RESUMO
This study examined the variation in salivary nitric oxide (NO), alpha-amylase (sAA) and serum markers of muscle injury during 21 weeks of training in elite swimmers. Samples of saliva and blood were collected once a month during 5 months from 11 male professional athletes during their regular training season. The variation in each marker throughout the 21 weeks was compared with the dynamics of training volume, intensity and load. Unstimulated whole saliva was assessed for NO and sAA whereas venous blood was assessed for lactate dehydrogenase, creatine kinase, and γ-glutamyltransferase. Nitric oxide and sAA showed a proportional response to the intensity of training. However, whereas the concentration of NO increased across the 21 weeks, the activity of sAA decreased. Similar variations in the concentration of NO and the markers of muscle injury were also observed. The higher concentration of NO might be attributed to changes in haemodynamics and muscle regenerative processes. On the other hand, autonomic regulation towards parasympathetic predominance might have been responsible for the decrease in sAA activity. These findings provide appealing evidence for the utilization of salivary constituents in sports medicine to monitor training programmes.
Assuntos
Óxido Nítrico/metabolismo , Saliva/química , alfa-Amilases Salivares/metabolismo , Natação/fisiologia , Atletas , Biomarcadores/metabolismo , Creatina Quinase/sangue , Humanos , L-Lactato Desidrogenase/sangue , Masculino , Adulto Jovem , gama-Glutamiltransferase/sangueRESUMO
We investigated the response of salivary total protein (TP), alpha-amylase (sAA) and chromogranin A (CgA) to sporting competition and their relation with positive and negative affect. 11 professional swimmers were examined during the first day of a national contest and on a recreated event that matched time-of-the-day and day-of-the-week assessments 2 weeks later. Total protein was determined by the Bradford method and sAA and CgA by Western blotting upon awakening, 30 and 60 min post awakening, immediately before warming up for competition and 5, 20 and 60 min after competition. Psychometric instruments included the Positive Affect and Negative Affect Schedule-X. The concentrations of TP, sAA and CgA differed from controls only prior to and 5 min after the event. We observed positive correlations between higher negative affect scores with higher levels of TP, sAA and CgA prior to the event on the competition day. All 3 markers showed a similar reactivity to sporting competition, which may be attributed to the mechanisms responsible for protein secretion into saliva when collection is performed with no exogenous stimulation. TP is an attractive marker in sports psychology since its determination is faster and cheaper than traditional kinetic or immune assays.
Assuntos
Desempenho Atlético/fisiologia , Saliva/metabolismo , Natação/fisiologia , Atletas , Sistema Nervoso Autônomo/fisiologia , Biomarcadores/metabolismo , Western Blotting , Cromogranina A/metabolismo , Humanos , Masculino , Proteínas/metabolismo , Fatores de Tempo , Adulto Jovem , alfa-Amilases/metabolismoRESUMO
INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with a subcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders. AIM: To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to non-carriers belonging to Colombian families with CADASIL. SUBJECTS AND METHODS: The study followed a longitudinal, retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval. RESULTS: There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, but only in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation. CONCLUSIONS: No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years' follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation.
Assuntos
CADASIL/psicologia , Transtornos Cognitivos/etiologia , Adulto , CADASIL/epidemiologia , CADASIL/genética , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Colômbia/epidemiologia , Progressão da Doença , Feminino , Seguimentos , Genes Dominantes , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Exame Neurológico , Testes Neuropsicológicos , Mutação Puntual , Receptor Notch3 , Receptores Notch/genética , Estudos RetrospectivosRESUMO
La arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL)es una enfermedad hereditaria, afecta a pequeños vasos y se presenta con episodios vasculares, trastornos neuropsiquiátricos, migraña y deterioro cognitivo. La alteración cognitiva varía de acuerdo con el tiempo de evolución de la enfermedad; obedece a un cuadro de origen subcortical relacionado con disfunción ejecutiva, lentificación, afectación atencional y alteraciones de la memoria. Objetivo. Definir las características cognitivas en dos evaluaciones neuropsicológicas de portadores de mutaciones del gen Notch3 comparados con no portadores pertenecientes a familias colombianas con CADASIL. Sujetos y métodos. Diseño longitudinal, retrospectivo, con 140 participantes, portadores y no portadores de la mutación. Se analizó el rendimiento cognitivo comparando la primera y la última evaluación neuropsicológica efectuada a cada sujeto en un intervalode cuatro años. Resultados. Se presentaron diferencias estadísticamente significativas (p < 0,05) entre ambos grupos en la última evaluación, sólo en algunas pruebas. En portadores y no portadores no se encontraron cambios significativos entre la primera y la última evaluación. Conclusiones. No se encontraron diferencias entre ambos grupos en las dos evaluaciones. No se observa deterioro cognitivo con el paso del tiempo en los portadores, probablemente debido a que la mayoría eran sujetosasintomáticos y jóvenes. Se piensa que cuatro años de seguimiento no es tiempo suficiente para observar una progresión significativa en la alteración de las funciones cognitivas en portadores de mutaciones del gen Notch3 causante de CADASIL, o que la evaluación neuropsicológica requiere de herramientas cognitivas más sensibles
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with asubcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders. Aim. To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to noncarriersbelonging to Colombian families with CADASIL. Subjects and methods. The study followed a longitudinal,retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval. Results. There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, butonly in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation.Conclusions. No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation
Assuntos
Humanos , Transtornos Cerebrovasculares/complicações , Transtornos Cognitivos/epidemiologia , Demência Vascular/complicações , Artérias Cerebrais/anormalidades , Infarto Cerebral/complicações , Mutação , Testes NeuropsicológicosRESUMO
Se presentan dos pacientes de 21 y 26 años de edad con cutis verticis gyrata. No se encontraron en ellos enfermedades subyacentes y el examen histopatológico no mostró alteraciones relevantes. Por lo tanto los incluimos en el tipo de cutis verticis gyrata primario esencial.
