deficiency diseases

Summary

Summary: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)

Top Publications

  1. ncbi Iodine deficiency, iodine content of salt and knowledge of iodine supplementation in the Dominican Republic
    T Malasanos
    J Trop Pediatr 53:214-6. 2007
  2. ncbi MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency
    P J Wightman
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mutat 22:288-300. 2003
  3. ncbi Assessment of iodine status using dried blood spot thyroglobulin: development of reference material and establishment of an international reference range in iodine-sufficient children
    Michael B Zimmermann
    Laboratory for Human Nutrition, Swiss Federal Institute of Technology, LFV E19, Schmelzbergstrasse 7, CH 8092 Zurich, Switzerland
    J Clin Endocrinol Metab 91:4881-7. 2006
  4. ncbi Effect of Brazil nut supplementation on the blood levels of selenium and glutathione peroxidase in hemodialysis patients
    M B Stockler-Pinto
    University of Sao Paulo, Faculty of Pharmaceutical Sciences, Sao Paulo, Brazil
    Nutrition 26:1065-9. 2010
  5. ncbi Nutritional deficiencies in morbidly obese patients: a new form of malnutrition? Part B: minerals
    Orit Kaidar-Person
    The Bariatric and Metabolic Institute, Section of Minimally Invasive and Endoscopic Surgery, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL 33331, USA
    Obes Surg 18:1028-34. 2008
  6. ncbi Conclusions of the Joint WHO/UNICEF/IAEA/IZiNCG Interagency Meeting on Zinc Status Indicators
    Bruno de Benoist
    Department of Nutrition for Health and Development, World Health Organization, Geneva
    Food Nutr Bull 28:S480-4. 2007
  7. ncbi Kenyan school children have multiple micronutrient deficiencies, but increased plasma vitamin B-12 is the only detectable micronutrient response to meat or milk supplementation
    Jonathan H Siekmann
    Program in International Nutrition, University of California, Davis, CA 95616, USA
    J Nutr 133:3972S-3980S. 2003
  8. ncbi Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Esther M Maier
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 25:443-52. 2005
  9. ncbi Assessment of the trace element status of individuals and populations: the example of zinc and copper
    Christine Hotz
    Centro de Investigación en Nutrición y Salud, Instituto Nacional de Salud Publica, Cuernavaca, Morelos, Mexico
    J Nutr 133:1563S-8S. 2003
  10. ncbi [Prevention and treatment of deficiency diseases with milk and dairy products]
    Charles Joël Menkes
    Académie nationale de médecine
    Bull Acad Natl Med 192:739-47. 2008

Research Grants

  1. ANALYSIS AND MODULATION OF IMMUNITY IN GENE THERAPY
    Paula Clemens; Fiscal Year: 2003
  2. Cellular &Molecular Defects in Human B Cell Development
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
  3. Role of LHX3 Protein Isoforms in Pituitary Development
    SIMON JAMES RHODES; Fiscal Year: 2012
  4. Bone Marrow Transplant Clinical Network
    Edward A Stadtmauer; Fiscal Year: 2010
  5. Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
  6. In-vivo miRNA Detection Using Structurally Interacting RNA (sxRNA)
    Scott A Tenenbaum; Fiscal Year: 2011
  7. LINGUAL SEROUS GLANDS--REGULATION OF ENZYME SECRETION
    RUTH FIELD; Fiscal Year: 1992
  8. BONE MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS
    Chester Whitley; Fiscal Year: 1993
  9. 2nd North American meeting by CIS devoted to primary immune deficiency.
    Charlotte Cunningham-Rundles; Fiscal Year: 2012
  10. BIOCHEMICAL BASIS OF SULFATASE ACTIVITY
    ALLEN HORWITZ; Fiscal Year: 1992

