RESUMEN

Foodborne diseases are common illnesses caused by the consumption of food contaminated with microorganisms, such as viruses, fungi, bacteria, and protozoa. Every year, 600 million people become ill and 420,000 people die as a result of consuming contaminated food. Therefore, food safety is an important issue. In this study, samples of homemade spiced mayonnaise and self-serve acai sold in the city of Araguaína, Tocantins, Brazil were analyzed for microbiological contaminants. Acai was collected from 10 stores, one sample from each store, and tested for mold, yeast, and coliforms, as well as coliform identification and total and thermotolerant coliform counts. Mayonnaise was collected from 20 snack bars, one sample from each. These samples were inoculated on MacConkey and Salmonella Shigella agar plates, and the plates were analyzed for growth. Salmonella spp. were detected in some Mayonnaise samples, and coliforms were detected in all acai samples; 60% of samples had thermotolerant coliforms, and only 40% were within the limits established by ANVISA. The collected samples of mayonnaise and acai were contaminated with molds and yeasts above the established limit of 103 CFU/g. Thus, the analyzed mayonnaise and acai samples were contaminated and unfit for consumption, demonstrating the importance of hygienic-sanitary measures in food handling.

Asunto(s)

Alimentos , Humanos , Brasil , Agar

RESUMEN

Abstract Foodborne diseases are common illnesses caused by the consumption of food contaminated with microorganisms, such as viruses, fungi, bacteria, and protozoa. Every year, 600 million people become ill and 420,000 people die as a result of consuming contaminated food. Therefore, food safety is an important issue. In this study, samples of homemade spiced mayonnaise and self-serve acai sold in the city of Araguaína, Tocantins, Brazil were analyzed for microbiological contaminants. Acai was collected from 10 stores, one sample from each store, and tested for mold, yeast, and coliforms, as well as coliform identification and total and thermotolerant coliform counts. Mayonnaise was collected from 20 snack bars, one sample from each. These samples were inoculated on MacConkey and Salmonella Shigella agar plates, and the plates were analyzed for growth. Salmonella spp. were detected in some Mayonnaise samples, and coliforms were detected in all acai samples; 60% of samples had thermotolerant coliforms, and only 40% were within the limits established by ANVISA. The collected samples of mayonnaise and acai were contaminated with molds and yeasts above the established limit of 103 CFU/g. Thus, the analyzed mayonnaise and acai samples were contaminated and unfit for consumption, demonstrating the importance of hygienic-sanitary measures in food handling.

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Resumo As doenças transmitidas por alimentos são doenças comuns causadas pelo consumo de alimentos contaminados com microrganismos, como vírus, fungos, bactérias e protozoários. Todos os anos, 600 milhões de pessoas ficam doentes e 420.000 pessoas morrem como resultado do consumo de alimentos contaminados. Portanto, a segurança alimentar é uma questão importante. Neste estudo, amostras de maionese temperada caseira e açaí self-service vendidas na cidade de Araguaína, Tocantins, Brasil foram analisadas quanto a contaminantes microbiológicos. O açaí foi coletado em 10 lojas, uma amostra de cada loja, e testado para mofo, levedura e coliformes, bem como identificação de coliformes e contagem de coliformes totais e termotolerantes. A maionese foi coletada de 20 lanchonetes, sendo uma amostra de cada. Essas amostras foram inoculadas em placas de ágar MacConkey e Salmonella Shigella, e as placas foram analisadas quanto ao crescimento. Salmonela spp. foram detectados em algumas amostras de maionese e coliformes foram detectados em todas as amostras de açaí; 60% das amostras apresentaram coliformes termotolerantes, e apenas 40% estavam dentro dos limites estabelecidos pela ANVISA. As amostras coletadas de maionese e açaí estavam contaminadas com bolores e leveduras acima do limite estabelecido de 103 UFC/g. Assim, as amostras de maionese e açaí analisadas estavam contaminadas e impróprias para o consumo, demonstrando a importância das medidas higiênico-sanitárias na manipulação de alimentos.

