WorldWideScience

Sample records for nutrient deficiency disorders

  1. Genetics Home Reference: CDKL5 deficiency disorder

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDKL5 deficiency disorder CDKL5 deficiency disorder Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description CDKL5 deficiency disorder is characterized by seizures that begin ...

  2. Iodine deficiency disorders

    Energy Technology Data Exchange (ETDEWEB)

    Ali, S M [Pakistan Council for Science and Technology, Islamabad (Pakistan)

    1994-12-31

    Iodine deficiency (IDD) is one of the common problem in the diet. Iodine deficiency as prevalence of goiter in population occurs in the mountainous areas. There is consensus that 800 million people are at risk of IDD from living in iodine deficient area and 190 million from goiter. Very high prevalence of IDD in different parts of the world are striking. It has generally observed that in iodine-deficient areas about 50% are affected with goiter, 1-5% from cretinsim and 20% from impaired mental and/or mortor function. (A.B.).

  3. Iodine-deficiency disorders

    NARCIS (Netherlands)

    Zimmermann, M.B.; Jooste, P.L.; Pandav, C.S.

    2008-01-01

    billion individuals worldwide have insufficient iodine intake, with those in south Asia and sub-Saharan Africa particularly affected. Iodine deficiency has many adverse effects on growth and development. These effects are due to inadequate production of thyroid hormone and are termed

  4. Iodine deficiency and thyroid disorders.

    Science.gov (United States)

    Zimmermann, Michael B; Boelaert, Kristien

    2015-04-01

    Iodine deficiency early in life impairs cognition and growth, but iodine status is also a key determinant of thyroid disorders in adults. Severe iodine deficiency causes goitre and hypothyroidism because, despite an increase in thyroid activity to maximise iodine uptake and recycling in this setting, iodine concentrations are still too low to enable production of thyroid hormone. In mild-to-moderate iodine deficiency, increased thyroid activity can compensate for low iodine intake and maintain euthyroidism in most individuals, but at a price: chronic thyroid stimulation results in an increase in the prevalence of toxic nodular goitre and hyperthyroidism in populations. This high prevalence of nodular autonomy usually results in a further increase in the prevalence of hyperthyroidism if iodine intake is subsequently increased by salt iodisation. However, this increase is transient because iodine sufficiency normalises thyroid activity which, in the long term, reduces nodular autonomy. Increased iodine intake in an iodine-deficient population is associated with a small increase in the prevalence of subclinical hypothyroidism and thyroid autoimmunity; whether these increases are also transient is unclear. Variations in population iodine intake do not affect risk for Graves' disease or thyroid cancer, but correction of iodine deficiency might shift thyroid cancer subtypes toward less malignant forms. Thus, optimisation of population iodine intake is an important component of preventive health care to reduce the prevalence of thyroid disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Dopamine alleviates nutrient deficiency-induced stress in Malus hupehensis.

    Science.gov (United States)

    Liang, Bowen; Li, Cuiying; Ma, Changqing; Wei, Zhiwei; Wang, Qian; Huang, Dong; Chen, Qi; Li, Chao; Ma, Fengwang

    2017-10-01

    Dopamine mediates many physiological processes in plants. We investigated its role in regulating growth, root system architecture, nutrient uptake, and responses to nutrient deficiencies in Malus hupehensis Rehd. Under a nutrient deficiency, plants showed significant reductions in growth, chlorophyll concentrations, and net photosynthesis, along with disruptions in nutrient uptake, transport, and distribution. However, pretreatment with 100 μM dopamine markedly alleviated such inhibitions. Supplementation with that compound enabled plants to maintain their photosynthetic capacity and development of the root system while promoting the uptake of N, P, K, Ca, Mg, Fe, Mn, Cu, Zn, and B, altering the way in which those nutrients were partitioned throughout the plant. The addition of dopamine up-regulated genes for antioxidant enzymes involved in the ascorbate-glutathione cycle (MdcAPX, MdcGR, MdMDHAR, MdDHAR-1, and MdDHAR-2) but down-regulated genes for senescence (SAG12, PAO, and MdHXK). These results indicate that exogenous dopamine has an important antioxidant and anti-senescence effect that might be helpful for improving nutrient uptake. Our findings demonstrate that dopamine offers new opportunities for its use in agriculture, especially when addressing the problem of nutrient deficiencies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  6. Lichen substances prevent lichens from nutrient deficiency.

    Science.gov (United States)

    Hauck, Markus; Willenbruch, Karen; Leuschner, Christoph

    2009-01-01

    The dibenzofuran usnic acid, a widespread cortical secondary metabolite produced by lichen-forming fungi, was shown to promote the intracellular uptake of Cu(2+) in two epiphytic lichens, Evernia mesomorpha and Ramalina menziesii, from acidic, nutrient-poor bark. Higher Cu(2+) uptake in the former, which produces the depside divaricatic acid in addition to usnic acid, suggests that this depside promotes Cu(2+) uptake. Since Cu(2+) is one of the rarest micronutrients, promotion of Cu(2+) uptake by lichen substances may be crucial for the studied lichens to survive in their nutrient-poor habitats. In contrast, study of the uptake of other metals in E. mesomorpha revealed that the intracellular uptake of Mn(2+), which regularly exceeds potentially toxic concentrations in leachates of acidic tree bark, was partially inhibited by the lichen substances produced by this species. Inhibition of Mn(2+) uptake by lichen substances previously has been demonstrated in lichens. The uptake of Fe(2+), Fe(3+), Mg(2+), and Zn(2+), which fail to reach toxic concentrations in acidic bark at unpolluted sites, although they are more common than Cu(2+), was not affected by lichen substances of E. mesomorpha.

  7. Characterization of nutrient deficiency in Hancornia speciosa Gomes seedlings by omitting micronutrients from the nutrient solution

    Directory of Open Access Journals (Sweden)

    Layara Alexandre Bessa

    2013-06-01

    Full Text Available Hancornia speciosa Gomes (Mangaba tree is a fruit tree belonging to the Apocynaceae family and is native to Brazil. The production of seedlings of this species is limited by a lack of technical and nutritional expertise. To address this deficiency, this study aimed to characterize the visual symptoms of micronutrient deficiency and to assess growth and leaf nutrient accumulation in H. speciosa seedlings supplied with nutrient solutions that lack individual micronutrients. H. speciosa plants were grown in nutrient solution in a greenhouse according to a randomized block design, with four replicates. The treatments consisted of a group receiving complete nutrient solution and groups treated with a nutrient solution lacking one of the following micronutrients: boron (B, copper (Cu, iron (Fe, manganese (Mn, zinc (Zn, and molybdenum (Mo. The visual symptoms of nutrient deficiency were generally easy to characterize. Dry matter production was affected by the omission of micronutrients, and the treatment lacking Fe most limited the stem length, stem diameter, root length, and number of leaves in H. speciosa seedlings as well as the dry weight of leaves, the total dry weight, and the relative growth in H. speciosa plants. The micronutrient contents of H. speciosa leaves from plants receiving the complete nutrient solution treatment were, in decreasing order, Fe>Mn>Cu>Zn>B.

  8. Identification of Nutrient Deficiencies at Calcareous Soils for Maize

    Directory of Open Access Journals (Sweden)

    Dedi Nursyamsi

    2010-09-01

    Full Text Available A pot experiment was conducted to identify nutrient deficiencies at calcareous soils for maize (Zea mays, L. in green house of Indonesian Soil Research Institute using top soil (0-20 cm samples taken from Bogor (Typic Hapludalfs and Blora (Typic Haplustalfs. The experiment used Randomized Completely Block Design, minus one test with 12 treatments and three replications, as well as maize of P21 variety as plant indicator. The results showed that use of N, P, K, Zn, Cu, Fe, and Mn fertilizers increased soil macro nutrients, i.e.: soil total-N, Olsen-P, HCl-P, and HCl-K, as well as soil micro nutrients, i.e.: soil DTPA-Zn, Cu, Fe, and Mn at both tested soils. Use of maize straw compost increased soil organic-C, total-N, HCl-K, and exchangeable Ca at Typic Hapludalfs and increased only soil organic-C and total-N at Typic Haplustalfs. Use of animal manure compost increased soil organic-C, exchangeable Ca and Mg, and CEC. Use of N, P, K, S, Zn, Cu, Fe, and Mn fertilizers increased each plant nutrients uptake at the soils. Use of both organic matters increased plant N, P, K, and Fe uptake at Typic Hapludalfs as well as increased only plant N, P, and K uptake at Typic Haplustalfs. Identification result showed that maize growth suffered from N, P, and K deficiencies at Typic Hapludalfs as well as N and P deficiencies at Typic Haplustalfs. Beside the nutrients, soil organic matter was also found out as limiting factor for maize growth in the soils.

  9. Leaf mineral nutrient remobilization during leaf senescence and modulation by nutrient deficiency.

    Directory of Open Access Journals (Sweden)

    Anne eMaillard

    2015-05-01

    Full Text Available Higher plants have to cope with fluctuating mineral resource availability. However strategies such as stimulation of root growth, increased transporter activities, and nutrient storage and remobilization have been mostly studied for only a few macronutrients. Leaves of cultivated crops (Zea mays, Brassica napus, Pisum sativum, Triticum aestivum, Hordeum vulgare and tree species (Quercus robur, Populus nigra, Alnus glutinosa grown under field conditions were harvested regularly during their life span and analysed to evaluate the net mobilization of 13 nutrients during leaf senescence. While N was remobilized in all plant species with different efficiencies ranging from 40% (maize to 90% (wheat, other macronutrients (K-P-S-Mg were mobilized in most species. Ca and Mn, usually considered as having low phloem mobility were remobilized from leaves in wheat and barley. Leaf content of Cu-Mo-Ni-B-Fe-Zn decreased in some species, as a result of remobilization. Overall, wheat, barley and oak appeared to be the most efficient at remobilization while poplar and maize were the least efficient. Further experiments were performed with rapeseed plants subjected to individual nutrient deficiencies. Compared to field conditions, remobilization from leaves was similar (N-S-Cu or increased by nutrient deficiency (K-P-Mg while nutrient deficiency had no effect on Mo-Zn-B-Ca-Mn, which seemed to be non-mobile during leaf senescence under field conditions. However, Ca and Mn were largely mobilized from roots (-97 and -86% of their initial root contents, respectively to shoots. Differences in remobilization between species and between nutrients are then discussed in relation to a range of putative mechanisms.

  10. Zinc deficiency in field-grown pecan trees: changes in leaf nutrient concentrations and structure.

    Science.gov (United States)

    Ojeda-Barrios, Dámaris; Abadía, Javier; Lombardini, Leonardo; Abadía, Anunciación; Vázquez, Saúl

    2012-06-01

    Zinc (Zn) deficiency is a typical nutritional disorder in pecan trees [Carya illinoinensis (Wangenh.) C. Koch] grown under field conditions in calcareous soils in North America, including northern Mexico and south-western United States. The aim of this study was to assess the morphological and nutritional changes in pecan leaves affected by Zn deficiency as well as the Zn distribution within leaves. Zinc deficiency led to decreases in leaf chlorophyll concentrations, leaf area and trunk cross-sectional area. Zinc deficiency increased significantly the leaf concentrations of K and Ca, and decreased the leaf concentrations of Zn, Fe, Mn and Cu. All nutrient values found in Zn-deficient leaves were within the sufficiency ranges, with the only exception of Zn, which was approximately 44, 11 and 9 µg g(-1) dry weight in Zn-sufficient, moderately and markedly Zn-deficient leaves, respectively. Zinc deficiency led to decreases in leaf thickness, mainly due to a reduction in the thickness of the palisade parenchyma, as well as to increases in stomatal density and size. The localisation of Zn was determined using the fluorophore Zinpyr-1 and ratio-imaging technique. Zinc was mainly localised in the palisade mesophyll area in Zn-sufficient leaves, whereas no signal could be obtained in Zn-deficient leaves. The effects of Zn deficiency on the leaf characteristics of pecan trees include not only decreases in leaf chlorophyll and Zn concentrations, but also a reduction in the thickness of the palisade parenchyma, an increase in stomatal density and pore size and the practical disappearance of Zn leaf pools. These characteristics must be taken into account to design strategies to correct Zn deficiency in pecan tree in the field. Copyright © 2012 Society of Chemical Industry.

  11. Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency

    Directory of Open Access Journals (Sweden)

    Kavya Reddy

    2016-03-01

    Full Text Available Attenuated auto-lysosomal system has been associated with Alzheimer disease (AD, yet all underlying molecular mechanisms leading to this impairment are unknown. We show that the amino acid sensing of mechanistic target of rapamycin complex 1 (mTORC1 is dysregulated in cells deficient in presenilin, a protein associated with AD. In these cells, mTORC1 is constitutively tethered to lysosomal membranes, unresponsive to starvation, and inhibitory to TFEB-mediated clearance due to a reduction in Sestrin2 expression. Normalization of Sestrin2 levels through overexpression or elevation of nuclear calcium rescued mTORC1 tethering and initiated clearance. While CLEAR network attenuation in vivo results in buildup of amyloid, phospho-Tau, and neurodegeneration, presenilin-knockout fibroblasts and iPSC-derived AD human neurons fail to effectively initiate autophagy. These results propose an altered mechanism for nutrient sensing in presenilin deficiency and underline an importance of clearance pathways in the onset of AD.

  12. Identification and quantification of nitrogen nutrient deficiency in the activated sludge process using respirometry

    NARCIS (Netherlands)

    Ning, Z.; Patry, G.G.; Spanjers, H.

    2000-01-01

    Experimental protocols to identify and quantify nitrogen nutrient deficiency in the activated sludge process were developed and tested using respirometry. Respirometric experiments showed that when a nitrogen nutrient deficient sludge is exposed to ammonia nitrogen, the oxygen uptake rate (OUR) of

  13. A REVIEW ON DIAGNOSIS OF NUTRIENT DEFICIENCY SYMPTOMS IN PLANT LEAF IMAGE USING DIGITAL IMAGE PROCESSING

    Directory of Open Access Journals (Sweden)

    S Jeyalakshmi

    2017-05-01

    Full Text Available Plants, for their growth and survival, need 13 mineral nutrients. Toxicity or deficiency in any one or more of these nutrients affects the growth of plant and may even cause the destruction of the plant. Hence, a constant monitoring system for tracking the nutrient status in plants becomes essential for increase in production as well as quality of yield. A diagnostic system using digital image processing would diagnose the deficiency symptoms much earlier than human eyes could recognize. This will enable the farmers to adopt appropriate remedial action in time. This paper focuses on the review of work using image processing techniques for diagnosing nutrient deficiency in plants.

  14. Thyroid disorders in mild iodine deficiency.

    Science.gov (United States)

    Laurberg, P; Nøhr, S B; Pedersen, K M; Hreidarsson, A B; Andersen, S; Bülow Pedersen, I; Knudsen, N; Perrild, H; Jørgensen, T; Ovesen, L

    2000-11-01

    Comparative epidemiologic studies in areas with low and high iodine intake and controlled studies of iodine supplementation have demonstrated that the major consequence of mild-to-moderate iodine deficiency for the health of the population is an extraordinarily high occurrence of hyperthyroidism in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine deficiency should be corrected. However, there is evidence that a high iodine intake may be associated with more autoimmune hypothyroidism, and that Graves' disease may manifest at a younger age and be more difficult to treat. Hence, the iodine intake should be brought to a level at which iodine deficiency disorders are avoided but not higher. Iodine supplementation programs should aim at relatively uniform iodine intake, avoiding deficient or excessive iodine intake in subpopulations. To adopt such a strategy, surveillance programs are needed.

  15. JAZ repressors: Possible Involvement in Nutrients Deficiency Response in Rice and Chickpea

    Directory of Open Access Journals (Sweden)

    Ajit P. Singh

    2015-11-01

    Full Text Available Jasmonates (JA are well-known phytohormones which play important roles in plant development and defence against pathogens. Jasmonate ZIM domain (JAZ proteins are plant-specific proteins and act as transcriptional repressors of JA-responsive genes. JA regulates both biotic and abiotic stress responses in plants; however, its role in nutrient deficiency responses is very elusive. Although, JA is well-known for root growth inhibition, little is known about behaviour of JAZ genes in response to nutrient deficiencies, under which root architectural alteration is an important adaptation. Using protein sequence homology and a conserved-domains approach, here we identify ten novel JAZ genes from the recently sequenced Chickpea genome, which is one of the most nutrient efficient crops. Both rice and chickpea JAZ genes express in tissue- and stimuli-specific manners. Many of which are preferentially expressed in root. Our analysis further showed differential expression of JAZ genes under macro (NPK and micronutrients (Zn, Fe deficiency in rice and chickpea roots. While both rice and chickpea JAZ genes showed a certain level of specificity towards type of nutrient deficiency, generally majority of them showed induction under K deficiency. Generally, JAZ genes showed an induction at early stages of stress and expression declined at later stages of macro-nutrient deficiency. Our results suggest that JAZ genes might play a role in early nutrient deficiency response both in monocot and dicot roots, and information generated here can be further used for understanding the possible roles of JA in root architectural alterations for nutrient deficiency adaptations

  16. Ethylene and the Regulation of Physiological and Morphological Responses to Nutrient Deficiencies

    Science.gov (United States)

    García, María José; Romera, Francisco Javier; Lucena, Carlos; Alcántara, Esteban; Pérez-Vicente, Rafael

    2015-01-01

    To cope with nutrient deficiencies, plants develop both morphological and physiological responses. The regulation of these responses is not totally understood, but some hormones and signaling substances have been implicated. It was suggested several years ago that ethylene participates in the regulation of responses to iron and phosphorous deficiency. More recently, its role has been extended to other deficiencies, such as potassium, sulfur, and others. The role of ethylene in so many deficiencies suggests that, to confer specificity to the different responses, it should act through different transduction pathways and/or in conjunction with other signals. In this update, the data supporting a role for ethylene in the regulation of responses to different nutrient deficiencies will be reviewed. In addition, the results suggesting the action of ethylene through different transduction pathways and its interaction with other hormones and signaling substances will be discussed. PMID:26175512

  17. Iodine deficiency disorders (IDD control in India

    Directory of Open Access Journals (Sweden)

    Chandrakant S Pandav

    2013-01-01

    Full Text Available Iodine deficiency disorders (IDD constitute the single largest cause of preventable brain damage worldwide. Majority of consequences of IDD are invisible and irreversible but at the same time these are preventable. In India, the entire population is prone to IDD due to deficiency of iodine in the soil of the subcontinent and consequently the food derived from it. To combat the risk of IDD, salt is fortified with iodine. However, an estimated 350 million people do not consume adequately iodized salt and, therefore, are at risk for IDD. Of the 325 districts surveyed in India so far, 263 are IDD-endemic. The current household level iodized salt coverage in India is 91 per cent with 71 per cent households consuming adequately iodized salt. The IDD control goal in India was to reduce the prevalence of IDD below 10 per cent in the entire country by 2012. What is required is a "mission approach" with greater coordination amongst all stakeholders of IDD control efforts in India. Mainstreaming of IDD control in policy making, devising State specific action plans to control IDD, strict implementation of Food Safety and Standards (FSS Act, 2006, addressing inequities in iodized salt coverage (rural-urban, socio-economic, providing iodized salt in Public Distribution System, strengthening monitoring and evaluation of IDD programme and ensuring sustainability of IDD control activities are essential to achieve sustainable elimination of IDD in India.

  18. Prognosis of physiological disorders in physic nut to N, P, and K deficiency during initial growth.

    Science.gov (United States)

    Santos, Elcio Ferreira; Macedo, Fernando Giovannetti; Zanchim, Bruno José; Lima, Giuseppina Pace Pereira; Lavres, José

    2017-06-01

    The description of physiological disorders in physic nut plants deficient in nitrogen (N), phosphorus (P) and potassium (K) may help to predict nutritional imbalances before the appearance of visual symptoms and to guide strategies for early nutrient supply. The aim of this study was to evaluate the growth of physic nuts (Jatropha curcas L.) during initial development by analyzing the gas exchange parameters, nutrient uptake and use efficiency, as well as the nitrate reductase and acid phosphatase activities and polyamine content. Plants were grown in a complete nutrient solution and solutions from which N, P or K was omitted. The nitrate reductase activity, phosphatase acid activity, polyamine content and gas exchange parameters from leaves of N, P and K-deficient plants indicates earlier imbalances before the appearance of visual symptoms. Nutrient deficiencies resulted in reduced plant growth, although P- and K-deficient plants retained normal net photosynthesis (A), stomatal conductance (g s ) and instantaneous carboxylation efficiency (k) during the first evaluation periods, as modulated by the P and K use efficiencies. Increased phosphatase acid activity in P-deficient plants may also contribute to the P use efficiency and to A and gs during the first evaluations. Early physiological and biochemical evaluations of N-, P- and K-starved plants may rely on reliable, useful methods to predict early nutritional imbalances. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. The Status of Iodine Nutrition and Iodine Deficiency Disorders ...

    African Journals Online (AJOL)

    Background: Iodine deficiency disorders are serious public health problems in Ethiopia. The aim of this study was to measure the prevalence and severity of iodine deficiency disorders among school children in Metekel Zone. Methods: A cross-sectional school based descriptive study was conducted between February 2011 ...

  20. Nutritional management of breastfeeding infants for the prevention of common nutrient deficiencies and excesses

    Directory of Open Access Journals (Sweden)

    Jin Soo Moon

    2011-07-01

    Full Text Available Breastfeeding is the best source of nutrition for every infant, and exclusive breastfeeding for 6 months is usually optimal in the common clinical situation. However, inappropriate complementary feeding could lead to a nutrient-deficient status, such as iron deficiency anemia, vitamin D deficiency, and growth faltering. The recent epidemic outbreak of obesity in Korean children emphasizes the need for us to control children’s daily sedentary life style and their intakes of high caloric foods in order to prevent obesity. Recent assessment of breastfeeding in Korea has shown that the rate is between 63% and 89%; thus, up-to-dated evidence-based nutritional management of breastfeeding infants to prevent common nutrient deficiencies or excesses should be taught to all clinicians and health care providers.

  1. Combating micronutrient deficiency disorders amongst children

    Directory of Open Access Journals (Sweden)

    Umesh Kapil

    2014-11-01

    Full Text Available Micronutrients (MN are the nutrients that are needed by the body in small quantities which play leading roles in the production of enzymes, hormones and other substances that help to regulate growth activity, development and functioning of the immune and reproductive systems. Children, adolescent boys & girls and expectant mothers form a vulnerable group in developing countries where economic stress and food security are issues of concern. MNs deficiencies, which have been considered as major risk factors in child survival are the leading cause of mental retardation, preventable blindness, morbidity, birth defects, morbidity and mortality. Micronutrient malnutrition has many adverse effects on human health, not all of which are clinically evident. Even moderate levels of deficiency (which can be detected by biochemical or clinical measurements can have serious detrimental effects on human function. Thus, in addition to the obvious and direct health effects, the existence of MN deficiency has profound implications for economic development and productivity, particularly in terms of the potentially huge public health costs and the loss of human capital formation.According to WHO mortality data, around 0.8 million deaths (1.5% of the total can be attributed to iron deficiency each year, and a similar number to vitamin A deficiency. In terms of the loss of healthy life, expressed in  disability-adjusted life years (DALYs, iron-deficiency anaemia results in  25 million DALYs lost (or 2.4% of the global total, vitamin A deficiency  in 18 million DALYs lost (or 1.8% of the global total and iodine deficiency  in 2.5 million DALYs lost (or 0.2% of the global total [1].A child belonging to low socio-economic families residing in poor environmental and sanitation settings consume low quantity of foods which deficient not only in 2-3 MNs Deficiencies but also in macronutrients. These children also suffer from recurrent episodes of morbidities which

  2. Combating micronutrient deficiency disorders amongst children

    Directory of Open Access Journals (Sweden)

    Umesh Kapil

    2014-12-01

    Full Text Available Micronutrients (MN are the nutrients that are needed by the body in small quantities which play leading roles in the production of enzymes, hormones and other substances that help to regulate growth activity, development and functioning of the immune and reproductive systems. Children, adolescent boys & girls and expectant mothers form a vulnerable group in developing countries where economic stress and food security are issues of concern. MNs deficiencies, which have been considered as major risk factors in child survival are the leading cause of mental retardation, preventable blindness, morbidity, birth defects, morbidity and mortality. Micronutrient malnutrition has many adverse effects on human health, not all of which are clinically evident. Even moderate levels of deficiency (which can be detected by biochemical or clinical measurements can have serious detrimental effects on human function. Thus, in addition to the obvious and direct health effects, the existence of MN deficiency has profound implications for economic development and productivity, particularly in terms of the potentially huge public health costs and the loss of human capital formation. According to WHO mortality data, around 0.8 million deaths (1.5% of the total can be attributed to iron deficiency each year, and a similar number to vitamin A deficiency. In terms of the loss of healthy life, expressed in  disability-adjusted life years (DALYs, iron-deficiency anaemia results in  25 million DALYs lost (or 2.4% of the global total, vitamin A deficiency  in 18 million DALYs lost (or 1.8% of the global total and iodine deficiency  in 2.5 million DALYs lost (or 0.2% of the global total [1]. A child belonging to low socio-economic families residing in poor environmental and sanitation settings consume low quantity of foods which deficient not only in 2-3 MNs Deficiencies but also in macronutrients. These children also suffer from recurrent episodes of morbidities

  3. Complications, Reoperations, and Nutrient Deficiencies Two Years after Sleeve Gastrectomy

    Directory of Open Access Journals (Sweden)

    Nicole Pech

    2012-01-01

    Full Text Available Background. The aim of this study was to investigate patient outcomes and nutritional deficiencies following sleeve gastrectomy (SG during a follow-up of two years. Methods. Over a period of 56 months, all consecutive patients who underwent SG were documented in this prospective, single-center, observational study. The study endpoints included operative time, complication rates, nutritional deficiencies and percentage of excess weight loss (%EWL. Results. From September 26, 2005 to May 28, 2009, 82 patients (female : male = 48 : 34 with a mean age of 43.3 years (range: 22–64 and a preoperative BMI of 52.5 kg/m² (range: 36.8–77.0 underwent SG. Major complications were observed in 9.8% of the patients, with 1 death. During follow up 51.2% of patients were supplemented with iron, 36.6% with zinc, 37.8% with calcium, 26.8% with vitamin D, 46.3% with vitamin B12 and 41.5% with folic acid. %EWL was 54.3, 65.3 and 62.6% after 6, 12 and 24 months. Conclusion. SG as a single step procedure is an effective bariatric intervention. Nutritional deficiencies after SG can be detected by routine nutritional screening. Our results show that Vitamin B12 supplementation should suggest routinely after SG.

  4. Complications and nutrient deficiencies two years after sleeve gastrectomy

    Directory of Open Access Journals (Sweden)

    Pech Nicole

    2012-07-01

    Full Text Available Abstract Background The aim of this systematic study was to investigate patient outcomes and nutritional deficiencies following sleeve gastrectomy (SG during a median follow-up of two years. Methods Over a period of 56 months, all consecutive patients who underwent SG were documented in this prospective, single-center, observational study. The study endpoints included complication rates, nutritional deficiencies and percentage of excess weight loss (%EWL. Results From September 26, 2005 to May 28, 2009, 100 patients (female: male = 59:41 with a mean age of 43.6 years (range: 22–64 and a preoperative BMI of 52.3 kg/² (range: 36–77 underwent SG. The mean operative time was 86.4 min (range: 35–275. Major complications were observed in 8.0 % of the patients. During the follow-up period, 25 patients (25.0 % underwent a second bariatric intervention (22 DS and 3 RYGBP. Out of the total 100 patients, 48 % were supplemented with iron, 33 % with zinc, 34 % with a combination of calcium carbonate and cholecalciferol, 24 % with vitamin D, 42 % with vitamin B12 and 40 % with folic acid. The patients who received only a SG (n = 75 had %EWL of 53.6, 65.8 and 62.6 % after 6, 12 and 24 months, respectively. Conclusions SG is a highly effective bariatric intervention for morbidly obese patients. Nutritional deficiencies resulting from the procedure can be detected by routine nutritional screening. Results of the study show that Vitamin B12 supplementation should suggested routinely.

  5. Iodine deficiency disorders in Sarawak, Malaysia.

    Science.gov (United States)

    Kiyu, A; Tambi, Z; Ahmad, Y

    1998-12-01

    The state of Sarawak in Malaysia has a high prevalence of iodine deficiency disorders (IDD). This has been revealed through a review of goitre surveys that were carried out in the State from the early 1970s to the 1990s. The primary cause was low iodine intake. Contributory factors were low iodine content in the soil and water as well as high cassava consumption. Virtual elimination of IDD is one of the nutritional goals of the IDD prevention and control programs. The strategies adopted include the iodination of coarse salt, which is sold in the market by shopkeepers and also provided free from government health clinics; legislation requiring that salt sold in IDD-gazetted areas must be iodised; and the use of iodinators to iodise water supplied by the gravity-feed system to villages and boarding schools in rural areas. The indicators used in the monitoring and evaluation of the program include the availability of iodised salt in the market and households, iodine levels in water supply that had been fitted with iodinators, goitre volume measured by ultrasound, and urinary iodine excretion among school children.

  6. Nutrient deficiencies associated with nutrition-focused physical findings of the oral cavity.

    Science.gov (United States)

    Radler, Diane Rigassio; Lister, Tracy

    2013-12-01

    Conducting nutrition-focused physical examinations and reporting the findings from the perspective of nutrition status strengthen the practitioner's assessments, interventions, and monitoring. The nutrition-focused physical examination of the oral cavity is particularly useful to identify nutrient deficiencies early and with accuracy as the tissues in the oral mucosa have a turnover rate of nutrition care. The purpose of this article is to discuss the methods of conducting a nutrition-focused oral screening examination and compile and document the evidence regarding the effects of micronutrient deficiencies on the oral mucosa. The information is formatted into a table that can be used as a tool when conducting an oral screening by identifying possible deficiencies based on the observations and other relevant findings. The tool will also guide the practitioner in confirming the physical findings, suggesting interventions to treat the deficiency and how to monitor the outcomes.

  7. Nutritional disorder of lettuce cv. Veronica in nutrient solution with suppressed macronutrients

    Directory of Open Access Journals (Sweden)

    Thiago Batista Firmato de Almeida

    2011-06-01

    Full Text Available Lettuce is the most popular of the leafy vegetables. It is known worldwide and its consumption occurs mainly in the natural form. The objective was to evaluate the effect of macronutrient omission on the growth and nutritional status of the lettuce cv. Veronica, and to describe the visual symptoms of nutritional deficiency. The treatments complete consisted of the solution and the individual omission of N, P, K, Ca, Mg and S, under a completely randomized design with three replications. Plants were grown in Hoagland & Arnon, in pots (8L. At 56 days after transplant we evaluated plant height, leaf number, leaf area, SPAD index, dry matter of shoots, roots and whole plant, levels of macronutrients in shoots and roots, and the nature of nutritional disorders. The omission of nutrients affected the growth variables. The nutrients found in lettuce plants from nutrient solution and the complete omission in the shoot were, respectively, N= 23.2 to 9.5, P= 5.4 to 1.3, K= 58,9 to 3.2, Ca= 12.1 to 3.6, Mg= 5.5 to 0.7 and S= 3.2 to 1.5g.kg-1. The omission of macronutrients caused quality losses, since it affected the nutrition of the vegetables and this resulted in morphological changes, reflected as symptoms of deficiency for each nutrient.

  8. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

    Laurberg, P; Nøhr, S B; Pedersen, K M

    2000-01-01

    Comparative epidemiologic studies in areas with low and high iodine intake and controlled studies of iodine supplementation have demonstrated that the major consequence of mild-to-moderate iodine deficiency for the health of the population is an extraordinarily high occurrence of hyperthyroidism...... endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine...... deficiency should be corrected. However, there is evidence that a high iodine intake may be associated with more autoimmune hypothyroidism, and that Graves' disease may manifest at a younger age and be more difficult to treat. Hence, the iodine intake should be brought to a level at which iodine deficiency...

  9. Ensuring effective prevention of iodine-deficiency disorders

    DEFF Research Database (Denmark)

    Völzke, Henry; Caron, Philippe Jean; Dahl, Lisbeth

    2016-01-01

    BACKGROUND: Programs initiated to prevent iodine deficiency disorders (IDD) may not remain effective due to changes in government policies, commercial factors, and human behavior that may affect the efficacy of IDD prevention programs in unpredictable directions. Monitoring and outcome studies...... by the lack of centralized standardization procedures. In addition, data on outcomes and the cost of achieving them are needed in order to provide evidence of the beneficial effects of IDD prevention in countries with mild iodine deficiency. CONCLUSION: Monitoring studies can be optimized by including...... in mildly iodine-deficient areas and that it should include populations from regions with different environmental, ethnic, and cultural backgrounds....

  10. Consensus statement on iodine deficiency disorders in Hong Kong.

    Science.gov (United States)

    But, Betty; Chan, C W; Chan, Fredriech; Chan, K W; Cheng, Anna W F; Cheung, Patrick; Choi, K L; Chow, C B; Chow, Francis C C; Eastman, Creswell; Fok, T F; Fung, L M; Gomes, Cynthia; Huen, K F; Ip, T P; Kung, Annie W C; Lam, Karen S L; Lam, Y Y; Lao, Terence; Lee, C Y; Lee, K F; Leung, Jenny; Leung, N K; Li, Dominic; Li, June; Lo, K W; Lo, Louis; Ng, K L; Siu, S C; Tam, Sidney; Tan, Kathryn C B; Tiu, S C; Tse, H Y; Tse, Winnie; Wong, Gary; Wong, Shell; Wong, William; Yeung, Vincent T F; Young, Rosie; Yu, C M; Yu, Richard

    2003-12-01

    This article reviews the available data on the study of iodine deficiency disorders in Hong Kong and to discuss the approach towards preventing such disorders in Hong Kong. The importance of iodine and iodine deficiency disorders is described, and the available data on the dietary iodine intake and urinary iodine concentration in different populations of Hong Kong are summarised and discussed. Dietary iodine insufficiency among pregnant women in Hong Kong is associated with maternal goitrogenesis and hypothyroxinaemia as well as neonatal hypothyroidism. Borderline iodine deficiency exists in the expectant mothers in Hong Kong. Women of reproductive age, and pregnant and lactating women should be made aware and educated to have an adequate iodine intake, such as iodised salt, as an interim measure. A steering group involving all stakeholders should be formed to advise on the strategy of ensuring adequate iodine intake, including universal iodisation of salt in Hong Kong. Continuous surveillance of iodine status in the Hong Kong population is necessary.

  11. Urea cycle disorder--argininosuccinic lyase deficiency.

    Science.gov (United States)

    Mehta, Neeta; Kirk, Pia Chatterjee; Holder, Ray; Precheur, Harry V

    2012-01-01

    An increased level of ammonia in the bloodstream, or hyperammonemia, is a symptom associated with metabolic disorders referred to as inborn errors of metabolism. Urea cycle disorder is a congenital abnormality or absence of one of the six enzymes involved in the elimination of ammonia. Administration of certain medications, high protein diet, excessive exercise, surgical procedures, or trauma can precipitate symptoms of mental confusion, seizure-like activity, and ataxia. This paper reviews the literature with insight into current treatment and management options of the disorder and modification of treatment for the dental patient. © 2012 Special Care Dentistry Association and Wiley Periodicals, Inc.

  12. Symptoms of nutritional deficiencies in neem plants cultivated in nutrient solution

    Directory of Open Access Journals (Sweden)

    Ronnky Chaell Braga da Silva

    2011-03-01

    Full Text Available The planting of forest species is an activity that, besides introducing new exotic types of plants, can lessen the environmental impacts resulting from extractivism. Nevertheless, such success depends, upon other factors, on the knowledge of the nutritional needs of the species to be used. This study intended to check the typical symptoms of nutritional deficiency of macronutrients in the culture of Neem, through the visual observation of the plants. The experiment was carried out in a greenhouse at the College of Agronomy and Veterinary Medicine (FAMEV of the Federal University of Mato Grosso (UFMT in Cuiabá/MT, and it was set up in randomized blocks, with seven treatments and three repetitions. Each experimental unit was represented by a plastic vase, two liters capacity. The treatments used were: complete nutritive solution and solution with the omission of the following nutrients: -N, -P, -K, -Ca, -Mg and -S. It was ascertained that the visual symptoms of nutrient deficiency were, as a general rule, of easy characterization except for the treatment with omission of sulphur. Therefore, the omission of macronutrients decreases the production of total dry matter of the Neem plants, except for the omission of the S nutrient.

  13. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

    Laurberg, P; Nøhr, S B; Pedersen, K M

    2000-01-01

    in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately...... endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine...

  14. Iron Deficiency in Preschool Children with Autistic Spectrum Disorders

    Science.gov (United States)

    Bilgic, Ayhan; Gurkan, Kagan; Turkoglu, Serhat; Akca, Omer Faruk; Kilic, Birim Gunay; Uslu, Runa

    2010-01-01

    Iron deficiency (ID) causes negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present…

  15. The challenge of the global elimination of iodine deficiency disorders.

    NARCIS (Netherlands)

    Haar, van der F.

    1997-01-01

    Most nations of the world are well positioned for success in their pursuit of the virtual elimination of iodine deficiency disorders (IDD) by the year 2000. In 1990 at the World Summit for Children, Heads of State and Government had agreed on this global goal and in 1992 at the International

  16. The Alleviation of Nutrient Deficiency Symptoms in Changbai Larch (Larix olgensis Seedlings by the Application of Exogenous Organic Acids

    Directory of Open Access Journals (Sweden)

    Jinfeng Song

    2016-09-01

    Full Text Available Exogenous organic acids are beneficial in protecting plants from the stress of heavy metal toxins (e.g., Pb in soils. This work focuses on the potential role of organic acids in protecting Changbai larch (Larix olgensis seedlings from the stress of growing in nutrient deficient soil. The seedlings were planted in a nutrient rich or deficient soil (A1 horizon of a Haplic Cambisol without organic acid as the nutrient rich control, or fully-mixed A1 + B horizons in a proportion of 1:2 as deficient in pots in a greenhouse. In A1 + B horizons the seedlings were treated daily with concentrations of oxalic or citric acid (OA or CA at a rate approximately equivalent to 0, 0.04, 0.2, 1.0, or 2.0 mmol·kg−1 of soil for 10, 20, and 30 days. Nutrient deficiency stressed the seedlings as indicated by lipid peroxidation and malondialdehyde (MDA content in leaves significantly increasing, and superoxide dismutase (SOD activities, proline, photosynthetic pigment contents, and chlorophyll fluorescence (Fv/Fm decreasing. The stress increased in controls over the application periods. When nutrient deficient plants were exposed to an organic acid (especially 5.0 or 10.0 mmol·L−1 for 20 days, the stress as indicated by the physiological parameters was reversed, and survival rate of seedlings, and biomass of root, stem, and leaf significantly increased; CA was more effective than OA. The results demonstrate that exogenous organic acids alleviate nutrient deficiency-induced oxidative injuries and improve the tolerance of L. olgensis seedlings to nutrient deficiency.

  17. Wheat cultivar tolerance to boron deficiency and toxicity in nutrient solution

    Directory of Open Access Journals (Sweden)

    Furlani Ângela Maria Cangiani

    2003-01-01

    Full Text Available Field symptoms of open spikelets in wheat were observed in specific cultivars and supposedly related to low B soils and differential B requirement among cultivars. This study aimed to evaluate the response of four wheat (Triticum aestivum L. cultivars, IAC 24, IAC 60, IAC 287 and IAC 289, to increasing B concentrations in nutrient solution. The experiment was set up in a randomized complete block design, with four replicates and five B concentrations (0.0, 0.05, 0.2, 0.8 and 2.0 mg L-1, during 1997/1998, in a greenhouse. Plants were grown to maturity and evaluated for plant height, spike number and length, open spikelet number, grains per spike, plant parts dry matter, B, P, K, Ca and Mg leaf concentrations and total nutrient contents. The visual symptoms of B deficiency consisted of open spikelets, distorted spikes without grains. 'IAC 60' and 'IAC 287' had higher B efficiency, with the highest grain yields in lower B concentrations. The 'IAC 287' and 'IAC 24' were more tolerant to the highest B concentrations. 'IAC 24' required more B for grain production as compared to the other cultivars. The critical leaf B concentration for deficiency was 25 mg kg-1 of dry matter tissue for all cultivars, and for toxicity were: 44 to 45 mg kg-1 for 'IAC 60' and 'IAC 289'; 228 and 318 mg kg-1 for 'IAC 24' and 'IAC 287', respectively. Except for the highest B level in the nutrient solution, the leaf P, K, Ca and Mg concentrations and whole plant contents were in an adequate range in the plants and did not vary among cultivars.

  18. Zinc deficiency is common in several psychiatric disorders.

    Directory of Open Access Journals (Sweden)

    Ole Grønli

    Full Text Available BACKGROUND: Mounting evidence suggests a link between low zinc levels and depression. There is, however, little knowledge about zinc levels in older persons with other psychiatric diagnoses. Therefore, we explore the zinc status of elderly patients suffering from a wide range of psychiatric disorders. METHODS: Clinical data and blood samples for zinc analyzes were collected from 100 psychogeriatric patients over 64 of age. Psychiatric and cognitive symptoms were assessed using the Montgomery and Aasberg Depression Rating Scale, the Cornell Scale for Depression in Dementia, the Mini-Mental State Examination, the Clockdrawing Test, clinical interviews and a review of medical records. In addition, a diagnostic interview was conducted using the Mini International Neuropsychiatric Interview instrument. The prevalence of zinc deficiency in patients with depression was compared with the prevalence in patients without depression, and the prevalence in a control group of 882 older persons sampled from a population study. RESULTS: There was a significant difference in zinc deficiency prevalence between the control group (14.4% and the patient group (41.0% (χ(2 = 44.81, df = 1, p<0.001. In a logistic model with relevant predictors, zinc deficiency was positively associated with gender and with serum albumin level. The prevalence of zinc deficiency in the patient group was significantly higher in patients without depression (i.e. with other diagnoses than in patients with depression as a main diagnosis or comorbid depression (χ(2 = 4.36, df = 1, p = 0.037. CONCLUSIONS: Zinc deficiency is quite common among psychogeriatric patients and appears to be even more prominent in patients suffering from other psychiatric disorders than depression. LIMITATIONS: This study does not provide a clear answer as to whether the observed differences represent a causal relationship between zinc deficiency and psychiatric symptoms. The blood sample collection time points

  19. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.

    Science.gov (United States)

    Aydin, Halil Ibrahim

    2018-01-15

    Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems. Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.

  20. Nutritional deficiencies and overweight prevalence among children with autism spectrum disorder.

    Science.gov (United States)

    Shmaya, Yael; Eilat-Adar, Sigal; Leitner, Yael; Reif, Shimon; Gabis, Lidia

    2015-03-01

    Children with autism spectrum disorder (ASD) are at risk of developing nutritional deviations. Three to six year old children with ASD were compared to their typically developing siblings and to a typically developing age and gender matched control group, in order to evaluate their intake and body mass index. Nutrient intake was compared to the Dietary Reference Intake using three-day diet diaries completed by the parents. The sum percentage of nutritional deficiencies in the ASD group compared to the typical development group was 342.5% (±122.9%) vs. 275.9% (±106.8%), respectively (P=0.026). A trend toward higher deficiency in the ASD group was observed as compared to the sibling group 363% (±122.9%) vs. 283.2% (±94.7%) (P=0.071). A higher body mass index was found in the ASD group compared to their counterparts, despite their nutritional deficiencies. In conclusion, children with ASD are more likely to suffer from nutritional deficiencies despite higher body mass index. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. [Roles of organic acid metabolism in plant adaptation to nutrient deficiency and aluminum toxicity stress].

    Science.gov (United States)

    Wang, Jianfei; Shen, Qirong

    2006-11-01

    Organic acids not only act as the intermediates in carbon metabolism, but also exert key roles in the plant adaptation to nutrient deficiency and metal stress and in the plant-microbe interactions at root-soil interface. From the viewpoint of plant nutrition, this paper reviewed the research progress on the formation and physiology of organic acids in plant, and their functions in nitrogen metabolism, phosphorus and iron uptake, aluminum tolerance, and soil ecology. New findings in the membrane transport of organic acids and the biotechnological manipulation of organic acids in transgenic model were also discussed. This novel perspectives of organic acid metabolism and its potential manipulation might present a possibility to understand the fundamental aspects of plant physiology, and lead to the new strategies to obtain crop varieties better adapted to environmental and metal stress.

  2. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Amelia Villagomez

    2014-09-01

    Full Text Available Attention-Deficit/Hyperactivity Disorder (ADHD is a neurodevelopmental disorder increasing in prevalence. Although there is limited evidence to support treating ADHD with mineral/vitamin supplements, research does exist showing that patients with ADHD may have reduced levels of vitamin D, zinc, ferritin, and magnesium. These nutrients have important roles in neurologic function, including involvement in neurotransmitter synthesis. The aim of this paper is to discuss the role of each of these nutrients in the brain, the possible altered levels of these nutrients in patients with ADHD, possible reasons for a differential level in children with ADHD, and safety and effect of supplementation. With this knowledge, clinicians may choose in certain patients at high risk of deficiency, to screen for possible deficiencies of magnesium, vitamin D, zinc, and iron by checking RBC-magnesium, 25-OH vitamin D, serum/plasma zinc, and ferritin. Although children with ADHD may be more likely to have lower levels of vitamin D, zinc, magnesium, and iron, it cannot be stated that these lower levels caused ADHD. However, supplementing areas of deficiency may be a safe and justified intervention.

  3. Effects of Nutrient Deficiencies in Corn Plants on the In Vivo and In Vitro Metabolism of [14C] Diazinon

    International Nuclear Information System (INIS)

    Kunstman, J.L.; Lichtenstein, E.P.

    1981-01-01

    Full text: The effects of calcium, nitrogen, and magnesium deficiencies on the penetration, translocation, and the in vivo and in vitro metabolism of the insecticide [ 14 C] diazinon (diethyl-2-isopropyl-6-methyl-4-pyrimidinyl) in corn plants were investigated. On a per gram fresh weight basis only roots from nitrogen-deficient solutions contained less C while tops from plants grown in calcium-deficient solutions contained nearly four times more radiocarbon than those from complete nutrient solutions. Due to calcium or nitrogen deficiencies a reduced degradation occurred in roots as indicated by the relatively higher recoveries of diazinon and the lower recoveries of an unidentified, more polar 14 C-ring compound. No differencies in [ 14 C] diazinon degradation due to nutrient deficiencies were noticeable with corn tops. The metabolic activity of corn roots was due to a soluble enzyme. In studies with subcellular components from roots, specific activities increased from the homogenate (4.09%/mg of protein) to the 105000 g supernatant (7.77%/mg of protein). Subcellular components from calcium-deficient roots produced significantly less water-soluble radiocarbon (sp act., 0.60) than did control roots (sp act., 1.60), results similar to those observed with in vivo experiments. However, the 10000 g supernatant from root material deficient in nitrogen produced significantly more water—soluble radiocarbon (sp act., 2.85) than subcellular fractions from control roots. (author)

  4. Successful efforts toward elimination iodine deficiency disorders in India

    Directory of Open Access Journals (Sweden)

    Kapil Umesh

    2010-01-01

    Full Text Available Iodine deficiency (ID is the world′s single most important preventable cause of brain damage and mental retardation. Iodine deficiency disorders (IDDs is a public health problem in 130 countries, affecting 13% of the world population. The simplest solution to prevent the IDD is to consume iodized common salt every day. In India, significant progress has been achieved toward elimination of IDD, in the last 30 years. Satisfactory levels of urinary iodine excretion and iodine content of salt have been documented by the research surveys conducted by research scientists. The results indicate that we are progressing toward elimination of IDD. IDD is due to a nutritional deficiency, which is prima-rily that of iodine, in soil and water. IDD is known to re-appear if the IDD Control Program is not sustained. To ensure that the population continues to have intake of adequate amount of iodine, there is a need of i periodic surveys to assess the magnitude of the IDD with respect to impact of iodized salt (IS intervention; ii strengthening the health and nutrition education activities to create demand for IS and iii development of a monitoring information system (MIS for ensuring that the adequately IS is available to the beneficiaries.

  5. Sintomas visuais de deficiências nutricionais em pinhão-manso Visual symptoms of nutrient deficiency in physic nut

    Directory of Open Access Journals (Sweden)

    Enilson de Barros Silva

    2009-04-01

    Full Text Available O objetivo deste trabalho foi avaliar o crescimento e caracterizar os sintomas de deficiências de macro e micronutrientes em mudas de pinhão-manso (Jatropha curcas. As mudas foram cultivadas em solução nutritiva completa e, também, em soluções com omissão de N, P, K, Ca, Mg, S, B, Cu, Fe, Mn ou Zn, pelo uso da técnica do elemento faltante. Foram avaliados os sintomas visuais de deficiência de nutrientes e a massa de matéria seca da parte aérea e das raízes, respectivamente aos 90 e 120 dias após a aplicação dos tratamentos. As omissões de macro e micronutrientes provocaram sintomas visuais de deficiência nutricional comuns a outras espécies. As deficiências limitaram a produção de massa de matéria seca na seguinte ordem: Ca>Mg>K>N>P>S, para macronutrientes; e Fe>Cu>Zn>Mn>B, para micronutrientes.The objectives of this work were to evaluate the growth of physic nut (Jatropha curcas and to characterize visual symptoms of macro and micronutrient deficiencies in seedlings. The seedlings were cultivated in nutritive solution containing all required macro and micronutrients and in solutions with omission of N, P, K, Ca, Mg, S, B, Cu, Fe, Mn or Zn, using the missing element technique. Visual deficiency symptoms and seedlings dry weight were evaluated at 90 and 120 days after treatments, respectively. The absences of macro and micronutrients in physic nut caused in nutritional deficiency visual symptoms known to other species. The deficiencies restricted the dry matter production according to the following order: Ca>Mg>K>N>P>S, for macronutrients, and Fe>Cu>Zn>Mn>B, for micronutrients.

  6. STUDY ABOUT THE INCIDENCE OF HEARING-SPEAKING DISORDERS IN A POPULATION WITH MENTAL DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Ioana Mihaela Tomulescu

    2003-01-01

    Full Text Available This study is about the incidence of hearing-speaking disorders in a population with mental deficiency. We studied 596 children interned in Neurology and Psychiatry Clinical Hospital of Oradea during the 1999 - 2001 period. In 596 children, 393 presented different types of mental deficiency. The most frequent disorders observed are hearing loss or deafness, deaf-mutism, mutism and speaking retardation. Also, we related an increased frequency in rural area and in group of children with severe mental deficiency.