Detail Information

Publications253 found, 100 shown here

  1. ncbi Iodine deficiency, iodine content of salt and knowledge of iodine supplementation in the Dominican Republic
    T Malasanos
    J Trop Pediatr 53:214-6. 2007
  2. ncbi MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency
    P J Wightman
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mutat 22:288-300. 2003
    ..As none of the three mislocalizing mutations are predicted to alter the catalytic function of the peptide, it seems likely that correct subcellular localization of MLYCD is critical for it to function normally...
  3. ncbi Assessment of iodine status using dried blood spot thyroglobulin: development of reference material and establishment of an international reference range in iodine-sufficient children
    Michael B Zimmermann
    Laboratory for Human Nutrition, Swiss Federal Institute of Technology, LFV E19, Schmelzbergstrasse 7, CH 8092 Zurich, Switzerland
    J Clin Endocrinol Metab 91:4881-7. 2006
    ..Thyroglobulin (Tg) may be a valuable indicator of improving thyroid function in children after salt iodization. A recently developed Tg assay for use on dried whole blood spots (DBS) makes sampling practical, even in remote areas...
  4. ncbi Effect of Brazil nut supplementation on the blood levels of selenium and glutathione peroxidase in hemodialysis patients
    M B Stockler-Pinto
    University of Sao Paulo, Faculty of Pharmaceutical Sciences, Sao Paulo, Brazil
    Nutrition 26:1065-9. 2010
    ..We evaluated the effect of Brazil nut supplementation on blood levels of Se and glutathione peroxidase (GSH-Px) activity in patients on hemodialysis...
  5. ncbi Nutritional deficiencies in morbidly obese patients: a new form of malnutrition? Part B: minerals
    Orit Kaidar-Person
    The Bariatric and Metabolic Institute, Section of Minimally Invasive and Endoscopic Surgery, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL 33331, USA
    Obes Surg 18:1028-34. 2008
    ..In this review, we examine the prevalence and manifestations of various mineral deficiencies in obese patients...
  6. ncbi Conclusions of the Joint WHO/UNICEF/IAEA/IZiNCG Interagency Meeting on Zinc Status Indicators
    Bruno de Benoist
    Department of Nutrition for Health and Development, World Health Organization, Geneva
    Food Nutr Bull 28:S480-4. 2007
    ..The prevalence of low serum zinc and inadequate zinc intakes may be used to evaluate their impact on the target population's zinc status...
  7. ncbi Kenyan school children have multiple micronutrient deficiencies, but increased plasma vitamin B-12 is the only detectable micronutrient response to meat or milk supplementation
    Jonathan H Siekmann
    Program in International Nutrition, University of California, Davis, CA 95616, USA
    J Nutr 133:3972S-3980S. 2003
    ..Supplementation with small amounts of meat or milk reduced the high prevalence of vitamin B-12 deficiency in these children...
  8. ncbi Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Esther M Maier
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 25:443-52. 2005
    ..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening...
  9. ncbi Assessment of the trace element status of individuals and populations: the example of zinc and copper
    Christine Hotz
    Centro de Investigación en Nutrición y Salud, Instituto Nacional de Salud Publica, Cuernavaca, Morelos, Mexico
    J Nutr 133:1563S-8S. 2003
    ..Because relatively little information is available on zinc toxicity, the discussion concerning the definition of excess intake of trace elements focused primarily on recent work concerning risk assessment of copper toxicity...
  10. ncbi [Prevention and treatment of deficiency diseases with milk and dairy products]
    Charles Joël Menkes
    Académie nationale de médecine
    Bull Acad Natl Med 192:739-47. 2008
    ..Calcium and vitamin D should be systematically added to treatments for patients with established osteoporosis and for those with risk factors...
  11. ncbi Spot urinary iodine concentration as a measure of dietary iodine, evaluated in over 3800 young male subjects undergoing medical check-up preliminary to military enrolment in Piemonte and Aosta Valley (Italy)
    D Fonzo
    Regional Centre for Thyroid Diseases, Department of Endocrinology, Ospedale Mauriziano Umberto I, Torino, Italy
    J Endocrinol Invest 26:1186-91. 2003
    ..Further population studies are required...
  12. ncbi Thyroid volume in children: role of iodine intake
    P Vitti
    J Endocrinol Invest 25:666-7. 2002
  13. pmc Determining median urinary iodine concentration that indicates adequate iodine intake at population level
    Francois Delange
    International Council for Control of Iodine Deficiency Disorders, Brussels, Belgium
    Bull World Health Organ 80:633-6. 2002
    ..The study was carried out to determine the frequency distribution of urinary iodine in iodine-replete populations (schoolchildren and adults) and the proportion of concentrations <50 micro g/l...
  14. ncbi Double fortified salt at crossroads
    B Sivakumar
