Caracterización espirométrica de pacientes con fibrosis quística / Spirometric caracterization of cystic fibrosis patients

INTRODUCCIÓN: El pronóstico de los pacientes con fibrosis quística (FQ) ha mejorado en forma notable. La evaluación de la progresión de la enfermedad se basa en la medición del Volumen Espirado al primer segundo (VEF1). OBJETIVOS: 1. Describir volúmenes y flujos espiratorios forzados y comparar su interpretación según diferentes patrones de referencia (Knudson, multiétnicas Global Lung Initiative, Gutiérrez); 2. Comparar evolución de VEF1 según diferentes patrones de referencia; 3. Describir respuesta a broncodilatador. PACIENTES Y MÉTODO: Estudio retrospectivo de fichas clínicas y espirometrías de pacientes con FQ controlados en Hospital Dr. Sótero del Río. Se obtuvo antecedentes demográficos, resultados de prueba de sudor, estudio genético, estudio bacteriológico. Se evaluó respuesta a broncodilatador (salbutamol 400 ugr), considerando significativo un aumento en 12% en el VEF1. El valor de cloro en sudor se obtuvo mediante método de Gibson y Cooke. Se registraron: Capacidad Vital Forzada (CVF), Volumen Espirado al primer segundo (VEF1) y relación VEF1/CVF. Para graficar la progresión del VEF1 en el tiempo y las curvas teóricas de GLI, Knudson y Gutiérrez, se utilizó el software de libre distribución R versión 3.3.1. RESULTADOS: Se incluyeron 14 pacientes, 7 varones, edad entre 6 y 24 años, mediana 15 años, me diana índice de masa corporal (IMC) 18,15 (rango 14,6-23,3), mediana cloro en sudor 76 mEq/l (rango 50,2- 119), 7 pacientes con al menos 1 mutación F508del. Al utilizar fórmulas predictivas multiétnicas y de Gutiérrez, el compromiso de la función pulmonar ocurría con anterioridad en relación al uso de ecuaciones de Knudson. Ninguno de los pacientes presentó respuesta significativa a broncodilatador. CONCLUSIÓN: El grupo de pacientes descritos presenta en su mayoría compromiso funcional respiratorio y no tiene respuesta a broncodilatador. La interpretación del compromiso funcional respiratorio varía según los valores teóricos utilizados.

INTRODUCTION: The prognosis of patients with cystic fibrosis (CF) has remarkably improved. The as sessment of the disease progression is based on the measurement of the FEV1 (Forced Expiratory Volume in one second). OBJECTIVES: 1. To describe forced expiratory flows and volumes and com pare their interpretation according to different reference standards (Knudson, Gutiérrez, and multi ethnic GLI); 2. To describe bronchodilator response. Patients and Method: The medical records and spirometries of all patients with CF controlled at the Dr. Sotero del Rio Hospital were reviewed. Demographic background, sweat test results, genetic study , and bacteriological study were obtained. In addition, Forced Vital Capacity (FVC) was recorded as well as FEV1 and FEV1/FVC ratio. RESULTS: Data from 14 patients, were analyzed, seven males, aged 6-24 years, median 15 years, median BMI 18.15 (range 14.6-23.3), median sweat chloride test 76 mEq/l (range 50,2-119 mEq/l), seven patients with at least one F508del mutation. Using multi-ethnic and Gutierrez predictive formulas, lung function involvement occurred previously in relation to the use of Knudson equations. None of the patients had a significant bronchodilator response. CONCLUSION: The group of patients descri bed mostly presents functional respiratory involvement and had no bronchodilator response. The interpretation of functional respiratory involvement varies according to the theoretical values used.

Síndromes neurocutáneos en la consulta neurológica: serie de casos / Neurocutaneous syndromes in the neurological consultation: case series

Los síndromes neurocutáneos son trastornos genéticos que afectan simultáneamente a la piel, sus anexos y al sistema nervioso. Mediante un esfuerzo colaborativo, se incluyó a pacientes con síndrome neurocutáneo vistos consecutivamente en clínicas tanto del Hospital Escuela como en dos clínicas privadas de Tegucigalpa del 2000 al 2007. Se realizó examen clínico/neurológico/dermatológico, árbol genealógico, exámenes de gabinete y biopsia de lesiones no bien definidas clínicamente o sospechosas de malignidad. Se clasificaron los casos deacuerdo a los criterios de las sociedades internacionales de dermatología. Se identificaron 37 casos, 64% del sexo femenino, 65% menores de 30 años. El síndrome más frecuente en el grupo fue la neurofibromatosis tipo I (44%), la Esclerosis Tuberosa (17%) y el síndrome de Sturge Weber (14%). Las principales consecuencias neurológicas fueron cefalea (22%), epilepsia (22%), déficit motor (13%) y retraso psicomotor (19%). La frecuencia y perfil de los SN encontrados fue similar a lo reportado en la literatura...

