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2. Host–Guest Complexes of p-Sulfonato-calix[4]arene and Benzamidine: A Matter of Counterion and Aging in the Mother Liquor

Author

Kravets, Kateryna, Kravets, Mykola, and Danylyuk, Oksana

Abstract

p-Sulfonato-calix[4]arene is commercially available either as a sodium salt or as a sulfonic acid. We aimed to clarify the complexation and crystallization pathways of p-sulfonato-calix[4]arene with benzamidine ligand employing these two commercial forms of macrocyclic host. The additional aspect that we considered is what happens when initially formed crystals are kept in the mother solution simply over passing of time, allowing slow evaporation. This seems to be not as innocent as it intuitively appears. The “aging” of multicomponent crystals exposed to concentration changes of the dissolved components during crystal growth and partial evaporation of the mother solution can embrace different scenarios, including dissolution–recrystallization transformations. Our findings highlight the need of taking into account p-sulfonato-calix[4]arene counterion and crystal aging in the mother liquor as important variables for supramolecular and crystal design of host–guest complexes.

Published
2024
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3. TOOLS FOR DESIGNING COMPLEX SOFTWARE SYSTEMS BASED ON SPECIAL LINGUISTIC CONSTRUCTIONS AND ALGORITHMS FOR THEIR PROCESSING.

Author

Kravets, O. Ja., Aksenov, I. A., Redkin, Yu. V., Rahman, P. A., Mutin, D. I., Geoffroy, Amoa Kouadio-kan Armel, and Ermolova, M. A.

Subjects
DESIGN software, SYSTEMS software, SOFTWARE architecture, FORMAL languages, COMPUTER-aided design
Abstract

The article presents an approach to the design of complex software systems based on special linguistic constructions in the form of Backus-Nour forms and syntactic diagrams. The goal is to create special mathematical and software that would formally describe the components of the designed software system for the study of a complex object, as well as visually form the structure and algorithmic component of the system. As a result, a formal language for describing discrete-continuous objects has been developed, which ensures the unification of the display of static and dynamic objects by introducing a generalized "element" construction; special mathematical software has been created for the formal description of complex systems, allowing to obtain syntactic constructions of minimal complexity due to the orthogonality of linguistic means; algorithms for processing language constructions have been created that take into account the parallelism of the processes of the studied objects and ensure the automated creation of a class system of special software. [ABSTRACT FROM AUTHOR]

Published
2024

4. Efficiency of Using Silicon Dioxide Nanoparticles to Increase Wheat Productivity in Soil and Climatic Conditions of Western Siberia

Author

Tereshchenko, N. N., Makarov, B. I., Kravets, A. V., Lushchaeva, I. V., Minaeva, O. M., and Svetlichnyi, V. A.

Abstract

In this study, we investigated the effectiveness of silica nanoparticle (SiO2NP) suspension for pre-sowing inoculation of spring wheat seeds under soil and climatic conditions of the Western Siberia. We report that SiO2NP suspension at concentrations of 3 × 10−7% to 3 × 10−4% does not have a toxic effect on the culture of microalgae Chlorella vulgarisand spring wheat. On the contrary, seed inoculation with nanoparticles increased seed germination by 15–40% relative to the control. The green mass yield of wheat seedlings exposed to SiO2NPs also increased by 5–41% relative to the control. In field experiments, pre-sowing treatment of spring wheat with SiO2NPs at concentrations of 3.0 × 10−4%, 1.5 × 10−4%, and 0.3 × 10−4% increased the main morphometric parameters of plants, such as height and green mass. Seed inoculation with SiO2NPs improved plant productivity: the grain yield in the variant with the minimum (0.3 × 10−4%) and average (1.5 × 10−4%) concentrations of SiO2NPs grew by 20.1% and 18.4%, respectively. Plants inoculated with SiO2NPs showed higher resistance to root rot pathogens (Fusarium oxysporumand Bipolaris sorokiniana): the disease prevalence decreased by 16–33% and the disease incidence index grew by 7–14% relative to the control. Seed inoculation with SiO2NPs increased the content of protein and important biogenic elements such as potassium, calcium, sulfur, phosphorus, and silicon in the grain.

Published
2024
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5. Formation of Hydrophobic Coatings on the Surface of Track-Etched Membranes Using Magnetron Sputtering of Polymers in Vacuum

Author

Kravets, L. I., Altynov, V. A., Gainutdinov, R. V., Gilman, A. B., Satulu, V., Mitu, B., and Dinescu, G.

