bluuebunny/crossref_metadata_2025 huggingface dataset:
The Role of Intestinal Microbiota in the Development of Cardiovascular Diseases. Diagnostic Methods and Correction (Review)
Authors:   Tyumen Cardiology Research Center, Branch of Tomsk National Research Medical Center, Russian Academy of Sciences, Valeeva Liana L. , Shcherbinina Anastasiya E. , Avdeeva Ksenia S. , Zueva Ekaterina V. , Petelina Tatiana I. , Lyapina Mariya V. ,   Tyumen Cardiology Research Center, Branch of Tomsk National Research Medical Center, Russian Academy of Sciences,   Tyumen State Medical University
Published: December 2024

Cardiovascular diseases (CVDs) remain the leading cause of death around the world, claiming the lives of over 17 million people annually. In Russia, CVDs occupy a central place among all causes of mortality and disability. Circulatory system diseases account for 57 % of the total mortality structure in Russia. Nearly 20 % of the population die at working age. In 90 % of cases, the cause of death is coronary heart disease or stroke. The purpose of this article was to review the existing knowledge of the role of intestinal microbiota in the development of CVDs, with an emphasis on laboratory testing of metabolites and the ways of treating dysbiosis according to scientific literature and guidelines. The sample included 607 works on the role of microbiota in the development of CVDs published between 2019 and 2023. The following databases were searched: Cyberleninka, eLIBRARY.RU, SpringerLink, Web of Science, Frontiers, Google Scholar and others. In the last 10 years, studies on the intestinal microbiome have shown that the human microbial ecosystem not only serves as an additional neuro-endocrine organ, but also plays an important role in the development and prevention of CVDs, circulatory pathologies, and serious metabolic disorders such as obesity, diabetes mellitus and metabolic syndrome, as well as thyroid and autoimmune diseases. In this regard, studies into the effect of microbiota on the development of CVDs using new biochemical markers of the qualitative composition of the microbiome and intestinal metabolome, demonstrating an association with the risk of developing CVDs, are viewed as extremely relevant. Probiotic and prebiotic agents combined with long-term physical training can be used to prevent the development and progression of CVDs and to personalize treatment.
On the issue of the ideological platforms of the Iranian political elite
Authors:   University of Tehran, Kaleji V.
Published: December 2024

The presented article on Iran's regional policy analyzes strategic priorities within the political situation of the Republic of Iran. The author analyzes the program documents of candidates for the upcoming early presidential elections. Various scenarios of the country's development in the event of each candidate coming to power are analyzed, issues of Iranian-Azerbaijani relations, Iranian-Chinese relations and Iranian-American relations are touched upon. The author examines the models of destabilizing migration to the states of Central Asia, Afghanistan and Pakistan. The problem of four ecological zones that affect the nature of border relations with Turkey, Afghanistan and Pakistan is touched upon.
The application of system analysis methods in assessing the quality of bakery products
Authors:   Samara State Technical University, Maloletkova Ya. V. , Susarev S. V. ,   Samara State Technical University
Published: December 2024

The food industry is a complex technological system in which automated control is required at every stage. The development of formulations for new functional products entails a number of difficulties associated with controlling the dosage of components and obtaining a product with appropriate quality indicators. Currently, a lot of research is being carried out on adding alternative raw materials to bakery products in order to increase the nutritional value of the final product and give it therapeutic and prophylactic properties. The paper describes the use of systems analysis methods in assessing the quality of bakery products. The assessment of the organoleptic quality indicators of the cake with the addition of Jerusalem artichoke flour was carried out using the Delphi method. The indicators are distributed in order of importance, taking into account the weight coefficient. An example of the final calculation of the score takimg into account the significance coefficient is presented using the example of a cupcake with the addition of 30% Jerusalem artichoke flour. This sample had the best ratings from a group of respondents of different ages, gender and level of education. Based on the results of the study, we can conclude that the use of systems analysis methods in the food industry is necessary to control the quality of products and objectively assess the quality indicators of the final product.
The experience of falsifying russian history in the context of the current confrontation between Russia and the West [review on the monograph of Karabushchenko PL, Vartumyan AA. The Anglo-Saxons. Falsification of political history (the experience of historical hermeneutics). Moscow: INFRA-M, 2023. 367 p.]
Authors:   Russian State University for the Humanities, Magomedov A. K. ,   Moscow State Linguistic Universit
Published: December 2024

This review aims to investigate the monograph by P.L. Karabushchenko and A.A. Vartumyan «The Anglo-Saxons. Falsification of political history (the experience of historical hermeneutics)» and analyze its significance in the framework of modern works on the study of information warfare. A large-scale study by Professor Pavel Karabushchenko of Astrakhan State University and Professor Arushan Vartumyan of the North-Caucasus Federal University is devoted to a problem that many domestic politicians, analysts and ordinary citizens consider key from the point of view of the future of Russia – the fight against distortions of Russian history and falsification of current Russian politics.
The North Caucasus in Russia's geopolitical strategy
Authors:   North-Caucasus Federal University, Pyatigorsk Institute (branch), Shebzukhova T. A. , Vartumyan A. A. ,   North-Caucasus Federal University, Pyatigorsk Institute (branch), Vasilyeva I. A. ,   North-Caucasus Federal University, Pyatigorsk Institute (branch)
Published: December 2024