  7. Nutrient intake in an elderly population in southern France (POLANUT): deficiency in some vitamins, minerals and omega-3 PUFA. : Nutrient deficiency in a French aged population.

    OpenAIRE

    Carrière, Isabelle; Delcourt, Cécile; Lacroux, Annie; Gerber, Mariette

    2007-01-01

    OBJECTIVE: Evaluation of the nutritional status of an elderly cohort from a French Mediterranean area. DESIGN: Cross-sectional nutritional assessment in the framework of the population-based POLA cohort. SUBJECTS AND METHODS: 832 subjects aged 70 years or older answered a 165-item, semi-quantitative food frequency questionnaire. Mean Nutritional Need (MNN) was defined as 77% of the French Recommended Daily Allowance (RDA). The risk for clinical deficiency (CD) was defined as intakes lower tha...

  8. Prevalence of Vitamin D Deficiency in Adult Outpatients With Bipolar Disorder or Schizophrenia.

    Science.gov (United States)

    Boerman, Remco; Cohen, Dan; Schulte, Peter F J; Nugter, Annet

    2016-12-01

    Several studies show an association between schizophrenia and low levels of vitamin D. To date, there are only few studies about the prevalence of vitamin D deficiency in patients with bipolar disorder. We hypothesized that vitamin D deficiency is less common among patients with bipolar disorder than among patients with schizophrenia or schizoaffective disorder. A second hypothesis is that vitamin D deficiency is more prevalent among patients with schizophrenia, schizoaffective disorder, or bipolar disorders than among the general Dutch population.Most studies have been conducted with hospitalized patients; in this study, we only included outpatients. All outpatients of a center for bipolar disorders and all outpatients of 3 flexible assertive community treatment teams were asked to participate in this cross-sectional study. We included 118 patients with bipolar disorder and 202 patients with schizophrenia or schizoaffective disorder. Vitamin D levels were deficient in 30.3% (95% confidence interval, 25.5-35.6) of the cases. The type of psychiatric disorder was not a predictor of vitamin D deficiency. The absolute difference in risk of deficiency between the study population and the Dutch Caucasian population was 23.8% (95% confidence interval, 18.3%-29.3%). In this study, vitamin D deficiency was 4.7 times more common among outpatients with bipolar disorder, schizophrenia, or schizoaffective disorder than among the Dutch general population.Given the high prevalence of vitamin D deficiency, we believe that outpatients with bipolar disorder, schizophrenia, or schizoaffective disorder should be considered at risk of having low levels of vitamin D. Annual measurement of vitamin D levels in psychiatric outpatients with these disorders seems to be justified to maintain bone health, muscle strength, and to prevent osteoporosis.

  9. Deficient fear extinction memory in posttraumatic stress disorder.

    Science.gov (United States)

    Wicking, Manon; Steiger, Frauke; Nees, Frauke; Diener, Slawomira J; Grimm, Oliver; Ruttorf, Michaela; Schad, Lothar R; Winkelmann, Tobias; Wirtz, Gustav; Flor, Herta

    2016-12-01

    Posttraumatic stress disorder (PTSD) might be maintained by deficient extinction memory. We used a cued fear conditioning design with extinction and a post-extinction phase to provoke the return of fear and examined the role of the interplay of amygdala, hippocampus and prefrontal regions. We compared 18 PTSD patients with two healthy control groups: 18 trauma-exposed subjects without PTSD (nonPTSD) and 18 healthy controls (HC) without trauma experience. They underwent a three-day ABC-conditioning procedure in a functional magnetic resonance imaging scanner. Two geometric shapes that served as conditioned stimuli (CS) were presented in the context of virtual reality scenes. Electric painful stimuli were delivered after one of the two shapes (CS+) during acquisition (in context A), while the other (CS-) was never paired with pain. Extinction was performed in context B and extinction memory was tested in a novel context C. The PTSD patients showed significantly higher differential skin conductance responses than the non-PTSD and HC and higher differential amygdala and hippocampus activity than the HC in context C. In addition, elevated arousal to the CS+ during extinction and to the CS- throughout the experiment was present in the PTSD patients but self-reported differential valence or contingency were not different. During extinction recall, differential amygdala activity correlated positively with the intensity of numbing and ventromedial prefrontal cortex activity correlated positively with behavioral avoidance. PTSD patients show heightened return of fear in neural and peripheral measures. In addition, self-reported arousal was high to both danger (CS+) and safety (CS-) cues. These results suggest that a deficient maintenance of extinction and a failure to identify safety signals might contribute to PTSD symptoms, whereas non-PTSD subjects seem to show normal responses. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Vision based nutrient deficiency classification in maize plants using multi class support vector machines

    Science.gov (United States)

    Leena, N.; Saju, K. K.

    2018-04-01

    Nutritional deficiencies in plants are a major concern for farmers as it affects productivity and thus profit. The work aims to classify nutritional deficiencies in maize plant in a non-destructive mannerusing image processing and machine learning techniques. The colored images of the leaves are analyzed and classified with multi-class support vector machine (SVM) method. Several images of maize leaves with known deficiencies like nitrogen, phosphorous and potassium (NPK) are used to train the SVM classifier prior to the classification of test images. The results show that the method was able to classify and identify nutritional deficiencies.

  11. Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

    Science.gov (United States)

    Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

    2013-01-01

    Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

  12. Reward deficiency syndrome: genetic aspects of behavioral disorders.

    Science.gov (United States)

    Comings, D E; Blum, K

    2000-01-01

    The dopaminergic and opioidergic reward pathways of the brain are critical for survival since they provide the pleasure drives for eating, love and reproduction; these are called 'natural rewards' and involve the release of dopamine in the nucleus accumbens and frontal lobes. However, the same release of dopamine and production of sensations of pleasure can be produced by 'unnatural rewards' such as alcohol, cocaine, methamphetamine, heroin, nicotine, marijuana, and other drugs, and by compulsive activities such as gambling, eating, and sex, and by risk taking behaviors. Since only a minority of individuals become addicted to these compounds or behaviors, it is reasonable to ask what factors distinguish those who do become addicted from those who do not. It has usually been assumed that these behaviors are entirely voluntary and that environmental factors play the major role; however, since all of these behaviors have a significant genetic component, the presence of one or more variant genes presumably act as risk factors for these behaviors. Since the primary neurotransmitter of the reward pathway is dopamine, genes for dopamine synthesis, degradation, receptors, and transporters are reasonable candidates. However, serotonin, norepinephrine, GABA, opioid, and cannabinoid neurons all modify dopamine metabolism and dopamine neurons. We have proposed that defects in various combinations of the genes for these neurotransmitters result in a Reward Deficiency Syndrome (RDS) and that such individuals are at risk for abuse of the unnatural rewards. Because of its importance, the gene for the [figure: see text] dopamine D2 receptor was a major candidate gene. Studies in the past decade have shown that in various subject groups the Taq I A1 allele of the DRD2 gene is associated with alcoholism, drug abuse, smoking, obesity, compulsive gambling, and several personality traits. A range of other dopamine, opioid, cannabinoid, norepinephrine, and related genes have since been

  13. Prevalence of Iodine deficiency disorder in a highland district in Tigray

    African Journals Online (AJOL)

    Preferred Customer

    , Ethiopia. Brief Communication. Prevalence of Iodine deficiency disorder in a highland district in Tigray. Teklay Kidane1, Aregai Woldegebriel2. Abstract. A cross-sectional community based goiter prevalence survey was conducted in February ...

  14. Association between vitamin deficiency and metabolic disorders related to obesity.

    Science.gov (United States)

    Thomas-Valdés, Samanta; Tostes, Maria das Graças V; Anunciação, Pamella C; da Silva, Bárbara P; Sant'Ana, Helena M Pinheiro

    2017-10-13

    Inappropriate food behavior contributes to obesity and leads to vitamin deficiency. This review discusses the nutritional status of water- and fat-soluble vitamins in obese subjects. We verified that most vitamins are deficient in obese individuals, especially the fat-soluble vitamins, folic acid, vitamin B 12 and vitamin C. However, some vitamins have been less evaluated in cases of obesity. The adipose tissue is considered a metabolic and endocrine organ, which in excess leads to changes in body homeostasis, as well as vitamin deficiency which can aggravate the pathological state. Therefore, the evaluation of vitamin status is of fundamental importance in obese individuals.

  15. Association of some specific nutrient deficiencies with periodontal disease in elderly people: A systematic literature review.

    NARCIS (Netherlands)

    Putten, G.J. van der; Vanobbergen, J.N.; Visschere, L. De; Schols, J.G.J.H.; Baat, C. de

    2009-01-01

    OBJECTIVE: Deficiency of vitamin B complex, vitamin C, vitamin D, calcium, and magnesium has been associated with periodontal disease. This article systematically reviews the currently available literature on the feasible association of vitamin B complex, vitamin C, vitamin D, calcium, and magnesium

  16. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy....... Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...... that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. In our study, rapid eye movement sleep behaviour disorder was diagnosed by the International Classification of Sleep Disorders (2nd edition) criteria in 63 narcolepsy patients with or without...

  17. Soluble transferrin receptor: a differentiating marker between iron deficiency anaemia and anaemia of chronic disorders

    International Nuclear Information System (INIS)

    Saboor, M.; Moinuddin, A.; Naureen, A.

    2012-01-01

    Background: Iron deficiency anaemia and anaemia of chronic disorders are the two major causes of microcytic and hypochromic anaemia. Many times the diagnosis of these conditions becomes difficult through conventional laboratory tests. Determination of soluble transferrin receptors is a helpful laboratory test for the differential diagnosis of these conditions. The study was conducted to evaluate the role of soluble transferrin receptors in the differential diagnosis between iron deficiency anaemia and anaemia of chronic disorders. Methods: A total of 80 blood samples were evaluated, i.e., 20 samples from normal adult male, 20 samples from normal adult female, 20 samples from iron deficiency anaemia group and 20 samples from patients with anaemia of chronic disorders. Soluble transferrin receptors were determined by ELISA technique using Quantikine IVD kit (R and D Systems). Results: There was significant difference in the levels of sTfR in iron deficiency anaemia and anaemia of chronic disorders. Statistically non-significant difference was observed between the levels of sTfR in patients with anaemia of chronic disorders as compared to normal control group. Conclusion: The sTfR determination can be used as a reliable differentiating marker in the diagnosis of iron deficiency anaemia and anaemia of chronic disorders. (author)

  18. Impact on infants' cognitive development of antenatal exposure to iron deficiency disorder and common mental disorders.

    Directory of Open Access Journals (Sweden)

    Thach Duc Tran

    Full Text Available OBJECTIVES: The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA and common mental disorders (CMD on cognitive development of 6 months old infants in a developing country. METHODS: A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12-20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb 30 years and primiparity had an indirect adverse effect on infants' Bayley cognitive scores. CONCLUSIONS: These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries.

  19. Suppressed translation as a mechanism of initiation of CASP8 (caspase 8)-dependent apoptosis in autophagy-deficient NSCLC cells under nutrient limitation.

    Science.gov (United States)

    Allavena, Giulia; Cuomo, Francesca; Baumgartner, Georg; Bele, Tadeja; Sellgren, Alexander Yarar; Oo, Kyaw Soe; Johnson, Kaylee; Gogvadze, Vladimir; Zhivotovsky, Boris; Kaminskyy, Vitaliy O

    2018-01-01

    Macroautophagy/autophagy inhibition under stress conditions is often associated with increased cell death. We found that under nutrient limitation, activation of CASP8/caspase-8 was significantly increased in autophagy-deficient lung cancer cells, which precedes mitochondria outer membrane permeabilization (MOMP), CYCS/cytochrome c release, and activation of CASP9/caspase-9, indicating that under such conditions the activation of CASP8 is a primary event in the initiation of apoptosis as well as essential to reduce clonogenic survival of autophagy-deficient cells. Starvation leads to suppression of CFLAR proteosynthesis and accumulation of CASP8 in SQSTM1 puncta. Overexpression of CFLARs reduces CASP8 activation and apoptosis during starvation, while its silencing promotes efficient activation of CASP8 and apoptosis in autophagy-deficient U1810 lung cancer cells even under nutrient-rich conditions. Similar to starvation, inhibition of protein translation leads to efficient activation of CASP8 and cell death in autophagy-deficient lung cancer cells. Thus, here for the first time we report that suppressed translation leads to activation of CASP8-dependent apoptosis in autophagy-deficient NSCLC cells under conditions of nutrient limitation. Our data suggest that targeting translational machinery can be beneficial for elimination of autophagy-deficient cells via the CASP8-dependent apoptotic pathway.

  20. Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs).

    Science.gov (United States)

    Bala, Keziban Aslı; Doğan, Murat; Kaba, Sultan; Mutluer, Tuba; Aslan, Oktay; Doğan, Sekibe Zehra

    2016-09-01

    The aim of this study was to analyze thyroid hormones and antibodies, ferritin, vitamins B12 and D, adrenal and gonadal steroid levels, and celiac antibodies in children diagnosed with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Between February 2014 and July 2014, a total of 77 children and adolescents (31 girls, 46 boys) who were admitted to the Van Training and Research Hospital were included in the study. The study population was divided into three groups including ADHD (n=34), ASD (n=16), and age- and sex-matched healthy controls (n=27). The diagnosis of ADHD was made on the basis of Diagnostic and Statistical Manual of Mental Disorders - Fifth Edition (DSM-5) and DSM-4 Turkish version with the diagnostic interview and Disruptive Behavior Disorder Rating Scale (DBDRS). The diagnosis of ASD was based on the DSM-4 and DSM-5 Turkish version with the diagnostic interview and the Childhood Autism Rating Scale (CARS). The blood samples were obtained between 8:00 and 9:00 A.M. There was a statistically significant difference in vitamin B12 and D levels and ferritin values among the three groups. The ASD group had the highest ferritin and the lowest vitamins B12 and D levels. Vitamin D levels of the ADHD group were significantly lower compared to the healthy controls. Our study results highlight the importance of supplementation of vitamins B12 and D in the ASD and ADHD patients.

  1. [Nutritional assessment of gluten-free diet. Is gluten-free diet deficient in some nutrient?].

    Science.gov (United States)

    Salazar Quero, J C; Espín Jaime, B; Rodríguez Martínez, A; Argüelles Martín, F; García Jiménez, R; Rubio Murillo, M; Pizarro Martín, A

    2015-07-01

    The gluten-free diet has traditionally been accepted as a healthy diet, but there are articles advocating that it may have some nutritional deficiencies. The current study assesses whether there was any change in the contributions of calories, essential elements, proportion of fatty acids, vitamins, minerals and fiber in children who were diagnosed with celiac diseases, comparing the diet with gluten prior one year after diagnosis with the diet without gluten to the year of diagnosis. The level of clinical or analytical impact that nutritional deficits could have was also assessed. A prospective,descriptive, observational study in which information was collected from a dietary survey, anthropometric and analytical data at pre-diagnosis of celiac disease and following a gluten diet and one year after celiac disease diagnosis, under gluten-free diet. A total of 37 patients meet the study criteria. A decrease in the intake of saturated fatty acids was found, with an increase of monounsaturated fatty acids and an increase in the intake of phosphorus in the diet without gluten. A deficient intake of vitamin D was found in both diets. Clinically, at year of gluten-free diet there was an improvement in weight and size. Analytically, there was an improvement in hemoglobin, ferritin, vitamin D, and parathyroid hormone in plasma. The gluten-free diet has minimal deficiencies, similar to those present in the diet with gluten, with an improvement in the lipid profile by increasing the proportion of monounsaturated fatty acids to the detriment of saturated fatty acids. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  2. Past, present, and future of iodine deficiency disorders in India: Need to look outside the blinkers

    Directory of Open Access Journals (Sweden)

    Gurmeet Kaur

    2017-01-01

    Full Text Available Iodine deficiency disorders (IDDs have been recognized as one of the major nutritional disorders throughout the world affecting 200 million people who are at risk and another 71 million suffering from goiter and other IDDs. These groups of disorders can affect every stage of life, but most vulnerable age group is between 6 and 12 years and these disorders together constitute the single largest preventable cause of brain damage leading to learning disabilities and psychomotor impairment. The existence of endemic goiter in an extensive belt along the southern slopes of the Himalayas, Alps, and Andes has long been described, but consistently high prevalence of IDDs outside the endemic zones and failure to attain goals set by the National Iodine Deficiency Disorder Control Program questions the strategy and achievements till date. Therefore, the present article is an attempt to critically examine the program since inception in India.

  3. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    variables were analysed in relation to cataplexy and hypocretin deficiency with uni- and multivariate logistic/linear regression models, controlling for possible rapid eye movement sleep behaviour disorder biasing factors (age, gender, disease duration, previous anti-cataplexy medication). Only hypocretin......Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy....... Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...

  4. Neuronal glucose transporter isoform 3 deficient mice demonstrate features of autism spectrum disorders.

    Science.gov (United States)

    Zhao, Y; Fung, C; Shin, D; Shin, B-C; Thamotharan, S; Sankar, R; Ehninger, D; Silva, A; Devaskar, S U

    2010-03-01

    Neuronal glucose transporter (GLUT) isoform 3 deficiency in null heterozygous mice led to abnormal spatial learning and working memory but normal acquisition and retrieval during contextual conditioning, abnormal cognitive flexibility with intact gross motor ability, electroencephalographic seizures, perturbed social behavior with reduced vocalization and stereotypies at low frequency. This phenotypic expression is unique as it combines the neurobehavioral with the epileptiform characteristics of autism spectrum disorders. This clinical presentation occurred despite metabolic adaptations consisting of an increase in microvascular/glial GLUT1, neuronal GLUT8 and monocarboxylate transporter isoform 2 concentrations, with minimal to no change in brain glucose uptake but an increase in lactate uptake. Neuron-specific glucose deficiency has a negative impact on neurodevelopment interfering with functional competence. This is the first description of GLUT3 deficiency that forms a possible novel genetic mechanism for pervasive developmental disorders, such as the neuropsychiatric autism spectrum disorders, requiring further investigation in humans.

  5. Light deficiency confers breast cancer risk by endocrine disorders.

    Science.gov (United States)

    Suba, Zsuzsanna

    2012-09-01

    North-America and northern European countries exhibit the highest incidence rate of breast cancer, whereas women in southern regions are relatively protected. Immigrants from low cancer incidence regions to high-incidence areas might exhibit similarly higher or excessive cancer risk as compared with the inhabitants of their adoptive country. Additional cancer risk may be conferred by incongruence between their biological characteristics and foreign environment. Many studies established the racial/ethnic disparities in the risk and nature of female breast cancer in United States between African-American and Caucasian women. Mammary tumors in black women are diagnosed at earlier age, and are associated with higher rate of mortality as compared with cancers of white cases. Results of studies on these ethnic/racial differences in breast cancer incidence suggest that excessive pigmentation of dark skinned women results in a relative light-deficiency. Poor light exposure may explain the deleterious metabolic and hormonal alterations; such as insulin resistance, deficiencies of estrogen, thyroxin and vitamin-D conferring excessive cancer risk. The more northern the location of an adoptive country the higher the cancer risk for dark skinned immigrants. Recognition of the deleterious systemic effects of darkness and excessive melatonin synthesis enables cancer protection treatment for people living in light-deficient environment. Recent patents provide new methods for the prevention of hormonal and metabolic abnormities.

  6. Lead phytotoxicity in soils and nutrient solutions is related to lead induced phosphorus deficiency

    International Nuclear Information System (INIS)

    Cheyns, Karlien; Peeters, Sofie; Delcourt, Dorien; Smolders, Erik

    2012-01-01

    This study was set up to relate lead (Pb) bioavailability with its toxicity to plants in soils. Tomato and barley seedlings were grown in six different PbCl 2 spiked soils (pH: 4.7–7.4; eCEC: 4.2–41.7 cmol c /kg). Soils were leached and pH corrected after spiking to exclude confounding factors. Plant growth was halved at 1600–6500 mg Pb/kg soil for tomato and at 1900–8300 mg Pb/kg soil for barley. These soil Pb threshold were unrelated to soil pH, organic carbon, texture or eCEC and neither soil solution Pb nor Pb 2+ ion activity adequately explained Pb toxicity among soils. Shoot phosphorus (P) concentrations significantly decreased with increasing soil Pb concentrations. Tomato grown in hydroponics at either varying P supply or at increasing Pb (equal initial P) illustrated that shoot P explained growth response in both scenarios. The results suggest that Pb toxicity is partially related to Pb induced P deficiency, likely due to lead phosphate precipitation. - Highlights: ► Tomato and barley shoot growth was affected by Pb toxicity in six different soils. ► Soil properties did not explain differences in plant Pb toxicity among soils. ► Neither soil solution Pb nor Pb 2+ ion activity explained Pb toxicity among soils. ► Shoot phosphorus concentration decreased with increasing soil Pb concentrations. ► Lead induced a P deficiency in plants, likely due to lead phosphate precipitation. - Soil properties did not explain differences in plant lead toxicity among different soils. Shoot phosphorus concentration decreased with increasing soil lead concentrations.

  7. Dopaminergic Neurogenetics of Sleep Disorders in Reward Deficiency Syndrome (RDS).

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Badgaiyan, Rajendra D; Khurshid, Khurshid A; Gold, Mark S

    2014-02-18

    It is well-known that sleep has a vital function especially as it relates to prevention of substance-related disorders as discussed in the DSM-V. We are cognizant that certain dopaminergic gene polymorphisms have been associated with various sleep disorders. The importance of "normal dopamine homeostasis" is tantamount for quality of life especially for the recovering addict. Since it is now know that sleep per se has been linked with metabolic clearance of neurotoxins in the brain, it is parsonomiuos to encourage continued research in sleep science, which should ultimately result in attenuation of sleep deprivation especially associated with substance related disorders.

  8. Liming and fertilisation in Pinus taeda plantations with severe nutrient deficiency in savanna soils

    Directory of Open Access Journals (Sweden)

    Araína Hulmann Batista

    2014-11-01

    Full Text Available Soils with high acidity and low exchangeable bases may be responsible for low yields of Pinus taeda in a forest plantation at Jaguariaíva, Paraná State, Brazil. The aim of this study was to evaluate the effect of liming and fertilisation, applied over litter, on two selected areas with Pinus taeda plantations. Soil, litter and pine needles were evaluated for K, Ca and Mg concentrations and soil acidity parameters. Seven treatments were applied: (i complete (N, P, K, Zn, Cu, B, Mo, and lime; (ii without N, P, and K; (iii without Zn, Cu, B, and Mo; (iv without K; (v without Zn; (vi without lime; and (vii control (without nutrients and lime. Soil samples were collected at five soil depths (0-5, 5-10, 10-20, 20-40 and 40-60 cm simultaneously with litter samples. Needles were also collected from the first and second pine flushes. Liming induced soil pH, Ca2+, and Mg2+ increases, and the opposite was observed for Al3+ and Al saturation. Fertilisation increased soil exchangeable K+ concentrations and needle and litter K concentrations. The low Ca and Mg concentrations found in the plant needles might be attributable to their low mobility.

  9. Steroid sulfatase-deficient mice exhibit endophenotypes relevant to Attention Deficit Hyperactivity Disorder

    OpenAIRE

    Trent, Simon; Dennehy, Alison; Richardson, Heather; Ojarikre, Obah A.; Burgoyne, Paul S.; Humby, Trevor; Davies, William

    2012-01-01

    Summary Attention Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental condition characterised by inattention, impulsivity and hyperactivity; it is frequently co-morbid with anxiety and conduct disorders, sleep perturbation and abnormal consummatory behaviours. Recent studies have implicated the neurosteroid-modulating enzyme steroid sulfatase (STS) as a modulator of ADHD-related endophenotypes. The effects of steroid sulfatase deficiency on homecage activity, feeding/drinking...

  10. Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

    Science.gov (United States)

    O'Rourke, Declan J; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D

    2009-05-01

    Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imaging, and treatment data of two female siblings (18y and 13y) with an unusual phenotype of GAMT deficiency. The oldest sibling had subacute onset of a movement disorder at age 17 years, later than has been previously reported. The younger sibling had better language skills than previously described in this disorder. After treatment with creatine, arginine restriction and ornithine-supplemented diet, seizure severity and movement disorder were reduced but cognition did not improve. This report confirms that GAMT deficiency, a heterogeneous, potentially treatable disorder, detected by increased levels of guanidinoacetate in body fluids (e.g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy.

  11. Impact on infants' cognitive development of antenatal exposure to iron deficiency disorder and common mental disorders.

    Science.gov (United States)

    Tran, Thach Duc; Biggs, Beverley-Ann; Tran, Tuan; Simpson, Julie Anne; Hanieh, Sarah; Dwyer, Terence; Fisher, Jane

    2013-01-01

    The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA) and common mental disorders (CMD) on cognitive development of 6 months old infants in a developing country. A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12-20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb cognitive development was assessed by Bayley Scales of Infant and Toddler Development, 3rd Ed. Path analyses were performed to determine the direct and indirect, partly or fully mediated, causal effects of the antenatal exposures. A total of 497 pregnant women were recruited, of those 378 women provided complete data which were included in the analyses. Statistically significant direct adverse effects of persistent antenatal IDA (estimated difference of -11.62 points; 95% CI -23.01 to -0.22) and antenatal CMD (-4.80 points; 95% CI: -9.40 to -0.20) on infant Bayley cognitive scores at six months were found. Higher birthweight, household wealth, and self-rated sufficient supply of breastmilk were associated with higher cognitive scores. Maternal age >30 years and primiparity had an indirect adverse effect on infants' Bayley cognitive scores. These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries.

  12. Impact on Infants’ Cognitive Development of Antenatal Exposure to Iron Deficiency Disorder and Common Mental Disorders

    Science.gov (United States)

    Tran, Thach Duc; Biggs, Beverley-Ann; Tran, Tuan; Simpson, Julie Anne; Hanieh, Sarah; Dwyer, Terence; Fisher, Jane

    2013-01-01

    Objectives The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA) and common mental disorders (CMD) on cognitive development of 6 months old infants in a developing country. Methods A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12–20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb cognitive development was assessed by Bayley Scales of Infant and Toddler Development, 3rd Ed. Path analyses were performed to determine the direct and indirect, partly or fully mediated, causal effects of the antenatal exposures. Results A total of 497 pregnant women were recruited, of those 378 women provided complete data which were included in the analyses. Statistically significant direct adverse effects of persistent antenatal IDA (estimated difference of −11.62 points; 95% CI −23.01 to −0.22) and antenatal CMD (−4.80 points; 95% CI: −9.40 to −0.20) on infant Bayley cognitive scores at six months were found. Higher birthweight, household wealth, and self-rated sufficient supply of breastmilk were associated with higher cognitive scores. Maternal age >30 years and primiparity had an indirect adverse effect on infants’ Bayley cognitive scores. Conclusions These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries. PMID:24086390

  13. Iodine deficiency status and iodised salt consumption in Malaysia: findings from a national iodine deficiency disorders survey.

    Science.gov (United States)

    Selamat, Rusidah; Mohamud, Wan Nazaimoon Wan; Zainuddin, Ahmad Ali; Rahim, Nor Syamlina Che Abdul; Ghaffar, Suhaila Abdul; Aris, Tahir

    2010-01-01

    A nationwide cross-sectional school-based survey was undertaken among children aged 8-10 years old to determine the current iodine deficiency status in the country. Determination of urinary iodine (UI) and palpation of the thyroid gland were carried out among 18,012 and 18,078 children respectively while iodine test of the salt samples was done using Rapid Test Kits and the iodometric method. The results showed that based on WHO/ ICCIDD/UNICEF criteria, the national median UI was 109 μg/L [25th, 75th percentile (67, 166)] showing borderline adequacy. The overall national prevalence of iodine deficiency disorders (IDD) with UIMalaysia using adequately iodised salt as recommended by Malaysian Food Act 1983 of 20-30 ppm was only 6.8% (95% CI: 5.1, 9.0). In conclusion, although a goitre endemic was not present in Malaysia, almost half of the states in Peninsular Malaysia still have large proportion of UI level review on the current approach of the national IDD prevention and control programme.

  14. Vitamin C deficiency exerts paradoxical cardiovascular effects in osteogenic disorder Shionogi (ODS) rats.

    Science.gov (United States)

    Vergely, Catherine; Goirand, Françoise; Ecarnot-Laubriet, Aline; Renard, Céline; Moreau, Daniel; Guilland, Jean-Claude; Dumas, Monique; Rochette, Luc

    2004-04-01

    Vitamin C is considered to be a very efficient water-soluble antioxidant, for which several new cardiovascular properties were recently described. The aim of this study was to determine in vivo the effects of a severe depletion of vitamin C on cardiac and vascular variables and reperfusion arrhythmias. For this purpose, we used a mutant strain of Wistar rats, osteogenic disorder Shionogi (ODS). After 15 d of consuming a vitamin C-deficient diet, ODS rats had a 90% decrease in plasma and tissue levels of ascorbate compared with ODS vitamin C-supplemented rats and normal Wistar rats. However, plasma antioxidant capacity, proteins, alpha-tocopherol, urate, catecholamines, lipids, and nitrate were not influenced by the vitamin C deficiency in ODS rats. Moreover, there was no difference between ODS vitamin C-deficient and -supplemented rats in heart rate and arterial pressure. After 5 min of an in vivo regional myocardial ischemia, various severe arrhythmias were observed, but their intensities were not modified by vitamin C in vitamin C-deficient ODS rats. The vascular reactivity, measured in vitro on thoracic arteries, was not altered by ascorbate deficiency in ODS rats. These unexpected results suggest that unidentified compensatory mechanisms play a role in maintaining normal cardiac function and vascular reactivity in vitamin C-deficient rats.

  15. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

    Directory of Open Access Journals (Sweden)

    Shuji Mizumoto

    2014-01-01

    Full Text Available Glycosaminoglycans (GAGs are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

  16. Bioavailability of iron and zinc from human diets: Nutrient delivery technology salt fortification in human nutrition

    International Nuclear Information System (INIS)

    Raghuramulu, N.

    1992-01-01

    Iodine deficiency disorders (IDD), iron deficiency anaemia(IDA) and zinc deficiency are common problems in India. The discussions in this paper centers on the selection of the vehicles which could be used to successfully deliver essential nutrients into the daily diet of the general population of india and the identification of compounds which inhibit the intestinal absorption of zinc. 40 refs, 11 tabs

  17. Vitamin D deficiency: infertility and neurodevelopmental diseases (attention deficit hyperactivity disorder, autism, and schizophrenia).

    Science.gov (United States)

    Berridge, Michael J

    2018-02-01

    The process of development depends on a number of signaling systems that regulates the progressive sequence of developmental events. Infertility and neurodevelopmental diseases, such as attention deficit hyperactivity disorder, autism spectrum disorders, and schizophrenia, are caused by specific alterations in these signaling processes. Calcium signaling plays a prominent role throughout development beginning at fertilization and continuing through early development, implantation, and organ differentiation such as heart and brain development. Vitamin D plays a major role in regulating these signaling processes that control development. There is an increase in infertility and an onset of neurodevelopmental diseases when vitamin D is deficient. The way in which vitamin D deficiency acts to alter development is a major feature of this review. One of the primary functions of vitamin D is to maintain the phenotypic stability of both the Ca 2+ and redox signaling pathways that play such a key role throughout development.

  18. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

    Science.gov (United States)

    Thurm, Audrey; Himelstein, Daniel; DʼSouza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S; Carrillo, Nuria

    2016-05-01

    Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders. Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability. We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD. Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.

  19. Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.

    Science.gov (United States)

    Bröer, Angelika; Juelich, Torsten; Vanslambrouck, Jessica M; Tietze, Nadine; Solomon, Peter S; Holst, Jeff; Bailey, Charles G; Rasko, John E J; Bröer, Stefan

    2011-07-29

    Amino acid uptake in the intestine and kidney is mediated by a variety of amino acid transporters. To understand the role of epithelial neutral amino acid uptake in whole body homeostasis, we analyzed mice lacking the apical broad-spectrum neutral (0) amino acid transporter B(0)AT1 (Slc6a19). A general neutral aminoaciduria was observed similar to human Hartnup disorder which is caused by mutations in SLC6A19. Na(+)-dependent uptake of neutral amino acids into the intestine and renal brush-border membrane vesicles was abolished. No compensatory increase of peptide transport or other neutral amino acid transporters was detected. Mice lacking B(0)AT1 showed a reduced body weight. When adapted to a standard 20% protein diet, B(0)AT1-deficient mice lost body weight rapidly on diets containing 6 or 40% protein. Secretion of insulin in response to food ingestion after fasting was blunted. In the intestine, amino acid signaling to the mammalian target of rapamycin (mTOR) pathway was reduced, whereas the GCN2/ATF4 stress response pathway was activated, indicating amino acid deprivation in epithelial cells. The results demonstrate that epithelial amino acid uptake is essential for optimal growth and body weight regulation.

  20. NUTRITIONAL DISORDERS BY DEFICIENCY IN SUNFLOWER var. CATISSOL-01 DESORDENS NUTRICIONAIS POR DEFICIÊNCIA EM GIRASSOL var. CATISSOL-01

    Directory of Open Access Journals (Sweden)

    Renato de Mello Prado

    2007-09-01

    Full Text Available

    This study was carried out in aerated nutritive solution to evaluate the effect of macronutrients, boron, and zinc omission on plant growth, dry matter production, visual symptoms and nutritional status of sunflower. The experiment was arranged in a completely randomized design with two replications and nine treatments corresponding to the complete solution (macro and micronutrients and individual omission of N, P, K, Ca, S, Mg, B and Zn. We measured plant height, number of leaves, stem diameter, leaf area and dry matter, and leaf content of macro and micronutrients. The individual omissions of N, P, K, and Ca were the most limiting to plant dry matter production, and resulted in morphological alterations represented by characteristical visual symptoms of the nutritional deficiency of each element.

    KEY-WORDS: Helianthus annuus; deficiency; nutritional disorder; nutrients; visual symptom.

    Objetivando-se avaliar o efeito da omissão de macronutrientes, de boro e de zinco no crescimento, na produção de matéria seca, nos sintomas visuais e no estado nutricional de plantas de girassol. Conduziu-se um experimento em solução nutritiva aerada. O delineamento experimental foi inteiramente casualizado, com nove tratamentos, que corresponderam à solução completa (macro e micronutrientes e à omissão individual de N, P, K, Ca, S, Mg, B e Zn, em duas repetições. Avaliou-se a altura das plantas, o número de folhas, o diâmetro do caule, a área foliar e a matéria seca, além do teor foliar de macro e micronutrientes. As omissões individuais de N, P, K e Ca foram as mais limitantes para o crescimento vegetativo do girassol, avaliado sobre a produção de matéria seca das plantas. Isso resultou em alterações morfológicas que se traduziram em sintomas visuais característicos da defici

  1. Sex-related differences in photoinhibition, photo-oxidative stress and photoprotection in stinging nettle (Urtica dioica L.) exposed to drought and nutrient deficiency.

    Science.gov (United States)

    Simancas, Bárbara; Juvany, Marta; Cotado, Alba; Munné-Bosch, Sergi

    2016-03-01

    Dimorphic plant species can show distinct nutrient needs due to sex-related differences in nutrient allocation to reproductive structures, which can potentially affect their sensitivity to photoinhibition and photo-oxidative stress. Here, we investigated sex-related differences in the extent of photo-oxidative stress in male and female individuals of U. dioica exposed to a combination of severe drought and nutrient starvation. Male and female individuals of U. dioica subject to severe drought stress were exposed to various levels of nutrient availability. First, a set of plants grown under field conditions and exposed to summer drought was used to test the effects of nutrient supply (given as NPK fertilizer). Secondly, the effects of various phosphate concentrations in the nutrient solution were tested in drought-stressed potted plants. The Fv/Fm ratio (maximum efficiency of PSII photochemistry), photoprotection capacity (levels of carotenoids, including the xanthophyll cycle, and vitamins C and E), and the extent of lipid peroxidation (hydroperoxide levels) were measured. Results showed that an application of the NPK fertilizer to the soil had a positive effect on drought-stressed plants, reducing the extent of lipid peroxidation in both males and females. P deficiency led to residual photoinhibition, as indicated by significant reductions in the Fv/Fm ratio, and enhanced lipid peroxidation in females, but not in males. We conclude that (i) increased nutrient availability in the soil can alleviate photo-oxidative stress in drought-stressed U. dioica plants, and (ii) U. dioica plants show sexual secondary dimorphism in terms of photoinhibition and photo-oxidative stress, but this is only apparent when stress infringed on plants is very severe. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Porphyrinuria in childhood autistic disorder is not associated with urinary creatinine deficiency.

    Science.gov (United States)

    Nataf, Robert; Skorupka, Corinne; Lam, Alain; Springbett, Anthea; Lathe, Richard

    2008-08-01

    Urinary metabolite measurements are often normalized to levels of the ubiquitous metabolite creatinine (CRT) to take account of variations in fluid export. Following CRT normalization, excesses of porphyrins and isoprostanes have been reported in the urines of children with neurodevelopmental disorders. It was suggested (Whiteley et al., 2006, Pediatr. Int. 2006; 48: 292-297) that urinary CRT levels may be depressed in children with autism spectrum disorders. This prompted re-evaluation of CRT levels in such children. First matinal urinary CRT levels were compared between subjects in different diagnostic categories including autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS) and hyperactivity, before and after correction for age and gender. A larger reference group, consisting of subjects with unrelated disorders and Asperger disorder, with no reported porphyrin excess, was also compared to the group with autistic disorder, both for CRT and for porphyrin (coproporphyrin, COPRO) excess. No significant difference in CRT was observed between any of the categories analyzed, also when corrected for age and gender. In contrast, urinary COPRO levels were significantly higher in autistic disorder versus reference groups, either when expressed as absolute values (independent of CRT levels) or when normalized to CRT. These data do not support a systematic reduction in urinary CRT levels in subjects with autism spectrum disorders including autistic disorder and PDD-NOS. Urinary COPRO excess in autistic disorder was not associated with or consequent upon urinary CRT deficiency. Differences between affected and control subjects in age and sampling time, as reported by Whiteley et al., may underlie the apparent CRT reduction.

  3. Effect of supplementation of lysine and methionine on growth performance, nutrients digestibility and serum biochemical indices for growing sika deer (Cervus Nippon fed protein deficient diet

    Directory of Open Access Journals (Sweden)

    Jian Huang

    2015-02-01

    Full Text Available This study was conducted to investigate the effect of supplementation of lysine (Lys and methionine (Met on growth performance, nutrients digestibility and serum biochemical indices for growing sika deer fed crude protein (CP deficient diet. Sixteen 5-month-old growing male sika deer were randomly assigned to 4 groups receiving diets (n=4: i CP-adequate (16.63% diet; ii CP-deficient (13.77% diet with 3 g/kg Lys; iii CP-deficient with 3 g/kg Lys and 1 g/kg Met; iv CP-deficient diet with 3 g/kg Lys and 2 g/kg Met. The digestibility of dry matter P<0.01, organic matter (P<0.01, CP (P<0.01, serum albumin (P<0.01, and total protein (P<0.01 concentrations of groups receiving CP-adequate or Met supplementation were improved. The average daily gain (P=0.10, gain to feed ratio (P=0.07, the digestibility of acid (P=0.07 and neutral detergent fibre (P=0.09, and the serum globulin (P=0.08 concentrations had a tendency to increase as the Met or CP level increased. Meanwhile, blood urea nitrogen (P<0.01 and alanine aminotransferase (P<0.01 were decreased for CP-deficient, but no response to Met-added diets; aspartate aminotransferase (P=0.04 depressed for both CP-deficient and Met-added diets. Therefore, amino acids added to CP-deficient diets show high efficiency: they remain among the simplest ways for growth performance, while cutting down environmental waste and economic consumption.

  4. [Study on the iodine nutrition and iodine deficiency disorders status in pasturing areas of Tibet-a non-epidemic area of iodine deficiency disorders in serious iodine deficiency district].

    Science.gov (United States)

    DU, Dan; Li, Su-Mei; Li, Xiu-Wei; Wang, Hai-Yan; Li, Shu-Hua; Nima, Cangjue; Danzeng, Sangbu; Zhuang, Guang-Xiu

    2010-08-01

    To explore the status of iodine nutrition and iodine deficiency disorders in the pasturing areas and agricultural regions in Tibet. 30 families were selected respectively in pastoral Dangxiong county and agricultural Qushui county of Lasa. Drinking water and edible salt were collected for testing the iodine contents. In each type of the following populations including children aged 8 - 10, women of child-bearing age and male adults, 50 subjects were randomly sampled to examine their urinary iodine contents. Among them, 50 children and 50 women were randomly selected for goiter examination by palpation. Water iodine content was less than 2 µg/L, both in pasturing area and in agricultural areas. There was no iodized salt used in the families of pasturing areas, while 90% people consumed iodized salt in agricultural areas. The median of urinary iodine in pasturing area was 50.2 µg/L, significantly lower than that of agricultural area (193.2 µg/L). However, the goiter rate of children and women in pasturing area was significantly lower than that in agricultural area. Although iodine intake of populations in pasturing area of Tibet was severely deficient, there was no epidemic of Iodine Deficiency Disorders. This phenomenon noticed by the researchers deserved further investigation.

  5. Rasal2 deficiency reduces adipogenesis and occurrence of obesity-related disorders

    Directory of Open Access Journals (Sweden)

    Xiaoqiang Zhu

    2017-06-01

    Full Text Available Objective: Identification of additional regulatory factors involved in the onset of obesity is important to understand the mechanisms underlying this prevailing disease and its associated metabolic disorders and to develop therapeutic strategies. Through isolation and analysis of a mutant, we aimed to uncover the function of a Ras-GAP gene, Rasal2 (Ras protein activator like 2, in the development of obesity and related metabolic disorders and to obtain valuable insights regarding the mechanism underlying the function. Methods: An obesity-based genetic screen was performed to identify an insertional mutation that disrupts the expression of Rasal2 (Rasal2PB/PB mice. Important metabolic parameters, such as fat mass and glucose tolerance, were measured in Rasal2PB/PB mice. The impact of Rasal2 on adipogenesis was evaluated in the mutant mice and in 3T3-L1 preadipocytes treated with Rasal2 siRNA. Ras and ERK activities were then evaluated in Rasal2-deficient preadipocytes or mice, and their functional relationships with Rasal2 on adipogenesis were investigated by employing Ras and MEK inhibitors. Results: Rasal2PB/PB mice showed drastic decrease in Rasal2 expression and a lean phenotype. The mutant mice displayed decreased adiposity and resistance to high-fat diet induced metabolic disorders. Further analysis indicated that Rasal2 deficiency leads to impaired adipogenesis in vivo and in vitro. Moreover, while Rasal2 deficiency resulted in increased activity of both Ras and ERK in preadipocytes, reducing Ras, but not ERK, suppressed the impaired adipogenesis. Conclusions: Rasal2 promotes adipogenesis, which may critically contribute to its role in the development of obesity and related metabolic disorders and may do so by repressing Ras activity in an ERK-independent manner. Keywords: Ras, ERK, Ras-GAP, Glucose tolerance, High-fat diet, Diabetes

  6. Hematological Disorders following Gastric Bypass Surgery: Emerging Concepts of the Interplay between Nutritional Deficiency and Inflammation

    Directory of Open Access Journals (Sweden)

    Mingyi Chen

    2013-01-01

    Full Text Available Obesity and the associated metabolic syndrome are among the most common and detrimental metabolic diseases of the modern era, affecting over 50% of the adult population in the United States. Surgeries designed to promote weight loss, known as bariatric surgery, typically involve a gastric bypass procedure and have shown high success rates for treating morbid obesity. However, following gastric bypass surgery, many patients develop chronic anemia, most commonly due to iron deficiency. Deficiencies of vitamins B1, B12, folate, A, K, D, and E and copper have also been reported after surgery. Copper deficiency can cause hematological abnormalities with or without neurological complications. Despite oral supplementation and normal serum concentrations of iron, copper, folate, and vitamin B12, some patients present with persistent anemia after surgery. The evaluation of hematologic disorders after gastric bypass surgery must take into account issues unique to the postsurgery setting that influence the development of anemia and other cytopenias. In this paper, the clinical characteristics and differential diagnosis of the hematological disorders associated with gastric bypass surgery are reviewed, and the underlying molecular mechanisms are discussed.

  7. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

    Science.gov (United States)

    Park, Julien H; Hogrebe, Max; Grüneberg, Marianne; DuChesne, Ingrid; von der Heiden, Ava L; Reunert, Janine; Schlingmann, Karl P; Boycott, Kym M; Beaulieu, Chandree L; Mhanni, Aziz A; Innes, A Micheil; Hörtnagel, Konstanze; Biskup, Saskia; Gleixner, Eva M; Kurlemann, Gerhard; Fiedler, Barbara; Omran, Heymut; Rutsch, Frank; Wada, Yoshinao; Tsiakas, Konstantinos; Santer, René; Nebert, Daniel W; Rust, Stephan; Marquardt, Thorsten

    2015-12-03

    SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detection limit. The variants c.112G>C (p.Gly38Arg) and c.1019T>A (p.Ile340Asn) were identified in SLC39A8. A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. These data demonstrate that variants in SLC39A8 impair the function of manganese-dependent enzymes, most notably β-1,4-galactosyltransferase, a Golgi enzyme essential for biosynthesis of the carbohydrate part of glycoproteins. Impaired galactosylation leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss. Oral galactose supplementation is a treatment option and results in complete normalization of glycosylation. SLC39A8 deficiency links a trace element deficiency with inherited glycosylation disorders. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. Body Mass Disorders in Healthy Short Children and in Children with Growth Hormone Deficiency.

    Science.gov (United States)

    Tomaszewski, Paweł; Milde, Katarzyna; Majcher, Anna; Pyrżak, Beata; Tiryaki-Sonmez, Gul; Schoenfeld, Brad J

    2018-01-01

    The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR). We found that there were no significant differences in %FAT and the incidence of body weight disorders depending on gender or diagnosis. %FAT deficit was observed in 12-21% of the participants and underweight in almost every fourth child. Overweight involved 3-14% of the participants and obesity was diagnosed in isolated cases (0-3%); both were considerably lower compared to the estimates based on %FAT. Using the cut-off points of WHtR, abdominal adiposity was observed in 3-15% of the participants. In conclusion, quite a large number of short children (between 25 and 50%) are characterized by abnormal body fat or body mass index values. The results indicate a limited usefulness of BMI in evaluating the incidence of overweight and obesity in children characterized by a height deficit.

  9. High prevalence of vitamin D deficiency and insufficiency in adolescent inpatients diagnosed with eating disorders.

    Science.gov (United States)

    Modan-Moses, Dalit; Levy-Shraga, Yael; Pinhas-Hamiel, Orit; Kochavi, Brigitte; Enoch-Levy, Adi; Vered, Iris; Stein, Daniel

    2015-09-01

    Previous studies assessing vitamin D status in adolescents with eating disorders showed inconsistent results. The aim of the current study was to assess vitamin D status in a large cohort of adolescent inpatients with eating disorders and its relation to bone mineral density (BMD) and depression. 25-Hydroxyvitamin D (25OHD), calcium, phosphorus, and alkaline phosphatase levels as well as BMD and depression were assessed on admission in 87 inpatients (aged 16 ± 2 years, females = 81) with eating disorders [anorexia nervosa (AN) = 64; bulimia nervosa (BN) = 5; eating disorders not otherwise specified-binge/purge type (EDNOS-B/P) = 18]. Mean 25OHD levels were 24.1 ± 7.5 ng/ml (25.0 ± 7.6, 25.4 ± 9.9, and 22.0 ± 9.9 ng/ml in patients with AB, BN, and EDNOS-B/P, respectively). Vitamin D deficiency (32 ng/ml, considered optimal by some experts. No associations were found between 25OHD levels and BMD or comorbid depression. 25OHD levels during winter were significantly lower than summer levels (p EDNOS-B/P type was low (-1.5 ± 1.1) and correlated with body mass index standard deviation score (p = .03). Adolescents with eating disorders show a high prevalence of vitamin D deficiency and insufficiency. Given the risk of osteoporosis in this population, 25OHD levels found in this group may not offer optimal bone protection. Vitamin D levels should be routinely checked and supplementation should be administered as required. © 2014 Wiley Periodicals, Inc.

  10. Vitamin D Deficiency in HIV Infection: Not Only a Bone Disorder

    Directory of Open Access Journals (Sweden)

    Pasquale Mansueto

    2015-01-01

    Full Text Available Hypovitaminosis D is a worldwide disorder, with a high prevalence in the general population of both Western and developing countries. In HIV patients, several studies have linked vitamin D status with bone disease, neurocognitive impairment, depression, cardiovascular disease, high blood pressure, metabolic syndrome, type 2 diabetes mellitus, infections, autoimmune diseases like type 1 diabetes mellitus, and cancer. In this review, we focus on the most recent epidemiological and experimental data dealing with the relationship between vitamin D deficiency and HIV infection. We analysed the extent of the problem, pathogenic mechanisms, clinical implications, and potential benefits of vitamin D supplementation in HIV-infected subjects.

  11. Deficiencias de nutrientes en suelos semiáridos. I: ajuste de un método en invernáculo Nutrient deficiencies in semiarid soils. I: adjustment of a method in greenhouse

    Directory of Open Access Journals (Sweden)

    Osvaldo A. Barbosa

    2002-01-01

    Full Text Available El presente estudio fue llevado a cabo con el objetivo de estimar las carencias de nutrientes minerales y sus prioridades en suelos agrícolas de regadío del área de influencia de Villa Mercedes (San Luis, Argentina, utilizando una técnica simple que combina métodos sustractivos y aditivos en invernáculo. Las experiencias se realizaron comparando ocho tratamientos sustractivos (C, C-Mg, C-Ca, C-P, C-K, C-S, C-EM, y T, y cuatro aditivos (N, NP, NS, y NPS, en un Haplustoll éntico a dos profundidades (0-20 y 20-40 cm empleando como planta índice Lolium multiflorum Lam. Los resultados muestran que: 1 no existen deficiencias nutritivas de K, Mg, Ca ni EM (elementos menores, en las profundidades estudiadas, 2 el S fue deficiente en las dos profundidades, 3 el P presenta una disminución de rendimientos en superficie mientras que es deficiente en profundidad. Asimismo se obtuvo una correlación positiva (r = 0,9128 entre el consumo de agua realizada por el cultivo y los rendimientos de materia seca obtenidos de los diferentes tratamientos.This study was carried out in order to estimate the mineral nutrient deficiencies and their priorities in irrigated arable soils in the area of Villa Mercedes (San Luis, Argentine by means of a simple technique, which combines subtractive and additive methods in greenhouse. The trials were performed by comparing eight subtractive treatments (C, C-Mg, C-Ca, C-P, C-K, C-S, C-ME and T and four additive ones (N, NP, NS and NPS, in an Entic Haplustoll, at two depths (0-20 and 20-40 cm and using Lolium multiflorum Lam. as index plant. The achieved results show that: 1 there are no nutrient deficiencies of K, Mg, Ca, or ME (minor element, in depths studied; 2 S was deficient in both depths; 3 P presents a marked decrease of yield at surface level while it is found to be deficient at greater depths. In addition, there appeared a positive correlation (r = 0.9128 between the water consumed by the crop and the yields

  12. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.

