66 research outputs found
Adult cognitive outcomes in phenylketonuria:explaining causes of variability beyond average Phe levels
OBJECTIVE: The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (Phe average vs Phe variation) and by assessing the risk of cognitive impairment associated with adopting a more relaxed approach to the diet than is currently recommended. METHOD: We analysed associations between metabolic and cognitive measures in a mixed sample of English and Italian early-treated adults with PKU (N = 56). Metabolic measures were collected through childhood, adolescence and adulthood; cognitive measures were collected in adulthood. Metabolic measures included average Phe levels (average of median values for each year in a given period) and average Phe variations (average yearly standard deviations). Cognition was measured with IQ and a battery of cognitive tasks. RESULTS: Phe variation was as important, if not more important, than Phe average in predicting adult outcomes and contributed independently. Phe variation was particularly detrimental in childhood. Together, childhood Phe variation and adult Phe average predicted around 40% of the variation in cognitive scores. Poor cognitive scores (> 1 SD from controls) occurred almost exclusively in individuals with poor metabolic control and the risk of poor scores was about 30% higher in individuals with Phe values exceeding recommended thresholds. CONCLUSIONS: Our results provide support for current European guidelines (average Phe value = < 360 μmol/l in childhood; = < 600 μmo/l from 12 years onwards), but they suggest an additional recommendation to maintain stable levels (possibly Phe SD = < 180 μmol/l throughout life). PUBLIC SIGNIFICANCE STATEMENTS: We investigated the relationship between how well people with phenylketonuria control blood Phe throughout their life and their ability to carry out cognitive tasks in adulthood. We found that avoiding blood Phe peaks was as important if not more important that maintaining average low Phe levels. This was particularly essential in childhood. We also found that blood Phe levels above recommended European guidelines was associated with around 30% increase in the risk of poor cognitive outcomes
Maternal Programming of Sexual Behavior and Hypothalamic-Pituitary-Gonadal Function in the Female Rat
Variations in parental care predict the age of puberty, sexual activity in adolescence and the age at first pregnancy in humans. These findings parallel descriptions of maternal effects on phenotypic variation in reproductive function in other species. Despite the prevalence of such reports, little is known about potential biological mechanisms and this especially true for effects on female reproductive development. We examined the hypothesis that parental care might alter hypothalamic-pituitary-ovarian function and thus reproductive function in the female offspring of rat mothers that vary pup licking/grooming (LG) over the first week postpartum. As adults, the female offspring of Low LG mothers showed 1) increased sexual receptivity; 2) increased plasma levels of luteinizing hormone (LH) and progesterone at proestrus; 3) an increased positive-feedback effect of estradiol on both plasma LH levels and gonadotropin releasing-hormone (GnRH) expression in the medial preoptic region; and 4) increased estrogen receptor α (ERα) expression in the anterioventral paraventricular nucleus, a system that regulates GnRH. The results of a cross-fostering study provide evidence for a direct effect of postnatal maternal care as well as a possible prenatal influence. Indeed, we found evidence for increased fetal testosterone levels at embryonic day 20 in the female fetuses of High compared to Low LG mothers. Finally, the female offspring of Low LG mothers showed accelerated puberty compared to those of High LG mothers. These data suggest maternal effects in the rat on the development of neuroendocrine systems that regulate female sexual behaviour. Together with studies revealing a maternal effect on the maternal behavior of the female offspring, these findings suggest that maternal care can program alternative reproductive phenotypes in the rat through regionally-specific effects on ERα expression
The genetics of chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease caused by the interaction of genetic susceptibility and environmental influences. There is increasing evidence that genes link to disease pathogenesis and heterogeneity by causing variation in protease anti-protease systems, defence against oxidative stress and inflammation. The main methods of genomic research for complex disease traits are described, together with the genes implicated in COPD thus far, their roles in disease causation and the future for this area of investigation
