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1.
J Pediatr Gastroenterol Nutr ; 66 Suppl 3: S50-S51, 2018 06.
Article in English | MEDLINE | ID: mdl-29762378

ABSTRACT

It is appropriate that we begin the clinical part of this conference with a discussion of acquired monosaccharide intolerance. This disease is the most severe form of carbohydrate malabsorption and maldigestion that can afflict an infant. The following article describes the pathophysiology of the disease, as well as its treatment, much of which was based on studies done by the Section of Pediatric Gastroenterology and Nutrition at Baylor College of Medicine. Acquired monosaccharide intolerance has almost disappeared from the United States but remains a problem in the developing world where it is included as part of the diagnosis of environmental enteropathy. Present research on this disease seems to sometimes duplicate what is already known.


Subject(s)
Carbohydrate Metabolism, Inborn Errors/history , Intestine, Small/pathology , Malabsorption Syndromes/history , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/therapy , History, 20th Century , Humans , Infant , Malabsorption Syndromes/diagnosis , Malabsorption Syndromes/therapy , Monosaccharides/metabolism , Texas
2.
Hist Cienc Saude Manguinhos ; 26(1): 245-264, 2019.
Article in English | MEDLINE | ID: mdl-30942313

ABSTRACT

This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.


Subject(s)
Genetics, Population/history , Human Genetics/history , Indigenous Peoples/history , Carbohydrate Metabolism, Inborn Errors/history , Child , Cytogenetics/history , Glucosephosphate Dehydrogenase Deficiency/history , History, 20th Century , Humans , Indigenous Peoples/genetics , Karyotyping/history , Lactase/deficiency , Lactase/history , Mexico
3.
J Inherit Metab Dis ; 31(5): 580-98, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18850300

ABSTRACT

Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garrod gave evidence for the dynamic nature of metabolism by showing involvement of normal metabolites in normal pathways made variant by Mendelian inheritance. His concepts and evidence were salient primarily among biochemists, controversial among geneticists because biometricians were dominant over Mendelists, and least salient among physicians who were not attracted to rare hereditary 'traits'. In 2008, at the centennial of Garrod's Croonian Lectures, each charter inborn error of metabolism has acquired its own genomic locus, a cloned gene, a repertoire of annotated phenotype-modifying alleles, a gene product with known structure and function, and altered function in the Mendelian variant.


Subject(s)
Metabolism, Inborn Errors/history , Albinism/history , Alkaptonuria/history , Carbohydrate Metabolism, Inborn Errors/history , Cystinuria/history , History, 20th Century , History, 21st Century , Humans , London , Pentoses/urine
4.
Hist. ciênc. saúde-Manguinhos ; Hist. ciênc. saúde-Manguinhos;26(1): 245-264, Jan.-Mar. 2019.
Article in English | LILACS | ID: biblio-989863

ABSTRACT

Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.


Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.


Subject(s)
Humans , Child , History, 20th Century , Human Genetics/history , Indigenous Peoples/history , Genetics, Population/history , Carbohydrate Metabolism, Inborn Errors/history , Cytogenetics/history , Lactase/deficiency , Lactase/history , Indigenous Peoples/genetics , Glucosephosphate Dehydrogenase Deficiency/history , Karyotyping/history , Mexico
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