Hasil untuk "History (General)"

W. Schaffer

Margot Comel, Mouna Barat-Houari, Fanny Alkar et al.

<b>Background and Clinical Significance:</b> Familial short stature is a common reason for referral in clinical genetics. While often attributed to a single genetic cause, genetic heterogeneity can complicate diagnosis and management. This report describes a family in which three distinct pathogenic variants in <i>SHOX</i>, <i>PDE4D</i> and <i>ACAN</i> caused overlapping phenotypes of familial short stature. <b>Case Presentation:</b> Clinical, radiological and molecular data were collected retrospectively at the Reference Centre for Constitutional Bone Diseases at Montpellier University Hospital. Targeted gene panels, whole genome sequencing and Sanger sequencing were employed to identify pathogenic variants. Variant interpretation followed the guidelines of the American College of Medical Genetics. A pathogenic <i>SHOX</i> variant (c.452G>A; p.Ser151Asn) was identified in the proband and her mother, which is consistent with dyschondrosteosis. A de novo <i>PDE4D</i> variant (c.671C>T; p.Thr224Ile) was identified in a cousin presenting with syndromic acrodysostosis. An <i>ACAN</i> splice variant (c.6833-1G>A) was detected in several family members and is associated with short stature and skeletal anomalies. An individual carrying both the <i>SHOX</i> and <i>ACAN</i> variants exhibited a more severe phenotype, suggesting an additive effect. <b>Conclusions:</b> This case study highlights the importance of systematic molecular investigations in families with overlapping yet heterogeneous phenotypes. Comprehensive genetic familial analysis enables personalized care and accurate genetic counselling, particularly when multiple diagnoses coexist. A family history should not preclude molecular testing, since similar phenotypes can result from different genetic causes.

Rafał Stobiecki

Tomás Cornejo

Este artículo ofrece una reflexión metodológica sobre el uso de la fotografía en la construcción del conocimiento histórico. Subraya la necesidad de realizar una crítica documental rigurosa para evaluar el potencial heurístico de la fotografía, al igual que con otros tipos de fuentes o vestigios en el trabajo historiográfico. A partir de un retrato fotográfico conservado en un archivo chileno, el análisis profundiza en tres dimensiones esenciales —las prácticas sociales, los espacios discursivos y los archivos— que deben considerarse para integrar eficazmente este tipo de documento en la investigación histórica.

J. March, Johan P. Olson

K. Mueser, P. Yarnold, D. Levinson et al.

Anping Shu, Jiapin Zhu, Baoshan Cui et al.

By offering natural protection along offshore wetlands, mangroves play a crucial role in providing great ecological and economic benefits to local communities. However, mangroves are currently facing an increasing threat of decline worldwide due to widespread human activities and climate change. Recently, eco-friendly wooden fences have been deployed along eroded coasts for mangrove restoration projects, and these fences have the capability to attenuate incoming waves and strengthen sediment deposition in new habitats for mangrove colonization and persistence. However, the design and performance of the fences used can differ substantially among different projects; therefore, it is necessary to study the major factors affecting the wave dissipation performance of these fences and find out a more effective structural design. Thus, we focus on two distinct types of fences with and without porous infill to study the function of infill porosity and frame density, and physical experiments of waves transmission through the fences were carried out in a wave flume, in which nine wooden fences with varied infill porosities (0.60–0.90) and frame densities (0.40 and 0.70) were predetermined to measure the wave transmission, reflection, and wave dissipation. In total, 180 experimental runs were conducted under 18 wave conditions with different wave steepness. The results showed that the fence with a lower infill porosity appears to increase wave transmission coefficient that comes at a cost of a higher reflection coefficient and less wave-energy dissipation inside the fence, and the fence with the highest porosity infills (90%) is nearly equivalent to the fence without any infills but a dense frame in terms of wave damping performance. Moreover, the wave transmission through both fences with and without infill can be remarkably affected by incoming wave steepness. The outcome of the research is not only indicating the importance of the appropriate infill porosity in attenuating incoming waves but also guiding the design of mangrove restoration project in offshore wetlands.

