RESUMO
Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. Methods A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 24; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 23; mean 2.61) vs 2 (IQR 23; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. Conclusions DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments. (AU)
Antecedentes: La telangiectasia hemorrágica hereditaria (THH) se caracteriza por la presencia de telangiectasias y malformaciones arteriovenosas de mayor tamaño en diferentes órganos. Las telangiectasias a nivel mucocutáneo pueden sangrar y convertirse en un problema estético, afectando la calidad de vida (CdV). Sin embargo, aún no se ha definido su mejor enfoque terapéutico. Objetivo: Evaluar la eficacia y la seguridad del láser dual secuencial de longitud de onda de 595/1064nm (DWSL) en comparación con el láser de 1064nm (Nd:YAG) solo. Por otro lado, evaluar el deterioro de la calidad de vida en los pacientes con THH y su mejora tras la terapia con láser. Métodos: Estudio prospectivo, doble ciego, aleatorizado, comparativo, de cuerpo dividido (DWSL vs. Nd:YAG). Se registraron las características demográficas, clínicas y del tratamiento. La gravedad y el grado de mejora fueron evaluados por tres examinadores ciegos que calificaron las imágenes previas al tratamiento y posteriores al tratamiento en una escala de 5 puntos. Los pacientes cumplimentaron las pruebas Skindex-29 y FACE-Q® y se evaluó el dolor asociado al procedimiento y la satisfacción del paciente. Resultados: Se analizaron 111 áreas de tratamiento (55 tratadas con DWSL y 56 con Nd:YAG) de 26 pacientes. La mediana del número de sesiones de láser fue de 2 (rango intercuartílico [RIC] 2-4; media 2,90 vs. 2,88, respectivamente). La mediana de la puntuación de mejora, independientemente de la ubicación, fue significativamente mayor para Nd:YAG en comparación con DWSL: 3 (IQR 2-3; media 2,61) frente a 2 (IQR 2-3; media 2,32), p=0,031. Tanto el índice FACE-Q como los resultados de la prueba Skindex-29 mejoraron significativamente (p<0,001), y el 92,4% de los pacientes informaron un alto grado de satisfacción (≥8). No se informaron eventos adversos graves... (AU)
Assuntos
Humanos , Telangiectasia Hemorrágica Hereditária , Lasers de Estado Sólido , Qualidade de Vida , Malformações Arteriovenosas , Terapia a Laser , Telangiectasia Retiniana , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
Antecedentes: La telangiectasia hemorrágica hereditaria (THH) se caracteriza por la presencia de telangiectasias y malformaciones arteriovenosas de mayor tamaño en diferentes órganos. Las telangiectasias a nivel mucocutáneo pueden sangrar y convertirse en un problema estético, afectando la calidad de vida (CdV). Sin embargo, aún no se ha definido su mejor enfoque terapéutico. Objetivo: Evaluar la eficacia y la seguridad del láser dual secuencial de longitud de onda de 595/1064nm (DWSL) en comparación con el láser de 1064nm (Nd:YAG) solo. Por otro lado, evaluar el deterioro de la calidad de vida en los pacientes con THH y su mejora tras la terapia con láser. Métodos: Estudio prospectivo, doble ciego, aleatorizado, comparativo, de cuerpo dividido (DWSL vs. Nd:YAG). Se registraron las características demográficas, clínicas y del tratamiento. La gravedad y el grado de mejora fueron evaluados por tres examinadores ciegos que calificaron las imágenes previas al tratamiento y posteriores al tratamiento en una escala de 5 puntos. Los pacientes cumplimentaron las pruebas Skindex-29 y FACE-Q® y se evaluó el dolor asociado al procedimiento y la satisfacción del paciente. Resultados: Se analizaron 111 áreas de tratamiento (55 tratadas con DWSL y 56 con Nd:YAG) de 26 pacientes. La mediana del número de sesiones de láser fue de 2 (rango intercuartílico [RIC] 2-4; media 2,90 vs. 2,88, respectivamente). La mediana de la puntuación de mejora, independientemente de la ubicación, fue significativamente mayor para Nd:YAG en comparación con DWSL: 3 (IQR 2-3; media 2,61) frente a 2 (IQR 2-3; media 2,32), p=0,031. Tanto el índice FACE-Q como los resultados de la prueba Skindex-29 mejoraron significativamente (p<0,001), y el 92,4% de los pacientes informaron un alto grado de satisfacción (≥8). No se informaron eventos adversos graves... (AU)
Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. Methods: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 24; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 23; mean 2.61) vs 2 (IQR 23; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. Conclusions: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments. (AU)
Assuntos
Humanos , Telangiectasia Hemorrágica Hereditária , Lasers de Estado Sólido , Qualidade de Vida , Malformações Arteriovenosas , Terapia a Laser , Telangiectasia Retiniana , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.