The article reveals the geopolitical significance of the North Caucasus in the history of the Russian Empire, the Soviet Union and the post-Soviet period. The role and importance of the North Caucasus as a military defensive frontier, which allows controlling important transport routes and exerting influence in neighboring countries and regions, are analyzed. Based on its strategically important location, the North Caucasus is an arena of confrontation between extremist groups and a zone of terrorist threats. A special role in the development of the geostrategic development of the North Caucasus is assigned to local elites and religious figures, who form an agenda aimed at reducing extremist and terrorist dependence. The administrative and political elites of the North Caucasus are making great efforts to implement a competent state policy aimed at harmonizing interethnic relations, preserving and developing cultural diversity. Federal, regional and municipal programs are being implemented in the North Caucasus aimed at creating an atmosphere of trust and involvement of local residents in the development of their region.
The Nagorno-Karabakh conflict in the context of the foreign policy of Iran in the Transcaucasus at the end of XX the beginning of XXI century
Authors:   North-Caucasus Federal University, Tolokneva A. A.
Published: December 2024

Introduction. The events of 2020 in NagornoKarabakh have actualized the problem of conflict resolution in the region. Iran has been one of the actors in the negotiation process between the Armenian and Azerbaijani sides since the early 90s. For reasons of national security, this direction has become the most important in Iran’s foreign policy activities in the Transcaucasus. The article focuses on the position taken by Iran regarding the Nagorno-Karabakh conflict in 1992-2018. Iran believed that it could become an alternative to Western states in the negotiation process. The article examines the most important aspects of Iranian-Armenian and Iranian-Azerbaijani relations during the indicated period. The influence of the interests of Iran in the field of economics, logistics, production of energy resources, and the energy sector on the position of Tehran regarding the conflict has been revealed. The article pays attention to the attitude of Armenia and Azerbaijan to the Iranian nuclear program in the context of interstate relations and regional security. The problem of the Zangezur corridor is considered as one of the most important aspects of the contradictions between Baku and Yerevan and affecting the building of the national security of Iran.
Materials and Methods. The study analyzes official documents, statements and statements by officials of Iran, Armenia and Azerbaijan around the problem of resolving the Nagorno-Karabakh conflict in 1992-2018. To study the problem, comparativehistorical, narrative and problemchronological research methods are used.
Analysis. The article reveals the influence of the Nagorno-Karabakh conflict factor on building Iran’s national security in the region. The policy of Tehran towards Azerbaijan and Armenia is traced in the context of regional security.
Results. The study concluded that national security interests force Iran to act as a mediator in resolving the Nagorno-Karabakh conflict. The official position of Tehran was to prevent the escalation of the conflict and resolve the problem through political negotiations. One of the aspects of the position of Iran was the prevention of direct or indirect interference in the conflict by the United States, NATO, the EU, etc. To this end, Tehran carried out activities to attract regional actors (Turkey, the Russian Federation) for a joint dialogue with the Azerbaijani and Armenian sides. Iran proceeded from the interests of ensuring national security when building a balanced position in relations with Azerbaijan and Armenia.
Georgian Territories in the System of State Administration of the Russian Empire, 1801–1812: the Search for an Optimal Model
Authors:   Institute of History and Archaeology of the Ural Branch of the Russian Academy of Sciences, Urushadze A. T.
Published: December 2024

Introduction. The article is devoted to the analysis of the process of administrative and political integration of Georgian territories into the Russian Empire. The chronological period under consideration (1801-1812) covers the time from the entry into the Russian state of Eastern Georgia (Kartli-Kakheti) to the Kakhetian Uprising of 1812.
Materials and Methods. The article is based on a wide range of published historical sources. Theoretically, the study is based on the analysis of the impact of regional political events and conditions on determining the government course.
Analysis. The article analyzes various administrative models that were used by the Russian government in the process of integrating Georgian lands at this stage. Eastern Georgia became part of the Russian Empire as the Georgian Province. The article shows that the management system of this region can be considered a cooperative management model, which is characterized by the interaction of various political regimes under the general control of the imperial metropolis. West Georgian territories in the early nineteenth century. They were part of Russia with the rights of broad administrative autonomy, which corresponds to an indirect management model. The transition to a model of indirect governance in Eastern Georgia was also discussed when choosing a government course on the southern outskirts of the empire. The Kakheti uprising of 1812 became not only one of the largest crises of the Russian administration, but also an important point in the search for an administrative and political optimum in the region. Subsequent projects for the integration of Georgian territories no longer considered indirect governance as a possible alternative.
Results. The result of the troubles and problems in the organization of governance in the Georgian territories was the formation by the imperial elite of ideas about a single political and legal space as an imperative of state construction. This will become especially noticeable already in the reign of Nicholas I.
Intervenciones para reducción de anemia en menores de cinco años. Sector salud y multisectoriales en Latinoamérica. Revisión Sistemática
Authors: Morón-Arce Adrián Leandro , Palomino-Zevallos Carlos Abel , Peralta-Medina Ariana Nicole , Lama Morales Ricardo Aldo , Vela-Ruiz José M
Published: December 2024

