RESUMEN
BACKGROUND: Currently, the Guatemalan population comprises genetically isolated groups due to geographic, linguistic and cultural factors. For example, Mayan groups within the Guatemala population have preserved their own language, culture and religion. These practices have limited genetic admixture and have maintained the genetic identity of Mayan populations. AIM: This study is designed to define the genetic structure of the Mayan-Guatemalan groups Kaqchiquel, K'iche', Mam and Q'eqchi' through autosomal short tandem repeat (STR) polymorphisms and to analyse the genetic relationships between them and with other Mayan groups. SUBJECTS AND METHODS: Fifteen STR polymorphisms were analysed in 200 unrelated donors belonging to the Kaqchiquel (n = 50), K'iche' (n = 50), Mam (n = 50) and Q'eqchi' (n = 50) groups living in Guatemala. Genetic distance, non-metric MDS and AMOVA were used to analyse the genetic relationships between population groups. RESULTS: Within the Mayan population, the STRs D18S51 and FGA were the most informative markers and TH01 was the least informative. AMOVA and genetic distance analyses showed that the Guatemalan-Native American populations are highly similar to Mayan populations living in Mexico. CONCLUSIONS: The Mayan populations from Guatemala and other Native American groups display high genetic homogeneity. Genetic relationships between these groups are more affected by cultural and linguistic factors than geographical and local flow. This study represents one of the first steps in understanding Mayan-Guatemalan populations, the associations between their sub-populations and differences in gene diversity with other populations. This article also demonstrates that the Mestizo population shares most of its ancestral genetic components with the Guatemala Mayan populations.
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Genética de Población , Repeticiones de Microsatélite/genética , Femenino , Genética Forense , Frecuencia de los Genes/genética , Sitios Genéticos , Variación Genética , Geografía , Guatemala , Humanos , Indígenas Sudamericanos/genética , MasculinoRESUMEN
Short tandem repeats (STRs) of the combined DNA index system (CODIS) are probably the most employed markers for human identification purposes. STR databases generated to interpret DNA profiles are also helpful for anthropological purposes. In this work, we report admixture, population structure, and genetic relationships of Mexican Mestizos with respect to Latin American and Caribbean populations based on 13 CODIS-STRs. In addition, new STR population data were included from Tijuana, Baja California (Northwest, Mexico), which represents an interesting case of elevated genetic flow as a bordering city with the USA. Inter-population analyses included CODIS-STR data from 11 Mexican Mestizo, 12 Latin American and four Caribbean populations, in addition to European, Amerindian, and African genetic pools as ancestral references. We report allele frequencies and statistical parameters of forensic interest (PD, PE, Het, PIC, typical PI), for 15 STRs in Tijuana, Baja California. This Mexican border city was peculiar by the increase of African ancestry, and by presenting three STRs in Hardy-Weinberg disequilibrium, probably explained by recurrent gene flow. The Amerindian ancestry in Central and Southeast of Mexico was the greatest in Latin America (50.9-68.6%), only comparable with the North of Central America and Ecuador (48.8-56.4%), whereas the European ancestry was prevalent in South America (66.7-75%). The African ancestry in Mexico was the smallest (2.2-6.3%) in Latin America (≥ 2.6%), particularly regarding Brazil (21%), Honduras (62%), and the Caribbean (43.2-65.2%). CODIS-STRs allowed detecting significant population structure in Latin America based on greater presence of European, Amerindian, and African ancestries in Central/South America, Mexican Mestizos, and the Caribbean, respectively.
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Dermatoglifia del ADN , ADN/genética , Bases de Datos de Ácidos Nucleicos , Flujo Génico/genética , Indígenas Norteamericanos/genética , Repeticiones de Microsatélite/genética , Población Negra/genética , Región del Caribe , América Central , Frecuencia de los Genes/genética , Humanos , América Latina , México , América del Sur , Población Blanca/genéticaRESUMEN
The RIFLE and AKIN criteria have definitely help out to draw attention to the relationship between a deterioration of renal function that produces a small increase in serum creatinine and a worse outcome. However, the specific clinical utility of using these criteria remains to be well-defined. It is believed that the main use of these criteria is for the design of epidemiological studies and clinical trials to define inclusion criteria and objectives of an intervention. AKI adopting term, re-summoning former ARF terminology, it is appropriate to describe the clinical condition characterized by damage to kidney, in the same way as the term is used to describe acute lung damage where the lung injury situation still has not increased to a situation of organ failure (dysfunction). The serum and urine biomarkers (creatinine, urea, and diuresis) currently in use are not sensitive or specific for detecting kidney damage, limiting treatment options and potentially compromising the outcome. New biomarkers are being studied in order to diagnose an earlier and more specific AKI, with the potential to change the definition criteria of AKI with different stages, currently based in diuresis and serum creatinine.