Abstract

Abstract: The surface properties and chemical structure of nanosized coatings deposited on the surface of polyethylene terephthalate track-etched membranes by magnetron sputtering of ultrahigh molecular weight polyethylene and polytetrafluoroethylene in a vacuum have been studied. Application of coatings leads to hydrophobization of surface of the original membranes, the degree of which depends on the type of polymer used for sputtering and the coating thickness. The use of this modification method causes smoothing of structural inhomogeneities of the surface layer of membranes, which is explained by the deposition of coatings in the pore channels at a certain depth from the inlet and the overlap of pores on the surface of modified membranes. In addition, the deposition of coatings on the surface of track-etched membranes leads to a change in the shape of pores. The pore diameter decreases significantly on the modified side and remains unchanged on the untreated side of the membrane, while the membrane pores acquire an asymmetrical (conical) shape. The study of chemical structure of coatings using X-ray photoelectron spectroscopy showed that they contain oxygen-containing functional groups owing to oxidation of the polymer matrix. The developed composite membranes can be used in membrane distillation processes for seawater desalination.

Published
2024
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6. Point-of-care ultrasonography in Ukraine: a survey of anesthesiologists-intensivists participating in ultrasonography courses

Author

Dieiev, Vladyslav, Dubrov, Sergii, Díaz-Gómez, José L., Stevens, Rom A., Salinas, Pedro, Gudzenko, Vadim, Matolinets, Nataliya, Kravets, Olga, Krishtafor, Daria, Pavlysh, Oleksandr, Cherniaiev, Stepan, and Pustavoitau, Aliaksei

Abstract

Purpose: Despite the potential value of point-of-care ultrasonography (POCUS) in resource-limited environments, it is not widely used in low- and middle-income countries compared with high-income countries. We sought to evaluate the current POCUS practice of Ukrainian anesthesiologists who attended POCUS courses to guide future POCUS training in Ukraine. Methods: We conducted a 25-question web-based survey. It was distributed to 255 participants of POCUS courses held in Ukraine in 2023. The survey sections described current POCUS practice, perception of POCUS value, POCUS skills self-assessment, and perceived barriers to implementing POCUS in clinical practice. Results: Two hundred and forty-four out of 255 course participants completed the survey, representing 214 unique respondents. Those who self-rated their skills identified themselves as either novices or beginners in areas of POCUS knowledge (118/157, 75%), image acquisition (110/158, 70%), image interpretation (117/158, 74%), and integration into clinical decision-making (105/155, 68%). Among all survey responders, 55% (118/214) reported using POCUS for vascular access procedures, 45% (97/214) for trauma assessment, and 44% (93/214) for regional anesthesia. Reported barriers to POCUS implementation included lack of ultrasound devices (101/214, 47%) and lack of trained faculty (112/214, 52%). Conclusion: Among anesthesiologists who participated in POCUS courses in Ukraine, the majority were in early stages of ultrasound practice. Respondents identified POCUS applications not currently practiced and evaluated barriers to POCUS use. Based upon these survey findings, we propose the following measures in Ukraine: 1) developing a standardized national POCUS curriculum; 2) increasing the number of experienced instructors of POCUS; and 3) acquiring ultrasound devices to support clinical applications of POCUS, especially in the Central, Southern, and Eastern regions.

Published
2024
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7. Versatile Method for Preparing Two-Dimensional Metal Dihalides.

Author

Qi, Rongrong, You, Yi, Grzeszczyk, Magdalena, Jyothilal, Hiran, Bera, Achintya, Laverock, Jude, Natera-Cordero, Noel, Huang, Pengru, Nam, Gwang-Hyeon, Kravets, Vasyl G., Burrow, Daniel, Toscano Figueroa, Jesus Carlos, Ho, Yi Wei, Fox, Neil A., Grigorenko, Alexander N., Vera-Marun, Ivan J., Keerthi, Ashok, Koperski, Maciej, and Radha, Boya

Published
2024
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8. MODELING OF NEURAL NETWORK MONITORING AGENT TO PREDICT TRAFFIC SPIKES AND AGENT TRAINING.

Author

Kravets, O. Ja., Aksenov, I. A., Redkin, Yu. V., Rahman, P. A., Kochegarov, M. V., Gorshkov, A. V., and Sorokin, S. A.