    Science.gov (United States)

    Pericleous, Marinos; Kelly, Claire; Wang, Tim; Livingstone, Callum; Ala, Aftab

    2017-09-01

    Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent activity of this essential enzyme. The severity of the resulting disease depends on the nature of the underlying mutation and magnitude of its effect on enzymatic function. Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic failure, and an average life expectancy of less than 4 months. Cholesteryl ester storage disorder arises later in life and is less severe, although the two diseases share many common features, including dyslipidaemia and transaminitis. The prevalence of these diseases has been estimated at one in 40 000 to 300 000, but many cases are undiagnosed and unreported, and awareness among clinicians is low. Lysosomal acid lipase deficiency-which can be diagnosed using dry blood spot testing-is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), hereditary dyslipidaemia, or cryptogenic cirrhosis. There are no formal guidelines for treatment of these patients, and treatment options are limited. In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Vitamin D across growth hormone (GH) disorders: From GH deficiency to GH excess.

    Science.gov (United States)

    Ciresi, A; Giordano, C

    2017-04-01

    The interplay between vitamin D and the growth hormone (GH)/insulin-like growth factor (IGF)-I system is very complex and to date it is not fully understood. GH directly regulates renal 1 alpha-hydroxylase activity, although the action of GH in modulating vitamin D metabolism may also be IGF-I mediated. On the other hand, vitamin D increases circulating IGF-I and the vitamin D deficiency should be normalized before measurement of IGF-I concentrations to obtain reliable and unbiased IGF-I values. Indeed, linear growth after treatment of nutritional vitamin D deficiency seems to be mediated through activation of the GH/IGF-I axis and it suggests an important role of vitamin D as a link between the proliferating cartilage cells of the growth plate and GH/IGF-I secretion. Vitamin D levels are commonly lower in patients with GH deficiency (GHD) than in controls, with a variable prevalence of insufficiency or deficiency, and this condition may worsen the already known cardiovascular and metabolic risk of GHD, although this finding is not common to all studies. In addition, data on the impact of GH treatment on vitamin D levels in GHD patients are quite conflicting. Conversely, in active acromegaly, a condition characterized by a chronic GH excess, both increased and decreased vitamin D levels have been highlighted, and the interplay between vitamin D and the GH/IGF-I axis becomes even more complicated when we consider the acromegaly treatment, both medical and surgical. The current review summarizes the available data on vitamin D in the main disorders of the GH/IGF-I axis, providing an overview of the current state of the art. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Current iodine nutrition status and progress toward elimination of iodine deficiency disorders in Jazan, Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Alsanosy Rashad Mohammed

    2012-11-01

    Full Text Available Abstract Background The term iodine deficiency disorders (IDD refers to all the effects of iodine deficiency on growth and development in human and animal populations that can be prevented by correction of the iodine deficiency. The objective of this paper was to determine the iodine nutrition status among schoolchildren in the Jazan Region of the Kingdom of Saudi Arabia (KSA, by measuring urinary iodine concentrations and by clinical assessments of goiter rate. Methods A school-based cross-sectional survey was conducted in the Jazan region of southwestern KSA from May to November 2010. A total of 311 children, aged 6–13 years, drawn from 12 schools, were selected by a three-stage cluster random sampling method. Data on sociodemographic characteristics were collected using a structured questionnaire. Urine samples were collected and physical examinations were conducted to determine the presence or absence of goiter. Data were analyzed using SPSS version 17.0. Chi square and independent t-tests were used for proportions and mean comparisons between groups. Results Out of 360 selected children, 311 were examined. There were 131 males (42% and 180 females (58%. The median urinary iodine concentration (UIC of the study group was 421 μg/L. The study population proportion with UIC > 300 μg/L was 74% with a higher proportion among males and urban populations. The proportion of children with UIC of 100–300 μg/L was only 21% and was significantly higher among females compared with males (p Conclusions The present study demonstrates a remarkable achievement in Universal Salt Iodization (USI and IDD elimination goals in the Jazan area. However, UIC levels reflect excessive iodine intake and may put the population at risk of adverse health consequences like iodine-induced hyperthyroidism and autoimmune thyroid diseases.

  15. P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.

    Science.gov (United States)

    Miller, Walter L

    2012-10-23

    Cytochrome P450 enzymes catalyze the biosynthesis of steroid hormones and metabolize drugs. There are seven human type I P450 enzymes in mitochondria and 50 type II enzymes in endoplasmic reticulum. Type II enzymes, including both drug-metabolizing and some steroidogenic enzymes, require electron donation from a two-flavin protein, P450 oxidoreductase (POR). Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and found mild POR mutations in phenotypically normal adults with infertility. Assay results of mutant forms of POR using the traditional but nonphysiologic assay (reduction of cytochrome c) did not correlate with patient phenotypes; assays based on the 17,20 lyase activity of P450c17 (CYP17) correlated with clinical phenotypes. The POR sequence in 842 normal individuals revealed many polymorphisms; amino acid sequence variant A503V is encoded by ~28% of human alleles. POR A503V has about 60% of wild-type activity in assays with CYP17, CYP2D6, and CYP3A4, but nearly wild-type activity with P450c21, CYP1A2, and CYP2C19. Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combination must be studied individually. Human POR transcription, initiated from an untranslated exon, is regulated by Smad3/4, thyroid receptors, and the transcription factor AP-2. A promoter polymorphism reduces transcription to 60% in liver cells and to 35% in adrenal cells. POR deficiency is a newly described disorder of steroidogenesis, and POR variants may account for some genetic variation in drug metabolism.

  16. Variación en la producción de alcaloides en inflorescencias de Senecio Grisebachii por deficiencia de nutrientes Alkaloid production changes due to nutrient deficiencies in Senecio Grisebachii inflorescences

    Directory of Open Access Journals (Sweden)

    Margarita A Yaber Grass

    2009-06-01

    Full Text Available Senecio grisebachii Baker es una maleza que invade pasturas naturales y cultivos en el sur de Brasil, Uruguay, y provincias mesopotámicas y Buenos Aires en la Argentina y es considerada tóxica debido a la presencia de alcaloides pirrolizidínicos (APs en sus tejidos. Se evaluó el efecto de la deficiencia de nitrógeno y de fósforo sobre el perfil de APs en inflorescencias de esta maleza. Se realizó un ensayo utilizando un diseño completamente aleatorizado con 10 repeticiones, en el cual las plantas, que crecieron en hidroponia desde mayo hasta octubre, fueron regadas con solución de nutrientes en las que las concentraciones de N o de P reducidas en un 50% respecto del control. La cuantificación de APs en las inflorescencias de S. grisebachii por CG y CG-EM, demuestra un aumento significativo en el contenido total de APs, en los tratamientos con déficit en N o P (1,33 y 1,34 mg g-1 de materia seca, respectivamente, comparados con el control 0,35 mg g-1. Se identificaron siete APs y sus concentraciones variaron entre tratamientos. Senecionina resultó el alcaloide mayoritario en el tratamiento déficit de N, mientras senecifilina resultó más abundante en los tratamientos control y con déficit de P, seguidos en todos los casos por integerrimina y cantidades menores de espartiodina, jacobina, jacozina y retrorsina.Senecio grisebachii Baker is a weed that invades natural pastures and crops in southern Brazil, Uruguay, the mesopotamic provinces and Buenos Aires in Argentina, and is considered to be toxic because of the presence of pyrrolizidine alkaloids (PAs in its tissues. The effects of nitrogen and phosphorus deficiency was evaluated on the APs patterns of the weed inflorescences. A completely randomized design with 10 repetitions was used in an experiment where plants growing in hydroponics from May to October were irrigated with a nutrient solution containing 50% P or N concentrations with respect to the control treatment. PAs

  17. Repeatability of metabolic responses to a nutrient deficiency in early and mid lactation and implications for robustness of dairy cows.

    Science.gov (United States)

    Gross, J J; Bruckmaier, R M

    2015-12-01

    Nutrient partitioning toward the mammary gland during insufficient energy and nutrient supply is a strategy to ensure survival of the offspring in mammalian species. This homeorhetic priority of the mammary gland is also present in the modern dairy cow, in particular in early lactation. However, despite similar metabolic loads, the adaptive response to a given metabolic load varies considerably among animals. The aim of this study was to investigate if individual cows respond in a consistent manner to a negative energy balance (NEB) in early and mid lactation. Twenty-five dairy cows experienced the usual NEB after parturition and were subjected to a second 3-wk NEB induced by feed restriction in mid lactation. Animals were retrospectively ranked according to their highest plasma nonesterified fatty acid (NEFA) concentration in wk 1 to 4 postpartum. The animals with the 33% highest and 33% lowest values were selected and classified either as the high response (HR) or low response (LR) group. Before parturition, no differences in the studied parameters, dry matter intake, energy balance, concentrations of glucose, NEFA, β-hydroxybutyrate, cholesterol, triglycerides, growth hormone, and insulin-like growth factor-1, were detected between LR and HR. After parturition, milk yield and energy-corrected milk yield was higher for HR compared with LR in wk 2 to 14 and wk 1 to 6, respectively. During feed restriction in wk 15 to 17 postpartum, no differences in energy-corrected milk between LR and HR were found. Energy balance was more negative in HR during the NEB in early lactation, but not different from LR during feed restriction in mid lactation. Although plasma concentrations of glucose, growth hormone, triglycerides, and cholesterol showed group differences in early lactation, but not during feed restriction, the plasma concentrations of NEFA, β-hydroxybutyrate, and insulin-like growth factor-1 in HR changed repeatedly to a greater extent during the NEB at the 2

  18. The Incidence of Functional Disorders and Clinical Symptoms that May be Associated with Lactase Deficiency in Infants of Lviv

    Directory of Open Access Journals (Sweden)

    R.V. Tkach

    2016-08-01

    Full Text Available Today, the violations of the digestive system in children of the first years of life remain the actual problem of practical pediatrics and are the common cause for parents to visit a doctor. The importance in the genesis of functional disorders of the digestive system in children of this age may belongs to lactase deficiency. 327 children from Lviv were included in the questionnaire survey. The aim of the study was to evaluate the incidence of clinical symptoms that may be associated with lactase deficiency in infants. Among the clinical symptoms in young children, according to the survey, regurgitation and colic, stool disorders dominated. The diagnosis of lactase deficiency was established in 3.4 % (11 of children, 2.8 % (9 children received enzyme of lactase.

  19. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

    NARCIS (Netherlands)

    de Vet, E. C.; IJlst, L.; Oostheim, W.; Wanders, R. J.; van den Bosch, H.

    1998-01-01

    Peroxisomes play an indispensible role in ether lipid biosynthesis as evidenced by the deficiency of ether phospholipids in fibroblasts and tissues from patients suffering from a number of peroxisomal disorders. Alkyl-dihydroxyacetonephosphate synthase, a peroxisomal enzyme playing a key role in the

  20. The High Prevalence of Anemia in Cambodian Children and Women Cannot Be Satisfactorily Explained by Nutritional Deficiencies or Hemoglobin Disorders

    Science.gov (United States)

    Wieringa, Frank Tammo; Dahl, Miriam; Chamnan, Chhoun; Poirot, Etienne; Kuong, Khov; Sophonneary, Prak; Sinuon, Muth; Greuffeille, Valerie; Hong, Rathavuth; Berger, Jacques; Dijkhuizen, Marjoleine Amma; Laillou, Arnaud

    2016-01-01

    Background: Anemia is highly prevalent in Cambodian women and children, but data on causes of anemia are scarce. We performed a national micronutrient survey in children and women that was linked to the Cambodian Demographic Health Survey 2014 (CDHS-2014) to assess the prevalence of micronutrient deficiency, hemoglobin disorders and intestinal parasite infection. Methods: One-sixth of households from the CDHS-2014 were selected for a follow-up visit for the micronutrient survey. Households were visited from two weeks to two months after the CDHS-2014 visit. Data on micronutrient status were available for 1512 subjects (792 children and 720 women). Results: Anemia was found in 43% of the women and 53% of the children. Hemoglobin disorders affected >50% of the population, with Hemoglobin-E the most prevalent disorder. Deficiencies of iron (ferritin children, the prevalence of iron, vitamin A, vitamin B12 or folic acid deficiency was anemia in children, whereas in the women none of the factors was significantly associated with anemia. Iron deficiency anemia (IDA) was more prevalent in children children and women, the prevalence of IDA was anemia were hookworm infection and zinc and folic acid deficiency. Over 40% of the anemia was not caused by nutritional factors. Conclusion: The very high prevalence of anemia in Cambodian women and children cannot be explained solely by micronutrient deficiencies and hemoglobin disorders. Micronutrient interventions to improve anemia prevalence are likely to have limited impact in the Cambodian setting. The focus of current interventions to reduce the high prevalence of anemia in children and women should be broadened to include zinc and folic acid as well as effective anti-hookworm measures. PMID:27338454

  1. Relationship between severity of depression symptoms and iron deficiency anemia in women with major depressive disorder

    Directory of Open Access Journals (Sweden)

    Seyed gholamreza Noorazar

    2015-11-01

    Full Text Available Introduction: Iron deficiency (ID is a common nutritional problem lead to many unintended consequences such as decrease energy, immune system problems, and neurological dysfunction. The most common psychological disorder is depression. A patient with ID anemia (IDA show signs and symptoms of behavioral and mood disorders like depression. Methods: In this study, 100 female patients with diagnosed major depression in years 2010 and 2011 were studied. In all patients standard Hamilton depression rating scale (HDRS was used to evaluate depression severity. Blood samples were taken for complete blood count difference analysis and evaluating anemia and in those with hemoglobin (Hb < 12 mg/dl, ferritin, and total iron binding capacity were checked to evaluate IDA. Results: Patients mean age was 36.34 ± 10.43 years old. Mean HDRS score was 32.20 ± 4.07. 19 had anemia, and among them 8% had IDA. Mean HDRS score in patients with IDA (33.37 ± 1.90 was higher than those without (32.09 ± 4.19, but the difference was not significant (P = 0.39. There was no difference between patients with and without anemia in HDRS score. The negative relation was observed between Hb levels, and HDRS score (Pearson correlation = -0.21, P = 0.03. Conclusion: We observed that the negative correlation between Hb levels and HDRS score. It demonstrates the effect of Hb decrease and anemia occurrence on depression severity; however, it needs more studies.

  2. Iron Deficiency Parameters in Children and Adolescents with Attention-Deficit/Hyperactivity Disorder.

    Science.gov (United States)

    Percinel, Ipek; Yazici, Kemal Utku; Ustundag, Bilal

    2016-04-01

    The aim of this study is to compare iron deficiency parameters in patients with stimulant-naive attention-deficit/hyperactivity disorder (ADHD) and healthy controls, to investigate whether there are differences among the ADHD presentations, and to evaluate the relationship between ADHD symptom severity and serum ferritin levels. In addition, ADHD-Predominantly Inattentive (ADHD-PI) patients with restrictive hyperactivity/impulsivity symptoms were evaluated as a separate group with "restrictive inattention presentation" (ADHD-Rest) and were compared with other groups. Patients with ADHD-Rest are typically defined as having six or more symptoms of inattention and fewer than three symptoms of hyperactivity/impulsivity. A total of 200 ADHD cases consisting of 100 ADHD-Combine (ADHD-C) and 100 ADHD-PI and a total of 100 healthy control cases were included in the study. The Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version was performed in a semi-structured interview during the diagnosis. The Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale, the Conners' Rating Scale-Revised: Long Form (Parent-Teacher) (CPRSR:L, CTRS-R:L) were used for clinical evaluation. Hemogram, serum iron, iron binding capacity and serum ferritin levels were assessed. There were no significant differences between the ADHD patients and the healthy control cases in terms of iron deficiency parameters. Further, there were no significant differences among the ADHD presentations in terms of the same parameters, nor were there any significant differences when the groups were examined after the identification of the ADHD-Rest. The CPRS-R:L Hyperactivity and the CTRS-R:L Hyperactivity scores were negatively correlated with serum ferritin level in the ADHD group. To our knowledge, our current study is the first to compare serum ferritin levels in ADHD-Rest with other presentations of ADHD, and included the largest

  3. A two-diet feeding regime for lactating sows reduced nutrient deficiency in early lactation and improved milk yield

    DEFF Research Database (Denmark)

    Pedersen, Trine Friis; Sønderby Bruun, Thomas; Feyera, Takele

    2016-01-01

    was recorded weekly. In addition, weekly milk samples and blood samples on d 3 and 17 were collected. Furthermore, sows were enriched with D2O (deuterated water) on d 2 and 28 after parturition to calculate body pools of fat and protein. Sows’ feed intake and weight loss interacted with diet regime across wk......The objective of the present study was to evaluate whether a new feeding concept composed of two dietary components fed daily throughout lactation could minimize sow weight loss and increase milk yield (MY) and piglet weight gain. In total, 14 sows were included in the experiment from parturition...... until weaning 28 d later. The sows were fed one of two dietary feeding regimes from lactation d 2 and throughout lactation. The 1-diet feeding regime represented the Danish feeding standards and recommendations. The new 2-diet regime supplied sows feed and nutrients (ME and AA) according...

  4. The Findings of Epidemiological Studies on the Prevalence of Iodine Deficiency Disorders in the Khorezm Region of Republic of Uzbekistan

    Directory of Open Access Journals (Sweden)

    S.I. Ismailov

    2013-05-01

    Full Text Available Despite the ongoing programs aimed at the liquidation of iodine deficiency in the Republic of Uzbekistan, a high prevalence of iodine deficiency disorders (IDD is being observed. As a result of epidemiological studies in 1998 and 2004 it was found that the prevalence of endemic goiter among children in the country was 64.5 and 51.6%, respectively. Dynamics of iodine deficiency decrease was associated with active work on liquidation of IDD: provision of salt-mining and salt-processing plants with iodizing equipment and potassium iodate, conducting of large-scale community health measures among different social gropus, on public enterprises and in private sector, carrying out of regular monitoring of iodine content in salt and urine. In May 2007 there was passed the law of Republic of Uzbekistan «About prevention of iodine deficiency disorders». In this work there was carried out the analysis of IDD in Khoresm region according to WHO recommendations, by sentinel method. It was revealed that prevalence of endemic goiter has been reduced to 38.7 % in 2012 (positive dymanics. We obtained data on the normal content of iodine in salt and urine — 75 and 60.6 %, respectively. Thus, it is found that the prevalence of IDD in the Khorezm region in the dynamics is reduced, although iodine deficiency remains severe.

  5. Reinforcement and stimulant medication ameliorate deficient response inhibition in children with Attention-Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Rosch, Keri S.; Fosco, Whitney D.; Pelham, William E.; Waxmonsky, James G.; Bubnik, Michelle G.; Hawk, Larry W.

    2015-01-01

    This study examined the degree to which reinforcement, stimulant medication, and their combination impact response inhibition in children with Attention-Deficit/Hyperactivity Disorder (ADHD). Across three studies, participants with ADHD (n=111, 25 girls) and typically-developing (TD) controls (n=33, 6 girls) completed a standard version of the stop signal task (SST) and/or a reinforcement-manipulation SST with performance-contingent points. In two of these studies, these tasks were performed under placebo or 0.3 and 0.6 mg/kg methylphenidate (MPH) conditions. Cross-study comparisons were conducted to test hypotheses regarding the separate and combined effects of reinforcement and methylphenidate on response inhibition among children with ADHD relative to TD controls. Baseline response inhibition was worse among children with ADHD compared to controls. MPH produced dose-related improvements in response inhibition in children with ADHD; compared to non-medicated TD controls, 0.3 mg/kg MPH normalized deficient response inhibition, and 0.6 mg/kg MPH resulted in better inhibition in children with ADHD. Reinforcement improved response inhibition to a greater extent for children with ADHD than for TD children, normalizing response inhibition. The combination of MPH and reinforcement improved response inhibition among children with ADHD compared to reinforcement alone and MPH alone, also resulting in normalization of response inhibition despite repeated task exposure. Deficient response inhibition commonly observed in children with ADHD is significantly improved with MPH and/or reinforcement, normalizing inhibition relative to TD children tested under standard conditions. PMID:25985978

  6. Is high prevalence of Vitamin D deficiency evidence for autism disorder?: In a highly endogamous population

    Science.gov (United States)

    Bener, Abdulbari; Khattab, Azhar O.; Al-Dabbagh, Mohamad M.

    2014-01-01

    Aim: To determine the association between Vitamin D and autism, and the difference in level of Vitamin D in autism children and control. Design: Case–control study conducted between June 2011 and May 2013, among autism at the Hamad Medical Corporation and controls at the School Health Clinics and Primary Health Care Clinics Subjects and Methods: A total of 254 cases and 254 controls. The Autism Diagnostic Observation Schedule-Generic is a semi-structured, standardized assessment of social interaction, communication, play and imaginative use of materials for individuals suspected of having autism spectrum disorders. Data on clinical manifestations and laboratory, family history, body mass index (BMI) and clinical biochemistry variables including serum 25-hydroxy Vitamin D, calcium, phosphorus and magnesium were obtained. Univariate and multivariate statistical analyzes were performed. Results: Of the total number of 508 children surveyed, 254 of autism and 254 of healthy children were contacted. The mean age (± standard deviation, in years) for autism versus control children was 5.51 ± 1.58 versus 5.76 ± 1.56. There were statistically significant differences between autism and healthy children control subjects with respect to educational level of mother (P = 0.016); occupation of mother (P = 0.005); BMI (P 30 ng/ml). Similarly, of the total 254 of healthy children 8.3% had severe Vitamin D deficiency (30 ng/ml). Furthermore, there was statistically significant differences between autism and control subjects with respect to the serum level of Vitamin D (P = 0.023). Conclusion: The present study revealed that Vitamin D deficiency was higher in autism children compared to healthy children and supplementing infants with Vitamin D might be a safe and more effective strategy for reducing the risk of autism. PMID:25624924

  7. Results of epidemiological studies on the prevalence of iodine deficiency disorders in the Republic of Uzbekistan

    Directory of Open Access Journals (Sweden)

    S.I. Ismailov

    2017-04-01

    Full Text Available Background. In spite of the works performed against iodine deficiency disorders (IDD, they still remain severe in Uzbekistan. The purpose of the study was to investigate the dynamics of the prevalence of IDD among the population in the Republic of Uzbekistan. Materials and methods. Epidemiological study of IDD in the Republic of Uzbekistan has been performed according to the World Health Organization (WHO recommendations. Degree of thyroid enlargement was determined according to the WHO classification. Such indexes, as assessment of urinary iodine concentration and evaluation of salt iodine concentration, have been analyzed. The data were compared with the results of previous years’ studies. Results. Estimation of the severity of IDD by the level of ioduria showed that the proportion of severe iodine deficiency (less than 20 μg/l decreased from 94.4 % in 1998 to 21.4 % in 2004, to 1.9 % in 2010 and to 1.9 % in 2016. The optimal level of iodine intake (more than 100 μg/l increased from 0 % in 1998 to 46.3 % in 2004, to 63.7 % in 2010 and 76.3 % in 2016. Comparative analysis of the prevalence of degree I and II diffuse goiter showed that in total the proportion of this disease was 72.8 % in 1998, 58.8 % in 2004, 40.2 % in 2010 and 28.3 % in 2016. Conclusions. The acceptance of law of Uzbekistan “On prevention of iodine deficiency diseases” in 2007 has substantially decreased the prevalence of IDD in Uzbekistan. Nevertheless, despite of large scale actions, our study of ioduria and salt iodine content in 2016 indicated that about 25 % of people in the country still prone to IDD.

  8. Composição mineral e sintomas visuais de deficiências de nutrientes em plantas de pimenta-longa (Piper hispidinervum C. DC. Mineral composition and visual symptoms of nutrients deficiencies in long pepper plants (Piper hispidinervum C. DC.

    Directory of Open Access Journals (Sweden)

    Ismael de Jesus Matos Veígas

    2013-03-01

    Full Text Available A pimenta-longa (Piper hispidinervum C. DC. é uma das principais fontes alternativas para a produção de safrol empregado como matéria prima na fabricação de inseticidas naturais e aromatizantes. O objetivo da pesquisa foi avaliar o efeito da omissão dos macronutrientes e micronutrientes, sobre a composição mineral de plantas de pimenta-longa, e caracterizar os sintomas de deficiências decorrentes dessa limitação, utilizando-se da técnica do elemento faltante. O experimento foi conduzido em casa de vegetação, com quatro repetições e doze tratamentos, completo e omissão individual de N, P, K, Ca, Mg, S, B, Cu, Fe, Mn e Zn em delineamento inteiramente ao acaso. Os valores dos teores foliares nos tratamentos com omissão dos nutrientes foram inferiores àqueles obtidos no tratamento completo. As omissões individuais dos nutrientes promoveram alterações na composição mineral de macro e micronutrientes. Os teores de macronutrientes (g kg-1 e micronutrientes (mg kg-1 obtidos nas folhas sem (completo e com sintomas de deficiências (omissões foram, respectivamente: N = 18,32; P = 7,02; K = 22,17; Ca = 15,75; Mg = 8,25; S = 5,12; B = 42,25; Fe = 325,00; Mn = 100; Zn = 61,50, com deficiência: N = 8,98; P = 2,52; K = 8,57; Ca = 10,20; Mg = 1,85; S = 0,90; B = 15,50; Fe = 234,00; Mn = 55; Zn = 53.The long pepper (Piper hispidinervum C. DC. is one of the main alternative sources for the production of safrol used as raw material in the manufacture of insecticides and natural flavoring. The objective of this research was to evaluate the effect of omission macronutrients and micronutrients, on the mineral composition of long pepper plants, and featuring the symptoms of deficiencies resulting from this limitation, using the missing element technique. The experiment was conducted in a greenhouse, with four replicates and twelve treatments, complete and individual omission of N, P, K, Ca, Mg, S, B, Cu, Fe, Mn and Zn in a completely

  9. Remote sensing of nutrient deficiency in Lactuca sativa using neural networks for terrestrial and advanced life support applications

    Science.gov (United States)

    Sears, Edie Seldon

    2000-12-01

    A remote sensing study using reflectance and fluorescence spectra of hydroponically grown Lactuca sativa (lettuce) canopies was conducted. An optical receiver was designed and constructed to interface with a commercial fiber optic spectrometer for data acquisition. Optical parameters were varied to determine effects of field of view and distance to target on vegetation stress assessment over the test plant growth cycle. Feedforward backpropagation neural networks (NN) were implemented to predict the presence of canopy stress. Effects of spatial and spectral resolutions on stress predictions of the neural network were also examined. Visual inspection and fresh mass values failed to differentiate among controls, plants cultivated with 25% of the recommended concentration of phosphorous (P), and those cultivated with 25% nitrogen (N) based on fresh mass and visual inspection. The NN's were trained on input vectors created using reflectance and test day, fluorescence and test day, and reflectance, fluorescence, and test day. Four networks were created representing four levels of spectral resolution: 100-nm NN, 10-nm NN, 1-nm NN, and 0.1-nm NN. The 10-nm resolution was found to be sufficient for classifying extreme nitrogen deficiency in freestanding hydroponic lettuce. As a result of leaf angle and canopy structure broadband scattering intensity in the 700-nm to 1000-nm range was found to be the most useful portion of the spectrum in this study. More subtle effects of "greenness" and fluorescence emission were believed to be obscured by canopy structure and leaf orientation. As field of view was not as found to be as significant as originally believed, systems implementing higher repetitions over more uniformly oriented, i.e. smaller, flatter, target areas would provide for more discernible neural network input vectors. It is believed that this technique holds considerable promise for early detection of extreme nitrogen deficiency. Further research is recommended using

  10. Iodine Deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2009-01-01

    Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Globally, it is estimated that 2 billion individuals have an insufficient iodine intake, and South Asia and sub-Saharan Africa are particularly affected.

  11. Neurogenetics and Nutrigenomics of Neuro-Nutrient Therapy for Reward Deficiency Syndrome (RDS): Clinical Ramifications as a Function of Molecular Neurobiological Mechanisms

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Stuller, Elizabeth; Miller, David; Giordano, John; Morse, Siobhan; McCormick, Lee; Downs, William B; Waite, Roger L; Barh, Debmalya; Neal, Dennis; Braverman, Eric R; Lohmann, Raquel; Borsten, Joan; Hauser, Mary; Han, David; Liu, Yijun; Helman, Manya; Simpatico, Thomas

    2013-01-01

    In accord with the new definition of addiction published by American Society of Addiction Medicine (ASAM) it is well-known that individuals who present to a treatment center involved in chemical dependency or other documented reward dependence behaviors have impaired brain reward circuitry. They have hypodopaminergic function due to genetic and/or environmental negative pressures upon the reward neuro-circuitry. This impairment leads to aberrant craving behavior and other behaviors such as Substance Use Disorder (SUD). Neurogenetic research in both animal and humans revealed that there is a well-defined cascade in the reward site of the brain that leads to normal dopamine release. This cascade has been termed the “Brain Reward Cascade” (BRC). Any impairment due to either genetics or environmental influences on this cascade will result in a reduced amount of dopamine release in the brain reward site. Manipulation of the BRC has been successfully achieved with neuro-nutrient therapy utilizing nutrigenomic principles. After over four decades of development, neuro-nutrient therapy has provided important clinical benefits when appropriately utilized. This is a review, with some illustrative case histories from a number of addiction professionals, of certain molecular neurobiological mechanisms which if ignored may lead to clinical complications. PMID:23926462

  12. Neurogenetics and Nutrigenomics of Neuro-Nutrient Therapy for Reward Deficiency Syndrome (RDS): Clinical Ramifications as a Function of Molecular Neurobiological Mechanisms.

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Stuller, Elizabeth; Miller, David; Giordano, John; Morse, Siobhan; McCormick, Lee; Downs, William B; Waite, Roger L; Barh, Debmalya; Neal, Dennis; Braverman, Eric R; Lohmann, Raquel; Borsten, Joan; Hauser, Mary; Han, David; Liu, Yijun; Helman, Manya; Simpatico, Thomas

    2012-11-27

    In accord with the new definition of addiction published by American Society of Addiction Medicine (ASAM) it is well-known that individuals who present to a treatment center involved in chemical dependency or other documented reward dependence behaviors have impaired brain reward circuitry. They have hypodopaminergic function due to genetic and/or environmental negative pressures upon the reward neuro-circuitry. This impairment leads to aberrant craving behavior and other behaviors such as Substance Use Disorder (SUD). Neurogenetic research in both animal and humans revealed that there is a well-defined cascade in the reward site of the brain that leads to normal dopamine release. This cascade has been termed the "Brain Reward Cascade" (BRC). Any impairment due to either genetics or environmental influences on this cascade will result in a reduced amount of dopamine release in the brain reward site. Manipulation of the BRC has been successfully achieved with neuro-nutrient therapy utilizing nutrigenomic principles. After over four decades of development, neuro-nutrient therapy has provided important clinical benefits when appropriately utilized. This is a review, with some illustrative case histories from a number of addiction professionals, of certain molecular neurobiological mechanisms which if ignored may lead to clinical complications.

  13. Regional gradients in surface sediment nitrogen isotopes as a reflection of nutrient cycling and oxygen deficiency in upwelling areas off Peru and Namibia (Invited)

    Science.gov (United States)

    Schneider, R. R.; Mollier-Vogel, E.; Martinez, P.

    2010-12-01

    The sedimentary d15N signal is commonly considered as a reflection of the marine nutrient cycling and related biochemical processes in the overlying water masses. In the modern ocean all processes together result in a mean d15N value of about 5 to 6 per mill for dissolved nitrate. Deviations from this value are considered as a product mainly of nitrogen fixation and nitrate supply causing lower values, while nitrate utilization and denitrification, as well as organic matter degradation tend to shift the signal to higher values. As denitrification is only occurring under conditions of strong oxygen limitation in the water column outstandingly high d15N values in sediment records are commonly taken as indirect evidence for strong oxygen minimum conditions in the past. By comparing surface sediment values from coastal upwelling areas off Namibia and Peru, we test whether such an approach is applicable. Only the Peruvian system is characterized by a pronounced oxygen minimum zone (OMZ) that extends across the shelf and slope far into the Eastern Equatorial Pacific. For comparison we present new results for the Peruvian margin between 2°N and 20°S within and below the Peruvian OMZ in combination with a similar data set from the Namibian margin with an OMZ restricted to the inner shelf. The Peruvian sediment data is furthermore compared to d15N of dissolved nitrate in the overlying water column to better understand how regional oceanography effects the water column d15N and thus the sediment surface signal. Productivity and nitrate uptake is maximal at the position of local and perennial upwelling cells in both systems. However, due to continuous nutrient supply into the upwelling systems sedimentary d15N values on the outer shelves and slopes reveal an increase of only about 2 to 3 per mill over the mean ocean value. Only where extreme oxygen deficiency occurs, as off Peru between 10 and 20 S, the sedimentary d15N signal reaches very high values above 10 per mill

  14. The high prevalence of anemia in Cambodian children and women cannot be satisfactorily explained by nutritional deficiencies or hemoglobin disorders

    DEFF Research Database (Denmark)

    Wieringa, Frank Tammo; Dahl, Miriam; Chamnan, Chhoun

    2016-01-01

    BACKGROUND: Anemia is highly prevalent in Cambodian women and children, but data on causes of anemia are scarce. We performed a national micronutrient survey in children and women that was linked to the Cambodian Demographic Health Survey 2014 (CDHS-2014) to assess the prevalence of micronutrient...... for 1512 subjects (792 children and 720 women). RESULTS: Anemia was found in 43% of the women and 53% of the children. Hemoglobin disorders affected >50% of the population, with Hemoglobin-E the most prevalent disorder. Deficiencies of iron (ferritin ... and hemoglobinopathy were significantly associated with anemia in children, whereas in the women none of the factors was significantly associated with anemia. Iron deficiency anemia (IDA) was more prevalent in children

  15. Nutrient and food group intakes of women with and without Bulimia Nervosa and Binge Eating Disorder during pregnancy

    Science.gov (United States)

    Siega-Riz, Anna Maria; Haugen, Margaretha; Meltzer, Helle M; Von Holle, Ann; Hamer, Robert; Torgersen, Leila; Knopf-Berg, Cecilie; Reichborn-Kjennerud, Ted; Bulik, Cynthia M

    2009-01-01

    Background Little is known concerning the dietary habits of eating disordered women during pregnancy that may lie in the causal pathway of adverse birth outcomes. Objective To examine the nutrient and food group intake of women with bulimia nervosa (BN) and binge eating disorder (BED) during pregnancy and compare their intake to women with no eating disorders. Design Data on 30,040 mother-child pairs are from the prospective Norwegian Mother and Child Cohort Study was used in cross-sectional analyses. Dietary information was collected using a food frequency questionnaire during the first half of pregnancy. Statistical testing by eating disorder categories with the non-eating disorder category as the referent group were conducted using log (means) adjusted for confounding and multiple comparisons. Food group differences were conducted using a Wilcoxon two-sided normal approximation test also adjusting for multiple comparisons. Results Women with BED before and during pregnancy had higher intakes of total energy, total mono-saturated and saturated fat, and lower intakes of folate, potassium, and vitamin C compared to the referent (p<.02). Women with incident BED during pregnancy had higher total energy and saturated fat intake compared to the referent (p=.01). Several differences emerged in food group consumption between women with and without eating disorders including intakes of artificial sweeteners, sweets, juice, fruits and fats. Conclusions Women with BN before and during pregnancy and those with BED before pregnancy exhibit dietary patterns different from women without eating disorders, that are reflective of their symptomatology, and may influence pregnancy outcomes. PMID:18469258

  16. Intact reflexive but deficient voluntary social orienting in autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Megan Anne Kirchgessner

    2015-12-01

    Full Text Available Impairment in social interactions is a primary characteristic of people diagnosed with autism spectrum disorder (ASD. Although these individuals tend to orient less to naturalistic social cues than do typically developing (TD individuals, laboratory experiments testing social orienting in ASD have been inconclusive, possibly because of a failure to fully isolate reflexive (stimulus-driven and voluntary (goal-directed social orienting processes. The purpose of the present study was to separately examine potential reflexive and/or voluntary social orienting differences in individuals with ASD relative to TD controls. Subjects (ages 7-14 with high-functioning ASD and a matched control group completed three gaze cueing tasks on an iPad in which individuals briefly saw a face with averted gaze followed by a target after a variable delay. Two tasks were 100% predictive with either all congruent (target appears in gaze direction or all incongruent (target appears opposite from gaze direction trials, respectively. Another task was non-predictive with these same trials (half congruent and half incongruent intermixed randomly. Response times (RTs to the target were used to calculate reflexive (incongruent condition RT – congruent condition RT and voluntary (non-predictive condition RT – predictive condition RT gaze cueing effects. Subjects also completed two additional non-social orienting tasks (ProPoint and AntiPoint. Subjects with ASD demonstrate intact reflexive but deficient voluntary gaze following. Similar results were found in a separate test of non-social orienting. This suggests problems with using social cues, but only in a goal-directed fashion, in our sample of high-functioning individuals with ASD. Such findings may not only explain inconclusive previous findings but more importantly be critical for understanding social dysfunctions in ASD and for developing future interventions.

  17. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

    Science.gov (United States)

    Jansen, Jos C; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A W; Holleboom, Adriaan G; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P H; Huynen, Martijn A; Veltman, Joris A; Wevers, Ron A; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J

    2016-02-04

    Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challenging. Exome sequencing in a family with three siblings affected by abnormal Golgi glycosylation revealed a homozygous missense mutation, c.92T>C (p.Leu31Ser), in coiled-coil domain containing 115 (CCDC115), the function of which is unknown. The same mutation was identified in three unrelated families, and in one family it was compound heterozygous in combination with a heterozygous deletion of CCDC115. An additional homozygous missense mutation, c.31G>T (p.Asp11Tyr), was found in a family with two affected siblings. All individuals displayed a storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms. Two individuals died of liver failure, and one individual was successfully treated by liver transplantation. Abnormal N- and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts, which was restored after complementation with wild-type CCDC115. PSI-BLAST homology detection revealed reciprocal homology with Vma22p, the yeast V-ATPase assembly factor located in the endoplasmic reticulum (ER). Human CCDC115 mainly localized to the ERGIC and to COPI vesicles, but not to the ER. These data, in combination with the phenotypic spectrum, which is distinct from that associated with defects in V-ATPase core subunits, suggest a more general role for CCDC115 in Golgi trafficking. Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal

  18. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

    Science.gov (United States)

    Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N; Grossfeld, Paul D; Manabe, Toshiya; Akiyama, Tetsu

    2016-03-16

    Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.

  19. Hybridization between crops and wild relatives: the contribution of cultivated lettuce to the vigour of crop-wild hybrids under drought, salinity and nutrient deficiency conditions.

    Science.gov (United States)

    Uwimana, Brigitte; Smulders, Marinus J M; Hooftman, Danny A P; Hartman, Yorike; van Tienderen, Peter H; Jansen, Johannes; McHale, Leah K; Michelmore, Richard W; van de Wiel, Clemens C M; Visser, Richard G F

    2012-10-01

    With the development of transgenic crop varieties, crop-wild hybridization has received considerable consideration with regard to the potential of transgenes to be transferred to wild species. Although many studies have shown that crops can hybridize with their wild relatives and that the resulting hybrids may show improved fitness over the wild parents, little is still known on the genetic contribution of the crop parent to the performance of the hybrids. In this study, we investigated the vigour of lettuce hybrids using 98 F(2:3) families from a cross between cultivated lettuce and its wild relative Lactuca serriola under non-stress conditions and under drought, salinity and nutrient deficiency. Using single nucleotide polymorphism markers, we mapped quantitative trait loci associated with plant vigour in the F(2:3) families and determined the allelic contribution of the two parents. Seventeen QTLs (quantitative trait loci) associated with vigour and six QTLs associated with the accumulation of ions (Na(+), Cl(-) and K(+)) were mapped on the nine linkage groups of lettuce. Seven of the vigour QTLs had a positive effect from the crop allele and six had a positive effect from the wild allele across treatments, and four QTLs had a positive effect from the crop allele in one treatment and from the wild allele in another treatment. Based on the allelic effect of the QTLs and their location on the genetic map, we could suggest genomic locations where transgene integration should be avoided when aiming at the mitigation of its persistence once crop-wild hybridization takes place.

  20. Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

    Directory of Open Access Journals (Sweden)

    Maricilda Palandi de Mello

    2011-12-01

    Full Text Available The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T to dihydrotestosterone (DHT, and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2 was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the patients were homozygous for p.Gln126Arg missense mutation, which results from the CGA > CAA nucleotide substitution. The molecular result confirmed clinical diagnosis of 46,XY disorder of sex development (DSD for the older sister and directed the investigation to other family members. Studies on SRD5A2 protein structure showed severe changes at NADPH binding region indicating that structural modeling analysis can be useful to evaluate the deleterious role of a mutation as causing 5α-reductase type II enzyme deficiency.

  1. Current status of iodine deficiency-related disorders prophylaxis in Slovakia - the life's work of Julian Podoba remained unfinished.

    Science.gov (United States)

    Podoba, J; Racova, K; Urbankova, H; Srbecky, M

    2016-01-01

    Prophylaxis of iodine deficiency-related disorders with iodized salt in Slovakia was introduced in 1951. This prophylactic measure yielded remarkably good results. Endemic goiter and endemic cretinism disappeared. Sufficient iodine intake, mainly in children and adolescents, was confirmed in several local and international studies carried out in the period 1991-95. Unfortunately, since seventies, there has been no institution which would have dealt with iodine prophylaxis in such an extent as this important measure of Slovak preventive medicine would require. Neither systematic monitoring of iodine intake nor systematic population epidemiological studies have been carried out. We do not have any data on the iodine intake in pregnant women, the most vulnerable population group in relation to the iodine deficiency. During the period June 2014 - October 2015, we examined iodine excretion in 426 probands from three regions of Slovakia with an emphasis on the pregnant women. Iodine intake was found to be sufficient, even more than adequate, in all age groups of Slovak population. The only population group with iodine intake borderline or very mild iodine deficiency are pregnant women. 1/ Iodine nutrition in Slovakia is generally sufficient, even oversteps the requirement, with the exception of pregnant women. Iodine intake in pregnant women should be fortified by iodine containing multivitamin preparations. 2/ We recommend to include the examination of urinary iodine into the screening of thyropathies in early pregnancy. 3/ It is not enough to implement the iodine deficiency-related disorders prevention programs, it is also necessary to stabilize such programs over time and balance the benefits with possible side effects of this program.

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine ... prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the current ...

  3. Omnivory and resource - sharing in nutrient - deficient Rio Negro waters: stabilization of biodiversity? Omnivoria e repartição de recursos em águas pobres em nutrientes da Bacia do Rio Negro

    Directory of Open Access Journals (Sweden)

    Ilse Walker

    2009-09-01

    Full Text Available Amazonian biodiversity is notorious, this is also valid for the fauna of the mineral-deficient waters of the Rio Negro System. Some 25 years of research on the benthic fauna of Central Amazonian streams resulted in species-rich foodwebs with a high degree of omnivory within dense animal communities. To exemplify the taxonomic range of omnivorous consumers, the detailed resource spectra of 18 consumer species, including Protozoa (2 species, Platyhelminthes (1 species, insects (2 species, fish (6 species and shrimps (Decapoda, 7 species, associated primarily with the benthic habitats of Rio Negro tributaries, are presented. Special features of omnivory are characterized, and the importance of litter-decomposing fungi as essential energy input into the foodwebs is documented. It is shown that general omnivory -diverse omnivore consumers sharing most of the resource types- is a prevalent feature. The relevance of this general omnivory for the maintenance of biodiversity is discussed.A biodiversidade do Amazonas é notório e isto também é válido para as águas pobres em nutrientes da bacia do Rio Negro. Uma pesquisa de 25 anos da fauna béntica de igarapés da Amazônia Central resultou em redes alimentares caraterizadas por alta diversidade de espécies, por intensa omnivoria e por alta densidade populacional. Para demonstrar a generalidade taxonômica de omnivoria no bentos dos igarapés, são apresentados as listas de presas / recursos de 18 espécies de consumidores, sendo Protozoa (2 epécies, Platyhelminthes (1 espécie, insetos (2 espécies, peixes (6 espécies e camarões (Decapoda, 7 espécies. Diferentes categorias de omnivoria são apresentados, e a importância de fungos decompositores da liteira submersa como input básico de energia nas redes alimentares é demonstrada. É prevalente a omnivoria geral, sendo que as diferentes espécies omnívoros estão utilizando os mesmos recursos. Considera- se a relevância desta omnivoria geral

  4. Mood disorder with mixed, psychotic features due to vitamin b12 deficiency in an adolescent: case report

    Directory of Open Access Journals (Sweden)

    Tufan Ali

    2012-06-01

    Full Text Available Abstract Vitamin B12 is one of the essential vitamins affecting various systems of the body. Reports of psychiatric disorders due to its deficiency mostly focus on middle aged and elderly patients. Here we report a case of vitamin B 12 deficiency in a 16-year old, male adolescent who presented with mixed mood disorder symptoms with psychotic features. Chief complaints were “irritability, regressive behavior, apathy, crying and truancy” which lasted for a year. Premorbid personality was unremarkable with no substance use/exposure or infections. No stressors were present. The patient was not vegetarian. Past medical history and family history was normal. Neurological examination revealed glossitis, ataxia, rigidity in both shoulders, cog-wheel rigidity in the left elbow, bilateral problems of coordination in cerebellar examination, reduced swinging of the arms and masked face. Romberg’s sign was present. Laboratory evaluations were normal. Endoscopy and biopsy revealed atrophy of the gastric mucosa with Helicobacter Pylori colonization. Schilling test was suggestive of malabsorbtion. He was diagnosed with Mood disorder with Mixed, Psychotic Features due to Vitamin B12 Deficiency and risperidone 0.5 mg/day and intramuscular vitamin B12 500 mcg/day were started along with referral for treatment of Helicobacter pylori. A visit on the second week revealed no psychotic features. Romberg’s sign was negative and cerebellar tests were normal. Extrapyramidal symptoms were reduced while Vitamin B12 levels were elevated. Risperidone was stopped and parenteral Vitamin B12 treatment was continued with monthly injections for 3 months. Follow-up endoscopy and biopsy at the first month demonstrated eradication of H. pylori. He was followed monthly for another 6 months and psychiatric symptoms did not recur at the time of last evaluation. Despite limitations, this case may underline the observation that mood disorders with psychotic features

  5. Vitamin D Deficiency in Obsessive-Compulsive Disorder Patients with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: A Case Control Study.

    Science.gov (United States)

    Çelik, Gonca; Taş, Didem; Tahiroğlu, Ayşegül; Avci, Ayşe; Yüksel, Bilgin; Çam, Perihan

    2016-03-01

    Previous studies have indicated that vitamin D deficiency is common in psychiatric patients, particularly in those with neuropsychiatric disorders such as autism and schizophrenia. Vitamin D is an important neurosteroid hormone and immunomodulatory agent that also has bone metabolic effects. There has been an increasing interest in immune-related neuropsychiatric symptoms that are triggered by group A beta-hemolytic streptococcal infections. In this study, we aimed to compare the serum levels of vitamin D between obsessive-compulsive disorder (OCD) patients with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) and control subjects. Thirty-three OCD patients with PANDAS and 20 healthy controls were enrolled in the study. Serum 25-hydroxyvitamin D (25-(OH) D), calcium, phosphorus, alkaline phosphatase, and parathormone levels of the two groups were compared. Serum 25-(OH) D levels of vitamin D deficiency. The children's Yale-Brown Obsessive Compulsive Scale (YBOCS) and Clinical Global Impression (CGI) were used to assess the severity of OCD symptoms. There was no significant difference in serum 25-(OH) D levels between the patient and control groups. However, vitamin D deficiency was significantly more frequent in the patient group than in the control group (48.5% vs. 20.0%; p=0.038). Moreover, OCD patients with vitamin D deficiency had higher rates of comorbid ADHD than those without vitamin D deficiency (87.5% vs. 52.6%; p=0.027). While serum phosphorus levels were negatively correlated with age as well as alkaline phosphatase and ASO levels, they were positively correlated with the YBOCS total score and global severity score. Serum parathormone levels were positively correlated with the YBOCS total score, compulsion score, obsession score, and global severity score. This study supports the hypothesis that an association between vitamin D metabolism and PANDAS-related OCD exists. We suggest that biochemical

  6. Characterization of nutrient disorders of gerbera hybrid 'Festival Light Eye Pink'

    Science.gov (United States)

    Gerbera hybrid ‘Festival Yellow with Light Eye’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4...

  7. Factor VII deficiency

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000548.htm Factor VII deficiency To use the sharing features on this page, please enable JavaScript. Factor VII (seven) deficiency is a disorder caused by a ...

  8. Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    Leen, Wilhelmina G.; Klepper, Joerg; Verbeek, Marcel M.; Leferink, Maike; Hofste, Tom; van Engelen, Baziel G.; Wevers, Ron A.; Arthur, Todd; Bahi-Buisson, Nadia; Ballhausen, Diana; Bekhof, Jolita; van Bogaert, Patrick; Carrilho, Ines; Chabrol, Brigitte; Champion, Michael P.; Coldwell, James; Clayton, Peter; Donner, Elizabeth; Evangeliou, Athanasios; Ebinger, Friedrich; Farrell, Kevin; Forsyth, Rob J.; de Goede, Christian G. E. L.; Gross, Stephanie; Grunewald, Stephanie; Holthausen, Hans; Jayawant, Sandeep; Lachlan, Katherine; Laugel, Vincent; Leppig, Kathy; Lim, Ming J.; Mancini, Grazia; Della Marina, Adela; Martorell, Loreto; McMenamin, Joe; Meuwissen, Marije E. C.; Mundy, Helen; Nilsson, Nils O.; Panzer, Axel; Poll-The, Bwee T.; Rauscher, Christian; Rouselle, Christophe M. R.; Sandvig, Inger; Scheffner, Thomas; Sheridan, Eamonn; Simpson, Neil; Sykora, Parol; Tomlinson, Richard; Trounce, John; Webb, David; Weschke, Bernhard; Scheffer, Hans; Willemsen, Michel A.

    Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex

  9. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    W.G. Leen (Wilhelmina); J. Klepper (Joerg); M.M. Verbeek (Marcel); M. Leferink (Maike); T. Hofste (Tom); B.G.M. van Engelen (Baziel); R.A. Wevers (Ron); T. Arthur (Todd); N. Bahi-Buisson (Nadia); D. Ballhausen (Diana); J. Bekhof (Jolita); P. van Bogaert (Patrick); I. Carrilho (Inês); B. Chabrol (Brigitte); M.P. Champion (Michael); J. Coldwell (James); P. Clayton (Peter); E. Donner (Elizabeth); A. Evangeliou (Athanasios); F. Ebinger (Friedrich); K. Farrell (Kevin); R.J. Forsyth (Rob); C.G.E.L. de Goede (Christian); S. Gross (Stephanie); S. Grünewald (Sonja); H. Holthausen (Hans); S. Jayawant (Sandeep); K. Lachlan (Katherine); V. Laugel (Vincent); K. Leppig (Kathy); M.J. Lim (Ming); G.M.S. Mancini (Grazia); A.D. Marina; L. Martorell (Loreto); J. McMenamin (Joe); M.E.C. Meuwissen (Marije); H. Mundy (Helen); N.O. Nilsson (Nils); A. Panzer (Axel); B.T. Poll-The; C. Rauscher (Christian); C.M.R. Rouselle (Christophe); I. Sandvig (Inger); T. Scheffner (Thomas); E. Sheridan (Eamonn); N. Simpson (Neil); P. Sykora (Parol); R. Tomlinson (Richard); J. Trounce (John); D.W.M. Webb (David); B. Weschke (Bernhard); H. Scheffer (Hans); M.A. Willemsen (Michél)

    2010-01-01

    textabstractGlucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing

  10. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    Leen, Wilhelmina G.; Klepper, Joerg; Verbeek, Marcel M.; Leferink, Maike; Hofste, Tom; van Engelen, Baziel G.; Wevers, Ron A.; Arthur, Todd; Bahi-Buisson, Nadia; Ballhausen, Diana; Bekhof, Jolita; van Bogaert, Patrick; Carrilho, Inês; Chabrol, Brigitte; Champion, Michael P.; Coldwell, James; Clayton, Peter; Donner, Elizabeth; Evangeliou, Athanasios; Ebinger, Friedrich; Farrell, Kevin; Forsyth, Rob J.; de Goede, Christian G. E. L.; Gross, Stephanie; Grunewald, Stephanie; Holthausen, Hans; Jayawant, Sandeep; Lachlan, Katherine; Laugel, Vincent; Leppig, Kathy; Lim, Ming J.; Mancini, Grazia; Marina, Adela Della; Martorell, Loreto; McMenamin, Joe; Meuwissen, Marije E. C.; Mundy, Helen; Nilsson, Nils O.; Panzer, Axel; Poll-The, Bwee T.; Rauscher, Christian; Rouselle, Christophe M. R.; Sandvig, Inger; Scheffner, Thomas; Sheridan, Eamonn; Simpson, Neil; Sykora, Parol; Tomlinson, Richard; Trounce, John; Webb, David; Weschke, Bernhard; Scheffer, Hans; Willemsen, Michél A.

    2010-01-01

    Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex

  11. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

    NARCIS (Netherlands)

    Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T.; Engelen, B.G.M. van; Wevers, R.A.; Arthur, T.; Bahi-Buisson, N.; Ballhausen, D.; Bekhof, J.; Bogaert, P. van; Carrilho, I.; Chabrol, B.; Champion, M.P.; Coldwell, J.; Clayton, P.; Donner, E.; Evangeliou, A.; Ebinger, F.; Farrell, K.; Forsyth, R.J.; Goede, C.G. de; Gross, S.; Grunewald, S.; Holthausen, H.; Jayawant, S.; Lachlan, K.; Laugel, V.; Leppig, K.; Lim, M.J.; Mancini, G.; Marina, A.D.; Martorell, L.; McMenamin, J.; Meuwissen, M.E.; Mundy, H.; Nilsson, N.O.; Panzer, A.; Poll-The, B.T.; Rauscher, C.; Rouselle, C.M.; Sandvig, I.; Scheffner, T.; Sheridan, E.; Simpson, N.; Sykora, P.; Tomlinson, R.; Trounce, J.; Webb, D.; Weschke, B.; Scheffer, H.; Willemsen, M.A.A.P.

    2010-01-01

    Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex

  12. Neuronal Glucose Transporter Isoform 3 Deficient Mice Demonstrate Features of Autism Spectrum Disorders

    OpenAIRE

    Zhao, Yuanzi; Fung, Camille; Shin, Don; Shin, Bo-Chul; Thamotharan, Shanthie; Sankar, Raman; Ehninger, Dan; Silva, Alcino; Devaskar, Sherin U.

    2009-01-01

    Neuronal glucose transporter (GLUT) isoform 3 deficiency in null heterozygous mice led to abnormal spatial learning and working memory but normal acquisition and retrieval during contextual conditioning, abnormal cognitive flexibility with intact gross motor ability, electroencephalographic seizures, perturbed social behavior with reduced vocalization and stereotypies at low frequency. This phenotypic expression is unique as it combines the neurobehavioral with the epileptiform characteristic...

  13. X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

    NARCIS (Netherlands)

    Hathaway, S.C.; Friez, M.; Limbo, K.; Parker, C.; Salomons, G.S.; Vockley, J.; Wood, T.; Abdul-Rahman, O.A.

    2010-01-01

    X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a

  14. 25-hydroxy vitamin D levels, vitamin D deficiency and insufficiency in patients with bone and musculoskeletal disorders

    Directory of Open Access Journals (Sweden)

    V.V. Povoroznyuk

    2017-08-01

    Full Text Available Background. Vitamin D deficiency is prevalent in all the world countries. Recent studies show the correlation between vitamin D deficiency and musculoskeletal disorders. The purpose of this study is to examine vitamin D deficiency and insufficiency prevalence in patients of various ages, who have musculoskeletal disorders, and to reveal the influence of seasonal factors on these conditions. Materials and methods. 3460 patients of the Ukrainian Scientific Medical Center of Osteoporosis Problems, aged 1 to 92 years, who were referred by other specialists to the center for bone state evaluation, were examined. A majority of the patients presented with osteoporosis and its complications, spinal osteochondrosis, knee and hip osteoarthritis (mean age — 52.90 ± 21.10 years. Most of the patients were women (83.5 %. 25(ОНD and parathyroid hormone analyses were performed by means of electrochemiluminescent method (Elecsys 2010 analyzer, Roche Diagnostics, Germany and cobas test-systems. Statistica 6.0 software package (Copyright StatSoft, Inc., 1984–2001 was also used. Results. Among the patients with musculoskeletal pathology, the highest 25(ОНD level was noted in the age group of 1–9 years and the lowest — in the age group of 80 and over. Age negatively influenced 25(ОНD values. Prevalence of vitamin D deficiency among the patients with musculoskeletal pathology was 37.3 %, vitamin D insufficiency — 30.6 %; 32.1 % of patients had normal vitamin D status. Normal 25(OHD level was found in 38.0 % of children, 33.2 % of adults and in 29.6 % of elderly patients. Month of blood sampling had a significant influence on 25(ОНD content (F = 7.49; p < 0.001. The highest significant differences in 25(ОНD levels during the summer vs. winter months were observed in the age groups of 10–19 (18.2 %, 40–49 (17.3 %, 30–39 (16.2 % и 1–9 years (16.1 %. There were no significant seasonal differences observed in the elderly patients (60

  15. Vitamin D Deficiency and a Blunted Parathyroid Hormone Response in Children with Attention-Deficit/Hyperactivity Disorder.

    Science.gov (United States)

    Avcil, Sibelnur; Uysal, Pinar; Yilmaz, Mustafa; Erge, Duygu; Demirkaya, Sevcan K; Eren, Esra

    2017-03-01

    Attention-deficit/hyperactivity disorder (ADHD) is the most frequently diagnosed neuropsychiatric disorder of childhood. The etiopathogenesis of ADHD has not been fully defined. Recent evidence has suggested a pathophysiological role of vitamin D deficiency in ADHD. In this study, we evaluated the serum levels of 25-hydroxy vitamin D (25(OH)D), parathyroid hormone (PTH), calcium (Ca), phosphate (P), and alkaline phosphatase (ALP) in children with ADHD. The study group consisted of 105 children diagnosed with ADHD according to DSM-IV-TR criteria. A control group, matched for age and gender, was composed of 95 healthy children. Venous blood samples were collected, and 25(OH)D, PTH, Ca, P, and ALP levels were measured. The mean serum 25(OH)D, Ca, and P levels of the children with ADHD were significantly lower than those of the healthy controls. There were no significant differences between the groups regarding PTH and ALP. Serum PTH levels were found to be normal, but vitamin D deficiency, hypocalcemia, and hypophosphatemia were observed in children with ADHD. There was no correlation between serum PTH and Ca levels in children with ADHD, whereas, there was a negative correlation between serum PTH and Ca levels in healthy controls. There was no correlation between serum 25(OH)D and PTH levels in children with ADHD, whereas, there was a negative correlation between serum 25(OH)D and PTH levels in healthy controls. There were no significant differences in all parameters' levels among the subtypes of ADHD. The findings suggest that ADHD is associated with vitamin D deficiency, blunted PTH response, and impaired Ca homeostasis in children.

  16. Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.

    Science.gov (United States)

    Tonini, Maria Clara; Bignamini, V; Mattioli, M

    2011-05-01

    An enzymatic abnormality of the urea cycle is a metabolic disorder occasionally seen in adults, but particularly in the puerperium. The main risk is acute hyperammoniemic encephalopathy, leading to psychosis, coma and even death if not diagnosed promptly and treated appropriately. Headache is frequent in the puerperium normally manifesting between 3 and 6 days after delivery. We describe here a 39-year-old woman, who 3 days after delivery presented diffuse tension-type headache and depression, followed by behavioral disorders, psychomotor agitation, epileptic seizures, and finally coma 2 days later. Pregnancy and normal delivery: routine blood chemistry findings, CT scan, MR imaging, angio-MR of the brain, and lumbar puncture were normal. EEG when seizures started, it showed diffuse slowing, as in the case of metabolic encephalopathy. This led us to assay blood ammonia, which was high at >400 mmol. Liver function and abdominal US were normal; hence, we suspected a urea cycle enzymatic abnormality, and requested for genetic tests. These confirmed a congenital primary metabolic deficiency of arginine succinate synthetase, with high citrullinemia (type II, adult form). Dialysis was started promptly, with initially iv arginine, then orally, plus medical therapy for the hyperammoniemia and a low protein diet; plasma ammonia dropped swiftly to normal, and her state of consciousness gradually improved until all the clinical symptoms had resolved. Ammonia assay should always be considered in the first few days of the puerperium in women with headache and behavioral disorders, to exclude an inborn deficiency of the urea cycle, which may have gone unnoticed until then.

  17. Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders.

    Science.gov (United States)

    Schneider, Patrick; Petzold, Sandra; Sommer, Angela; Nitsch, Robert; Schwegler, Herbert; Vogt, Johannes; Roskoden, Thomas

    2018-01-15

    Plasticity related gene 1 (PRG-1) is a neuron specific membrane protein located at the postsynaptic density of glutamatergic synapses. PRG-1 modulates signaling pathways of phosphorylated lipid substrates such as lysophosphatidic acid (LPA). Deletion of PRG-1 increases presynaptic glutamate release probability leading to neuronal over-excitation. However, due to its cortical expression, PRG-1 deficiency leading to increased glutamatergic transmission is supposed to also affect motor pathways. We therefore analyzed the effects of PRG-1 function on exploratory and motor behavior using homozygous PRG-1 knockout (PRG-1 -/- ) mice and PRG-1/LPA 2 -receptor double knockout (PRG-1 -/- /LPA 2 -/- ) mice in two open field settings of different size and assessing motor behavior in the Rota Rod test. PRG-1 -/- mice displayed significantly longer path lengths and higher running speed in both open field conditions. In addition, PRG-1 -/- mice spent significantly longer time in the larger open field and displayed rearing and self-grooming behavior. Furthermore PRG-1 -/- mice displayed stereotypical behavior resembling phenotypes of psychiatric disorders in the smaller sized open field arena. Altogether, this behavior is similar to the stereotypical behavior observed in animal models for psychiatric disease of autistic spectrum disorders which reflects a disrupted balance between glutamatergic and GABAergic synapses. These differences indicate an altered excitation/inhibition balance in neuronal circuits in PRG-1 -/- mice as recently shown in the somatosensory cortex [38]. In contrast, PRG-1 -/- /LPA 2 -/- did not show significant changes in behavior in the open field suggesting that these specific alterations were abolished when the LPA 2 -receptor was lacking. Our findings indicate that PRG-1 deficiency led to over-excitability caused by an altered LPA/LPA 2 -R signaling inducing a behavioral phenotype typically observed in animal models for psychiatric disorders. Copyright

  18. [The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

    Science.gov (United States)

    Jakimiuk, Artur J; Szamatowicz, Jacek

    2014-01-01

    Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

  19. Chapter 29: historical aspects of the major neurological vitamin deficiency disorders: overview and fat-soluble vitamin A.

    Science.gov (United States)

    Lanska, Douglas J

    2010-01-01

    The vitamine doctrine: Although diseases resulting from vitamin deficiencies have been known for millennia, such disorders were generally attributed to toxic or infectious causes until the "vitamin doctrine" was developed in the early 20th century. In the late-19th century, a physiologically complete diet was believed to require only sufficient proteins, carbohydrates, fats, inorganic salts, and water. From 1880-1912, Lunin, Pekelharing, and Hopkins found that animals fed purified mixtures of known food components failed to grow or even lost weight and died, unless the diet was supplemented with small amounts of milk, suggesting that "accessory food factors" are required in trace amounts for normal growth. By this time, Funk suggested that deficiencies of trace dietary factors, which he labeled "vitamines" on the mistaken notion that they were "vital amines," were responsible for such diseases as beriberi, scurvy, rickets, and pellagra. Vitamin A deficiency eye disease: Night blindness was recognized by the ancient Egyptians and Greeks, and many authorities from Galen onward advocated liver as a curative. Outbreaks of night blindness were linked to nutritional causes in the 18th and 19th centuries by von Bergen, Schwarz, and others. Corneal ulceration was reported in 1817 by Magendie among vitamin A-deficient dogs fed for several weeks on a diet limited to sugar and water, although he erroneously attributed this to a deficiency of dietary nitrogen (i.e. protein). Subsequently, corneal epithelial defects, often in association with night blindness, were recognized in malnourished individuals subsisting on diets now recognizable as deficient in vitamin A by Budd, Livingstone, von Hubbenet, Bitot, Mori, Ishihari, and others. During World War I, Bloch conducted a controlled clinical trial of different diets among malnourished Danish children with night blindness and keratomalacia and concluded that whole milk, butter, and cod-liver oil contain a fat-soluble substance

  20. Disorders of bone-mineral metabolism and their correction with women who have body weight deficiency at pregravid stage and during pregnancy

    Directory of Open Access Journals (Sweden)

    L. P. Shelestova

    2017-10-01

    Full Text Available The processes in bone-mineral metabolism provide normal course of pregnancy, labour and fetus development, women with body weight deficiency are at risk reduction of bone tissue mineral density, progressing of osteopenia and osteoporosis. This shows the necessity of medical and preventive measures that have the aim to correct calcium- phosphorus and bone metabolism with women who have body weight deficiency. Aim. To elaborate and to evaluate medical and preventive measures that have the aim to correct disorders in bone-mineral metabolism with women who have body weight deficiency at pregravid stage and during pregnancy. Materials and methods. The efficiency of adding combined medicine of calcium carbonate and cholecalciferol and dietary nourishment to traditional treatment that affected the state of bone-mineral metabolism with women who have body weight deficiency at pregravid stage and during pregnancy was studied. Results. With women who have body weight deficiency at pregravid stage and during pregnancy it is noted statistically considerable reduction in blood of total calcium and bone tissue markers that grows with the course of gestation. The changes in mineral density of bone tissue can be seen from the existence of osteopenic syndrome at pregravid stage that occurs with every third woman who has body weight deficiency and with every second before labour. The use of elaborated medical and preventive measures including combined medicine of calcium carbonate and cholecalciferol allows to normalize the indexes of bone-mineral metabolism with women who have body weight deficiency. Conclusions. Women with body weight deficiency already at pregravid stage have disorders in bone metabolism and coming of pregnancy lead to aggravation of bone metabolism disorders. The additional use of combined medicine of calcium carbonate and cholecalciferol and dietary nourishment made the indexes of calcium-phosphorus and bone metabolism better and osteopenic

  1. Color vision deficiency compensation for Visual Processing Disorder using Hardy-Rand-Rittler test and color transformation

    Science.gov (United States)

    Balbin, Jessie R.; Pinugu, Jasmine Nadja J.; Bautista, Joshua Ian C.; Nebres, Pauline D.; Rey Hipolito, Cipriano M.; Santella, Jose Anthony A.

    2017-06-01

    Visual processing skill is used to gather visual information from environment however, there are cases that Visual Processing Disorder (VPD) occurs. The so called visual figure-ground discrimination is a type of VPD where color is one of the factors that contributes on this type. In line with this, color plays a vital role in everyday living, but individuals that have limited and inaccurate color perception suffers from Color Vision Deficiency (CVD) and still not aware on their case. To resolve this case, this study focuses on the design of KULAY, a Head-Mounted Display (HMD) device that can assess whether a user has a CVD or not thru the standard Hardy-Rand-Rittler (HRR) test. This test uses pattern recognition in order to evaluate the user. In addition, color vision deficiency simulation and color correction thru color transformation is also a concern of this research. This will enable people with normal color vision to know how color vision deficient perceives and vice-versa. For the accuracy of the simulated HRR assessment, its results were validated thru an actual assessment done by a doctor. Moreover, for the preciseness of color transformation, Structural Similarity Index Method (SSIM) was used to compare the simulated CVD images and the color corrected images to other reference sources. The output of the simulated HRR assessment and color transformation shows very promising results indicating effectiveness and efficiency of the study. Thus, due to its form factor and portability, this device is beneficial in the field of medicine and technology.

  2. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

    Science.gov (United States)

    Yilmaz, Sanem; Serin, Mine; Canda, Ebru; Eraslan, Cenk; Tekin, Hande; Ucar, Sema Kalkan; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, Gul

    2017-06-01

    Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.

  3. Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.

    Science.gov (United States)

    Diez-Fernandez, Carmen; Häberle, Johannes

    2017-04-01

    Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients. Over recent decades, therapies for CPS1D have barely improved leaving the management of these patients largely unchanged. Additionally, in many cases, current management (protein-restriction and supplementation with citrulline and/or arginine and ammonia scavengers) is insufficient for achieving metabolic stability, highlighting the importance of developing alternative therapeutic approaches. Areas covered: After describing UCDs and CPS1D, we give an overview of the structure- function of CPS1. We then describe current management and potential novel treatments including N-carbamoyl-L-glutamate (NCG), pharmacological chaperones, and gene therapy to treat hyperammonemia. Expert opinion: Probably, the first novel CPS1D therapies to reach the clinics will be the already commercial substance NCG, which is the standard treatment for N-acetylglutamate synthase deficiency and has been proven to rescue specific CPS1D mutations. Pharmacological chaperones and gene therapy are under development too, but these two technologies still have key challenges to be overcome. In addition, current experimental therapies will hopefully add further treatment options.

  4. The Effects of Sinapic Acid on the Development of Metabolic Disorders Induced by Estrogen Deficiency in Rats

    Directory of Open Access Journals (Sweden)

    Maria Zych

    2018-01-01

    Full Text Available Sinapic acid is a natural phenolic acid found in fruits, vegetables, and cereals, exerting numerous pharmacological effects. The aim of the study was to investigate the influence of sinapic acid on biochemical parameters related to glucose and lipid metabolism, as well as markers of antioxidant abilities and parameters of oxidative damage in the blood serum in estrogen-deficient rats. The study was performed on 3-month-old female Wistar rats, divided into 5 groups, including sham-operated control rats, ovariectomized control rats, and ovariectomized rats administered orally with estradiol (0.2 mg/kg or sinapic acid (5 and 25 mg/kg for 28 days. The levels of estradiol, progesterone, interleukin 18, insulin, glucose, fructosamine, lipids, and enzymatic and nonenzymatic antioxidants (superoxide dismutase, catalase, and glutathione; total antioxidant capacity; and oxidative damage parameters (thiobarbituric acid-reactive substances, protein carbonyl groups, and advanced oxidation protein products were determined in the serum. Estradiol counteracted the carbohydrate and cholesterol metabolism disorders induced by estrogen deficiency. Sinapic acid increased the serum estradiol concentration; decreased insulin resistance and the triglyceride and total cholesterol concentrations; and favorably affected the parameters of antioxidant abilities (reduced glutathione, superoxide dismutase and oxidative damage (advanced oxidation protein products.

  5. Bipolar and Related Disorders Induced by Sodium 4-Phenylbutyrate in a Male Adolescent with Bile Salt Export Pump Deficiency Disease.

    Science.gov (United States)

    Vitale, Giovanni; Simonetti, Giulia; Pirillo, Martina; Taruschio, Gianfranco; Andreone, Pietro

    2016-09-01

    Bile Salt Export Pump (BSEP) Deficiency disease, including Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2), is a rare disease, usually leading within the first ten years to portal hypertension, liver failure, hepatocellular carcinoma. Often liver transplantation is needed. Sodium 4-phenylbutyrate (4-PB) seems to be a potential therapeutic compound for PFIC2. Psychiatric side effects in the adolescent population are little known and little studied since the drug used to treat children and infants. So we described a case of Caucasian boy, suffering from a late onset PFIC2, listed for a liver transplant when he was sixteen and treated with 4-FB (200 mg per kilogram of body weight per day). The drug was discontinued for the onset of bipolar and related disorders. This case illustrates possible psychiatric side effects of the drug.

  6. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

    Directory of Open Access Journals (Sweden)

    Jaime Chu

    2013-01-01

    Individuals with congenital disorders of glycosylation (CDG have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked oligosaccharide (LLO, which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI enzyme. Individuals who are deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. Because Mpi deletion in mice causes early embryonic lethality and thus is difficult to study, we used zebrafish to establish a model of MPI-CDG. We used a morpholino to block mpi mRNA translation and established a concentration that consistently yielded 13% residual Mpi enzyme activity at 4 days post-fertilization (dpf, which is within the range of MPI activity detected in fibroblasts from MPI-CDG patients. Fluorophore-assisted carbohydrate electrophoresis detected decreased LLO and N-glycans in mpi morphants. These deficiencies resulted in 50% embryonic lethality by 4 dpf. Multi-systemic abnormalities, including small eyes, dysmorphic jaws, pericardial edema, a small liver and curled tails, occurred in 82% of the surviving larvae. Importantly, these phenotypes could be rescued with mannose supplementation. Thus, parallel processes in fish and humans contribute to the phenotypes caused by Mpi depletion. Interestingly, mannose was only effective if provided prior to 24 hpf. These data provide insight into treatment efficacy

  7. Endocrine and metabolic disorders associated with human immune deficiency virus infection.

    Science.gov (United States)

    Unachukwu, C N; Uchenna, D I; Young, E E

    2009-01-01

    Many reports have described endocrine and metabolic disorders in the human immunodeficiency virus (HIV) infection. This article reviewed various reports in the literature in order to increase the awareness and thus the need for early intervention when necessary. Data were obtained from MEDLINE, Google search and otherjournals on 'HIV, Endocrinopathies/Metabolic Disorders' from 1985 till 2007. Studies related to HIV associated endocrinopathies and metabolic disorders in the last two decades were reviewed. Information on epidemiology, pathogenesis, diagnosis and treatment of the target organ endocrinopathies and metabolic disorders in HIV/AIDS were extracted from relevant literature. Endocrine and metabolic disturbances occur in the course of HIV infection. Pathogenesis includes direct infection of endocrine glands by HIV or opportunistic organisms, infiltration by neoplasms and side effects of drugs. Adrenal insufficiency is the commonest HIV endocrinopathy with cytomegalovirus adrenalitis occurring in 40-88% of cases. Thyroid dysfunction may occur as euthyroid sick syndrome or sub-clinical hypothyroidism. Hypogonadotrophic dysfunction accounts for 75% of HIV-associated hypogonadism, with prolonged amenorrhoea being three times more likely in the women. Pancreatic dysfunction may result in hypoglycaemia or diabetes mellitus (DM). Highly active antiretroviral therapy (HAART) especially protease inhibitors has been noted to result in insulin resistance and lipodystrophy. Virtually every endocrine organ is involved in the course of HIV infection. Detailed endocrinological and metabolic evaluation and appropriate treatment is necessary in the optimal management of patients with HIV infection in our environment.

  8. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    NARCIS (Netherlands)

    Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J.

    2016-01-01

    Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are

  9. Nutritional and Acquired Deficiencies in Inositol Bioavailability. Correlations with Metabolic Disorders

    Directory of Open Access Journals (Sweden)

    Simona Dinicola

    2017-10-01

    Full Text Available Communities eating a western-like diet, rich in fat, sugar and significantly deprived of fibers, share a relevant increased risk of both metabolic and cancerous diseases. Even more remarkable is that a low-fiber diet lacks some key components—as phytates and inositols—for which a mechanistic link has been clearly established in the pathogenesis of both cancer and metabolic illness. Reduced bioavailability of inositol in living organisms could arise from reduced food supply or from metabolism deregulation. Inositol deregulation has been found in a number of conditions mechanistically and epidemiologically associated to high-glucose diets or altered glucose metabolism. Indeed, high glucose levels hinder inositol availability by increasing its degradation and by inhibiting both myo-Ins biosynthesis and absorption. These underappreciated mechanisms may likely account for acquired, metabolic deficiency in inositol bioavailability.

  10. Wachstumsstörung bei SHOX-Defizienz // SHOX Deficiency Disorders

    Directory of Open Access Journals (Sweden)

    Steichen-Gersdorf E

    2016-01-01

    Full Text Available SHOX haploinsufficiency has been reported in some individuals with idiopathic short stature. The clinical phenotype covers the spectrum from idiopathic short stature, mesomelic short stature to Leri-Weill syndrome. The skeletal dysproportion increases from early childhood to adulthood. The phenotype is variable even within families. Growth hormone treatment increases height in patients with SHOX deficiency. p bKurzfassung:/b Die SHOX-Defizienz ist eine wesentliche Ursache für Kleinwuchs. Der klinische Schweregrad reicht vom idiopathischen Kleinwuchs bis zum Leri-Weill-Syndrom mit mesomelem Kleinwuchs und Madelung-Deformität. Eine zunehmende Störung der Körperproportionen mit mesomeler Verkürzung der Gliedmaßen wird erst im Schulalter evident. Der Phänotyp einer SHOX-Defizienz ist sehr variabel, auch innerhalb von Familien. Diese Form der Wachstumsstörung stellt eine anerkannte Indikation für eine Wachstumshormontherapie dar.

  11. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

    Science.gov (United States)

    Graham, John M

    2012-05-01

    Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  12. Poliovirus excretion among persons with primary immune deficiency disorders: summary of a seven-country study series.

    Science.gov (United States)

    Li, Li; Ivanova, Olga; Driss, Nadia; Tiongco-Recto, Marysia; da Silva, Rajiva; Shahmahmoodi, Shohreh; Sazzad, Hossain M S; Mach, Ondrej; Kahn, Anna-Lea; Sutter, Roland W

    2014-11-01

    Persons with primary immune deficiency disorders (PID), especially those disorders affecting the B-cell system, are at substantially increased risk of paralytic poliomyelitis and can excrete poliovirus chronically. However, the risk of prolonged or chronic excretion is not well characterized in developing countries. We present a summary of a country study series on poliovirus excretion among PID cases. Cases with PID from participating institutions were enrolled during the first year and after obtaining informed consent were tested for polioviruses in stool samples. Those cases excreting poliovirus were followed on a monthly basis during the second year until 2 negative stool samples were obtained. A total of 562 cases were enrolled in Bangladesh, China, Iran, Philippines, Russia, Sri Lanka, and Tunisia during 2008-2013. Of these, 17 (3%) shed poliovirus, including 2 cases with immunodeficient vaccine-derived poliovirus. Poliovirus was detected in a single sample from 5/17 (29%) cases. One case excreted for more than 6 months. None of the cases developed paralysis during the study period. Chronic polioviruses excretion remains a rare event even among individuals with PID. Nevertheless, because these individuals were not paralyzed they would have been missed by current surveillance; therefore, surveillance for polioviruses among PID should be established. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  13. Notch-deficient skin induces a lethal systemic B-lymphoproliferative disorder by secreting TSLP, a sentinel for epidermal integrity.

    Directory of Open Access Journals (Sweden)

    Shadmehr Demehri

    2008-05-01

    Full Text Available Epidermal keratinocytes form a highly organized stratified epithelium and sustain a competent barrier function together with dermal and hematopoietic cells. The Notch signaling pathway is a critical regulator of epidermal integrity. Here, we show that keratinocyte-specific deletion of total Notch signaling triggered a severe systemic B-lymphoproliferative disorder, causing death. RBP-j is the DNA binding partner of Notch, but both RBP-j-dependent and independent Notch signaling were necessary for proper epidermal differentiation and lipid deposition. Loss of both pathways caused a persistent defect in skin differentiation/barrier formation. In response, high levels of thymic stromal lymphopoietin (TSLP were released into systemic circulation by Notch-deficient keratinocytes that failed to differentiate, starting in utero. Exposure to high TSLP levels during neonatal hematopoiesis resulted in drastic expansion of peripheral pre- and immature B-lymphocytes, causing B-lymphoproliferative disorder associated with major organ infiltration and subsequent death, a previously unappreciated systemic effect of TSLP. These observations demonstrate that local skin perturbations can drive a lethal systemic disease and have important implications for a wide range of humoral and autoimmune diseases with skin manifestations.

  14. Alpha-CaMKII deficiency causes immature dentate gyrus, a novel candidate endophenotype of psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Yamasaki Nobuyuki

    2008-09-01

    Full Text Available Abstract Elucidating the neural and genetic factors underlying psychiatric illness is hampered by current methods of clinical diagnosis. The identification and investigation of clinical endophenotypes may be one solution, but represents a considerable challenge in human subjects. Here we report that mice heterozygous for a null mutation of the alpha-isoform of calcium/calmodulin-dependent protein kinase II (alpha-CaMKII+/- have profoundly dysregulated behaviours and impaired neuronal development in the dentate gyrus (DG. The behavioral abnormalities include a severe working memory deficit and an exaggerated infradian rhythm, which are similar to symptoms seen in schizophrenia, bipolar mood disorder and other psychiatric disorders. Transcriptome analysis of the hippocampus of these mutants revealed that the expression levels of more than 2000 genes were significantly changed. Strikingly, among the 20 most downregulated genes, 5 had highly selective expression in the DG. Whereas BrdU incorporated cells in the mutant mouse DG was increased by more than 50 percent, the number of mature neurons in the DG was dramatically decreased. Morphological and physiological features of the DG neurons in the mutants were strikingly similar to those of immature DG neurons in normal rodents. Moreover, c-Fos expression in the DG after electric footshock was almost completely and selectively abolished in the mutants. Statistical clustering of human post-mortem brains using 10 genes differentially-expressed in the mutant mice were used to classify individuals into two clusters, one of which contained 16 of 18 schizophrenic patients. Nearly half of the differentially-expressed probes in the schizophrenia-enriched cluster encoded genes that are involved in neurogenesis or in neuronal migration/maturation, including calbindin, a marker for mature DG neurons. Based on these results, we propose that an "immature DG" in adulthood might induce alterations in behavior and

  15. Membrane omega-3 Fatty Acid deficiency as a preventable risk factor for comorbid coronary heart disease in major depressive disorder.

    Science.gov (United States)

    McNamara, Robert K

    2009-01-01

    Major depression disorder (MDD) significantly increases the risk for coronary heart disease (CHD) which is a leading cause of mortality in patients with MDD. Moreover, depression is frequently observed in a subset of patients following acute coronary syndrome (ACS) and increases risk for mortality. Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. This hypothesis is supported by cross-national and cross-sectional epidemiological surveys finding an inverse correlation between n-3 fatty acid status and prevalence rates of both CHD and MDD, prospective studies finding that lower dietary or membrane EPA+DHA levels increase risk for both MDD and CHD, case-control studies finding that the n-3 fatty acid status of MDD patients places them at high risk for emergent CHD morbidity and mortality, meta-analyses of controlled n-3 fatty acid intervention studies finding significant advantage over placebo for reducing depression symptom severity in MDD patients, and for secondary prevention of cardiac events in CHD patients, findings that n-3 fatty acid status is inversely correlated with other documented CHD risk factors, and patients diagnosed with MDD after ACS exhibit significantly lower n-3 fatty acid status compared with nondepressed ACS patients. This body of evidence provides strong support for future studies to evaluate the effects of increasing dietary n-3 fatty acid status on CHD comorbidity and mortality in MDD patients.

  16. Elevated PYY is associated with energy deficiency and indices of subclinical disordered eating in exercising women with hypothalamic amenorrhea.

    Science.gov (United States)

    Scheid, Jennifer L; Williams, Nancy I; West, Sarah L; VanHeest, Jaci L; De Souza, Mary Jane

    2009-02-01

    The purpose of this study was twofold: (1) to determine if gastrointestinal hormones, associated with energy intake and energy balance, are altered in exercising women with hypothalamic amenorrhea and (2) to assess the association between gastrointestinal hormones and behavioural indicators of subclinical disordered eating in exercising women with hypothalamic amenorrhea. This cross-sectional study analyzed serum ghrelin, peptide YY (PYY), glucagon-like peptide-1 (GLP-1), menstrual status (by E1G and PdG), resting energy expenditure (REE), and subclinical eating behaviours in sedentary ovulatory (SedOv), exercising ovulatory (ExOv), and exercising amenorrheic (ExAmen) women. Groups were similar with respect to age (23.8+/-0.6 years) and BMI (21.4+/-0.3 kg/m(2)). The ratio of REE to predicted REE (REE:predicted REE) was 0.94+/-0.02, 0.94+/-0.02, and 0.88+/-0.02 in the SedOv, ExOv, and ExAmen groups, respectively. The REE:predicted REE in the ExAmen group was consistent with an energy deficiency. LogPYY, ghrelin, dietary cognitive restraint, and drive for thinness were elevated in the ExAmen group compared to other groups. GLP-1 concentrations were similar among groups. LogPYY correlated with drive for thinness and REE/FFM. In conclusion, fasting PYY and ghrelin concentrations are elevated in exercising women with FHA and both gastrointestinal peptides may serve as a proxy indicator of energy deficiency in this population.

  17. Common variants in the G protein beta3 subunit gene and thyroid disorders in a formerly iodine-deficient population.

    Science.gov (United States)

    Völzke, Henry; Bornhorst, Alexa; Rimmbach, Christian; Petersenn, Holger; Geissler, Ingrid; Nauck, Matthias; Wallaschofski, Henri; Kroemer, Heyo K; Rosskopf, Dieter

    2009-10-01

    Heterotrimeric G proteins are key mediators of signals from membrane receptors-including the thyroid-stimulating hormone (TSH) receptor-to cellular effectors. Gain-of-function mutations in the TSH receptor and the Galpha(S) subunit occur frequently in hyperfunctioning thyroid nodules and differentiated thyroid carcinomas, whereby the T allele of a common polymorphism (825C>T, rs5443) in the G protein beta3 subunit gene (GNB3) is associated with increased G protein-mediated signal transduction and a complex phenotype. The aim of this study was to investigate whether this common polymorphism affects key parameters of thyroid function and morphology and influences the pathogenesis of thyroid diseases in the general population. The population-based cross-sectional Study of Health in Pomerania is a general health survey with focus on thyroid diseases in northeast Germany, a formerly iodine-deficient area. Data from 3428 subjects (1800 men and 1628 women) were analyzed for an association of the GNB3 genotype with TSH, free triiodothyronine and thyroxine levels, urine iodine and thiocyanate excretion, and thyroid ultrasound morphology including thyroid volume, presence of goiter, and thyroid nodules. There was no association between GNB3 genotype status and the functional or morphological thyroid parameters investigated, neither in crude analyses nor upon multivariable analyses including known confounders of thyroid disorders. Based on the data from this large population-based survey, we conclude that the GNB3 825C>T polymorphism does not affect key parameters of thyroid function and morphology in the general population of a formerly iodine-deficient area.

  18. From Research to Policy to Programme: Success Story of Seven State Iodine Deficiency Disorders (IDD Survey in India

    Directory of Open Access Journals (Sweden)

    Chandrakant S Pandav

    2015-12-01

    Full Text Available Iodine Deficiency Disorders (IDD constitute the single largest cause of preventable brain damage worldwide. In India the entire population is prone to IDD due to deficiency of iodine in the soil of the subcontinent and consequently the food derived from it. Of these, an estimated 350 million people are at higher risk of IDDs as they consume salt with inadequate iodine. Every year nine million pregnant women and eight million newborns are at risk of IDD in India.On September 13, 2000, the Government of India lifted the ban at the national level on the sale of non-iodized salt (India Gazette 2000. Scientists, civil society, international agencies and other stakeholders joined ranks to fight against this retrograde step by the government of India. The four pronged approach to fight the removal of ban on non- iodized salt comprised of writing advocacy documents, meeting with stakeholders, media campaign and tracking of Universal Salt Iodization (USI in states by state iodine status surveys.But effective advocacy and media campaign were hampered by lack of scientific data substantiating the magnitude of Iodine Deficiency disorders (IDD in India. To address this lacuna, state level Iodine status surveys were planned in seven states of India and were executed over next five years in collaboration with various national and international stakeholders.State level IDD surveys were carried out in seven states (Kerala, Tamil Nadu, Orissa, Rajasthan, Bihar, Goa and Jharkhand from 2000 to 2006 by International Council for Control of Iodine Deficiency Disorders (ICCIDD in collaboration with state medical colleges, Micronutrient Initiative (MI and UNICEF. The surveys were carried as per the recommended guidelines of WHO/UNICEF/ICCIDD and used 30 cluster into 40 children sampling methodology. Children in the age group of 6-12 years, women in the household, retail shop keepers and other community stakeholders constituted the study population. All three indicators

  19. Genetics Home Reference: corticosterone methyloxidase deficiency

    Science.gov (United States)

    ... hyperreninemic hypoaldosteronism steroid 18-hydroxylase deficiency steroid 18-oxidase deficiency Visser-Cost syndrome ... Potassium Test Health Topic: Adrenal Gland Disorders Health Topic: Fluid ...

  20. Orbital and spin effects for the upper critical field in As-deficient disordered Fe pnictide superconductors

    International Nuclear Information System (INIS)

    Fuchs, G; Drechsler, S-L; Kozlova, N; Hamann-Borrero, J E; Behr, G; Nenkov, K; Freudenberger, J; Koehler, A; Knupfer, M; Buechner, B; Schultz, L; Bartkowiak, M; Klauss, H-H; Maeter, H; Kwadrin, A; Amato, A; Luetkens, H; Khasanov, R; Arushanov, E; Rosner, H

    2009-01-01

    We report upper critical field B c2 (T) data for LaO 0.9 F 0.1 FeAs 1-δ in a wide temperature and field range up to 60 T. The large slope of B c2 ∼- 5.4 to -6.6 T K -1 near an improved T c ∼28.5 K of the in-plane B c2 (T) contrasts with a flattening starting near 23 K above 30 T we regard as the onset of Pauli-limited behaviour (PLB) with B c2 (0)∼63-68 T. We interpret a similar hitherto unexplained flattening of the B c2 (T) curves reported for at least three other disordered closely related systems, Co-doped BaFe 2 As 2 , (Ba,K) Fe 2 As 2 and NdO 0.7 F 0.3 FeAs (all single crystals), for applied fields H parallel (a,b), also as a manifestation of PLB. Their Maki parameters have been estimated by analysing their B c2 (T) data within the Werthamer-Helfand-Hohenberg approach. The pronounced PLB of (Ba, K)Fe 2 As 2 single crystals obtained from an Sn flux is attributed also to a significant As deficiency detected by wavelength dispersive x-ray spectroscopy as reported by Ni et al (2008 Phys. Rev. B 78 014507). Consequences of our results are discussed in terms of disorder effects within conventional superconductivity (CSC) and unconventional superconductivity (USC). USC scenarios with nodes on individual Fermi surface sheets (FSS), e.g. p- and d-wave SC, can be discarded for our samples. The increase of dB c2 /dT| T c by sizeable disorder provides evidence for an important intraband (intra-FSS) contribution to the orbital upper critical field. We suggest that it can be ascribed either to an impurity-driven transition from s ± USC to CSC of an extended s ++ -wave state or to a stabilized s ± -state provided As-vacancies cause predominantly strong intraband scattering in the unitary limit. We compare our results with B c2 data from the literature, which often show no PLB for fields below 60-70 T probed so far. A novel disorder-related scenario of a complex interplay of SC with two different competing magnetic instabilities is suggested.

  1. Chapter 30: historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins.

    Science.gov (United States)

    Lanska, Douglas J

    2010-01-01

    This historical review addresses major neurological disorders associated with deficiencies of water-soluble B vitamins: beriberi, Wernicke-Korsakoff syndrome, pellagra, neural tube defects, and subacute combined degeneration of the spinal cord. Beriberi: Beriberi was known for millennia in Asia, but was not described by a European until the 17th century when Brontius in the Dutch East Indies reported the progressive sensorimotor polyneuropathy. The prevalence of beriberi increased greatly in Asia with a change in the milling process for rice in the late 19th century. In the 1880s, Takaki demonstrated the benefits of dietary modification in sailors, and later instituted dietary reforms in the Japanese Navy, which largely eradicated beriberi from the Japanese Navy by 1887. In 1889 Eijkman in Java serendipitously identified dietary factors as a major contributor to "chicken polyneuritis," which he took to be an animal model for beriberi; the polyneuritis could be cured or prevented by feeding the chickens either unpolished rice or rice polishings. By 1901, Grijns, while continuing studies of beriberi in Java, suggested a dietary deficiency explanation for beriberi after systematically eliminating deficiencies of known dietary components and excluding a toxic effect. Wernicke-Korsakoff syndrome: In the late 1870s, Wernicke identified a clinicopathological condition with ophthalmoparesis, nystagmus, ataxia, and encephalopathy, associated with punctate hemorrhages symmetrically arranged in the grey matter around the third and fourth ventricles and the aqueduct of Sylvius. In the late 1880s, Korsakoff described a spectrum of cognitive disorders, including a confabulatory amnestic state following an agitated delirium, occurring in conjunction with peripheral polyneuropathy. Beginning around 1900, investigators recognized the close relationship between Korsakoff's psychosis, delirium tremens, and Wernicke's encephalopathy, but not until several decades later were Wernicke

  2. Brain monoamine oxidase B and A in human parkinsonian dopamine deficiency disorders.

    Science.gov (United States)

    Tong, Junchao; Rathitharan, Gausiha; Meyer, Jeffrey H; Furukawa, Yoshiaki; Ang, Lee-Cyn; Boileau, Isabelle; Guttman, Mark; Hornykiewicz, Oleh; Kish, Stephen J

    2017-09-01

    See Jellinger (doi:10.1093/awx190) for a scientific commentary on this article. The enzyme monoamine oxidases (B and A subtypes, encoded by MAOB and MAOA, respectively) are drug targets in the treatment of Parkinson's disease. Inhibitors of MAOB are used clinically in Parkinson's disease for symptomatic purposes whereas the potential disease-modifying effect of monoamine oxidase inhibitors is debated. As astroglial cells express high levels of MAOB, the enzyme has been proposed as a brain imaging marker of astrogliosis, a cellular process possibly involved in Parkinson's disease pathogenesis as elevation of MAOB in astrocytes might be harmful. Since brain monoamine oxidase status in Parkinson's disease is uncertain, our objective was to measure, by quantitative immunoblotting in autopsied brain homogenates, protein levels of both monoamine oxidases in three different degenerative parkinsonian disorders: Parkinson's disease (n = 11), multiple system atrophy (n = 11), and progressive supranuclear palsy (n = 16) and in matched controls (n = 16). We hypothesized that if MAOB is 'substantially' localized to astroglial cells, MAOB levels should be generally associated with standard astroglial protein measures (e.g. glial fibrillary acidic protein). MAOB levels were increased in degenerating putamen (+83%) and substantia nigra (+10%, non-significant) in multiple system atrophy; in caudate (+26%), putamen (+27%), frontal cortex (+31%) and substantia nigra (+23%) of progressive supranuclear palsy; and in frontal cortex (+33%), but not in substantia nigra of Parkinson's disease, a region we previously reported no increase in astrocyte protein markers. Although the magnitude of MAOB increase was less than those of standard astrocytic markers, significant positive correlations were observed amongst the astrocyte proteins and MAOB. Despite suggestions that MAOA (versus MAOB) is primarily responsible for metabolism of dopamine in dopamine neurons, there was no loss of the

  3. Genetic hemoglobin disorders rather than iron deficiency are a major predictor of hemoglobin concentration in women of reproductive age in rural prey Veng, Cambodia.

    Science.gov (United States)

    Karakochuk, Crystal D; Whitfield, Kyly C; Barr, Susan I; Lamers, Yvonne; Devlin, Angela M; Vercauteren, Suzanne M; Kroeun, Hou; Talukder, Aminuzzaman; McLean, Judy; Green, Timothy J

    2015-01-01

    Anemia is common in Cambodian women. Potential causes include micronutrient deficiencies, genetic hemoglobin disorders, inflammation, and disease. We aimed to investigate factors associated with anemia (low hemoglobin concentration) in rural Cambodian women (18-45 y) and to investigate the relations between hemoglobin disorders and other iron biomarkers. Blood samples were obtained from 450 women. A complete blood count was conducted, and serum and plasma were analyzed for ferritin, soluble transferrin receptor (sTfR), folate, vitamin B-12, retinol binding protein (RBP), C-reactive protein (CRP), and α1 acid glycoprotein (AGP). Hemoglobin electrophoresis and multiplex polymerase chain reaction were used to determine the prevalence and type of genetic hemoglobin disorders. Overall, 54% of women had a genetic hemoglobin disorder, which included 25 different genotypes (most commonly, hemoglobin E variants and α(3.7)-thalassemia). Of the 420 nonpregnant women, 29.5% had anemia (hemoglobin 8.3 mg/L), hemoglobin disorders, respectively. There was no biochemical evidence of vitamin A deficiency (RBP 5 mg/L) and 26% (AGP >1 g/L) of nonpregnant women, respectively. By using an adjusted linear regression model, the strongest predictors of hemoglobin concentration were hemoglobin E homozygous disorder and pregnancy status. Other predictors were 2 other heterozygous traits (hemoglobin E and Constant Spring), parity, RBP, log ferritin, and vitamin B-12. Multiple biomarkers for anemia and iron deficiency were significantly influenced by the presence of hemoglobin disorders, hence reducing their diagnostic sensitivity. Further investigation of the unexpectedly low prevalence of IDA in Cambodian women is warranted. © 2015 American Society for Nutrition.

  4. Qualitative and quantitative analysis of human nails to find correlation between nutrients and vitamin D deficiency using LIBS and ICP-AES.

    Science.gov (United States)

    Almessiere, M A; Altuwiriqi, R; Gondal, M A; AlDakheel, R K; Alotaibi, H F

    2018-08-01

    In this work, we analysed human fingernails of people who suffer from vitamin D deficiency using the laser-induced breakdown spectroscopy(LIBS) and inductively coupled plasma atomic emission spectroscopy (ICP-AES)techniques. The measurements have been conducted on 71 nail samples collected randomly from volunteers of different genders and ages ranged between 20 and 50 years. The main aim of this study is to find the correlation between vitamin D deficiency and the intensity of some dominated lines in the LIBS spectra. A LIBS spectrum consists of dominant lines of fifteen elements including calcium, magnesium, sodium, potassium, titanium, iron, chloride, sulphur, copper, chromium, zinc, nitrogen, phosphor, and oxygen. By recording the spectrum in specific ranges and focusing on calcium, magnesium, sodium, and potassium, we found a correlation between the intensity of the potassium (K) lines at (766.5 and 769.9 nm)and vitamin D level in both age groups (20 and 25 years old), with weak correlation for the calcium (Ca), magnesium (Mg), and sodium (Na) lines. To verify the validity of the LIBS results, we analysed the nail samples with ICP, a standard analytical technique. The elements detected with our LIBS technique are in a good agreement with those identified by ICP-AES. From the health and physiological perspectives, the LIBS system, which is used for spectral analysis in this work, is appropriate for diagnostic purposes such as to find the correlation between vitamin D deficiency and potassium content, especially for hypertensive patients who simultaneously take potassium-based medication and vitamin D supplement. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Effects of a high dose of microbial phytase and myo-inositol supplementation on growth performance, tibia mineralization, nutrient digestibility, litter moisture content, and foot problems in broiler chickens fed phosphorus-deficient diets.

    Science.gov (United States)

    Farhadi, D; Karimi, A; Sadeghi, Gh; Rostamzadeh, J; Bedford, M R

    2017-10-01

    A total of 660 one-day-old Ross 308 broiler chicks were randomly distributed into eleven dietary treatments. Treatments included a maize-soybean meal-based diet with recommended calcium (Ca) and non-phytate phosphorus (nPP) (positive control; PC), an nPP-deficient diet (negative control; NC), NC diets supplemented with different levels of phytase (0, 500, 1,000, 2,000, 3,000, 4,000, 5,000, and 6,000 FTU/kg), a NC diet plus 0.15% myo-inositol, and a NC diet with reduced Ca level (Ca to nPP ratio same as PC). Feeding the NC diet had no effects on birds' body weight (BW), weight gain (WG), feed intake (FI), and feed conversion ratio (FCR), but decreased (P Phytase supplementation at ≥4,000 FTU/kg improved (P phytase returned (P phytase in a dose-dependent manner, especially at ≥4,000 FTU/kg levels, was effective in overcoming the negative consequences of NC diets, primarily due to the ability to improve nutrient utilization. In addition, reducing the Ca level or supplementation of inositol of NC diet can correct some the negative effects of feeding a NC diet confirming the negative effect of a wide Ca: P ratio in a P-deficient diet and suggesting that inositol may play a role in the response to phytase addition. © 2017 Poultry Science Association Inc.

  6. Research within the coordinated programme on isotope-aided micro-nutrient studies in rice production with special reference to zinc deficiency

    International Nuclear Information System (INIS)

    Tahir, M.