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Lesión Renal Aguda/sangre , Lesión Renal Aguda/orina , Lesión Renal Aguda/diagnóstico , Biomarcadores/sangre , Biomarcadores/orina , HumanosRESUMEN
Fifteen STRs are studied to determine the allele frequencies' distribution and to evaluate the homogeneity of Nayarit populations. This study allows the identification of forensic efficiency parameters to be used in forensic genetics and to explore the genetic similarities between Nayarit and the neighboring countries such as Mexico, Brazil, Puerto Rico, Guatemala, Honduras, Bolivia and Costa Rica. The Hardy-Weinberg equilibrium, expected heterozygosity, matching probability, and power of discrimination, were calculated in the Nayarit population. We found that with respect to the studied markers, Nayarit genetic structure is homogeneous. In this study, it is established that Nayarit is genetically similar to the South American Mestizo population. The distribution of a set of these 15 STRs was analyzed with other South American populations as well as in the extensive set of neighboring populations from the literature (USA, Europe and Africa). We found significant differences exist between the isolated populations (Huastecos, Otomi from Sierra Madre and from Ixmiquilpan Valley) and Mestizo populations. Statistical analysis supports that Americans actual inhabitants and Europeans are genetically similar, while Africans and isolated populations from South America have more genetic differences.
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Etnicidad/genética , Variación Genética/genética , Genética de Población , Repeticiones de Microsatélite/genética , Bases de Datos Genéticas , Frecuencia de los Genes/genética , Humanos , México/etnología , Modelos Teóricos , Reacción en Cadena de la PolimerasaRESUMEN
Genomics have allowed important advances in the knowledge of the etiology and pathogenesis of complex disease entities such as acute lung injury (ALI) and acute respiratory distress syndrome (ARDS). Genomic medicine aims to personalize and optimize diagnosis, prognosis and treatment by determining the influence of genetic polymorphisms in specific diseases. The scientific community must cope with the important challenge of securing rapid transfer of knowledge to clinical practice, in order to prevent patients from becoming exposed to unnecessary risks. In the present article we describe the main concepts of genomic medicine pertaining to ALI/ARDS, and its currently recognized clinical applications.
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Lesión Pulmonar Aguda/genética , Genómica , Síndrome de Dificultad Respiratoria/genética , Humanos , Polimorfismo GenéticoRESUMEN
OBJECTIVE: To describe the incidence, risk factors, and impact on mortality of acute kidney injury (AKI) in patients with 2009 influenza A (H1N1) viral pneumonia requiring mechanical ventilation. DESIGN: Observational cohort study. PATIENTS AND METHODS: AKI was defined as risk, injury or failure, according to the RIFLE classification. Early and late AKI were defined as AKI occurring on intensive care unit (ICU) day 2 or before, or after ICU day 2, respectively. Demographic data and information on organ dysfunction were collected daily. RESULTS: Of 84 patients, AKI developed in 43 patients (51%). Twenty (24%) needed renal replacement therapy. Early and late AKI were found in 28 (33%) and 15 (18%) patients, respectively. Patients with AKI, as compared with patients without AKI, had higher Acute Physiology and Chronic Health Evaluation (APACHE) II score and ICU mortality (72% versus 39%, p < 0.01) and presented on admission more marked cardiovascular, respiratory, and hematological dysfunction. Patients with early but not late AKI presented on admission higher APACHE II score and more marked organ dysfunction, as compared with patients without AKI. ICU mortality was higher in late versus early AKI (93% versus 61%, p < 0.001). On multivariate analysis, only APACHE II score and late but not early AKI [odds ratio (OR) 1.1 (95% confidence interval 1.0-1.1) and 15.1 (1.8-130.7), respectively] were associated with mortality. CONCLUSIONS: AKI is a frequent complication of 2009 influenza A (H1N1) viral pneumonia. AKI developing after 2 days in ICU appears to be associated with different risk factors than early AKI, and is related to a higher mortality rate.