Subjects
DYNAMIC programming, MARKOV processes, PROBLEM solving, ALGORITHMS, TELECOMMUNICATION
Abstract

The article completes the study of solutions to the problem of creating distributed QoS monitoring control in IoT and IIoT telecommunications. A multi-agent architecture is used. For the proposed structure of the LSTM network, approaches to the process of its training (configuring the network configuration) are considered, based on the representation of this process in the form of a Markov decision-making process, which made it possible to solve the problem of determining the training times of the network within one epoch, as well as its retraining using a variant of the dynamic programming method -- the iteration algorithm by values, which In the future, it allows you to proceed to the synthesis of an iterative algorithm for dynamically configuring the parameters of the developed LSTM network. [ABSTRACT FROM AUTHOR]

Published
2024

9. High density VCM deformable mirror

Author

Jackson, Kathryn J., Schmidt, Dirk, Vernet, Elise, Tintori, Matteo, Gallieni, Daniele, Kravets, Pavel, Fumi, Pierluigi, Biasi, Roberto, Manetti, Mauro, Angerer, Gerald, and Andrighettoni, Mario

Published
2024
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10. DEVELOPMENT OF A NEURAL NETWORK MODEL OF AN INTELLIGENT MONITORING AGENT BASED ON A RECURRENT NEURAL NETWORK WITH A LONG CHAIN OF SHORT-TERM MEMORY ELEMENTS.

Author

Raheem, Osamah Adil, Aksenov, I. A., Redkin, Yu. V., Gorshkov, A. V., Sorokin, S. A., Atlasov, I. V., and Kravets, O. Ja.

Subjects
ARTIFICIAL neural networks, MACHINE-to-machine communications, RECURRENT neural networks, INTELLIGENT agents, INTELLIGENT networks, NEURAL development, INTERNET of things
Abstract

The article continues to review the approach to designing the architecture of a distributed information monitoring system and quality management of communication services provided by the infrastructures of the Internet of Things and the industrial Internet of Things, based on solutions that support machine-to-machine and human-machine interaction. The development of a neural network model of an intelligent monitoring agent based on a recurrent neural network with a long chain of short-term memory elements is proposed. The matrix structure of the LSTM network memory cell is proposed, which takes into account the spatio-temporal correlation of load parameters associated with the time lag of its propagation and is a matrix of connectivity of LSTM network hyperparameters and accumulated values of load parameters of monitoring nodes in the vicinity of a controlled monitoring node, taking into account the characteristics of the time series of propagation of load in stationarity moments.. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Qualität der ambulanten Palliativversorgung im Modell Westfalen-Lippe hinsichtlich der Zufriedenheit von Patienten und ihren Zugehörigen

Author

Bornemann, Reinhard, Kravets, Ludmila, and Lux, Eberhard A.

Abstract

Hintergrund:In Westfalen-Lippe besteht - im Unterschied zum sonstigen Bundesgebiet - die ambulante Palliativversorgung (APV) aus allgemeiner ambulanter (AAPV) und spezialisierter ambulanter Palliativversorgung (SAPV) im Rahmen eines innovativen Versorgungsmodells. Zehn Jahre nach Einführung sollte eine Standortbestimmung erfolgen, mit Fokus auf die Behandlungszufriedenheit von Patienten und deren Zugehörigen, sowie darauf, inwieweit sich das Modell unter städtischen versus ländlichen Versorgungskontexten bewährt.

Published
2024
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12. DESIGNING THE ARCHITECTURE OF A DISTRIBUTED SYSTEM FOR INFORMATION MONITORING OF IoT AND IIoT INFRASTRUCTURES TRAFFIC.

Author

Kravets, O. Ja., Atlasov, D. I., Gorshkov, A. V., Sidorenko, E. V., Mutina, E. I., Aksenov, I. A., and Redkin, Yu. V.

Subjects
ARCHITECTURAL design, INFORMATION storage & retrieval systems, TELECOMMUNICATION systems, COMMUNICATION infrastructure, COMPUTER network traffic, INTERNET of things
Abstract

The article considers an approach to designing the architecture of a distributed information monitoring and quality management system for communication services provided by the Internet of Things and Industrial Internet of Things infrastructures based on solutions supporting machine-tomachine and human-machine interaction. The choice of a neural network with long Short-Term memory (LSTM) is justified as a theoretical basis for modeling the active node of an information monitoring system. The developed structure of the LSTM network is presented, taking into account the spatial and temporal correlation of the obtained indicators at various observation points of the distributed information monitoring system. The criteria for evaluating the effectiveness of the proposed model for the conditions of information monitoring of non-stationary load in a mode close to real time are substantiated. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Surgical opioid-avoidance protocol: a postoperative pharmacological multimodal analgesic intervention in diverse patient populations.

