Prevalencia de síntomas depresivos en pacientes adultos mayores hospitalizados en el Servicio de Medicina Interna del Hospital Dr. Hernán Henríquez Aravena de Temuco / Prevalence of depressive symptoms in elderly patients admitted to an Internal Medicine Service in Temuco, Chile

INTRODUCCIÓN: La depresión es una patología de alta prevalencia en los adultos mayores, estando asociada a mayor morbimortalidad. Existen escasos estudios sobre prevalencia y caracterización de pacientes geriátricos hospitalizados con síntomas depresivos. MÉTODO: Se entrevistaron pacientes entre enero y marzo de 2020. Criterios de Inclusión: edad > 60 años, admitidos en las últimas 48 horas. CRITERIOS DE EXCLUSIÓN: Pfeiffer ≥ 3, Glasgow < 15, afasia, enfermedad mental, no hispanohablante. RESULTADOS: Se entrevistaron 59 pacientes, 32 mujeres y 27 varones, edad promedio 73,32 (DE 6,63). La prevalencia de test Yesavage-15 positivo fue 32,20% (19), 52,63% (10) en mujeres y 47,37% (9) en hombres. CONCLUSIONES: Los síntomas depresivos en adultos mayores admitidos en un Servicio de Medicina Interna son frecuentes, y no siempre pesquisados durante la hospitalización. La relación significativa entre Yesavage positivo e ideación suicida destaca el rol de los trastornos del ánimo en el suicidio en población geriátrica.

INTRODUCTION: Depression is a highly prevalent pathology in the elderly, associated to higher morbimortality. There are few studies on prevalence and characterization of hospitalized geriatric patients with depressive symptoms. METHOD: Patients were interviewed between january and april 2020. Inclusion criteria: age over 60 years old, admitted in the last 48 hours. EXCLUSION CRITERIA: Pfeiffer ≥ 3, Glasgow < 15, aphasias, mental diseases, no spanish-speaker. RESULTS: 59 patients were interviewed, 32 women and 27 men, mean age of 73,32 (DE 6.63) years old. Positive Yesavage score prevalence was 32,20% (19), 52,63% (10) in women and 47,37% (9) in men. CONCLUSIONS: Depressive symptoms in patients admitted to an Internal Medicine service are frequent, and often undetected during hospitalization.

Caracterización genética de cuatro poblaciones de ovinos criollos de Argentina / Genetic characterization of four populations of Argentinian creole sheep

Los ovinos criollos son los fundadores de la ganadería ovina en la Argentina y han contribuido de manera sostenida al desarrollo económico, social y cultural de algunas regiones del país. A pesar de ello, es un recurso zoogenético escasamente valorizado y por ende poco estudiado. En orden de caracterizar genéticamente a los ovinos criollos argentinos, se tomaron muestras de ADN de cuatro poblaciones representativas localizadas en las provincias de Buenos Aires, Corrientes, Santiago del Estero y Salta. Estas majadas se seleccionaron por ser grupos conservados, que presentan las características fenotípicas de la raza y no registran la introducción de animales de otras razas en el sistema de reproducción. Un total de 30 marcadores microsatélites y la región D-loop del ADN mitocondrial fueron analizados. El análisis de los microsatélites permitió evidenciar una alta diversidad genética intrapoblacional (Ho= 0,676; He= 0,685; PIC= 0,713). Dicha variabilidad es explicada por diferencias entre los patrones moleculares de los individuos estudiados que pueden clasificarse en 3 grupos de poblaciones significativamente diferentes: BA, SA, SE+CO. Dado que dichas poblaciones explican muy poco de la variabilidad total (7,6%), ellas deberían considerarse perteneciente a una misma raza. El análisis del D-loop mitocondrial demostró que los individuos analizados están relacionados con el haplogrupo asiático, el cual está ampliamente distribuido en las razas españolas que son las antecesoras de la raza criolla argentina. Los resultados obtenidos en este trabajo proveerán información para establecer criterios de manejo de este recurso genético de Argentina con el fin de implementar planes de conservación, recuperación y/o mejora de los programas.