RESUMEN

Resumen El síndrome de braquiespina es una condición genética de la raza Holstein, detectada en el año 2006. Es causado por una deleción de 3.3 Kb en el gen FANCI localizado en el cromosoma bovino 21. La mutación fue identificada en poblaciones de Holstein de Europa, América del Norte y Asia. Dada la importancia económica del defecto y su amplia distribución mundial, el objetivo de este trabajo ha sido la identificación de animales portadores en el núcleo de selección genética de la raza en Uruguay y el diagnóstico molecular del alelo deletéreo en animales del rodeo nacional. En el presente estudio se analizaron 2598 registros de toros Holstein del catálogo de padres del sistema de evaluación genética lechera, los registros de toros pertenecientes a los catálogos de semen Holstein disponible para Uruguay de los años 2014 al 2018; y 71 vacas pertenecientes al rodeo general. Se encontraron 28 toros portadores de braquiespina de un total de 377 toros con información genética del catálogo de padres y cuatro vacas portadoras de un total de 71 genotipificadas en nuestro laboratorio. Se demostró una disminución en el ingreso de semen de animales portadores al país entre los años 2014 y 2018. La frecuencia significativa de animales portadores en Uruguay evidencia la necesidad de implementar estrategias que permitan eliminar gradualmente el defecto de la población.

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Abstract Brachyspina syndrome is a hereditary recessive disease of recent identification in the Holstein breed. It is caused by a deletion of 3.3Kb in the FANCI gene located in the bovine chromosome 21. The mutation was identified in Holstein populations of Europe, North America and Asia. Given the economic importance of the defect and its wide distribution, the objective of this work was the identification of carrier animals in the genetic selection nucleus of the breed in Uruguay and the molecular verification of the deleterious allele in animals of the national herd. In the present study, 2598 records of Holstein bulls were analyzed from the list of parents of the dairy genetic evaluation system, records of bulls belonging to the Holstein semen catalogs available for Uruguay from 2014 to 2018; and 71 cows belonging to the general herd. Twenty-eight brachyspina carrier bulls were found of a total of 377 bulls with genetic information from the list of parents and four carrier cows of a total of 71 genotyped in our laboratory. A decrease in the income of semen from carrier animals to the country between 2014 and 2018 was demonstrated. The significant frequency of carrier animals in Uruguay evidences the need to implement strategies to gradually eliminate the population defect.

RESUMEN

BACKGROUND: Speckle tracking echocardiography (STE) allows for the study of myocardial strain (ε), a marker of early and subclinical ventricular systolic dysfunction. Cardiac disease may be present in patients with acromegaly; however, STE has never been used to evaluate these patients. OBJECTIVE: To evaluate left ventricular (LV) global longitudinal strain in patients with active acromegaly with normal LV systolic function. DESIGN: Cross-sectional clinical study. METHODS: Patients with active acromegaly with no detectable heart disease and a control group were matched for age, gender, arterial hypertension and diabetes mellitus underwent STE. Global LV longitudinal ε (GLS), left ventricular mass index (LVMi), left ventricular ejection fraction (LVEF) and relative wall thickness (RWT) were obtained via two-dimensional (2D) echocardiography using STE. RESULTS: Thirty-seven patients with active acromegaly (mean age 45.6 ± 13.8; 48.6% were males) and 48 controls were included. The mean GLS was not significantly different between the acromegaly group and the control group (in %, -20.1 ± 3.1 vs. -19.4 ± 2.2, p = 0.256). Mean LVMi was increased in the acromegaly group (in g/m2, 101.6 ± 27.1 vs. 73.2 ± 18.6, p < 0.01). There was a negative correlation between LVMi and GLS (r = -0.39, p = 0.01). CONCLUSIONS: Acromegaly patients, despite presenting with a higher LVMi when analyzed by 2D echocardiography, did not present with impairment in the strain when compared to a control group; this finding indicates a low chance of evolution to systolic dysfunction and agrees with recent studies that show a lower frequency of cardiac disease in these patients.

