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1.
Vet Sci ; 11(1)2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38250946

RESUMO

This study aimed to update the Streptococcus suis serotype distribution in Spain by analysing 302 clinical isolates recovered from diseased pigs between 2020 and 2022. The main objectives were to identify prevalent serotypes, differentiate specific serotypes 1, 14, 2, and 1/2, investigate specific genotypic and phenotypic antimicrobial resistance features, and explore associations between resistance genes and phenotypic resistances. Serotypes 9 (21.2%), 1 (16.2%), 2 (15.6%), 3 (6%), and 7 (5.6%) were the most prevalent, whereas serotypes 14 and 1/2 corresponded with 4.3% and 0.7% of all isolates. Antimicrobial resistance genes, including tet(O), erm(B), lnu(B), lsa(E), tet(M), and mef(A/E), were analysed, which were present in 85.8%, 65.2%, 7%, 7%, 6.3%, and 1% of the samples, respectively. Susceptibility testing for 18 antimicrobials revealed high resistance levels, particularly for clindamycin (88.4%), chlortetracycline (89.4%), and sulfadimethoxine (94.4%). Notably, seven significant associations (p < 0.0001) were detected, correlating specific antimicrobial resistance genes to the observed phenotypic resistance. These findings contribute to understanding the S. suis serotype distribution and its antibiotic resistance profiles in Spain, offering valuable insights for veterinary and public health efforts in managing S. suis-associated infections.

2.
Liver Int ; 43(9): 1909-1919, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37288714

RESUMO

BACKGROUND AND AIMS: Extracellular vesicles (EVs) have emerged as a potential source of circulating biomarkers in liver disease. We evaluated circulating AV+ EpCAM+ CD133+ EVs as a potential biomarker of the transition from simple steatosis to steatohepatitis. METHODS: EpCAM and CD133 liver proteins and EpCAM+ CD133+ EVs levels were analysed in 31 C57BL/6J mice fed with a chow or high fat, high cholesterol and carbohydrates diet (HFHCC) for 52 weeks. The hepatic origin of MVs was addressed using AlbCrexmT/mG mice fed a Western (WD) or Dual diet for 23 weeks. Besides, we assessed plasma MVs in 130 biopsy-proven NAFLD patients. RESULTS: Hepatic expression of EpCAM and CD133 and EpCAM+ CD133+ EVs increased during disease progression in HFHCC mice. GFP+ MVs were higher in AlbCrexmT/mG mice fed a WD (5.2% vs 12.1%) or a Dual diet (0.5% vs 7.3%). Most GFP+ MVs were also positive for EpCAM and CD133 (98.3% and 92.9% respectively), suggesting their hepatic origin. In 71 biopsy-proven NAFLD patients, EpCAM+ CD133+ EVs were significantly higher in those with steatohepatitis compare to those with simple steatosis (286.4 ± 61.9 vs 758.4 ± 82.3; p < 0.001). Patients with ballooning 367 ± 40.6 vs 532.0 ± 45.1; p = 0.01 and lobular inflammation (321.1 ± 74.1 vs 721.4 ± 80.1; p = 0.001), showed higher levels of these EVs. These findings were replicated in an independent cohort. CONCLUSIONS: Circulating levels of EpCAM+ CD133+ MVs in clinical and experimental NAFLD were increased in the presence of steatohepatitis, showing high potential as a non-invasive biomarker for the evaluation and management of these patients.


Assuntos
Vesículas Extracelulares , Hepatopatia Gordurosa não Alcoólica , Animais , Camundongos , Hepatopatia Gordurosa não Alcoólica/metabolismo , Molécula de Adesão da Célula Epitelial/metabolismo , Camundongos Endogâmicos C57BL , Fígado/metabolismo , Vesículas Extracelulares/metabolismo , Biomarcadores , Modelos Animais de Doenças , Dieta Hiperlipídica
3.
Artigo em Inglês | MEDLINE | ID: mdl-35742296