Creole sheep are the founders of sheep farming in Argentina and have contributed in a sustained way to the economic, social and cultural development of some regions of this country. However, it is a scarcely valorised and poorly studied genetic resource. In order to genetically characterize the Argentinian Creole sheep, DNA samples were taken from four representative populations located in the provinces of Buenos Aires, Corrientes, Santiago del Estero and Salta. These flocks were selected because they are considered to be conserved groups, they have the phenotypic characteristics of the creole breed and there are no records about the introduction of animals of other breeds into those systems. A total of 30 microsatellites and the D-loop region of mitochondrial DNA were analysed. Microsatellite analysis showed high level of genetic diversity within populations (Ho= 0.676; He= 0.685; PIC= 0.713). This variability is explained by differences between molecular patterns of the studied individuals, which can be classified into three significantly different population groups: BA, SA, SE+CO. Since these populations explain very little of the total variability (7.6%), it can be considered that they belong to a same race. The analysis of the mitochondrial D-loop showed that Argentinian Creole sheep have haplotypes belonging to the Asian haplogroup, which is widely distributed in the Spanish breeds, which are considered to be their ancestors. The results obtained in the present study will provide information to develop management criteria for this genetic resource in Argentina, in order to implement their conservation, recovery and/or to develop breeding programs.

Endocrine integration of fetal ovaries grafted under kidney capsule of unilaterally or bilaterally orchidectomized male hamster / Integración endocrina de ovarios fetales trasplantados bajo la cápsula renal de hámster machos uni o bilateralmente castrados

Mammalian ovary development undergoes important changes during the perinatal period, moment when follicles are assembled and start to develop in a process not well known, involving endocrine and paracrine factors. In order to investigate the effect of two different hormonal environments on the early development of the ovary, we used an autologous transplant model in which Syrian hamster fetal ovaries were grafted under the kidney capsule of males hosts previously unilaterally or bilaterally orchidectomized. After 35 days of graft, ovaries and kidney parenchyme of the host male did not present signs of rejection. Ovaries contained primordial, primary follicles, secondary follicles and few tertiary follicles with morphological features similar to ovaries of control females of 35 days of age. Healthy primary and secondary follicles of experimental groups had frequency distribution and size similar to control ovaries but tertiary follicles were scarce in control as well as in grafts where they were mainly atretic. PCNA, marker of proliferation, was immuno detected in granulosa cells of growing follicles and the marker of apoptosis, Caspase 3 active, was evident mainly in secondary follicles. Immunoreactivity for steroidogenic proteins, StAR, 3-bHSD and aromatase detected in the follicular wall cells and the decreased serum levels of FSH without important changes in testosterone in bilateral orchidectomized males that received ovarian graft, and testosterone decreased without changes in FSH levels in unilateral orchidectomized males (UO) with ovarian graft, all together suggest the effect of steroid hormones produced by the ovary. In conclusion, the experimental model of autologous transplant presents evidence of early ovary development under the kidney capsule and its functional integration to the endocrine axis of the host male.

