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The molecular biology of frutose intoleranceAli, Manir January 1995 (has links)
No description available.
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A novel method for the isolation of genes encoding peroxisomal matrix proteinsSpathaky, Jane Mary January 1994 (has links)
No description available.
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Natural therapy for insulin-resistance syndrome and type II diabetesMarakis, Georgios January 2000 (has links)
No description available.
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Biochemical characterisation and genetic complementation analysis of generalised peroxisomal disorders and Niemann-Pick disease type CSteinberg, Steven Jeffrey January 1995 (has links)
No description available.
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Childhood obesityWetta, Janice January 2010 (has links)
Typescript (photocopy). / Digitized by Kansas Correctional Industries
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Perceptions of Quality of Life, Peer Relationships, and Health Literacy in Adolescents with Phenylketonuria (PKU)Wesley, Katherine L. 30 May 2018 (has links)
Phenylketonuria (PKU) is a rare inborn error of metabolism that can be managed through lifelong treatment adherence to a restricted diet and supplemental medical formula (Vockley et al., 2014). Untreated PKU can result in severe intellectual disability, anxiety, depression, executive functioning deficits, and seizures (Cappelletti et al., 2013; Moyle et al., 2007). Even individuals who are continuously treated for PKU can experience high rates of anxiety and depression, executive functioning deficits, social difficulties, and lower full-scale IQ scores than their siblings and parents (Bosch et al., 2015; Manti et al., 2016; Waisbren et al., 2007). Additionally, adolescents are at risk for social difficulties due to the restricted diet and treatment of PKU (Bosch et al., 2015). Quality of life is just beginning to be studied in individuals with PKU. Most studies have focused on adults or on parent or clinician ratings of children and adolescents’ quality of life. Results of these studies have been varied with some individuals with PKU and their parents reporting normal quality of life compared to peers (Cazzorla et al., 2014; Thimm, Schmidt, Heldt, & Spiekerkoetter, 2013) and others showing parents rate their children with PKU as being less happy, confident, and joyful than healthy peers (Landolt, Nuoffer, Steinmann, & Superti-Furga, 2002).
A qualitative interview study was conducted with five adolescents with PKU between the ages of 14 and 18 years. The purpose of this study was to gain an in-depth awareness of the beliefs and perceptions of these adolescents with PKU on how they understand and conceptualize their condition, the impact it has on their life, factors that influence their quality of life, and perceptions of their peer relationships in regard to their illness. A romantic conceptualization of interviewing was used to build rapport and trust between the interviewer and interviewee in order to access the authentic self of each participant (Roulston, 2010a). Each adolescent participated in a series of four semi-structured individual interviews. Data were analyzed using thematic analysis (Braun & Clarke, 2006).
Results indicated adolescents with PKU describe their overall quality of life in positive terms and report similar influences on their life satisfaction and quality of life as other adolescents. Adolescents with PKU identified relationships with family and friends as the most salient influence on their life satisfaction. They largely perceive their social lives to be similar to their peers and believe they are more similar to their peers than different. Adolescents with PKU describe few challenges in social settings and view these challenges as simply inconveniences. However, adolescents with PKU minimize their condition and the impact it has on their life. When talking about PKU, sharing it with others, or when it comes up in social situations they use words that describe it as minor in consequence and significance. The majority of participants had a general understanding and knowledge of how they got PKU, their treatment, and potential consequences. Nevertheless, adolescents also reported a number of incorrect consequences, a lack of awareness of consequences, and misconceptions about PKU and the impact it can have on their life. Implications for medical providers and behavioral health professionals who work with adolescents with PKU include the importance of monitoring and providing extra support during natural transition times, such as moving from elementary school to middle school and then to high school. Current findings also indicate there is room for improvement in health literacy among adolescents with PKU and specific strategies are discussed. Future research should continue to explore the experiences of individuals with PKU during late childhood and early adolescence, the time frame identified as most difficult in the current study. Another direction for future research is further exploration of how PKU influences the idea of self-concept and self-image.
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The role of heat shock protein 72 in preventing obesity-induced insulin resistanceChung, Jason, jason.chung@rmit.edu.au January 2008 (has links)
Patients with type 2 diabetes have reduced gene expression of Heat Shock Protein (HSP) 72 which correlates with reduced insulin sensitivity. Heat therapy, which activates HSP72, improves clinical parameters in these patients. Activation of several inflammatory signalling proteins such as c-jun amino terminal kinase (JNK) can induce insulin resistance but HSP72 can block the induction of these molecules in vitro. Whether up-regulation of HSP72 can protect against insulin resistance is not known. In experiments reported in this thesis we show that HSP72 protects against insulin resistance and blocks the activation of JNK in vivo. We first show that mice that underwent weekly heat shock therapy to increase intramuscular HSP72 protein expression were protected from high fat diet (HFD)-induced hyperinsulinemia, hyperglycemia and glucose intolerance, factors associated with reduced JNK phosphorylation. To determine whether the elevation in intramuscular HSP72 expressio n and protection from insulin resistance are causally linked, we studied muscle specific HSP72 overexpression mice (HSP72+/+). Compared with wild-type mice, HSP72+/+ mice were protected from hyperglycemia, hyperinsulinemia, glucose intolerance and insulin resistance when placed on a HFD, factors associated with a complete inhibition of HFD-induced JNK phosphorylation in skeletal muscle. Finally, we show that HSP72+/+ mice display greater mitochondrial enzyme activity in the liver, adipose tissue and skeletal muscle, corresponding to reduced plasma free fatty acid levels, white adipose tissue mass and alterations in circulating adipokines. These data identify HSP72 as being pivotal in protecting against obesity-induced insulin resistance possibly by blocking JNK and/or by up-regulation of mitochondrial oxidative capacity.