RESUMO

The highest proportion of deaths among patients with cardiovascular diseases is due to ischemic heart disease (IHD), which is the second most common cause of death in Peru. This study aims to measure and identify changes in the temporal trend in mortality from ischemic heart disease in the Peruvian population. An ecological study was carried out with data from individual death records from the Ministry of Health between 2005 and 2017. A death was considered attributable to IHD if it was registered with the codes I20 to I25 of the ICD-10. Crude and adjusted mortality rates for IHD were calculated for the general population by age and according to sex. A joinpoint regression analysis was performed to assess trends in IHD mortality. There were 61,524 deaths due to IHD (55.69% men) from 2005 to 2017. According to the ICD-10, acute myocardial infarction (I21) accounted for the highest proportion of deaths (88.16%), followed by chronic IHD (I25), with 6.53%. In general, a decrease in adjusted IHD mortality rates was found in the general population over time (45.34 in 2005; 22.18 in 2017). By sex, men possessed a 1.5-fold higher rate than women. The highest mortality rates from IHD were found in the natural coastal region (68.55%) and in urban areas (86.43%). A joinpoint regression analysis showed a reduction in the mortality trend over time due to IHD for both the general population and the population when grouped by sex. In conclusion, there was a continuous decrease in mortality rates due to IHD in the Peruvian population between 2005 and 2017. Strategies focused on mitigating the impact of this disease are required and should emphasize the subgroups most likely to die from this cause.


Assuntos
Infarto do Miocárdio , Isquemia Miocárdica , Feminino , Humanos , Masculino , Mortalidade , Peru/epidemiologia
4.
Front Cell Infect Microbiol ; 11: 642583, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34123866

RESUMO

Genetic variability across the three major histocompatibility complex (MHC) class I genes (human leukocyte antigen [HLA] A, B, and C) may affect susceptibility to many diseases such as cancer, auto-immune or infectious diseases. Individual genetic variation may help to explain different immune responses to microorganisms across a population. HLA typing can be fast and inexpensive; however, deciphering peptides loaded on MHC-I and II which are presented to T cells, require the design and development of high-sensitivity methodological approaches and subsequently databases. Hence, these novel strategies and databases could help in the generation of vaccines using these potential immunogenic peptides and in identifying high-risk HLA types to be prioritized for vaccination programs. Herein, the recent developments and approaches, in this field, focusing on the identification of immunogenic peptides have been reviewed and the next steps to promote their translation into biomedical and clinical practice are discussed.


Assuntos
Antígenos de Histocompatibilidade Classe II , Antígenos de Histocompatibilidade Classe I , Antígenos HLA , Humanos , Peptídeos , Linfócitos T
5.
Comput Intell Neurosci ; 2021: 4632353, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34987565

RESUMO

Real-time vehicle monitoring in highways, roads, and streets may provide useful data both for infrastructure planning and for traffic management in general. Even though it is a classic research area in computer vision, advances in neural networks for object detection and classification, especially in the last years, made this area even more appealing due to the effectiveness of these methods. This study presents TrafficSensor, a system that employs deep learning techniques for automatic vehicle tracking and classification on highways using a calibrated and fixed camera. A new traffic image dataset was created to train the models, which includes real traffic images in poor lightning or weather conditions and low-resolution images. The proposed system consists mainly of two modules, first one responsible of vehicle detection and classification and a second one for vehicle tracking. For the first module, several neural models were tested and objectively compared, and finally, the YOLOv3 and YOLOv4-based network trained on the new traffic dataset were selected. The second module combines a simple spatial association algorithm with a more sophisticated KLT (Kanade-Lucas-Tomasi) tracker to follow the vehicles on the road. Several experiments have been conducted on challenging traffic videos in order to validate the system with real data. Experimental results show that the proposed system is able to successfully detect, track, and classify vehicles traveling on a highway on real time.


Assuntos
Aprendizado Profundo , Algoritmos , Redes Neurais de Computação , Tempo (Meteorologia)
6.
Nanomaterials (Basel) ; 10(7)2020 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-32610601

RESUMO

The broad relationship between the immune system and cancer is opening a new hallmark to explore for nanomedicine. Here, all the common and synergy points between both areas are reviewed and described, and the recent approaches which show the progress from the bench to the beside to biomarkers developed in nanomedicine and onco-immunotherapy.