Author

Votta-Velis, Gina, Daviglus, Martha L., Borgeat, Alain, Beckmann, Katharina, Ta, Andrew Q., Parker, John L., Kravets, Sasha, Garcia, Olga L., Pirzada, Amber, Gastala, Nicole, Valle, Valentina, Benken, Jamie J., Campara, Maya, Aguiluz, Gabriela, Memtsoudis, Stavros G., Giulianotti, Pier C., and Benedetti, Enrico

Abstract

Introduction This study evaluated the effect of a surgical opioid-avoidance protocol (SOAP) on postoperative pain scores. The primary goal was to demonstrate that the SOAP was as effective as the pre-existing non-SOAP (without opioid restriction) protocol by measuring postoperative pain in a diverse, opioid-naive patient population undergoing inpatient surgery across multiple surgical services. Methods This prospective cohort study was divided into SOAP and non-SOAP groups based on surgery date. The non-SOAP group had no opioid restrictions (n=382), while the SOAP group (n=449) used a rigorous, opioid-avoidance order set with patient and staff education regarding multimodal analgesia. A non-inferiority analysis assessed the SOAP impact on postoperative pain scores. Results Postoperative pain scores in the SOAP group compared with the non-SOAP group were non-inferior (95% CI: -0.58, 0.10; non-inferiority margin=-1). The SOAP group consumed fewer postoperative opioids (median=0.67 (IQR=15) vs 8.17 morphine milliequivalents (MMEs) (IQR=40.33); p<0.01) and had fewer discharge prescription opioids (median=0 (IQR=60) vs 86.4 MMEs (IQR=140.4); p<0.01). Discussion The SOAP was as effective as the non-SOAP group in postoperative pain scores across a diverse patient population and associated with lower postoperative opioid consumption and discharge prescription opioids. [ABSTRACT FROM AUTHOR]

Published
2023
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16. ALGORITHMS AND METHODS FOR MANAGING REQUEST FLOWS IN A DISTRIBUTED SERVICE SYSTEM.

Author

Kravets, O. Ja., Aksenov, I. A., Redkin, Yu. V., Mutin, D. I., Atlasov, I. V., and Zaslavskiy, A. A.

Subjects
SEARCH algorithms, MANAGEMENT information systems, SERVICE industries, INFORMATION resources management, INDUSTRIAL efficiency, DISTRIBUTED algorithms
Abstract

The article devoted to the approaches to algorithmization of the information management system of a distributed service enterprise. The study of the dependence of the optimal capacity of the service system center on the service area was carried out. The mechanism of optimization of the service area, taking into account organizational and economic constraints, as well as optimization of the service area for mobile sources of applications, is investigated. Processing customer requests must meet the requirements of efficiency, reliability, and efficiency of the corporate information network. In the presence of a single office of a service company, it is not always possible to find an optimal or close to optimal query processing algorithm in terms of performance. The problem of the optimal service area without taking into account restrictions in order to maximize the profit of the enterprise is considered. Models of the functioning of the decision-making subsystem for servicing requests by a service enterprise have been developed, differing in taking into account the service area and the spatial stationarity of customers. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Ultrafast Inertia-Free Switching of Double Magnetic Tunnel Junctions

Author

Dzhezherya, Yu., Polynchuk, P., Kravets, A., and Korenivski, V.

Abstract

We investigate the switching of a magnetic nanoparticle comprising the middle free layer of a memory cell based on a double magnetic tunnel junction under the combined effect of spin-polarized current and weak on-chip magnetic field. We obtain the timing and amplitude parameters for the current and field pulses needed to achieve 100 ps range inertia-free switching under least-power dissipation. The considered method does not rely on the stochastics of thermal agitation of the magnetic nanoparticle typically accompanying spin-torque switching. The regime of ultimate switching speed efficiency found in this work is promising for applications in high-performance nonvolatile memory.

Published
2024
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22. QUALITY ASSESSMENT IN A MULTI-LEVEL CONTROL SYSTEM WITH DISCRETE RESPONSE FUNCTIONS.

Author

Kravets, O. Ja., Bolnokin, V. E., Rahman, P. A., Atlasov, I. V., Aksenov, I. A., Redkin, Yu. V., and Zaslavskiy, A. A.