Assuntos
Alumínio , Lasers de Corante , Lasers de Estado Sólido , Telangiectasia Hemorrágica Hereditária , Telangiectasia , Ítrio , Humanos , Lasers de Corante/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Neodímio , Estudos Prospectivos , Qualidade de Vida , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia/etiologia , Telangiectasia/radioterapia , Resultado do TratamentoRESUMO
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.
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Lentinus crinitus (L.) Fr is a wild macrofungus that is popular as antimicrobial and various biological activities. This study aims to determine the capacity growth stimulation of Lactobacillus paracasei and antimicrobial activity of aqueous extracts of L. crinitus obtained from wild basidiomata, mycelial biomass by liquid fermentation and spent mushroom substrate obtained by solid-state fermentation. The antimicrobial activity was investigated against bacterial and fungal pathogens and growth stimulation L. paracasei probiotic bacterium. The total carbohydrate and ß-glucan contents of the extracts were determined using colorimetric analysis. The aqueous extracts obtained showed inhibition against Fusarium oxysporum., Penicillium sp., Rhizopus oryzae, Aspergillus niger, Escherichia coli and Salmonella typhimurium. The aqueous extract obtained from wild basidiomata, and mycelial biomass showed the highest percentage of stimulation of L. paracasei growth in 48 h. The extracts obtained from L. crinitus have antimicrobial potential and stimulating capacity of the probiotic Lactobacillus paracasei. Additionally, different biotechnological techniques such as liquid and solid-state fermentation can be used to obtain aqueous extracts.
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Biomarkers are new tools framed in precision and personalized medicine. Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic vascular disease with disturbances in the angiogenic pathways. Descriptive evidence supports that some angiogenesis-related molecules are differently detected in HHT patients compared to healthy subjects. These molecules are also related to diagnosis, prognosis, complications and therapy monitoring in other common vascular diseases. Despite the need for improving knowledge before applying them in daily clinical practice, there are good candidates to be considered as potential biomarkers in HHT and other vascular diseases. In the present review, the authors aim to summarize and discuss current evidence regarding the main putative angiogenic biomarkers by describing the biological role of each biomarker, the evidence related to HHT and their potential use in this and other common vascular diseases from a clinical point-of-view.