Asunto(s)

Acromegalia/diagnóstico por imagen , Acromegalia/diagnóstico , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/patología , Acromegalia/fisiopatología , Adulto , Estudios Transversales , Ecocardiografía , Femenino , Ventrículos Cardíacos/fisiopatología , Humanos , Hipertensión/fisiopatología , Masculino , Persona de Mediana Edad

RESUMEN

Selective intensification of platelet inhibition may improve high on treatment platelet reactivity (HPR). We evaluated the efficacy of dual-antiplatelet therapy, including clopidogrel (CPG), compared to new P2Y12-receptor antagonists in patients with HPR undergoing percutaneous coronary intervention, regarding the outcome of composite major adverse cardiac events (MACEs, including death, acute coronary syndrome [ACS], and stent restenosis). The presence of HPR (71 of 181 patients) almost doubled the risk of MACEs. The new antiplatelet agent reduced MACEs (45.8%, 26%, and 16.7% for CPG, prasugrel, and ticagrelor [TGL]; RR 0.36; 0.13-0.98, P = .03, TGL), specifically in patients with ACS. Failure to reduce HPR after the antiplatelet change and diabetes were independent predictors for MACEs. The HPR was early and effectively reduced after changing the antiplatelet therapy, but the intensity of this reduction did not significantly decrease the risk of MACEs. These findings support the benefit of HPR-guided intensification of platelet inhibition. Whether the intensity of this reduction improves the patient's clinical outcomes deserves further investigation.

Asunto(s)

Cardiopatías/prevención & control , Intervención Coronaria Percutánea/efectos adversos , Clorhidrato de Prasugrel/administración & dosificación , Receptores Purinérgicos P2Y12 , Ticlopidina/análogos & derivados , Anciano , Clopidogrel , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ticlopidina/administración & dosificación

RESUMEN

This paper aims to evaluate the efficiency of three inactive vaccines against contagious agalactia prepared with samples of Mycoplasma agalactiae isolated in Brazil and different adjuvants. Vaccine 1 adsorbed with aluminum hydroxide was administered in 23 goats (Gc1) and 13 sheep (Gov1); vaccine 2 containing Montanide IMS-2215-VG was administered in 22 goats (Gc2) and 12 sheep (Gov2) and vaccine 3, containing Montanide Gel-01 was administered in 22 goats (Gc3) and 12 sheep (Gov3). All animals were negative for Ma at indirect ELISA and received two doses of 2mL each, subcutaneously, within a 21 day interval. Five animals from each species were used as control. Seventy-five days after the booster, four animals from each vaccinated group and two from the control group were challenged with 5mL of Ma culture containing 10(7)cfu/mL, orally and through immersion of the female's udder in lactation. The serological response was analyzed during vaccination days (0 and 21) and at 51, 81, 111, 141 and 171 days after vaccination. The collection and analysis of the challenged animals were conducted at the day of the challenge (D0) and 7, 14, 21, 28, 35, 42, 49 and 56 days after the challenge. The three vaccines induced the production of antibodies, having no significant statistical difference (p<0.05). Animals from groups Gc1, Gc2 and Gov2 developed higher levels of antibodies, with significant statistical difference compared to the other vaccinated group and control group (p<0.05). After the challenge, the animals from the control presented an increase in regional lymph nodes and conjunctivitis, mastitis and arthritis. In four vaccinated animals, discrete conjunctivitis and congestion of the episcleral veins was observed. It is concluded that vaccines 1 and 2 induced levels of protective antibodies in goats and sheep, sufficient for clinical protection of the animals submitted to the experimental infection, indicating its use on the prevention of contagious agalactia.