El desarrollo del ovario en mamíferos sufre importantes cambios durante el periodo perinatal, momento en el cual los folículos se ensamblan y comienzan a desarrollarse en un proceso no muy dilucidado que involucra señales endocrinas y paracrinas. Con el objetivo de investigar el efecto de dos ambientes hormonales sobre el desarrollo temprano del ovario de hamster, usamos un modelo de trasplante autólogo en el que ovarios fetales fueron trasplantados bajo la cápsula renal de machos receptores previamente castrados y hemicastrados. Después de 35 días de trasplante, los ovarios y el parénquima renal de los machos receptores no presentaron señales de rechazo. El ovario presentó folículos primordiales, primarios, secundarios y algunos folículos terciarios con características morfológicas similares a los ovarios de hembras controles de 35 días de edad. Folículos primarios y secundarios sanos de ambos grupos experimentales se encontraron en frecuencia y tamaño similar al de ovarios controles, los folículos terciarios fueron escasos tanto en controles como en ovarios trasplantados, siendo en éstos principalmente atrésicos. PCNA, un marcador de proliferación celular, fue detectado por inmunohistoquímica en células granulosas de folículos en crecimiento, mientras que caspasa 3 activa, un marcador de apoptosis, fue evidente en folículos secundarios. Por otra parte, inmunoreactividad para proteínas esteroidogénicas, StAR, 3-bHSD y aromatasa, fue detectada en la pared folicular. Esta observación, junto a la disminución de niveles séricos de FSH, sin cambios importantes en los niveles de testosterona en machos castrados que recibieron trasplantes ováricos, y la disminución en los niveles de testosterona sin cambios en los niveles de FSH en machos hemicastrados con trasplantes ováricos, sugiere que el ovario no solo produce hormonas esteroidales sino que además éstas modifican los niveles hormonales del macho receptor del trasplante. En conclusión, este modelo de trasplante autólogo agrega información del desarrollo ovárico temprano cuando éste se desarrolla bajo la cápsula renal de machos entregando evidencia de la integración funcional del ovario trasplantado al eje endocrino de los machos receptores.

Efeito de estratégias nutricionais para redução de nutrientes poluidores nos dejetos sobre o desempenho e as características de carcaça de suínos / The effects of nutritional strategies to reduce nutrient pollution in manure on the performance and carcass traits of pigs

Avaliou-se o efeito de estratégias nutricionais sobre o desempenho e as características de carcaça de suínos dos 30 aos 100kg. Foram utilizados 120 suínos, distribuídos em delineamento experimental de blocos ao acaso, com cinco tratamentos e oito repetições de três animais por unidade experimental. Os tratamentos usados foram: dieta-controle = dieta com alta proteína bruta sem aminoácidos industriais; dieta baixa PB= dieta com baixa proteína bruta com aminoácidos industriais; dieta fitase = dieta-controle com suplementação de fitase; dieta orgânica = dieta-controle suplementada com minerais inorgânico-orgânicos; e dieta composta = dieta com baixa proteína bruta suplementada com aminoácidos industriais, fitase e minerais inorgânico-orgânicos. As dietas avaliadas não alteraram o desempenho e as características de carcaça dos suínos em comparação aos animais da dieta-controle. Conclui-se que a redução de proteína bruta, a suplementação com fitase e minerais inorgânico-orgânicos podem ser adotadas por não alterarem significativamente o desempenho nas fases de crescimento e terminação e as características de carcaças.

The objective was to evaluate the effect of different nutritional strategies on performance and carcass traits of pigs from 30 to 100kg. One hundred and twenty pigs were used, distributed in randomized blocks, with five treatments and eight replicates of three animals per experimental unit. Treatments were: control diet = corn-soybean based diet without synthetic amino acids; low crude protein diet = corn-soybean based diet with low protein and synthetic amino acids; phytase diet = control diet supplemented with phytase; organic diet = control diet supplemented with inorganic and organic minerals; and combination diet = diet with low protein supplemented with phytase and inorganic-organic minerals. Means were compared with the control diet by the Dunnett test. The diets evaluated did not alter the performance of pigs when compared to pigs fed the control diet. The reduction of crude protein, supplementation with phytase and inorganic-organic minerals can be adopted without significantly changing performance during the growing-finishing and carcass traits at 100kg.