Assuntos
Telangiectasia Hemorrágica Hereditária , Humanos , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/metabolismo , BiomarcadoresRESUMO
El cambio climático consiste fundamentalmente en el calentamiento del planeta, que tiene lugar como consecuencia del llamado efecto invernadero. Ese efecto lo ocasionan determinados gases, entre los que destaca el anhídrido carbónico (CO2), producido principalmente durante la combustión de las fuentes de energía fósiles, como el carbón o el petróleo. El calentamiento del planeta supone una grave amenaza para la población del futuro, ya que puede ocasionar una considerable elevación del nivel del mar, una mayor frecuencia e intensidad de fenómenos meteorológicos extremos, e incluso la desaparición de determinadas especies de animales y plantas. En el terreno de la salud es previsible que provoque un gran aumento de la incidencia de enfermedades como los golpes de calor o las infecciones trasmitidas por vectores, tal y como ya se está empezando a observar. Por ello todos los países del mundo deben adoptar las medidas necesarias para reducir drásticamente las emisiones de gases productores del efecto invernadero. Además, los profesionales de la salud debemos adoptar un papel activo, que ayude a concienciar a nuestra sociedad sobre la gravedad del problema, y que haga que los sistemas sanitarios estén suficientemente preparados para afrontar el incremento de enfermedades que es previsible que se produzca. En ese sentido, la Sociedad Española de Medina Interna ha decidido dar un paso al frente, con su incorporación al proyecto plurinacional Lancet Countdown. La Sociedad Española de Medicina Interna es la primera entidad española en sumarse a esa iniciativa
Climate change consists mainly of global warming, a result of the so-called greenhouse effect, which is caused by certain gases, including carbon dioxide (CO2), produced mainly through the combustion of fossil fuels, such as coal and oil. Global warming is a severe threat for future populations because it can cause a considerable rise in sea levels, a greater frequency and intensity of extreme meteorological phenomena and even the extinction of certain animal and plant species. In the field of health, global warming is predicted to cause a considerable increase in the incidence of diseases such as heat stroke and vector-borne infections, the start of which has already been observed. All countries of the world must therefore adopt the necessary measures to drastically reduce the emission of gases that produce a greenhouse effect. Additionally, healthcare practitioners should assume an active role in helping to raise awareness in our society about the severity of the problem and ensuring that healthcare systems are duly prepared to address the increase in disease rates predicted for global warming. The Spanish Society of Internal Medicine (SEMI) has decided to step forward, with its incorporation into the multinational project Lancet Countdown. SEMI is the first Spanish organisation to join this initiative
Assuntos
Humanos , Mudança Climática/estatística & dados numéricos , Gases de Efeito Estufa/efeitos adversos , Doença Ambiental/prevenção & controle , Prevenção de Doenças , Estratégias de Saúde Globais , Poluentes Atmosféricos/efeitos adversos , Saúde Global/tendênciasRESUMO
Climate change consists mainly of global warming, a result of the so-called greenhouse effect, which is caused by certain gases, including carbon dioxide (CO2), produced mainly through the combustion of fossil fuels, such as coal and oil. Global warming is a severe threat for future populations because it can cause a considerable rise in sea levels, a greater frequency and intensity of extreme meteorological phenomena and even the extinction of certain animal and plant species. In the field of health, global warming is predicted to cause a considerable increase in the incidence of diseases such as heat stroke and vector-borne infections, the start of which has already been observed. All countries of the world must therefore adopt the necessary measures to drastically reduce the emission of gases that produce a greenhouse effect. Additionally, healthcare practitioners should assume an active role in helping to raise awareness in our society about the severity of the problem and ensuring that healthcare systems are duly prepared to address the increase in disease rates predicted for global warming. The Spanish Society of Internal Medicine (SEMI) has decided to step forward, with its incorporation into the multinational project Lancet Countdown. SEMI is the first Spanish organisation to join this initiative.
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El síndrome de Kounis engloba conceptos entre los que se incluyen la angina e infarto alérgico descritos en relación con la exposición a diferentes alérgenos. El objetivo de este artículo es describir un caso de síndrome de Kounis tipo II tras la exposición a rocuronio así como la fisiopatología y tratamiento de este síndrome
Kounis syndrome encompasses concepts including angina and allergic infarction described in relation to exposure to different allergens. The aim of this article is to describe a case of Kounis Syndrome type II after exposure to rocuronium as well as the patholophysiology and the treatment of this syndrome
Assuntos
Humanos , Masculino , Idoso , Síndrome Coronariana Aguda/complicações , Anafilaxia/complicações , Hipersensibilidade a Drogas/complicações , Anestésicos/efeitos adversos , Fármacos Neuromusculares Despolarizantes/efeitos adversos , Fatores de RiscoRESUMO
Highly dense linkage maps enable positioning thousands of landmarks useful for anchoring the whole genome and for analysing genome properties. Turbot is the most important cultured flatfish worldwide and breeding programs in the fifth generation of selection are targeted to improve growth rate, obtain disease resistant broodstock and understand sex determination to control sex ratio. Using a Restriction-site Associated DNA approach, we genotyped 18,214 single nucleotide polymorphism in 1,268 turbot individuals from 31 full-sibling families. Individual linkage maps were combined to obtain a male, female and species consensus maps. The turbot consensus map contained 11,845 markers distributed across 22 linkage groups representing a total normalised length of 3,753.9 cM. The turbot genome was anchored to this map, and scaffolds representing 96% of the assembly were ordered and oriented to obtain the expected 22 megascaffolds according to its karyotype. Recombination rate was lower in males, especially around centromeres, and pairwise comparison of 44 individual maps suggested chromosome polymorphism at specific genomic regions. Genome comparison across flatfish provided new evidence on karyotype reorganisations occurring across the evolution of this fish group.
