Emilio Zola y la influencia de la Medicina en su obra La Fortuna de los Rougon-Macquart / The influence of medicine in Emile Zola's "Fortune of the Rougon-Macquart"

Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.

On the centenary of the birth of Francis H. C. Crick – from physics to genetics and neuroscience / O centenário de nascimento de Francis H.C. Crick – da física para a genética e a neurociência

ABSTRACT The year 2016 marks the centenary of the birth of Francis Crick (1916–2004), who made outstanding contributions to genetics and neuroscience. In 1953, in a collaborative study, Francis Crick and James Watson discovered the DNA double helix, and in 1962 they and Maurice Wilkins were awarded the Noble Prize in Physiology or Medicine. Crick subsequently became very interested in neuroscience, particularly consciousness and its relationship to the claustrum, a small gray matter structure between the insula and putamen.

RESUMO O ano de 2016 é o centenário de nascimento de Francis Crick (1916–2004), físico, biólogo e neurocientista, cujas contribuições para a genética e a neurociência foram magníficas. Crick, em um estudo colaborativo com Watson, descobriu a estrutura molecular do DNA (dupla hélice) em 1953, e em 1962 ambos receberam o prêmio Nobel de Fisiologia ou Medicina, junto com Wilkins. Após Crick tornou-se muito interessado na área de neurociência, particularmente no estudo da consciência, e a sua relação com o claustrum, uma pequena estrutura de substância cinzenta localizada entre a ínsula e o putame.

Clinical, endoscopic and manometric features of the primary motor disorders of the esophagus / Aspectos clínicos, manométricos e endoscópicos dos distúrbios motores primários do esôfago

BACKGROUND: Significant incidence, diagnostic difficulties, clinical relevance and therapeutic efficacy associated with the small number of publications on the primary esophageal motor disorders, motivated the present study. AIM: To determine the manometric prevalence of these disorders and correlate them to the endoscopic and clinical findings. METHODS: A retrospective study of 2614 patients, being 1529 (58.49%) women and 1085 (41.51%) men. From 299 manometric examinations diagnosed with primary esophageal motor disorder, were sought-clinical data (heartburn, regurgitation, dysphagia, odynophagia, non-cardiac chest pain, pharyngeal globe and extra-esophageal symptoms) and/or endoscopic (hiatal hernia, erosive esophagitis, food waste) that motivated the performance of manometry. RESULTS: Were found 49 cases of achalasia, 73 diffuse spasm, 89 nutcracker esophagus, 82 ineffective esophageal motility, and six lower esophageal sphincter hypertension. In relation to the correlations, it was observed that in 119 patients clinical conditions were associated with dysphagia, found in achalasia more than in other conditions; in relationship between endoscopic findings and clinical conditions there was no statistical significance between data. CONCLUSION: The clinical and endoscopic findings have little value in the characterization of the primary motor disorders of the esophagus, showing even more the need for manometry, particularly in the preoperative period of gastroesophageal reflux disease. .

RACIONAL: A incidência significante, a dificuldade diagnóstica, a relevância clínica e a eficácia terapêutica associada ao pequeno número de publicações sobre os distúrbios motores primários do esôfago, motivou a realização do presente estudo. OBJETIVO: Verificar a prevalência desses distúrbios em manometrias e relacioná-las aos achados endoscópicos e clínicos. MÉTODOS: Estudo retrospectivo de 2614 pacientes sendo 1529 (58,49%) do gênero feminino e 1085 (41,51%) do masculino. A partir de 299 exames manométricos com diagnóstico de distúrbio motor esofagiano primário, procuraram-se os dados clínicos (pirose, regurgitação, disfagia, odinofagia, dor torácica não cardíaca, globo faríngeo e sintomas extra-esofageanos) e/ou endoscópicos (hérnia de hiato, esofagite erosiva, resíduos alimentares) que motivaram a realização da manometria. RESULTADOS: Foram encontrados 49 casos de acalásia, 73 de espasmo difuso, 89 de esôfago em quebra-nozes, 82 de motilidade esofagiana ineficaz, e seis de esfíncter esofagiano inferior hipertensivo. Em relação às correlações, observou-se em 119 pacientes analisados que, na clínica associada às afecções, a disfagia foi mais encontrada na acalásia do que nas outras afecções; na relação entre os achados endoscópicos e as afecções não houve relevância estatística entre os dados. CONCLUSÃO: Os achados clínicos e endoscópicos têm pequeno valor na caracterização das doenças motoras primárias do esôfago, evidenciando ainda mais a necessidade da manometria, particularmente no pré-operatório da doença do refluxo gastroesofágico. .

História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul / History of genetics in Brazil: a view from the Museu da Genética at the Universidade Federal do Rio Grande do Sul

Aborda o contexto de criação do Museu da Genética, em 2011 no Departamento de Genética na Universidade Federal do Rio Grande do Sul, em Porto Alegre, e apresenta sua estrutura e conteúdo. Argumenta-se que os materiais disponibilizados no Museu da Genética constituem uma rica fonte para pesquisas sobre a história da genética no Brasil (e da genética de populações humanas em particular) a partir da segunda metade do século XX, tema ainda pouco investigado, apesar da proeminência dessa área do conhecimento no Brasil.