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Este trabalho tem como objetivo avaliar a eficácia de três vacinas inativadas contra agalaxia contagiosa, preparadas com amostra de Mycoplasma agalactiae isolada no Brasil e diferentes adjuvantes. A vacina 1, adsorvida com hidróxido de alumínio, foi administrada em 23 caprinos (Gc1) e 13 ovinos (Gov1); a vacina 2, contendo Montanide IMS-2215-VG, foi administrada em 22 caprinos (Gc2) e 12 ovinos (Gov2); e a vacina 3, contendo Montanide Gel-01 foi administrada em 22 caprinos (Gc3) e 12 ovinos (Gov3). Todos os animais eram negativos para Ma no ELISA indireto e receberam duas doses de 2mL cada, por via subcutânea, com intervalo de 21 dias. Cinco animais de cada espécie foram utilizados como controle. Setenta e cinco dias após o reforço, quatro animais de cada grupo vacinado e dois do grupo controle foram desafiados com 5mL de cultura de Ma contendo 10(7)ufc/mL, por via oral e pela imersão dos tetos das fêmeas em lactação. A resposta sorológica foi analisada nos dias da vacinação (zero e 21) e aos 51, 81, 111, 141 e 171 dias pós-vacinação. As coletas e análises dos animais desafiados foram realizadas no dia do desafio (D0) e sete, 14, 21, 28, 35, 42, 49 e 56 dias pós-desafio. As três vacinas induziram produção de anticorpos, não havendo diferença estatisticamente significativa entre caprinos e ovinos (P>0,05). Animais dos grupos Gc1, Gc2 e Gov2 produziram níveis de anticorpos mais elevados, com diferença estatisticamente significativa em relação aos demais grupos vacinados e ao grupo controle (P<0,05). Após o desafio, os animais do grupo controle apresentaram aumento de linfonodos regionais e conjuntivite, mastite e artrite. Em quatro animais vacinados, foi observada discreta conjuntivite e congestão dos vasos episclerais. Conclui-se que as vacinas 1 e 2 induziram níveis de anticorpos protetores em caprinos e ovinos suficientes para proteção clínica dos animais submetidos à infecção experimental, podendo ser indicadas para prevenção da agalaxia contagiosa.

Asunto(s)

Animales , Mycoplasma agalactiae , Mycoplasma agalactiae/química , Vacunas/administración & dosificación , Vacunas/análisis , Vacunas/efectos adversos , Ensayo de Inmunoadsorción Enzimática/efectos adversos , Ensayo de Inmunoadsorción Enzimática/veterinaria

RESUMEN

This paper aims to evaluate the efficiency of three inactive vaccines against contagious agalactia prepared with samples of Mycoplasma agalactiae isolated in Brazil and different adjuvants. Vaccine 1 adsorbed with aluminum hydroxide was administered in 23 goats (Gc1) and 13 sheep (Gov1); vaccine 2 containing Montanide IMS-2215-VG was administered in 22 goats (Gc2) and 12 sheep (Gov2) and vaccine 3, containing Montanide Gel-01 was administered in 22 goats (Gc3) and 12 sheep (Gov3). All animals were negative for Ma at indirect ELISA and received two doses of 2mL each, subcutaneously, within a 21 day interval. Five animals from each species were used as control. Seventy-five days after the booster, four animals from each vaccinated group and two from the control group were challenged with 5mL of Ma culture containing 10(7)cfu/mL, orally and through immersion of the female's udder in lactation. The serological response was analyzed during vaccination days (0 and 21) and at 51, 81, 111, 141 and 171 days after vaccination. The collection and analysis of the challenged animals were conducted at the day of the challenge (D0) and 7, 14, 21, 28, 35, 42, 49 and 56 days after the challenge. The three vaccines induced the production of antibodies, having no significant statistical difference (p<0.05). Animals from groups Gc1, Gc2 and Gov2 developed higher levels of antibodies, with significant statistical difference compared to the other vaccinated group and control group (p<0.05). After the challenge, the animals from the control presented an increase in regional lymph nodes and conjunctivitis, mastitis and arthritis. In four vaccinated animals, discrete conjunctivitis and congestion of the episcleral veins was observed. It is concluded that vaccines 1 and 2 induced levels of protective antibodies in goats and sheep, sufficient for clinical protection of the animals submitted to the experimental infection, indicating its use on the prevention of contagious agalactia.(AU)