The fallacy of racial pharmacogenomics

Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and especially the pharmacodynamics of most drugs are still unknown. Moreover, we still do not understand the role that individual genotypes play in modulating the pathogenesis, the clinical course and the susceptibility to drugs of human diseases which, although appearing homogeneous on the surface, may vary from patient to patient. To try to deal with this situation, it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of "race-targeted drugs". Given the present limitations of genomic knowledge and of the tools needed to fully implement it today, some investigators have proposed to use racial criteria as a palliative measure until personalized pharmacogenomics is fully developed. This was the rationale for the FDA approval of BiDil for treatment of heart failure in African Americans. I will evaluate the efficacy and safety of racial pharmacogenomics here and conclude that it fails on both counts. Next I shall review the perspectives and the predicted rate of development of clinical genomic studies. The conclusion is that "next-generation" genomic sequencing is advancing at a tremendous rate and that true personalized pharmacogenomics, based on individual genotyping, should soon become a clinical reality.

Descripción anatómica, histológica y ultraestructural de la branquia e hígado de tilapia (Oreochromis niloticus) / Anatomical, histological and ultraestructural description of the gills and liver of the tilapia (Oreochromis niloticus)

La tilapia (Oreochromis niloticus) es un pez presente en muchos ecosistemas de agua dulce, en diversas regiones de Colombia. Esta especie es una fuente de alimentación de alta demanda de la población en general, por lo cual es de gran interés que su hábitat acuícola esté libre de contaminantes, con el fin que el especimen se desarrolle y crezca normalmente y así pueda ser consumido por el ser humano sin ningún perjuicio. Las branquias y el hígado de peces son considerados como los órganos primarios donde detectar efectos de polución. Este estudio muestra la morfología normal de las branquias e hígado de tilapia, a través de microscopías: de luz, óptica de alta resolución (MOAR), electrónica de transmisión (TEM) y de barrido (MEB); como un estudio básico para futuras investigaciones, en las cuales se puedan comparar tejidos sanos y tejidos expuestos a contaminantes ambientales; por lo cual, este análisis podría ser utilizado como referente para la aplicación como biomarcador histopatológico de estrés ambiental. Para esta investigación se recolectaron especímenes en un afluente del Río Patía (Departamento del Cauca). Sacrificado el animal, se disecó el arco branquial izquierdo y el hígado. Las biopsias se fijaron con las técnicas estándares para microscopías de luz y electrónica. En los cortes obtenidos se observa la organización en forma detallada de los diferentes tejidos que componen a las branquias y al hígado de especímenes sanos.

The tilapia (Oreochromis niloticus) is a fish that can be found in many of the sweet water ecosystems throughout various regions of Colombia. This species is a high demand food source for the population in general and therefore it is important that its aquaculture habitat remains free of contaminating pollutants, in order that the species develop and grow normally for adequate human consumption. The branchia and the liver of fish are considered the primary organs wherein the effects of pollution can be detected. This study shows the normal morphology of the branquia and the liver of the tilapia through light microscopy, high resolution optical microscopy , electronic transmission microscopy, and electronic scanning microscopy, as basic research for future investigation in which healthy tissue and tissue exposed to environmental pollutants can be compared. This analysis is thus used as reference for the application as a histopathological marker of environmental stress. For purposes of this research specimens of a tributary of the Patia river (Departamento de Cauca) were collected. The animal was sacrificed, the left branquial arch and the liver were dissected; the biopsies were set for standard light microscopy as well as electronic microscopy. The organization is shown in detail in the slices obtained in the different tissue which compose the branquia and the liver of healthy specimen.

Depresión en ancianos / Depression in elderly

La depresión en personas mayores de 65 años tiene una alta prevalencia y produce un impacto negativo en la calidad de vida. Dentro de los factores de riesgo se destacan: duelo, trastornos del sueño, discapacidad, episodio depresivo previo, género femenino, demencia y condiciones médicas crónicas. Los ancianos deprimidos muestran menos ánimo triste, más ansiedad y más quejas somáticas que los jóvenes con la misma patología. El pronóstico es en general pobre, pues este trastorno en los ancianos presenta mayor tasa de recaídas y mayor mortalidad general que en las personas de otras edades. La selección del tratamiento farmacológico requiere la individualización del paciente, la consideración de sus condiciones médicas asociadas y una cuidadosa evaluación del perfil de efectos adversos e interacciones medicamentosas. En este artículo se hace una revisión de la literatura, centrada en los aspectos clínicos concernientes a la epidemiología, diagnóstico, pronóstico y tratamiento de este trastorno, apoyada en las bases de datos electrónicas Medline y Lilacs.

