RESUMEN
The early introduction of a low phenylalanine (Phe) diet has been demonstrated to be the most successful treatment in subjects with phenylketonuria (PKU), especially for preventing severe cognitive and neurological damages. However, it still concerns that even if treated in the first months of life with supplements and following a diet, they can show slight scores below people without PKU in neuropsychological assignments. We investigated 20 adults with classical PKU aged 19-48 years (mean age 29 years) and 20 heathy controls matched by age, gender, and years of education. Patients and controls were assessed with an extended neuropsychological battery, as well as psychological aspects and quality of life, also the last Phe level result was obtained. Results showed that the most affected cognitive domains are processing speed, executive functioning, memory, and also theory of mind, but very well-preserved verbal fluency, language, and visuospatial functioning. In quality of life, some significant results were seen specially in anxiety of Phe levels, anxiety of Phe levels during pregnancy, guilt if poor adherence to supplements, and if dietary protein restriction not followed. No significant results were obtained for the psychological variables. In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.
Asunto(s)
Fenilcetonurias , Calidad de Vida , Humanos , Adulto , Fenilalanina , Cognición , Fenilcetonurias/metabolismo , Fenilcetonurias/psicología , Función EjecutivaRESUMEN
INTRODUCTION: Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge to provide a diagnosis and psychological treatment for affected children. METHOD: The main objective of this study was to describe a form of music therapy treatment applied to three children diagnosed with MPS III. The psychological variables were evaluated by an ad hoc observation recording template, and the physiological variables were measured with a digital meter before and after each session. The perception of the parents was also considered through a semi-structured interview. RESULTS: An improvement in the psychological variables was shown in all cases. Changes in the physiological variables were also noted, although they varied according to each child. The parents report some benefit of music therapy and they share difficulty in assessing the extent of benefits of the music therapy. DISCUSSION: Findings indicate that music therapy can be a useful form of treatment with multiple benefits for children with conditions such as MPS III or similar conditions. However, further research is needed in this area and in the development of specific ways of evaluating music therapy.
Asunto(s)
Mucopolisacaridosis III , Musicoterapia , Enfermedades Neurodegenerativas , Niño , Glicosaminoglicanos , Humanos , Mucopolisacaridosis III/diagnóstico , Mucopolisacaridosis III/terapia , Padres/psicologíaRESUMEN
Spirulina plantesis es una cyanobacteria cuya biomasa posee un alto contenido en proteínas, vitaminas y ácidos grasos que justifica su uso como suplemento en la dieta. El objetivo de este trabajo fue evaluar los efectos de la ingestión de S. platensis sobre el crecimiento, morfología y metabolismo en ratas Sprague-Dawley. 12 ratas hembras de 21 días de edad recibieron diarimente por sonda gástrica 2,0 ml de agua sin (control, N=6) o con 300mg S. platensis seca- pulverizada ( tratadas, N= 6), alimento comercial para roedores y agua ad libitum, durante 50 díaS. Los parámetros evaluados fueron: igesta de alimento comercial/día, peso corporal, ancho de cabeza, largo de la cola (semanalmente). Los animales fueron sacrificados, y se pesaron: hipófisis, hígado, riñones derecho e izquierdo, ciego, ovarios derecho e izquierdo, cuerpo uterino, páncreas, bazo y estómago. Se midio el ancho y largo de los pelos de la región externa de la oreja. La sangre se obtuvo por punción cardíaca; en elksuero se midieron, HDL, LDL y colesterol total, aspartato amino transferasa- GOT (AST), colinesterasa (ChE), y glutamil transferasa (y GT), fosfatasa alcalina, uremia, actividad de la enzima ALA-D y el contenido de pòrfirinas totales en hígado y pelos. Las ratas alimentadas con S. platensis no mostraron diferencias significativas en el crecimiento durante el tratamiento. Semanalmente, el peso corporal, ancho de cabeza y largo de cola no mostraron diferencias entre los tratamientos. El peso del ciego de los tratados (6,6583 +- 0,4209g) fue mayor (p<0,001) que los controles (5,0879 +- 0,9037g). No se observaron diferencias de peso en otros órganos. Los niveles de HDL, LDL y colesteroi total, GOT (AST), ChE, GT y uremia no mostraron diferencias entre tratadas y Control...