Introducción: La anemia es una enfermedad de prevalencia mundial caracterizada por ineficacia de los eritrocitos para distribuir oxígeno, cuya principal etiología es ferropénica. Existen métodos mundialmente conocidos para combatirla; sin embargo, Latinoamérica dispone de escasa evidencia sobre el impacto de estas en la reducción de prevalencia de anemia. Objetivo: El presente estudio revisó las intervenciones del sector salud y multisectoriales para la reducción de anemia en niños de 6 meses a 5 años en Latinoamérica. Materiales y métodos: Se realizó una revisión exhaustiva de la literatura con las palabras clave: child, anemia, Latin America, prevention and control en las bases de datos de Embase, Pubmed, La Biblioteca Virtual en Salud (BVS) y Google Scholar, los artículos fueron filtrados en 4 etapas (identificación, selección, elegibilidad e inclusión) individualmente por los autores quedando 9 ensayos clínicos aleatorizados elegibles. Resultados: De los ensayos se encontraron intervenciones como micronutrientes en polvo (MNP), suplemento alimenticio Nutrisano, bebida láctea Nutrisano, jarabes, ollas de hierro y galletas fortificadas con plantas. Se halló que los MNP, jarabes y galletas con caupí reducen la anemia significativamente; sin embargo, por factores como adherencia y eficiencia los MNP y las galletas son las más recomendadas. El uso de la bebida láctea Nutrisano + MNP y el uso de ollas de hierro no redujeron la anemia significativamente. Conclusiones: En Latinoamérica se recomiendan los MNP según Neufeld para reducir la anemia, y las galletas fortificadas con caupí según Landim para incrementar la hemoglobina.
Analysis of Rainfall and Temperature Variability on Crop Yield in Lere Local Government Area of Kaduna State, Nigeria
Authors: Udeh Ejeh Lawrence , Abdullahi Tijjani Yahaya , Bulama Lawan
Published: December 2024

Climatic variability is one of the major problems of Nigeria’s agricultural system and production. This paper examines the effects of rainfall and temperature variability on the yield of millet and cowpea in Lere Local Government Area of Kaduna State, Nigeria. Thus, information on yields of millet and cowpea, temperature and rainfall spanning the period of thirty years (1988-2018) were obtained for this study. The yield data for millet and cowpea were obtained from National Agricultural Extension and Research Liaisons Service (NAERLS), Ahmadu Bello University, Zaria, while data for rainfall and temperature were derived from Nigerian Metrological Agency (NiMet) Abuja. Trend analysis of climatic and yield data was carried out using Microsoft Excel Tool (2017). The relationship between rainfall and temperature data, millet and cowpea data were tested using bivariate correlation analysis. The result of the trend analysis showed that rainfall increases from 1988-2018 but yield rate declines. The results of the correlation analysis showed a weak relationship between rainfall data and yield. In view of this, it was recommended that, there is need for the development of a comprehensive agricultural and climate change policy that considers the risks associated with millet and cowpea production among farmers of the study area and Nigeria as a whole.
Firms Going Global, Communication Going Sensitive. Cultural Sensitivity: A Challenge for Global Companies in Saudi Arabia
Authors: Saliba Stephanie , Salem Ghada
Published: December 2024

This research examines the intricacies of cultural sensitivity throughout global advertising efforts, specifically with regard to Saudi Arabia. Employing interpretation as the philosophical framework and a mixed-methods technique, this study investigates the perceptions and attitudes of Saudi residents towards culturally sensitive advertising. The findings indicate a notable inclination among Saudi individuals towards commercials that are in line with their cultural values, emphasizing the significance of language, traditions, and religious observance. Expert interviews highlight the difficulties and advantages linked to worldwide advertising standardization, highlighting the importance of being culturally sensitive. Secondary data analysis confirms the importance of respecting local cultural norms, as evidenced by society responses and manifestations. In addition, the study examines the concept of glocalization in advertising, emphasizing the significance of adapting global marketing strategies to suit specific local contexts. This study offers practical knowledge for global companies seeking to handle cultural sensitivity in the Saudi market. It highlights the significance of aligning advertising strategies with local cultural norms to improve customer engagement and brand perception.
Síndrome de Pitt-Hopkins: Reporte del primer caso en la República Dominicana
Authors: Mercedes Bary Bigay
Published: December 2024

El síndrome de Pitt-Hopkins (PTHS) es un trastorno genético raro que se caracteriza por una variante molecular en el gen TCF4, involucrado en la diferenciación neuronal durante el desarrollo embrionario. Los pacientes con PTHS presentan facies sindrómica, retraso psicomotor y discapacidad intelectual. Además, pueden presentar miopía de inicio temprano, convulsiones, estreñimiento y episodios de hiperventilación y apnea. Algunos casos también cumplen con los criterios para el trastorno del espectro autista. En este artículo, se realiza una revisión de la literatura actual sobre el síndrome de Pitt-Hopkins y se presenta el primer caso diagnosticado molecularmente en la República Dominicana. La paciente en cuestión exhibe las características faciales típicas y un patrón de retraso en el desarrollo consistente con el PTHS. Hasta la fecha, no se ha reportado ningún caso de PTHS confirmado molecularmente en la República Dominicana, lo que hace de este caso un importante aporte al conocimiento científico en el país.
Revelando los secretos moleculares: El papel transformador de los conocimientos genéticos en la medicina moderna
Authors: Mendez-Rios Jorge David
Published: December 2024