    Division of Biophysics, National Institute of Nutrition ICMR, Jamai Osmania, Hyderabad, India
    Indian J Pediatr 69:617-23. 2002
    ....
  15. ncbi Sustainable control of iodinedeficiency in Iran: beneficial results of the implementation of the mandatory law on salt iodization
    F Azizi
    Endocrine Research Center, Shaheed Beheshti, University of Medical Sciences, Tehran, I R Iran
    J Endocrinol Invest 25:409-13. 2002
    ....
  16. ncbi The elimination of iodine deficiency in the Czech Republic: the steps toward success
    V Zamrazil
    Institute of Endocrinology, Prague, Czech Republic
    Thyroid 14:49-56. 2004
    ..Neonatal thyroid screening could constitute the major monitoring tool in order to insure sustainable elimination of iodine deficiency in the Czech Republic...
  17. ncbi Current status of iodine deficiency disorders (IDD) and strategy for its control in India
    Sheila C Vir
    UNICEF India Country Office, Lucknow Field Office
    Indian J Pediatr 69:589-96. 2002
    ..A two pronged strategy needs to be institutionalized for ensuring continued demand for iodised salt, linked to ongoing health, nutrition and education programmes as well as for ensuring supply of quality iodised salt...
  18. ncbi Iron, zinc and iodide status in Mexican children under 12 years and women 12-49 years of age. A probabilistic national survey
    Salvador Villalpando
    Centro de Investigación en Nutrición y Salud, Instituto Nacional de Salud Publica, Cuernavaca Morelos, Mexico
    Salud Publica Mex 45:S520-9. 2003
    ..To describe the epidemiology of iron, zinc and iodide deficiencies in a probabilistic sample of Mexican women and children and explore its association with some dietary and socio-demographic variables...
  19. ncbi Nutritional status of indigenous children at boarding schools in northern Mexico
    J Monárrez-Espino
    Department of Women s and Children s Health, Uppsala University, Sweden
    Eur J Clin Nutr 58:532-40. 2004
    ..To assess the nutritional status of Tarahumara children at indigenous boarding schools...
  20. ncbi Micronutrients and genomic stability: a new paradigm for recommended dietary allowances (RDAs)
    M Fenech
    CSIRO Health Sciences and Nutrition, PO Box 10041, Gouger Street, BC, SA, 5000, Adelaide, Australia
    Food Chem Toxicol 40:1113-7. 2002
    ..That there is a need for an international collaborative effort to establish RDAs for genomic stability is self-evident...
  21. pmc Eliminating iodine deficiency disorders--the role of the International Council in the global partnership
    Basil S Hetzel
    Children s Health Development Foundation, International Council for Control of Iodine Deficiency Disorders, Australia
    Bull World Health Organ 80:410-3; discussion 413-7. 2002
    ..It is now a multidisciplinary network of 600 professionals in 100 countries...
  22. ncbi Relations between various measures of iodine intake and thyroid volume, thyroid nodularity, and serum thyroglobulin
    Lone B Rasmussen
    Institute of Food Research and Nutrition, The Danish Veterinary and Food Administration, Søborg, Denmark
    Am J Clin Nutr 76:1069-76. 2002
    ..Iodine intake can be measured in various ways, and each method may have advantages and disadvantages...
  23. ncbi Iodine and/or selenium deficiency alters tissue distribution pattern of other trace elements in rats
    Belma Giray
    Department of Toxicology, Faculty of Pharmacy, Hacettepe University, Ankara, Turkey
    Biol Trace Elem Res 95:247-58. 2003
    ..The results of this study indicated that iodine and/or selenium deficiency may modify the distribution and the homeostasis of other minerals...
  24. pmc Assessment of the iodine concentration in table salt at the production stage in South Africa
    Pieter L Jooste
    Nutritional Intervention Research Unit, Medical Research Council, Cape Town, South Africa
    Bull World Health Organ 81:517-21. 2003
    ....
  25. ncbi Prevalence and risk factors of iodine deficiency among schoolchildren
    Emel Gur
    Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Turkey
    J Trop Pediatr 49:168-71. 2003
    ..As there seems to be no effect from the use of iodized salt in iodine deficiency, the use of a more stable potassium iodate for the fortification of salt may be required...
  26. ncbi [Iodine nutritional status and risk factors for iodine deficiency in infants and children of the french North department]
    G Pouessel
    Unité de Gastro Entérologie, Hepatologie et nutrition, Clinique de Pediatrie, Hopital Jeanne de Flandre, 2, Avenue Oscar Lambret, 59037 Lille Cedex, France
    Arch Pediatr 10:96-101. 2003
    ..Iodine deficiency is responsible for a higher mortality and morbidity in neonates and infants. It has not yet disappeared in European countries, especially in Southern and Eastern Europe...
  27. ncbi Influence of iodine deficiency and iodine prophylaxis on thyroid cancer histotypes and incidence in endemic goiter area
    B Huszno
    Department of Endocrinology, Jagiellonian University, Collegium Medicum, Krakow, Poland
    J Endocrinol Invest 26:71-6. 2003
