Dominant Condition Research Articles

Universal Snow Avalanche Modeling Index Based on SAFI–Flow-R Approach in Poorly-Gauged Regions

Most high-mountain regions worldwide are susceptible to snow avalanches during the winter or all year round. In this study, a Universal Snow Avalanche Modeling Index is developed, suitable for determining avalanche hazard in mountain regions. The first step in the research is the collection of data in the field and their processing in geographic information systems and remote sensing. In the period 2023–2024, avalanches were mapped in the field, and later, avalanches as points in geographic information systems (GIS) were overlapped with the dominant natural conditions in the study area. The second step involves determining the main criteria (snow cover, terrain slope, and land use) and evaluating the values to obtain the Snow Avalanche Formation Index (SAFI). Thresholds obtained through field research and the formation of avalanche inventory were used to develop the SAFI index. The index is applied with the aim of identifying locations susceptible to avalanche formation (source areas). The values used for the calculation include Normalized Difference Snow Index (NDSI > 0.6), terrain slope (20–60°) and land use (pastures, meadows). The third step presents the analysis of SAFI locations with meteorological conditions (winter precipitation and winter air temperature). The fourth step is the modeling of the propagation (simulation) of other parts of the snow avalanche in the Flow-R software 2.0. The results show that 282.9 km2 of the study area (Šar Mountains, Serbia) is susceptible to snow avalanches, with the thickness of the potentially triggered layer being 50 cm. With a 5 m thick snowpack, 299.9 km2 would be susceptible. The validation using the ROC-AUC method confirms a very high predictive power (0.94). The SAFI–Flow-R approach offers snow avalanche modeling for which no avalanche inventory is available, representing an advance for all mountain areas where historical data do not exist. The results of the study can be used for land use planning, zoning vulnerable areas, and adopting adequate environmental protection measures.

An Invasive Predator Substantially Alters Energy Flux Without Changing Food Web Functional State or Stability

ABSTRACTUnderstanding how invasive species affect the stability and function of ecosystems is critical for conservation. Here, we quantified the effect of an actively suppressed invasive species on the Yellowstone Lake ecosystem using a food web energetics approach. We compared energy flux, functional state, and stability of four food web states: a pre‐invasion network and three post‐invasion networks undergoing active invasive species suppression, namely, initial invasion, expansion, and decline. Invasion caused ≥ 25% change (±) in energy flux for most consumers, and total flux increased twofold post‐invasion. Flux to the species of conservation concern, Yellowstone cutthroat trout (Oncorhynchus virginalis bouvieri), was 2.8 times less post‐invasion versus pre‐invasion, whereas invasive lake trout (Salvelinus namaycush) flux was up to 17.3 times higher compared to the initial invasion network. The dominant functional state and food web stability did not change post‐invasion, likely due to introduction of a generalist predator and the stabilizing effect of suppression. Lake trout invasion in Yellowstone Lake caused large changes to energy flux, shifting dominant fluxes away from the species of conservation concern, despite not changing functional state or stability. We demonstrate that changes in energy flux may signal invasions in ecosystems, but functional state or stability may not necessarily reflect the magnitude of invasion influences. For invaded fish communities, a better understanding of how the invasive species control the food web beyond just the direct influence on prey can be achieved by investigating energy flux, functional state, and food web stability. Furthermore, evaluating the effect of suppression beyond the invasive species can demonstrate the far‐reaching value of suppression management actions for conservation.

Are we really hesitant toward routine immunization: Findings from a cross-sectional study in urban area in the tribal dominant state of India.

Vaccine hesitancy has been inching up and its root cause lies in the factors that influence the vaccination. The present study was conducted to find out the proportion and factors contributing to vaccine hesitancy for routine childhood vaccinations in the slum population. A community-based cross-sectional study was carried out among 210 children between the age group of 0 and 59 months residing in the urban slums of Ranchi in 2021. Data were collected during the household visit by interviewing the parents using a predesigned pretested interview schedule which was developed based on the validated version of the vaccine hesitancy survey questionnaire originally developed by the World Health Organization Strategic Advisory Group of Experts' working group on vaccine hesitancy. Associations between variables were analyzed using logistic regression. A total of 210 children whose parents had given consent were included in our study. The majority of the families, 188 (89.5%), were not hesitant while only 22 (10.5%) were vaccine hesitant. Tribal children and unreserved category children had adjusted odds ratio of 4.41 (95% CI, 1.61-45.46) and 7.75 (95% CI, 1.07-56.08) for the delay as against their reference category. Most of the children were vaccinated in our study area and the families have shown confidence in vaccines. Although there were delays in vaccination and the reasons for the delays must be addressed to prevent these vaccine-hesitant populations from turning into vaccine-refusal population. Uniformity in vaccination days in different health facilities in slum areas, appropriate antenatal information, and counseling regarding childhood vaccinations, widespread awareness, and improving mother's education can help address the issue of vaccine hesitancy.