Subjects
DISCRETE systems, HEURISTIC algorithms, TOTAL quality management
Abstract

The article extends the authors' previous research to the case of discrete response functions. A process consisting of sequential operations is considered. For each operation, you can determine the currently available probability of its error-free (high-quality) execution. By the qualitative performance of the operation, we will understand the achievement of a given level of quality in quantitative proportion to the overall level. The purpose of the article is to build a quality management strategy in which a set of probabilities of quality levels not less than a certain threshold value is achieved, with minimal costs for carrying out appropriate measures. The corresponding optimization problem is presented and a heuristic multistep algorithm for its solution is given. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Early Identification of Post-Traumatic Stress Disorder in Trauma Patients: Development of a Multivariable Risk Prediction Model

Author

Kravets, Victoria, McDonald, Michael, DeRosa, Joel, Hernandez-Irizarry, Roberto, Parker, Ruth, Lamis, Dorian A., Powers, Abigail, and Schenker, Mara L.

Abstract

Background The purpose of this study was to build a risk prediction model to identify trauma patients at the time of injury who are at high risk for post-traumatic stress disorder (PTSD) 1 year later.Methods Patients 18+ with operative orthopedic trauma injuries were enrolled in prospective social determinants of health cohort. Data were collected through initial surveys, medical records at time of injury, and 1-year follow-up phone screenings. Univariate analysis examined associations between factors and PTSD at 1 year. The best fit multivariable logistic regression model led to a novel PTSD risk prediction tool based on weights assigned similar to the Charlson index methods.Results Of 329 enrolled patients, 87 (26%) completed follow-up surveys; 58% screened positive for chronic PTSD. The best fit model predicting PTSD included age, insurance, violent mechanism, and 2 acute stress screening questions (AUC .89). Using these parameters, the maximum possible TIPPS index was 19. Those with PTSD at 1 year had a mean TIPPS index of 12.9 ± 4.0, compared to 5.9 ± 4.2 for those who did not (P< .001).Discussion Traumatic injury often leads to PTSD, which can be predicted by a novel risk score incorporating age, insurance status, violent injury mechanism, and acute stress reaction symptoms. Stability in life and relationships with primary care physicians may be protective of PTSD.Level of Evidence Diagnostic level II.

Published
2023
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25. OPERATIONAL CONTROL OF PROBABILISTIC PROCESSES IN A MULTI-STAGE SPECIALIZED SYSTEM.

Author

Kravets, O. Ja., Aksenov, I. A., Rahman, P. A., Atlasov, I. V., Redkin, Yu. V., Frantsisko, O. Yu., and Zaslavskaya, O. Yu.

Subjects
TOTAL quality management
Abstract

A process consisting of sequential operations is considered. For each operation, you can determine the currently available probability of its error-free (high-quality) execution. By the qualitative performance of the operation, we will understand the achievement of a given level of quality in quantitative proportion to the overall level. The purpose of the article is to build a quality management strategy in which a set of probabilities of quality levels not less than a certain threshold value is achieved, with minimal costs for carrying out appropriate measures. The article presents the decomposition of operations into activities; classification of activities into activities with conditionally linear or asymptotic response; quality assessment in a multi-level control system with response functions of various types; optimization problems and their algorithmic solutions. [ABSTRACT FROM AUTHOR]

Published
2023
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26. Development of a Prototype of a 220Rn Gas Generator for Producing Radionuclide 212Pb

Author

Artyukhov, A. A., Artyukhov, A. A., Berezov, A. M., Ivliev, P. N., Korolev, K. O., Kravets, Ya. M., Kuznetsova, T. M., Lebedev, V. V., Makoveeva, K. A., Ryzhkov, A. V., Solovyov, S. F., and Chuvilin, D. Yu.

Abstract

Abstract: The paper describes the results of work on the creation of a prototype 212Pb generator obtained by the emanation method using the gaseous radionuclide 220Rn. The generator is technologically simple and has convenient operational characteristics. The efficiency of 220Rn isolation with this design is more than 90%, which indicates the acceptability of such type of sources for obtaining 212Pb of high radionuclide purity for the needs of nuclear medicine.

Published
2023
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27. IMPLEMENTATION AND EVALUATION OF THE EFFECTIVENESS OF DYNAMIC OBJECT DETECTION TOOLS FOR MULTITHREADED AND DISTRIBUTED PROCESSING OF GRAPHICAL DATA.

Author

Kravets, O. Ja., Aksenov, I. A., Atlasov, I. V., Rahman, P. A., Redkin, Yu. V., Frantsisko, O. Yu., and Bozhko, L. M.