7.
Nanomaterials (Basel) ; 9(10)2019 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-31554176

RESUMO

Nanotechnology is a multidisciplinary science covering matters involving the nanoscale level that is being developed for a great variety of applications. Nanomedicine is one of these attractive and challenging uses focused on the employment of nanomaterials in medical applications such as drug delivery. However, handling these nanometric systems require defining specific parameters to establish the possible advantages and disadvantages in specific applications. This review presents the fundamental factors of nanoparticles and its microenvironment that must be considered to make an appropriate design for medical applications, mainly: (i) Interactions between nanoparticles and their biological environment, (ii) the interaction mechanisms, (iii) and the physicochemical properties of nanoparticles. On the other hand, the repercussions of the control, alter and modify these parameters in the biomedical applications. Additionally, we briefly report the implications of nanoparticles in nanomedicine and precision medicine, and provide perspectives in immunotherapy, which is opening novel applications as immune-oncology.

8.
Psicothema (Oviedo) ; 31(3): 239-245, ago. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-185349

RESUMO

Background: Experimental substance use among young people is related to individual factors including personality traits such as impulsivity and sensation seeking, and genetic variations such as single nucleotide polymorphisms (SNPs) in the fatty acid amide hydrolase (FAAH) gene. The objective of this study is to analyze the relationship between these three sets of variables. Methods: Volunteer undergraduate students (N = 861, 76% female, M = 20.7 years) completed an ad hoc questionnaire on variables related to their consumption of alcohol, tobacco, cannabis, synthetic drugs and cocaine. In addition, 591 of them completed the Barratt Impulsiveness Scale-11 (BIS-11) and the Sensation Seeking Scale-V (SSS-V). All participants were genotyped in FAAH C385A SNP and its proxy variant rs12075550. Results: Consistent with previous data, both impulsivity and sensation seeking were associated with most of the variables related to experimental substance use. In addition, we found the first evidence of an association between the rs12075550 SNP and some of these consumption phenotypes. However, no significant association was found between either of the two SNPs and impulsivity or sensation seeking. Conclusions: The results highlight the importance of considering both personality and genetic differences, together with contextual factors, in the analysis of substance use


Antecedentes: el uso experimental de sustancias en los jóvenes está relacionada con factores individuales que incluyen rasgos de personalidad, como impulsividad o búsqueda de sensaciones, y variaciones genéticas, como polimorfismos de un solo nucleótido (SNPs) del gen amida hidrolasa de ácidos grasos (FAAH). El objetivo de este estudio es analizar la relación entre estos tres conjuntos de variables. Método: estudiantes universitarios voluntarios (N = 861, 76% mujeres, M = 20,7 años) rellenaron un cuestionario ad hoc de variables relacionadas con el consumo de alcohol, tabaco, cannabis, drogas sintéticas y cocaína. Además, 591 de ellos rellenaron las escalas BIS-11 y SSS-V. Se genotipó a todos ellos en SNP FAAH C385A y su variante proxy rs12075550. Resultados: como se esperaba, la impulsividad y la búsqueda de sensaciones estuvieron asociadas con la mayor parte de las variables relativas al uso experimental de sustancias. Además, encontramos por primera vez evidencia de una asociación entre rs12075550 y algunos de estos fenotipos de consumo. Sin embargo, no encontramos asociaciones significativas entre SNPs e impulsividad o búsqueda de sensaciones. Conclusiones: los resultados resaltan la importancia de tener en cuenta las diferencias genéticas y las de personalidad, junto con los factores contextuales, al analizar el uso de sustancias


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Amidoidrolases/genética , Comportamento Impulsivo , Personalidade , Polimorfismo de Nucleotídeo Único , Sensação , Transtornos Relacionados ao Uso de Substâncias/genética , Transtornos Relacionados ao Uso de Substâncias/psicologia , Alelos , Variação Genética , Testes de Personalidade , Fenótipo , Assunção de Riscos , Saliva , Sensação/genética , Estudantes , Transtornos Relacionados ao Uso de Substâncias/enzimologia , Inquéritos e Questionários
9.
Psicothema ; 31(3): 239-245, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31292037