    1981-03-01

    A series of pot and field experiments with flooded rice were carried out on contrasting soil types of the Punjab, Pakistan to study the zinc status of soils, evaluate chemical methods for extracting available zinc and copper in flooded rice soils, study the residual effects of zinc fertilizer, evaluate the efficiency of zinc application to rice. The results show a wide-spread deficiency of Zn and, to some extent, of Cu in rice plants; (2) the correlation coefficient values between soil-available Zn and Cu and that extracted by rice plants were very small; (3) the various sources of Zn applied to rice by different ways proved quite effective in alleviating Zn deficiency under pot and field experiments; (4) uptake of N, P, Cu in rice plants was variably affected with Zn applied; (5) the addition of P in any form alone and with Zn or Cu invariably depressed Zn uptake by rice plants; (6) both Zn and Cu concentrations in plants were depressed with manure applications alone, as well as when Zn or Cu was respectively applied with it; (7) Zn reduced Cu while Cu induced Zn concentration in plants

  7. Storage Pool Deficiencies

    Science.gov (United States)

    ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ...

  8. Genetics Home Reference: factor VII deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Factor VII deficiency Factor VII deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Factor VII deficiency is a rare bleeding disorder that varies ...

  9. Genetics Home Reference: tyrosine hydroxylase deficiency

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions TH deficiency Tyrosine hydroxylase deficiency Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Tyrosine hydroxylase (TH) deficiency is a disorder that primarily ...

  10. The Alcohol Use Disorders Identification Test and carbohydrate-deficient transferrin in alcohol-related sickness absence.

    Science.gov (United States)

    Hermansson, Ulric; Helander, Anders; Brandt, Lena; Huss, Anders; Rönnberg, Sten

    2002-01-01

    Previous studies have shown that elevated, risky levels of alcohol consumption may lead to higher rates of sickness absence. However, no studies have examined the Alcohol Use Disorders Identification Test (AUDIT) or serum carbohydrate-deficient transferrin (CDT) in relation to sickness absence in the workplace. The purpose of this study was to examine the relationship between sick-days, 12 months before screening, and the AUDIT and CDT (CDTect kit). Serum gamma-glutamyltransferase also was used for comparison. The study was carried out over 36 months in a large workplace and formed part of an ongoing controlled study. In conjunction with a routine health examination, employees were offered the opportunity to undergo an alcohol screening. Absence data were obtained from the company payroll system, and sickness absence was analyzed by using a three-ordinal level cumulative logistic model on the number of sick-days. Odds ratios (OR) and 95% confidence intervals (CI) are reported. Of the 989 subjects who participated in the study, 193 (19.5%) screened positive in relation to either the AUDIT (>or=8 points) or CDT (women), or both. Employees who screened positive with the AUDIT had a significantly higher proportion of sick-days (p = 0.047) compared with those who screened negative (OR = 1.4, CI 1.0-1.9). Neither long, continuous periods of sickness absence nor absence on Mondays or Fridays gave a clear indication of individuals who screened positive on the AUDIT or CDT test. Our data indicate that individuals with moderately elevated or risky levels of alcohol consumption show an increase in sick-days. Accordingly, workplaces have a good reason for using a more systematic approach to alcohol screening in routine workplace health examinations.

  11. Low Goiter Rate Associated with Small Average Thyroid Volume in Schoolchildren after the Elimination of Iodine Deficiency Disorders.

    Directory of Open Access Journals (Sweden)

    Peihua Wang

    Full Text Available After the implementation of the universal salt iodization (USI program in 1996, seven cross-sectional school-based surveys have been conducted to monitor iodine deficiency disorders (IDD among children in eastern China.This study aimed to examine the correlation of total goiter rate (TGR with average thyroid volume (Tvol and urinary iodine concentration (UIC in Jiangsu province after IDD elimination.Probability-proportional-to-size sampling was applied to select 1,200 children aged 8-10 years old in 30 clusters for each survey in 1995, 1997, 1999, 2001, 2002, 2005, 2009 and 2011. We measured Tvol using ultrasonography in 8,314 children and measured UIC (4,767 subjects and salt iodine (10,184 samples using methods recommended by the World Health Organization. Tvol was used to calculate TGR based on the reference criteria specified for sex and body surface area (BSA.TGR decreased from 55.2% in 1997 to 1.0% in 2009, and geometric means of Tvol decreased from 3.63 mL to 1.33 mL, along with the UIC increasing from 83 μg/L in 1995 to 407 μg/L in 1999, then decreasing to 243 μg/L in 2005, and then increasing to 345 μg/L in 2011. In the low goiter population (TGR 300 μg/L was associated with a smaller average Tvol in children.After IDD elimination in Jiangsu province in 2001, lower TGR was associated with smaller average Tvol. Average Tvol was more sensitive than TGR in detecting the fluctuation of UIC. A UIC of 300 μg/L may be defined as a critical value for population level iodine status monitoring.

  12. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

    Science.gov (United States)

    Steinhagen-Thiessen, Elisabeth; Stroes, Erik; Soran, Handrean; Johnson, Colin; Moulin, Philippe; Iotti, Giorgio; Zibellini, Marco; Ossenkoppele, Bas; Dippel, Michaela; Averna, Maurizio R

    2017-07-01

    A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. Copyright © 2016. Published by Elsevier B.V.

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Science Science Home Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision ... prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the ...

  14. Quadruple burden of HIV/AIDS, tuberculosis, chronic intestinal parasitoses, and multiple micronutrient deficiency in ethiopia: a summary of available findings.

    Science.gov (United States)

    Amare, Bemnet; Moges, Beyene; Mulu, Andargachew; Yifru, Sisay; Kassu, Afework

    2015-01-01

    Human immunodeficiency virus (HIV), tuberculosis (TB), and helminthic infections are among the commonest public health problems in the sub-Saharan African countries like Ethiopia. Multiple micronutrient deficiencies also known as the "hidden hunger" are common in people living in these countries either playing a role in their pathogenesis or as consequences. This results in a vicious cycle of multiple micronutrient deficiencies and infection/disease progression. As infection is profoundly associated with nutritional status resulting from decreased nutrient intake, decreased nutrient absorption, and nutrient losses, micronutrient deficiencies affect immune system and impact infection and diseases progression. As a result, micronutrients, immunity, and infection are interrelated. The goal of this review is therefore to provide a summary of available findings regarding the "quadruple burden trouble" of HIV, TB, intestinal parasitic infections, and multiple micronutrient deficiencies to describe immune-modulating effects related to disorders.

  15. Nutrient deficiency and obstetrical outcomes in pregnant women following Roux-en-Y gastric bypass: A retrospective Danish cohort study with a matched comparison group.

    Science.gov (United States)

    Hammeken, Lianna Hede; Betsagoo, Ramsina; Jensen, Ann Nygaard; Sørensen, Anne Nødgaard; Overgaard, Charlotte

    2017-09-01

    Roux-en-Y gastric bypass surgery and small-for-gestational-age births are known to be associated although the etiology is not fully understood. This study aimed to investigate pregnancy outcomes and maternal nutritional status among pregnant women with a history of Roux-en-Y gastric bypass using maternal anemia and gestational weight gain as indicators of micronutrient and macronutrient deficiency in pregnancy. The study was designed as a retrospective matched cohort study. All Roux-en-Y-gastric-bypass-operated pregnant women (n=151) who were followed in the outpatient obstetric clinic at Aalborg University Hospital in Denmark and gave birth between 1 January 2010 and 31 December 2013 were included. Each Roux-en-Y-gastric-bypass-operated woman was closely matched with a non-Roux-en-Y-gastric-bypass-operated woman. Primary outcomes were small-for-gestational-age birth, maternal anemia and gestational weight gain. The two groups (matched 1:1) were compared by paired tests on all measures, conditional logistic regression for paired binary data and the paired t-test or Wilcoxon signed-rank test for paired continuous data. The risk of small-for-gestational-age birth (odds ratio (OR)=2.67, 95% confidence interval (CI); 1.04-6.82) and maternal anemia (OR=3.0, 95% CI; 1.09-8.25) were significantly increased for the Roux-en-Y gastric bypass group compared to the non-Roux-en-Y gastric bypass group. No significant difference was found in gestational weight gain (p=0.169) between women with a history of Roux-en-Y gastric bypass (11.51kg±8.97 standard deviation (SD)) and non- Roux-en-Y-gastric-bypass-operated women (12.18kg±6.28 SD). A history of Roux-en-Y gastric bypass surgery increases the risk of small-for-gestational-age birth and anemia, while a finding of differences in gestational weight gain is uncorroborated. Our findings suggest a role of micronutrient deficiency rather than reduced gestational weight gain in the etiology of small-for-gestational-age birth among

  16. The goitre rate, its association with reproductive failure, and the knowledge of iodine deficiency disorders (IDD among women in Ethiopia: Cross-section community based study

    Directory of Open Access Journals (Sweden)

    Berhane Yemane

    2007-11-01

    Full Text Available Abstract Background Iodine deficiency is severe public health problem in Ethiopia. Although urinary iodine excretion level (UIE is a better indicator for IDD the goitre rate is commonly used to mark the public health significance. The range of ill effect of IDD is however beyond goitre in Ethiopia. In this study the prevalence of goitre and its association with reproductive failure, and the knowledge of women on Iodine Deficiency were investigated. Methods A cross-section community based study was conducted during February to May 2005 in 10998 women in child bearing age of 15 to 49 years. To assess the state of iodine deficiency in Ethiopia, a multistage "Proportional to Population Size" (PPS sampling methods was used, and WHO/UNICEF/ICCIDD recommended method for goitre classification. Results Total goitre prevalence (weighted was 35.8% (95% CI 34.5–37.1, 24.3% palpable and 11.5% visible goitre. This demonstrates that more than 6 million women were affected by goitre. Goitre prevalence in four regional states namely Southern Nation Nationalities and People (SNNP, Oromia, Bebshandul-Gumuz and Tigray was greater than 30%, an indication of severe iodine deficiency. In the rest of the regions except Gambella, the IDD situation was mild to moderate. According to WHO/UNICEF/ICCIDD this is a lucid indication that IDD is a major public health problem in Ethiopia. Women with goitre experience more pregnancy failure (X2 = 16.5, p 2 = 67.52; p Conclusion Ethiopia is at risk of iodine deficiency disorders. The findings presented in this report emphasis on a sustainable iodine intervention program targeted at population particularly reproductive age women. Nutrition education along with Universal Salt Iodization program and iodized oil capsule distribution in some peripheries where iodine deficiency is severe is urgently required.

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... exploring about iron-deficiency anemia. Read more New treatments for disorders that lead to iron-deficiency anemia. We are ... and other pathways. This could help develop new therapies for conditions that ... behavior, thinking, and mood during adolescence. Treating anemia in ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... A-Z Clinical Trials Publications and Resources Health Education and Awareness The Science Science Home Blood Disorders ... infancy has lasting effects. We are interested in learning how having iron-deficiency anemia early in life ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, ... iron-deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this ...

  20. Intracranial Hemorrhage: A Devastating Outcome of Congenital Bleeding Disorders-Prevalence, Diagnosis, and Management, with a Special Focus on Congenital Factor XIII Deficiency.

    Science.gov (United States)

    Alavi, Seyed Ezatolla Rafiee; Jalalvand, Masumeh; Assadollahi, Vahideh; Tabibian, Shadi; Dorgalaleh, Akbar

    2018-04-01

    Intracranial hemorrhage (ICH) is a medical emergency. In congenital bleeding disorders, ICH is a devastating presentation accompanied with a high rate of morbidity and mortality. The prevalence of ICH is highly variable among congenital bleeding disorders, with the highest incidence observed in factor (F) XIII deficiency (FXIIID) (∼30%). This life-threatening presentation is less common in afibrinogenemia, FVIII, FIX, FVII, and FX deficiencies, and is rare in severe FV and FII deficiencies, type 3 von Willebrand disease and inherited platelet function disorders (IPFDs). In FXIIID, this diathesis most often occurs after trauma in children, whereas spontaneous ICH is more frequent in adults. About 15% of patients with FXIIID and ICH die; the bleeding causes 80% of deaths in this coagulopathy. Although in FXIIID, the bleed most commonly is intraparenchymal (> 90%), epidural, subdural, and subarachnoid hemorrhages also have been reported, albeit rarely. As this life-threatening bleeding causes neurological complications, early diagnosis can prevent further expansion of the hematoma and secondary damage. Neuroimaging plays a crucial role in the diagnosis of ICH, but signs and symptoms in patients with severe FXIIID should trigger replacement therapy even before establishment of the diagnosis. Although a high dose of FXIII concentrate can reduce the rate of morbidity and mortality of ICH in FXIIID, it may occasionally trigger inhibitor development, thus complicating ICH management and future prophylaxis. Nevertheless, replacement therapy is the mainstay of treatment for ICH in FXIIID. Neurosurgery is performed in patients with FXIIID and epidural hematoma and a hemorrhage diameter exceeding 2 cm or a volume of ICH is more than 30 cm 3 . Contact sports are not recommended in people with FXIIID as they can elicit ICH. However, a considerable number of safe sports and activities have been suggested to have more benefits than dangers for patients with congenital bleeding

  1. 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

    Science.gov (United States)

    Grimbly, Chelsey; Caluseriu, Oana; Metcalfe, Peter; Jetha, Mary M; Rosolowsky, Elizabeth T

    2016-01-01

    17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis. We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.

  2. Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders.

    Science.gov (United States)

    Schaevitz, Laura R; Picker, Jonathan D; Rana, Jasmine; Kolodny, Nancy H; Shane, Barry; Berger-Sweeney, Joanne E; Coyle, Joseph T

    2012-06-01

    Interactions between genetic and environmental risk factors underlie a number of neuropsychiatric disorders, including schizophrenia (SZ) and autism (AD). Due to the complexity and multitude of the genetic and environmental factors attributed to these disorders, recent research strategies focus on elucidating the common molecular pathways through which these multiple risk factors may function. In this study, we examine the combined effects of a haplo-insufficiency of glutamate carboxypeptidase II (GCPII) and dietary folic acid deficiency. In addition to serving as a neuropeptidase, GCPII catalyzes the absorption of folate. GCPII and folate depletion interact within the one-carbon metabolic pathway and/or of modulate the glutamatergic system. Four groups of mice were tested: wild-type, GCPII hypomorphs, and wild-types and GCPII hypomorphs both fed a folate deficient diet. Due to sex differences in the prevalence of SZ and AD, both male and female mice were assessed on a number of behavioral tasks including locomotor activity, rotorod, social interaction, prepulse inhibition, and spatial memory. Wild-type mice of both sexes fed a folic acid deficient diet showed motor coordination impairments and cognitive deficits, while social interactions were decreased only in males. GCPII mutant mice of both sexes also exhibited reduced social propensities. In contrast, all folate-depleted GCPII hypomorphs performed similarly to untreated wild-type mice, suggesting that reduced GCPII expression and folate deficiency are mutually protective. Analyses of folate and neurometabolite levels associated with glutamatergic function suggest several potential mechanisms through which GCPII and folate may be interacting to create this protective effect. Copyright © 2011 Wiley Periodicals, Inc.

  3. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

    Directory of Open Access Journals (Sweden)

    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  4. Nutrient Status Assessment in Individuals and Populations for Healthy Aging-Statement from an Expert Workshop

    NARCIS (Netherlands)

    Peter, Szabolcs; Saris, Wim H. M.; Mathers, John C.; Feskens, Edith; Schols, Annemie; Navis, Gerjan; Kuipers, Folkert; Weber, Peter; Eggersdorfer, Manfred

    2015-01-01

    A workshop organized by the University Medical Center Groningen addressed various current issues regarding nutrient status of individuals and populations, tools and strategies for its assessment, and opportunities to intervene. The importance of nutrient deficiencies and information on nutrient

  5. High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.

    Science.gov (United States)

    Auray-Blais, Christiane; Maranda, Bruno; Lavoie, Pamela

    2014-09-25

    Creatine synthesis and transport disorders, Triple H syndrome and ornithine transcarbamylase deficiency are treatable inborn errors of metabolism. Early screening of patients was found to be beneficial. Mass spectrometry analysis of specific urinary biomarkers might lead to early detection and treatment in the neonatal period. We developed a high-throughput mass spectrometry methodology applicable to newborn screening using dried urine on filter paper for these aforementioned diseases. A high-throughput methodology was devised for the simultaneous analysis of creatine, guanidineacetic acid, orotic acid, uracil, creatinine and respective internal standards, using both positive and negative electrospray ionization modes, depending on the compound. The precision and accuracy varied by screening for inherited disorders by biochemical laboratories. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Infant motor development in rural Vietnam and intrauterine exposures to anaemia, iron deficiency and common mental disorders: a prospective community-based study.

    Science.gov (United States)

    Tran, Thach D; Tran, Tuan; Simpson, Julie A; Tran, Ha T; Nguyen, Trang T; Hanieh, Sarah; Dwyer, Terence; Biggs, Beverley-Ann; Fisher, Jane

    2014-01-08

    Antenatal anaemia, iron deficiency and common mental disorders (CMD) are prevalent in low- and middle-income countries. The aim of this study was to examine the direct and indirect effects of antenatal exposures to these risks and infant motor development. A cohort of women who were pregnant with a single foetus and between 12 and 20 weeks pregnant in 50 randomly-selected rural communes in Ha Nam province was recruited. Participants provided data twice during pregnancy (early and late gestation) and twice after giving birth (8 weeks and 6 months postpartum). The Edinburgh Postnatal Depression Scale was used at all four data collection waves to detect CMD (score ≥ 4). Maternal anaemia (Hb anaemia was 21.5% in early pregnancy and 24.4% in late pregnancy. There was 4.1% iron deficiency at early pregnancy and 48.2% at late pregnancy. Clinically significant symptoms of CMD were apparent among 40% women in early pregnancy and 28% in late pregnancy. There were direct adverse effects on infant BSID-M scores at 6 months of age due to antenatal anaemia in late pregnancy (an estimated mean reduction of 2.61 points, 95% Confidence Interval, CI, 0.57 to 4.65) and CMD in early pregnancy (7.13 points, 95% CI 3.13 to 11.13). Iron deficiency and anaemia in early pregnancy were indirectly related to the outcome via anaemia during late pregnancy. Antenatal anaemia, iron deficiency, and CMD have a negative impact on subsequent infant motor development. These findings highlight the need to improve the quality of antenatal care when developing interventions for pregnant women that aim to optimise early childhood development in low- and middle-income countries.

  7. Nutritional therapies for mental disorders

    Directory of Open Access Journals (Sweden)

    Vieira Karen F

    2008-01-01

    Full Text Available Abstract According to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable to the manner in which individual healthcare providers diagnose mental disorders, this noticeable distribution can be also explained by studies which show that a lack of certain dietary nutrients contribute to the development of mental disorders. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population in America and other developed countries; and are exceptionally deficient in patients suffering from mental disorders. Studies have shown that daily supplements of vital nutrients often effectively reduce patients' symptoms. Supplements that contain amino acids also reduce symptoms, because they are converted to neurotransmitters that alleviate depression and other mental disorders. Based on emerging scientific evidence, this form of nutritional supplement treatment may be appropriate for controlling major depression, bipolar disorder, schizophrenia and anxiety disorders, eating disorders, attention deficit disorder/attention deficit hyperactivity disorder (ADD/ADHD, addiction, and autism. The aim of this manuscript is to emphasize which dietary supplements can aid the treatment of the four most common mental disorders currently affecting America and other developed countries: major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD. Most antidepressants and other prescription drugs cause severe side effects, which usually discourage patients from taking their medications. Such

  8. Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials

    Directory of Open Access Journals (Sweden)

    Giovanni Pagano

    2014-11-01

    Full Text Available An extensive number of pathologies are associated with mitochondrial dysfunction (MDF and oxidative stress (OS. Thus, mitochondrial cofactors termed “mitochondrial nutrients” (MN, such as α-lipoic acid (ALA, Coenzyme Q10 (CoQ10, and l-carnitine (CARN (or its derivatives have been tested in a number of clinical trials, and this review is focused on the use of MN-based clinical trials. The papers reporting on MN-based clinical trials were retrieved in MedLine up to July 2014, and evaluated for the following endpoints: (a treated diseases; (b dosages, number of enrolled patients and duration of treatment; (c trial success for each MN or MN combinations as reported by authors. The reports satisfying the above endpoints included total numbers of trials and frequencies of randomized, controlled studies, i.e., 81 trials testing ALA, 107 reports testing CoQ10, and 74 reports testing CARN, while only 7 reports were retrieved testing double MN associations, while no report was found testing a triple MN combination. A total of 28 reports tested MN associations with “classical” antioxidants, such as antioxidant nutrients or drugs. Combinations of MN showed better outcomes than individual MN, suggesting forthcoming clinical studies. The criteria in study design and monitoring MN-based clinical trials are discussed.

  9. Dietary sodium restriction in the prophylaxis of hypertensive disorders of pregnancy: effects on the intake of other nutrients.

    Science.gov (United States)

    van Buul, B J; Steegers, E A; Jongsma, H W; Rijpkema, A L; Eskes, T K; Thomas, C M; Baadenhuysen, H; Hein, P R

    1995-07-01

    Dietary sodium restriction is used in the Netherlands in the prophylaxis of preeclampsia. To study the effects of long-term sodium restriction on the intake of other nutrients and the outcome of pregnancy, 68 healthy nulliparous pregnant women were randomly assigned to either a low-sodium diet (20 mmol/24 h) or an unrestricted diet. The diet was consumed between week 14 of gestation and delivery. The dietary intakes of energy, fat, protein, carbohydrate, sodium, potassium, and calcium were estimated with the dietary-history technique. A low-sodium diet reduced the intake of protein (by approximately 15 g/24 h), fat (by 20 g/24 h), and calcium (by 350 mg/24 h) and tended to decrease the energy intake (by approximately 0.7 MJ/24 h). The intakes of carbohydrate and potassium did not differ between the groups. The maternal weight gain was less in the low-sodium group (6.0 +/- 3.7 compared with 11.7 +/- 4.7 kg). Mean birth weight was not significantly different (3.2 +/- 0.5 compared with 3.4 +/- 0.5 kg).

  10. Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials

    Science.gov (United States)

    Pagano, Giovanni; Aiello Talamanca, Annarita; Castello, Giuseppe; Cordero, Mario D.; d’Ischia, Marco; Gadaleta, Maria Nicola; Pallardó, Federico V.; Petrović, Sandra; Tiano, Luca; Zatterale, Adriana

    2014-01-01

    An extensive number of pathologies are associated with mitochondrial dysfunction (MDF) and oxidative stress (OS). Thus, mitochondrial cofactors termed “mitochondrial nutrients” (MN), such as α-lipoic acid (ALA), Coenzyme Q10 (CoQ10), and l-carnitine (CARN) (or its derivatives) have been tested in a number of clinical trials, and this review is focused on the use of MN-based clinical trials. The papers reporting on MN-based clinical trials were retrieved in MedLine up to July 2014, and evaluated for the following endpoints: (a) treated diseases; (b) dosages, number of enrolled patients and duration of treatment; (c) trial success for each MN or MN combinations as reported by authors. The reports satisfying the above endpoints included total numbers of trials and frequencies of randomized, controlled studies, i.e., 81 trials testing ALA, 107 reports testing CoQ10, and 74 reports testing CARN, while only 7 reports were retrieved testing double MN associations, while no report was found testing a triple MN combination. A total of 28 reports tested MN associations with “classical” antioxidants, such as antioxidant nutrients or drugs. Combinations of MN showed better outcomes than individual MN, suggesting forthcoming clinical studies. The criteria in study design and monitoring MN-based clinical trials are discussed. PMID:25380523

  11. Acetic acid treatment in S. cerevisiae creates significant energy deficiency and nutrient starvation that is dependent on the activity of the mitochondrial transcriptional complex Hap2-3-4-5

    International Nuclear Information System (INIS)

    Kitanovic, Ana; Bonowski, Felix; Heigwer, Florian; Ruoff, Peter; Kitanovic, Igor; Ungewiss, Christin; Wölfl, Stefan

    2012-01-01

    Metabolic pathways play an indispensable role in supplying cellular systems with energy and molecular building blocks for growth, maintenance and repair and are tightly linked with lifespan and systems stability of cells. For optimal growth and survival cells rapidly adopt to environmental changes. Accumulation of acetic acid in stationary phase budding yeast cultures is considered to be a primary mechanism of chronological aging and induction of apoptosis in yeast, which has prompted us to investigate the dependence of acetic acid toxicity on extracellular conditions in a systematic manner. Using an automated computer controlled assay system, we investigated and model the dynamic interconnection of biomass yield- and growth rate-dependence on extracellular glucose concentration, pH conditions and acetic acid concentration. Our results show that toxic concentrations of acetic acid inhibit glucose consumption and reduce ethanol production. In absence of carbohydrates uptake, cells initiate synthesis of storage carbohydrates, trehalose and glycogen, and upregulate gluconeogenesis. Accumulation of trehalose and glycogen, and induction of gluconeogenesis depends on mitochondrial activity, investigated by depletion of the Hap2-3-4-5 complex. Analyzing the activity of glycolytic enzymes, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), pyruvate kinase (PYK), and glucose-6-phosphate dehydrogenase (G6PDH) we found that while high acetic acid concentration increased their activity, lower acetic acids concentrations significantly inhibited these enzymes. With this study we determined growth and functional adjustment of metabolism to acetic acid accumulation in a complex range of extracellular conditions. Our results show that substantial acidification of the intracellular environment, resulting from accumulation of dissociated acetic acid in the cytosol, is required for acetic acid toxicity, which creates a state of energy deficiency and nutrient starvation.

  12. Acetic acid treatment in S. cerevisiae creates significant energy deficiency and nutrient starvation that is dependent on the activity of the mitochondrial transcriptional complex Hap2-3-4-5

    Energy Technology Data Exchange (ETDEWEB)

    Kitanovic, Ana; Bonowski, Felix; Heigwer, Florian [Institute for Pharmacy and Molecular Biotechnology, Heidelberg University, Heidelberg (Germany); Ruoff, Peter [Faculty of Science and Technology, Centre for Organelle Research, University of Stavanger, Stavanger (Norway); Kitanovic, Igor; Ungewiss, Christin; Wölfl, Stefan, E-mail: wolfl@uni-hd.de [Institute for Pharmacy and Molecular Biotechnology, Heidelberg University, Heidelberg (Germany)

    2012-09-21

    Metabolic pathways play an indispensable role in supplying cellular systems with energy and molecular building blocks for growth, maintenance and repair and are tightly linked with lifespan and systems stability of cells. For optimal growth and survival cells rapidly adopt to environmental changes. Accumulation of acetic acid in stationary phase budding yeast cultures is considered to be a primary mechanism of chronological aging and induction of apoptosis in yeast, which has prompted us to investigate the dependence of acetic acid toxicity on extracellular conditions in a systematic manner. Using an automated computer controlled assay system, we investigated and model the dynamic interconnection of biomass yield- and growth rate-dependence on extracellular glucose concentration, pH conditions and acetic acid concentration. Our results show that toxic concentrations of acetic acid inhibit glucose consumption and reduce ethanol production. In absence of carbohydrates uptake, cells initiate synthesis of storage carbohydrates, trehalose and glycogen, and upregulate gluconeogenesis. Accumulation of trehalose and glycogen, and induction of gluconeogenesis depends on mitochondrial activity, investigated by depletion of the Hap2-3-4-5 complex. Analyzing the activity of glycolytic enzymes, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), pyruvate kinase (PYK), and glucose-6-phosphate dehydrogenase (G6PDH) we found that while high acetic acid concentration increased their activity, lower acetic acids concentrations significantly inhibited these enzymes. With this study we determined growth and functional adjustment of metabolism to acetic acid accumulation in a complex range of extracellular conditions. Our results show that substantial acidification of the intracellular environment, resulting from accumulation of dissociated acetic acid in the cytosol, is required for acetic acid toxicity, which creates a state of energy deficiency and nutrient starvation.

  13. Iodine Deficiency

    Science.gov (United States)

    ... Fax/Phone Home » Iodine Deficiency Leer en Español Iodine Deficiency Iodine is an element that is needed ... world’s population remains at risk for iodine deficiency. Iodine Deficiency FAQs WHAT IS THE THYROID GLAND? The ...

  14. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

    NARCIS (Netherlands)

    Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothée; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A. W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P. H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, François; Veltman, Joris A.; Lefeber, Dirk J.

    2016-01-01

    Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously

  15. Effects of soil applications of micro-nutrients and chelating agent citric acid on mineral nutrients in soybean seeds

    Science.gov (United States)

    Micro-nutrients deficiency in soil result in crop yield loss and poor seed quality. Correcting this deficiency is normally conducted by foliar or soil application. The objective of this research was to determine the effects of soil applications of five micro-nutrients (Mn, Cu, Zn, Mo, and B) with a ...

  16. Brain Lateralization in Mice Is Associated with Zinc Signaling and Altered in Prenatal Zinc Deficient Mice That Display Features of Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Stefanie Grabrucker

    2018-01-01

    Full Text Available A number of studies have reported changes in the hemispheric dominance in autism spectrum disorder (ASD patients on functional, biochemical, and morphological level. Since asymmetry of the brain is also found in many vertebrates, we analyzed whether prenatal zinc deficient (PZD mice, a mouse model with ASD like behavior, show alterations regarding brain lateralization on molecular and behavioral level. Our results show that hemisphere-specific expression of marker genes is abolished in PZD mice on mRNA and protein level. Using magnetic resonance imaging, we found an increased striatal volume in PZD mice with no change in total brain volume. Moreover, behavioral patterns associated with striatal lateralization are altered and the lateralized expression of dopamine receptor 1 (DR1 in the striatum of PZD mice was changed. We conclude that zinc signaling during brain development has a critical role in the establishment of brain lateralization in mice.

  17. Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders

    Science.gov (United States)

    Okamura, Kohji; Sakaguchi, Hironari; Sakamoto-Abutani, Rie; Nakanishi, Mahito; Nishimura, Ken; Yamazaki-Inoue, Mayu; Ohtaka, Manami; Periasamy, Vaiyapuri Subbarayan; Alshatwi, Ali Abdullah; Higuchi, Akon; Hanaoka, Kazunori; Nakabayashi, Kazuhiko; Takada, Shuji; Hata, Kenichiro; Toyoda, Masashi; Umezawa, Akihiro

    2016-01-01

    Disease-specific induced pluripotent stem cells (iPSCs) have been used as a model to analyze pathogenesis of disease. In this study, we generated iPSCs derived from a fibroblastic cell line of xeroderma pigmentosum (XP) group A (XPA-iPSCs), a rare autosomal recessive hereditary disease in which patients develop skin cancer in the areas of skin exposed to sunlight. XPA-iPSCs exhibited hypersensitivity to ultraviolet exposure and accumulation of single-nucleotide substitutions when compared with ataxia telangiectasia-derived iPSCs that were established in a previous study. However, XPA-iPSCs did not show any chromosomal instability in vitro, i.e. intact chromosomes were maintained. The results were mutually compensating for examining two major sources of mutations, nucleotide excision repair deficiency and double-strand break repair deficiency. Like XP patients, XPA-iPSCs accumulated single-nucleotide substitutions that are associated with malignant melanoma, a manifestation of XP. These results indicate that XPA-iPSCs may serve a monitoring tool (analogous to the Ames test but using mammalian cells) to measure single-nucleotide alterations, and may be a good model to clarify pathogenesis of XP. In addition, XPA-iPSCs may allow us to facilitate development of drugs that delay genetic alteration and decrease hypersensitivity to ultraviolet for therapeutic applications. PMID:27197874

  18. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  19. Genetics Home Reference: ataxia with vitamin E deficiency

    Science.gov (United States)

    ... Conditions Ataxia with vitamin E deficiency Ataxia with vitamin E deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Ataxia with vitamin E deficiency is a disorder that impairs the body's ...

  20. Genetics Home Reference: X-linked creatine deficiency

    Science.gov (United States)

    ... Health Conditions X-linked creatine deficiency X-linked creatine deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description X-linked creatine deficiency is an inherited disorder that primarily affects ...

  1. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

    NARCIS (Netherlands)

    Spaapen, L.J.; Bakker, J.A.; Meer, S.B. van der; Sijstermans, H.J.; Steet, R.A.; Wevers, R.A.; Jaeken, J.

    2005-01-01

    Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in

  2. Deficient Attention Is Hard to Find: Applying the Perceptual Load Model of Selective Attention to Attention Deficit Hyperactivity Disorder Subtypes

    Science.gov (United States)

    Huang-Pollock, Cynthia L.; Nigg, Joel T.; Carr, Thomas H.

    2005-01-01

    Background: Whether selective attention is a primary deficit in childhood Attention Deficit Hyperactivity Disorder (ADHD) remains in active debate. Methods: We used the "perceptual load" paradigm to examine both early and late selective attention in children with the Primarily Inattentive (ADHD-I) and Combined subtypes (ADHD-C) of ADHD. Results:…

  3. Increase in tartrate-resistant acid phosphatase of bone at the early stage of ascorbic acid deficiency in the ascorbate-requiring Osteogenic Disorder Shionogi (ODS) rat.

    Science.gov (United States)

    Goto, A; Tsukamoto, I

    2003-08-01

    The effect of ascorbic acid deficiency on bone metabolism was evaluated using the ascorbate-requiring Osteogenic Disorder Shionogi (ODS) rat model. Ascorbic acid (Asc)-deficient rats gained body weight in a manner similar to Asc-supplemented rats (control) during 3 weeks, but began to lose weight during the 4th week of Asc deficiency. The tartrate-resistant acid phosphatase (TRAP) activity in serum increased to about 2-fold the control value in the rats fed the Asc-free diet for 2, 3, and 4 weeks (AscD2, AscD3, and AscD4), while a decrease in the alkaline phosphatase (ALP) activity was observed only in AscD4 rats. The serum pyridinoline cross-linked carboxyterminal telopeptide of type I collagen (ICTP) level significantly increased to 1.3-, 1.4-, and 1.9-fold of that in the controls in AscD2, D3, and D4, respectively. The ALP activity in the distal femur was unchanged in AscD1, D2, and D3, but decreased to 50% of the control level in AscD4 rats. The TRAP activity in the distal femur increased to about 2-fold of that in the controls in the AscD2 and D3 and decreased to the control level in the AscD4 rats. The amount of hydroxyproline in the distal femur significantly decreased to about 80%, 70%, and 60% of the control in AscD2, D3, and D4 rats, respectively. These decreases were associated with a similar reduction in the calcium content of the distal femur. Histochemical analysis of the distal femur showed an increase in TRAP-positive cells in AscD2 and AscD3 rats and a decrease in the trabecular bone in AscD2, D3, and D4 rats. These results suggested that a deficiency of Asc stimulated bone resorption at an early stage, followed by a decrease in bone formation in mature ODS rats which already had a well-developed collagen matrix and fully differentiated osteoblasts.

  4. Protean manifestations of vitamin D deficiency, part 3: association with cardiovascular disease and disorders of the central and peripheral nervous systems.

    Science.gov (United States)

    Bell, David S H

    2011-05-01

    Vitamin D deficiency is associated with the risk factors of inflammation, insulin resistance and endothelial dysfunction, and left ventricular hypertrophy. As a result there is an increase in cardiovascular events (CVEs) associated with vitamin D deficiency. Vitamin D deficiency itself or secondary hyperparathyroidism or both may be responsible for the increase in CVEs. Correction of vitamin D deficiency may decrease the incidence of CVEs. Vitamin D deficiency is also associated with Alzheimer disease, schizophrenia, depression, and chronic pain and muscle weakness. Vitamin D deficiency is early treated with oral vitamin D supplements which may improve the manifestations of the diseases associated with vitamin D deficiency.

  5. Health Deficiencies

    Data.gov (United States)

    U.S. Department of Health & Human Services — A list of all health deficiencies currently listed on Nursing Home Compare, including the nursing home that received the deficiency, the associated inspection date,...

  6. Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation

    NARCIS (Netherlands)

    Bennett, M. J.; Spotswood, S. D.; Ross, K. F.; Comfort, S.; Koonce, R.; Boriack, R. L.; IJlst, L.; Wanders, R. J.

    1999-01-01

    This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids. Candidate subjects were

  7. Long-chain fatty acid triglyceride (TG) metabolism disorder impairs male fertility: a study using adipose triglyceride lipase deficient mice.

    Science.gov (United States)

    Masaki, Hidetake; Kim, Namhyo; Nakamura, Hitomi; Kumasawa, Keiichi; Kamata, Eriko; Hirano, Ken-Ichi; Kimura, Tadashi

    2017-07-01

    Does the deletion of adipose triglyceride lipase (Atgl) gene impair male fertility? The deletion of Atgl gene impaired male fertility but the effect was partially reversed by a low long-chain triglyceride (TG) diet. ATGL specifically hydrolyses long-chain fatty acid TG to diacylglycerol and a high level of expression of ATGL in testes has been reported. However, the role of ATGL in male fertility is unknown. To investigate the effect of deletion of Atgl gene on male fertility, cauda epididymides and testes were collected from wild-type, heterozygous and homozygous Atgl-deficient mice at 10 weeks of age and epididymal sperm analysis and histological analysis of the testes were performed. To investigate whether a medium-chain triglycerides (MCTs) replacement diet mitigated the impaired male fertility by deletion of Atgl gene, homozygous Atgl-deficient mice were fed a MCT replacement diet, or a standard diet including long-chain triglycerides (LCTs) in a control group, for 6 weeks from 5 weeks of age (n = 22). The systematic and local effects of the MCT replacement diet on spermatogenesis and sperm maturation in the epididymis were analyzed at 10 weeks of age. Hematoxylin and eosin staining in paraffin-embedded sections of testes and Oil Red O staining in frozen sections of testes were performed. The epididymal sperm concentrations were analyzed. Statistical analyses were performed using the Student's t-test or Mann-Whitney U test with Shapiro-Wilk Normality test. Although heterozygous mice were fertile and showed a similar number of epididymal total and motile sperm concentrations to wild-type mice, the deletion of Atgl gene in homozygous mice led to accumulation of TG deposits in testes and impaired spermatogenesis. The deletion of Atgl gene also impaired the sperm maturation process required for sperm to acquire the ability to move forward in the epididymis. The MCT replacement diet for 6 weeks increased the plasma level of non-esterified fatty acid (NEFA) (1

  8. Iron deficiency - a global problem

    International Nuclear Information System (INIS)

    Ali, S.M.

    1993-01-01

    Iron deficiency is an important nutritional global problem. This paper contains summery of information gathered from a dietary survey as iron deficiency anaemia is major public health problem in many developing countries including Pakistan. Comparison of anaemia in different age group and sex versus various regions in the world are given. In Pakistan also anaemia is widespread. According to the report of Micro-Nutrient survey of Pakistan 40% of the population are found to have low level of haemoglobin, more than half of pregnant women suffered from marginal or deficient haemoglobin. (A.B.)

  9. Iron deficiency - a global problem

    Energy Technology Data Exchange (ETDEWEB)

    Ali, S M [Pakistan Council for Science and Technology, Islamabad (Pakistan)

    1994-12-31

    Iron deficiency is an important nutritional global problem. This paper contains summery of information gathered from a dietary survey as iron deficiency anaemia is major public health problem in many developing countries including Pakistan. Comparison of anaemia in different age group and sex versus various regions in the world are given. In Pakistan also anaemia is widespread. According to the report of Micro-Nutrient survey of Pakistan 40% of the population are found to have low level of haemoglobin, more than half of pregnant women suffered from marginal or deficient haemoglobin. (A.B.).

  10. Autism as a disorder of deficiency of brain-derived neurotrophic factor and altered metabolism of polyunsaturated fatty acids.

    Science.gov (United States)

    Das, Undurti N

    2013-10-01

    Autism has a strong genetic and environmental basis in which inflammatory markers and factors concerned with synapse formation, nerve transmission, and information processing such as brain-derived neurotrophic factor (BDNF), polyunsaturated fatty acids (PUFAs): arachidonic (AA), eicosapentaenoic (EPA), and docosahexaenoic acids (DHA) and their products and neurotransmitters: dopamine, serotonin, acetylcholine, γ-aminobutyric acid, and catecholamines and cytokines are altered. Antioxidants, vitamins, minerals, and trace elements are needed for the normal metabolism of neurotrophic factors, eicosanoids, and neurotransmitters, supporting reports of their alterations in autism. But, the exact relationship among these factors and their interaction with genes and proteins concerned with brain development and growth is not clear. It is suggested that maternal infections and inflammation and adverse events during intrauterine growth of the fetus could lead to alterations in the gene expression profile and proteomics that results in dysfunction of the neuronal function and neurotransmitters, alteration(s) in the metabolism of PUFAs and their metabolites resulting in excess production of proinflammatory eicosanoids and cytokines and a deficiency of anti-inflammatory cytokines and bioactive lipids that ultimately results in the development of autism. Based on these evidences, it is proposed that selective delivery of BDNF and methods designed to augment the production of anti-inflammatory cytokines and eicosanoids and PUFAs may prevent, arrest, or reverse the autism disease process. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... A-Z Clinical Trials Publications and Resources Health Education and Awareness The Science Science Home Blood Disorders ... Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) ... We are interested in learning how having iron-deficiency anemia early in life ...

  12. Arginase-1 deficiency.

    Science.gov (United States)

    Sin, Yuan Yan; Baron, Garrett; Schulze, Andreas; Funk, Colin D

    2015-12-01

    Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete loss of enzyme function, which catalyzes the hydrolysis of arginine to ornithine and urea. ARG1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders. This review briefly highlights the current understanding of the etiology and pathophysiology of ARG1 deficiency derived from clinical case reports and therapeutic strategies stretching over several decades and reports on several exciting new developments regarding the pathophysiology of the disorder using ARG1 global and inducible knockout mouse models. Gene transfer studies in these mice are revealing potential therapeutic options that can be exploited in the future. However, caution is advised in extrapolating results since the lethal disease phenotype in mice is much more severe than in humans indicating that the mouse models may not precisely recapitulate human disease etiology. Finally, some of the functions and implications of ARG1 in non-urea cycle activities are considered. Lingering questions and future areas to be addressed relating to the clinical manifestations of ARG1 deficiency in liver and brain are also presented. Hopefully, this review will spark invigorated research efforts that lead to treatments with better clinical outcomes.

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... infection. A history of gastrointestinal surgery, such as weight-loss surgery—especially gastric bypass—or gastrectomy. Certain rare ... prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or even heart failure . Increased risk of infections Motor or cognitive development delays in children Pregnancy complications, ... Upper endoscopy to look for bleeding in the esophagus, stomach, and the first part of the ... blood, and sleep disorders, including iron-deficiency anemia. Learn about the current ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... A-Z Clinical Trials Publications and Resources Health Education and Awareness The Science Science Home Blood Disorders ... Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) programs. Our ... more information about Donor Iron Deficiency Study - Red Blood Cells ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and save lives. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the current and future NHLBI efforts to improve health through ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia. We stimulate high-impact research. Our Trans-Omics for Precision Medicine (TOPMed) Program now includes ... Studies (REDS) program Blood Disorders and Blood Safety Trans-Omics for Precision Medicine (TOPMed) Program Non-NHLBI ...

  18. Model of how plants sense zinc deficiency

    DEFF Research Database (Denmark)

    Assuncao, Ana G.L.; Persson, Daniel Olof; Husted, Søren

    2013-01-01

    to develop plant-based solutions addressing nutrient-use-efficiency and adaptation to nutrient-limited or -toxic soils. Recently two transcription factors of the bZIP family (basic-region leucine zipper) have been identified in Arabidopsis and shown to be pivotal in the adaptation response to zinc deficiency...

  19. EFFECT OF GROWTH HORMONE REPLACEMENT THERAPY ON THE QUALITY OF LIFE IN WOMEN WITH GROWTH HORMONE DEFICIENCY WHO HAVE A HISTORY OF ACROMEGALY VERSUS OTHER DISORDERS

    Science.gov (United States)

    Valassi, Elena; Brick, Danielle J.; Johnson, Jessica C.; Biller, Beverly M. K.; Klibanski, Anne; Miller, Karen K.

    2013-01-01

    Objective To compare the response in quality of life (QoL) to growth hormone (GH) replacement in women with GH deficiency (GHD) and a history of acromegaly with that in women with GHD of other causes. Methods Fifty-five women with GHD were studied: 17 with prior acromegaly and 38 with other causes of GHD. We compared two 6-month, randomized, placebo-controlled studies of GH therapy in women with hypopituitarism conducted with use of the same design—one in women with a history of acromegaly and one in women with no prior acromegaly. QoL was assessed with the following questionnaires: the QoL-Assessment of Growth Hormone deficiency in Adults (AGHDA), the Symptom Questionnaire, and the 36-Item Short-Form Health Survey (SF-36). Results The 2 groups had comparable mean pretreatment age, body mass index, and QoL scores and comparable mean GH dose at 6 months (0.61 ± 0.30 versus 0.67 ± 0.27 mg daily). After 6 months of GH replacement therapy, women with GHD and prior acromegaly demonstrated a greater improvement in AGHDA score, four SF-36 subscales (Role Limitations due to Physical Health, Energy or Fatigue, Emotional Well-Being, and Social Functioning), and the Somatic Symptoms subscale of the Symptom Questionnaire than did women with GHD of other causes. Poorer pretreatment QoL was associated with a greater improvement in QoL after administration of GH. Conclusion In this study, GH replacement therapy improved QoL in women with GHD and a history of acromegaly but not in women with GHD due to other hypothalamic and pituitary disorders. Further studies are needed to determine the long-term risks versus benefits of GH replacement in patients who develop GHD after definitive treatment for acromegaly. PMID:22440981

  20. Zinc Deficiency in Humans and its Amelioration

    OpenAIRE

    Yashbir Singh Shivay

    2015-01-01

    Zinc (Zn) deficiency in humans has recently received considerable attention. Global mortality in children under 5 years of age in 2004 due to Zn deficiency was estimated at 4,53,207 as against 6,66,771 for vitamin A deficiency; 20,854 for iron deficiency and 3,619 for iodine deficiency. In humans 2800-3000 proteins contain Zn prosthetic group and Zn is an integral component of zinc finger prints that regulate DNA transcription. Zinc is a Type-2 nutrient, which means that its concentration in ...

  1. Neurological Disorders in Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hugh J Freeman

    2008-01-01

    Full Text Available Celiac disease may initially present as a neurological disorder. Alternatively, celiac disease may be complicated by neurological changes. With impaired nutrient absorption, different deficiency syndromes may occur and these may be manifested clinically with neurological changes. However, in patients with deficiency syndromes, extensive involvement of the small intestine with celiac disease is often evident. There are a number of reports of celiac disease associated with neuropathy, ataxia, dementia and seizure disorder. In these reports, there is no clear relationship with nutrient deficiency and a precise mechanism for the neurological changes has not been defined. A small number of patients have been reported to have responded to vitamin E administration, but most do not. In some, gluten antibodies have also been described, especially in those with ataxia, but a consistent response to a gluten-free diet has not been defined. Screening for celiac disease should be considered in patients with unexplained neurological disorders, including ataxia and dementia. Further studies are needed, however, to determine if a gluten-free diet will lead to improvement in the associated neurological disorder.

  2. Deficient attention is hard to find: applying the perceptual load model of selective attention to attention deficit hyperactivity disorder subtypes.

    Science.gov (United States)

    Huang-Pollock, Cynthia L; Nigg, Joel T; Carr, Thomas H

    2005-11-01

    Whether selective attention is a primary deficit in childhood Attention Deficit Hyperactivity Disorder (ADHD) remains in active debate. We used the perceptual load paradigm to examine both early and late selective attention in children with the Primarily Inattentive (ADHD-I) and Combined subtypes (ADHD-C) of ADHD. No evidence emerged for selective attention deficits in either of the subtypes, but sluggish cognitive tempo was associated with abnormal early selection. At least some, and possibly most, children with DSM-IV ADHD have normal selective attention. Results support the move away from theories of attention dysfunction as primary in ADHD-C. In ADHD-I, this was one of the first formal tests of posterior attention network dysfunction, and results did not support that theory. However, ADHD children with sluggish cognitive tempo (SCT) warrant more study for possible early selective attention deficits.

  3. Rapid crown root development confers tolerance to zinc deficiency in rice

    Directory of Open Access Journals (Sweden)

    Amrit Kaur eNanda

    2016-03-01

    Full Text Available Zinc (Zn deficiency is one of the leading nutrient disorders in rice (Oryza sativa. Many studies have identified Zn efficient rice genotypes, but causal mechanisms for Zn deficiency tolerance remain poorly understood. Here we report a detailed study of the impact of Zn deficiency on crown root development of rice genotypes, differing in their tolerance to this stress. Zn deficiency delayed crown root development and plant biomass accumulation in both Zn efficient and inefficient genotypes, with the effects being much stronger in the latter. Zn efficient genotypes had developed new crown roots as early as three days after transplanting (DAT to a Zn deficient field and that was followed by a significant increase in total biomass by 7 DAT. Zn-inefficient genotypes developed few new crown roots and did not increase biomass during the first seven days following transplanting. This correlated with Zn efficient genotypes retranslocating a higher proportion of shoot Zn to their roots, compared to Zn inefficient genotypes. These latter genotypes were furthermore not efficient in utilizing the limited Zn for root development. Histological analyses indicated no anomalies in crown tissue of Zn-efficient or inefficient genotypes that would have suggested crown root emergence was impeded. We therefore conclude that the rate of crown root initiation was differentially affected by Zn deficiency between genotypes. Rapid crown root development, following transplanting, was identified as a main causative trait for tolerance to Zn deficiency and better Zn retranslocation from shoot to root was a key attribute of Zn-efficient genotypes.