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The Effects of Hypoxia on Human Adipose Tissue Lipid Storage and Mobilization Functions: From Primary Cell Culture to Healthy MenMahat, Bimit January 2017 (has links)
Adipose tissue plays a central role in the regulation of lipid storage and mobilization. A tight control between adipose tissue lipid storage and mobilization functions must be exerted to prevent an overload of lipids at other organs such as the heart, liver and skeletal muscles, and favor the risk of developing metabolic disorders, such as Type 2 diabetes and cardiovascular diseases (CVD). There is strong evidence from animal studies that low oxygen levels (hypoxia) are noted in adipose tissue as the mass of the organ excessively expands and, in turn, exacerbates some adipose tissue functions. Whether hypoxia exposure, which could be derived from reduced environmental oxygen availability, disease or a combination of both, affects adipose tissue lipid storage and mobilization functions in humans is not well known. Using in vitro and in vivo approaches, this thesis aimed at characterizing the effects of hypoxia on human adipose tissue lipid storage and lipid mobilization functions. Study I investigated how hypoxia can modulate human adipose functions such as lipid storage and lipid mobilization in vitro. Study II examined whether acute intermittent hypoxia, which simulates obstructive sleep apnea, affects adipose tissue lipid storage/mobilization functions and triglyceride levels in healthy young men in postprandial state. Study III tested the effect of an acute 6-hour continuous exposure to hypoxia (fraction of inspired oxygen (FIO2) = 0.12)) on plasma triglyceride levels in healthy young men in the fasting state. Study I indicates that both acute (24h) and chronic (14d) hypoxia (3%, and 10% O2) modulate human adipose tissue lipid storage and mobilization functions in a different manner. Study II demonstrates that acute exposure to intermittent hypoxia (6h) is sufficient to increase plasma non-esterified fatty acids (NEFA) levels, as well as insulin levels, but does not alter circulating triglyceride or subcutaneous adipose tissue lipid storage and/or mobilization capacity ex vivo in healthy men. Study III shows that acute exposure to normobaric hypoxia increases circulating NEFA and glycerol concentrations but did not translate in altering circulating triglycerides in fasting healthy men. In conclusion, our observations suggest that an exposure to reduced oxygen levels impairs human adipose tissue storage and/or mobilization functions, a phenomenon known in the development of metabolic disorders, such as Type 2 diabetes and CVD.
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Studies on the role of cholesterol biosynthesis pathway on differentiation, cell death, and metabolism in adipocytes / 脂肪細胞におけるコレステロール生合成系が分化・細胞死・代謝調節に果たす役割に関する研究Yu-Sheng, Yeh 25 March 2019 (has links)
京都大学 / 0048 / 新制・課程博士 / 博士(農学) / 甲第21810号 / 農博第2323号 / 新制||農||1066(附属図書館) / 学位論文||H31||N5182(農学部図書室) / 京都大学大学院農学研究科食品生物科学専攻 / (主査)教授 入江 一浩, 教授 橋本 渉, 准教授 後藤 剛 / 学位規則第4条第1項該当 / Doctor of Agricultural Science / Kyoto University / DGAM
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Fundamental Studies of Ionization Response and New Strategies by for Newborn Screening of Inherited Metabolic Disorder CE-ESI-MSChalcraft, Kenneth 09 1900 (has links)
CE-ESI-MS has become a powerful analytical tool capable of simultaneous
identification and quantification of many classes of biologically relevant molecules. For
studies in metabolomics, CE-ESI-MS offers a unique platform which will allow for the
systematic elucidation of unknown metabolites in complex matrices without the need for
complex sample preparation steps required with other techniques. In this thesis, a novel
theoretical prediction model which will allow the estimation of detector response in ESIMS
is outlined. This response model will allow researchers to quantitatively predict
relative ionization effiency of compounds based on proposed two-dimensional structures
without the need for a purified standard. Another feature of this model is that it can be
applied to complex biological samples without the need for off-line sample pretreatment.
Also in this thesis, a novel neonatal screening method will be presented which will aid
clinical chemists in determining the presence of inborn metabolic disorders. This
screening method which aims to compliment current protocols will allow health care
professionals to further assess dried blood spot samples by providing simultaneous
separation, identification, and quantification of relevant metabolites. This method also
offers an alternatives to other protocols in place which are necessary to measure acid
labile compounds which cannot be assessed by standard screening techniques. / Thesis / Master of Science (MSc)
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