RESUMO

BACKGROUND: Experimental substance use among young people is related to individual factors including personality traits such as impulsivity and sensation seeking, and genetic variations such as single nucleotide polymorphisms (SNPs) in the fatty acid amide hydrolase (FAAH) gene. The objective of this study is to analyze the relationship between these three sets of variables. METHODS: Volunteer undergraduate students (N = 861, 76% female, M = 20.7 years) completed an ad hoc questionnaire on variables related to their consumption of alcohol, tobacco, cannabis, synthetic drugs and cocaine. In addition, 591 of them completed the Barratt Impulsiveness Scale-11 (BIS-11) and the Sensation Seeking Scale-V (SSS-V). All participants were genotyped in FAAH C385A SNP and its proxy variant rs12075550. RESULTS: Consistent with previous data, both impulsivity and sensation seeking were associated with most of the variables related to experimental substance use. In addition, we found the first evidence of an association between the rs12075550 SNP and some of these consumption phenotypes. However, no significant association was found between either of the two SNPs and impulsivity or sensation seeking. CONCLUSIONS: The results highlight the importance of considering both personality and genetic differences, together with contextual factors, in the analysis of substance use.


Assuntos
Amidoidrolases/genética , Comportamento Impulsivo , Personalidade , Polimorfismo de Nucleotídeo Único , Sensação , Transtornos Relacionados ao Uso de Substâncias/genética , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adolescente , Adulto , Alelos , Feminino , Variação Genética , Humanos , Masculino , Testes de Personalidade , Fenótipo , Assunção de Riscos , Saliva , Sensação/genética , Estudantes , Transtornos Relacionados ao Uso de Substâncias/enzimologia , Inquéritos e Questionários , Adulto Jovem
11.
Circulation ; 134(15): 1085-1099, 2016 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-27630136

RESUMO

BACKGROUND: Left ventricular (LV) stiffening contributes to heart failure with preserved ejection fraction (HFpEF), a syndrome with no effective treatment options. Increasing the compliance of titin in the heart has become possible recently through inhibition of the splicing factor RNA binding motif-20. Here, we investigated the effects of increasing the compliance of titin in mice with diastolic dysfunction. METHODS: Mice in which the RNA recognition motif (RRM) of one of the RNA binding motif-20 alleles was floxed and that expressed the MerCreMer transgene under control of the αMHC promoter (referred to as cRbm20ΔRRM mice) were used. Mice underwent transverse aortic constriction (TAC) surgery and deoxycorticosterone acetate (DOCA) pellet implantation. RRM deletion in adult mice was triggered by injecting raloxifene (cRbm20ΔRRM-raloxifene), with dimethyl sulfoxide (DMSO)-injected mice (cRbm20ΔRRM-DMSO) as the control. Diastolic function was investigated with echocardiography and pressure-volume analysis; passive stiffness was studied in LV muscle strips and isolated cardiac myocytes before and after elimination of titin-based stiffness. Treadmill exercise performance was also studied. Titin isoform expression was evaluated with agarose gels. RESULTS: cRbm20ΔRRM-raloxifene mice expressed large titins in the hearts, called supercompliant titin (N2BAsc), which, within 3 weeks after raloxifene injection, made up ≈45% of total titin. TAC/DOCA cRbm20ΔRRM-DMSO mice developed LV hypertrophy and a marked increase in LV chamber stiffness as shown by both pressure-volume analysis and echocardiography. LV chamber stiffness was normalized in TAC/DOCA cRbm20ΔRRM-raloxifene mice that expressed N2BAsc. Passive stiffness measurements on muscle strips isolated from the LV free wall revealed that extracellular matrix stiffness was equally increased in both groups of TAC/DOCA mice (cRbm20ΔRRM-DMSO and cRbm20ΔRRM-raloxifene). However, titin-based muscle stiffness was reduced in the mice that expressed N2BAsc (TAC/DOCAcRbm20ΔRRM-raloxifene). Exercise testing demonstrated significant improvement in exercise tolerance in TAC/DOCA mice that expressed N2BAsc. CONCLUSIONS: Inhibition of the RNA binding motif-20-based titin splicing system upregulates compliant titins, which improves diastolic function and exercise tolerance in the TAC/DOCA model. Titin holds promise as a therapeutic target for heart failure with preserved ejection fraction.