Caso clínico-radiológico: quilotorax / Radiological diagnosis of chylothorax

Se presenta el caso clínico de una paciente de 10 años que debutó con derrame pleural masivo con características de quilotórax cuya causa fue secundaria a un linfoma linfoblástico de células T. El quilotórax secundario se trató con manejo conservador consistente en dieta baja en grasas y drenaje pleural en un primer momento y posteriormente -ya teniéndose el diagnóstico establecido- sólo con dieta baja en grasa, presentando una evolución clínica satisfactoria y sin recaídas posteriores. Se discute la etiología del quilotórax, dentro de las cuales se encuentra el linfoma no Hodgkin postulándose como causa la obstrucción del conducto torácico por las masas tumorales. Se revisa el diagnóstico y manejo actual del quilotórax mostrando alguna evidencia del buen resultado del manejo conservador con éxito cercano al 80 por ciento durante las primeras 4 semanas. En los últimos años el uso del análogo de somatostatina, octeotride, con resultados promisorios, está sustentado por series clínicas pequeñas que requieren mayor evaluación antes de una recomendación.

Aplicaciones médicas de los descubrimientos genómicos / Medical applications of genome discovery

The discovery of the complete base sequence of human genome unveils several perspectives to understand human diseases and develop new therapies. Human genome contains approximately 39,000 genes of which 26,000 code specific proteins that have been identified. There are approximately 1,500 diseases with identified molecular disturbances. Genes can modify signs and symptoms of common diseases. Thus, there are no pure monogenic diseases. Chronic diseases of adults are complex and dependent on multiple factors. Several genes that predispose to chronic degenerative diseases have been identified. This is revealing the complex nature and the interaction of these ailments with the environment. The discovery of bacterial and viral genomic sequences will allow the manufacturing of new vaccines and specific molecular antimicrobials. The new pharmacogenomics will devise treatments for each subject according to her specific genomic profile. The new applications of genomic technology is creating new paradigms in biomedical research such as functional genomics, proteonomics, epigenetic regulation. Gene diagnosis and therapy will considerably improve the future of medicine

Historia de la obra científica de Eduardo Cruz-Coke Lassabe / The scientific work of Eduardo Cruz-Coke Lassabe, MD

Background: Eduardo Cruz Coke M.D., (1899-1974) was one of the precursors and pioneers of biomedical research in Chile, as professor of Physiological and Pathological Chemistry at the University of Chile, from 1925 to 1962. He was a disciple of Dr. Juan Noe and studied in Europe with the Nobel Prize winners Otto Warburg, Jean Perrin, Louis de Broglie and Frederic G. Hopkins. In Chile, he founded a scientific academy with disciples that later obtained the National Sciences Award, such as Hector Croxatto, Jorge Mardones, Hermann Niemeyer, Luis Vargas and Jorge Allende. He carried out pioneering research in metabolism, nutrition, endocrinology, oncology and nephrogenic hypertension. He published more than 50 scientific papers in French, English and Spanish. He founded scientific societies, edited journals and created the National Commission of Nuclear Energy. His books were "The ionic acidity in the clinic", "Preventive and directed medicine", "The adrenal cortex". He was Ministry of Health between 1937 and 1938 and passed important socio-medical bills. He obtained the distinguished international awards in Europe, the U.S.A. and Latin America. The Biomedical Sciences Institute of the University of Chile carries his name

La saliva como medio de diagnóstico de VIH

La saliva como medio diagnóstico permite reconocer las concentraciones de una serie de componentes tanto endógenos como exógenos presentes en el organismo. Gracias a los anticuerpos presentes en la saliva se pueden aplicar las nuevas tecnologías biomédicas en el diagnóstico del síndrome de inmunodeficiencia humana causado por el VIH. Este novedoso método posee numerosas ventajas con respecto a las pruebas en sangre. Se plantea información sobre los fluidos bucales, los diversos componentes con posibilidad de diagnóstico presentes en la saliva y se establecen las características de un método diagnóstico (Omni-Sal® ) aplicado a personas que padecen de alguna enfermedad del complejo bucal. Descriptores.

Normas bioéticas de UNESCO para evitar prácticas eugenésicas en investigaciones biomédicas / Bioethical standards of UNESCO to avoid eugenical practices in biomedical research

The author, member of the UNESCO Bioethics Committee, participated in the preparation of the Universal Declaration about Human Genoma and Human Rights, in 1997. The aim of this work is to analyze the initial articles of such Declaration, defining the bioethical principles that defend human dignity, freedom and rights, against the madness of the present biotechnological revolution. The development of genetics for the benefit of mankind will be guaranteed if these principles are honored. Genetic discrimination, reductionism and determinism, are identified by the author as perversions that, if used by biotechnologists, can lead to the rebirth of eugenism and racism, that were condemned by the Code of Nuremberg, in 1947. Investigators must assume their responsibility, respecting the principles of human dignity, the real freedom of research and solidarity among people. This attitude will avoid the use of genetics for purposes other than the welfare of mankind