En este editorial exploramos el papel fundamental de la genética en la revolución de la medicina moderna. El viaje comienza con la genética como piedra angular de la fisiopatología, donde el cambio de enfoques centrados en los síntomas a una comprensión centrada en la genética guía diagnósticos precisos y terapias específicas. El advenimiento de la medicina de precisión marca una era transformadora, adaptando los tratamientos a los perfiles genéticos individuales. Las metodologías de investigación avanzadas descubren nuevas asociaciones genéticas, ampliando nuestros conocimientos y ofreciendo nuevas vías terapéuticas. El interés por la expresión del ARN enriquece nuestra comprensión de la regulación genética, ya que la transcriptómica descifra el intrincado lenguaje de los genes. Este renacimiento de la genética molecular promete remodelar la asistencia sanitaria, ofreciendo diagnósticos precisos, terapias específicas y mejores resultados para los pacientes. Mientras navegamos por este complejo panorama, el editorial concluye destacando los continuos esfuerzos y la dedicación de la comunidad científica, y expresando su expectación ante futuros descubrimientos que darán forma a los próximos capítulos del progreso médico.
Actuales retos diagnósticos genómicos en los Síndromes Hemofagocíticos en pediatría: reporte de caso
Authors: Sánchez-Vargas Juan Manuel , Moreno Giraldo Lina Johanna
Published: December 2024

Introducción: La linfohistiocitosis hemofagocítica familiar (FHL) es una enfermedad del sistema autoinmune que se presenta con un síndrome inflamatorio excesivo causado por linfocitos T activados e histiocitosis. Cursa con herencia autosómica recesiva ligada al cromosoma X. Aproximadamente el 90% de los niños diagnosticados son menores de 2 años y la incidencia es de aproximadamente 0.12 por 100.000. Se puede dividir en cinco subtipos según la variante genética causante. Las variantes patogénicas más involucradas son en los genes de la perforina 1 (PRF1) y homólogo D de la proteína UNC-13 (UNC13D).
Caso clínico: Se presenta el caso de un preadolescente de 11 años, con antecedente de infecciones recurrentes, quien cursa con síndrome convulsivo asociado a fiebre, peso y talla bajas para la edad, hepatomegalia y discapacidad cognitiva. En el abordaje inicial se descartan enfermedades infecciosas, inmunológicas, hematológicas, metabólicas y oncológicas. El exoma clínico para inmunodeficiencias primarias muestra una variante patogénica p.A91V homocigota en el gen de la PRF1 de herencia autosómica recesiva, resultado relacionado con linfohistiocitosis hemofagocítica familiar tipo 2 (FHL2).
Discusión y conclusión: El cambio conformacional del PRF1 alterado reduce la actividad citotóxica de la proteína y provoca la enfermedad. Los pacientes portadores de defectos en el gen PRF1 son vulnerables a infecciones, enfermedades autoinmunes y tumores malignos. Con un diagnóstico definido y preciso es posible orientar las acciones en salud, pautas de seguimiento, evaluación de riesgo de heredabilidad a través de un caso índice para así encontrar otros posibles portadores, realizar un asesoramiento genético completo, implementar e iniciar tratamientos dirigidos que aminoren la morbilidad y mortalidad asociada a esta patología. Actualmente se cuenta con varios estudios en diferentes fases de investigación sobre moléculas que pueden intervenir en la historia natural de la enfermedad.
Nefropatía membranosa: genética, antígenos y anticuerpos
Authors: Courville Karen , Bustamante Norman
Published: December 2024

La nefropatía membranosa es un trastorno renal caracterizado por el engrosamiento de la membrana basal glomerular, que causa el síndrome nefrótico. Puede deberse a diversas afecciones subyacentes que provocan daños en las unidades de filtración de los riñones, conocidas como nefronas, produciendo proteinuria masiva, hipoalbuminemia, edema e hiperlipidemia. Entre el 30 y el 40% de los casos de síndrome nefrótico en adultos se deben a una nefropatía membranosa. En las últimas décadas se ha avanzado en el descubrimiento de antígenos, anticuerpos y genes implicados en la fisiopatología de la enfermedad y se ha propuesto un nuevo sistema de clasificación. La presencia de complejos antígeno-anticuerpo junto con factores genéticos puede influir en la susceptibilidad a dicha desregulación inmunológica, y establece nueva información en un lo que se conocía entre las etiologías de causas primarias y secundarias.La comprensión de los antígenos implicados en la nefropatía membranosa es un área de investigación activa, y es posible que se identifiquen antígenos adicionales a medida que nuestro conocimiento de la enfermedad siga evolucionando. Este artículo resume algunos conceptos y hallazgos recientes sobre este tema.
Variantes genómicas asociadas a errores congénitos en el metabolismo de los carbohidratos en el suroccidente colombiano
Authors: Viafara Belalcazar Jaime David , Satizabal Soto Jose María , Moreno Giraldo Lina Johanna
Published: December 2024

Introducción: Los Errores Innatos del Metabolismo (EIM) de carbohidratos son el resultado de la interrupción de las vías catabólicas o anabólicas de diferentes carbohidratos, siendo la fructosa, la galactosa y el glucógeno los más comunes y pertenecen a un grupo heterogéneo de trastornos que pueden ser hereditarios o pueden ocurrir como resultado de variantes genéticas espontáneas. En los EIM, están las vías de los carbohidratos alteradas, tanto las vías catabólicas como las anabólicas, incluyendo el metabolismo de la fructosa, galactosa y glucógeno, dando lugar a un grupo heterogéneo de trastornos. Sin embargo, los datos sobre estas patologías en Colombia son escasos. Nuestro estudio tuvo como objetivo identificar variantes genómicas asociadas a EIM por carbohidratos en población del suroccidente colombiano carente de diagnóstico clínico. Resultados: Realizamos un estudio transversal, secuenciando 320 exomas y clasificando las variantes de acuerdo a guías estándar. Identificamos 286 variantes, incluyendo 206 nuevas y 73 variantes benignas o probablemente benignas. En particular, seis variantes en genes como GALT, GAK1, ALDOB, GAA y SLC2A1 tenían un significado incierto, y una variante patogénica en el gen GALT se asoció con la galactosemia clásica. Curiosamente, el 18% eran intrónicas, el 5% con sentido erroneo, el 10% sinónimas y el 67% variantes no notificadas. Conclusiones: Estos hallazgos ponen de relieve la necesidad de programas de diagnóstico precoz para aplicar tratamientos específicos, incluido el manejo transdisciplinar para minimizar la morbilidad y la mortalidad. El consejo genético y la educación sobre el riesgo son cruciales, facilitando enfoques de medicina anticipatoria y preventiva, avanzando así en la medicina de precisión.
Reporte de Caso: Gerodermia Osteodisplástica en Panamá
Authors: Herrera Rodríguez Indira , Yu Pon Anyi , Chávez Peña Teresa , Chung Mirna , Saldaña Oleg
Published: December 2024