Marine Fe cycling linked to dynamic redox variability, biological activity and post-depositional mineralization in the 1.1 Ga Mesoproterozoic Taoudeni Basin, Mauritania

The concentration of redox sensitive trace metals (RSTEs) and their isotopic composition preserved in Precambrian marine sediments, are critical for the reconstruction of ocean–atmosphere oxygenation history. Particularly, the concentration of Fe, its redox speciation, and isotopic distribution, have gained widespread use for inferring the biogeochemical processes that controlled Fe cycling in Precambrian oceans linked to the reconstruction of Earth surface redox budget. However, questions remain about the biotic and abiotic processes involved in Fe cycling in these ancient oceans, including the impact of post-depositional alterative processes on the reliability of the Fe redox proxy. Here we present a multi-proxy mineralogical and geochemical study of the ∼1.1 Ga Atar and El Mreiti strata of the Taoudeni Basin in Mauritania, to better constrain pathways involved in Fe cycling, linked to Fe mineralogy, redox speciation, isotopic ratios during this time and metamorphism. We compare unmetamorphosed sedimentary deposits with facies metamorphosed by dolerite sill intrusion. The results reveal the occurrence of diagenetic Fe minerals in the basal unmetamorphosed samples associated with light δ56Fe signatures, reflecting dominant anoxic conditions that promoted microbial dissimilatory Fe reduction. Notably, δ56Fe composition of these rocks reveal several fluctuations in evolving seawater redox state from oxic to anoxic/sulfidic conditions associated with changes in sea level stand and periods of full bottom water oxygenation and redox stratification. Overall, Ce anomalies suggest a general up sequence increase in seawater oxygen content. Metamorphosed rocks display heterogeneous δ56Fe distribution, consisting of light and heavy signatures associated with secondary Fe-bearing minerals produced by metamorphic and metasomatic overprinting of carbonated rocks by hot circulating fluids. The results thus indicate metamorphic overprinting of primary seawater δ56Fe promoted by increased mobility of reactive Fe during post-depositional metamorphic transformation. They show that post-depositional metamorphic/metasomatic overprinting complicates direct reconstruction of seawater biogeochemical Fe cycling and redox state using δ56Fe systematics.

Traidores a la patria: Reconfiguring the nation through (un)patriotic discourse in the Dominican Republic

AbstractIn June 2020 anti‐racist activists in the Dominican Republic holding a vigil for George Floyd, who was brutally murdered by the police in the United States, were assaulted by right‐wing ultranationalists and detained by the national police. An event that was meant to express transnational solidarity was seen as a threat by ultranationalists who over the past decades supported anti‐Haitian and anti‐Black state policies that have contested the rights of Dominicans of Haitian descent to Dominican nationality and citizenship. This article explores how through the Dominican state's refashioning of the legal and juridical apparatus, as well as the support of self‐proclaimed Dominican nationalists, interpretations of Dominican national belonging are being contested and reimagined through the use of words such as traidor (traitor) and haitiano (Haitian). These terms code proper nationalism and Dominicanness as mixed‐race, Hispanic, and anti‐Haitian, as well as pro‐Dominican sovereignty, therefore against international human rights organizations.

Fast nonlinear scattering of runaway electron beams through resonant interactions with plasma waves

Abstract The resonant interaction between a runaway electron (RE) beam and a reactor-grade background plasma is investigated through two-dimensional particle-in-cell simulations, employing a simplified model of the system. The temporal evolutions of the electron momentum distribution function for two separate initial beam energies (1 and 10 MeV) are tracked, revealing the occurrence of plasma wave growth concomitant with pitch angle scattering or momentum distribution diffusion within the RE beam. Notably, we identify and confirm the dependence of the dominant resonance condition on the initial kinetic energy of the RE beam. Furthermore, we quantify the effect of particle-wave interactions on the RE momentum distribution diffusion by assessing the average kinetic energy flux from the RE distribution function.