Francisco Rodolfo González Galeotti

Entre 1829 y 1840 tuvo lugar el primer exilio centroamericano en la república mexicana, como resultado directo del fin de la Primera Guerra Federal Centroamericana (1826-1829). Este trabajo presenta una panorámica de esa experiencia al profundizar la geografía de sus vínculos políticos en México, sus actividades económicas, vicisitudes e inserción institucional en México. El evento destacó por su precoz temporalidad en la historia latinoamericana y el gran número de exiliados, algo no superado hasta el siglo xx. Se incluye un anexo de todos los exiliados registrados en México entre 1829 y 1840

E. S. Astakhova

The category of space, originally related to the field of scientific knowledge of philosophy, became the subject of linguistic research in the XX century after the structurallinguistic turn and the Sepir-Whorf hypothesis, which allowed expanding the possibilities of philological analysis of literary texts. Space is closely related to the understanding of time, so it is still difficult to interpret these categories without appealing to another one. There are many approaches to the definition of « space»: through chronotope, locativity, and text-forming categories; researchers understand space as a «specific system of signs», a «modeling language», and spatial metaphors. Therefore, the relevance of the work is seen in the deepening of research affecting the art space.The article pays special attention to the typology of space in works of art. The novelty of the work is expressed in an attempt to identify and describe the linguistic features of the space of the otherworld, which was actively addressed by writers and playwrights of the Silver Age of Russian literature. This is explained by the fact that the subjective (that is, the space created by the author) has its own structure, independence, it is developed by the individual consciousness, which, in turn, is a historical consciousness with a space-time concept of an era, culture. The core of the work of the writers of the beginning of the XX century was not real life, but subjective visions and experiences, behind which the symbolists wanted to recognize the reflections of invisible fire, the radiance of mysterious worlds, meanings that could not be translated into the language of logic. Real space ceases to be real, it is a model, an imitation, a representation of the existing world in an abstract sense.The otherworld, which in dictionaries is understood as a space opposed to the real, as the space of a literary text has different characteristics: it does not necessarily belong to the locus of the fantastic or «unreal», its main feature is to enter into an antithesis with the space in which the hero is initially located, to be different from the «real» space by a set of not only external features, but also the state of the characters moving into it.The paper presents and describes the main linguistic units with which the space of the otherworld is verbalized in literary texts of the beginning of the XX century.

D. Eckberg, P. Sleight

Martín L. E. Wasserman

A lo largo del último tercio del siglo XVIII el crecimiento económico y la incertidumbre se conjugaban en Buenos Aires, cuya interacción comercial continuaba apoyándose en distintas prácticas de endeudamiento, tal como sucedía desde la emergencia de la ciudad. Para afrontar los riesgos inherentes a la interacción crediticia, los actores podían depositar su crédito en tomadores confiables, cuya correspondencia se presumía asegurada por la proximidad relacional entre las partes. Pero el caso de Buenos Aires también ha dado cuenta de la existencia de transacciones que no se circunscribían a acreedores y deudores pertenecientes a un mismo círculo de sociabilidad: el crédito podía depositarse, asimismo, en un mediador cuya fiabilidad atenuase el riesgo de la distancia relacional entre acreedor y deudor. Y esa mediación habría de apoyarse, por lo tanto, en la capacidad del intermediario para gestionar eficientemente la información crediticia sobre el deudor y, con ello, los riesgos de la operación. El presente artículo tiene por objetivo indagar el rol que los escribanos porteños tuvieron como intermediarios financieros en el mercado de créditos durante el último tercio del siglo XVIII. Se realiza un análisis estadístico sobre los abecedarios de cada protocolo notarial y se evalúa la importancia de la información en su desempeño.

A. D. Bogomazov, I. G. Khmelevskaya, T. A. Emelyanova et al.

The aim of the study was to find a connection between various pathological conditions observed in pregnant women with the development of intrauterine pneumonia (IUP) in their newborn children, in this research, another poor of interest was study the clinical course of this pathology in children with different premorbid backgrounds. The study was conducted on the basis of the Regional budgetary health institution «Kursk regional children's hospital No. 2» of the health Committee of the Kursk region. The materials of the study were extracts of newborns from the maternity hospital, medical records of the inpatient neonatal Department (medical documentation form No. 003/y) and personal data of mothers. Statistical processing was carried out with the help of the company's package StatSoft Statistica 8.0 for Windows. Our study showed that the burdened history of mothers plays a significant role in the development of intrauterine pneumonia and was observed in 85.0% of these women. It was found that the presence of IgG in mothers to various infectious agents leads to a significant increase in the incidence of IUP in newborns (p &lt; 0.05). The features of the clinical picture of pneumonia in fullterm newborns were revealed. Revealed the frequent combination of IUP with perinatal hypoxic-ischemic lesion of the Central nervous system. It is established that the clinic is manifested mainly by respiratory disorders and to a lesser extent intoxication syndrome. The diagnostic significance of determining the level of C-reactive protein was established. High efficiency of cephalosporin antibiotics against pathogens of this pathology in newborns is proved. The data obtained in the course of the study are applicable in practice to identify the risk group of mothers, children who are prone to the occurrence of intrauterine pneumonia, optimization and alertness in the diagnosis and appointment of timely antibacterial therapy on the basis of empirical data.