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Este trabalho tem como objetivo avaliar a eficácia de três vacinas inativadas contra agalaxia contagiosa, preparadas com amostra de Mycoplasma agalactiae isolada no Brasil e diferentes adjuvantes. A vacina 1, adsorvida com hidróxido de alumínio, foi administrada em 23 caprinos (Gc1) e 13 ovinos (Gov1); a vacina 2, contendo Montanide IMS-2215-VG, foi administrada em 22 caprinos (Gc2) e 12 ovinos (Gov2); e a vacina 3, contendo Montanide Gel-01 foi administrada em 22 caprinos (Gc3) e 12 ovinos (Gov3). Todos os animais eram negativos para Ma no ELISA indireto e receberam duas doses de 2mL cada, por via subcutânea, com intervalo de 21 dias. Cinco animais de cada espécie foram utilizados como controle. Setenta e cinco dias após o reforço, quatro animais de cada grupo vacinado e dois do grupo controle foram desafiados com 5mL de cultura de Ma contendo 10(7)ufc/mL, por via oral e pela imersão dos tetos das fêmeas em lactação. A resposta sorológica foi analisada nos dias da vacinação (zero e 21) e aos 51, 81, 111, 141 e 171 dias pós-vacinação. As coletas e análises dos animais desafiados foram realizadas no dia do desafio (D0) e sete, 14, 21, 28, 35, 42, 49 e 56 dias pós-desafio. As três vacinas induziram produção de anticorpos, não havendo diferença estatisticamente significativa entre caprinos e ovinos (P>0,05). Animais dos grupos Gc1, Gc2 e Gov2 produziram níveis de anticorpos mais elevados, com diferença estatisticamente significativa em relação aos demais grupos vacinados e ao grupo controle (P<0,05). Após o desafio, os animais do grupo controle apresentaram aumento de linfonodos regionais e conjuntivite, mastite e artrite. Em quatro animais vacinados, foi observada discreta conjuntivite e congestão dos vasos episclerais. Conclui-se que as vacinas 1 e 2 induziram níveis de anticorpos protetores em caprinos e ovinos suficientes para proteção clínica dos animais submetidos à infecção experimental, podendo ser indicadas para prevenção da agalaxia contagiosa.(AU)

Asunto(s)

Animales , Vacunas/administración & dosificación , Vacunas/efectos adversos , Vacunas/análisis , Mycoplasma agalactiae/química , Mycoplasma agalactiae , Ensayo de Inmunoadsorción Enzimática/efectos adversos , Ensayo de Inmunoadsorción Enzimática/veterinaria

RESUMEN

Phytoestrogens are non steroidal compounds that can bind to estrogen receptors, mimicking some effects of estradiol (E(2)). These compounds are widespread among legumes, which are used as pasture, and their importance in animal agriculture has increased. Mesquite (Prosopis sp) is a widespread legume, widely used to feed several livestock species in Mexico. The main product of mesquite is the pod, which is considered high quality food. As a legume, it could be assumed that mesquite contains some amounts of phytoestrogens which might induce potential estrogenic effects. However, to our knowledge, there are no reports regarding the possible estrogenic activity of this legume either in livestock or in animal models such as the rat. Therefore, in this study, we evaluated the potential estrogenic effects of mesquite pod extract on several aspects of behavior and reproductive physiology of the female rat. The effects of the extract were compared with those of E(2) and two isoflavones: daidzein (DAI) and genistein (GEN). The following treatments were given to groups of intact and ovariectomized (OVX) female rats: vehicle; mesquite pod extract; E(2); GEN; DAI. Compared to vehicle groups, mesquite pod extract, DAI, GEN, and E(2) increased uterine weight and induced growth in vaginal and uterine epithelia. In intact rats, mesquite pod extract, GEN and DAI altered estrous cyclicity, decreased lordotic quotient and intensity of lordosis. In OVX rats, mesquite pod extract, DAI and GEN induced vaginal estrus, increased vaginal epithelium height, and induced lordosis, although its intensity was reduced, compared with intact rats in estrus and E2-treated rats. These results suggest that mesquite pod extract could have estrogenic activity. However, the presence of phytoestrogens in this legume remains to be confirmed.