Assuntos
Diástole/genética , Tolerância ao Exercício/genética , Insuficiência Cardíaca/genética , Proteínas de Ligação a RNA/genética , Função Ventricular Esquerda/genética , Animais , Complacência (Medida de Distensibilidade) , Conectina/fisiologia , Diástole/fisiologia , Modelos Animais de Doenças , Insuficiência Cardíaca/metabolismo , Insuficiência Cardíaca/fisiopatologia , Hipertrofia Ventricular Esquerda/metabolismo , Camundongos , Camundongos Transgênicos , Motivos de Ligação ao RNA/genética , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia
13.
Arch Suicide Res ; 19(1): 17-34, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-24810383

RESUMO

The objective of this study was to identify factors associated with hospital admission after suicide spectrum behaviors. Patients' characteristics, the nature of the suicidal behavior, admission rates between centers, and factors associated with admission have been examined in suicide spectrum presentations to emergency departments in 3 Spanish cities. The intent of the suicidal behavior had the greatest impact on hospitalization. Older age, living alone, self-harm method not involving drug overdose, previous history of suicide spectrum behaviors, and psychiatric diagnosis of schizophrenia, mood, or personality disorder were independently associated with being admitted. There was a 3-fold between-center difference in the rate of hospitalization. Widespread differences in the rate of hospitalization were primarily accounted for by characteristics of the individual patients and their suicidal behavior.


Assuntos
Hospitalização/estatística & dados numéricos , Comportamento Autodestrutivo/epidemiologia , Tentativa de Suicídio/estatística & dados numéricos , Adolescente , Adulto , Fatores Etários , Idoso , Overdose de Drogas/epidemiologia , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos do Humor/epidemiologia , Transtornos da Personalidade/epidemiologia , Características de Residência/estatística & dados numéricos , Fatores de Risco , Esquizofrenia/epidemiologia , Espanha/epidemiologia , Adulto Jovem
14.
Eur Neurol ; 71(5-6): 313-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24685765

RESUMO

BACKGROUND: Since atrial fibrillation (AF) may be undiagnosed when asymptomatic and paroxysmal, we aimed to investigate the incidence and determinants of silent AF in patients with acute ischemic stroke or transient ischemic attack (TIA). METHODS: Consecutive patients admitted to the Stroke Unit of the University Hospital of Dijon, France, for acute ischemic stroke or TIA were prospectively enrolled from March to December 2012. Silent AF was assessed by continuous electrocardiography (ECG) monitoring for 24 h after admission. An echocardiography was performed at day 2 ± 1 to measure left ventricular ejection fraction (LVEF) and left auricular (LA) dimensions. RESULTS: Among the 187 patients included, 19 (10%) developed silent AF. Patients with silent AF were markedly older (76 vs. 66 years, p < 0.002), with lower creatinine levels (90 vs. 80 µmol/l, p = 0.030) and were less often smokers (5 vs. 24%, p = 0.058) than patients without silent AF. They also showed a trend towards more frequent hypertension and a recent history of infection. Patients with silent AF had a larger indexed LA volume (37.4 vs. 30.8 ml/m(3), p = 0.057) and LA diameter (23.2 vs. 20.8 mm/m(2), p = 0.059). LVEF in the two groups was similar. In multivariate analysis, only age remained an independent estimate of silent AF. CONCLUSION: Silent AF detected by continuous ECG monitoring is common and closely associated with older age. Further studies are needed to investigate the interest of systematically screening for silent AF for secondary prevention after ischemic stroke/TIA.


Assuntos
Fibrilação Atrial/epidemiologia , Fibrilação Atrial/fisiopatologia , Ataque Isquêmico Transitório/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Fatores Etários , Idoso , Fibrilação Atrial/diagnóstico , Isquemia Encefálica/epidemiologia , Creatinina/sangue , Eletrocardiografia , Feminino , Hospitalização , Humanos , Masculino , Monitorização Fisiológica , Análise Multivariada , Prognóstico , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade , Fumar/epidemiologia
15.
Biores Open Access ; 2(6): 431-9, 2013 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-24380053