Historia de la genética latinoamericana en el siglo XX / The history of genetics in Latin American countries during the twentieth century

The aim of this historical review is to evaluate the evolution of genetics in the context of Latin American scientific culture, to value foreign influences and to highlight the discoveries and contributions of Latin American geneticists. During the first third of the twentieth century, local naturalists, botanists and physicians understood the chromosomal theory of heredity and Mendelian theory of evolution and begun research and teaching on these new theories and technologies. During the thirties and forties, North American geneticists visited South America and formed development poles on cytogenetics and population genetics in Brazil and Argentina. During the fifties and sixties, human genetics was formally established in Brazil, Argentina and Chile. Genetics teaching became generalized in universities and national Genetics Societies were formed. In 1969, the Latin American Genetics Society was created, unifying the efforts of zoologists, botanists, physicians and anthropologists in an unique Latin American cultural space, organizing 11 meetings between 1972 and 1994. Latin Americans have made a great contribution in genome discovery of animal, vegetable and human species in their territory. They explored the great genetic diversity of the continent, discovering new genes and diseases. The biomedical area had the greatest development. In 1997, there were 130 medical genetics centers, 120 hospitals specialized in congenital malformations, 56 molecular biology centers and 26 molecular genetics centers. At the end of the twentieth century, human genetics is completely integrated to medical sciences in Latin America

Claudio Costa Casaretto MD: 1914-1999 / Claudio Costa Casaretto MD: 1914-1999

A Chilean physician and a leading medical historian, Dr. Costa-Casaretto was born in Iquique, Chile, in December 25, 1914. He obtained his Doctor of Medicine degree in 1940, and became physician at the University of Chile Clinical Hospital in 1952. He made post graduate studies with Dr. Adalberto Pazzini, Professor of History of Medicine at the University of Rome. Returning to Chile in 1955, he founded with Professor Enrique Laval, a Center for Studies on the History of Medicine and edited the ÒAnales Chilenos de Historia de la MedicinaÓ (1959-1972). In 1968 was apppointed Professor of History of Medicine at the University of Chile, Faculty of Medicine. He wrote near one hundred papers about history dealing with the XIX century Chilean medicine, and a book ÒElectroanestesiaÓ (1959) a biography of Dr. Araya, the Chilean inventor of that technology. He died in Santiago, in April 29, 1999, after cerebrovascular and cardiovascular complications

La filosofía hipocrática / Hyppocratic philosophy

The art of medicine was formed in Greece in close relationship to culture and philosophy. During the Christian era, it was projected through the Corpus Hippocraticus, in several ethical and philosophical documents such as The Oath of Medical Science, Medical Law, Decency, Precepts, Antique Medicine, Airs and Aphorisms, Waters and places. The central idea of Hyppocratic philosophy is the principle of wholeness, summarized by Plato in the sentence ÒThe certain knowledge of nature is solely possible from medicine and only when it is correctly approached as a wholeÓ. Clinical actions, are imbued by Hyppocratic ethics; their aim is the ill that is an anthropos, a human being. The physician must take care of the ill with devotion, selflessness, comprehension and compassion. The oath is the supreme deontological code that summarizes the essential concepts of Hyppocratic philosophy. Recent studies suggest that there is a great distance between the thinking of Hippocrates and present scientific medicine. Hyppocratic philosophy rejects the epistemological principles of modern science. The Hyppocratic logic is probabilistic and temporal and rejects the principles of non-contradiction, of identity and therefore the abstract determinism of contemporary science. The present force of the oath is explained because its ethics and epistemology are matters of medicine that understands the real world of the ill, trying to avoid suffering and injustice. Only Hippocrates can defend each ill as a whole with the wisdom of its philosophy

Acreditación de autonomía de universidades privadas chilenas: 1994-1998 / Autonomy accreditation of private Chilean universities

Background: In 1995, a score to measure the quality of private universities in Chile, using excellency indicators as predictors of autonomy certification, was devised by the author. Aim: To compare this score with autonomy certification results of ensuing years, to assess the usefulness of excellency indicators. Material and methods: During 1995, the records of 21 private universities in Santiago were studied. These universities were qualified using eight indicators of academic excellency. These results were compared with the Superior Education Council qualification results, obtained between 1996 and 1998. Results: The scores obtained by universities ranged from 19 and 137 points. Universities with the better scores obtained autonomy and those with the worst scores were eliminated. There was a good concordance between the score obtained in 1995 and the fate of autonomy certification. Conclusion: The best predictors and indicators of academic excellency to certificate autonomy of private universities were the magnitude of indirect budget contributed by the state, the size of academic list of staff and the percentage of admitted students with scores over 573 in the national academic aptitude tests