scholarly journals HDR syndrome in a Colombian woman with a genital tract malformation: First case report in Latin America

2018 ◽  
Vol 20 (5) ◽  
pp. 637-640
Author(s):  
Michael Vallejo-Urrego ◽  
Alejandra M. Parra-Morales ◽  
Adriana Gonzalez

Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor is believed to be its cause. This is the first time this orphan disease is reported in Latin America, so the publishing of this report is expected to raise awareness on these types of syndrome, that are usually underdiagnosed in our region, which in turn causes an increase in the years lost to disability (YLDs) rates, as well as higher costs to be assumed by public health systems.Methods A 36-year-old Colombian woman diagnosed with parathyroid gland agenesis was referred from the Endocrinology Service to the Outpatient Service. According to her medical record, in the past she had developed hypocalcaemia, left renal agenesis, hypoparathyroidism, bicornate uterus and sensorineural hearing loss. Through a genetic analysis a pathological mutation on the short arm of the GATA 3 gen (c.404dupC, p Ala136 GlyfsTER 167) was confirmed, which led to a HDR syndrome diagnosis.Discussion This case proves that there is a possibility that mutations described in other continents may be developed by individuals from our region. Regardless of ethnicity, Barakat syndrome should be considered as a possible diagnosis in patients presenting the typical triad that has been described for this condition, since there could be underdiagnosis of this disease in Latin-America due to the lack of knowledge on this condition in said region, and that genetic counseling in these patients is of great importance for the implications of the syndrome in future generations.

2021 ◽  
Author(s):  
Rebecca Probert

The Marriage Act 1836 established the foundations of modern marriage law, allowing couples to marry in register offices and non-Anglican places of worship for the first time. Rebecca Probert draws on an exceptionally wide range of primary sources to provide the first detailed examination of marriage legislation, social practice, and their mutual interplay, from 1836 through to the unanticipated demands of the 2020 coronavirus pandemic. She analyses how and why the law has evolved, closely interrogating the parliamentary and societal debates behind legislation. She demonstrates how people have chosen to marry and how those choices have changed, and evaluates how far the law has been help or hindrance in enabling couples to marry in ways that reflect their beliefs, be they religious or secular. In an era of individual choice and multiculturalism, Tying the Knot sign posts possible ways in which future legislators might avoid the pitfalls of the past.


TRANSPORTES ◽  
2020 ◽  
Vol 28 (2) ◽  
Author(s):  
Jorge Barbosa Soares ◽  
Gabriele Tebaldi ◽  
Francisco Thiago Sacramento Aragão ◽  
Kamilla Vasconcelos Savasini ◽  
Elena Romeo ◽  
...  

The International Society for Asphalt Pavements (ISAP) is a volunteer organization of professionals and experts in asphalt engineering whose goal is to share the latest in leading edge asphalt pavement technology worldwide. ISAP’s most important event, its Conference, is held every four years and the 13th ISAP Conference on Asphalt Pavements (ISAP2018) took place in Fortaleza (Brazil) from June 19th to 21st 2018, for the first time in Latin America. There were participants from 25 countries presenting and debating ideas covering a wide range of topics within pavement infrastructure. Such events provide opportunities to share and learn ideas and discuss how to transform the best available knowledge into applications that can enhance people’s lives, respecting the environment with an eye on future generations. ISAP promotes such diverse gatherings and helps building a creative environment to keep turning the wheel of knowledge. [...]


1991 ◽  
Vol 56 (4) ◽  
pp. 659-666 ◽  
Author(s):  
Robert M. Yohe ◽  
Margaret E. Newman ◽  
Joan S. Schneider

Ethnographic accounts of animal pulverization using stone grinding implements have led archaeologists to believe that this same behavior took place in the past. This important subsistence activity can now be confirmed through the immunological analysis of archaeological materials. Small-mammal blood-protein residue has been identified immunologically for the first time on milling equipment from two archaeological sites in southern California. Immunoprotein trace analysis has the potential for a wide range of applications in the study of prehistory.


1977 ◽  
Vol 19 (1) ◽  
pp. 3-34 ◽  
Author(s):  
Yale H. Ferguson

In the past decade or so the international relations of Latin America—for many years the subject of legalistic, institutional, polemical, or purely descriptive analyses—has been investigated on a much more sophisticated basis. Dependencia has emerged as a major organizing concept in much of the literature, and “bureaucratic politics” has provided a focus for some of the work emanating from North American scholars on U.S. Latin American policies. There are a number of other frameworks as well. Welcome as the wealth of new studies is, they nevertheless present us for the first time with a problem of assessing the utility of various theoretical approaches or at least with the challenge of relating them to one another in a meaningful fashion.


Author(s):  
Yana Hrynko

The purpose of the article is to analyze the role and place of “museum of conscience” in modern politics of memory and cultural space. The methodology is based on a comprehensive study of a wide range of museum expositions (interviews, reports, museum projects, reviews of museum collections, etc.) and generalization of the obtained material to identify current trends in the development of "museums of conscience" in the context of memory culture. Scientific novelty. On the example of specific museum research institutions (the Sixth District Museum in Cape Town, the Holocaust Memorial Museum (Washington, USA), the Museum of Military Childhood in Sarajevo, etc.) for the first time in Ukrainian historiography, their contribution to the process of deeper study of crimes of the past and its reflection in modern politics of memory and cultural space is analyzed. Conclusions: Places of conscience are museums, memorials, and other historical places, which aim not only to preserve memory but also to stimulate people’s conscience. While working with a visitor, they prefer forms that contribute to the involvement of a visitor in discussion and dialogue. The museum exhibit serves as a safe place to discuss sharp issues and reconcile conflicting parties in society. The museum collection and the results of its research are distributed in order to stimulate the human conscience. The task of the museums is not only to preserve the memory about the crimes of the past but also to provide an opportunity for a visitor to establish a connection between this past and today’s struggle for human rights.