RESUMO

Given their capacity to modulate the immune response, adipose mesenchymal stem or stromal cells (ASCs) have been used as therapeutic tools to treat chronic inflammatory and autoimmune diseases both in preclinical and clinical studies. Patients enrolled in such clinical trials are often concomitantly treated with immunomodulatory drugs such as methotrexate (MTX) or azathioprine (AZA). Therefore it is necessary to investigate the possible impact of these drugs on ASC function to learn if there are any interactions that would affect the therapeutic effects of either component and thus the clinical outcome of the trials. ASCs were cultured in the absence or presence of MTX or AZA and the effects on viability, proliferation, immunomodulatory properties, and immunogenic features were studied in vitro. The drugs did not affect the viability and proliferative capacity of ASCs. When the drugs and the ASCs were concomitantly used to inhibit lymphocyte proliferation, no synergistic or antagonizing inhibitory effects were found. MTX and AZA did not impair the capacity of ASCs to induce the generation of regulatory T cells in vitro. These data confirm that the immunomodulating features of ASCs are fully functional after exposure to these drugs. Interestingly, whereas MTX did not affect the capacity of natural killer (NK) cells to lyse allogeneic ASCs in vitro, AZA protected allogeneic ASCs from NK cell lysis.

16.
J Virol ; 85(9): 4258-70, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21345965

RESUMO

Trichomonas vaginalis, which causes the most common nonviral sexually transmitted disease worldwide, is itself commonly infected by nonsegmented double-stranded RNA (dsRNA) viruses from the genus Trichomonasvirus, family Totiviridae. To date, cDNA sequences of one or more strains of each of three trichomonasvirus species have been reported, and gel electrophoresis showing several different dsRNA molecules obtained from a few T. vaginalis isolates has suggested that more than one virus strain might concurrently infect the same parasite cell. Here, we report the complete cDNA sequences of 3 trichomonasvirus strains, one from each of the 3 known species, infecting a single, agar-cloned clinical isolate of T. vaginalis, confirming the natural capacity for concurrent (in this case, triple) infections in this system. We furthermore report the complete cDNA sequences of 11 additional trichomonasvirus strains, from 4 other clinical isolates of T. vaginalis. These additional strains represent the three known trichomonasvirus species, as well as a newly identified fourth species. Moreover, 2 of these other T. vaginalis isolates are concurrently infected by strains of all 4 trichomonasvirus species (i.e., quadruple infections). In sum, the full-length cDNA sequences of these 14 new trichomonasviruses greatly expand the existing data set for members of this genus and substantiate our understanding of their genome organizations, protein-coding and replication signals, diversity, and phylogenetics. The complexity of this virus-host system is greater than has been previously well recognized and suggests a number of important questions relating to the pathogenesis and disease outcomes of T. vaginalis infections of the human genital mucosa.


Assuntos
Genoma Viral , RNA Viral/genética , Totiviridae/classificação , Totiviridae/isolamento & purificação , Tricomoníase/parasitologia , Trichomonas vaginalis/isolamento & purificação , Trichomonas vaginalis/virologia , Análise por Conglomerados , DNA Complementar/química , DNA Complementar/genética , Feminino , Humanos , Dados de Sequência Molecular , Filogenia , Análise de Sequência de DNA , Homologia de Sequência , Totiviridae/genética
17.
Acta pediátr. costarric ; 15(2): 64-77, 2001. ilus
Artigo em Espanhol | LILACS | ID: lil-581721

RESUMO

Objetivo. Estimar la dosis génica en el gen de la distrofina a mujeres a riesgo de ser portadoras de delecciones. Sitio de realización INISA y Escuela de Biología, Universidad de Costa Rica. Materiales y métodos. Se obtuvo ADN de 15 mujeres, emparentadas por línea materna con pacientes afectados con DMD o BMD causadas por deleciones en el gen de la distrofina, y que por lo tanto podría ser portadoras de esas mutaciones, para amplificar de 7 a 9 regiones del gen por medio de PCR-múltiplex. Para estimar la dosis génica, se marcó uno de los imprimadores (el F) de cada par con el fluorocromo 6-FAM; los productos de amplificación por electroforesis capilar fluorescente. Resultados. Todas las posibles portadoras mostraron dosis génicas como las de mujeres sin delecciones. Conclusiones. El resultado indica que todos los pacientes son producto de mutaciones de novo, lo que es inesperado, pues datos de otros países muestran que ese es el caso de a sólo 1/3 de los pacientes. Además, la evaluación ofrece mejores elementos de juicio para brindar consejo genético. Palabras clave: Distrofina, Duchenne, Beckerkiener, portadoras, deleciones, herencia ligada al cromosoma X, PCR, electroforesis capilar fluorescente, dosis génica.


Assuntos
Humanos , Feminino , DNA , Distrofina , Eletroforese Capilar , Costa Rica
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