Depression in people older than 65 years has a high prevalence and a negative impact on quality of life. Among the risk factors for this are: bereavement, sleep disturbance, disability, prior depressive episode, female gender, dementia and chronic medical conditions. The depressed elderly show less sad mood, more anxiety and somatic complaints that depressed young patients. The prognosis is generally poor, because the disorder in the elderly has increased relapse rate, increased risk of death from suicide and overall mortality compared with people of other ages. Also is frequent comorbidity with other medical illnesses and with other psychiatric disorders, which further dims the prognosis. The selection of drug treatment requires the individualization of patient, beware of their associated medical conditions, possible drug interactions and careful evaluation of the adverse effect profile. This article is a literature review focusing on clinical aspects concerning epidemiology, diagnosis, prognosis and treatment of this disorder, for which an electronic consultation was done in Medline and Lilacs.

DNA tests probe the genomic ancestry of Brazilians

We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European and African roots. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian and African females were unraveled. We next analyzed different types of biparental autosomal polymorphisms. Especially useful was a set of 40 insertion-deletion polymorphisms (indels) that when studied worldwide proved exquisitely sensitive in discriminating between Amerindians, Europeans and Sub-Saharan Africans. When applied to the study of Brazilians these markers confirmed extensive genomic admixture, but also demonstrated a strong imprint of the massive European immigration wave in the 19th and 20th centuries. The high individual ancestral variability observed suggests that each Brazilian has a singular proportion of Amerindian, European and African ancestries in his mosaic genome. In Brazil, one cannot predict the color of persons from their genomic ancestry nor the opposite. Brazilians should be assessed on a personal basis, as 190 million human beings, and not as members of color groups.

Sex-biased gene flow in African Americans but not in American Caucasians

We have previously shown evidence of strong sex-biased genetic blending in the founding and ongoing history of the Brazilian population, with the African and Amerindian contribution being highest from maternal lineages (as measured by mitochondrial DNA) and the European contribution foremost from paternal lineages (estimated from Y-chromosome haplogroups). The same phenomenon has been observed in several other Latin American countries, suggesting that it might constitute a universal characteristic of the Iberian colonization of the Americas. However, it has also recently been detected in the Black population of the United States. We thus wondered if the same could be observed in American Caucasians. To answer that question, we retrieved 1387 hypervariable I Caucasian mitochondrial DNA sequences from the FBI population database and established their haplogroups and continental geographical sources. In sharp contrast with the situation of the Caucasian population of Latin American countries, only 3.1% of the American Caucasian sequences had African and/or Amerindian origin. To explain this discrepancy we propose that the finding of elevated genomic contributions from European males and Amerindian or African females depends not only on the occurrence of directional mating, but also on the [quot ]racial[quot ] categorization of the children born from these relations. In this respect, social practices in Latin America and in the United States diverge considerably; in the former socially significant [quot ]races[quot ] are normally designated according to physical appearance, while in the latter descent appears to be the most important factor.

Analysis of DNA polymerase activity in vitro using non-radioactive primer extension assay in an automated DNA sequencer

Although different DNA polymerases have distinct functions and substrate affinities, their general mechanism of action is similar. Thus, they can all be studied using the same technical principle, the primer extension assay employing radioactive tags. Even though fluorescence has been used routinely for many years for DNA sequencing, it has not been used in the in vitro primer extension assay. The use of fluorescence labels has obvious advantages over radioactivity, including safety, speed and ease of manipulation. In the present study, we demonstrated the potential of non-radioactive in vitro primer extension for DNA polymerase studies. By using an M13 tag in the substrate, we can use the same fluorescent M13 primer to study different substrate sequences. This technique allows quantification of the DNA polymerase activity of the Klenow fragment using different templates and under different conditions with similar sensitivity to the radioactive assay.