Asunto(s)

Fitoestrógenos/farmacología , Prosopis/fisiología , Reproducción/efectos de los fármacos , Conducta Sexual Animal/efectos de los fármacos , Animales , Epitelio/efectos de los fármacos , Estradiol/farmacología , Ciclo Estral/efectos de los fármacos , Femenino , Genisteína/farmacología , Isoflavonas/farmacología , Tamaño de los Órganos/efectos de los fármacos , Ovariectomía , Extractos Vegetales/farmacología , Ratas , Ratas Wistar , Semillas/química , Útero/efectos de los fármacos , Útero/crecimiento & desarrollo , Vagina/citología , Vagina/efectos de los fármacos

RESUMEN

BACKGROUND: Conflicting data exist on the effects of GH replacement therapy (GHRT) on thyroid function and thyroid volume (TV) in GH-deficient (GHD) patients. AIM: The aim of this study was to assess the effects of GHRT on thyroid function and TV in adults with congenital lifetime isolated GHD (IGHD). SUBJECTS AND METHODS: We studied 20 GH-naïve adults with IGHD due to a homozygous mutation of the GHRH-receptor gene at baseline, after 6-month depot- GH replacement therapy (pGH), and 6-month washout (6mo). Total T(3), free T(4) (FT(4)), reverse T(3) (rT(3)), TSH, IGF-I, SHBG, and TV were measured; body surface area-corrected TV (CTV) was calculated. RESULTS: IGF-I and T(3) increased pGH. T(3) levels remained elevated at 6mo. GHRT did not significantly change FT(4), rT(3), TSH, and SHBG. TV and CTV increased pGH and remained elevated at 6mo. CONCLUSIONS: GHRT in IGHD adults caused an increase in serum T(3) levels and TV, suggesting an important role of the GH-IGF-I axis in thyroid function.

Asunto(s)

Terapia de Reemplazo de Hormonas/métodos , Hormona de Crecimiento Humana/deficiencia , Hormona de Crecimiento Humana/uso terapéutico , Glándula Tiroides/efectos de los fármacos , Glándula Tiroides/fisiología , Adulto , Femenino , Homocigoto , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Masculino , Persona de Mediana Edad , Receptores de Neuropéptido/genética , Receptores de Hormona Reguladora de Hormona Hipofisaria/genética , Globulina de Unión a Hormona Sexual/metabolismo , Glándula Tiroides/anatomía & histología , Tirotropina/sangre , Tiroxina/sangre , Resultado del Tratamiento , Triyodotironina/sangre

RESUMEN

This study aimed to evaluate the quality of stirred-type skim milk probiotic yogurt fortified by partially replacing skim milk powder (SMP) with whey protein concentrate (WPC) and sodium caseinate (Na-CN) during cold storage for 28 d compared with nonfortified yogurt. The rheological properties (as measured using dynamic oscillation) and sensory profiles of probiotic yogurts were greatly enhanced when SMP (i.e., 45%) was replaced with WPC and Na-CN. Higher values of mechanical parameters related to storage and loss modulus and consistent microstructure were found in the fortified yogurts. The acidification profile was not affected by supplementation of the solids in the milk base, and the viable counts of probiotic microbiota were high and satisfactory. These positive characteristics of probiotic yogurts were maintained until the end of the storage period. The microstructure of the fortified yogurt showed some differences compared with the nonfortified product, which were due to changes in chemical composition of the milk base in addition to the colloidal characteristics of the product.

Asunto(s)

Frío , Manipulación de Alimentos , Probióticos , Yogur/análisis , Yogur/normas , Animales , Carga Bacteriana , Caseínas/química , Productos Lácteos/análisis , Humanos , Concentración de Iones de Hidrógeno , Microscopía Electrónica de Rastreo , Leche/química , Proteínas de la Leche/química , Polvos/análisis , Reología , Gusto , Factores de Tiempo , Proteína de Suero de Leche , Yogur/microbiología

RESUMEN

O artigo não apresenta resumo.

RESUMEN

O artigo não apresenta resumo.

RESUMEN

In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the propositas mother (II-2) was homozygous for the minor allele at each marker (T2 and X2), however, the proposita and one sister carried only the major allele, which was inherited from the father. These results suggested that a deletion involving both markers could be present, and was inherited from the mother to both daughters. Quantitative multiplex PCR confirmed the deletion in female carriers, involving at least exons 12 to 17. DNA studies of cultured amniotic fluid cells at 14 weeks gestation, by amplification of specific Y-chromosome sequences, followed by multiplex PCR, lead to the diagnosis of a male fetus affected by DMD.