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Lesión Renal Aguda , Enfermedad Crítica , Subtipo H1N1 del Virus de la Influenza A , Gripe Humana/complicaciones , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/etiología , Lesión Renal Aguda/mortalidad , Adulto , Estudios de Cohortes , Femenino , Humanos , Gripe Humana/virología , Unidades de Cuidados Intensivos , Masculino , Auditoría Médica , Persona de Mediana Edad , Medición de Riesgo , Factores de Riesgo , América del Sur/epidemiologíaRESUMEN
Numerous hypotheses have been proposed about the pathogenesis of the polycystic ovarian syndrome (PCOS). However, hormonal control of persistent follicles has not been established. The objective of the present study was to compare the follicular structure and hormonal profiles of rats treated with the adrenocorticotrophic hormone (ACTH) with two experimental models of PCOS. ACTH-treated animals were compared with those exposed to continuous light, those treated with estradiol valerate, and with control (in proestrous and diestrous). Serum hormone levels, histomorphometrical changes, and immunoexpression of vimentin, cytokeratins, cadherins, and proliferating cell nuclear antigen (PCNA) were examined. Treatment with ACTH resulted in an elevation of corticosterone secretion with LH reduction but without changes in ovarian morphology. Although stress (or ACTH) stimulation may be only one of pathophysiological mechanisms involved in follicular cyst pathogenesis in other species, we do not have important evidence to suppose that this would happen in rats.
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Hormona Adrenocorticotrópica/fisiología , Hormonas/sangre , Ovario/patología , Síndrome del Ovario Poliquístico/patología , Síndrome del Ovario Poliquístico/fisiopatología , Animales , Cadherinas/sangre , Proliferación Celular , Corticosterona/sangre , Ciclo Estral/fisiología , Femenino , Hormonas Esteroides Gonadales/sangre , Procesamiento de Imagen Asistido por Computador , Inmunohistoquímica , Queratinas/metabolismo , Folículo Ovárico/patología , Antígeno Nuclear de Célula en Proliferación/sangre , Ratas , Ratas Wistar , Vimentina/metabolismoRESUMEN
The objectives of this work were to determine the changes in the expression of neuroendocrine markers in Leydig cell by oestradiol treatment, and to determine whether testosterone is able to recover partially the effects of hormonal suppression induced by oestradiol. Adult male rats were injected daily with either 50 microg of oestradiol or oestradiol plus testosterone propionate (25 mg every 3 days) for 15 days. The animals were sacrificed and testicles were dissected and processed by routine histological protocols. FSH and LH serum levels were determined by radioimmunoassay. The visualization of antigens was achieved by the streptavidin-peroxidase immunohistochemical method. Antibodies against chromogranin A (CrA), S-100 protein (S-100), P substance (PS), synaptofisin (SYN), neurofilament protein (NF), gliofibrillary acidic protein (GFAP) and neuron specific enolase (NSE) were used. The mean LH and FSH serum concentrations were consistently suppressed with hormonal treatments. Intermediate filaments (NF and GFAP) showed no difference in their expression. The expression of S-100, NSE and SYN was significantly lower in both hormone-treated groups. In oestradiol-treated rats, the immunoreactivity of CrA and SP decreased significantly but was restored after testosterone supplementation. Although the nature and functions of many of these substances in Leydig cells remain unknown, these results are consistent with the hypothesis that the expression of some neuroendocrine markers is hormonally controlled.
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Estradiol/farmacología , Hormona Folículo Estimulante/sangre , Células Intersticiales del Testículo/efectos de los fármacos , Hormona Luteinizante/sangre , Sistemas Neurosecretores/metabolismo , Testosterona/farmacología , Animales , Diferenciación Celular , Inmunohistoquímica/veterinaria , Células Intersticiales del Testículo/metabolismo , Masculino , Sistemas Neurosecretores/citología , Sistemas Neurosecretores/efectos de los fármacos , Radioinmunoensayo/veterinaria , Ratas , Ratas Wistar , Proteínas S100/análisis , Sustancia P/análisis , Sinaptofisina/análisisRESUMEN
The objective of this work was to study the changes that occur in the Leydig cells of rats exposed to continuous light. The laboratory rat is considered a non-photoperiodic species because exposure to short photoperiod has little or no effect on the reproductive status. However, exposure of adult female rats to constant light induces polycystic ovaries, indicating that extreme changes in the photoperiod affect the reproductive function seriously. Adult male rats were placed under continuous light conditions for a duration of 15 weeks. After this period, the animals were killed and testicles were dissected and processed by routine histologic protocols. Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) serum levels were determined by radioimmunoassay (RIA). The visualization of antigens was achieved by the streptavidin-peroxidase immunohistochemical method. Antibodies against chromogranin A, S-100 protein, P substance, synaptofisin, neurofilament protein-200, gliofibrillary acidic protein and neurone-specific enolase were used. The mean LH serum concentration was significantly lower, while the mean FSH level was significantly higher in treated animals. The expression of S-100, NSE, CrA, SP and SYN was significantly lower in treated animals. In conclusion, the constant light exposure acting directly at the pituitary level decreases LH secretion. The increased FSH secretion may be due to a partial reduction of the negative androgen feedback in the pituitary gland. Moreover, the constant light exposure affects the expression of some immunomarkers in Leydig cells, possibly because of the changes found in the gonadotrophin level and feedback mechanism.