Consumo de hojas por herbívoros en manglares del estuario del Río Dagua, Costa Pacífica Colombiana / Leaf consumption by herbivores in mangroves of the Dagua river estuary, Pacific coast of Colombia

Herbivore leaf consumption of various mangrove species in relation to environmental factors and leaf hardness were studied in the Dagua river estuary, Colombia. Leaf consumption and damage were assessed by measuring the percentage of area attacked by herbivores, distinguishing between consumption and damage. The species that suffered the highest consumption, such as Avicennia germinans (Avicenniaceae) and Laguncularia racemosa (Combretaceae), had softer leaves and less herbivore species when compared with Rhizophora spp. (Rhizophoraceae) and Pelliciera rhizophorae (Theaceae). The abundance and diversity of leaf grazing and its variability among mangrove species in the Dagua River estuary, show the importance of the trophic dynamics of live vegetable matter, in spite of their relatively low contribution to removing organic matter.

Se estudió el consumo foliar por herbívoros en hojas de varias especies de mangle con relación a los factores ambientales y la dureza de las hojas en el estuario del río Dagua. La intensidad del consumo o de los daños producidos en las hojas se cuantificó determinando el porcentaje de área foliar afectado por herbívoros separando las distintas señales de consumo o daño de las hojas. Las especies más consumidas, como A germinans y L. racemosa, presentan el menor número de tipos de huellas de daños y menor dureza que las especies menos consumidas como Rhizophora sp. y P. rhizophorae. La abundancia y diversidad de huellas de ataque por herbívoros y su variabilidad a lo largo del estuario del río Dagua, muestra la importancia de los procesos de consumo de tejido vegetal vivo en el bosque de manglar dentro de la red trófica del sistema estuarino.

A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study

We describe a novel polymorphic Alu insertion (DXS225) on the human X chromosome (Xq21.3) embedded into an L1 retrotransposon. The DXS225 polymorphism was genotyped in 684 males from the CEPH Human Genome Diversity Panel. This insertion was found in all regions of the globe, suggesting that it took place before modern humans spread from Africa ca. 100,000 years ago. However, only one Amerindian population (Karitiana) showed this insertion allele, which may have been introduced by European admixture. Thus, it appears likely that the Alu insertion was absent from pre-Columbian America. Analysis of molecular variance worldwide demonstrated that 92.2% of the genetic variance was concentrated within populations. DXS225 is flanked by two microsatellites (DXS8114 and DXS1002), which are 86 kb apart and are in very strong linkage disequilibrium. The combination of a unique event polymorphism on the X chromosome in linkage disequilibrium with two rapidly evolving microsatellites should provide a useful tool for studies of human evolution.

Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with the expression of a thermolabile enzyme with decreased activity that influences the pool of methyl-donor molecules. Several studies have reported an association between C677T polymorphism and susceptibility to colorectal cancer (CRC). Considering that methylation abnormalities appear to be important for the pathogenesis of CRC, we examined the correlation between the genotype of the MTHFR C677T polymorphism, hypermethylation of the promoter region of five relevant genes (DAPK, MGMT, hMLH1, p16(INK4a), and p14(ARF)), and microsatellite instability, in 106 patients with primary CRCs in Brazil. We did not find significant differences in the genotypic frequencies of the MTHFR C677T polymorphism when one or more loci were hypermethylated. However, we did find a significant excess of 677TT individuals among patients with CRC who had microsatellite instability. This strong association was independent of the methylation status of hMLH1 and of the biogeographical genomic ancestry of the patients. Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer.