Asunto(s)

Heterocigoto , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Diagnóstico Prenatal , Adulto , Alelos , Líquido Amniótico/metabolismo , Densitometría , Distrofina/genética , Exones , Salud de la Familia , Femenino , Eliminación de Gen , Ligamiento Genético , Marcadores Genéticos , Homocigoto , Humanos , Masculino , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Embarazo , Procesos de Determinación del Sexo

RESUMEN

The fragile X syndrome (Fra-X) is the most common cause of inherited mental retardation with X-linked semi-dominant inheritance. The prevalence of Fra-X in the Mexican population is unknown. The aim of this population screening study was to determine if Fra-X or FRAXE mutations are the cause of a number of cases of mental retardation in a sample of Mexican children with mental retardation of unknown cause (MRUC) and to stress the importance of performing molecular analysis of the FMR-1 gene in all patients with MRUC. We report here the direct analysis of CGG and GCC repeats within the FMR-1 and FMR-2 genes, respectively, in 62 unrelated patients with MRUC. Two male index cases had the CGG expansion, although they did not express the Xq27.3 fragile site cytogenetically. Fra-X diagnosis was highly suspected on a clinical basis in one of the patients, but not in the other. Both mothers were found to be premutation carriers. The molecular studies of FMR-1 showed that the proportion of MRUC patients with Fra-X is 3.2%. This frequency was not significantly different to that reported in most populations. As reported in other series, no patients with FRAXE were found in our sample. Our findings confirm that the molecular analysis of the FMR-1 gene is necessary in MRUC patients to achieve unequivocal diagnosis of fragile X syndrome, carrier premutation detection and for accurate genetic counseling.

Asunto(s)

ADN/sangre , Síndrome del Cromosoma X Frágil/diagnóstico , Discapacidad Intelectual/genética , Proteínas del Tejido Nervioso/genética , Proteínas de Unión al ARN , Niño , Preescolar , ADN/genética , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Síndrome del Cromosoma X Frágil/epidemiología , Síndrome del Cromosoma X Frágil/genética , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Masculino , México , Prevalencia , Caracteres Sexuales

RESUMEN

Measurement of the insulin-like growth factors (IGFs) and their binding proteins has become commonplace in the indirect assessment of the integrity of the GH axis. However, the relative effect of GH deficiency (GHD) on each component of the IGF axis and the merit of any one parameter as a diagnostic test have not been defined in a homogeneous population across all ages. We therefore measured IGF-I, IGF-II, IGF-binding protein-1 (IGFBP-1), IGFBP-2, IGFBP-3, and acid labile subunit (ALS) in 27 GHD subjects (aged 5-82 yr) from an extended kindred in Northeast Brazil with an identical GHRH receptor mutation and in 55 indigenous controls (aged 5-80 yr). The effect of GHD on the theoretical distribution of IGFs between the IGFBPs and the ternary complex was also examined. All components of the IGF axis, measured and theoretical, showed complete separation between GHD and control subjects, except IGFBP-1 and IGFBP-2 concentrations, which did not differ. The most profound effects of GHD were on total IGF-I, IGF-I in the ternary complex, and ALS. The proportion of IGF-I associated with IGFBP-3 remained constant throughout life, but was significantly lower in GHD due to an increase in IGF-I/IGFBP-2 complexes. IGF-I in the ternary complex was determined principally by concentrations of ALS in GHD and IGFBP-3 in controls, implying that ALS has greater GH dependency. In the controls, IGF-II was associated primarily with IGFBP-3 and to a lesser extent with IGFBP-2, whereas in GHD the reverse was found. There was also a dramatic decline in the proportion of free ALS in GHD adults that was not evident in controls. As diagnostic tests, IGF-I in the ternary complex and total IGF-I provided the greatest separation between GHD and controls in childhood. Similarly, in older adults the best separation was achieved with IGF-I in the ternary complex, with free ALS being optimal in younger adults. Severe GHD not only reduces the amounts of IGFs, IGFBP-3, and ALS, but also modifies the distribution of the IGFs bound to each IGFBP. Diagnostic tests used in the investigation of GHD should be tailored to the age of the individual. In particular, measurement of IGF-I in the ternary complex may prove useful in the diagnosis of GHD in children and older adults, whereas free ALS may be more relevant to younger adults.