  4. Burden of Hemoglobinopathies (Thalassemia, Sickle Cell Disorders and G6PD Deficiency) in Iran, 1990-2010: findings from the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Rezaei, Nazila; Naderimagham, Shohreh; Ghasemian, Anoosheh; Saeedi Moghaddam, Sahar; Gohari, Kimia; Zareiy, Saeid; Sobhani, Sahar; Modirian, Mitra; Kompani, Farzad

    2015-08-01

    Hemoglobinopathies are known as the most common genetic disorders in Iran. The paper aims to provide global estimates of deaths and disability adjusted life years (DALYs) due to hemoglobinopathies in Iran by sex and age during 1990 to 2010 and describe the challenges due to limitations of the Global Burden of Disease Study 2010 (GBD 2010). GBD 2010 estimates of the numbers of deaths and years of life lost (YLLs) due to premature mortality were calculated using the Cause of Death Ensemble model (CODEm). Years of life lost due to disability (YLDs) were computed by multiplication of prevalence, the disability weight for occurrence of sequelae, and the duration of symptoms. Prevalence was estimated through a systematic search of published and available unpublished data sources, with a Bayesian meta-regression model developed for GBD 2010. Disability weights were produced using collected data from population-based surveys. Uncertainty from all inputs was incorporated into the computations of DALYs using simulation methods. We aim to prepare and criticize the results of GBD 2010 and provide some recommendations for reaching better conclusions about the burden of hemoglobinopathies in Iran. Between 1990 and 2010, the overall deaths attributed to hemoglobinopathies decreased from 0.51% to 0.36% of total deaths, with the corresponding burden declining from 1% to 0.82% of total DALYs. There was a reduction in deaths and DALYs rates for all ages and the rates attributed to all ages followed the same pattern in Iranian men and women. The highest DALYs for hemoglobinopathies, thalassemia, sickle cell disorder, and glucose-6-phosphate dehydrogenase deficiency (G6PD-D) were found in those aged less than 5 years. The collective burden of all of these hemoglobin disorder was lower in 2010 than in 1990. Although the screening programs in Iran have been very successful in reducing the number of thalassemia patients between 1990 to 2010, in order to provide a better estimation of the

  5. Effectiveness of Parents-Focused Cognitive-Behavioral Therapy on Attention Deficit Hyperactivity Disorder Symptoms, Obesity and Self-Esteem of Overweight Children with Attention Deficient Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Afsaneh Karbasi Amel

    2018-01-01

    Full Text Available Background: Attention deficit hyperactivity disorder (ADHD is the most common behavioral problems that cause hyperactivity, attention deficits, academic failure, and emotional and behavioral problems in preschool and elementary school that is often hidden from the parents' eyes. The aim of this study was to determine the effectiveness of parent-based cognitive-behavioral therapy (CBT on ADHD symptoms (including attention deficit disorder, restlessness, and impulsivity, overweight and self-esteem of 6–11-year-old obese children with attention deficit hyperactivity in Isfahan. Materials and Methods: This quasi-experimental study was carried out on 40 children aged 6–11 years with ADHD and overweight or obesity (above the 85th percentile in weight for age, height, and sex diagram that their parents referred to Isfahan child and adolescent psychiatric clinic of Ali Asghar Hospital in 2015. For twenty patients, only ADHD treatment was applied, and they received no other intervention, but the others in experimental group participated in CBT sessions. Analysis tools were Coppersmith Self-Esteem Scale, ADHD conners' test, and the body mass index (BMI. Data were analyzed using analysis of variance with repeated measurements. Results: CBT by teaching parents had a significant effect on ADHD symptoms, the self-esteem of overweight and obese children with ADHD in posttest and follow-up. The results also showed that had a significant effect on ADHD symptoms, overweight and self-esteem of the obese children with ADHD (P < 0.001. Conclusions: Parents focused CBT can be considered as a complementary treatment for reducing ADHD symptoms and BMI and increased self-esteem in the obese ADHD children.

  6. Effectiveness of Parents-Focused Cognitive-Behavioral Therapy on Attention Deficit Hyperactivity Disorder Symptoms, Obesity and Self-Esteem of Overweight Children with Attention Deficient Hyperactivity Disorder.

    Science.gov (United States)

    Karbasi Amel, Afsaneh; Karbasi Amel, Saeed; Erfan, Arefeh

    2018-01-01

    Attention deficit hyperactivity disorder (ADHD) is the most common behavioral problems that cause hyperactivity, attention deficits, academic failure, and emotional and behavioral problems in preschool and elementary school that is often hidden from the parents' eyes. The aim of this study was to determine the effectiveness of parent-based cognitive-behavioral therapy (CBT) on ADHD symptoms (including attention deficit disorder, restlessness, and impulsivity), overweight and self-esteem of 6-11-year-old obese children with attention deficit hyperactivity in Isfahan. This quasi-experimental study was carried out on 40 children aged 6-11 years with ADHD and overweight or obesity (above the 85 th percentile in weight for age, height, and sex diagram) that their parents referred to Isfahan child and adolescent psychiatric clinic of Ali Asghar Hospital in 2015. For twenty patients, only ADHD treatment was applied, and they received no other intervention, but the others in experimental group participated in CBT sessions. Analysis tools were Coppersmith Self-Esteem Scale, ADHD conners' test, and the body mass index (BMI). Data were analyzed using analysis of variance with repeated measurements. CBT by teaching parents had a significant effect on ADHD symptoms, the self-esteem of overweight and obese children with ADHD in posttest and follow-up. The results also showed that had a significant effect on ADHD symptoms, overweight and self-esteem of the obese children with ADHD ( P < 0.001). Parents focused CBT can be considered as a complementary treatment for reducing ADHD symptoms and BMI and increased self-esteem in the obese ADHD children.

  7. THE DISORDERS OF THE LIPID METABOLISM IN THE EXPERIMENTAL ESTROGENIC DEFICIENCY AND THE EFFECT OF THE VEGETAL ANTIOXIDANTS DIET

    Directory of Open Access Journals (Sweden)

    Daniela Badoi

    2012-03-01

    Full Text Available In our days we have a great number of cardiovascular diseases with atherosclerotic etiopathogeny. That`s whythere is a important preocupation for identifying the atherogenic risk factors (lipid metabolism disorders. This studyfollows the effects of the ovarian hormones deficit in surgical menopause (experimental ovariectomy. The absence of theendogen estrogens disrupts the lipid metabolism and diminishes the antioxidant capacity. Another goal was to evaluatethe lipid profile improved by taking a flax seed diet rich in phytoestrogens. The experiment will be performed on whiterats, females, of the Wistar race. The supplementary diet with flax seeds will be administered to the ovariectomizedgroups as well as to the control groups. In the case of animals with a hormonal deficit (ovariectomy we found thepresence of dyslipidemia: hypercholesterolemia and/or hypertriglyceridemia. Supplementing the diet with flax seeds ledto the decreasing of the total seric cholesterol (p>0.05 and of the seric triglycerides (p0.05, after supplementing the diet with whole flax seeds, which suggests the protection of theendothelium, with the diminishing of the risk of triggering endothelial dysfunction. These results demonstrate thebeneficial effects of phytoestrogens from flax seed on lipid metabolism in experimental menopause.

  8. Neurobiological evidence for attention bias to food, emotional dysregulation, disinhibition and deficient somatosensory awareness in obesity with binge eating disorder.

    Science.gov (United States)

    Aviram-Friedman, Roni; Astbury, Nerys; Ochner, Christopher N; Contento, Isobel; Geliebter, Allan

    2018-02-01

    To refine the biobehavioral markers of binge eating disorder (BED). We conducted fMRI brain scans using images of high energy processed food (HEPF), low energy unprocessed food (LEUF), or non-foods (NF) in 42 adults (obese with BED [obese -BED; n=13] and obese with no BED [obese non-BED; n=29]) selected via ads. Two blood oxygenated level dependent (BOLD) signal contrast maps were examined: food versus nonfood, and HEPF versus LEUF. In addition, score differences on the disinhibition scale were correlated with BOLD signals. food versus nonfood showed greater BOLD activity for BED in emotional, motivational and somatosensory brain areas: insula, anterior cingulate cortex (ACC), Brodmann areas (BA) 19 & 32, inferior parietal lobule (IPL), posterior cingulate cortex (PCC), and lingual, postcentral, middle temporal and cuneate gyri (p≤0.005; k≥88). HEPF versus LEUF showed greater BOLD activity for BED in inhibitory brain regions: BA 6, middle and superior frontal gyri (pFood images elicited neural activity indicating attention bias (cuneate & PCG), emotion dysregulation (BA 19 & 32), and disinhibition (MFG, BA6 & SFG) in obese with BED. These may help tailor a treatment for the obesity with BED phenotype. Copyright © 2017. Published by Elsevier Inc.

  9. Helping to eliminate vitamin A deficiency disorders using nuclear and related techniques. Report of an IAEA consultants' meeting, 30 November - 2 December 1994

    International Nuclear Information System (INIS)

    1995-01-01

    A Consultants' Meeting was convened by the IAEA from 30 November to 2 December 1994, and made recommendations on the objectives and strategies of a new Coordinated Research Programme (CRP), ''Helping to Eliminate Vitamin A Deficiency Disorders Using Nuclear and Related Techniques''. The objectives of the CRP will be to i) develop and/or modify isotopic and related techniques for measuring whole body retinol stores and carotenoid bioavailability and bioconversion which can be transferred to food-based vitamin A intervention programmes in developing countries; ii) evaluate and improve the sensitivity of commonly used biological, ecological, and dietary indicators of vitamin A status in human populations; iii) formulate model protocols which incorporate isotopic and related techniques in evaluations of intervention programmes, in collaboration with expert nutrition groups (e.g., WHO, FAO, UNICEF, MI, USAID, etc.). Priority will be given to proposals which aim to improve or validate the deuterated retinol dilution method for measuring retinol stores, particularly during pregnancy or during the complementary feeding in young children, and which propose to develop appropriate methods for measuring absorption and the bioavailability of provitamin A carotenoids. The production of uniformly-labelled carotenoids is of particular interest but proposals which use extrinsic labels as well as non-isotopic methods will also be considered. The studies should be conducted in developing countries through collaborations via 'twinning' relationships between scientists of developing and industrialized countries. 19 refs, 2 figs

  10. Hepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.

    Science.gov (United States)

    Perlmutter, David H; Silverman, Gary A

    2011-03-01

    In α1-antitrypsin (AT) deficiency, a point mutation renders a hepatic secretory glycoprotein prone to misfolding and polymerization. The mutant protein accumulates in the endoplasmic reticulum of liver cells and causes hepatic fibrosis and hepatocellular carcinoma by a gain-of-function mechanism. Genetic and/or environmental modifiers determine whether an affected homozygote is susceptible to hepatic fibrosis/carcinoma. Two types of proteostasis mechanisms for such modifiers have been postulated: variation in the function of intracellular degradative mechanisms and/or variation in the signal transduction pathways that are activated to protect the cell from protein mislocalization and/or aggregation. In recent studies we found that carbamazepine, a drug that has been used safely as an anticonvulsant and mood stabilizer, reduces the hepatic load of mutant AT and hepatic fibrosis in a mouse model by enhancing autophagic disposal of this mutant protein. These results provide evidence that pharmacological manipulation of endogenous proteostasis mechanisms is an appealing strategy for chemoprophylaxis in disorders involving gain-of-function mechanisms.

  11. Does Periconceptional Fish Consumption by Parents Affect the Incidence of Autism Spectrum Disorder and Intelligence Deficiency? A Case-control Study in Tianjin, China

    Institute of Scientific and Technical Information of China (English)

    GAO Lei; CUI Shan Shan; HAN Yu; DAI Wei; SU Yuan Yuan; ZHANG Xin

    2016-01-01

    Objective This study aimed to explore the association between periconceptional fish consumption by parents and autism spectrum disorder (ASD) and intelligence deficiency (ID). Methods A case-control study was conducted through a questionnaire with 108 ASD cases, 79 ID cases, and 108 controls. The ASD and ID cases were students from special educational schools in Tianjin from 2012 to 2014. The age- and sex-matched controls were from a high school, three primary schools, and a kindergarten in Tianjin. Multivariate logistic regression was performed. Results Paternal habit of eating hairtail before fertilization, maternal preference for fruits during pregnancy, and maternal habit of eating grass carp during pregnancy were preventive factors for ASD. Paternal habit of drinking alcohol before fertilization was a risk factor for ID, whereas maternal preference for fruits during pregnancy and maternal habit of eating crucian carp during pregnancy were protective factors for ID. Conclusion Parental fish consumption is beneficial for the prevention of ASD and ID. Meanwhile, the protective effects of fish consumption on ASD and ID differ. More attention should be paid to the combined effect of other food when eating fish.

  12. Behaviour planning and problem solving deficiencies in children with symptoms of attention deficit hyperactivity disorder from the Balobedu culture, Limpopo province, South Africa.

    Science.gov (United States)

    Pila-Nemutandani, Refilwe Gloria; Meyer, Anneke

    2016-07-01

    To compare planning behaviour (frontal lobe functioning) in children with and without symptoms of attention deficit hyperactivity disorder (ADHD). A total of 90 children (45 with symptoms of ADHD and 45 matched controls without ADHD symptoms) of both genders, who were medication naïve, from the Balobedu culture (Limpopo province, South Africa), aged 7-13 years, participated in the study. The performance of the two groups was compared on a test of planning and problem solving, the Tower of London (ToL) task. The results were analysed as a function of gender and ADHD subtype. The Finger Tapping test (testing fine motor skills) was used as a control test to verify that the expected differences were not due to poor motor skills. The children with ADHD symptoms scored significantly lower than the non-ADHD comparison group which indicated deficiency in frontal lobe functioning (p = 0.00). The difference in performance was not due to poor motor control (p = 0.70). Children with ADHD symptoms show deficits in behavioural planning which indicates impairment of functions of the frontal areas supplied by the mesocortical dopamine branch. More so than others, the ADHD Inattentive and Combined subtypes showed poor performance in the Tower of London task, indicating poor organisational and planning skills in these groups. The results also did show that the difference was not due to problems with motor control and that the ToL task is a culture-fair instrument for testing planning behaviour.

  13. Mercury exposure, nutritional deficiencies and metabolic disruptions may affect learning in children

    Directory of Open Access Journals (Sweden)

    Patrick Lyn

    2009-10-01

    Full Text Available Abstract Among dietary factors, learning and behavior are influenced not only by nutrients, but also by exposure to toxic food contaminants such as mercury that can disrupt metabolic processes and alter neuronal plasticity. Neurons lacking in plasticity are a factor in neurodevelopmental disorders such as autism and mental retardation. Essential nutrients help maintain normal neuronal plasticity. Nutritional deficiencies, including deficiencies in the long chain polyunsaturated fatty acids eicosapentaenoic acid and docosahexaenoic acid, the amino acid methionine, and the trace minerals zinc and selenium, have been shown to influence neuronal function and produce defects in neuronal plasticity, as well as impact behavior in children with attention deficit hyperactivity disorder. Nutritional deficiencies and mercury exposure have been shown to alter neuronal function and increase oxidative stress among children with autism. These dietary factors may be directly related to the development of behavior disorders and learning disabilities. Mercury, either individually or in concert with other factors, may be harmful if ingested in above average amounts or by sensitive individuals. High fructose corn syrup has been shown to contain trace amounts of mercury as a result of some manufacturing processes, and its consumption can also lead to zinc loss. Consumption of certain artificial food color additives has also been shown to lead to zinc deficiency. Dietary zinc is essential for maintaining the metabolic processes required for mercury elimination. Since high fructose corn syrup and artificial food color additives are common ingredients in many foodstuffs, their consumption should be considered in those individuals with nutritional deficits such as zinc deficiency or who are allergic or sensitive to the effects of mercury or unable to effectively metabolize and eliminate it from the body.

  14. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... links) Baby's First Test GeneReview: Arginase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  15. The Metabolic Burden of Methyl Donor Deficiency with Focus on the Betaine Homocysteine Methyltransferase Pathway

    Directory of Open Access Journals (Sweden)

    Rima Obeid

    2013-09-01

    Full Text Available Methyl groups are important for numerous cellular functions such as DNA methylation, phosphatidylcholine synthesis, and protein synthesis. The methyl group can directly be delivered by dietary methyl donors, including methionine, folate, betaine, and choline. The liver and the muscles appear to be the major organs for methyl group metabolism. Choline can be synthesized from phosphatidylcholine via the cytidine-diphosphate (CDP pathway. Low dietary choline loweres methionine formation and causes a marked increase in S-adenosylmethionine utilization in the liver. The link between choline, betaine, and energy metabolism in humans indicates novel functions for these nutrients. This function appears to goes beyond the role of the nutrients in gene methylation and epigenetic control. Studies that simulated methyl-deficient diets reported disturbances in energy metabolism and protein synthesis in the liver, fatty liver, or muscle disorders. Changes in plasma concentrations of total homocysteine (tHcy reflect one aspect of the metabolic consequences of methyl group deficiency or nutrient supplementations. Folic acid supplementation spares betaine as a methyl donor. Betaine is a significant determinant of plasma tHcy, particularly in case of folate deficiency, methionine load, or alcohol consumption. Betaine supplementation has a lowering effect on post-methionine load tHcy. Hypomethylation and tHcy elevation can be attenuated when choline or betaine is available.

  16. Nutrient imbalance in Norway spruce

    International Nuclear Information System (INIS)

    Thelin, Gunnar

    2000-11-01

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  17. Nutrient imbalance in Norway spruce

    Energy Technology Data Exchange (ETDEWEB)

    Thelin, Gunnar

    2000-11-01

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  18. Integrated nutrient management for orange-fleshed sweet potato

    African Journals Online (AJOL)

    ACSS

    and variety, suggesting that the orange-fleshed sweet potato varieties responded similarly to nutrient ... fleshed ones, can help alleviate vitamin A deficiency .... LSD (0.05) for variety (V) mean. = 14.8 .... Information System, Working Paper #2.

  19. Deficient neural activity subserving decision-making during reward waiting time in intertemporal choice in adult attention-deficit hyperactivity disorder.

    Science.gov (United States)

    Todokoro, Ayako; Tanaka, Saori C; Kawakubo, Yuki; Yahata, Noriaki; Ishii-Takahashi, Ayaka; Nishimura, Yukika; Kano, Yukiko; Ohtake, Fumio; Kasai, Kiyoto

    2018-04-24

    Impulsivity, which significantly affects social adaptation, is an important target behavioral characteristic in interventions for attention-deficit hyperactivity disorder (ADHD). Typically, people are willing to wait longer to acquire greater rewards. Impulsivity in ADHD may be associated with brain dysfunction in decision-making involving waiting behavior under such situations. We tested the hypothesis that brain circuitry during a period of waiting (i.e., prior to the acquisition of reward) is altered in adults with ADHD. The participants included 14 medication-free adults with ADHD and 16 healthy controls matched for age, sex, IQ, and handedness. The behavioral task had participants choose between a delayed, larger monetary reward and an immediate, smaller monetary reward, where the reward waiting time actually occurred during functional magnetic resonance imaging measurement. We tested for group differences in the contrast values of blood-oxygen-level dependent signals associated with the length of waiting time, calculated using the parametric modulation method. While the two groups did not differ in the time discounting rate, the delay-sensitive contrast values were significantly lower in the caudate and visual cortex in individuals with ADHD. The higher impulsivity scores were significantly associated with lower delay-sensitive contrast values in the caudate and visual cortex. These results suggest that deficient neural activity affects decision-making involving reward waiting time during intertemporal choice tasks, and provide an explanation for the basis of impulsivity in adult ADHD. © 2018 The Author. Psychiatry and Clinical Neurosciences © 2018 Japanese Society of Psychiatry and Neurology.

  20. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder

    NARCIS (Netherlands)

    Bok, Levinus A.; Vreken, Peter; Wijburg, Frits A.; Wanders, Ronald J. A.; Gregersen, Niels; Corydon, Morten J.; Waterham, Hans R.; Duran, Marinus

    2003-01-01

    OBJECTIVE: To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is not fully understood. STUDY DESIGN: We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma

  1. Deficiency symptoms of nitrogen, phosphorus, calcium and sulphur in pepper (Capsicum spp) cv malagueta

    International Nuclear Information System (INIS)

    Maruca, F.A.; Gouveia, P.R.; Teixeira, N.T.

    1989-01-01

    The pepper (Capsium spp) was cultivated in sand and nutritive solution to describe the deficiency symptoms of N, P, Ca and S. The deficiency symptoms and the first lack signals were clear to P and N nutrient. (author) [pt

  2. ECONOMICAL BASIS TO ADDRESS MICRONUTRIENT DEFICIENCIES IN DEVELOPING WORLD

    Directory of Open Access Journals (Sweden)

    Amirul Hassan

    2015-12-01

    Full Text Available Malnutrition has been called by economists at the World Bank as the “non-human face” of poverty,1 Adults who were malnourished as children earn at least 20% less on average than those who weren’t , 2.Malnutrition is often caused by underlying economics, i.e. the lack of money. Economics is very important in regards to malnutrition; it allows an individual to purchase nutrients. In many places around the world, a lack of money prevents the purchase of a variety of foods. The lack in variety usually leads to micronutrient malnutrition. Economics also decides the production of food in all countries around the world and the ability of a country to overcome difficult times. Thus economics affects ALL people at ALL levels of society, 3.Micronutrient deficiencies also known as ‘hidden hunger’ are determining and aggravating factors for health status and quality of life. It is estimated half of anaemia cases are due to iron deficiency , 4.  Almost half of children in low- and middle-income countries – 47% of under-fives are affected by anaemia, impairing cognitive and physical development,5. Iodine deficiency is the greatest single cause of mental retardation and brain damage. Coincidently,  the number of countries in which iodine-deficiency disorders were considered a public health concern reduced by 43% between 1993 and 2007,6.  Zinc deficiency affects children’s health and physical growth; it is also essential for mothers during pregnancy. It is estimated to cause 4% of deaths in pre-school aged children in lower-income countries. 7 . The Global Burden of Disease estimates showed that among the 26 major risk factors of the global burden of disease,8 iron deficiency ranks ninth overall, zinc deficiency is eleventh, and vitamin A deficiency, is thirteenth. Annually each developing country of the world are losing over millions or billions US $ in Gross Domestic Product (GDP to vitamins and minerals deficiencies. But scaling up

  3. ECONOMICAL BASIS TO ADDRESS MICRONUTRIENT DEFICIENCIES IN DEVELOPING WORLD

    Directory of Open Access Journals (Sweden)

    Amirul Hassan

    2015-01-01

    Full Text Available Malnutrition has been called by economists at the World Bank as the “non-human face” of poverty,1 Adults who were malnourished as children earn at least 20% less on average than those who weren’t , 2.Malnutrition is often caused by underlying economics, i.e. the lack of money. Economics is very important in regards to malnutrition; it allows an individual to purchase nutrients. In many places around the world, a lack of money prevents the purchase of a variety of foods. The lack in variety usually leads to micronutrient malnutrition. Economics also decides the production of food in all countries around the world and the ability of a country to overcome difficult times. Thus economics affects ALL people at ALL levels of society, 3.Micronutrient deficiencies also known as ‘hidden hunger’ are determining and aggravating factors for health status and quality of life. It is estimated half of anaemia cases are due to iron deficiency , 4.  Almost half of children in low- and middle-income countries – 47% of under-fives are affected by anaemia, impairing cognitive and physical development,5. Iodine deficiency is the greatest single cause of mental retardation and brain damage. Coincidently,  the number of countries in which iodine-deficiency disorders were considered a public health concern reduced by 43% between 1993 and 2007,6.  Zinc deficiency affects children’s health and physical growth; it is also essential for mothers during pregnancy. It is estimated to cause 4% of deaths in pre-school aged children in lower-income countries. 7 . The Global Burden of Disease estimates showed that among the 26 major risk factors of the global burden of disease,8 iron deficiency ranks ninth overall, zinc deficiency is eleventh, and vitamin A deficiency, is thirteenth. Annually each developing country of the world are losing over millions or billions US $ in Gross Domestic Product (GDP to vitamins and minerals deficiencies. But scaling up core

  4. Molecular characterization of FXI deficiency.

    Science.gov (United States)

    Berber, Ergul

    2011-02-01

    Factor XI (FXI) deficiency is a rare autosomal bleeding disease associated with genetic defects in the FXI gene. It is a heterogeneous disorder with variable tendency in bleeding and variable causative FXI gene mutations. It is characterized as a cross-reacting material-negative (CRM-) FXI deficiency due to decreased FXI levels or cross-reacting material-positive (CRM+) FXI deficiency due to impaired FXI function. Increasing number of mutations has been reported in FXI mutation database, and most of the mutations are affecting serine protease (SP) domain of the protein. Functional characterization for the mutations helps to better understand the molecular basis of FXI deficiency. Prevalence of the disease is higher in certain populations such as Ashkenazi Jews. The purpose of this review is to give an overview of the molecular basis of congenital FXI deficiency.

  5. Nutrient reference values for bioactives: new approaches needed?

    DEFF Research Database (Denmark)

    Biesalski, Hans Konrad; Erdman Jr., John W.; Hathcock, John

    2013-01-01

    Nutrients can be classified as either "essential" or "non-essential," the latter are also termed bioactive substances. Whereas the absence of essential nutrients from the diet results in overt deficiency often times with moderate to severe physiological decrements, the absence of bioactive substa...

  6. Foliar nutrient analysis of sugar maple decline: retrospective vector diagnosis

    Science.gov (United States)

    Victor R. Timmer; Yuanxin Teng

    1999-01-01

    Accuracy of traditional foiiar analysis of nutrient disorders in sugar maple (Acer saccharum Marsh) is limited by lack of validation and confounding by nutrient interactions. Vector nutrient diagnosis is relatively free of these problems. The technique is demonstrated retrospectively on four case studies. Diagnostic interpretations consistently...

  7. ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.

    Science.gov (United States)

    Juaristi, Inés; García-Martín, María L; Rodrigues, Tiago B; Satrústegui, Jorgina; Llorente-Folch, Irene; Pardo, Beatriz

    2017-07-01

    ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at postnatal day 17. We find that lactate production upon mitochondrial blockade depends on up-regulation of lactate formation in astrocytes rather than in neurons. However, ARALAR-deficiency decreased cell respiration in neurons, not astrocytes, which maintained unchanged respiration and lactate production. As the primary site of ARALAR-deficiency is neuronal, this explains the lack of accumulation of brain lactate in ARALAR-deficiency in humans and mice. On the other hand, we find that the cytosolic and mitochondrial components of the glycerol phosphate shuttle are present in astrocytes with similar activities. This suggests that glycerol phosphate shuttle is the main NADH shuttle in astrocytes and explains the absence of effects of ARALAR-deficiency in these cells. © 2017 International Society for Neurochemistry.

  8. A rare combination: congenital factor VII deficiency with Chiari malformation.

    Science.gov (United States)

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

    Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

  9. What Are Rare Clotting Factor Deficiencies?

    Science.gov (United States)

    ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ...

  10. Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling.

    Science.gov (United States)

    Balgir, R S

    2010-06-01

    (i) To study the outcome of ignorance and lack of awareness about sickle cell disease and G-6-PD deficiency among Dhelki Kharia tribal families of Orissa, and (ii) to study the reproductive output in relation to clinical genetics and patho-physiological implications. A random genetic study of screening for hemoglobinopathies and G-6-PD deficiency among Dhelki Kharia tribal community in Sundargarh district of Orissa was carried out for intervention during the year 2000-2004. A total of 81 Dhelki Kharia families were screened and six families with double heterozygosity for above genetic anomalies were encountered. About 2-3 ml. intravenous blood samples were collected in EDTA by disposable syringes and needles after taking informed consent from each individual in the presence of a doctor and community leaders and sent to laboratory at Bhubaneswar for hematological investigations. Analysis was carried out following the standard procedures after cross checking for quality control. There were 12 (about 52%) children out of 23 who were either suffering from sickle cell trait or disease in concurrence with G-6-PD deficiency in hemizygous/heterozygous/homozygous condition in Dhelki Kharia tribal community of Orissa. There were on an average 3.83 number of surviving (range 2-6) children per mother in families of G-6-PD deficiency and sickle cell disorders. The average number of children (3.83) born (range 2-6 children) per mother to carrier/affected mother was much higher than the average for India (2.73). It is very difficult to maintain the normal health of an affected child with aberrant anomalies due to exorbitant cost of treatment, frequent transfusions and huge involvement of economy. One of the implications of aberrant heterosis is its adverse affects on routine individual physiology and hard activities. It is suggested to limit the family size in carrier couples to avoid aberrant heterosis of hereditary hemolytic disorders in their offsprings.

  11. Immunological characterization and transcription profiling of peripheral blood (PB monocytes in children with autism spectrum disorders (ASD and specific polysaccharide antibody deficiency (SPAD: case study

    Directory of Open Access Journals (Sweden)

    Jyonouchi Harumi

    2012-01-01

    Full Text Available Abstract Introduction There exists a small subset of children with autism spectrum disorders (ASD characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD, resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG (ASD/SPAD. This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8, treatment-resistant seizure disorders (4/8, and chronic gastrointestinal (GI symptoms (5/8 at high frequencies. Control subjects included ASD children without SPAD (N = 39, normal controls (N = 37, and non-ASD children with SPAD (N = 12. Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs in responses to agonists of toll like receptors (TLR, stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23, TLR2/6 (IL-6, TLR4 (IL-12p40, and without stimuli (IL-1ß, IL-6, and TNF-α than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40 and candida antigen (Ag (IL-10, IL-12p40 were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  12. Isolated sulfite oxidase deficiency.

    Science.gov (United States)

    Rupar, C A; Gillett, J; Gordon, B A; Ramsay, D A; Johnson, J L; Garrett, R M; Rajagopalan, K V; Jung, J H; Bacheyie, G S; Sellers, A R

    1996-12-01

    Isolated sulfite oxidase (SO) deficiency is an autosomal recessively inherited inborn error of sulfur metabolism. In this report of a ninth patient the clinical history, laboratory results, neuropathological findings and a mutation in the sulfite oxidase gene are described. The data from this patient and previously published patients with isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are summarized to characterize this rare disorder. The patient presented neonatally with intractable seizures and did not progress developmentally beyond the neonatal stage. Dislocated lenses were apparent at 2 months. There was increased urine excretion of sulfite and S-sulfocysteine and a decreased concentration of plasma cystine. A lactic acidemia was present for 6 months. Liver sulfite oxidase activity was not detectable but xanthine dehydrogenase activity was normal. The boy died of respiratory failure at 32 months. Neuropathological findings of cortical necrosis and extensive cavitating leukoencephalopathy were reminiscent of those seen in severe perinatal asphyxia suggesting an etiology of energy deficiency. A point mutation that resulted in a truncated protein missing the molybdenum-binding site has been identified.

  13. Seasonal and temporal evolution of nutrient composition of pastures grown on remediated and non remediated soils affected by trace element contamination (Guadiamar Valley, SW Spain)

    Energy Technology Data Exchange (ETDEWEB)

    Madejon, P.; Dominguez, M. T.; Murillo, J. M.

    2010-07-01

    Elevated trace element concentrations in soils can affect the solubility and uptake of essential elements, resulting in nutrient deficiencies in plant tissues. The present paper deals with nutrient composition of pastures established on polluted and remediated soils (Green Corridor of the Guadiamar river Valley), in order to check the potential nutritional disorders that could derive from the soil pollution. In addition, nutrient composition of a representative grass, Cynodon dactylon, collected in 1999 and 2008 was compared in remediated and non-remediated sites of the polluted area. In general, nutrient concentrations of pastures were similar or even higher in polluted sites compared to control sites. Therefore, the estimated potential ingestion of main nutrients by horses (the most abundant animals in the area) was also greater in the polluted and remediated soils and covered their nutritional requirements (more than 300 (N), 70 (S), 35 (P), 400 (K), 175 (Ca) and 30 (Mg) mg kg{sup -}1 body weight day {sup -}1 in spring and autumn). Temporal evolution of nutrients and physiological ratios (N/S, Ca/P, K/Na, K/Ca+Mg) in C. dactylon showed a significant variation from 1999 to 2008, especially in the non-remediated area, leading to a recovery of the nutritional quality of this grass. The reasonable nutritional quality of pastures and the absence of negative interactions between nutrients and trace elements seem to indicate a stabilisation of soil pollutants in the affected area. (Author) 41 refs.

  14. Multiple nutritional deficiencies in cerebral palsy compounding physical and functional impairments

    Directory of Open Access Journals (Sweden)

    P G Hariprasad

    2017-01-01

    Full Text Available Introduction: Cerebral palsy (CP refers to a spectrum of disorders causing physical and intellectual morbidity. Macro and micro nutrient deficiencies often contribute to the subnormal physical and mental capabilities of them. Objectives: To assess the growth, nutritional status, physical and functional ability and quality of life in cerebral palsy children and to determine any relation with their gross motor and functional capabilities. Method: The study was conducted at a Tertiary Care Centre, with the participants in the age group 1-16 years. A pretested evaluation tool was prepared which included Anthropometric measurements, tests for hemoglobin and Vitamin D estimation, evidence of micronutrient deficiencies, Dietary patterns, Epidemiological factors, Functional assessment using GMFM (Gross Motor Function Measure and FIM (Functional Independent Measurement scales and Quality of life (QOL assessment. The data was statistically analyzed. Results: Out of the 41 children, 30 had quadriplegia, 3 had hemiplegia and 8 had spastic diplegia. 34 (82.9% were severely underweight, 35 (85.4% had severe stunting and 38 (92.7% had severe wasting. Micronutrient deficiencies were noted like vitamin B complex deficiency in 37 (90.2%, vitamin A deficiency in 31 (75.6%, low vitamin D levels in 27 (65.9% and insufficient levels in 9 (22%, severe anemia in 5 (12.2% and moderate anemia in 26 (63.4%.The gross motor and functional scores were suboptimum in the majority of patients and the care givers had significant impairment in the quality of life. Conclusion: Majority of children with cerebral palsy had multiple nutritional deficiencies, gross motor and functional disabilities. QOL of the children and their care givers were suboptimum. A comprehensive package that address dietary intake, correction of micronutrient deficiencies especially anemia and vitamin D deficiency, physical and emotional support is recommended for the wellbeing of the affected children.

  15. Genetics Home Reference: common variable immune deficiency

    Science.gov (United States)

    ... disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in cell fragments involved ... antibodies makes it difficult for people with this disorder to fight off infections. Abnormal and deficient immune responses over time likely contribute ...

  16. Nutrient cycling strategies.

    NARCIS (Netherlands)

    Breemen, van N.

    1995-01-01

    This paper briefly reviews pathways by which plants can influence the nutrient cycle, and thereby the nutrient supply of themselves and of their competitors. Higher or lower internal nutrient use efficiency positively feeds back into the nutrient cycle, and helps to increase or decrease soil

  17. Exponential Nutrient Loading as a Means to Optimize Bareroot Nursery Fertility of Oak Species

    Science.gov (United States)

    Zonda K. D. Birge; Douglass F. Jacobs; Francis K. Salifu

    2006-01-01

    Conventional fertilization in nursery culture of hardwoods may involve supply of equal fertilizer doses at regularly spaced intervals during the growing season, which may create a surplus of available nutrients in the beginning and a deficiency in nutrient availability by the end of the growing season. A method of fertilization termed “exponential nutrient loading” has...

  18. Influência do manejo do solo na conservação, qualidade sensorial, teor de nutrientes e incidência de fitopatias e fisiopatias pós-colheita de pêssegos cv. Cerrito Soil management effects in respect to conservation and sensorial quality, nutrients levels and incidence of rot and physiological disorders of peaches in post harvest

    Directory of Open Access Journals (Sweden)

    CARLOS ROBERTO MARTINS

    2002-08-01

    Full Text Available Estudou-se o efeito do manejo do solo mantido com cobertura vegetal, na linha de plantio, na qualidade pós-colheita de pêssegos cv. Cerrito durante o armazenamento refrigerado. Os tratamentos constaram de frutas colhidas em pomares com solo com cobertura vegetal (aveia e com cultivo tradicional (sem cobertura, em três estádios de maturação. O armazenamento foi feito em câmara fria a 0ºC e umidade relativa do ar acima de 90%. As avaliações da presença de fisiopatias e fitopatias, análise sensorial e análise de nutrientes foram feitas na colheita e após 6; 12 e 18 dias de armazenamento, mais três dias de simulação de comercialização. A análise sensorial demonstrou que as frutas colhidas em pomares com manejo do solo com cobertura vegetal apresentaram aparência, aroma, qualidade e sabor ao final do período de armazenamento superior às frutas de cultivo tradicional. Os atributos aceitação comercial e desidratação não apresentaram diferenças significativas. A coloração demonstrou ser superior em pêssegos provenientes de pomar com manejo do solo tradicional. A análise de nutrientes demonstrou maior conteúdo de N, Ca e B em frutas provenientes de pomar com manejo do solo com cobertura vegetal.The effect of soil management, with mulching on the planting line on the quality of post harvest of peaches, cv. Cerrito, during cold storage was studied. The treatments were consisted by fruits harvested on orchards with mulching (oat and without mulching (traditional cultivation on three stages of maturation. The storage was performed at temperature 0º C and above 90% of air humidity. The presence of physiological disorders and rot evaluations, sensorial analysis and analysis of nutrients were performed at harvest and after 6, 12 and 18 days of storage, plus three days of commercialization simulation. The sensorial analysis showed that the fruits harvested on orchard management soil with mulching presented, on the final of

  19. Growth hormone deficiency and hyperthermia during exercise

    DEFF Research Database (Denmark)

    Juul, A; Hjortskov, N; Jepsen, Leif

    1995-01-01

    Sweat secretion is often disturbed in patients with GH secretory disorders. Hyperhidrosis is a classic feature of acromegaly, and it has recently been shown that GH-deficient patients exhibit decreased sweating capacity after pilocarpine stimulation of the skin. Thus, patients with GH-deficiency ...

  20. Vitamin K deficiency bleeding of the newborn

    Science.gov (United States)

    Vitamin K deficiency bleeding of the newborn (VKDB) is a bleeding disorder in babies. It most often ... A lack of vitamin K may cause severe bleeding in newborn babies. Vitamin K plays an important role in blood clotting. Babies often ...

  1. Genetics Home Reference: GABA-transaminase deficiency

    Science.gov (United States)

    ... Description GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy. Babies with this disorder ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

  3. Iron deficiency

    DEFF Research Database (Denmark)

    Schou, Morten; Bosselmann, Helle; Gaborit, Freja

    2015-01-01

    BACKGROUND: Both iron deficiency (ID) and cardiovascular biomarkers are associated with a poor outcome in heart failure (HF). The relationship between different cardiovascular biomarkers and ID is unknown, and the true prevalence of ID in an outpatient HF clinic is probably overlooked. OBJECTIVES.......043). CONCLUSION: ID is frequent in an outpatient HF clinic. ID is not associated with cardiovascular biomarkers after adjustment for traditional confounders. Inflammation, but not neurohormonal activation is associated with ID in systolic HF. Further studies are needed to understand iron metabolism in elderly HF...

  4. Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13

    NARCIS (Netherlands)

    Shimozawa, N.; Suzuki, Y.; Zhang, Z.; Imamura, A.; Tsukamoto, T.; Osumi, T.; Tateishi, K.; Okumoto, K.; Fujiki, Y.; Orii, T.; Barth, P. G.; Wanders, R. J.; Kondo, N.

    1998-01-01

    Ten complementation groups of generalized peroxisome biogenesis disorders (PBD), (excluding rhizomelic chondrodysplasia punctata) have been identified using complementation analysis. Four of the genes involved have been identified using two different methods of (1) genetic functional complementation

  5. Soluble organic nutrient fluxes

    Science.gov (United States)

    Robert G. Qualls; Bruce L. Haines; Wayne Swank

    2014-01-01

    Our objectives in this study were (i) compare fluxes of the dissolved organic nutrients dissolved organic carbon (DOC), DON, and dissolved organic phosphorus (DOP) in a clearcut area and an adjacent mature reference area. (ii) determine whether concentrations of dissolved organic nutrients or inorganic nutrients were greater in clearcut areas than in reference areas,...

  6. Nutrient Status of Adults with Cystic Fibrosis

    Science.gov (United States)

    GORDON, CATHERINE M.; ANDERSON, ELLEN J.; HERLYN, KAREN; HUBBARD, JANE L.; PIZZO, ANGELA; GELBARD, RONDI; LAPEY, ALLEN; MERKEL, PETER A.

    2011-01-01

    Nutrition is thought to influence disease status in patients with cystic fibrosis (CF). This cross-sectional study sought to evaluate nutrient intake and anthropometric data from 64 adult outpatients with cystic fibrosis. Nutrient intake from food and supplements was compared with the Dietary Reference Intakes for 16 nutrients and outcomes influenced by nutritional status. Attention was given to vitamin D and calcium given potential skeletal implications due to cystic fibrosis. Measurements included weight, height, body composition, pulmonary function, and serum metabolic parameters. Participants were interviewed about dietary intake, supplement use, pulmonary function, sunlight exposure, and pain. The participants’ mean body mass index (±standard deviation) was 21.8±4.9 and pulmonary function tests were normal. Seventy-eight percent used pancreatic enzyme replacement for malabsorption. Vitamin D deficiency [25-hydroxyvitamin D (25OHD)<37.5 nmol/L] was common: 25 (39%) were deficient despite adequate vitamin D intake. Lipid profiles were normal in the majority, even though total and saturated fat consumption represented 33.0% and 16.8% of energy intake, respectively. Reported protein intake represented 16.9% of total energy intake (range 10%–25%). For several nutrients, including vitamin D and calcium, intake from food and supplements in many participants exceeded recommended Tolerable Upper Intake Levels. Among adults with cystic fibrosis, vitamin D deficiency was common despite reported adequate intake, and lipid profiles were normal despite a relatively high fat intake. Mean protein consumption was adequate, but the range of intake was concerning, as both inadequate or excessive intake may have deleterious skeletal effects. These findings call into question the applicability of established nutrient thresholds for patients with cystic fibrosis. PMID:18060897

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

  8. Iron-Deficiency Anemia

    Science.gov (United States)

    ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

  9. Genetics Home Reference: ornithine transcarbamylase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Baby's First Test GeneReview: Ornithine Transcarbamylase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  10. The importance of nutrition in aiding recovery from substance use disorders: A review.

    Science.gov (United States)

    Jeynes, Kendall D; Gibson, E Leigh

    2017-10-01

    Nutrition is a prerequisite for health; yet, there is no special nutritional assessment or guidance for drug and alcohol dependent individuals, despite the fact that their food consumption is often very limited, risking malnutrition. Further, the premise is examined that malnutrition may promote drug seeking and impede recovery from substance use disorders (SUD). A narrative review addressed the relationship between substance use disorders and nutrition, including evidence for malnutrition, as well as their impact on metabolism and appetite regulation. The implications of the biopsychology of addiction and appetite for understanding the role of nutrition in SUD were also considered. The literature overwhelmingly finds that subjects with alcohol use disorder (AUD) and drug use disorder (DUD) typically suffer from nutrient deficiencies. These nutrient deficiencies may be complicit in the alcoholic myopathy, osteopenia and osteoporosis, and mood disorders including anxiety and depression, observed in AUD and DUD. These same individuals have also been found to have altered body composition and altered hormonal metabolic regulators. Additionally, brain processes fundamental for survival are stimulated both by food, particularly sweet foods, and by substances of abuse, with evidence supporting confusion (addiction transfer) when recovering from SUD between cravings for a substance and craving for food. Poor nutritional status in AUD and DUD severely impacts their physical and psychological health, which may impede their ability to resist substances of abuse and recover their health. This review contributes to a better understanding of interventions that could best support individuals with substance use disorders. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... you are diagnosed with iron-deficiency anemia. Risk Factors You may have an increased risk for iron- ... iron-deficiency anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... to moderate iron-deficiency anemia, or red blood cell transfusion for severe iron-deficiency anemia. You may ... body needs iron to make healthy red blood cells. Iron-deficiency anemia usually develops over time because ...

  13. Vitamin Deficiency Anemia

    Science.gov (United States)

    ... are unique to specific vitamin deficiencies. Folate-deficiency anemia risk factors include: Undergoing hemodialysis for kidney failure. ... the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack of intrinsic factor. Most ...

  14. LACTASE DEFICIENCY IN BABIES AND INFANTS

    Directory of Open Access Journals (Sweden)

    E.A. Kornienko

    2006-01-01

    Full Text Available Lactose, the constituent disaccharide of milk and other dairy products, is an important nutrient in early childhood. Lactase breaks down lactose in small intestine. In most people the activity of lactase reduces with age. In infancy lactase deficiency tends to be either transient, which is more often, or secondary to intestinal diseases. Abdominal cramps, anxiety and dyspepsia are the common symptoms of lactase deficiency. Tactics of treatment should take into account a cause and severity of the condition. A specialized milk formula «enfamil lactofree», distinguished for its' optimal formulation, high clinical effectiveness and good tolerance, could be recommended for use in children with primary, transient and secondary lactase deficiency who receive formula and mixed feeding.Key words: lactose, lactase deficiency, lactose-free formula.

  15. Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

    NARCIS (Netherlands)

    Klouwer, Femke C. C.; Huffnagel, Irene C.; Ferdinandusse, Sacha; Waterham, Hans R.; Wanders, Ronald J. A.; Engelen, Marc; Poll-The, Bwee Tien

    2016-01-01

    Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders,

  16. Pituitary disorders and their extra-pituitary implications : observations in patients with nonfunctioning pituitary macroadenoma and the IGSF1 deficiency syndrome

    NARCIS (Netherlands)

    Joustra, S.D.

    2016-01-01

    In this thesis, we explored pituitary functioning and extra-pituitary implications of two pituitary disorders in humans. In part A, we focused on the long-term consequences of the diagnosis and treatment of nonfunctioning pituitary macroadenoma (NFMA) on hypothalamic regulation of circadian

  17. Dopamine beta-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Senard Jean-Michel

    2006-03-01

    Full Text Available Abstract Dopamine beta-hydroxylase (DβH deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DβH deficiency is unknown. Only a limited number of cases with this disease have been reported. DβH deficiency is mainly characterized by cardiovascular disorders and severe orthostatic hypotension. First symptoms often start during a complicated perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycemia. Children with DβH deficiency exhibit reduced ability to exercise because of blood pressure inadaptation with exertion and syncope. Symptoms usually worsen progressively during late adolescence and early adulthood with severe orthostatic hypotension, eyelid ptosis, nasal stuffiness and sexual disorders. Limitation in standing tolerance, limited ability to exercise and traumatic morbidity related to falls and syncope may represent later evolution. The syndrome is caused by heterogeneous molecular alterations of the DBH gene and is inherited in an autosomal recessive manner. Restoration of plasma noradrenaline to the normal range can be achieved by therapy with the synthetic precursor of noradrenaline, L-threo-dihydroxyphenylserine (DOPS. Oral administration of 100 to 500 mg DOPS, twice or three times daily, increases blood pressure and reverses the orthostatic intolerance.

  18. Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

    Directory of Open Access Journals (Sweden)

    Breitling Rainer

    2004-03-01

    Full Text Available Abstract Background Zellweger syndrome (ZS is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is known in considerable detail, it is unclear how peroxisome deficiency leads to the most severe neurological symptoms. Recent analysis of ZS mouse models has all but invalidated previous hypotheses. Hypothesis We suggest that a regulatory rather than a metabolic defect is responsible for the drastic impairment of brain function in ZS patients. Testing the hypothesis Using microarray analysis we identify diazepam binding inhibitor/acyl-CoA binding protein (DBI as a candidate protein that might be involved in the pathogenic mechanism of ZS. DBI has a dual role as a neuropeptide antagonist of GABA(A receptor signaling in the brain and as a regulator of lipid metabolism. Repression of DBI in ZS patients could result in an overactivation of GABAergic signaling, thus eventually leading to the characteristic hypotonia and seizures. The most important argument for a misregulation of GABA(A in ZS is, however, provided by the striking similarity between ZS and "benzodiazepine embryofetopathy", a malformation syndrome observed after the abuse of GABA(A agonists during pregnancy. Implications of the hypothesis We present a tentative mechanistic model of the effect of DBI misregulation on neuronal function that could explain some of the aspects of the pathology of Zellweger syndrome.

  19. In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency.

    Science.gov (United States)

    Bogusiewicz, Anna; Boysen, Gunnar; Mock, Donald M

    2015-01-01

    A large number of birth defects are related to nutrient deficiencies; concern that biotin deficiency is teratogenic in humans is reasonable. Surprisingly, studies indicate that increased urinary 3-hydroxyisovalerylcarnitine (3HIAc), a previously validated marker of biotin deficiency, is not a valid biomarker in pregnancy. In this study we hypothesized that coexisting carnitine deficiency can prevent the increase in 3HIAc due to biotin deficiency. We used a 2-factor nutrient depletion design to induce isolated and combined biotin and carnitine deficiency in HepG2 cells and then repleted cells with carnitine. To elucidate the metabolic pathogenesis, we quantitated intracellular and extracellular free carnitine, acylcarnitines, and acylcarnitine ratios using liquid chromatography-tandem mass spectrometry. Relative to biotin-sufficient, carnitine-sufficient cells, intracellular acetylcarnitine increased by 90%, propionylcarnitine more than doubled, and 3HIAc increased by >10-fold in biotin-deficient, carnitine-sufficient (BDCS) cells, consistent with a defensive mechanism in which biotin-deficient cells transesterify the acyl-coenzyme A (acyl-CoA) substrates of the biotin-dependent carboxylases to the related acylcarnitines. Likewise, in BDCS cells, the ratio of acetylcarnitine to malonylcarnitine and the ratio of propionylcarnitine to methylmalonylcarnitine both more than tripled, and the ratio of 3HIAc to 3-methylglutarylcarnitine (MGc) increased by >10-fold. In biotin-deficient, carnitine-deficient (BDCD) cells, the 3 substrate-derived acylcarnitines changed little, but the substrate:product ratios were masked to a lesser extent. Moreover, carnitine repletion unmasked biotin deficiency in BDCD cells as shown by increases in acetylcarnitine, propionylcarnitine, and 3HIAc (each increased by >50-fold). Likewise, ratios of acetylcarnitine:malonylcarnitine, propionylcarnitine:methylmalonylcarnitine, and 3HIAc:MGc all increased by >8-fold. Our findings provide strong

  20. Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings

    NARCIS (Netherlands)

    Chen, Bee Chin; Mohd Rawi, Rowani; Meinsma, Rutger; Meijer, Judith; Hennekam, Raoul C. M.; van Kuilenburg, André B. P.

    2014-01-01

    Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency anemia is a ... address the cause of your iron deficiency, such as any underlying bleeding. If undiagnosed or untreated, iron- ...

  2. Nutrient status and plant growth effects of forest soils in the Basin of Mexico

    Science.gov (United States)

    Mark E. Fenn; V.M. Perea-Estrada; L.I. de Bauer; M. Pérez-Suárez; D.R. Parker; V.M. Cetina-Alcalá

    2006-01-01

    The nutrient status of forest soils in the Mexico City Air Basin was evaluated by observing plant growth responses to fertilization with N, P or both nutrients combined. P deficiency was the most frequent condition for soil from two high pollution sites and N deficiency was greatest at a low N deposition site. Concentrations of Pb and Ni, and to a lesser extent Zn and...

  3. Japanese family with congenital factor VII deficiency.

    Science.gov (United States)

    Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

    2015-10-01

    Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

  4. New Ways to Determine Plant Nutrient Deficiences Using Fast Spectroscopy

    DEFF Research Database (Denmark)

    van Maarschalkerweerd, Marie

    In a global perspective, the agricultural sector is right now facing its biggest challenge ever. The world population is rapidly increasing, and food production has to grow at the same, or higher, speed to be able to feed everyone. At the same time, the effect on environmental and natural resources...... must be limited. Over-fertilization must be stopped to secure aquatic environments and to reduce greenhouse gas emissions, caused by production and use of inorganic fertilizers. For production of P fertilizer, furthermore a non-renewable natural resource is used, which is expected to be exhausted...... for soil and plant analysis are described and the usability of each technique is discussed. Focus is put particularly on the newest methods for plant analysis based on fast spectroscopy, such as visual and near-infrared (Vis-NIR) reflectance and chlorophyll a fluorescence. These methods enable easy, fast...