Determination of ancestral proportions in synthetic bovine breeds using commonly employed microsatellite markers

The International Society of Animal Genetics (ISAG) has chosen nine microsatellites (international marker set) as a standard that should be included in all cattle parentage studies. They are BM1824, BM2113, INRA023, SPS115, TGLA122, TGLA126, TGLA227, ETH10, and ETH225. We decided to ascertain whether this microsatellite set could be used to determine ancestral proportions in individual animals of synthetic breeds produced by crossing zebu and taurine cattle. Since the genotypes of these markers are routinely available, this would constitute a practical and cost-free method to estimate the ancestry of synthetic breed animals. Genotypes of 100 Gir and 100 Holstein animals were examined for this ISAG marker set. As expected, there were very significant allele frequency differences between the two breeds at most loci. We also typed 20 Girolando animals for which there was complete genealogical information. “Structure” software easily distinguished Holstein and Gir animals based on their microsatellite genotypes; it also attributed the genomic proportion of zebu and taurine of each of the 20 Girolando animals. The proportion of Holstein ancestry was then regressed on the genealogical data; there was a highly significant correlation (r = 0.84, P < 0.0001). The nine microsatellites that compose the ISAG international marker set were capable of estimating the ancestral Gir and Holstein genomic proportions in individual Girolando animals within narrow confidence limits. This microsatellite set might also be useful for estimating the proportions of taurine and zebu origins in commercial meat products.

Adrenoleucodistrofia ligada al X en ocho casos colombianos / Adrenoleukodystrophy in eight Colombian cases

Introducción: La adrenoleucodistrofia ligada al X es una enfermedad peroxisomal causada por un defecto en el gen ABCD1, el cual ocasiona acumulación en el suero, la corteza adrenal y la sustancia blanca del sistema nerviosos central, de ácidos grasos saturados de cadena larga. La clínica se caracteriza por deterioro neurológico e insuficiencia adrenal. Objetivo: Presentar los hallazgos clínicos, bioquímicos y radiológicos de ocho pacientes con esta afección. Material y métodos: Entre 25 pacientes atendidos en el Instituto de errores Innatos del Metabolismo entre 200-2004; se identificaron mediante valoración neuropediátrica, resonancia magnética cerebral y estudios bioquímicos de arilsultafatasa y hexosaminidasa, ocho casos de adrenoleucodistrofia ligada al X. En todos los casos se realizó determinación de niveles de ácidos graso de cadena larga mediante cromatografía de gases y en algunos con espectroscopia de masa. Resultados: El rango de edad fue 5-26 años, la clínica heterogéna, incluso con un paciente asintomático. Dos pacientes presentaron disfunción adrenal y uno adrenoleucodistrofia. Conclusiones: Este defecto metabólico es de baja prevalencia, clínica diversa y evolución variable. Los estudios metabólicos facilitan la confirmación de los casos y la identificación de los portadores

Composição química de diferentes fontes de fósforo e deposição de metais pesados em tecidos de suínos / Chemical composition of different phosphorus sources and heavy metal deposition in tissues of swines

Foram utilizados 112 leitões com peso inicial de 28,68kg, distribuídos em blocos ao acaso, em esquema fatorial 8 2 (oito tratamentos x dois sexos), sete repetições e dois animais por baia. As dietas foram formuladas com base no fósforo total, sendo estas à base de milho e de farelo de soja. O fósforo foi suplementado utilizando-se os fosfatos: bicálcico (FBC); monobicálcico (MBC); supertriplo (ST); supersimples (SS); rocha Catalão (ROCHA); mistura de fontes (MIST) e ácido fosfórico (AcF); e dieta-controle, sem o fósforo suplementar (CONT). Avaliou-se previamente a composição química de amostras de fontes de fósforo disponíveis no mercado. Os fosfatos MBC, FBC e AcF apresentaram baixo nível de contaminação por metais pesados. Observou-se variação no teor de metais pesados entre as marcas comerciais de supertriplo. O consumo do fosfato resultou em acúmulo de cobre nos músculos. A dieta-controle provocou acúmulo de chumbo e zinco no fígado, e a mistura de fontes e supertriplo ocasionou acúmulo de cádmio no fígado. A utilização de fontes alternativas de fósforo menos elaboradas influenciou a deposição de minerais no fígado e nos músculos dos suínos.

