published by Wiley-VCH GmbH.)

Background: Uveal coloboma, a developmental eye defect, is caused by failed development of the optic fissure, a ventral structure in the optic stalk and cup where axons exit the eye and vasculature enters. The Hedgehog (Hh) signaling pathway regulates optic fissure development: loss-of-function mutations in the Hh receptor ptch2 produce overactive Hh signaling and can result in coloboma. We previously proposed a model where overactive Hh signaling disrupts optic fissure formation by upregulating transcriptional targets acting both cell- and non-cell-autonomously. Here, we examine the Netrin family of secreted ligands as candidate Hh target genes., Results: We find multiple Netrin ligands upregulated in the zebrafish ptch2 mutant during optic fissure development. Using a gain-of-function approach to overexpress Netrin in a spatiotemporally specific manner, we find that netrin1a or netrin1b overexpression is sufficient to cause coloboma and disrupt wild-type optic fissure formation. We used loss-of-function alleles, CRISPR/Cas9 mutagenesis, and morpholino knockdown to test if loss of Netrin can rescue coloboma in the ptch2 mutant: loss of netrin genes does not rescue the ptch2 mutant phenotype., Conclusion: These results suggest that Netrin is sufficient but not required to disrupt optic fissure formation downstream of overactive Hh signaling in the ptch2 mutant., (© 2024 The Author(s). Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.)

Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1-10 kb. These deletions primarily affect energy supply through impaired oxidative phosphorylation and reduced ATP production. This impairment gives rise to dysfunction of several tissues, in particular those with high energy demand like brain and muscles. Over the past decades, changes in respiratory chain complexes and energy metabolism have been emphasized, whereas little attention has been paid to other reports on ROS overproduction, protein synthesis inhibition, myelin vacuolation, demyelination, autophagy, apoptosis, and involvement of lipid raft and oligodendrocytes in KSS. Therefore, this paper draws attention towards these relatively underemphasized findings that might further clarify the pathologic cascades following deletions in the mtDNA., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Accurate interpretation of sequence variants in inherited retinal dystrophy (IRD) is vital given the significant genetic heterogeneity observed in this disorder. To achieve consistent and accurate diagnoses, establishment of standardized guidelines for variant interpretation is essential. The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant interpretation serve as the global "cross-disease" standard for classifying variants in Mendelian hereditary disorders. These guidelines propose a systematic approach for categorizing variants into 5 classes based on various types of evidence, such as population data, computational data, functional data, and segregation data. However, for clinical genetic diagnosis and to ensure standardized diagnosis and treatment criteria, additional specifications based on features associated with each disorder are necessary. In this context, we present a comprehensive framework outlining the newly specified ACMG/AMP rules tailored explicitly to IRD in the Japanese population on behalf of the Research Group on Rare and Intractable Diseases (Ministry of Health, Labour and Welfare of Japan). These guidelines consider disease frequencies, allele frequencies, and both the phenotypic and the genotypic characteristics unique to IRD in the Japanese population. Adjustments and modifications have been incorporated to reflect the specific requirements of the population. By incorporating these IRD-specific factors and refining the existing ACMG/AMP guidelines, we aim to enhance the accuracy and consistency of variant interpretation in IRD cases, particularly in the Japanese population. These guidelines serve as a valuable resource for ophthalmologists and clinical geneticists involved in the diagnosis and treatment of IRD, providing them with a standardized framework to assess and classify genetic variants., (© 2024. The Author(s).)