Producing accountability with autonomy in Denmark and England: the analytical potential of assemblage theory with critical realism in comparative education

ABSTRACT School autonomy with accountability (SAWA) reforms have developed in diverse forms in Northern Europe. Following processes of decentralization to the municipal and school levels, quality assurance and inspection became key to the test-based accountability agendas of Denmark and England respectively. With an abductive approach, we explore the epistemological potential of a hybrid theoretical framework, which combines assemblage theory with critical realism, to analyze the production stories of these two policy instruments. Drawing on data from an international comparative research project, and more recent policy document analyses, we examine the arrangement of social entities – discourses, instruments, technologies, artefacts, and actors – that led to particular accountability outcomes within these specific educational assemblages. We argue that, despite distinctions in their social entities, the dominant state assemblages of accountability in Denmark and England have been captured by the global SAWA and capitalist assemblages at distinct times. Although school actors are incorporated into, and antagonistic towards, the state assemblages, change is limited due to the resilience of the underlying logic of epistemic governance and the desire to improve educational standards for a global knowledge economy. We conclude briefly with an assessment of the utility of the hybrid framework to the comparison of SAWA.

On [formula omitted]-expectations and filtration-consistent nonlinear expectations

In this paper, we obtain a comparison theorem and an invariant representation theorem for backward stochastic differential equations (BSDEs) without any assumption on the second variable z. Using the two results, we further develop the theory of g-expectations. Filtration-consistent nonlinear expectation (F-expectation) provides an ideal characterization for the dynamical risk measures, asset pricing and utilities. We propose two new conditions: an absolutely continuous condition and a (locally Lipschitz) domination condition. Under the two conditions respectively, we prove that any F-expectation can be represented as a g-expectation. Our results contain a representation theorem for n-dimensional F-expectations in the Lipschitz case, and two representation theorems for 1-dimensional F-expectations in the locally Lipschitz case, which contain quadratic F-expectations.

Analysis of the main physical condition factors in petanque

Physical condition is a crucial factor in enhancing athlete performance. Athletes with good physical condition have a greater chance of reaching peak performance. This research aims to analyze the dominant physical condition factors of petanque athletes in Central Java. The research utilized tests and measurements on a sample of 58 athletes and employed confirmatory analysis techniques. The results indicate that seven factors influence petanque skills. Body height has a correlation value of 1.352 with a significance value of 0.000. Arm length has a correlation value of -0.641 with a significance value of 0.015. Palm length has a correlation value of -0.573 with a significance value of 0.002. Arm muscle strength has a correlation value of 0.041 with a significance value of 0.000. Hand-eye coordination has a correlation value of 3.017 with a significance value of 0.000. Grip strength has a correlation value of -0.233 with a significance value of 0.008. Static balance has a correlation value of 0.359 with a significance value of 0.000. However, two factors do not significantly influence the playing skills of petanque athletes in Central Java: trunk flexibility, which has a correlation value of -0.15 with a significance value of 0.159, and endurance, with a correlation value of 0.085 and a significance value of 0.359. In conclusion, the main physical condition factors in petanque include body height, arm length, palm length, arm muscle strength, hand-eye coordination, grip strength, and static balance. The novelty of this research lies in its potential use by coaches as a reference for providing appropriate training to improve the physical condition of petanque athletes. This study is limited to petanque athletes in Central Java. Keywords: athletes, petanque, physical condition.

Observation of tungsten emission spectra up to W46+ ions in the Large Helical Device and contribution to the study of high-Z impurity transport in fusion plasmas

Spectroscopic studies of emissions released from tungsten ions combined with a pellet injection technique have been conducted in Large Helical Device for contribution to the tungsten transport study in tungsten divertor fusion devices and for expansion of the experimental database of tungsten line emissions. The spectral intensities of W5+, W24+–W28+, W37+, W38+, W41+–W43+, W45+, and W46+ emission lines were measured simultaneously over a wide wavelength range from x-ray to visible. Time evolutions of the various tungsten line spectra indicate that the tungsten confinement time depends on the electron density of the plasma and is long in high density plasmas, on the order of seconds, and short in low density plasmas, on the order of sub-seconds. When the confinement time was long, the tungsten ions remained in the plasma until the end of the discharge, changing their dominant charge with the change in electron temperature. When the confinement time was short, the tungsten ions rapidly decreased in all charge states and disappeared. Space-resolved EUV and visible spectroscopy measurements have revealed that tungsten ions stayed in the core region of the plasma with changing their dominant charge state depending on the electron temperature in the discharges with the long confinement time. Detailed analysis of soft x-ray emission suggested that the confinement time increases with density and becomes saturated when the central electron density exceeds 2 × 1013 cm−3.