Natural healers: a review of animal assisted therapy and activities as complementary treatment for chronic conditions Curadores naturales: una revisión de la terapia y actividades asistidas por animales como tratamiento complementar de enfermedades crónicas Curadores naturais: uma revisão da terapia e atividades assistidas por animais como tratamento complementar de doenças crônicas
The primary objective of this review is to synthesize the existing literature on the use of animal-assisted therapy and activity (AAT/A) as complementary treatment among people living with chronic disease and to discuss the possible application of this practice among children living with HIV. Relevant databases were searched between March 10 and April 11, 2011, using the words: animal assisted therapy or treatment and chronic conditions or diseases. Thirty-one articles were found and 18 followed the inclusion and exclusion criteria. Research suggests that AAT/A is effective for different patient profiles, particularly children. Interaction with dogs has been found to increase positive behaviors, such as sensitivity and focus, in children with social disabilities. Decreased levels of pain have also been reported among child patients as a result of AAT/A. More research should be done in the area of children living with chronic diseases that require strict adherence to treatment, such as HIV, and on AAT/A's prospective use as an educational tool to teach children about the importance of self-care for their medical conditions.<br>El objetivo de esta revisión fue describir la literatura existente sobre el uso de terapia y actividades asistidas por animales (AAT/A), como terapia coadyuvante en personas viviendo con enfermedades crónicas, y discutir la posible aplicación de esa práctica en niños que viven con SIDA. La información fue buscada en bancos de datos entre 10 de marzo y 11 de abril de 2011, usando las palabras: terapia asistida por animales o tratamiento y condiciones crónicas o enfermedades. Treinta y uno artÃculos fueron encontrados y 18 siguieron los criterios de inclusión y exclusión. La pesquisa sugiere que AAT/A es eficaz para pacientes con diferentes perfiles, especialmente para niños. Se descubrió que la interacción con perros incrementa comportamientos positivos como aumento de la sensibilidad y atención en los niños con deficiencia social. La reducción en los niveles de dolor también fue relatada en niños como resultado de la AAT/A. Más investigaciones deben ser hechas en el área de niños que viven con enfermedades crónicas que exigen adhesión rigurosa al tratamiento, tales como SIDA, y el uso prospectivo de la AAT/A como herramienta educacional para enseñar los niños sobre la importancia del autocuidado para sus condiciones médicas.<br>O objetivo desta revisão é descrever a literatura existente sobre o uso de terapia e atividades assistidas por animais (AAT/A) como terapia adjuvante em pessoas vivendo com doenças crônicas e discutir a possÃvel aplicação desta prática em crianças que vivem com HIV. A informação foi buscada em bancos de dados entre 10 de março e 11 de abril de 2011, usando as palavras: terapia assistida por animais ou tratamento e condições crônicas ou doenças. Trinta e um artigo foram encontrados e 18 seguiram os critérios de inclusão e exclusão. A pesquisa sugere que AAT/A é eficaz para pacientes com diferentes perfis, especialmente para crianças. Descobriu-se que a interação com cães incrementa comportamentos positivos como aumento da sensibilidade e atenção nas crianças com deficiência social. A redução nos nÃveis de dor também foi relatada em crianças como resultado da AAT/A. Mais pesquisas devem ser feitas na área de crianças que vivem com doenças crônicas que exigem adesão rigorosa ao tratamento, tais como HIV, e o uso prospectivo da AAT/A como uma ferramenta educacional para ensinar à s crianças sobre a importância do autocuidado para suas condições médicas
Bioassay of Environmental Exposure of Children to Polycyclic Aromatic Hydrocarbons Using 1-Hydroxypyrene
Strain-specific transmission in an outbreak of ESBL-producing Enterobacteriaceae in the hemato-oncology care unit: a cohort study
Burden of Infections Among Chronic Myeloid Leukemia Patients Receiving Dasatinib or Nilotinib: A Real-World Retrospective Healthcare Claims Study in the United States
X-linked agammaglobulinemia combined with juvenile idiopathic arthritis and invasive Klebsiella pneumoniae polyarticular septic arthritis
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