RESUMEN: La gerodermia osteodisplástica (GO) es un trastorno genético poco frecuente de carácter autosómico recesivo dentro de los trastornos de cutis laxa, caracterizado por una piel laxa y arrugada, osteoporosis que lleva a fracturas espontáneas, luxación de cadera congénito, laxitud de articulaciones, signos de progeria, retraso del desarrollo y discapacidad intelectual. Esta es una condición causada por mutaciones genéticas en el gen GORAB (1q24.2). Presentamos el caso de una lactante menor de 3 meses de edad, con un fenotipo característico de esta condición, piel laxa y arrugada, especialmente en sus manos y pies, además de una luxación de rodilla. Se le realizó un panel genético para colagenopatías, que identificó una alteración en el gen GORAB confirmando el diagnóstico de Gerodermia osteodisplástica.
Conocimiento de las enfermedades genéticas raras en la práctica clínica diaria
Authors: Méndez-Ríos Jorge D.
Published: December 2024

En este número, nos complace presentar 4 trabajos multidisciplinarios que incluyen disciplinas como la Genética Pediátrica, la Hematología, y Nefrología.  Estos trabajos de gran calidad representan el esfuerzo de meses de los colegas especialistas en el área de la genética clínica multidisciplinaria. Cada contribución representa una herramienta para la educación y la docencia a múltiples niveles del aprendizaje médico.
Variante genética de novo en encefalopatía epiléptica: Importancia del diagnóstico específico
Authors: Morán Fernández Johana Marcela , Moreno Giraldo Lina Johanna
Published: December 2024

Introducción: Las encefalopatías epilépticas infantiles precoces (EIEE) son síndromes poco frecuentes que afectan al desarrollo neurológico. La etiología ha sido incierta durante mucho tiempo, pero los avances en genética han identificado numerosos genes asociados. Las variantes en el gen CYFIP2 se han relacionado con las EIEE. Caso clínico: Niña de 11 años nacida a término sin complicaciones, con microcefalia, sinofosis y cuello corto. Sin antecedentes familiares relevantes. Al mes de vida presentó convulsiones generalizadas y re-traso del neurodesarrollo, que evolucionó a cuadriparesia espástica grave, precisando gastrostomía y tra-queostomía, con descargas paroxísticas en el electroencefalograma. Recibió múltiples medicamentos anticonvulsivantes y terapia cetogénica. Se solicitó secuenciación individual completa del exoma y análisis de deleciones y duplicaciones. El análisis del exoma completo individual + deleciones y duplicaciones (CNV) iden-tificó una variante heterocigota probablemente patogénica en el gen CYFIP2 variante c.259C>T (p.Arg87Cys) tipo missense, proporción alélica (VAF) 0,45. Los resultados de este estudio molecular apoyan el diagnóstico de encefalopatía epiléptica y del desarrollo de novo. Discusión: Los trastornos de encefalopatía epiléptica y del desarrollo (EED) son afecciones graves que comienzan en la infancia, caracterizadas por crisis epilépticas, anomalías en el electroencefalograma y deterioro del neurodesarrollo. Los DEE genéticos se asocian a varian-tes en diversos genes relacionados con funciones celulares y neuronales. El gen CYFIP2, en el cromosoma 5q33.3, codifica la proteína 2 que interactúa con la FMRP (proteína del retraso mental por X frágil), desem-peñando un papel crucial en el desarrollo neurológico. Conclusión: Las variantes de novo, como las mutacio-nes sin sentido y el truncamiento en CYFIP2, se asocian a discapacidad intelectual, convulsiones e hipotonía muscular. Los avances en genómica están mejorando la comprensión de la epilepsia, lo que repercute en el tratamiento específico, el pronóstico y el asesoramiento de los pacientes. La epilepsia infantil tiene una base genética heterogénea, y algunos pacientes sin diagnóstico previo pueden recibirlo ahora, lo que resulta crucial para la implantación de la medicina de precisión.
Experiências internacionais em avaliação e incorporação de medicamentos nos sistemas públicos de saúde
Authors: Perin Fernanda Steiner
Published: December 2024

Analisa o processo de ATS, especificamente para a incorporação de medicamentos, em sistemas de saúde de países selecionados com o propósito de fornecer uma referência para a aperfeiçoamento do processo de incorporação de medicamentos no SUS.
Efeitos da entrada de genéricos no mercado sobre os preços de medicamentos
Authors: Rocha Romero Cavalcanti Barreto da
Published: December 2024