This work addresses the context of the creation, as well as the structure and contents, of the Museum of Genetics (Museu da Genética), created in 2011 and located in the Department of Genetics of the Federal University of Rio Grande do Sul (Universidade Federal do Rio Grande do Sul), in Porto Alegre, Brazil. The materials available at the Museum of Genetics are a rich resource for research on the history of genetics in Brazil (and especially the genetics of human populations) beginning with the second half of the twentieth century. Despite the prominence of the field of genetics in Brazil, little research has been done on this topic.

Recollections of J.B.S. Haldane, with special reference to Human Genetics in India.

This paper is a brief account of the scientific work of J.B.S. Haldane (1892–1964), with special reference to early research in Human Genetics. Brief descriptions of Haldane's background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.

De Gregor Mendel y la docencia sin licencia / Gregor Mendel: teaching without licence

Gregor Mendel, padre de la genética, fracasó en su intento por obtener la licenciatura que lo acreditara como profesor, pero su fracaso fue el origen de su posterior triunfo histórico. La fidelidad de Mendel hacia la defensa del preformismo fue la base de los experimentos en Pisum sativum. Su historia demuestra que la licencia no necesariamente certifica al verdadero maestro y que el buen maestro no requiere de licencia...

Gregor Mendel, father of Genetics, failed in his attempt to obtain an accredited degree as a teacher, but his failure was the origin of a subsequent historical triumph. Mendel’s faithfulness toward the defense of preformationism was the basis of the experiments in Pisum sativum. His history shows that the license does not necessarily certify the true master, and that the good teacher does not require licensing...

Clima, cerebro y degeneración en Cabanis / Climate, brain and degeneration in Cabanis

Son analizados los argumentos defendidos por Cabanis en el Rapports du physique et du moral de l'homme, tomando como punto de partida las Memorias Octava y Novena. Estas Memorias, dedicadas a analizar las influencias del régimen y del clima, permiten leer de otro modo los argumentos utilizados por Cabanis para explicar la relación entre las características físicas y los hábitos morales de individuos y razas. Son analizadas las deudas con la historia natural, particularmente con la teoría de la degeneración de Buffon; con la tradición médica hipocrática, fundamentalmente con la teoría de los humores, y con los estudios de anatomía y patología cerebral. Finalmente, examinamos el papel que la medicina y la higiene, pensadas como ciencias humanas y morales, poseen en los proyetos de la regeneración de la especie humana.

Comparative Research into the Process of Forming the Theory of Constitution in Ancient Western Medicine and that of Four Trigrams Constitution in Korean Medicine and Contents of Two Theories of Constitution / 의사학

After conducting comparative research into the process of forming the Theory of Constitution in Ancient Western Medicine and that of Four Trigrams Constitution(Sasang Constitution) in Korean Medicine and contents of two Theories of Constitution in terms of medical history, both theories were found to be formed by an interaction between philosophy and medicine, followed by a combination of the two, on a philosophical basis. The Theory of Constitution in Ancient Western Medicine began with the Theory of Four Elements presented by Empedocles, followed by the Theory of Four Humors presented by Hippocrates and the Theory of Four Temperaments by Galenos, forming and developing the Theory of Constitution. After the Middle Ages, there was no significant advance in the Theory of Constitution by modern times ; however, it developed into the theory of constitution type of Kretschmer and others after the 19th century and into the scientific theory of constitution based on genetics presented by Garrod and others early in the 20th century. The Theory of Four Trigrams Constitution began with the Theory of Constitution in Huangdi Neijing, followed by developments and influences of existing medicine called beginning, restoration, and revival periods and DongeuisoosebowonSaSangChoBonGwon based on the original philosophy of Four Trigrams presented by Lee Je-ma, which is found in GyeokChiGo, DongMuYuGo and so on, ultimately forming and developing into the Theory of Four Trigrams Constitution in Dongeuisoosebowon. Recently, a lot of research is being conducted into making it objective in order to achieve reproducibility in diagnosis and so forth of Four Trigrams Constitution.

Genética de la preeclampsia / Genetics of preclampsia

La preeclampsia es un trastorno hipertensivo específico del embarazo y es una de las principales causas de morbilidad y mortalidad materna y neonatal en todo el mundo, afectando 5 a 7% de todos los embarazos. En Colombia es la primera causa de morbilidad y mortalidad materna, siendo un problema de salud pública. Muchas investigaciones coinciden en que su origen se relaciona con la interacción entre factores genéticos y ambientales. Múltiples estudios han explorado factores genéticos tratando de identificar regiones cromosómicas y genes candidatos cuyas variantes se relacionen con una mayor susceptibilidad a la enfermedad. La presente revisión ofrece una visión general de los factores genéticos asociados a la preeclampsia.

Preeclampsia is a hypertensive disorder that occurs only during pregnancy and is one of the main causes of maternal and neonatal morbidity and mortality, affecting 5-7% of pregnancies. In Colombia it is the primary cause of maternal morbidity and mortality, and an important public health issue. Many investigations agree that its origin is related to the interaction of genetic and environmental factors. Numerous studies have explored genetic factors in attempt to identify chromosomal regions and candidate genes, variants of which are related with increased susceptibility to the disease. This review offers a general vision of the genetic factors associated with preeclampsia.