S. Sansone, T. Fan, R. Goodacre et al.

Carlos René Rodríguez-Garcés, Geraldo Bladimir Padilla-Fuentes

Introducción: La prevalencia del cáncer es un problema que vas más allá de la preocupación médica, por cuanto involucra aspectos subjetivos y sociales en la vida de quienes lo padecen o están en riesgo. Por esto, es de gran importancia detectarlo tempranamente, especialmente entre mujeres debido a su exposición a los factores de riesgo de cáncer de mama y cérvix. Objetivo: Analizar la abstención femenina en Chile a la Mamografía y Papanicolaou. Materiales y métodos: Se realizó un análisis multivariado de regresión logística binomial, de los datos disponibles en el Módulo de Salud de la Encuesta de Caracterización Socioeconómica Nacional (CASEN) en su edición del año 2015. Resultados: Se expone una generalizada abstención a la acción preventiva entre mujeres, aun cuando la prevalencia de ambos tipos de cáncer es alta. Los motivos personales aparecen como los más comunes para omitir Mamografía y/o Papanicolaou, especialmente la subvaloración de su importancia. Los factores que aumentan la probabilidad de abstención son la baja escolaridad, la ausencia de afiliación médica y la presencia de pareja. Conclusiones: Se plantea la necesidad de aumentar igualmente la cobertura del servicio preventivo, focalizar los recursos hacia la población vulnerable y mejorar las estrategias de incentivo hacia estos exámenes.

Svitlana (Lana) Krys

Editorial.

Gabriel Bednarz

W artykule krótko przedstawiono aksjomaty teorii wielości rzeczywistości Leona Chwistka (TWR), stanowiącej podstawę jego teorii teorii wielości rzeczywistości w sztuce (TWRS). Przedstawiam i oceniam krytycznie błędne przekonania (o TWR i TWRS) znajdujące się w literaturze przedmiotu. Celem mojego artykułu jest oryginalne przedstawienie i dyskusja psychologicznych podstaw teorii sztuki Chwistka. W szczególności są to: (1) dwa znaczenia wyrażenia „dzieło sztuki” wywnioskowane na podstawie dwóch relacji: dzieło – przeżycie entuzjazmu oraz dzieło – przeżycie estetyczne; (2) dwa znaczenia wyrażenia „treść dzieła sztuki”; (3) relacje pomiędzy aksjomatami (przekonaniami) TWR oraz środkami każdego typu sztuki w ramach TWRS.

Rubens Staloch, Isa de Oliveira Rocha

Resenha do livro  “A alegoria da participação: Planos Diretores Participativos pós-Estatuto da Cidade.”

Christina Dokou

Mahmoud Rezaei Dasht Arzhaneh, Mohammad Bijanzadeh

According to intertextuality approach, there is no self-sufficient text; but every text is intertextually related to its previous and following ones. In this study, first, different aspects of text and intertextuality were described, then, the Story of ‘The Jewish King who killed the Christians because of prejudice’ from Masnavi was analyzed from an intertextual perspective. As the proponents of intertextuality believe that there is no original text, the results of this study also showed that this story of Masnavi is a reflection of its earlier stories such as ‘Shaghad and Rostam’ from Shahnameh, ‘Jazymat olabrsh’ from Balami's History, ‘Firouz, the king of Iran and Hytalyan’ from Tabari's History and ‘The owl and the crow’ from Kalileh and Demneh. In all of these five stories, there is enmity between two nations and one of the king's followers asks the king to beat him in front of people. The beat person succeeds to gain the enemy’s trust and finally defeat them hard.