Este capítulo investiga o efeito da entrada no mercado de medicamentos genéricos sobre os preços de alguns mercados de medicamentos. Para isso, são utilizados dois tipos de modelos de diferenças em diferenças com entradas múltiplas: o modelo tradicional de efeitos fixos conhecido como two-way fixed effects (TWFE); e o modelo com a correção de Callaway e Sant’Anna (2021).
Diferenciais de preços em medicamentos : uma comparação do Brasil com países selecionados
Authors: Gomes Victor , Ruiz Ricardo Machado
Published: December 2024

O objetivo deste estudo foi comparar os preços de medicamentos no Brasil com os de países selecionados.
Recomendaciones para el mes de Noviembre
Authors:   Centro Nacional de Investigaciones de Café
Published: December 2024

El mes de octubre estuvo influenciado por fenómenos de menor escala, los cuales cambiaron los patrones normales de precipitación y temperatura en varias regiones cafeteras.
JWST COMPASS: The First Near- to Mid-infrared Transmission Spectrum of the Hot Super-Earth L 168-9 b
Authors: Alam Munazza K. , Gao Peter , Adams Redai Jea , Wallack Nicole L. , Wogan Nicholas F. , Aguichine Artyom , Dattilo Anne , Alderson Lili , Batalha Natasha E. , Batalha Natalie M. , Kirk James , López-Morales Mercedes , Meech Annabella , Moran Sarah E. , Teske Johanna , Wakeford Hannah R. , Wolfgang Angie
Published: December 2024

We present the first broadband near- to mid-infrared (3–12 μm) transmission spectrum of the highly irradiated (T
eq = 981 K) M-dwarf rocky planet L 168-9 b (TOI-134 b) observed with the Near-infrared Spectrograph and Mid-infrared Instrument (MIRI) instruments aboard JWST. We measure the near-infrared transit depths to a combined median precision of 20 ppm across the three visits in 54 spectroscopic channels with uniform widths of 60 pixels (∼0.2 μm wide; R ∼ 100), and the mid-infrared transit depths to 61 ppm median precision in 48 wavelength bins (∼0.15 μm wide; R ∼ 50). We compare the transmission spectrum of L 168-9 b to a grid of 1D thermochemical equilibrium forward models, and rule out atmospheric metallicities of less than 100× solar (mean molecular weights <4 g mol−1) to 3σ confidence assuming high surface pressure (>1 bar), cloudless atmospheres. Based on photoevaporation models for L 168-9 b with initial atmospheric mass fractions ranging from 2% to 100%, we find that this planet could not have retained a primordial H/He atmosphere beyond the first 200 Myr of its lifetime. Follow-up MIRI eclipse observations at 15 μm could make it possible to confidently identify a CO2-dominated atmosphere on this planet if one exists.
Temporal and Spectral Analysis of the Unique and Second-brightest Gamma-Ray Burst GRB 230307A: Insights from GECAM and Fermi/GBM Observations
Authors: Moradi R. , Wang C. W. , Zhang 张 B. 冰 , Wang 王 Y. 瑜 , Xiong 熊 S.-L. 少林 , Yi S.-X. , Tan W.-J. , Karlica M. , Zhang 张 S.-N. 双南
Published: December 2024

In this study, we present the pulse profile of the unique and the second-brightest gamma-ray burst GRB 230307A, and analyze its temporal behavior using a joint GECAM–Fermi Gamma-ray Burst Monitor (GBM) time-resolved spectral analysis. The utilization of GECAM data is advantageous as it successfully captured significant data during the pileup period of the Fermi/GBM. We investigate the evolution of its flux, photon fluence, photon flux, peak energy, and the corresponding hardness–intensity and hardness–flux correlations. The findings within the first 27 s exhibit consistent patterns reported previously, providing valuable insights for comparing observations with predictions from the synchrotron radiation model invoking an expanding shell. Beyond the initial 27 s, we observe a notable transition in the emitted radiation, attributed to high-latitude emission, influenced by the geometric properties of the shells and the relativistic Doppler effects. By modeling the data within the framework of the large-radius internal shock model, we discuss the required parameters as well as the limitations of the model. We conclude that a more complicated synchrotron emission model is needed to fully describe the observational data of GRB 230307A.
Proton Acceleration in Low-β Magnetic Reconnection with Energetic Particle Feedback
Authors: Seo Jeongbhin , Guo Fan , Li Xiaocan , Li Hui
Published: December 2024

Magnetic reconnection regions in space and astrophysics are known as active particle acceleration sites. There is ample evidence showing that energetic particles can take a substantial amount of converted energy during magnetic reconnection. However, there has been a lack of studies understanding the backreaction of energetic particles at magnetohydrodynamical scales in magnetic reconnection. To address this, we have developed a new computational method to explore the feedback by nonthermal energetic particles. This approach considers the backreaction from these energetic particles by incorporating their pressure into magnetohydrodynamics (MHD) equations. The pressure of the energetic particles is evaluated from their distribution evolved through Parker’s transport equation, solved using stochastic differential equations (SDEs), so we coin the name MHD-SDE. Applying this method to low-β magnetic reconnection simulations, we find that reconnection is capable of accelerating a large fraction of energetic particles that contain a substantial amount of energy. When the feedback from these particles is included, their pressure suppresses the compression structures generated by magnetic reconnection, thereby mediating particle energization. Consequently, the feedback from energetic particles results in a steeper power-law energy spectrum. These findings suggest that feedback from nonthermal energetic particles plays a crucial role in magnetic reconnection and particle acceleration.
Formation of Sub-Chandrasekhar-mass Black Holes and Red Stragglers via Hawking Stars in Ultrafaint Dwarf Galaxies
Authors: Santarelli Andrew D. , Caplan Matthew E. , Bellinger Earl P.
Published: December 2024