Cold mountain stream chironomids (Diptera) of the genus Diamesa indicate both historical and recent climate change.

Chironomids of the genus Diamesa (Meigen, 1835, Diptera: Chironomidae) inhabit cold, oxygen-rich running waters. We have investigated the presence of Diamesa and other freshwater macroinvertebrates at 22 stream sampling sites in 3 European high mountain regions (the Central Pyrenees, the Ötztal Alps, and the Tatra Mountains) to establish suitable temperature conditions for Diamesa dominance. It has been generally accepted that their high abundance was linked to the presence of glaciers; however, we have shown that in the Tatra Mountains, where there are no glaciers, the conditions for the dominance of Diamesa species are created due to permanent snowfields, the geographical orientation of the valley and shading by the surrounding high peaks. The historical connection of Diamesa to glaciers was investigated from the paleolimnological records of subfossil chironomid assemblages from the Bohemian Forest, where glaciers disappeared before or during the Late Glacial period. As expected, water temperature seems to be the main driver of Diamesa distribution, and we determined that the relative abundance of Diamesa species was significantly higher at the sites with a mean July water temperature below 6.5 °C. The Diamesa-dominated stream communities seems to be endangered due to ongoing climate warming and this assumption is supported by our paleolimnological results from the Bohemian Forest lakes, where Diamesa has disappeared due to warming of lake inflows at the beginning of the Holocene. These findings strengthen the former suggestions that some Diamesa species could be used as an indicator for tracking recent environmental changes in vulnerable ecosystems of cold mountain streams.

Rural idyll in a global creative city: gentrification, cultural governance and creative placemaking

ABSTRACT This paper examines the on-the-ground process of creative city making in the Global South. It highlights the role of the state in the development of creative cities in the Chinese context, with a specific focus on how the state has instrumentalized arts and culture in remaking old villages into creative space. Through a case study of a state-led development project of an artist village in Shenzhen, it is revealed that the local government has devised a myriad of localized practices and strategies to realize the project of creating a print art cluster in a rambling peri-urban environment. State-led rural gentrification is co-opted to generate an idyllic rural landscape replete with heritage houses to attract artists to settle, while cultural governance is implemented to redefine rural aesthetics and discipline creative production and artist practices in the village. Our study unravels that cultural production and placemaking are significantly shaped by a dominant state in highly contingent ways and may lead to contingent outcomes. While state-led culture-oriented gentrification is often deployed to attract investment and develop real estate, it also functions as a creative placemaking strategy to develop public cultural projects, civilize the public, and rebrand the city as a global creative hub.

Production of pentaquarks with hidden charm and double strangeness in Ξb and Ωb decays

Recently, several pentaquark states Pcss, with global flavor c¯cssn, have been predicted within a theoretical framework based on unitary coupled channels. We study theoretically the feasibility to observe the Pcss with I(JP)=12(12−) in the decays Ξb0→ηηcΞ0 and Ωb−→K−ηcΞ0. Indeed, within the model, the ηcΞ0 channel is the lowest mass pseudoscalar-baryon channel to which this pentaquark state couples, thus we can expect to observe its signal in the ηcΞ0 invariant mass distribution of the mentioned decays. We identify the dominant weak decay processes and then implement the hadronization into the different meson-baryon channels in the final state, linked by flavor symmetry. The dominant meson-baryon final state interaction is then implemented to generate the full amplitude, implicitly accounting for the dynamical emergence of the pentaquark states. We obtain a clear Breit-Wigner-like resonant signal in the spectrum of the Ωb− decay, exceeding that in the Ξb0 decay by two to three orders of magnitude. In the case of the latter decay, the resonant state would manifest as a significant dip in the spectrum. We study the feasibility of searching for these b-hadron decay modes and analyzing their resonant components using the current and future data samples from the LHCb experiment. Published by the American Physical Society 2024

CffDNA screening for Niemann-pick disease, type C1: a case series.

Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions. This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene. We aim to illustrate the significant benefits of AR cffDNA screening in managing high-risk pregnancies, specifically where biallelic pathogenic variants in NPC1 cause Niemann-Pick disease, type C1 (NPC), a disorder marked by progressive neurodegeneration. Three participants for this study were recruited and gave consent to a hospital in Saudi Arabia. These participants were either carriers of NPC or had a first- or second-degree relative affected by the disorder. No specific criteria were set for the age of the participants. All were between 15 and 18 weeks of gestation. Using amplicon-based next-generation sequencing (NGS), we analyzed the zygosity and variants in cffDNA extracted from maternal peripheral blood. After amplicon NGS, analysis was completed by a custom data analysis pipeline that included in-house-built data processing scripts and commonly used software packages. Importantly, the results were not disclosed to the patients. Our findings showed that in all three cases, AR cffDNA screening results were consistent with standard invasive diagnostic testing. This screening method offers several advantages: it provides critical information to families earlier in the pregnancy compared to invasive diagnostic tests, and it helps to alleviate parental anxiety. Moreover, this non-invasive method can determine pregnancy status in the first trimester for known familial variants. Future research may extend this approach to screen for known disease-causing variants in common AR conditions.

Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up

Background and study aims: Lynch syndrome (LS) is a hereditary autosomal dominant condition, with an increased lifetime risk of developing malignancies including colorectal cancer (CRC). Current guidelines differ in recommended colonoscopy-surveillance intervals from 1 to 2 years. Although colonoscopy is considered a safe procedure, there are risks of severe adverse events (SAEs), such as perforation and bleeding, as well as adverse events (AEs), such as abdominal discomfort and post-colonoscopy gastrointestinal infections. Colonoscopy-related bleeding and perforation rates have been reported 0.17% and 0.11%, respectively. However, there are insufficient data regarding complications of colonoscopy-surveillance for LS patients. This study aims to investigate the risk of AEs among LS patients during colonoscopy in the Stockholm region. Patients and methods: This retrospective cohort study includes 351 LS patients undergoing endoscopic surveillance at the Karolinska University Hospital, August 1989 – April 2021. Data from endoscopic surveillance colonoscopies were extracted from patients’ medical records. Results: Of 1873 endoscopies in 351 LS patients, 12 complications (AEs) were documented within 30 days (0.64%) and with a total of 3 bleedings (SAEs, 0.16%). No perforations were identified. Conclusion: Colonoscopy surveillance for LS patients shows a comparatively low risk of AEs per-examination. Colonoscopy complications per-patient, including both SAEs and AEs, show a significantly higher risk. Colonoscopy complications only including SAEs, show a comparatively low risk. Understanding the lifetime risk of surveillance-related colonoscopy complications is important when designing targeted surveillance programmes.

Vortex Magnetic Domain State Behavior in the Day Plot

AbstractThe ability of rocks to hold a reliable record of the ancient geomagnetic field depends on the structure and stability of magnetic domain‐states contained within constituent particles. In paleomagnetic studies, the Day plot is an easily constructed graph of magnetic hysteresis parameters that is frequently used to estimate the likely magnetic recording stability of samples. Often samples plot in the region of the Day plot attributed to so‐called pseudo‐single‐domain particles with little understanding of the implications for domain‐states or recording fidelity. Here we use micromagnetic models to explore the hysteresis parameters of magnetite particles with idealized prolate and oblate truncated‐octahedral geometries containing single domain (SD), single‐vortex and occasionally multi‐vortex states. We show that these domain states exhibit a well‐defined trend in the Day plot that extends from the SD region well into the multi‐domain region, all of which are likely to be stable remanence carriers. We suggest that although the interpretation of the Day plot and its variants might be subject to ambiguities, if the magnetic mineralogy is known, it can still provide some useful insights about paleomagnetic specimens' dominant domain state, average particle sizes and, consequently, their paleomagnetic stability.

How young children use manifest emotions and dominance cues to understand social rules: a registered report

ABSTRACT Given the complexity of human social life, it is astonishing to observe how quickly children adapt to their social environment. To be accepted by the other members, it is crucial to understand and follow the rules and norms shared by the group. How and from whom do young children learn these social rules? In the experiments, based on the crucial role of affective social learning and dominance hierarchies in simple rule understanding, we showed 15-to-23-month-olds and 3-to-5-year-old children videos where the agents’ body size and affective cues were manipulated. In the dominant rule-maker condition, when a smaller protagonist puts an object in one location, a bigger agent reacts with a positive reaction; on the contrary, when the smaller protagonist puts an object in another location, the bigger agent displays a negative reaction. In the subordinate rule-maker condition, the roles are shifted but the agents differ. Toddlers expect the protagonist to follow the rules (based on anticipatory looks), independent of the dominant status of the rule-making agent. Three-to-five-year-old pre-schoolers overall perform at the chance level but expect the protagonist to disobey a rule in the first trial, and obey the rule in the second trial if the rule-maker is dominant.