Assuntos
Mapeamento Cromossômico , Linguados/genética , Ligação Genética , Polimorfismo de Nucleotídeo Único , Animais , Cruzamento , Feminino , Genômica , Masculino , Recombinação Genética , Análise de Sequência de DNA , Processos de Determinação SexualRESUMO
Kounis syndrome encompasses concepts including angina and allergic infarction described in relation to exposure to different allergens. The aim of this article is to describe a case of Kounis Syndrome type II after exposure to rocuronium as well as the patholophysiology and the treatment of this syndrome.
Assuntos
Síndrome de Kounis/etiologia , Fármacos Neuromusculares não Despolarizantes/efeitos adversos , Rocurônio/efeitos adversos , Idoso , Humanos , MasculinoRESUMO
Introducción: En nuestro país la hernioplastia inguinocrural es una de las intervenciones quirúrgicas más frecuentes, pero hay escasos estudios acerca de los resultados a largo plazo. Materiales y método: Estudio observacional de cohorte retrospectiva utilizando base de datos, fichas clínicas y electrónicas, con el objeto de analizar las causas de reintervenciones en hernioplastias inguinocrurales desde el año 2000 hasta el 2010, con seguimiento hasta junio del 2015. Resultados y discusión: Se realizaron 1.765 intervenciones con los códigos de hernia inguinal y femoral, de los cuales 100 casos requirieron reintervención: 84 hombres y 16 mujeres, con edad promedio de 62 años para la primera cirugía. En un tercio se encontró HTA, y en el 38% de los hombres uropatía obstructiva, sin ser estadísticamente significativo (p = 0,6). Se demostró intervención por hernia contralateral en el 38% de los casos, con aparición predominante dentro de los 3 primeros años desde la primera cirugía; en el 37% se demostró recidiva herniaria. Los pacientes que recidivaron equivalen al 2,7% del total de cirugías realizadas, pero al considerar las recidivas solo con técnica de Lichtenstein, esta fue del 1,7% con respecto al total de hernioplastias realizadas, presentándose dentro de los 3 primeros años. En 5 casos se demostró doble recidiva y en 2 casos triple recidiva. Cinco pacientes presentaron complicaciones: 2 hematomas, un seroma, una inguinodinia crónica y un paciente falleció por obstrucción intestinal postoperatoria. Conclusión: Nuestros resultados son similares a casuísticas nacionales y metaanálisis reportados en cuanto a tipo de pacientes, comorbilidades asociadas y porcentaje de recidiva a largo plazo, con menor tasa de complicaciones.