Assuntos
Humanos , Masculino , Adulto , Couro Cabeludo , Anormalidades da Pele/terapiaRESUMO
Se presentan dos pacientes de 21 y 26 años de edad con cutis verticis gyrata. No se encontraron en ellos enfermedades subyacentes y el examen histopatológico no mostró alteraciones relevantes. Por lo tanto los incluimos en el tipo de cutis verticis gyrata primario esencial.(AU)
Assuntos
Humanos , Masculino , Adulto , Couro Cabeludo/anormalidades , Anormalidades da Pele/terapiaRESUMO
The association of recessive X-linked ichthyosis (RXLI) and hypertrophic pyloric stenosis (HPS) has been considered to be due to a probable contiguous gene defect. However, there are several reports of patients with large deletions on both sides of the steroid sulphatase gene (responsible for RXL1) that show no signs of HPS. We report the third pedigree wherein RXL1 was associated with HPS. Apart from the proband, both diseases showed themselves as independent events in the family tree with ichthyosis present in two other individuals and HPS in three other relatives. We calculated the probability that both diseases occurred simultaneously in the index case as a chance occurrence as 1 : 40 (using the Independence principle of probability). We conclude that in our pedigree it is likely that these two rare diseases show an accidental and not a true genetic association.
Assuntos
Ictiose Ligada ao Cromossomo X/genética , Estenose Pilórica/genética , Criança , Genes Recessivos/genética , Humanos , Hipertrofia , Ictiose Ligada ao Cromossomo X/complicações , Masculino , Linhagem , Probabilidade , Estenose Pilórica/complicaçõesRESUMO
resentamos una paciente de 32 años de edad, con el síndrome de las uñas verdes. Destacamos los aspectos clínicos y etiopatogénicos de esta entidad y efectuamos una revisión de la bibliografía existente
Assuntos
Humanos , Feminino , Adulto , Revisão , Unhas/patologia , Griseofulvina/uso terapêuticoRESUMO
resentamos una paciente de 32 años de edad, con el síndrome de las uñas verdes. Destacamos los aspectos clínicos y etiopatogénicos de esta entidad y efectuamos una revisión de la bibliografía existente(AU)
Assuntos
Humanos , Feminino , Adulto , Unhas/patologia , Revisão , Griseofulvina/uso terapêuticoRESUMO
Presentamos una familia con paquioniquia congénita tipo II o síndrome de Jackson-Sertoli, caracterizado por distrofia ungueal, dientes natales y quistes cutáneos múltiples. El estudio histopatológico de un quiste extirpado al propositus, reveló en la pared, aspectos histológicos del tipo epidérmico, triquilemal y de glándula cebácea, condición híbrida poropia de las lesiones hamartomatosas. Estos hallazgos histológicos no han sido descriptos en la bibliografía consultada.
Assuntos
Humanos , Displasia Ectodérmica/diagnóstico , Cisto Epidérmico/cirurgia , Cisto Epidérmico/congênito , Extremidades/patologia , Dentes Natais , Língua/patologiaRESUMO
Presentamos una familia con paquioniquia congénita tipo II o síndrome de Jackson-Sertoli, caracterizado por distrofia ungueal, dientes natales y quistes cutáneos múltiples. El estudio histopatológico de un quiste extirpado al propositus, reveló en la pared, aspectos histológicos del tipo epidérmico, triquilemal y de glándula cebácea, condición híbrida poropia de las lesiones hamartomatosas. Estos hallazgos histológicos no han sido descriptos en la bibliografía consultada. (AU)
Assuntos
Humanos , Displasia Ectodérmica/diagnóstico , Cisto Epidérmico/cirurgia , Cisto Epidérmico/congênito , Língua/patologia , Dentes Natais , Extremidades/patologiaRESUMO
Presentamos una niña de 7 años de edad, con un liquen estriado en el miembro superior derecho acompañado de onicodistrofia del pulgar. La alteración ungueal, previa al rash cutáneo, mejoró espontáneamente en el curso de tres años(AU)
Assuntos
Humanos , Feminino , Dermatoses da Mão/complicações , Doenças da Unha/complicações , Polegar/patologia , ParaceratoseRESUMO
Presentamos una niña de 7 años de edad, con un liquen estriado en el miembro superior derecho acompañado de onicodistrofia del pulgar. La alteración ungueal, previa al rash cutáneo, mejoró espontáneamente en el curso de tres años
Assuntos
Humanos , Feminino , Doenças da Unha/complicações , Dermatoses da Mão/complicações , Polegar/patologia , ParaceratoseRESUMO
Presentamos una familia con el cuadro clínico-histopatológico de acropigmentación reticular de Kitamura,en la cual se observó un modo de herencia autosómica dominante. La fenotipificación HLA no mostró la segregación de ningún haplotipo en particular. Efectuamos una revisión bibliografíca existente(AU)
Assuntos
Humanos , Dermatoses da Mão/genética , Diagnóstico Diferencial , Antígenos HLA/isolamento & purificaçãoRESUMO
Presentamos una familia con el cuadro clínico-histopatológico de acropigmentación reticular de Kitamura,en la cual se observó un modo de herencia autosómica dominante. La fenotipificación HLA no mostró la segregación de ningún haplotipo en particular. Efectuamos una revisión bibliografíca existente