Subjects
ELECTRONIC data processing, IMAGING systems, STRUCTURAL components
Abstract

Modern monitoring and operational decision-making systems based on image series have become widely used for a wide variety of applications. At the stage of identification of graphic objects, it is established that the found dynamic object belongs to the class of objects of interest based on a comparative analysis of its contours with a given template. The article is the final in a series of articles devoted to theoretical, algorithmic and software components of the video analytics system. The description of the structural components of the video analytics system, the features of the implementation of the dynamic object detection module on video sequences, and the evaluation of the efficiency of the system is presented. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Author

Kohler, Jennefer N., Legro, Nicole R., Baldridge, Dustin, Shin, Jimann, Bowman, Angela, Ugur, Berrak, Jackstadt, Madelyn M., Shriver, Leah P., Patti, Gary J., Zhang, Bo, Feng, Wenjia, McAdow, Anthony R., Goddard, Pagé, Ungar, Rachel A., Jensen, Tanner, Smith, Kevin S., Fresard, Laure, Alvarez, Raquel, Bonner, Devon, Reuter, Chloe M., McCormack, Colleen, Kravets, Elijah, Marwaha, Shruti, Holt, James M., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Sessions Cole, F., Colley, Heather A., Cope, Heidi, Corner, Brian, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Carl Pallais, J., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Ron Scott, C., Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Worthey, Elizabeth A., Ashley, Euan A., Montgomery, Stephen B., Fisher, Paul G., Postlethwait, John, De Camilli, Pietro, Solnica-Krezel, Lila, Bernstein, Jonathan A., and Wheeler, Matthew T.

Abstract

The function of FAM177A1and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1to be a critical immune-associated gene. One previous case study has linked FAM177A1to a neurodevelopmental disorder in 4 siblings.

Published
2024
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30. Associations between maternal exposure to surgery or pregnancy exposure to fluorinated anesthetics and children’s cognitive development and educational outcomes

Author

Kravets, Melissa E., Klebanoff, Mark A., and Keim, Sarah A.

Abstract

AbstractA transgenerational, epigenetic effect of anesthesia, particularly fluorinated agents, has been examined in rat models, but translation to humans is unclear. This study examined associations of maternal lifetime exposure to anesthesia and pregnancy exposure to fluorinated anesthetics with child cognitive and educational outcomes. Women in the US Collaborative Perinatal Project (1959–1963) reported lifetime history of surgeries, and the obstetric record captured pregnancy exposure to anesthetics. Children were followed to age 7 for global cognitive ability and educational outcomes (n=47,977). Logistic and linear regressions were adjusted for maternal and child birth years, race and ethnicity, smoking, education, parity, study site. Many outcomes were not associated with exposure to maternal surgery that occurred at various life stages. However, maternal surgery in early childhood was associated both with being in a special school or not in school (adj OR=1.42; 95% CI 1.02, 1.98) and with slightly better cognitive ability across childhood (e.g., WISC IQ (adj β=0.59; CI 0.13, 1.04) (especially among boys)). Maternal surgery in puberty was associated with slightly lower IQ (adj β= –0.42; CI –0.79, –0.05) and poorer spelling at age 7. Children’s prenatal exposure to fluorinated anesthetics was associated with slightly better spelling ability (adj β= 1.20; CI 0.02, 2.38) but lower performance IQ at age 7 (only among boys, adj β= –1.97; CI –3.88, –0.06). This study shows inconsistent evidence of effects of maternal exposure to surgery or prenatal exposure to fluorinated agents on child developmental and educational outcomes Residual confounding by indication and socioeconomic status may explain observed associations.

Published
2023
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33. ARCHITECTURE OF A VIDEO ANALYTICS SYSTEM USING PARALLEL PROCESSING.

Author

Gorshkov, A. V., Kravets, O. Ja., Aksenov, I. A., Redkin, Yu. V., and Atlasov, I. V.

Subjects
VIDEOS, STRUCTURAL components, IMAGING systems, COMPARATIVE studies
Abstract

Modern monitoring and operational decision-making systems based on image series have become widely used for a wide variety of applications. At the stage of identification of graphic images, the affiliation of the found dynamic object to the class of objects of interest is established on the basis of a comparative analysis of its contours with a given template. The article continues the cycle of research in which the identification process is considered and the algorithm of machine graphics is given. A description of the interaction of the structural components of the video analytics system is presented. [ABSTRACT FROM AUTHOR]

Published
2022

35. “Green structures” for effective rainwater management on roads

Author

Hlushchenko, Roman, Tkachenko, Tetiana, Mileikovskyi, Viktor, Kravets, Vasyl, and Tkachenko, Oleksii