  5. Syndromes associated with nutritional deficiency and excess.

    Science.gov (United States)

    Jen, Melinda; Yan, Albert C

    2010-01-01

    Normal functioning of the human body requires a balance between nutritional intake and metabolism, and imbalances manifest as nutritional deficiencies or excess. Nutritional deficiency states are associated with social factors (war, poverty, famine, and food fads), medical illnesses with malabsorption (such as Crohn disease, cystic fibrosis, and after bariatric surgery), psychiatric illnesses (eating disorders, autism, alcoholism), and medications. Nutritional excess states result from inadvertent or intentional excessive intake. Cutaneous manifestations of nutritional imbalance can herald other systemic manifestations. This contribution discusses nutritional deficiency and excess syndromes with cutaneous manifestations of particular interest to clinical dermatologists. Copyright © 2010. Published by Elsevier Inc.

  6. Essential nutrient requirements of the elderly

    Directory of Open Access Journals (Sweden)

    Skully R

    2014-06-01

    Full Text Available Robert Skully Department of Family Medicine, Grant Medical Center, OhioHealth, Columbus, OH, USA Abstract: Government-sponsored medical organizations in developed countries have established guidelines for daily nutritional requirements. For most nutrients there is general agreement surrounding these requirements, which are based on exhaustive scientific literature review. Differences in these recommendations exist because of genetic and environmental factors that result in differences in disease susceptibility, but also due to incomplete understanding of the roles of nutrients in disease prevention. This review briefly summarizes nutrient recommendations for older adults such as where those recommendations differ from those of younger adults; and includes areas of developing understanding such as the possible role of thiamine deficiency in patients with congestive heart failure, the need for some older adults to ingest absorbable forms of vitamin B12, the high prevalence of vitamin D deficiency, the potential role of vitamin K in bone health, the need for higher levels of protein intake in order to stimulate muscle protein synthesis as one ages, the role of calcium in osteoporosis, and the possible need for zinc supplementation in hospitalized patients. Keywords: vitamins, nutritional requirements, energy expenditure, energy consumption

  7. Data analysis of surveillance results of iodine deficiency disorders in Guangdong Province in 2011%2011年广东省碘缺乏病监测结果分析

    Institute of Scientific and Technical Information of China (English)

    钟文; 刘礼平; 杨通; 林立丰; 池海珊; 张姗花

    2013-01-01

    Objective To assess the effectiveness of prevention program on iodine deficiency disorders and iodine nutritional status of residents in Guangdong Province.Methods Probability proportionate to size sampling(PPS) was employed in surveillance of iodine deficiency disorders.Thirty counties(cities,districts) were selected in Guangdong Province.In each county(city,district) one township(street) was selected; in each township (street) one primary school was selected and in each primary school 40 children aged 8-10 were chosen to examine their thyroid and to collect salt samples at their home for determination of salt iodine.Out of the 40 children,12 children were chosen to collect urine samples for determination of urinary iodine.From the primary schools chosen,40 grade 5 students were selected for intelligence quotient(IQ) test.In the nearby of the primary schools,3 townships(towns,street) were selected and in each township(town,street) 5 pregnant and 5 lactating women were selected to collect their urine samples for determination of urinary iodine.Type-B ultrasonic was used in measuring the thyroid volume.The iodine content of urine samples was measured by the method of arsenic and cerium catalysis spectrophotometry.The iodine content of salt was determined quantitatively with the titration method.IQ was tested by Chinese combined Raven's test.According to geographical location and the implementation of iodized salt,the effects of iodized salt on iodine deficiency disorders were analyzed in the plains and the Pearl River Delta Coastal region with mild iodine deficiency(iodized salt implementation region,referred to as the plains and the PRD),historical iodine deficiency areas (iodized implementation region) and the eastern and the western coastal areas of Guangdong(areas with non-iodized salt problem,referred to as the eastern and the western Guangdong).Results A total of 1200 children aged 8 to 10 were examined by type-B ultrasonic test,and goiter rate was 3.5% (42

  8. Nutrient sensing and TOR signaling in yeast and mammals.

    Science.gov (United States)

    González, Asier; Hall, Michael N

    2017-02-15

    Coordinating cell growth with nutrient availability is critical for cell survival. The evolutionarily conserved TOR (target of rapamycin) controls cell growth in response to nutrients, in particular amino acids. As a central controller of cell growth, mTOR (mammalian TOR) is implicated in several disorders, including cancer, obesity, and diabetes. Here, we review how nutrient availability is sensed and transduced to TOR in budding yeast and mammals. A better understanding of how nutrient availability is transduced to TOR may allow novel strategies in the treatment for mTOR-related diseases. © 2017 The Authors.

  9. Bleeding Disorders Treatment Options

    Science.gov (United States)

    ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ...

  10. Growth and nutrient uptake of maize plants as affected by elemental ...

    African Journals Online (AJOL)

    Jane

    2011-10-05

    Oct 5, 2011 ... and Cu, thus characterized as deficient in these micro nutrients. Nitrogen, phosphorus (P) and ... play an important role in the protection of plants against nutrient stress and pests and synthesis of vitamins ..... Brassica oleracea is controlled by the expression and the activity of sulphate transporter. Plant Biol.

  11. Genetics Home Reference: myopathy with deficiency of iron-sulfur cluster assembly enzyme

    Science.gov (United States)

    ... Myopathy with deficiency of iron-sulfur cluster assembly enzyme Printable PDF Open All Close All Enable Javascript ... Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles ...

  12. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

    NARCIS (Netherlands)

    Vaz, F. M.; Scholte, H. R.; Ruiter, J.; Hussaarts-Odijk, L. M.; Pereira, R. R.; Schweitzer, S.; de Klerk, J. B.; Waterham, H. R.; Wanders, R. J.

    1999-01-01

    Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia, hyperammonemia, and failure to thrive. This form of carnitine deficiency is caused by a defect in the active cellular uptake

  13. Effects of sulfur and nitrogen on nutrients uptake of corn using ...

    African Journals Online (AJOL)

    Jane

    2011-08-08

    Aug 8, 2011 ... Sulfur uptake efficiency increases, and the deficiency symptom disappears, upon application of N fertilizer in the form of urea in S deficient soil (Murphy, 1999). Sulfur is considered one of the major essential plant nutrients and an amendment used for reclaiming alkaline and calcareous soils (Marschner ...

  14. [Osteomalacia and vitamin D deficiency].

    Science.gov (United States)

    Rader, C P; Corsten, N; Rolf, O

    2015-09-01

    Vitamin D and calcium deficiency has a higher incidence in the orthopedic-trauma surgery patient population than generally supposed. In the long term this can result in osteomalacia, a form of altered bone mineralization in adults, in which the cartilaginous, non-calcified osteoid does not mature to hard bone. The current value of vitamin D and its importance for bones and other body cells are demonstrated. The causes of vitamin D deficiency are insufficient sunlight exposure, a lack of vitamin D3 and calcium, malabsorption, and rare alterations of VDR signaling and phosphate metabolism. The main symptoms are bone pain, fatigue fractures, muscular cramps, muscle pain, and gait disorders, with an increased incidence of falls in the elderly. Osteopathies induced by pharmaceuticals, tumors, rheumatism or osteoporosis have to be considered as the main differential diagnoses. In addition to the recording of symptoms and medical imaging, the diagnosis of osteomalacia should be ensured by laboratory parameters. Adequate treatment consists of the high-dose intake of vitamin D3 and the replacement of phosphate if deficient. Vitamin D is one of the important hormone-like vitamins and is required in all human cells. Deficiency of vitamin D has far-reaching consequences not only for bone, but also for other organ systems.

  15. Metabolic disorders and nutritional status in autoimmune thyroid diseases

    Directory of Open Access Journals (Sweden)

    Anna Kawicka

    2015-01-01

    Full Text Available In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs are caused by an abnormal immune response to autoantigens present in the thyroid gland – they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto’s disease. Hashimoto’s thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones’ activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient’s body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1 and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium. Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the

  16. [Metabolic disorders and nutritional status in autoimmune thyroid diseases].

    Science.gov (United States)

    Kawicka, Anna; Regulska-Ilow, Bożena; Regulska-Ilow, Bożena

    2015-01-02

    In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs) are caused by an abnormal immune response to autoantigens present in the thyroid gland - they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto's disease. Hashimoto's thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones' activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD) also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient's body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1) and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium). Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the relationship of metabolic

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... fatigue or tiredness, shortness of breath, or chest pain. If your doctor diagnoses you with iron-deficiency ... Common symptoms of iron-deficiency anemia include: Chest pain Coldness in the hands and feet Difficulty concentrating ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... heart failure . Increased risk of infections Motor or cognitive development delays in children Pregnancy complications, such as ... for iron-deficiency anemia. Learn about exciting research areas that NHLBI is exploring about iron-deficiency anemia. ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this Health ... lead to iron-deficiency anemia include: End-stage kidney failure, where there is blood loss during dialysis. ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this Health ... to iron-deficiency anemia include: End-stage kidney failure, where there is blood loss during dialysis. People ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... view the colon directly. What if my doctor thinks something else is causing my iron-deficiency anemia? ... deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... mg and women need 18 mg. After age 51, both men and women need 8 mg. Pregnant ... for iron-deficiency anemia. Learn about exciting research areas that NHLBI is exploring about iron-deficiency anemia. ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia. These conditions include: Intestinal and digestive conditions, such as celiac disease; inflammatory bowel diseases, ... iron-deficiency anemia , such as bleeding in the digestive or urinary tract or heavy menstrual bleeding, your ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ... the size of your liver and spleen. Blood tests Based on results from blood tests to screen ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... from developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, eggs, lean red meat, ... signs of iron-deficiency anemia include: Brittle nails ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ...

  8. Fire Safety Deficiencies

    Data.gov (United States)

    U.S. Department of Health & Human Services — A list of all fire safety deficiencies currently listed on Nursing Home Compare, including the nursing home that received the deficiency, the associated inspection...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... learning how having iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ... Cells From Iron-deficient Donors: Recovery and Storage Quality. Learn more about participating in a clinical trial . ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... leaving cells where it is stored or from being absorbed in the duodenum, the first part of ... treatments for iron-deficiency anemia. Living With After being diagnosed with iron-deficiency anemia, it is important ...

  12. DNA repair deficiency in neurodegeneration

    DEFF Research Database (Denmark)

    Jeppesen, Dennis Kjølhede; Bohr, Vilhelm A; Stevnsner, Tinna V.

    2011-01-01

    Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic neurons are particularly prone to accumulation of unrepaired DNA lesions potentially leading to progressive...... neurodegeneration. Nucleotide excision repair is the cellular pathway responsible for removing helix-distorting DNA damage and deficiency in such repair is found in a number of diseases with neurodegenerative phenotypes, including Xeroderma Pigmentosum and Cockayne syndrome. The main pathway for repairing oxidative...... base lesions is base excision repair, and such repair is crucial for neurons given their high rates of oxygen metabolism. Mismatch repair corrects base mispairs generated during replication and evidence indicates that oxidative DNA damage can cause this pathway to expand trinucleotide repeats, thereby...

  13. Nutrient availability at Mer Bleue bog measured by PRSTM probes

    Science.gov (United States)

    Wang, M.; Moore, T. R.; Talbot, J.

    2015-12-01

    Bogs, covering ~0.7 million km2 in Canada, store a large amount of C and N. As nutrient deficient ecosystems, it's critical to examine the nutrient availabilities and seasonal dynamics. We used Plant Root Simulators (PRSTM) at Mer Bleue bog to provide some baseline data on nutrient availability and its variability. In particular, we focused on ammonium, nitrate, phosphate, calcium, magnesium and potassium, iron, sulphate and aluminum. We placed PRS probes at a depth of 5 - 15 cm in pristine plots and plots with long term N, P and K fertilization for 4 weeks and determined the availability of these nutrients, from spring through to fall. Probes were also placed beneath the water table in hummock and hollow microtopography and along a transect including part of the bog which had been drained through the creation of a ditch 80 years ago. The result showed that there was limited available ammonium, nitrate and phosphate in the bog, the seasonal variation of nutrient availabilities probably due to mineralization, an increase in the availability of some nutrients between different water table depths or as a result of drainage, and the relative availability of nutrients compared to the input from fertilization. We suggest that PRS probes could be a useful tool to examine nutrient availability and dynamics in wetlands, with careful consideration of installing condition, for example, proper exposure period, depth relative to water table etc.

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... if you are diagnosed with iron-deficiency anemia. Risk Factors You may have an increased risk for iron-deficiency anemia because of your age, ... or sex. Age You may be at increased risk for iron deficiency at certain ages: Infants between ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español ... bleeding Consuming less than recommended daily amounts of iron Iron-deficiency anemia can be caused by getting ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Topics News & Resources Intramural Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer ... and symptoms as well as complications from iron-deficiency anemia. Research for Your Health The NHLBI is part of the U.S. Department ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... anemia, your doctor may order the following blood tests to diagnose iron-deficiency anemia: Complete blood count (CBC) to ... than normal when viewed under a microscope. Different tests help your doctor diagnose iron-deficiency anemia. In iron-deficiency anemia, blood ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... for iron-deficiency anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. ...

  19. [Effects nutrients on the seedlings root hair development and root growth of Poncirus trifoliata under hydroponics condition].

    Science.gov (United States)

    Cao, Xiu; Xia, Ren-Xue; Zhang, De-Jian; Shu, Bo

    2013-06-01

    Ahydroponics experiment was conducted to study the effects of nutrients (N, P, K, Ca, Mg, Fe, and Mn) deficiency on the length of primary root, the number of lateral roots, and the root hair density, length, and diameter on the primary root and lateral roots of Poncirus trifoliata seedlings. Under the deficiency of each test nutrient, root hair could generate, but was mainly concentrated on the root base and fewer on the root tip. The root hair density on lateral roots was significantly larger than that on primary root, but the root hair length was in adverse. The deficiency of each test nutrient had greater effects on the growth and development of root hairs, with the root hair density on primary root varied from 55.0 to 174.3 mm(-2). As compared with the control, Ca deficiency induced the significant increase of root hair density and length on primary root, P deficiency promoted the root hair density and length on the base and middle part of primary root and on the lateral roots significantly, Fe deficiency increased the root hair density but decreased the root hair length on the tip of primary root significantly, K deficiency significantly decreased the root hair density, length, and diameter on primary root and lateral roots, whereas Mg deficiency increased the root hair length of primary root significantly. In all treatments of nutrient deficiency, the primary root had the similar growth rate, but, with the exceptions of N and Mg deficiency, the lateral roots exhibited shedding and regeneration.

  20. Single Nutrients and Immunity

    Science.gov (United States)

    1982-02-01

    leukocytosis purpura Drug therapy: corticosteroids cytotoxic drugs other immunosuppressive drugs contraceptive drugs Pregnancy Maleness Aging Scurvy...Muindi JM, Swai GBR. Infections 211. Kos WL, Loria RM, Snodgrass MJ. et al. Inhibition in iron deficiency and other types of anaemia in the of host...hemopoietic tissue. Blood deficiency anaemia . J Clin Pathol 1974:27:973-9. 1970;36:32 1-9. 244. Bhaskaram C, Siva Prasad J, Krishnamachari 264

  1. Down syndrome--genetic and nutritional aspects of accompanying disorders.

    Science.gov (United States)

    Mazurek, Dominika; Wyka, Joanna

    2015-01-01

    Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. It is caused by having a third copy of chromosome 21, and there exist 3 forms; Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. Symptoms include intellectual disability/mental retardation, early onset of Alzheimer's disease and the appearance of various phenotypic features such as narrow slanted eyes, flat nose and short stature. In addition, there are other health problems throughout the body, consisting in part of cardiac defects and thyroid function abnormalities along with nutritional disorders (ie. overweight, obesity, hypercholesterolemia and deficiencies of vitamins and minerals). Those suffering DS have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual development. Many studies indicate excessive or deficient nutrient uptakes associated with making inappropriate foodstuff choices, food intolerance, (eg. celiac disease) or malabsorption. DS persons with overweight or obesity are linked with a slow metabolic rate, abnormal blood leptin concentrations and exhibit low levels of physical activity. Vitamin B group deficiencies and abnormal blood homocysteine levels decrease the rate of intellectual development in DS cases. Zinc deficiencies result in short stature, thyroid function disorders and an increased appetite caused by excessive supplementation. Scientific advances in the research and diagnosis of DS, as well as preventing any associated conditions, have significantly increased life expectancies of those with this genetic disorder. Early dietary interventions by parents or guardians of DS children afford an opportunity for decreasing the risk or delaying some of the DS associated conditions from appearing, thus beneficially impacting on their quality of life.

  2. Nutritional disorders in chrysanthemums

    NARCIS (Netherlands)

    Roorda van Eysinga, J.P.N.L.; Smilde, K.W.

    1980-01-01

    This book is a guide to diagnosing nutritional disorders in chrysanthemums. Deficiencies and toxicities are included, fifteen in all. Colour plates and descriptions are given for nitrogen, phosphorus, potassium, magnesium, calcium, sulphur, boron, copper, manganese, iron and zinc deficiency and for

  3. Carnitine Deficiency and Pregnancy

    Directory of Open Access Journals (Sweden)

    Anouk de Bruyn

    2015-01-01

    Full Text Available We present two cases of carnitine deficiency in pregnancy. In our first case, systematic screening revealed L-carnitine deficiency in the first born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a deficiency as well. In a second case, a mother known with carnitine deficiency under supplementation was followed throughout her pregnancy. Both pregnancies had an uneventful outcome. Because carnitine deficiency can have serious complications, supplementation with carnitine is advised. This supplementation should be continued throughout pregnancy according to plasma concentrations.

  4. Nutrient synchrony in preruminant calves

    NARCIS (Netherlands)

    Borne, van den J.J.G.C.

    2006-01-01

    In animal nutrition, the nutrient composition of the daily feed supply is composed to match the nutrient requirements for the desired performance. The time of nutrient availability within a day is usually considered not to affect the fate of nutrients. The aim of this thesis was to evaluate effects

  5. Glucose-6-phosphate dehydrogenase deficiency; the single most ...

    African Journals Online (AJOL)

    Introduction: Glucose- 6-phosphate dehydrogenase deficiency is the most common enzymatic disorder of the red cell and an important risk factor for neonatal jaundice. Methodology: The aim of the study was to determine the incidence of G-6-PD deficiency among jaundiced neonates, and describe the associated morbidity ...

  6. Class switch recombination in selective IgA-deficient subjects

    DEFF Research Database (Denmark)

    Jensen, Lone Hummelshøj; Ryder, L P; Nielsen, L K

    2006-01-01

    Selective IgA deficiency is a common immunodeficiency in Caucasians, but the molecular basis of the disorder remains elusive. To address this issue we examined the molecular events leading to IgA production. Naive IgD positive B cells were purified from four donors with IgA deficiency and four...

  7. Soluble Transferrin Receptor - A Marker For Iron Deficiency; A Review

    African Journals Online (AJOL)

    Parameters for measuring iron deficiency have been established for decades and have served clinicians in the management of this nutritional disorder. The bone marrow still remains the gold standard in the final diagnosis of iron deficiency. However, researchers have been able to identify the dominating role of the ...

  8. Maternal vitamin D deficiency: a culprit for hypocalcaemia induced ...

    African Journals Online (AJOL)

    Background: A rare but reversible cause of dilated cardiomyopathy occurs in infants born to vitamin D deficient mothers due to hypocalcaemia. Case Report: We report a case of dilated cardiomyopathy due to hypocalcaemia secondary to maternal vitamin D deficiency in an infant presented with seizure disorder and heart ...

  9. A Rare Case of β-Ketothiolase Deficiency

    Directory of Open Access Journals (Sweden)

    B. Modh

    2015-06-01

    Full Text Available We are reporting a case of β-ketothiolase deficiency, a rare disorder of amino acid metabolism. A 10 month old child presented with complaints of vomiting, convulsions, fever and altered sensorium that on investigations showed metabolic acidosis, hyperammonemia and ketosis. Gas chromatography/ mass spectroscopic examination was suggestive of β-ketothiolase deficiency.

  10. Vitamin D deficiency and heart disease

    NARCIS (Netherlands)

    Pilz, Stefan; Tomaschitz, Andreas; Drechsler, Christiane; de Boer, Rudolf A.

    Vitamin D deficiency is present in the vast majority of patients with chronic kidney disease (CKD), and correcting a poor vitamin D status is recommended as a treatment of CKD-mineral and bone disorders. In this review, we summarize the molecular and clinical data on the role of vitamin D status for

  11. Genetics Home Reference: purine nucleoside phosphorylase deficiency

    Science.gov (United States)

    ... the expand/collapse boxes. Description Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and ...

  12. Autosomal dominant transmission of GLUT1 deficiency.

    NARCIS (Netherlands)

    Klepper, J.; Willemsen, M.A.A.P.; Verrips, A.; Guertsen, E.; Herrmann, R.; Kutzick, C.; Florcken, A.; Voit, T.

    2001-01-01

    GLUT1 deficiency is caused by a defect in the facilitative glucose transporter GLUT1. Impaired glucose transport across brain tissue barriers is reflected by hypoglycorrhachia and results in an epileptic encephalopathy with developmental delay and motor disorders. Recently heterozygous mutations in

  13. Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

    DEFF Research Database (Denmark)

    Sahebekhtiari, Navid; Thomsen, Michelle M.; Sloth, Jens Jørgen

    2016-01-01

    Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes the severe metabolic disorder ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy and defective cytochrome C oxidase because of hydrogen sulfide accumulation. Although the severe systemic consequences of t...

  14. Skin morphological changes in growth hormone deficiency and acromegaly

    DEFF Research Database (Denmark)

    Lange, Merete Wolder; Thulesen, J; Feldt-Rasmussen, U

    2001-01-01

    To evaluate the histomorphology of skin and its appendages, especially eccrine sweat glands, in patients with GH disorders, because reduced sweating ability in patients with growth hormone deficiency (GHD) is associated with increased risk of hyperthermia under stressed conditions....

  15. New insights into iron deficiency and iron deficiency anemia.

    Science.gov (United States)

    Camaschella, Clara

    2017-07-01

    Recent advances in iron metabolism have stimulated new interest in iron deficiency (ID) and its anemia (IDA), common conditions worldwide. Absolute ID/IDA, i.e. the decrease of total body iron, is easily diagnosed based on decreased levels of serum ferritin and transferrin saturation. Relative lack of iron in specific organs/tissues, and IDA in the context of inflammatory disorders, are diagnosed based on arbitrary cut offs of ferritin and transferrin saturation and/or marker combination (as the soluble transferrin receptor/ferritin index) in an appropriate clinical context. Most ID patients are candidate to traditional treatment with oral iron salts, while high hepcidin levels block their absorption in inflammatory disorders. New iron preparations and new treatment modalities are available: high-dose intravenous iron compounds are becoming popular and indications to their use are increasing, although long-term side effects remain to be evaluated. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. Effects of nutrient omission in Caesalpinia echinata plants

    Directory of Open Access Journals (Sweden)

    Sergio Valiengo Valeri

    2014-03-01

    Full Text Available The objective of this study was to evaluate the growth, the morphological alterations and the mineral composition of brazilwood (Caesalpinia echinata plants caused by mineral nutrients omission in a green house experiment. The experimental units were distributed in the green house according to a completely random design. The treatments, each repeated five times, were the following : check (natural soil, complete (N, P, K, Ca, Mg, S, B, Cu, Mn, and Zn and a complete solution but for the omission of one of the nutrients in parenthesis. Each plot was represented by a plant growing in a 7 dm3 vase filled with Quartzarenic Neosol. The analyzed variables were the following: visual nutritional deficiency symptoms, plant height, stem diameter, shoot dry matter, stem, branches and leaves included, and leaf nutrients level. The omission of nitrogen limited plant growth in height and shoot biomass production. The first visual deficiency symptoms were those due to N omission followed by those caused by P, Ca, Mg, S, Cu, and Mn omissions. Later on the K and B deficiency symptoms became visible. The omission of a nutrient always caused its level in the leaves to be significantly lower than that found when it was not omitted.

  17. The subtropical nutrient spiral

    Science.gov (United States)

    Jenkins, William J.; Doney, Scott C.

    2003-12-01

    We present an extended series of observations and more comprehensive analysis of a tracer-based measure of new production in the Sargasso Sea near Bermuda using the 3He flux gauge technique. The estimated annually averaged nitrate flux of 0.84 ± 0.26 mol m-2 yr-1 constitutes only that nitrate physically transported to the euphotic zone, not nitrogen from biological sources (e.g., nitrogen fixation or zooplankton migration). We show that the flux estimate is quantitatively consistent with other observations, including decade timescale evolution of the 3H + 3He inventory in the main thermocline and export production estimates. However, we argue that the flux cannot be supplied in the long term by local diapycnal or isopycnal processes. These considerations lead us to propose a three-dimensional pathway whereby nutrients remineralized within the main thermocline are returned to the seasonally accessible layers within the subtropical gyre. We describe this mechanism, which we call "the nutrient spiral," as a sequence of steps where (1) nutrient-rich thermocline waters are entrained into the Gulf Stream, (2) enhanced diapycnal mixing moves nutrients upward onto lighter densities, (3) detrainment and enhanced isopycnal mixing injects these waters into the seasonally accessible layer of the gyre recirculation region, and (4) the nutrients become available to biota via eddy heaving and wintertime convection. The spiral is closed when nutrients are utilized, exported, and then remineralized within the thermocline. We present evidence regarding the characteristics of the spiral and discuss some implications of its operation within the biogeochemical cycle of the subtropical ocean.

  18. Nutrient flows in international trade: Ecology and policy issues

    International Nuclear Information System (INIS)

    Grote, Ulrike; Craswell, Eric; Vlek, Paul

    2005-01-01

    Impacts of increasing population pressure on food demand and land resources has sparked interest in nutrient balances and flows at a range of scales. West Asia/North Africa, China, and sub-Saharan Africa are net importers of NPK in agricultural commodities. These imported nutrients do not, however, redress the widely recognized declines in fertility in sub-Saharan African soils, because the nutrients imported are commonly concentrated in the cities, creating waste disposal problems rather than alleviating deficiencies in rural soils. Countries with a net loss of NPK in agricultural commodities are the major food exporting countries-the United States, Australia, and some Latin American countries. In the case of the United States, exports of NPK will increase from 3.1 Tg in 1997 to 4.8 Tg in 2020. The results suggest that between 1997 and 2020, total international net flows of NPK in traded agricultural commodities will double to 8.8 million tonnes. Against this background, the paper analyses the impact of different policy measures on nutrient flows and balances. This includes not only the effects of agricultural trade liberalization and the reduction of subsidies, but also the more direct environmental policies like nutrient accounting schemes, eco-labeling, and nutrient trading. It finally stresses the need for environmental costs to be factored into the debate on nutrient management and advocates more inter-disciplinary research on these important problems

  19. Late gestational nutrient restriction

    DEFF Research Database (Denmark)

    Tygesen, Malin Plumhoff; Nielsen, Mette Olaf; Nørgaard, Peder

    2008-01-01

    We investigated the effect of 50% nutrient restriction during the last 6 weeks of gestation on twin-pregnant ewes' plasma glucose, non-esterified fatty acid, ß-hydroxybutyrate, insulin, IGF-1 and leptin concentrations and the effects on lamb birth weight and ewes' lactation performance. Plasma...

  20. The role of tolerant genotypes and plant nutrients in the management of acid soil infertility in upland rice

    International Nuclear Information System (INIS)

    Sahrawat, K.L.; Jones, M.P.; Diatta, S.

    2000-01-01

    As in other parts of the humid tropics, acid-related problems are the major constraint to crop production on low-activity clay soils in the humid and sub-humid zones of West Africa. The upland ecosystem of West Africa is very important to rice production. About 70% of upland rice is grown in the humid zone of the sub-region. To increase and stabilize rice productivity of the acid uplands at reasonable levels, a strategy is needed that integrates the use of tolerant cultivars with soil and plant-nutrient management. Research conducted on Alfisols and Ultisols of the humid-forest and savannah zones in West Africa showed that upland rice is a robust crop, possessing a wide range of tolerance to acid-soil conditions. Recent research at WARDA showed also that acid-soil tolerance can be enhanced through interspecific Oryza sativa x O. glaberrima progenies, which not only possess increased tolerance of acid-soil conditions, but also have superior overall adaptability to diverse upland environments in the sub-region. Our research on the diagnosis of acid-soil infertility problems on the Ultisols and Alfisols of the humid savannah and forest zones indicates that P deficiency is the most important nutrient disorder for upland rice. In the forest zone, response to N depended on the application of P. In the savannah and forest-savannah transition zones, N deficiency was more important than P deficiency. Among other plant nutrients, the application of Ca and Mg (as plant nutrients) did not appear initially to improve the performance of acid-tolerant upland rice cultivars. The results from a long-term study on an Ultisol with four acid-tolerant rice cultivars, revealed that they differed in agronomic and physiological P efficiencies, and the efficiencies were higher at lower rates of P. The amounts of total P removed in three successive crops were similar for all four cultivars although P-harvest index was 10 to 12% higher in the P-efficient than the inefficient cultivars. The

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... increased need for iron during growth spurts. Older adults, especially those over age ... athletes. Athletes, especially young females, are at risk for iron deficiency. Endurance ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) programs. Our ... more information about Donor Iron Deficiency Study - Red Blood Cells ...

  3. In HepG2 Cells, Coexisting Carnitine Deficiency Masks Important Indicators of Marginal Biotin Deficiency123

    Science.gov (United States)

    Bogusiewicz, Anna; Boysen, Gunnar; Mock, Donald M

    2015-01-01

    Background: A large number of birth defects are related to nutrient deficiencies; concern that biotin deficiency is teratogenic in humans is reasonable. Surprisingly, studies indicate that increased urinary 3-hydroxyisovalerylcarnitine (3HIAc), a previously validated marker of biotin deficiency, is not a valid biomarker in pregnancy. Objective: In this study we hypothesized that coexisting carnitine deficiency can prevent the increase in 3HIAc due to biotin deficiency. Methods: We used a 2-factor nutrient depletion design to induce isolated and combined biotin and carnitine deficiency in HepG2 cells and then repleted cells with carnitine. To elucidate the metabolic pathogenesis, we quantitated intracellular and extracellular free carnitine, acylcarnitines, and acylcarnitine ratios using liquid chromatography–tandem mass spectrometry. Results: Relative to biotin-sufficient, carnitine-sufficient cells, intracellular acetylcarnitine increased by 90%, propionylcarnitine more than doubled, and 3HIAc increased by >10-fold in biotin-deficient, carnitine-sufficient (BDCS) cells, consistent with a defensive mechanism in which biotin-deficient cells transesterify the acyl-coenzyme A (acyl-CoA) substrates of the biotin-dependent carboxylases to the related acylcarnitines. Likewise, in BDCS cells, the ratio of acetylcarnitine to malonylcarnitine and the ratio of propionylcarnitine to methylmalonylcarnitine both more than tripled, and the ratio of 3HIAc to 3-methylglutarylcarnitine (MGc) increased by >10-fold. In biotin-deficient, carnitine-deficient (BDCD) cells, the 3 substrate-derived acylcarnitines changed little, but the substrate:product ratios were masked to a lesser extent. Moreover, carnitine repletion unmasked biotin deficiency in BDCD cells as shown by increases in acetylcarnitine, propionylcarnitine, and 3HIAc (each increased by >50-fold). Likewise, ratios of acetylcarnitine:malonylcarnitine, propionylcarnitine:methylmalonylcarnitine, and 3HIAc:MGc all increased

  4. 2011年三亚市碘缺乏病调查结果分析%Iodine deficiency disorders in Sanya in 2011: an analysis of a survey results

    Institute of Scientific and Technical Information of China (English)

    黄梅香

    2012-01-01

    目的 了解三亚市碘缺乏病防治现状,为防治碘缺乏病提供科学依据.方法 按《海南省2011年碘缺乏病监测方案》要求,在三亚市按东、南、西、北、中5个方位各抽取1个镇(区),在每个镇(区)再按东、南、西、北4个方位各抽取1个行政村,每个行政村抽取盐样15份、育龄妇女尿样8份,生活饮用水样1份.在每个镇(区)抽取1所小学,每所小学抽取8~ 10岁儿童40名,进行甲状腺检查,智商测定,取尿样测定尿碘.在每所小学抽取5年级学生33名进行健康教育问卷调查和家庭食用盐检测(半定量检测).盐碘测定采用直接滴定法;尿碘、水碘测定采用砷铈催化分光光度测定法;儿童智商测定采用联合型瑞文测验农村版.结果 共检测居民盐样300份,盐碘中位数为31.0 mg/kg,碘盐覆盖率为96.67%(290/300),合格碘盐食用率为96.00%(288/300).共测定200名儿童尿样,尿碘中位数为194.60 μg/L,尿碘范围18.50 ~ 655.10 μg/L,<50 μg/L和50~<100 μg/L的比例分别为4.00%(8/200)和13.50%(27/200);共调查200名儿童甲状腺,触诊法甲状腺肿大率为1.00%(2/200);儿童智商均值为97.66,智商≤69的有8名,在70 ~ 79的有20名.对165名学生进行了健康教育问卷调查,平均得分为3.24,其中有43人不及格,不及格率为26.06%;家中盐样测定,碘盐覆盖率为96.36%(159/165).160名育龄妇女尿碘中位数为162.95 μg,/L,尿碘范围在9.50 ~ 908.80 μg/L,<100 μg/L的占19.38%(31/160);家中盐样测定,合格碘盐食用率为96.90%(155/160).5个乡镇(区)20份水样测定,水碘全部< 10.0 μg/L.结论 三亚市仍属于外环境缺碘地区,虽然总体上已达到消除碘缺乏病目标,但仍有部分儿童和育龄妇女存在碘营养不足.%Objective In order to understand the Sanya of iodine deficiency disorders(IDD) prevention and cure,and to provide a scientific basis for formulating corresponding control measures

  5. Interactions of vitamin A and iodine deficiencies: effects on the pituitary-thyroid axis

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2007-01-01

    Vitamin A (VA) deficiency (VAD) and the iodine deficiency disorders (IDD) affect > 30% of the global population and these deficiencies often coexist in vulnerable groups. VAD has multiple effects on the pituitary-thyroid axis; VA status modulates thyroid gland metabolism, peripheral metabolism of

  6. Soil nutrient assessment for urban ecosystems in Hubei, China.

    Directory of Open Access Journals (Sweden)

    Zhi-Guo Li

    Full Text Available Recent urban landscape vegetation surveys conducted in many cities in China identified numerous plant nutrient deficiencies, especially in newly developed cities. Soil nutrients and soil nutrient management in the cities of Hubei province have not received adequate attention to date. The aims of this study were to characterize the available nutrients of urban soils from nine cities in Hubei province, China, and to assess how soil nutrient status is related to land use type and topography. Soil nutrients were measured in 405 sites from 1,215 soil samples collected from four land use types (park, institutional [including government building grounds, municipal party grounds, university grounds, and garden city institutes], residential, and roadside verges and three topographies (mountainous [142-425 m a.s.l], hilly [66-112 m a.s.l], and plain [26-30 m a.s.l]. Chemical analyses showed that urban soils in Hubei had high pH and lower soil organic matter, available nitrogen (N, available phosphorus (P, and available boron (B concentrations than natural soils. Nutrient concentrations were significantly different among land use types, with the roadside and residential areas having greater concentrations of calcium (Ca, sulfur (S, copper (Cu, manganese (Mn, and zinc (Zn that were not deficient against the recommended ranges. Topographic comparisons showed statistically significant effects for 8 of the 11 chemical variables (p < 0.05. Concentrations of N, Ca, Mg, S, Cu, and Mn in plain cities were greater than those in mountainous cities and show a negative correlation with city elevation. These results provide data on urban soils characteristics in land use types and topography, and deliver significant information for city planners and policy makers.

  7. Muscle phosphorylase kinase deficiency

    DEFF Research Database (Denmark)

    Preisler, N; Orngreen, M C; Echaniz-Laguna, A

    2012-01-01

    To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).......To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD)....

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... loss and lead to iron-deficiency anemia. Common causes of blood loss that lead to iron-deficiency anemia include: Bleeding in your GI tract, from an ulcer, colon cancer, or regular use of medicines such as aspirin ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia. Search the NIH Research Portfolio Online Reporting Tools (RePORT) to learn about research that ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blocks the intestine from taking up iron. Other medical conditions Other medical conditions that may lead to iron-deficiency anemia ... daily amount of iron. If you have other medical conditions that cause iron-deficiency anemia , such as ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. Blood tests to screen for ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Are you curious about how inflammation from chronic diseases can cause iron-deficiency anemia? Read more When there is ... DBDR) is a leader in research on the causes, prevention, and treatment of blood diseases, including iron-deficiency anemia. Search the NIH Research ...

  13. Nutritional iron deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.; Hurrell, R.F.

    2007-01-01

    Iron deficiency is one of the leading risk factors for disability and death worldwide, affecting an estimated 2 billion people. Nutritional iron deficiency arises when physiological requirements cannot be met by iron absorption from diet. Dietary iron bioavailability is low in populations consuming

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Topics section only, or the News and Resources section. NHLBI Entire Site NHLBI Entire Site Health ... español Iron-deficiency anemia is a common type of anemia that occurs if you do not have enough iron in your body. People with mild or moderate iron-deficiency anemia ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as meat and fish, may result in ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood cells. Iron-deficiency anemia usually develops over time because your body’s intake of iron is too ... clamping of your newborn’s umbilical cord at the time of delivery. This may help prevent iron-deficiency ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... other conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ... check the size of your liver and spleen. Blood tests Based on results from blood tests to screen ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... also are hoping to determine which iron supplements work best to treat iron-deficiency anemia in children who do not consume the daily recommended amount of iron. Read less Participate in NHLBI Clinical Trials We lead or sponsor many studies related to iron-deficiency anemia. See if you ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... en español Iron-deficiency anemia is a common type of anemia that occurs if you do not ... iron-deficiency anemia and help rule out other types of anemia. Treatment will explain treatment-related complications ...

  20. Iron deficiency in childhood

    NARCIS (Netherlands)

    Uijterschout, L.

    2015-01-01

    Iron deficiency (ID) is the most common micronutrient deficiency in the world. Iron is involved in oxygen transport, energy metabolism, immune response, and plays an important role in brain development. In infancy, ID is associated with adverse effects on cognitive, motor, and behavioral development

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... anemia. Return to Signs, Symptoms, and Complications to review signs and symptoms as well as complications from iron-deficiency ... NIH]) Heavy Menstrual Bleeding (Centers for Disease Control and ... Dietary Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library ...

  2. Iron deficiency anemia

    Science.gov (United States)

    Anemia - iron deficiency ... iron from old red blood cells. Iron deficiency anemia develops when your body's iron stores run low. ... You may have no symptoms if the anemia is mild. Most of the time, ... slowly. Symptoms may include: Feeling weak or tired more often ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, ... you are experiencing side effects such as a bad metallic taste, vomiting, diarrhea, constipation, or upset stomach. ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... how we are using current research and advancing research to prevent iron-deficiency anemia. Participate in NHLBI Clinical Trials will explain our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and Complications ...

  5. Diagnosis of nutrient imbalances with vector analysis in agroforestry systems.

    Science.gov (United States)

    Isaac, Marney E; Kimaro, Anthony A

    2011-01-01

    Agricultural intensification has had unintended environmental consequences, including increased nutrient leaching and surface runoff and other agrarian-derived pollutants. Improved diagnosis of on-farm nutrient dynamics will have the advantage of increasing yields and will diminish financial and environmental costs. To achieve this, a management support system that allows for site-specific rapid evaluation of nutrient production imbalances and subsequent management prescriptions is needed for agroecological design. Vector diagnosis, a bivariate model to depict changes in yield and nutritional response simultaneously in a single graph, facilitates identification of nutritional status such as growth dilution, deficiency, sufficiency, luxury uptake, and toxicity. Quantitative data from cocoa agroforestry systems and pigeonpea intercropping trials in Ghana and Tanzania, respectively, were re-evaluated with vector analysis. Relative to monoculture, biomass increase in cocoa ( L.) under shade (35-80%) was accompanied by a 17 to 25% decline in P concentration, the most limiting nutrient on this site. Similarly, increasing biomass with declining P concentrations was noted for pigeonpea [ (L). Millsp.] in response to soil moisture availability under intercropping. Although vector analysis depicted nutrient responses, the current vector model does not consider non-nutrient resource effects on growth, such as ameliorated light and soil moisture, which were particularly active in these systems. We revisit and develop vector analysis into a framework for diagnosing nutrient and non-nutrient interactions in agroforestry systems. Such a diagnostic technique advances management decision-making by increasing nutrient precision and reducing environmental issues associated with agrarian-derived soil contamination. American Society of Agronomy, Crop Science Society of America, and Soil Science Society of America.

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... The Science Science Home Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart ... Donor Studies (REDS) program Blood Disorders and Blood Safety Trans-Omics for Precision Medicine (TOPMed) Program Non- ...

  7. Thiamine Deficiency Induces Anorexia by Inhibiting Hypothalamic AMPK

    Science.gov (United States)

    Liu, Mei; Alimov, Alexander; Wang, Haiping; Frank, Jacqueline A.; Katz, Wendy; Xu, Mei; Ke, Zun-Ji; Luo, Jia

    2014-01-01

    Obesity and eating disorders are prevailing health concerns worldwide. It is important to understand the regulation of food intake and energy metabolism. Thiamine (vitamin B1) is an essential nutrient. Thiamine deficiency (TD) can cause a number of disorders in humans, such as Beriberi and Wernicke-Korsakoff syndrome. We demonstrated here that TD caused anorexia in C57BL/6 mice. After feeding a TD diet for 16 days, the mice displayed a significant decrease in food intake and an increase in resting energy expenditure (REE), which resulted in a severe weight loss. At the 22nd day, the food intake was reduced by 69% and 74% for male and female mice, respectively in TD group. The REE increased by 9 folds in TD group. The loss of body weight (17–24%) was similar between male and female animals and mainly resulted from the reduction of fat mass (49% decrease). Re-supplementation of thiamine (benfotiamine) restored animal's appetite, leading to a total recovery of body weight. The hypothalamic AMPK is a critical regulator of food intake. TD inhibited the phosphorylation of AMPK in the arcuate nucleus (ARN) and paraventricular nucleus (PVN) of the hypothalamus without affecting its expression. TD-induced inhibition of AMPK phosphorylation was reversed once thiamine was re-supplemented. In contrast, TD increased AMPK phosphorylation in the skeletal muscle and upregulated the uncoupling protein (UCP)-1 in brown adipose tissues which was consistent with increased basal energy expenditure. Re-administration of thiamine stabilized AMPK phosphorylation in the skeletal muscle as well as energy expenditure. Taken together, TD may induce anorexia by inhibiting hypothalamic AMPK activity. With a simultaneous increase in energy expenditure, TD caused an overall body weight loss. The results suggest that the status of thiamine levels in the body may affect food intake and body weight. PMID:24607345

  8. Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.

    Science.gov (United States)

    Huang, Xiao; Anderle, Pascale; Hostettler, Lu; Baumann, Marc U; Surbek, Daniel V; Ontsouka, Edgar C; Albrecht, Christiane

    2018-03-02

    Gestational disorders such as intrauterine growth restriction (IUGR) and pre-eclampsia (PE) are main causes of poor perinatal outcomes worldwide. Both diseases are related with impaired materno-fetal nutrient transfer, but the crucial transport mechanisms underlying IUGR and PE are not fully elucidated. In this study, we aimed to identify membrane transporters highly associated with transplacental nutrient deficiencies in IUGR/PE. In silico analyses on the identification of differentially expressed nutrient transporters were conducted using seven eligible microarray datasets (from Gene Expression Omnibus), encompassing control and IUGR/PE placental samples. Thereby 46 out of 434 genes were identified as potentially interesting targets. They are involved in the fetal provision with amino acids, carbohydrates, lipids, vitamins and microelements. Targets of interest were clustered into a substrate-specific interaction network by using Search Tool for the Retrieval of Interacting Genes. The subsequent wet-lab validation was performed using quantitative RT-PCR on placentas from clinically well-characterized IUGR/PE patients (IUGR, n = 8; PE, n = 5; PE+IUGR, n = 10) and controls (term, n = 13; preterm, n = 7), followed by 2D-hierarchical heatmap generation. Statistical evaluation using Kruskal-Wallis tests was then applied to detect significantly different expression patterns, while scatter plot analysis indicated which transporters were predominantly influenced by IUGR or PE, or equally affected by both diseases. Identified by both methods, three overlapping targets, SLC7A7, SLC38A5 (amino acid transporters), and ABCA1 (cholesterol transporter), were further investigated at the protein level by western blotting. Protein analyses in total placental tissue lysates and membrane fractions isolated from disease and control placentas indicated an altered functional activity of those three nutrient transporters in IUGR/PE. Combining bioinformatic analysis

  9. Zinc Deficiency in Humans and its Amelioration

    Directory of Open Access Journals (Sweden)

    Yashbir Singh Shivay

    2015-01-01

    Full Text Available Zinc (Zn deficiency in humans has recently received considerable attention. Global mortality in children under 5 years of age in 2004 due to Zn deficiency was estimated at 4,53,207 as against 6,66,771 for vitamin A deficiency; 20,854 for iron deficiency and 3,619 for iodine deficiency. In humans 2800-3000 proteins contain Zn prosthetic group and Zn is an integral component of zinc finger prints that regulate DNA transcription. Zinc is a Type-2 nutrient, which means that its concentration in blood does not decrease in proportion of the Zn deficiency. Adverse effects of Zn deficiency vary with age: low weight gain, diarrhoea, aneroxia and neurobehavioral disturbances are observed in infants, while skin changes and dwarfism are frequent in toddlers and adolescents. Common manifestations of Zn deficiency among elderly include hypogeusia, chronic non-healing ulcers and recurrent infections.Ameliorative measures of Zn deficiency in humans can be classified in two groups, namely, nutraceutical and biofortification of food grains. Nutraceutical interventions include pharmaceutical supplements, dietary supplements and dietary diversification, while biofortification of food grains can be achieved by genetic modification (GM of crops or by agronomic techniques that include soil or/and foliar fertilization of crops.The major disadvantage of nutraceutical approaches is that the major beneficiaries are urban people and the poor rural masses that need adequate Zn nutrition most are left out. Genetic biofortification of food grains requires large amounts of funds and a fairly long-period of time. Further, a large number of countries have not yet accepted genetically modified (GM foods. On the other hand agronomic biofortification of food grains yields immediate effects and rural and urban people are equally benefitted. Our studies have shown that Zn concentration in cereals (rice, wheat etc and pulses can be considerably increased by soil or/and foliar

  10. Zinc Deficiency in Humans and its Amelioration

    Directory of Open Access Journals (Sweden)

    Yashbir Singh Shivay

    2015-12-01

    Full Text Available Zinc (Zn deficiency in humans has recently received considerable attention. Global mortality in children under 5 years of age in 2004 due to Zn deficiency was estimated at 4,53,207 as against 6,66,771 for vitamin A deficiency; 20,854 for iron deficiency and 3,619 for iodine deficiency. In humans 2800-3000 proteins contain Zn prosthetic group and Zn is an integral component of zinc finger prints that regulate DNA transcription. Zinc is a Type-2 nutrient, which means that its concentration in blood does not decrease in proportion of the Zn deficiency. Adverse effects of Zn deficiency vary with age: low weight gain, diarrhoea, aneroxia and neurobehavioral disturbances are observed in infants, while skin changes and dwarfism are frequent in toddlers and adolescents. Common manifestations of Zn deficiency among elderly include hypogeusia, chronic non-healing ulcers and recurrent infections. Ameliorative measures of Zn deficiency in humans can be classified in two groups, namely, nutraceutical and biofortification of food grains. Nutraceutical interventions include pharmaceutical supplements, dietary supplements and dietary diversification, while biofortification of food grains can be achieved by genetic modification (GM of crops or by agronomic techniques that include soil or/and foliar fertilization of crops. The major disadvantage of nutraceutical approaches is that the major beneficiaries are urban people and the poor rural masses that need adequate Zn nutrition most are left out. Genetic biofortification of food grains requires large amounts of funds and a fairly long-period of time. Further, a large number of countries have not yet accepted genetically modified (GM foods. On the other hand agronomic biofortification of food grains yields immediate effects and rural and urban people are equally benefitted. Our studies have shown that Zn concentration in cereals (rice, wheat etc and pulses can be considerably increased by soil or/and foliar

  11. Nutrients in the nexus

    Science.gov (United States)

    Davidson, Eric A.; Niphong, Rachel; Ferguson, Richard B.; Palm, Cheryl; Osmond, Deanna L.; Baron, Jill S.

    2016-01-01

    Synthetic nitrogen (N) fertilizer has enabled modern agriculture to greatly improve human nutrition during the twentieth century, but it has also created unintended human health and environmental pollution challenges for the twenty-first century. Averaged globally, about half of the fertilizer-N applied to farms is removed with the crops, while the other half remains in the soil or is lost from farmers’ fields, resulting in water and air pollution. As human population continues to grow and food security improves in the developing world, the dual development goals of producing more nutritious food with low pollution will require both technological and socio-economic innovations in agriculture. Two case studies presented here, one in sub-Saharan Africa and the other in Midwestern United States, demonstrate how management of nutrients, water, and energy is inextricably linked in both small-scale and large-scale food production, and that science-based solutions to improve the efficiency of nutrient use can optimize food production while minimizing pollution. To achieve the needed large increases in nutrient use efficiency, however, technological developments must be accompanied by policies that recognize the complex economic and social factors affecting farmer decision-making and national policy priorities. Farmers need access to affordable nutrient supplies and support information, and the costs of improving efficiencies and avoiding pollution may need to be shared by society through innovative policies. Success will require interdisciplinary partnerships across public and private sectors, including farmers, private sector crop advisors, commodity supply chains, government agencies, university research and extension, and consumers.

  12. Trends in nutrients

    Science.gov (United States)

    Heathwaite, A.L.; Johnes, P.J.; Peters, N.E.