Introduction: In our country, hernioplasty for inguinocrural hernia is one of the most frequent surgical procedures, but there are scanty studies bring over of the long-term results. Materials and method: Observational retrospective cohort study, using clinical data base of patient's clinical history, in order to analyze the cause of reoperations on our inguinocrural hernioplasty data base, from the year 2000 to the year 2010, and with a follow up until June 2015. Results and discussion: In total they were performed 1,765 interventions coded crural and inguinal hernia, 100 cases required reoperation, 84 men and 16 women with an average age of 62 years for the first surgery. In a third hypertension was found, and in 38% of men, obstructive uropathy, not statistically significant (P=.6). Reoperation for contralateral hernia was performed in 38% of the cases, with predominant appearance within the first three years after the first surgery; in 37% of the cases, hernia recurrence was demonstrated. Patients, who recurred, were equivalent to 2.7% of all surgeries performed, but considering Lichtenstein technique, it was only 1.7% of all hernioplasties, occurring within the first three years. In 5 cases, we found double recurrence, and triple recurrence in two. Five patients had complications: two bruising, seroma, chronic inguinal pain and one death by postoperative intestinal obstruction. Conclusion: Our results were similar to those reported in our country in relation to the type of patients, comorbidities and recurrence at long-term, but with a lower rate of complications.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Hérnia Abdominal/cirurgia , Herniorrafia/métodos , Hérnia Femoral/cirurgia , Hérnia Inguinal/cirurgia , Recidiva , Reoperação , Estudos RetrospectivosRESUMO
In aquaculture breeding programmes, selection within families cannot be applied for traits that cannot be recorded on the candidates (e.g., disease resistance or fillet quality). However, this problem can be overcome if genomic evaluation is used. Within-family genomic evaluation has been proposed for these programmes as large family sizes are available and substantial levels of linkage disequilibrium (LD) within families can be attained with a limited number of markers even in populations in global linkage equilibrium. Here, we compare by computer simulation: (i) within-family and population-wide LD; and (ii) the accuracy of within-family genomic selection when genomic evaluations are carried out either at the population level or within families. The population simulated was composed by a varying number of families of full-sibs (half for training and half for testing). The results indicate that, to practice within-family selection, performing the genomic evaluation separately for each family using only molecular information from the family could be recommended for populations either in linkage equilibrium or with a low level of disequilibrium.
Assuntos
Aquicultura/métodos , Cruzamento , Genômica/métodos , Seleção Genética , Animais , Simulação por Computador , Peixes , Desequilíbrio de Ligação , Modelos GenéticosRESUMO
Classical pre-post intervention studies are often analyzed using traditional statistics. Nevertheless, the nutritional interventions have small effects on the metabolism and traditional statistics are not enough to detect these subtle nutrient effects. Generally, this kind of studies assumes that the participants are adhered to the assigned dietary intervention and directly analyzes its effects over the target parameters. Thus, the evaluation of adherence is generally omitted. Although, sometimes, participants do not effectively adhere to the assigned dietary guidelines. For this reason, the trajectory map is proposed as a visual tool where dietary patterns of individuals can be followed during the intervention and can also be related with nutritional prescriptions. The trajectory analysis is also proposed allowing both analysis: 1) adherence to the intervention and 2) intervention effects. The analysis is made by projecting the differences of the target parameters over the resulting trajectories between states of different time-stamps which might be considered either individually or by groups. The proposal has been applied over a real nutritional study showing that some individuals adhere better than others and some individuals of the control group modify their habits during the intervention. In addition, the intervention effects are different depending on the type of individuals, even some subgroups have opposite response to the same intervention.
Assuntos
Atitude Frente a Saúde , Biologia Computacional/métodos , Promoção da Saúde/métodos , Nutrigenômica/métodos , Adulto , Aterosclerose/genética , Aterosclerose/metabolismo , Análise por Conglomerados , Dieta Mediterrânea , Humanos , Pessoa de Meia-Idade , Modelos Teóricos , Adulto JovemRESUMO
We have evaluated the use of genomic coancestry coefficients based on shared segments for the maintenance of genetic diversity through optimal contributions methodology for populations of three different Austrian cattle breeds. This coancestry measure has been compared with the genomic coancestry coefficient calculated on a SNP-by-SNP basis and with pedigree-based coancestry. The regressions of the shared segments coancestry on the other two coefficients suggest that the former mainly reflect Identity By Descent but with the advantage over pedigree-based coancestry of providing the realized Identity By Descent rather than an expectation. The effective population size estimated from the rate of coancestry based on shared segments was very similar to those obtained with the other coefficients and of small magnitude (from 26.24 to 111.90). This result highlights the importance of implementing active management strategies to control the increase of inbreeding and the loss of genetic diversity in livestock breeds, even when the population size is reasonably large. One problem for the implementation of coancestry based on shared segments is the need of estimating the gametic phases of the SNPs which, given the techniques used to obtain the genotypes, are a priori unknown. This study shows, through computer simulations, that using estimates of gametic phases for computing coancestry based on shared segments does not lead to a significant loss in the diversity maintained. This has been shown to be true even when the size of the population is very small as it is usually the case in populations subjected to conservation programmes.