Author(s):  
José Manuel Cuéllar Moreno

el objetivo es revisar las principales tesis del Conde de Keyserling en las Meditaciones suramericanas (1933) y demostrar su influencia en dos pensadores mexicanos: Samuel Ramos y Emilio Uranga. Tiene la doble originalidad de reivindicar a Keyserling como pieza clave para comprenderel proceso de “germanización” de la filosofía mexicana durante los años veinte y treinta del siglo pasado, y de rastrear por primera vez la influencia de nociones keyserlinguianas como “hombre telúrico”, “mundo abisal” y “gana” en los análisis sobre la finura y la desgana del mexicano.Se concluye que esta influencia no fue accesoria, sino decisiva, y que no se limitó a México. Por décadas, Keyserling alimentó el imaginario de filósofos y novelistas de toda Latinoamérica. El artículo adopta el presupuesto metodológico del historicismo: “una idea no viene a ser sino la forma de reacción de un determinado hombre frente a sus circunstancias”.Palabras clave: Keyserling; Meditaciones suramericanas; Filosofía de lo mexicano; Samuel Ramos; Emilio Uranga.Abstract: The purpose of this article is to review Keyserling’s main philosophical ideas and categories in his South American Meditations (published in German in 1932), and show the major influence they had on Mexican thinkers such as Samuel Ramos and Emilio Uranga. This articlesvindicates the important role of Keyserling in the “Germanization” of Mexican Philosophy in the first half of the past century, and traces for the first time the presence of some Keyserling’s notions(“hombre telúrico”, “mundo abisal”, “gana”) in the characterization of the Mexican as delicate and unwilling. This influence was decisive and spread throughout Latin America. Historicism provides the methodological assumption that an idea (even a philosophical one) is nothing but a way a concrete human being deals with her circumstances.Key words: Keyserling; South American Meditations; Mexican Philosophy; Samuel Ramos; Emilio Uranga.


1994 ◽  
Vol 42 (1) ◽  
pp. 62-78 ◽  
Author(s):  
Huey-Tsyh Chen ◽  
Michelle Rose Marks ◽  
Carl A. Bersani

Further research on the impact of unemployment on workers and their families requires greater refinement and more precise measurement of the concept. While previous studies have indicated the effects of unemployment on a wide range of variables, such as health and well-being, many of these studies suffer from imprecision by conceptualizing unemployment too narrowly and by using too strict a dichotomy between currently employed and currently unemployed workers. This research effort attempts to broaden and refine the concept of unemployment by defining it in terms of two job dimensions: current employment status and previous job loss. Using this conceptualization, the authors find that current unemployment after other job losses may have more devastating effects on well-being than losing one's job for the first time. Similarly, among the currently employed, those who have lost jobs in the past may experience more emotional difficulties than those who have never lost their jobs.


Author(s):  
A. Strojnik ◽  
J.W. Scholl ◽  
V. Bevc

The electron accelerator, as inserted between the electron source (injector) and the imaging column of the HVEM, is usually a strong lens and should be optimized in order to ensure high brightness over a wide range of accelerating voltages and illuminating conditions. This is especially true in the case of the STEM where the brightness directly determines the highest resolution attainable. In the past, the optical behavior of accelerators was usually determined for a particular configuration. During the development of the accelerator for the Arizona 1 MEV STEM, systematic investigation was made of the major optical properties for a variety of electrode configurations, number of stages N, accelerating voltages, 1 and 10 MEV, and a range of injection voltages ϕ0 = 1, 3, 10, 30, 100, 300 kV).


2020 ◽  
Vol 04 (04) ◽  
pp. 369-372
Author(s):  
Paul B. Romesser ◽  
Christopher H. Crane

AbstractEvasion of immune recognition is a hallmark of cancer that facilitates tumorigenesis, maintenance, and progression. Systemic immune activation can incite tumor recognition and stimulate potent antitumor responses. While the concept of antitumor immunity is not new, there is renewed interest in tumor immunology given the clinical success of immune modulators in a wide range of cancer subtypes over the past decade. One particularly interesting, yet exceedingly rare phenomenon, is the abscopal response, characterized by a potent systemic antitumor response following localized tumor irradiation presumably attributed to reactivation of antitumor immunity.


2020 ◽  
Vol 1 (2) ◽  
pp. 157-172
Author(s):  
Thomas Leitch

Building on Tzvetan Todorov's observation that the detective novel ‘contains not one but two stories: the story of the crime and the story of the investigation’, this essay argues that detective novels display a remarkably wide range of attitudes toward the several pasts they represent: the pasts of the crime, the community, the criminal, the detective, and public history. It traces a series of defining shifts in these attitudes through the evolution of five distinct subgenres of detective fiction: exploits of a Great Detective like Sherlock Holmes, Golden Age whodunits that pose as intellectual puzzles to be solved, hardboiled stories that invoke a distant past that the present both breaks with and echoes, police procedurals that unfold in an indefinitely extended present, and historical mysteries that nostalgically fetishize the past. It concludes with a brief consideration of genre readers’ own ambivalent phenomenological investment in the past, present, and future each detective story projects.


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