35 research outputs found

    Studies on the Cobalt Deficiency in Ruminants (III) : Effects of Thiamine, Glucose and Cobalamin Injection on the Metabolism of Cobalt-deficient Sheep

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    International audienceN-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have been associated with diverse, syndromic X-linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X-inactivation was random in five females. The core phenotype of X-linked NAA10-related N-terminal-acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype–phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X-inactivation in females

    Standardised Chinese herbal treatment delivered by GPs compared with individualised treatment administered by practitioners of Chinese herbal medicine for women with recurrent urinary tract infections (RUTI): study protocol for a randomised controlled trial

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    BackgroundIn the UK urinary tract infections (UTIs) are the commonest bacterial infection presented by women within primary care. Recurrent urinary tract infections (RUTIs) are defined as three episodes of UTI in the last 12 months, or two episodes in the last 6 months. Between 20-30% of women who have had one episode of UTI will have a RUTI, around 25% of these will develop subsequent recurrent episodes. RUTIs can have a significant negative effect on quality of life, and have a high impact on health care costs as a result of outpatient visits, diagnostic tests and prescriptions. Chinese herbal medicine (CHM) has a recorded history of treating the symptoms of UTIs for over 2000 years. More recent clinical research in China has provided some preliminary evidence that CHM can alleviate the symptoms of UTIs and reduce the rate of recurrence but more rigorous investigation is required.Methods/designThe RUTI trial is a double blind, randomised, placebo controlled feasibility trial. A total of 80 women will be randomised to ‘individualised’ herbs prescribed by Chinese herbal practitioner, or to ‘standardised’ herbs provided by Primary care clinicians. Both arms will have herbs for prevention of UTIs and treatment of acute episodes. Treatment duration is for 16 weeks.The primary outcomes are the number of episodes of recurrent UTIs during the trial period and after 6 months follow up, and the number of days of symptoms rated moderately bad or worse based on patient diaries. Secondary outcomes will assess participant expectations and beliefs, adherence to the treatment, adverse events, health economics, and provide quantitative and qualitative assessments of the impact of recurrent infections on the lives of women.DiscussionThe RUTI trial is the first instance of CHM delivered as a Clinical Trial of an Investigatory Medicinal Product in the UK. This study provides important information regarding the feasibility and acceptability of researching and using CHM in Primary care. Once completed it will provide provisional estimates of the variance of change in continuous outcomes to inform a power calculation for a larger, more definitive trial. Trial registration: EudraCT number 2013-004657-24 Registered 5th September 2014.NHS ethics ref: 14/LO/1425<br/

    Tissue-specific mitochondrial HIGD1C promotes oxygen sensitivity in carotid body chemoreceptors.

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    Mammalian carotid body arterial chemoreceptors function as an early warning system for hypoxia, triggering acute life-saving arousal and cardiorespiratory reflexes. To serve this role, carotid body glomus cells are highly sensitive to decreases in oxygen availability. While the mitochondria and plasma membrane signaling proteins have been implicated in oxygen sensing by glomus cells, the mechanism underlying their mitochondrial sensitivity to hypoxia compared to other cells is unknown. Here, we identify HIGD1C, a novel hypoxia-inducible gene domain factor isoform, as an electron transport chain complex IV-interacting protein that is almost exclusively expressed in the carotid body and is therefore not generally necessary for mitochondrial function. Importantly, HIGD1C is required for carotid body oxygen sensing and enhances complex IV sensitivity to hypoxia. Thus, we propose that HIGD1C promotes exquisite oxygen sensing by the carotid body, illustrating how specialized mitochondria can be used as sentinels of metabolic stress to elicit essential adaptive behaviors

    Optical properties and thermal durability of copper cobalt oxide thin film coatings with integrated silica antireflection layer

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    Copper cobalt oxide (Cu2CoO3) thin film coatings integrated with silica (SiO2) antireflection (AR) layer have been deposited on the top of aluminum substrates using a simple sol-gel dip-coating method. Reflectance spectra of the coatings were generated using spectroscopic methods while the coatings were subjected to an accelerated thermal durability test. The addition of silica changed the reflectance spectra of coatings within the wavelength range of 0.3–15.4 µm. The absorptance decreased with the increase of the withdrawal rate in range of 10–40 mm/min, while the emittance increased with the increase of the withdrawal rate. The optimum optical parameters for this study were absorptance, αS=84.96%; emittance, εT=5.63% corresponding to the coating with a silica AR layer at withdrawal rate of 10 mm/min. The coatings with the silica AR layer were shown to be thermally durable in which no discernible ‘cracking’ phenomenon was observed. The degradation of the coatings with the silica AR layer was predominantly governed by temperature changes rather than exposure time
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