Abstract

Rainwater management is one of the important problems of cities. At very strong downpours, storm sewer systems may not capture the rainwater, which floods pavements and roadways. The water flushes fuel and oil traces after vehicles, fallen debris, and other pollutants, which will be moved to the ground, ponds, rivers, seas, etc. In past, the problems were solved using engineering approaches – a set of rainwater receivers, a duct network, and at best, wastewater treatment plants. Now, the sponge city concept is a better solution that uses a biotechnological way for throttling water flows, drainage, and purifying them. The work aims to improve the design of roads to fully absorb rainwater from them with maximum convenience for road users. We propose a design of roads using special “green structures” – rain-garden bands along the sides of roadways. We tested its ability of water capturing on the example of Kyiv city by matching the ability with the strongest precipitation observed. In addition, the proposed plants can extinguish the energy of bouncing cars during road accidents for the protection of pavements.

Published
2022
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36. ALGORITHMIZATION OF IMAGE PROCESSING FOR IDENTIFICATION OF DYNAMIC OBJECTS.

Author

Kravets, O. Ja., Aksenov, I. A., Rahman, P. A., Redkin, Yu. V., Atlasov, I. V., and Zaslavskaya, O. Yu.

Subjects
IMAGE processing, MATHEMATICAL morphology, IMAGING systems, INTERPOLATION, ANALYTICAL solutions
Abstract

Modern monitoring and operational decision-making systems based on image series have become widely used for a wide variety of applications. At the stage of identification of graphic images, the affiliation of the found dynamic object to the class of objects of interest is established on the basis of a comparative analysis of its contours with a given template. The identification process is considered and the algorithm of machine graphics is given, including, firstly, image preprocessing using the Gauss smoothing operator, secondly, the search for object boundaries using the Kenny operator, thirdly, image post-processing for interpolation of the obtained discontinuous contours of the object using mathematical morphology operations and local processing of a set of contours. [ABSTRACT FROM AUTHOR]

Published
2022

38. ALGORITHMIZATION OF ANALYTICAL METHODS FOR FINDING MOTION VECTORS WHEN PROCESSING IMAGE SERIES.

Author

Kravets, O. Ja., Aksenov, I. A., and Rahman, P. A.

Subjects
IMAGE processing, SEARCH algorithms, IMAGE stabilization, IMAGING systems, ANALYTICAL solutions, CONTRADICTION
Abstract

Modern monitoring and operational decision-making systems based on image series have become widely used for a wide variety of applications. Among such systems, we will single out real-time monitoring, the requirements for an image processing system in which are very strict. At the same time, the traditionally high complexity of images is in contradiction with the need for fast processing. One of the ways to resolve the contradiction is to represent a series of images as a sequence of additions and changes to the previous image in the next. An important component of such a representation is the search for motion vectors and the corresponding algorithms for searching for such vectors. A new algorithm based on an analytical solution is obtained and provides a multiple compression ratio by eliminating the temporary redundancy of data determined by a high correlation between adjacent frames of video sequences. [ABSTRACT FROM AUTHOR]

Published
2022

43. SOVIETIZATION OF WESTERN UKRAINE (1939-1941) IN THE PUBLIC OPINION OF THE UKRAINIANS IN THE USA.

Author

Kravets, D.

Subjects
WORLD War II, PUBLIC opinion, UKRAINIANS, AMERICAN attitudes, UNITED States Congressional elections, WESTERN countries, WAR
Abstract

The paper deals with the attitude of American Ukrainians in 1939-1940 towards the Soviet occupation of Western Ukraine at the beginning of World War II. The public opinion of Western countries regarding the events of 1939‒1941 needs additional study and exploration. The research is based on the articles published in the US press and journals (both American and Ukrainian) regarding the issue of the Soviet occupation, as well as the archival documents of the Ukrainian institutions in Northern America, Congressional records of the United States Congress. The article describes the state of the Ukrainian diaspora in America in the 1930s, the international position of the USA at the beginning of World War II expecially in the context of the neutrality act and S. Welles' declaration. [ABSTRACT FROM AUTHOR]

Published
2022
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44. ALGORITHMIZATION OF THE SOFTWARE TESTING SYSTEM BASED ON FINITE AUTOMATA.

Author

Zozulya, M. M., Kravets, O. Ja., Atlasov, I. V., Aksenov, I. A., Bozhko, L. M., and Rahman, P. A.