    1996-01-01

    The roles of nitrogen (N) and phosphorus (P) as key nutrients determining the trophic status of water bodies are examined, and evidence reviewed for trends in concentrations of N and P species which occur in freshwaters, primarily in northern temperate environments. Data are reported for water bodies undergoing eutrophication and acidification, especially water bodies receiving increased nitrogen inputs through the atmospheric deposition of nitrogen oxides (NOx). Nutrient loading on groundwaters and surface freshwaters is assessed with respect to causes and rates of (change, relative rates of change for N and P, and implications of change for the future management of lakes, rivers and groundwaters. In particular, the nature and emphasis of studies for N species and P fractions in lakes versus rivers and groundwaters are contrasted. This review paper primarily focuses on results from North America and Europe, particularly for the UK where a wide range of data sets exists. Few nutrient loading data have been published on water bodies in less developed countries; however, some of the available data are presented to provide a global perspective. In general, N and P concentrations have increased dramatically (>20 times background concentrations) in many areas and causes vary considerably, ranging from urbanization to changes in agricultural practices.

  13. Inherited coagulation factor VII and X deficiencies associated with severe bleeding diathesis: Molecular genetics and pathophysiology

    NARCIS (Netherlands)

    Borensztajn, K.; Spek, C. A.

    2005-01-01

    The rare inherited coagulation disorders are a fascinating group of diseases that have provided us with important insights into the structure and functions of their respective deficient proteins. Factor (F)VII deficiency is the commonest of these inherited disorders of coagulation, whereas FX

  14. Assessment of Nutrient Stability in Space Foods

    Science.gov (United States)

    Zwart, S. R.; Perchonok, M.; Braby, L. A.; Kloeris, V. A.; Smith, S. M.

    2009-01-01

    Maintaining an intact nutrient supply in the food system flown on spacecraft is a critical issue for mission success and crew health and safety. Early polar expeditions and exploration expeditions by sailing vessels have taught us that a deficiency, or excess, of even a single vitamin in the food supply can be catastrophic. Evidence from ground-based research indicates that some vitamins are destroyed and fatty acids are oxidized (and therefore rendered dangerous or useless) by different types of radiation and by conditions of long-term storage. We hypothesize that radiation and long-term storage in the space-flight environment will affect the stability of vitamins, amino acids, and fatty acids in the space food system. The research objectives of our ongoing stability studies are to determine the stability of water- and fat-soluble vitamins, fatty acids, and amino acids in the space food supply before and after space flight on the International Space Station (ISS). Foods were analyzed after 2 weeks (a flight control), 11, 19, and 28 months of flight. Along with the space-flown foods, ground-based controls matched for time, light, and temperature are analyzed. The flight studies complement planned ground-based studies of the effects of radiation on vitamins, amino acids, and fatty acids. Flight studies are needed because a model based on ground-based data cannot predict all of the effects of the space-flight environment. Flight studies provide a more accurate test system to determine the effects on these nutrients of the temperature, and radiation conditions in the space-flight environment. Ground studies are required to evaluate longer missions and higher radiation levels expected outside low-Earth orbit. In addition to providing information about nutrient stability in space, the results of these studies will help NASA determine if a need exists to develop special packaging that can ensure stability of foods and nutrients in space, or if further studies of nutrient

  15. Characterization of the effects of macronutrient deficiencies in mangabeira seedlings

    Directory of Open Access Journals (Sweden)

    Layara Alexandre Bessa

    2012-12-01

    Full Text Available Knowledge of the mineral nutrition requirements of mangabeira (Hancornia speciosa Gomes is relatively scarce and rudimentary because there is a lack of consistent data concerning its nutritional demands at different developmental stages. The aim of this research was to characterize the visual symptoms of macronutrient deficiencies and to evaluate the effects of these deficiencies on the growth, the production of dry matter, and the leaf content of mangabeira. To achieve this goal, a greenhouse experiment was conducted at the Goiano Federal Institute (Instituto Federal Goiano in Rio Verde - GO, from January to June 2011 in which mangabeira plants were arranged in a random block design and grown in nutrient solutions. This experiment was replicated four times. The plants were treated with either a complete nutrient solution or a nutrient solution from which the individual macronutrient of interest (nitrogen (N, phosphorous (P, potassium (K, magnesium (Mg, calcium (Ca, or sulfur (S had been omitted. The omission of a macronutrient from the nutrient solution resulted in morphological alterations that were characteristic symptoms of the particular nutritional deficiency and caused decreases in growth and dry matter mass production. The accumulation of macronutrients displayed the following order in mangabeira leaves: N>K>Ca>P>S>Mg.

  16. Vitamin B12 deficiency

    DEFF Research Database (Denmark)

    Green, Ralph; Allen, Lindsay H; Bjørke-Monsen, Anne-Lise

    2017-01-01

    , subclinical deficiency affects between 2.5% and 26% of the general population depending on the definition used, although the clinical relevance is unclear. B12 deficiency can affect individuals at all ages, but most particularly elderly individuals. Infants, children, adolescents and women of reproductive age...... remain debated. Management depends on B12 supplementation, either via high-dose oral routes or via parenteral administration. This Primer describes the current knowledge surrounding B12 deficiency, and highlights improvements in diagnostic methods as well as shifting concepts about the prevalence, causes...

  17. Phosphorus deficiency enhances molybdenum uptake by tomato plants

    International Nuclear Information System (INIS)

    Heuwinkel, H.; Kirkby, E.A.; Le Bot, J.; Marschner, H.

    1992-01-01

    Water culture experiments are described which provide conclusive evidence that Mo uptake by tomato plants is markedly enhanced by P deficiency. In a longterm experiment, which ran for 11 days, in marked contrast to the uptake of other nutrients, a three fold higher Mo uptake rate was observed after only four days of withdrawal of P from the nutrient medium. In contrast to the gradual increase in pH of the nutrient medium of the plants supplied with P, the pH in the medium of the -P plants fell. Throughout the growth of these plants net H+ efflux could be accounted for by excess cation over anion uptake, indicating that organic acid extrusion plays no major role in the observed fall in pH. Further evidence that Mo uptake is enhanced in P deficient tomato plants is provided in short-term nutrient solution experiments (1h and 4h) using radioactive molybdenum (99Mo). Compared with P sufficient plants, the uptake rates of 99Mo by P deficient plants were three to five times higher after 1h and nine to twelve times higher after 4h. Resupplying P during the uptake periods to deficient plants reduced the uptake rate of 99Mo to values similar to those of P sufficient plants. It is concluded that the uptake of molybdate occurs via phosphate binding/ transporting sites at the plasma membrane of root cells. Further support for this conclusion comes from exchange experiments with non-labelled molybdenum, which show a much larger amount of 99Mo exchangeable from the roots of P deficient plants

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and dark green leafy vegetables. Foods rich in vitamin C, such as oranges, strawberries, and tomatoes, may ... of other nutrients in your blood, such as vitamin B12 or folic acid. Visit our Pernicious Anemia ...

  19. Chemicals, nutrition, and autism spectrum disorder: a mini-review

    Directory of Open Access Journals (Sweden)

    Takeo eFujiwara

    2016-04-01

    Full Text Available The rapid increase of the prevalence of autism spectrum disorder (ASD suggests that exposure to chemicals may impact the development of ASD. Therefore, we reviewed literature on the following chemicals, nutrient to investigate their association with ASD: 1 smoke/tobacco, 2 alcohol, 3 air pollution, 4 pesticides, 5 endocrine-disrupting chemicals, 6 heavy metals, 7 micronutrients, 8 fatty acid, and 9 parental obesity as a proxy of accumulation of specific chemicals or nutritional status. Several chemical exposures such as air pollution (e.g., particular matter 2.5, pesticides, bisphenol A, phthalates, mercury, and nutrition deficiency such as folic acid, vitamin D, or fatty acid may possibly be associated with an increased risk of ASD, whereas other traditional risk factors such as smoking/tobacco, alcohol, or polychlorinated biphenyls are less likely to be associated with ASD. Further research is needed to accumulate evidence on the association between chemical exposure and nutrient deficiencies and ASD in various doses and populations.

  20. Behavioral impairments in animal models for zinc deficiency

    Directory of Open Access Journals (Sweden)

    Simone eHagmeyer

    2015-01-01

    Full Text Available Apart from teratogenic and pathological effects of zinc deficiency such as the occurrence of skin lesions, anorexia, growth retardation, depressed wound healing, altered immune function, impaired night vision, and alterations in taste and smell acuity, characteristic behavioral changes in animal models and human patients suffering from zinc deficiency have been observed. Given that it is estimated that about 17% of the worldwide population are at risk for zinc deficiency and that zinc deficiency is associated with a variety of brain disorders and disease states in humans, it is of major interest to investigate, how these behavioral changes will affect the individual and a putative course of a disease. Thus, here, we provide a state of the art overview about the behavioral phenotypes observed in various models of zinc deficiency, among them environmentally produced zinc deficient animals as well as animal models based on a genetic alteration of a particular zinc homeostasis gene. Finally, we compare the behavioral phenotypes to the human condition of mild to severe zinc deficiency and provide a model, how zinc deficiency that is associated with many neurodegenerative and neuropsychological disorders might modify the disease pathologies.

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... body to absorb iron from the gastrointestinal tract (GI tract). Blood loss When you lose blood, you ... to iron-deficiency anemia include: Bleeding in your GI tract, from an ulcer, colon cancer, or regular ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... for gastrointestinal bleeding To see if gastrointestinal bleeding is causing your iron-deficiency anemia, your doctor may order the following procedures to guide treatment . Fecal ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... complications, including heart failure and development delays in children. Explore this Health ... red blood cells. Iron-deficiency anemia usually develops over time because your body’s intake of iron ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library of Medicine, MedlinePlus) ... Privacy Policy Freedom of Information Act (FOIA) Accessibility Copyright and Usage No FEAR ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... our clinical trials . Are you a frequent blood donor living in New York City? This study is looking at how iron-deficiency anemia in blood donors affects the quality of donated red blood cells, ...

  6. Vitamin D Deficiency

    Science.gov (United States)

    ... to other diseases. In children, it can cause rickets. Rickets is a rare disease that causes the bones ... and children are at higher risk of getting rickets. In adults, severe vitamin D deficiency leads to ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Health and Human Development, we are investigating how best to treat premature newborns with low hemoglobin levels. ... are hoping to determine which iron supplements work best to treat iron-deficiency anemia in children who ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and Strategic Vision Leadership Scientific Divisions Operations and Administration Advisory Committees Budget and Legislative Information Jobs and ... may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia may cause the following complications: Depression Heart problems. If you do not have enough ... these usually go away within a day or two. Red blood cell transfusions. These may be used ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... more. Read less Reminders Return to Causes to review how blood loss, not consuming the recommended amount ... iron-deficiency anemia. Return to Risk Factors to review family history, lifestyle, unhealthy environments, or other factors ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... same for boys and girls. From birth to 6 months, babies need 0.27 mg of iron. ... for iron deficiency at certain ages: Infants between 6 and 12 months, especially if they are fed ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... detect signs of iron-deficiency anemia and help rule out other types of anemia. Treatment will explain ... your blood. More testing may be needed to rule out other types of anemia. Tests for gastrointestinal ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... red blood cells, called hemolysis . Hemolysis, in this case, is caused by strong muscle contractions and the ... to prevent iron-deficiency anemia. Participate in NHLBI Clinical Trials will explain our ongoing clinical studies that ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... to improve health through research and scientific discovery. Improving health with current research Learn about the following ... deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... A-Z Clinical Trials Publications and Resources Health Education and Awareness ... If your doctor diagnoses you with iron-deficiency anemia, your treatment will depend on the cause and severity of the condition. Your ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... your blood may be normal even if the total amount of iron in your body is low. ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... interferes with the body’s ability to make hemoglobin. Family history and genetics Von Willebrand disease is an ... deficiency anemia. Return to Risk Factors to review family history, lifestyle, unhealthy environments, or other factors that ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... diagnoses you with iron-deficiency anemia, your treatment will depend on the cause and severity of the ... of iron. The recommended daily amounts of iron will depend on your age, sex, and whether you ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... from developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, ... iron is needed, such as childhood and pregnancy. Good sources of iron are meat, poultry, fish, and ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... heart failure . Increased risk of infections Motor or cognitive development delays in children Pregnancy complications, such as ... iron-deficiency anemia may require intravenous (IV) iron therapy or a blood transfusion . Iron supplements Your doctor ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... absorb iron and lead to iron-deficiency anemia. These conditions include: Intestinal and digestive conditions, such as ... tract. Inflammation from congestive heart failure or obesity . These chronic conditions can lead to inflammation that may ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ... Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical ...

  3. Factor V deficiency

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000550.htm Factor V deficiency To use the sharing features on ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  4. Factor II deficiency

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000549.htm Factor II deficiency To use the sharing features on ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  5. Factor X deficiency

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000553.htm Factor X deficiency To use the sharing features on ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... is caused by strong muscle contractions and the impact of feet repeatedly striking the ground, such as ... funding on iron-deficiency anemia. We stimulate high-impact research. Our Trans-Omics for Precision Medicine (TOPMed) ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may be diagnosed with iron-deficiency anemia if you have low iron or ferritin levels in your blood. More testing may be needed to rule out other types of anemia. Tests for gastrointestinal ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... for your body to absorb iron from the gastrointestinal tract (GI tract). Blood loss When you lose blood, ... iron deficiency. Endurance athletes lose iron through their gastrointestinal tracts. They also lose iron through the breakdown of ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... vegetables. Foods rich in vitamin C, such as oranges, strawberries, and tomatoes, may help increase your absorption ... deficiency anemia, your doctor may recommend erythropoiesis stimulating agents (esa) . These medicines stimulate the bone marrow to ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... were born prematurely may be at an even higher risk, as most of a newborn’s iron stores ... men of the same age. Women are at higher risk for iron-deficiency anemia under some circumstances, ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Iron-Deficiency Anemia (National Library of Medicine, MedlinePlus) Building 31 31 Center Drive Bethesda, MD 20892 Learn ... and Usage No FEAR Act Grants and Funding Building 31 31 Center Drive Bethesda, MD 20892 Learn ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may recommend erythropoiesis stimulating agents (esa) . These medicines stimulate the bone marrow to make more red blood ... NHLBI is funding on iron-deficiency anemia. We stimulate high-impact research. Our Trans-Omics for Precision ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... tests, especially in infants and small children Heavy menstrual periods Injury or surgery Urinary tract bleeding Consuming ... iron-deficiency anemia from trauma, surgery, or heavy menstrual periods. Individuals with a gene for hemophilia, including ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and naproxen Certain rare genetic conditions such as hereditary hemorrhagic telangiectasia, which causes bleeding in the bowels ... iron-deficiency anemia may cause the following complications: Depression Heart problems. If you do not have enough ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... lead in their blood from their environment or water. Lead interferes with the body’s ability to make ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... also often take other medicines—such as proton pump inhibitors, anticoagulants, or blood thinners—that may cause iron-deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood thinners ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Cells From Iron-deficient Donors: Recovery and Storage Quality. Learn more about participating in a clinical trial . View all trials from ClinicalTrials.gov . Visit Children and Clinical Studies to hear experts, parents, and ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Look for Treatment will discuss medicines and eating pattern changes that your doctors may recommend if you ... iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... girls. From birth to 6 months, babies need 0.27 mg of iron. This number goes up ... screen blood donors for low iron stores. Reliable point-of-care testing may help identify iron deficiency ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... striking the ground, such as with marathon runners. Sex Girls and women between the ages of 14 ... developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, eggs, ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron- ... factors , such as if you are following a vegetarian eating pattern, your doctor may recommend changes to ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood thinners increase the likelihood of bleeding ... oranges, strawberries, and tomatoes, may help increase your absorption of iron. If you are pregnant, talk to ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... screen for iron-deficiency anemia, your doctor may order a blood test called a complete blood count ( ... your risk factors , do a physical exam, or order blood tests or other diagnostic tests. Physical exam ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... duodenum, the first part of the small intestine just beyond the stomach. Even if you have enough ... clamping of your newborn’s umbilical cord at the time of delivery. This may help prevent iron-deficiency ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, red blood ... both full-term and preterm infants. Look for Diagnosis will explain tests and procedures that your doctor ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, red blood ... physical exam, or order blood tests or other diagnostic tests. Physical exam Your doctor may ask about ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, ... iron-fortified foods that have iron added. Vegetarian diets can provide enough iron if you choose nonmeat ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... bleeding. If undiagnosed or untreated, iron-deficiency anemia can cause serious complications, including heart failure and development ... iron is too low. Low intake of iron can happen because of blood loss, consuming less than ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... improved health for people with iron-deficiency anemia. Recipient Epidemiology Donor Studies program findings help to protect blood donors . NHLBI’s Recipient Epidemiology Donor Studies (REDS) program , which began in ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... a frequent blood donor living in New York City? This study is looking at how iron-deficiency ... frequently. This study is located in New York City, and is recruiting by invitation only. View more ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... to 11 mg for children ages 7 to 12 months, and down to 7 mg for children ... deficiency at certain ages: Infants between 6 and 12 months, especially if they are fed only breast ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... in our clinical trials . Are you a frequent blood donor living in New York City? This study is looking at how iron-deficiency anemia in blood donors affects the quality of donated red blood cells, ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia may cause the following complications: Depression Heart problems. If you do not have enough ... prevent complications such as abnormal heart rhythms and depression. Learn the warning signs of serious complications and ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... prevent complications such as abnormal heart rhythms and depression. Learn the warning signs of serious complications and ... donors for low iron stores. Reliable point-of-care testing may help identify iron deficiency before potentially ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for ... Surgery, upper endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... breastfeeding women older than 18 need 9 mg. Problems absorbing iron Even if you consume the recommended ... interested in learning how having iron-deficiency anemia early in life affects later behavior, thinking, and mood ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause ... as complete blood count and iron studies. Prevent complications over your lifetime To prevent complications from iron- ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... you do not have enough iron in your body. People with mild or moderate iron-deficiency anemia ... and where to find more information. Causes Your body needs iron to make healthy red blood cells. ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia. Learn about the current and future NHLBI efforts to improve health through research and ... blood donors. Cardiovascular Health Study identifies predictors of future health problems in older adults. The NHLBI-sponsored ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... as most of a newborn’s iron stores are developed during the third trimester of pregnancy. Children between ... This makes it harder to stop bleeding and can increase the risk of iron-deficiency anemia from ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... an MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such ... explain our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... symptoms. More severe iron-deficiency anemia may cause fatigue or tiredness, shortness of breath, or chest pain. ... in the hands and feet Difficulty concentrating Dizziness Fatigue, or feeling tired, is the most common symptom. ...

  3. Manganese deficiency in plants

    DEFF Research Database (Denmark)

    Schmidt, Sidsel Birkelund; Jensen, Poul Erik; Husted, Søren

    2016-01-01

    Manganese (Mn) is an essential plant micronutrient with an indispensable function as a catalyst in the oxygen-evolving complex (OEC) of photosystem II (PSII). Even so, Mn deficiency frequently occurs without visual leaf symptoms, thereby masking the distribution and dimension of the problem...... restricting crop productivity in many places of the world. Hence, timely alleviation of latent Mn deficiency is a challenge in promoting plant growth and quality. We describe here the key mechanisms of Mn deficiency in plants by focusing on the impact of Mn on PSII stability and functionality. We also address...... the mechanisms underlying the differential tolerance towards Mn deficiency observed among plant genotypes, which enable Mn-efficient plants to grow on marginal land with poor Mn availability....

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... to learn more about iron-deficiency anemia, our role in research and clinical trials to improve health, ... of Blood Diseases and Resources (DBDR) is a leader in research on the causes, prevention, and treatment ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Treatment will explain treatment-related complications or side effects. Diagnosis Iron-deficiency anemia may be detected during ... to your doctor if you are experiencing side effects such as a bad metallic taste, vomiting, diarrhea, ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... an increased risk for iron-deficiency anemia because of your age, unhealthy environments, family ... 12 months, especially if they are fed only breast milk or are fed formula that is not fortified ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood tests, especially in infants and small children Heavy menstrual periods Injury or surgery Urinary tract bleeding ... of iron-deficiency anemia from trauma, surgery, or heavy menstrual periods. Individuals with a gene for hemophilia, ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, eggs, ... is needed, such as childhood and pregnancy. Good sources of iron are meat, poultry, fish, and iron- ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Individuals with a gene for hemophilia, including symptomatic female carriers who have heavy menstrual periods, may be ... anemia. Endurance activities and athletes. Athletes, especially young females, are at risk for iron deficiency. Endurance athletes ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and Strategic Vision Leadership Scientific Divisions Operations and Administration Advisory Committees Budget and Legislative Information Jobs and ... blood cells. Iron-deficiency anemia usually develops over time because your body’s intake of iron is too ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as ... our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and Complications ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. ... heavy menstrual bleeding, your doctor will want to control these other conditions to prevent you from developing ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... lead to iron-deficiency anemia include: End-stage kidney failure, where there is blood loss during dialysis. People who have chronic kidney disease also often take other medicines—such as ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk ... upper endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily recommended ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily recommended iron ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Chest pain Coldness in the hands and feet Difficulty concentrating Dizziness Fatigue, or feeling tired, is the ... Our support of SBIR/STTR programs is helping advance research in iron-deficiency anemia, in part by ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... infancy has lasting effects. We are interested in learning how having iron-deficiency anemia early in life ... Customer Service/Center for Health Information Email Alerts Jobs and Careers Site Index About NHLBI National Institute ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... family history and genetics , lifestyle habits, or sex. Age You may be at increased risk for iron ... Signs, Symptoms, and Complications Iron-deficiency anemia can range from mild to severe. People with mild or ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron to prepare for blood loss during delivery. Screening and Prevention Your doctor may screen you for ... and symptoms of iron-deficiency anemia. Return to Screening and Prevention to review tests to screen for ...

  20. Vitamin D deficiency and stroke

    Directory of Open Access Journals (Sweden)

    2012-12-01

    Full Text Available Vitamin D comprises a group of fat-soluble pro-hormones, obtained from sun exposure, food, and supplements, and it must undergo two hydroxylation reactions to be activated in the body. Several studies have shown the role of vitamin D in mineral metabolism regulation, especially calcium, phosphorus, and bone metabolism. Some factors such as inadequate vitamin intake and liver or kidney disorders can lead to vitamin D deficiency. Furthermore, vitamin D malnutrition may also be linked to susceptibility to chronic diseases such as heart failure, peripheral artery disease, high blood pressure, cognitive impairment including foggy brain and memory loss, and autoimmune diseases including diabetes type I. Recent research has revealed that low levels of vitamin D increase the risk of cardiovascular-related morbidity (Sato et al., 2004 and mortality (Pilz et al., 2008. Also, hypertension contributes to a reduction in bone mineral density and increase in the incidence of stroke and death. This article reviews the function and physiology of vitamin D and examines the effects of vitamin D deficiency on susceptibility to stroke, as a cardiovascular event, and its morbidity and subsequent mortality.

  1. Lipoprotein lipase deficiency with visceral xanthomas

    Energy Technology Data Exchange (ETDEWEB)

    Servaes, Sabah; Bellah, Richard [Department of Radiology, Philadelphia, PA (United States); Verma, Ritu [Department of Gastroenterology, Philadelphia, PA (United States); Pawel, Bruce [Department of Pathology, Philadelphia, PA (United States)

    2010-08-15

    Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD. (orig.)

  2. Sleep transitions in hypocretin-deficient narcolepsy.

    Science.gov (United States)

    Sorensen, Gertrud Laura; Knudsen, Stine; Jennum, Poul

    2013-08-01

    Narcolepsy is characterized by instability of sleep-wake, tonus, and rapid eye movement (REM) sleep regulation. It is associated with severe hypothalamic hypocretin deficiency, especially in patients with cataplexy (loss of tonus). As the hypocretin neurons coordinate and stabilize the brain's sleep-wake pattern, tonus, and REM flip-flop neuronal centers in animal models, we set out to determine whether hypocretin deficiency and/or cataplexy predicts the unstable sleep-wake and REM sleep pattern of the human phenotype. We measured the frequency of transitions in patients with narcolepsy between sleep-wake states and to/from REM and NREM sleep stages. Patients were subdivided by the presence of +/- cataplexy and +/- hypocretin-1 deficiency. Sleep laboratory studies conducted from 2001-2011. In total 63 narcolepsy patients were included in the study. Cataplexy was present in 43 of 63 patients and hypocretin-1 deficiency was present in 37 of 57 patients. Hypocretin-deficient patients with narcolepsy had a significantly higher frequency of sleep-wake transitions (P = 0.014) and of transitions to/from REM sleep (P = 0.044) than patients with normal levels of hypocretin-1. Patients with cataplexy had a significantly higher frequency of sleep-wake transitions (P = 0.002) than those without cataplexy. A multivariate analysis showed that transitions to/from REM sleep were predicted mainly by hypocretin-1 deficiency (P = 0.011), whereas sleep-wake transitions were predicted mainly by cataplexy (P = 0.001). In human narcolepsy, hypocretin deficiency and cataplexy are both associated with signs of destabilized sleep-wake and REM sleep control, indicating that the disorder may serve as a human model for the sleep-wake and REM sleep flip-flop switches.

  3. 海南省碘缺乏病高危地区重点人群调查结果%Iodine deficiency disorders in high-risk areas of Hainan province from 2007 to 2009: an analysis of survey results

    Institute of Scientific and Technical Information of China (English)

    王红美; 苏英迪; 黄曼; 江苏娟; 吴柳坚; 王善青

    2010-01-01

    目的 了解海南省缺碘高危地区碘缺乏病防治现状和防治措施落实效果.方法 2007-2009年,采用典型抽样方法,在海南省碘盐覆盖率低的8个市(县),以乡为单位搜索10岁以下新发地方性克汀病(地克病)患儿;在乡小学校,抽取8~10岁儿童,采用触诊、B超法检查儿童甲状腺;收集儿童尿样;测定儿童智商(IQ);对五年级学生进行健康教育问卷调查.入户采集育龄妇女尿样和家中食用盐样,同时对妇女进行健康教育问卷调查.尿碘测定采用砷铈催化分光光度法,盐碘测定采用半定量法,IQ测定采用中国联合型瑞文测验(CRT-C2).结果 共调查72个乡(镇),其中8~10儿童7937名、育龄妇女1797名、5年级学生4128名,线索调查发现疑似新发地克病患儿1例.居民碘盐覆盖率由2007年的44.6%(629/1411)提高到2009年的92.1%(1688/1832).儿童甲状腺肿大(甲肿)率触诊法、B超法由2007年的5.9%(269/4548)、6.0%(274/4548)下降到2009年的1.6%(24/1461)、0.1%(2/1461);尿碘中位数由2007年的97.4μg/L上升2009年165.0μg/L;尿碘<50.0μg/L和<100.0μg/L的比例由2007年的21.4%(973/4548)、51.2%(2329/4548)下降到2009年的75%(110/1461)、23.4%(342/1461);育龄妇女尿碘中位数由2007年的73.7μg/L上升到2009年的126.1μg/L,其中孕妇的尿碘中位数由2007年的55.7μg/L上升到2008年117.9μg/L、2009年的121.5 μg/L,但仍<150.0μg/L.五年级学生、育龄妇女碘缺乏病的健康教育问卷调查及格率分别由2007年29.8%(446/1495)、24.1%(179/742)提高到2009年65.8%(732/1112)、72.1%(264/366).儿童IQ值为90.4±16.0,IQ低下(≤69)的比例为12.6%(1000/7937).结论 海南省高危地区碘缺乏病病情逐年改善,但孕妇碘营养水平仍较低,今后应加强对孕妇的补碘.%Objective To know the prevalence of iodine deficiency disorders(IDD) and the implementation of control measures against the disorders in high-risk areas of Hainan province. Methods Typical

  4. [Iron deficiency and pica].

    Science.gov (United States)

    Muñoz, J A; Marcos, J; Risueño, C E; de Cos, C; López, R; Capote, F J; Martín, M V; Gil, J L

    1998-02-01

    To study the relationship between pica and iron-lack anaemia in a series of iron-deficiency patients in order to establish the pathogenesis of such relationship. Four-hundred and thirty-three patients were analysed. Pica was studied by introducing certain diet queries into the clinical history. All patients received oral iron and were periodically controlled with the usual clinico-haematological procedures. Pica was present in 23 patients (5.3%). Eight nourishing (namely, coffee grains, almonds, chocolate, ice, lettuce, carrots, sunflower seeds and bread) and 2 non-nourishing (clay and paper) substances were involved. A second episode of pica appeared in 9 cases upon relapsing of iron deficiency. Both anaemia and pica were cured by etiologic and substitutive therapy in all instances. No clear correlation was found with either socio-economic status or pathogenetic causes of iron deficiency and pica, and no haematological differences were seen between patients with pica and those without this alteration. (1) The pathogenesis of pica is unclear, although it appears unrelated to the degree of iron deficiency. (2) According to the findings in this series, pica seems a consequence of iron deficiency rather than its cause. (3) Adequate therapy can cure both conditions, although pica may reappear upon relapse of iron deficiency.

  5. WERF Nutrient Challenge investigates limits of nutrient removal technologies.

    Science.gov (United States)

    Neethling, J B; Clark, D; Pramanik, A; Stensel, H D; Sandino, J; Tsuchihashi, R

    2010-01-01

    The WERF Nutrient Challenge is a multi-year collaborative research initiative established in 2007 to develop and provide current information about wastewater treatment nutrients (specifically nitrogen and phosphorus in wastewater), their characteristics, and bioavailability in aquatic environments to help regulators make informed decisions. The Nutrient Challenge will also provide data on nutrient removal so that treatment facilities can select sustainable, cost-effective methods and technologies to meet permit limits. To meet these goals, the Nutrient Challenge has teamed with a wide array of utilities, agencies, consultants, universities and other researchers and practitioners to collaborate on projects that advance these goals. The Nutrient Challenge is focusing on a different approach to collaborating and leveraging resources (financial and intellectual) on research projects by targeting existing projects and research that correspond with its goals and funding those aspects that the Nutrient Challenge identified as a priority. Because the Nutrient Challenge is focused on collaboration, outreach is an absolutely necessary component of its effectiveness. Through workshops, webinars, a web portal and online compendium, published papers, and conference lectures, the Nutrient Challenge is both presenting important new information, and soliciting new partnerships.

  6. Severe Hypothyroidism From Iodine Deficiency Associated With Parenteral Nutrition.

    Science.gov (United States)

    Golekoh, Marjorie C; Cole, Conrad R; Jones, Nana-Hawa Yayah

    2016-11-01

    Parenteral nutrition is crucial for supply of nutrients in children who cannot tolerate a full enteral diet. In the United States, it is not standard of care to give iodine to children dependent on parenteral nutrition, hence iodine is not routinely included in the micronutrient package. Herein, we present a case of a boy with hypothyroidism secondary to iodine deficiency after prolonged exclusive use of parenteral nutrition. Our case highlights the importance of screening for iodine deficiency and administering timely iodine supplementation in these at-risk children to prevent iatrogenic hypothyroidism. © 2015 American Society for Parenteral and Enteral Nutrition.

  7. Recent advances in modeling nutrient utilization in ruminants1

    NARCIS (Netherlands)

    Kebreab, E.; Dijkstra, J.; Bannink, A.; France, J.

    2009-01-01

    Mathematical modeling techniques have been applied to study various aspects of the ruminant, such as rumen function, post-absorptive metabolism and product composition. This review focuses on advances made in modeling rumen fermentation and its associated rumen disorders, and energy and nutrient

  8. 新疆阿克苏地区碘缺乏病综合干预效果追踪调查%A follow up observation of the effects of preventive measures on iodine deficiency disorders in Aksu, Xinjiang

    Institute of Scientific and Technical Information of China (English)

    朱艳艳; 李东阳; 廖飞; 阿不来提·阿不拉; 戴思芸; 阿依加马力·阿吾东; 钱明

    2016-01-01

    Objective To evaluate the iodine nutritional condition among populations in Aksu after implementing free iodized salt in population of Xinjiang.Methods According to the "National Iodine Deficiency Monitoring Programme (Revised)",totally 45 villages (towns) of subordinated 8 counties and Aksu City,Xinjiang were selected for collecting salt samples.Meanwhile,in 27 villages (towns) primary schools,school-aged children (8-10 years old) were selected for collecting disposable urine samples,B ultrasound was used to check thyroid volume and intelligence (IQ) was evaluated by China Combined Raven Test (CRT).Pregnant women were sampled for collecting their disposable urine near the primary schools.Both the children and pregnant women were evaluated the iodine deficiency disorders (IDD) knowledge awareness by questionnaire.The urine iodine concentration was measured by the ammonium persulfate digestion-As-Ce catalytic spectrophotometer method.The salt iodine concentration was measured by the direct titrimetric method,and other kinds of iodine in salt were measured by referee method (GB/T 13025.7-2012).Results A total of 2 700 household salt samples were collected,the average of iodine concentration in household salt was (26.95 ± 5.10) mg/kg.The coverage of household iodized salt was 98.56% (2 661/2 700).The coverage of edible iodized salt was 98.00% (2 646/2 700).A total of 2 159 urine samples were collected,the median of urine iodine concentration (UIC) among school-aged children (8-10 years old) was 235.50 μg/L.The total goiter rate was 1.51% (33/2 179) among children aged 8-10 years old.A total of 2 098 people were conducted IQ test,the average IQ was 88.03 ± 17.14.A total of 1 047 urine samples were collected,the median of UIC among pregnant women was 213.50 μg/L.The IDD knowledge awareness rate of children and women were 98.82% (751/760) and 99.23% (258/260),respectively.Conclusions The iodine nutrition is in an adequate range,awareness of IDD prevention

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... The Science Science Home Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart ... our role in research and clinical trials to improve health, and where to find more information. Causes ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Publications and Resources Health Education and Awareness The Science Science Home Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Topics A-Z Clinical Trials Publications and Resources Health Education and Awareness The Science Science Home Blood Disorders and Blood Safety Sleep Science and Sleep Disorders Lung Diseases Heart ...

  13. Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

    OpenAIRE

    Rush, Eric T; Hartmann, Julianne E; Skrabal, Jill C; Rizzo, William B

    2014-01-01

    Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the...

  14. Measuring nutrient spiralling in streams

    Energy Technology Data Exchange (ETDEWEB)

    Newbold, J D; Elwood, J W; O' Neill, R V; Van Winkle, W

    1981-01-01

    Nutrient cycling in streams involves some downstream transport before the cycle is completed. Thus, the path traveled by a nutrient atom in passing through the cycle can be visualized as a spiral. As an index of the spiralling process, we introduce spiralling length, defined as the average distance associated with one complete cycle of a nutrient atom. This index provides a measure of the utilization of nutrients relative to the available supply from upstream. Using /sup 32/p as a tracer, we estimated a spiralling length of 193 m for phosphorus in a small woodland stream.

  15. Nutrient intake amongst rural adolescent girls of Wardha

    Directory of Open Access Journals (Sweden)

    Maliye C

    2010-01-01

    Full Text Available Objective: To assess the nutrient intake of rural adolescent girls. Materials and Methods: The cross-sectional study was carried in four adopted villages of the Department of Community Medicine, M.G.I.M.S., Sewagram. A household survey was carried out in the villages. A list of all the adolescent girls in the age group of 10-19 years was prepared by enumeration through house-to-house visit. All adolescent girls were included in the study. A pre-designed and pre-tested questionnaire was used to collect data on socio-demographic variables and anthropometric variables. A 24 h recall method was used to assess nutrient intake. Data generated was entered and analyzed using epi_info 2000. Nutrient intake was compared with ICMR Recommended Dietary Allowances. Nutritional status was assessed by BMI for age. Results: The mean height of the adolescent girls was 142.9 cm. Overall, 57% of the adolescents were thin (BMI for age <5 th percentile for CDC 2000 reference and 43% of the adolescents were normal (BMI for age between 5 th - 85 th percentile for CDC 2000 reference. The average energy intake, which was 1239.6±176.4 kcal/day, was deficient of RDA by 39%. The average protein intake was 39.5±7 gm/day. It was deficient by 36% and the average iron intake, which was 13.2±2.5 mg/day, was deficient by 48%. Conclusion: The findings reiterate the dietary deficiency among adolescent girls which adversely affects the nutritional status. If the poor nutritional status is not corrected promptly before they become pregnant, it adversely affects the reproductive outcome. If we have to meet out the goals of Reproductive and Child Health Program, intervention strategies to improve the dietary intake of adolescent girls are needed so that their requirements of energy, protein, vitamins and minerals are met.

  16. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Gonzalez, Guido E. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departmento de Imagenes, Santiago (Chile); Nagao, Karina E.; Walton, David S. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Ophthalmology, Boston, MA (United States); Caruso, Paul A. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States)

    2009-10-15

    Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy. (orig.)

  17. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

    International Nuclear Information System (INIS)

    Small, Juan E.; Gonzalez, Guido E.; Nagao, Karina E.; Walton, David S.; Caruso, Paul A.

    2009-01-01

    Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy. (orig.)

  18. A dual porosity model of nutrient uptake by root hairs

    KAUST Repository

    Zygalakis, K. C.; Kirk, G. J. D.; Jones, D. L.; Wissuwa, M.; Roose, T.

    2011-01-01

    Summary: • The importance of root hairs in the uptake of sparingly soluble nutrients is understood qualitatively, but not quantitatively, and this limits efforts to breed plants tolerant of nutrient-deficient soils. • Here, we develop a mathematical model of nutrient uptake by root hairs allowing for hair geometry and the details of nutrient transport through soil, including diffusion within and between soil particles. We give illustrative results for phosphate uptake. • Compared with conventional 'single porosity' models, this 'dual porosity' model predicts greater root uptake because more nutrient is available by slow release from within soil particles. Also the effect of soil moisture is less important with the dual porosity model because the effective volume available for diffusion in the soil is larger, and the predicted effects of hair length and density are different. • Consistent with experimental observations, with the dual porosity model, increases in hair length give greater increases in uptake than increases in hair density per unit main root length. The effect of hair density is less in dry soil because the minimum concentration in solution for net influx is reached more rapidly. The effect of hair length is much less sensitive to soil moisture. © 2011 The Authors. New Phytologist © 2011 New Phytologist Trust.

  19. A dual porosity model of nutrient uptake by root hairs

    KAUST Repository

    Zygalakis, K. C.

    2011-08-09

    Summary: • The importance of root hairs in the uptake of sparingly soluble nutrients is understood qualitatively, but not quantitatively, and this limits efforts to breed plants tolerant of nutrient-deficient soils. • Here, we develop a mathematical model of nutrient uptake by root hairs allowing for hair geometry and the details of nutrient transport through soil, including diffusion within and between soil particles. We give illustrative results for phosphate uptake. • Compared with conventional \\'single porosity\\' models, this \\'dual porosity\\' model predicts greater root uptake because more nutrient is available by slow release from within soil particles. Also the effect of soil moisture is less important with the dual porosity model because the effective volume available for diffusion in the soil is larger, and the predicted effects of hair length and density are different. • Consistent with experimental observations, with the dual porosity model, increases in hair length give greater increases in uptake than increases in hair density per unit main root length. The effect of hair density is less in dry soil because the minimum concentration in solution for net influx is reached more rapidly. The effect of hair length is much less sensitive to soil moisture. © 2011 The Authors. New Phytologist © 2011 New Phytologist Trust.

  20. Isolated acquired factor VII deficiency: review of the literature.

    Science.gov (United States)

    Mulliez, Sylvie M N; Devreese, Katrien M J

    2016-04-01

    Isolated acquired factor VII (FVII) deficiency is a rare haemorrhagic disorder. We report what is currently known about the pathogenesis, clinical features, diagnosis, treatment and prognosis of acquired FVII deficiency. We performed a literature search and included all articles published between 1980 and August 2015. Acquired FVII deficiency has been reported in 42 patients. There are well-established clinical diseases associated with acquired FVII deficiency, most notably infections, malignancy and haematological stem cell transplantation. The exact pathogenesis of the diseases is still unknown, but different pathophysiological hypotheses have been suggested. The clinical manifestation of acquired FVII deficiency varies greatly in severity; asymptomatic course as well as severe life-threatening bleeding diathesis and fatal bleedings have been described.

  1. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

    International Nuclear Information System (INIS)

    Alangari, Abdullah; AlHarbi, Abdullah; AlGhonaium Abdulaziz; Santisteban, Ines; Hershfield, Michael

    2009-01-01

    Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT. Expression of PNP (146L) cDNA in E coli indicated that the mutation greatly reduced, but did not completely eliminate PNP activity. (author)

  2. Sleep Deficiency and Deprivation Leading to Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Michelle Kohansieh

    2015-01-01

    Full Text Available Sleep plays a vital role in an individual’s mental, emotional, and physiological well-being. Not only does sleep deficiency lead to neurological and psychological disorders, but also the literature has explored the adverse effects of sleep deficiency on the cardiovascular system. Decreased quantity and quality of sleep have been linked to cardiovascular disease (CVD risk factors, such as hypertension, obesity, diabetes, and dyslipidemia. We explore the literature correlating primary sleep deficiency and deprivation as a cause for cardiovascular disease and cite endothelial dysfunction as a common underlying mechanism.

  3. Antepartum Ornithine Transcarbamylase Deficiency

    Directory of Open Access Journals (Sweden)

    Hitoshi Nakajima

    2014-11-01

    Full Text Available Ornithine transcarbamylase deficiency (OTCD is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.

  4. Vitamin Excess and Deficiency.

    Science.gov (United States)

    Diab, Liliane; Krebs, Nancy F

    2018-04-01

    The published literature supports the high prevalence of supplement use in children and adolescents in the United States. Pediatricians today are faced with questions from parents and patients about the benefits, safety, efficacy, and correct dose of vitamins and minerals. In this article, we review 7 vitamins with the most clinical relevance as judged by abundance in food, risks and symptoms of deficiency, and potential for toxicity. Specifically, we focus on possible clinical scenarios that can be indicative of nutritional deficiency. We synthesize and summarize guidelines from nutrition experts, various medical societies, the World Health Organization, and the American Academy of Pediatrics. © American Academy of Pediatrics, 2018. All rights reserved.

  5. Impact of neonatal iron deficiency on hippocampal DNA methylation and gene transcription in a porcine biomedical model of cognitive development

    NARCIS (Netherlands)

    Schachtschneider, Kyle M.; Liu, Yingkai; Rund, Laurie A.; Madsen, Ole; Johnson, Rodney W.; Groenen, Martien A.M.; Schook, Lawrence B.

    2016-01-01


    Background

    Iron deficiency is a common childhood micronutrient deficiency that results in altered hippocampal function and cognitive disorders. However, little is known about the mechanisms through which neonatal iron deficiency results in long lasting alterations in hippocampal gene

  6. The Nutrient Density of Snacks

    Directory of Open Access Journals (Sweden)

    Julie Hess BA

    2017-03-01

    Full Text Available Background: Although Americans receive almost a quarter of their daily energy from snacks, snacking remains a poorly defined and understood eating occasion. However, there is little dietary guidance about choosing snacks. Families, clinicians, and researchers need a comprehensive approach to assessing their nutritional value. Objective: To quantify and compare the nutrient density of commonly consumed snacks by their overall nutrient profiles using the Nutrient-Rich Foods (NRF Index 10.3. Methods: NRF Index scores were calculated for the top 3 selling products (based on 2014 market research data in different snack categories. These NRF scores were averaged to provide an overall nutrient-density score for each category. Results: Based on NRF scores, yogurt (55.3, milk (52.5, and fruit (30.1 emerged as the most nutrient-dense snacks. Ice cream (−4.4, pies and cakes (−11.1, and carbonated soft drinks (−17.2 emerged as the most nutrient-poor snacks. Conclusions: The NRF Index is a useful tool for assessing the overall nutritional value of snacks based on nutrients to limit and nutrients to encourage.

  7. Nutrient management in substrate systems

    NARCIS (Netherlands)

    Sonneveld, C.; Voogt, W.

    2009-01-01

    Speaking about nutrient solutions in soilless cultivation, different solutions can be discerned. Originally, in soilless culture only one nutrient solution was taken into account, being the solution in the containers in which the plants were grown. Such solutions were intensively moved by air

  8. Fisheries management under nutrient influence

    DEFF Research Database (Denmark)

    Hammarlund, Cecilia; Nielsen, Max; Waldo, Staffan

    2018-01-01

    A fisheries management model that identifies the economic optimal management of fisheries under the influence of nutrients is presented. The model starts from the idea that growth in fish biomass increases with increasing availability of nutrients owing to higher food availability up to a peak...

  9. What Is Combined Deficiency of Vitamin K-Dependent Clotting Factors?

    Science.gov (United States)

    ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ... Deficiency Factor V Deficiency Combined FV & FVIII Deficiencies Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor ...

  10. Diagnosis, Treatment and Follow-Up in Four Children with Biotinidase Deficiency from Pakistan

    International Nuclear Information System (INIS)

    Afroze, B.; Wasay, M.

    2013-01-01

    Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan. (author)

  11. Phloem small RNAs, nutrient stress responses, and systemic mobility

    Directory of Open Access Journals (Sweden)

    Kehr Julia

    2010-04-01

    Full Text Available Abstract Background Nutrient availabilities and needs have to be tightly coordinated between organs to ensure a balance between uptake and consumption for metabolism, growth, and defense reactions. Since plants often have to grow in environments with sub-optimal nutrient availability, a fine tuning is vital. To achieve this, information has to flow cell-to-cell and over long-distance via xylem and phloem. Recently, specific miRNAs emerged as a new type of regulating molecules during stress and nutrient deficiency responses, and miR399 was suggested to be a phloem-mobile long-distance signal involved in the phosphate starvation response. Results We used miRNA microarrays containing all known plant miRNAs and a set of unknown small (s RNAs earlier cloned from Brassica phloem sap 1, to comprehensively analyze the phloem response to nutrient deficiency by removing sulfate, copper or iron, respectively, from the growth medium. We show that phloem sap contains a specific set of sRNAs that is distinct from leaves and roots, and that the phloem also responds specifically to stress. Upon S and Cu deficiencies phloem sap reacts with an increase of the same miRNAs that were earlier characterized in other tissues, while no clear positive response to -Fe was observed. However, -Fe led to a reduction of Cu- and P-responsive miRNAs. We further demonstrate that under nutrient starvation miR399 and miR395 can be translocated through graft unions from wild type scions to rootstocks of the miRNA processing hen1-1 mutant. In contrast, miR171 was not transported. Translocation of miR395 led to a down-regulation of one of its targets in rootstocks, suggesting that this transport is of functional relevance, and that miR395, in addition to the well characterized miR399, could potentially act as a long-distance information transmitter. Conclusions Phloem sap contains a specific set of sRNAs, of which some specifically accumulate in response to nutrient deprivation. From

  12. Dietary adequacy of Egyptian children with autism spectrum disorder compared to healthy developing children.

    Science.gov (United States)

    Meguid, Nagwa A; Anwar, Mona; Bjørklund, Geir; Hashish, Adel; Chirumbolo, Salvatore; Hemimi, Maha; Sultan, Eman

    2017-04-01

    Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking. The present study aimed at comparing dietary regimens and habits of normally developing apparently healthy children, without diagnosed ASD, with a pediatric population of individuals affected by autistic disorder. Assessments of nutritional and anthropometric data, in addition to biochemical evaluation for nutrient deficiencies, were performed. A total of 80 children with autistic disorder and 80 healthy, normally developing pediatric individuals were enrolled in the study. Parents were asked to complete the standardized questionnaire regarding the different types of food and the proportion of a serving for their children. Biochemical analysis of micro- and macronutrients were also done. Plotting on the Egyptian sex-specific anthropometric growth (auximetric) chart, absolute weights as well as weight-related for age classes, were significantly higher in cases than healthy controls. No differences between groups were observed in regard to total kilocalories (kcal), carbohydrates, and fat intake. A total of 23.8% of children with autistic disorder vs. 11.3% in the healthy control group had a nutrient intake with features below the Recommended Dietary Allowance (RDA) of protein. Children with autistic disorder showed low dietary intake of some micronutrients; calcium (Ca), magnesium (Mg), iron (Fe), selenium (Se) and sodium (Na), also they had significantly high intake of potassium (K) and vitamin C compared to healthy

  13. Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    E. A. Nikolaeva

    2015-01-01

    Full Text Available The term phenylketonuria encompasses some genetically heterogeneous diseases from a group of hereditary amino acid metabolic disorders, the key biochemical sign of which is a steady increase in blood phenylalanine levels – hyperphenylalaninemia. Phenylketonuria is a most common disease of the above group; its rate in the Russian Federation is 1:7140 neonates. The rare causes of hyperphenylalaninemia include the cofactor (biopterin-deficient forms associated with tetrahydrobiopterin deficiency, leading to the blocked metabolic pathways for converting phenylalanine to tyrosine and for synthesizing catecholamine and serotonin precursors (L-dopa and 5-hydroxytryptophan. The distinguishing feature of all cofactor forms of hyperphenylalaninemia is the inefficiency of an isolated low-protein diet. Cofactor therapy with sapropterin in combination with correction of neuromediatory disorders is used in the combination treatment of these patients. The paper presents a case history of a child with severe biopterin-deficient hyperphenylalaninemia resulting from a defect in the PTS gene. The clinical example illustrates difficulties associated with the diagnosis of cofactor hyperphenylalaninemia and with long individual dosage adjustments for medications. 

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... grams per deciliter (g/dl) for men and less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, ... blood levels of iron will be low, or less than 10 micromoles per liter (mmol/L) for both men and women. Normal levels are 10 to 30 mmol/L. ...

  15. Alpha1-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Stolk, Jan; Seersholm, Niels; Kalsheker, Noor

    2006-01-01

    The Alpha One International Registry (AIR), a multinational research program focused on alpha1-antitrypsin (AAT) deficiency, was formed in response to a World Health Organization recommendation. Each of the nearly 20 participating countries maintains a national registry of patients with AAT defic...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... is blood loss during dialysis. People who have chronic kidney disease also often take other medicines—such as proton ... reduces iron absorption. Other treatments If you have chronic kidney disease and iron-deficiency anemia, your doctor may recommend ...

  17. Vitamin B12 deficiency

    Science.gov (United States)

    Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, sub...

  18. Leukocyte adhesion deficiencies

    NARCIS (Netherlands)

    van de Vijver, Edith; van den Berg, Timo K.; Kuijpers, Taco W.

    2013-01-01

    During inflammation, leukocytes play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. Leukocyte adhesion deficiencies (ie,

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron supplements work best to treat iron-deficiency anemia in children who do not consume the daily recommended amount ... and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical ... Anemia Arrhythmia Blood Donation Blood Tests Blood ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Working at the NHLBI Contact and FAQs Accessible Search Form Search the NHLBI, use the drop down list to ... treatment of blood diseases, including iron-deficiency anemia. Search the NIH Research Portfolio Online Reporting Tools (RePORT) ...