Single cell transcriptomic profiling identifies tumor-acquired and therapy-resistant cell states in pediatric rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a pediatric tumor that resembles undifferentiated muscle cells; yet the extent to which cell state heterogeneity is shared with human development has not been described. Using single-cell/nucleus RNA sequencing from patient tumors, patient-derived xenografts, primary in vitro cultures, and cell lines, we identify four dominant muscle-lineage cell states: progenitor, proliferative, differentiated, and ground cells. We stratify these RMS cells/nuclei along the continuum of human muscle development and show that they share expression patterns with fetal/embryonal myogenic precursors rather than postnatal satellite cells. Fusion-negative RMS (FN-RMS) have a discrete stem cell hierarchy that recapitulates fetal muscle development and contain therapy-resistant FN-RMS progenitors that share transcriptomic similarity with bipotent skeletal mesenchymal cells. Fusion-positive RMS have tumor-acquired cells states, including a neuronal cell state, that are not found in myogenic development. This work identifies previously underappreciated cell state heterogeneity including unique treatment-resistant and tumor-acquired cell states that differ across RMS subtypes.

Acute effects of fast, slow, and graded Suryanamaskar on cardiorespiratory and cardiac autonomic functions

BackgroundSuryanamaskar (SN) is a popular yogic practice due to its health benefits and fitness promises. This study aims to assess the acute effects of different paces of SN on cardiorespiratory responses and heart rate variability (HRV). MethodsIn this self-as-control comparative study, seventeen male yoga practitioners performed three rounds of SN at fast (FSN), slow (SSN), and graded (GSN) pace in a randomly allocated sequence. Cardiorespiratory responses and HRV kinetics were continuously monitored using a metabolic gas analyzer and heart rate sensor, respectively, and were analyzed by repeated-measures ANOVA and paired t-test. ResultsFSN involved the highest VO2, followed by GSN and SSN. Average HR (AHR) was significantly greater during FSN compared to SSN (p < 0.01; d = 0.81) and GSN (p < 0.05; d = 0.39). GSN demanded significantly higher (p < 0.05; d = 0.41) stroke volume compared to FSN. VO2, AHR, and energy expenditure (EE) showed a gradual increase across rounds in FSN and SSN, whereas in GSN those significantly reduced. SSN showed significantly lesser EE, fat% utilization, and METS as compared to FSN (p < 0.001) and GSN (p < 0.01). SSN also showed significantly reduced LF power (p < 0.01; d = 0.67), LF/HF ratio, and higher HF power than GSN and FSN. ConclusionFSN is more metabolically demanding compared to the other two paces. SSN is more effective in bringing a state of parasympathetic dominance and GSN brings progressive relaxation. The results provide insights into the acute HRV and cardio-metabolic responses to different SN paces suggesting its potential as a complementary therapy and to promote holistic health and well-being.

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

Cantu syndrome (CS) (OMIM #239850) is an autosomal dominant multiorgan system condition, associated with a characteristic facial phenotype, hypertrichosis, and multiple cardiovascular complications. CS is caused by gain-of-function (GOF) variants in KCNJ8 or ABCC9 that encode pore-forming Kir6.1 and regulatory SUR2 subunits of ATP-sensitive potassium (KATP) channels. A novel heterozygous ABCC9 variant, c.2440G>T; p.Gly814Trp, was identified in three individuals from a four generation Greek family. The membrane potential in cells stably expressing hKir6.1 and hSUR2B with p.Gly814Trp was hyperpolarized compared to cells expressing WT channels, and inside-out patch-clamp assays of KATP channels formed with hSUR2B p.Gly814Trp demonstrated a decreased sensitivity to ATP inhibition, confirming a relatively mild GOF effect of this variant. The specific location of the variant reveals an unrecognized functional role of the first glycine in the signature motif of the nucleotide binding domains in ATP-binding cassette (ABC) protein ion channels.