Asunto(s)

Hormona de Crecimiento Humana/deficiencia , Proteínas de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Factor II del Crecimiento Similar a la Insulina/metabolismo , Factor I del Crecimiento Similar a la Insulina/metabolismo , Mutación , Receptores de Neuropéptido/genética , Receptores de Hormona Reguladora de Hormona Hipofisaria/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Proteína 1 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Proteína 2 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Masculino , Persona de Mediana Edad

RESUMEN

Duchenne muscular dystrophy (DMD) is the most common lethal hereditary neuromuscular disease. As there is no effective treatment, accurate carrier detection is essential for genetic counseling and prevention. Although linkage analysis has been widely used for this purpose, being an indirect analysis it has several limitations. Using linkage analysis for carrier detection, we found serious limitations, mainly because 82.9% of all proposita were isolated cases. We used quantitative polymerase chain reaction for direct carrier detection in families with exon deletions and found a higher than expected frequency of de novo deletions (62.2%). Furthermore, only 20.7% of the mothers of isolated deletion DMD/Becker muscular dystrophy (BMD) patients were found to be carriers. This result suggests that the Mexican population has a high frequency of de novo DMD mutations.

Asunto(s)

Asesoramiento Genético , Distrofias Musculares/genética , Eliminación de Secuencia , Creatina Quinasa/sangre , Femenino , Tamización de Portadores Genéticos , Ligamiento Genético , Humanos , Masculino , México , Distrofias Musculares/etnología , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción

Asunto(s)

Enfermedad Coronaria/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Pravastatina/uso terapéutico , Femenino , Humanos , Hipercolesterolemia/tratamiento farmacológico , Masculino

Asunto(s)

Humanos , Femenino , Embarazo , Adolescente , Adulto , Planificación Familiar/estadística & datos numéricos , Planificación Familiar/tendencias , Servicios de Salud Materna , Indicadores de Salud

Asunto(s)

Humanos , Femenino , Embarazo , Adolescente , Adulto , Indicadores de Salud , Servicios de Salud Materna , Planificación Familiar/estadística & datos numéricos , Planificación Familiar/tendencias

RESUMEN

Foram utilizadas 43 peças de cäes sem raça definida, sendo 30 delas dissecadas e as 13 restantes submetidas a processo de corrosäo. As artérias da base do encéfalo estudadas estäo na dependência de duas grandes fontes principais representadas, uma delas pela artéria basilar (sistema vértebro-basilar) e, a outra, pelas artérias carótidas internas esquerda e direita (sistema carótico); considerou-se, ainda, a possibilidade de ocorrência de fonte auxiliar, representada pelas anastomoses existentes entre a artéria maxilar e a artéria carótida interna. A particular disposiçäo dos ramos das artérias carótidas internas e dos ramos terminais da artéria basilar determina formaçäo de um circuito arterial do encéfalo que, a partir da divisäo da artéria carótida interna, de ambos os lados, em seus ramos terminais, rostral e caudal, apresenta-se rostralmente de modo invariável, em pequeno arco ou ferradura de concavidade caudal; caudalmente de forma variada, constitui figura piriforme (56,6 por cento) ou poligonal (43,4 por cento) constituída, rostralmente, pelas artérias cerebrais rostrais esquerda e direita, lateralmente, pelos ramos rostral e caudal das artérias carótidas internas esquerda e direita e, caudolateralmente, pelos ramos terminais (à esquerda e à direita) da artéria basilar. O padräo vascular da artérias da base do encéfalo dos cäes estudados situa-se entre os tipos 2alfa e 2beta, referidos por De Vriese3 (1905) e entre os estágios médio e final de seu desenvolvimento filogenético, considerado por Testut13 (1911)

Asunto(s)

Animales , Arterias Cerebrales/anatomía & histología , Perros/anatomía & histología