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Diferenciación Celular/efectos de la radiación , Hormona Folículo Estimulante/metabolismo , Células Intersticiales del Testículo/efectos de la radiación , Luz , Hormona Luteinizante/metabolismo , Sistemas Neurosecretores/citología , Animales , Cromogranina A , Cromograninas/análisis , Inmunohistoquímica , Células Intersticiales del Testículo/química , Células Intersticiales del Testículo/citología , Masculino , Sistemas Neurosecretores/química , Fosfopiruvato Hidratasa/análisis , Fotoperiodo , Ratas , Ratas Wistar , Proteínas S100/análisis , Sustancia P/análisis , Sinaptofisina/análisisRESUMEN
The aims of this study were to detect the expression of intermediate filaments and to verify the existence of marker substances for neuronal and neuroendocrine cells within the interstitial Leydig cells of laboratory rodent's testes, such as it has been described in other species. Adult male rats, mice, gerbils, Syrian hamsters and guinea-pigs were used and the localization of the different markers was achieved by the streptoavidin-peroxidase immunohistochemical method. The present study demonstrates in all rodents studied a similar pattern of localization in Leydig cells of intermediate filaments (vimentin, cytokeratin, neurofilament 200 kD and glial fibrillary acidic protein) and other marker substances (S-100, CgA, substance P and neurone-specific enolase), which are typical of neuroendocrine (APUD cells or paraneurones) and glial cells. The expression of these substances, related to neurotransmitters or neurohomones and other proteins characteristic of neuroendocrine cells, could suggest that it is a neural crest derived cell. Although this study provides more evidences about the immunoexpression of neuronal and glial markers in Leydig cells, this fact cannot be related directly to their embryological origin, because the current data support the hypothesis of a mesenchymal origin of the Leydig cells.
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Filamentos Intermedios/metabolismo , Células Intersticiales del Testículo/citología , Sistemas Neurosecretores/citología , Roedores/anatomía & histología , Animales , Animales de Laboratorio , Biomarcadores , Cricetinae , Gerbillinae , Cobayas , Procesamiento de Imagen Asistido por Computador , Inmunohistoquímica/veterinaria , Células Intersticiales del Testículo/metabolismo , Masculino , Mesocricetus , Ratones , Sistemas Neurosecretores/metabolismo , Ratas , Ratas Wistar , Roedores/metabolismo , Proteínas S100/análisis , Sustancia P/análisisRESUMEN
Most studies on the biochemistry and structure of the corpus luteum have focused on elucidating the processes of progesterone synthesis and release. In the present work, the histochemical composition of the corpus luteum of the rat was evaluated using lectinhistochemistry on rats at the end of pregnancy (days 18-23). We also analysed the morphology of the luteal cells, to characterize the changes attributable to regression in this organ. Seven biotinylated lectins were used (CON-A, WGA, DBA, SBA, PNA, RCA and UEA-I) following pre-set protocols (ABC method). The average diameter and area of the cells and their nuclei were measured. High reactivity of the luteal cells was observed with CON-A and a lower reactivity with WGA. The capillary endothelium gave positive reactivity with WGA and to a certain extent with SBA, PNA and RCA. Vesicular structures were intensely stained with DBA, and were more abundant in sections from animals with more advanced pregnancy, which could be attributable to cellular debris, on the basis of their morphologic characteristics. There were no significant differences among the cytometric variables analysed in comparisons of the values corresponding to the different days of gestation. These observations, together with previous research, suggest that, on the day of delivery, the corpus luteum of the rat is in the very early stages of structural regression, with no changes at the morphological level, but with changes at the molecular level.