Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay.
Fetal development can be influenced by maternal environment in the peri-conceptional period. This study investigated the effect of maternal feed intake and psychological stress within the first 6 days after conception on embryo development and fetal growth. Superovulated ewes (nZ40) were artificially inseminated with semen from one ram. Ewes were then divided into four groups (nZ10): group 1 (control) was fed at maintenance level, group 2 (high) at 2! maintenance, and group 3 (low) at 0.5! maintenance on days 2-6 after conception. Group 4 (stress) was fed at maintenance level and then an intense physical and psychological stress challenge was applied for 1 h only on days 2 and 3 after conception. Embryos were recovered at day 6. A total of 113 transferable grade embryos were transferred singly into synchronized untreated recipients, while the remaining embryos (nZ165) were fixed and stained for cell counts. Post-conception maternal stress or feed intake did not alter the cell count or grade of day 6 embryos. Fetuses from the stress group had longer crown-rump lengths at day 30 and longer femur length at day 58. Fetuses from the stressed and high feed groups had greater abdominal circumferences at day 85. Subsequent birth weights were not significantly different. Ewes carrying lambs from the stress treatment had shorter gestation lengths. These results show that short-term perturbations of the post-conception maternal environment have measurable effects on fetal development and gestation length. IntroductionThe maternal environment in the peri-conceptional period can impact upon fetal or placental growth, gestation length, and postnatal health (Armitage et al. 2004, Fleming et al. 2004, McMillen & Robinson 2005, Oliver et al. 2007). This has important implications for human health. In commercial animal production, the notion that the animal's maximum production potential and health is affected by conditions during pregnancy creates an imperative to identify the critical time periods and mechanisms for fetal programming.Nutrient-restricted diets around the time of conception in sheep have been shown to affect fetal development and physiology. Diet restriction for 2-3 weeks prior to mating resulted in altered embryo morphology and increased embryonic trophectoderm cell numbers (Abecia et al. 1997, Nolan et al. 1998. Gestation length was reduced by a week in ewes as a result of severe nutrient restriction from 1 month prior to conception through to month 2 of gestation (Bloomfield et al. 2003). More moderate feed restriction from 60 days prior to through to 7 days after conception resulted in earlier hypothalamic-pituitary adrenal axis activation in twin but not singleton pregnancies (Edwards & McMillen 2002). Nutrient excess, via high feed intake from days 5 to 55 of gestation, reduced fetal cotyledon mass and lamb birth weight (Wallace et al. 2003). In gilts fed 2! maintenance from the day after conception for 2 weeks, higher embryonic losses were associated with lower maternal serum progesterone (Jindal ...
We examined ontogenetic differences in the expression of conditioned visual aversions. Sprague-Dawley-derived rats, 16 or 21 days of age, were conditioned with either an element (brightness) or compound (brightness/odor) CSþ and tested for their aversion to the common element (brightness). Aversions to the brightness cue were assessed by either a traditional test of preference between the CSþ brightness and a contrasting brightness or by assessment of freezing in the presence of either brightness cue. The results indicated that strength of conditioning as well as the expression of overshadowing/potentiation was dependent on the age of the animal and on the technique used to assess conditioning.
The ability to think creatively is a vital transition skill for students with learning disabilities in the 21st century. Participation in careers with a high level of creative thinking ability not only sets the individual student up for success, but also the community in which they live. Creative self-efficacy is the belief in one’s ability to be creative and is a basic component of creativity. A positive relationship is indicated between higher creative self-efficacy and higher creative production. Thus, the development of a positive creative self serves as a supportive element for students with learning disabilities in their current and future endeavors. This article describes the importance and need for creative thinking and creative self-efficacy development in education and suggests the use of questioning techniques as a strategy for developing these important skills when working with students with learning disabilities.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.