Primordial black holes (PBHs) in the asteroid mass window from 10−16
M
⊙ to 10−10
M
⊙ are currently a popular dark matter candidate. If they exist, some stars would capture them upon formation, and they would slowly accrete the star over gigayears. Such Hawking stars—stars with a central PBH—provide a novel channel for the formation of both sub-Chandrasekhar-mass black holes and red straggler stars. Here we report on stellar evolution models that extend our previous work to Hawking stars with masses between 0.5 and 1.4 M
⊙. We explore three accretion schemes, and find that a wide range of PBHs in the asteroid mass window can robustly accrete stars as small as 1 M
⊙ within the age of the Universe. This mechanism of producing subsolar-mass black holes is highly dependent on the assumed accretion physics and stellar metallicity. Lower-metallicity stars are generally accreted more rapidly, suggesting that it may be more likely for sub-Chandrasekhar-mass Hawking stars formed in the early Universe, such as those in ultrafaint dwarf (UFD) galaxies, to transmute their star into a sub-Chandrasekhar-mass black hole within a Hubble time. We present a stellar population synthesis of a Draco II–like UFD galaxy containing Hawking stars and show that the number of red stragglers they produce can qualitatively match the observed population for black hole seed masses around 10−11
M
⊙ and under the assumption that they accrete with high radiative efficiency.
Plasma Waves Can Gain Energy from Neutrals in Partially Ionized Plasmas
Authors: Jiang Junnan , Liu Yu , Huang Wenlong , Li Minchi , Jin Rong , Yu Pengcheng , Lei Jiuhou
Published: December 2024

Partially ionized plasmas are widely present in astrophysical and space plasmas, and ion-neutral collisions have an important impact on the plasma dynamics, such as electrostatic wave propagation. In this work, the excitation and propagation characteristics of electrostatic ion cyclotron (EIC) waves were experimentally studied in a partially ionized plasma. The EIC waves were launched via a grid antenna, and two types of EIC waves were observed to be excited and propagated. In partially ionized plasmas with weak ion–neutral collisions, it was found that the EIC wave propagation is dominated by ion motion, resembling the classical EIC wave. However, in plasmas with strong ion–neutral collisions, experiments revealed for the first time that EIC wave propagation can be dominated by neutral motion, which leads to an increase in the collisional EIC wave’s phase velocity. Additionally, the EIC wave dispersion relationships under collisions were determined to reveal the underlying processes responsible for the observations. This work verified that collisional EIC waves can gain energy from neutrals in partially ionized plasmas, which suggests that ion‒neutral collisions in the Earth and planetary ionosphere and solar atmosphere have a more complex impact on plasma wave propagation than previously thought.
Free–Free Gaunt Factors for Atmospheres of Accreting Pulsars Observable with X-Ray Space Missions
Authors: Shirke Parisee S.
Published: December 2024

Free–free Gaunt factors for X-ray absorption by hot plasma in the presence of a strong magnetic field are reported. Modified formulae are used for application to the nonlocal thermodynamic equilibrium conditions found in accreting pulsar atmospheres. Given upcoming global X-ray polarimetric space missions, these can be used for the construction of an absorption matrix in discrete-ordinate polarized radiative transfer.
A Magnetic Pressure Difference Rule on Moving Bipolar Pores
Authors: Mendoza Merlin Malonzo , Lin Chia-Hsien
Published: December 2024

Solar pores are transient dark spots in the continuum images of the Sun. Their dynamics are closely associated with solar magnetic fields and plasma motion. Their motions have been found to be correlated with their magnetic pressure differences. This work is aimed to investigate possible reasons for this correlation. Our examination of 19 pairs of bipolar pores reveals a magnetic pressure difference rule between the pores of a same pair: their signs of the differences between the magnetic pressures at the front and back sides are always opposite, and their directions of the maximum positive difference between the magnetic pressures at the opposite ends are always both pointing toward the left or right and are always slightly toward the higher latitudes. The rule indicates that the properties of the bipolar pores are influenced by the solar global magnetic fields and rotation.
Soft-tissue Phlegmon and secondary endocarditis 10 years after congenital cardiac surgery and AICD-implantation
Authors: Goranovska V. , Velchev V. , Stoyanov N. , Gegouskov V.
Published: December 2024

Background: Infective endocarditis (IE) of Automated Implantable Cardioverter Defibrillator (AICD) is a rare and potentially fatal disease with a significant morbidity and mortality. Case Summary: We report on a case of 23-years-old male patient with device - related endocarditis after multiple implantation of (AICD) associated with ventricular tachyarrhythmias. Due to infective endocarditis we performed surgical extraction of AICD and tricuspid valve replacement (TVR). In age of 4 and 10 years the patient had previous cardiac surgeries for perimembranous ventricular septal defect (VSD) and right-vetricular outflow tract obstruction, respectively. Discussion: Device-related endocarditis is a severe complication after AICD implantation. For diagnosis verification we routinely use the echocardiography and 18F-FDG PET/CT scan as nuclear imaging. Tricuspid valve replacement is always recommended if the native valve is completely destructed.
Professionalism and the Electronic Health Record
Authors: Ho Kimberly , Rahman Ali , Dulas Marissa , Choo Zi-Yi , Lee Wei Wei , Alcocer Alkureishi Lolita
Published: December 2024

Electronic health records (EHRs) have become integral to modern health care, facilitating documentation, billing, and care coordination. However, their increasing use introduces potential challenges to professionalism in the patient-physician relationship. This article explores both the positive and negative impacts of EHRs on professional behaviors, including empathy, communication, and efficiency. We discuss strategies to enhance professionalism in EHR use, with a focus on training and education for medical professionals. We also highlight the importance of patient engagement and shared decision-making in navigating the evolving digital landscape of health care.