Optimization of a multiplex minisequencing protocol for population studies and medical genetics

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is simple, non-radioactive and can be easily multiplexed by adding oligonucleotide tails of increasing size to the sequencing oligonucleotide primers. To optimize the minisequencing protocol, we designed a test multiplex system capable of typing simultaneously 12 different human autosomal single nucleotide polymorphisms. We discovered that the quality of minisequencing primers and the careful selection of the tail sequences were especially critical for success. This optimized protocol permits rapid genotyping at low cost and can serve as a blueprint for the creation of multiplex minisequencing systems suitable to virtually any typing application in population studies and medical genetics.

Estudio de fibras colágenas y elásticas del tejido conjuntivo de pacientes con y sin hernia inguinal primaria / Study of collagen and elastic fibers of connective tissue in patients with and without primary inguinal hernia

There are few studies looking for collagen matrix defects in patients with inguinal hernia. Aim: To study the skin connective tissue in patients with and without inguinal hernia. Patients and methods: Skin from the surgical wound was obtained from 23 patients with and 23 patients without inguinal hernia. The samples were processed for conventional light microscopy. Collagen fibers were stained with Van Giesson and elastic fibers with Weigert stain. Results: Patients without hernia had compact collagen tracts homogenously distributed towards the deep dermis. In contrast, patients with hernia had zones in the dermis with thinner and disaggregated collagen tracts. Connective tissue had a lax aspect in these patients. Collagen fiber density was 52% lower in patients with hernia, compared to subjects without hernia. No differences in elastic fiber density or distribution was observed between groups. Conclusions: Patients with inguinal hernia have alterations in skin collagen fiber quality and density (Rev Méd Chile 2003; 131: 1273-79).

Colonización por especies de Candida en orofaringe y tracto gastrointestinal en niños con neutropenia febril / Oropharingeal and gastrointestinal Candida sp. colonization in children with febrile neutropenia

Objetivo: determinar la relación existente entre la colonización por especies de Candida en tracto gastrointestinal y orofaringe y el desarrollo de fungemia en pacientes oncológicos con neutropenia febril (NF). Diseño: estudio descriptivo. Lugar: Centro Hemato-oncológico Infantil U de Antioquia / Hospital Universitario San Vicente de Paúl – Medellín (enero 99-noviembre 2000). Población: niños con cáncer y NF. Mediciones: hisopado orofaríngeo, materia fecal (MF) y orina los días 0, 7, 14, 21 y 28 de hospitalización para recuento de levaduras; hemocultivos día 0, y otros de acuerdo a la clínica. Se utilizó Sabouraud, CHROMagar Candida- R®,BACTEC (PEDS PLUS/ F® y Mycosis IC/F®) y MinitekTM®. Resultados: se estudiaron 60 episodiosde NF en 45 pacientes, entre 2 y 13 años, promedio días neutropenia 6,3; promedio hospitalización 13,6 días. Al ingreso 14/60 estaban colonizados en orofarínge y 28/60 en MF. Predominó C. albicans; C. tropicalis y C. parapsilosis aumentaron posteriormente; se encontró una tendencia al aumento de la colonización, no significativo, con los días de hospitalización. No se presentaron fungemias. Conclusiones: no se pudo relacionar los recuentos con diseminación, posiblemente por NF de corta duración. Las especies diferentes a C. albicans son importantes, se requieren estudios para determinar el origen intra o extrahospitalario y su sensibilidad