Subjects
FINITE state machines, TEST systems, SYSTEMS software, BLOCK diagrams, SYSTEMS theory, MICROCONTROLLERS, COMPUTER software testing
Abstract

Software testing is one of the key stages in the development of a digital device based on a microcontroller. The article discusses the features of the implementation of algorithms for the functioning of the microcontroller software testing system based on finite automata. An enlarged block diagram of a testing system at the software and hardware levels is presented, a model of such a system using the theory of finite automata is presented. A detailed finite automaton for the testing process model has been formed, its states have been determined and algorithms for operation are given. [ABSTRACT FROM AUTHOR]

Published
2022

45. Loss-of-function in RBBP5results in a syndromic neurodevelopmental disorder associated with microcephaly

Author

Huang, Yue, Jay, Kristy L., Yen-Wen Huang, Alden, Wan, Jijun, Jangam, Sharayu V., Chorin, Odelia, Rothschild, Annick, Barel, Ortal, Mariani, Milena, Iascone, Maria, Xue, Han, Acosta, Maria T., Adams, David R., Raquel, Alvarez, L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Carvhalo Neto, George D., Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Hadley, Don, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Moore, Ryan M., Morava, Eva, Moretti, Paolo, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Huang, Jing, Mignot, Cyril, Keren, Boris, Saillour, Virginie, Mah-Som, Annelise Y., Sacharow, Stephanie, Rajabi, Farrah, Costin, Carrie, Yamamoto, Shinya, Kanca, Oguz, Bellen, Hugo J., Rosenfeld, Jill A., Palmer, Christina G.S., Nelson, Stanley F., Wangler, Michael F., and Martinez-Agosto, Julian A.

Abstract

Epigenetic dysregulation has been associated with many inherited disorders. RBBP5(HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.

Published
2024
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46. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Mulvihill, John J., Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Bernstein, Jonathan A., Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean-, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, and Zuchner, Stephan

Abstract

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Published
2024
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47. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Wangler, Michael F., Yamamoto, Shinya, Cole, F. Sessions, Rios, Jonathan, and Bellen, Hugo J.

Abstract

We identified 2 individuals with de novo variants in SREBF2that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2variants on SREBP pathway activation.

Published
2024
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48. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author

Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Tan, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Bellen, Hugo, and Mahoney, Rachel

Abstract

Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).

Published
2022
Full Text
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49. THE GENERAL SCHEME OF THE GENETIC ALGORITHM FOR SOLVING THE TASK SCHEDULING PROBLEM FOR A MULTISTAGE SYSTEM AND ASSIGNING TIME FOR JOBS.

Author

Oleinikova, S. A., Kravets, O. Ja., Aksenov, I. A., Frantsisko, O. Yu., Rahman, P. A., and Atlasov, I. V.

Subjects
PRODUCTION scheduling, BUILDING maintenance, GENETIC algorithms, PROBLEM solving, SCHEDULING, TASKS
Abstract

The object of the research is a project containing a set of mutually dependent jobs with a random duration of execution. A special feature of the task is the different duration of jobs by different performers. The goal is to build a maintenance schedule and assign specialists to each job, minimizing the duration of the project. Genetic algorithm was chosen as the method. The article describes the general scheme of solving the problem by a genetic algorithm and details some of its stages. [ABSTRACT FROM AUTHOR]

Published
2021

50. Deposition of Hydrophobic Polymer Coatings on the Surface of Track-Etched Membranes from an Active Gas Phase

Author

Kravets, L. I., Altynov, V. A., Yarmolenko, M. A., Gainutdinov, R. V., Satulu, V., Mitu, B., and Dinescu, G.

Abstract

Abstract: The surface properties and chemical structure of nanosized coatings deposited on the surface of poly(ethylene terephthalate) track-etched membranes using methods based on the plasma polymerization of organic compounds and the magnetron sputtering and electron-beam dispersion of polymers in a vacuum have been studied. It has been shown that the application of these methods using low surface energy compounds as precursors for modification provides the formation of hydrophobic coatings on the membrane surface. It has been shown that the deposition of coatings on the surface of track-etched membranes by the plasma polymerization and magnetron sputtering methods leads to the smoothing of structural heterogeneities. Coating deposition by the electron-beam dispersion of polymers, conversely, causes an increase in the surface roughness. The observed differences in the morphology of the surface layer of the composite membranes are attributed to the size of the deposited polymer nanostructures. It has been found that the chemical structure of the coatings deposited by the electron-beam dispersion of polymers is more similar to the structure of the original polymers than the structure of the coatings formed by plasma polymerization and high-frequency magnetron sputtering.

Published
2022
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