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Bovinos/genética , Variação Genética , Animais , Simulação por Computador , Feminino , Genética Populacional , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
We carried out a comprehensive genomic analysis of porcine copy number variants (CNVs) based on whole-genome SNP genotyping data and provided new measures of genomic diversity (number, length and distribution of CNV events) for a highly inbred strain (the Guadyerbas strain). This strain represents one of the most ancient surviving populations of the Iberian breed, and it is currently in serious danger of extinction. CNV detection was conducted on the complete Guadyerbas population, adjusted for genomic waves, and used strict quality criteria, pedigree information and the latest porcine genome annotation. The analysis led to the detection of 65 CNV regions (CNVRs). These regions cover 0.33% of the autosomal genome of this particular strain. Twenty-nine of these CNVRs were identified here for the first time. The relatively low number of detected CNVRs is in line with the low variability and high inbreeding estimated previously for this Iberian strain using pedigree, microsatellite or SNP data. A comparison across different porcine studies has revealed that more than half of these regions overlap with previously identified CNVRs or multicopy regions. Also, a preliminary analysis of CNV detection using whole-genome sequence data for four Guadyerbas pigs showed overlapping for 16 of the CNVRs, supporting their reliability. Some of the identified CNVRs contain relevant functional genes (e.g., the SCD and USP15 genes), which are worth being further investigated because of their importance in determining the quality of Iberian pig products. The CNVR data generated could be useful for improving the porcine genome annotation.
Assuntos
Variações do Número de Cópias de DNA , Polimorfismo de Nucleotídeo Único , Sus scrofa/genética , Animais , Feminino , Endogamia , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , EspanhaRESUMO
Malignant teratoma of the thyroid is a rare and aggressive tumor, frequent in children than in adults. Histologically, thyroid teratomas usually show a predominance of a neuroectodermal component. Mature cartilage and bone may be present. We present the case of primary malignant teratoma of the thyroid in a 64-year-old man. Histologically, the tumor displayed a predominant neuroectodermal component. The diagnosis was confirmed by immunohistochemistry. The patient underwent a radical thyroidectomy with central neck dissection as primary treatment and radioiodine treatment afterwards. The patient had local and distant recurrence. A second surgery was performed with poor results and the patient died 3 months afterwards.
Assuntos
Teratoma/patologia , Neoplasias da Glândula Tireoide/patologia , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Teratoma/diagnóstico , Teratoma/cirurgia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , TireoidectomiaRESUMO
Conservation programmes aim at minimising the loss of genetic diversity, which allows populations to adapt to potential environmental changes. This can be achieved by calculating how many offspring every individual should contribute to the next generation to minimise global coancestry. However, an undesired consequence of this strategy is that it maintains deleterious mutations, compromising the viability of the population. In order to avoid this, optimal contributions could be combined with inbred matings, to expose and eliminate recessive deleterious mutations by natural selection in a process known as purging. Although some populations that have undergone purging experienced reduced inbreeding depression, this effect is not consistent across species. Whether purging by inbred matings is efficient in conservation programmes depends on the balance between the loss of diversity, the initial decrease in fitness and the reduction in mutational load. Here we perform computer simulations to determine whether managing a population by combining optimal contributions with inbred matings improves its long-term viability while keeping reasonable levels of diversity. We compare the management based on genealogical information with management based on molecular data to calculate coancestries. In the scenarios analysed, inbred matings never led to higher fitness and usually maintained lower diversity than random or minimum coancestry matings. Replacing genealogical with molecular coancestry can maintain a larger genetic diversity but can also lead to a lower fitness. Our results are strongly dependent on the mutational model assumed for the trait under selection, the population size during management and the reproductive rate.