[
Pediatr Ann
. 2024;53(12):e458–e464.]
Embracing Professionalism to Cultivate Vaccine Positivity and Reduce Vaccine Hesitancy
Authors: Lin Teresa , Grams Jaimie C. , Cunningham Rachel M. , Sahni Leila C. , Boom Julie A.
Published: December 2024

Fueled by the coronavirus disease 2019 pandemic, vaccine hesitancy has become more pronounced and challenging given the increased distrust of science, pervasiveness of misinformation, and polarization of ideas. As such, pediatric providers are increasingly on the frontline of vaccine conversations with their patients, families, colleagues, and communities. To respond effectively to vaccine hesitancy, providers should employ professionalism in all aspects of their practice, including commitment to learning and growth, cultural awareness and humility, ethical responsibility to self and others, oral communication, reliability and dependability, teamwork, critical thinking and quantitative reasoning, and the engagement in public discourse around vaccines. By ensuring excellence in each professionalism domain, pediatric providers will have the best chance of enhancing vaccine positivity and minimizing vaccine hesitancy.

[
Pediatr Ann
. 2024;53(12):e465–e472.]
School-Based Health Care: An Overview
Authors: Harries Michael
Published: December 2024

The school building provides a unique opportunity to prevent, identify, and treat illness in children. School staff must be prepared to care for children with acute and chronic health care needs and pediatricians should be aware of the health resources available in local schools for their patients. This article provides an overview of multiple school-based health topics including the roles of various school health professionals, medication administration in the school setting, the legal protections around health information, school-based health centers, and the rise of telehealth. Most importantly, this article reminds providers that school-based health resources are all unique to each school and school district; all parents of children with health needs should meet with their school's administration to understand what resources are available.

[
Pediatr Ann
. 2024;53(12):e435–e437.]
Composite trapezoidal quadrature for computing hypersingular integrals on interval
Authors: Zhang Xiaoping , Li Jin
Published: December 2024

In this paper, composite trapezoidal quadrature for numerical evaluation of hypersingular integrals was first introduced. By Taylor expansion at the singular point $ y $, error functional was obtained. We know that the divergence rate of $ O(h^{-p}), p = 1, 2 $, and there were no roots of the special function for the first part in the error functional. Meanwhile, for the second part of the error functional, the divergence rate was $ O(h^{-p+1}), p = 1, 2 $, but there were roots of the special function. We proved that the convergence rate could reach $ O(h^{2}) $ at superconvergence points far from the end of the interval. Two modified trapezoidal quadratures are presented and their convergence rate can reach $ O(h^{2}) $ at certain superconvergence points or any local coordinate point. At last, several examples were presented to test our theorem.
An Inductive Reasoning Strategy with Cloud-Based Symbolic Mathematics Software to Improve Undergraduates’ Mathematical Knowledge
Authors: Chimmalee Benjamas , Anupan Anuchit
Published: December 2024

Mathematics involves thinking and reasoning, both of which should be emphasized to improve students’ knowledge and abilities. The main aim of this study was to examine undergraduate students’ conceptual and procedural mathematical knowledge after exposure to software-embedded inductive reasoning strategy in cloud-based environments. Purposive sampling techniques were used to select participants—60 undergraduate students enrolled in the Ordinary Differential Equations (ODEs) course. A quasi-experimental approach using a post-test control group was adopted for the study. Research instruments included a test of mathematical knowledge and an inductive reasoning strategy with cloud-based symbolic mathematics software. The data were analyzed using a quantitative approach involving mean, standard deviation, and a t-test. The results revealed that the mathematical knowledge of the experimental group statistically exceeded the 60% criteria at the 0.05 significance level. The mathematical knowledge of students in the experimental group was significantly better than that of the control group at a statistically significant level of 0.05. The results of this study imply that incorporating cloud tools as part of the inductive reasoning strategy had a positive impact on students’ mathematical knowledge.
Advancing the Understanding of Accountability Processes in Collaborative Governance: Lessons from Research on ‘Agencification’
Authors: Papadopoulos Yannis
Published: December 2024

Collaborative governance and the delegation of tasks to independent agencies are among the most important governance trends in recent years. However, these trends have given rise to separate literatures that do not engage with each other. Research on collaborative governance shows the complexity of accountability relations and uncovers the factors that undermine accountability. However, it fails to consider some relevant findings from research on ‘agencification’ that should be incorporated into its research agenda. Governance scholars should consider more thoughtfully that, for a variety of reasons, accountability holders may be less watchful than expected, but also that accountable behavior can be more attractive than expected, again for diverse reasons. Policy-makers’ strategies for avoiding accountability have been emphasized, but to advance the understanding of real-world accountability processes, we must consider that control deficits can be caused by the passivity of accountability ‘forums’, while policy-makers may find their accountability valuable.