    ..The significant difference between IR of thyroid cancer incidence in the districts of Krakow and Nowy Sacz may be related to differences in the exposure to radiation after the Chernobyl accident...
  28. ncbi Improvement of iodine deficiency after iodine supplementation in schoolchildren of Azerbaijan was accompanied by hypo and hyperthyrotropinemia and increased title of thyroid autoantibodies
    K B Markou
    Department of Medicine, Division of Endocrinology, University of Patras Medical School, University Hospital, Patras, Greece
    J Endocrinol Invest 26:43-8. 2003
    ..The aim of the present study was to evaluate the efficacy, the benefits, as well as the possible side-effects in a follow-up period of 6 and 12 months after the initial administration of iodized oil...
  29. ncbi Iodine deficiency disorders in the Saratov province in Russia
    M Svinaryov
    Department of Endocrinology, Regional Child Hospital, Saratov, Russia
    J Endocrinol Invest 26:16-9. 2003
    ..The work deals with epidemiology of iodine deficiency (ID) in the Saratov province in Russia, with clinical data and thyroid autoimmunity disorders in schoolchildren living in a moderate ID area...
  30. ncbi Correction of iodine deficiency in Macedonia
    B Karanfilski
    Institute of Pathophysiology and Nuclear Medicine, Medical Faculty, St Cyril and Methody University, Skopje, Macedonia
    J Pediatr Endocrinol Metab 16:1041-5. 2003
    ..The new regime of salt iodination was proved to be highly effective in correcting the iodine deficiency in Macedonia...
  31. ncbi Bioavailability of iron, zinc, folate, and vitamin C in the IRIS multi-micronutrient supplement: effect of combination with a milk-based cornstarch porridge
    Fernanda Kamp
    Laboratorio de Bioquimica Nutricional e de Alimentos, Instituto de Quimica, Universidade Federal in Rio de Janeiro, Brazil
    Food Nutr Bull 24:S20-6. 2003
    ..Therefore, the tested meal is a suitable vehicle for the multi-micronutrient supplement...
  32. ncbi Insulin-like growth factor-I and insulin-like growth factor binding protein-3 levels of children living in an iodine- and selenium-deficient endemic goiter area
    Kursad Aydin
    Department of Pediatrics, Selcuk University Medical Faculty, Konya, Turkey
    Biol Trace Elem Res 90:25-30. 2002
    ..These results suggest that IGF-I and IGFBP-3 levels are affected by thyroid dysfunction as a result of iodine and selenium deficiency. However, IGF-I and IGFBP-3 levels are not associated with goiter...
  33. ncbi The evolving applications of spreads as a FOODlet for improving the diets of infants and young children
    Andre Briend
    Institut de Recherche pour le Developpement, Institut des Sciences et Techniques de la Nutrition et de l Alimentation, Paris, France
    Food Nutr Bull 24:S34-8. 2003
    ....
  34. ncbi [What is possible, now and right]
    Rodrigo Fierro-Benítez
    Rev Panam Salud Publica 12:301-4. 2002
  35. ncbi [Iodine deficiency exists in many European countries but not in Finland]
    Bror Axel Lamberg
    Duodecim 119:1639-42. 2003
  36. ncbi Chernobyl and iodine deficiency in the Russian Federation: an environmental disaster leading to a public health opportunity
    Richard J Jackson
    National Center for Environmental Health, Centers for Disease Control and Prevention, 4770 Buford Highway, NE Mail Stop F 29, Atlanta, Georgia 30341 3717, USA
    J Public Health Policy 23:453-70. 2002
    ..The full realization of this goal will require more time for education, marketing, and possibly legislative action...
  37. ncbi [Iodocasein in the prophylaxis of iodine deficiency in servicemen]
    A L Rakov
    Voen Med Zh 324:37-40, 80. 2003
    ..After the initial examination the persons from the main group were given iodized bread during 9 months. The monitoring results have confirmed the efficiency of iodine prophylaxis with the use iodcasein...
  38. ncbi Successful struggle against iodine deficiency disorders (I.D.D.) in Croatia
    Z Kusic
    Department of Nuclear Medicine and Oncology, University Hospital Sestre Milosrdnice, Zagreb, Croatia
    Coll Antropol 21:499-506. 1997
    ..Control of salt produced in Pag revealed the average KI value of 8.3 mg/kg. On the basis of these results Croatian Ministry of Health proclaimed, on October 9, 1996, a new regulation requiring 25 mg KI in each kg of NaCl...
  39. ncbi Thyroid autoantibodies in women with and without thyroid disorders in an iodine-replete area
    A Aminorroaya
    Isfahan Endocrine and Metabolism Research Centre, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran
    East Mediterr Health J 14:325-32. 2008
    ..5% of patients with hypothyroidism, 73.6% of those with hyperthyroidism, 48.9% of those with simple goitre and 35.8% of the control group (P < 0.001). Autoimmunity may have a role in the genesis of common thyroid disorders...
  40. ncbi The evaluation of the iodine content of table salt in Lesotho
    Masekonyela L D Sebotsa
    Food and Nutrition Coordinating Office, P Bag A78, Maseru, Lesotho
    Afr J Health Sci 9:139-45. 2002
    ..81.8% of the households use adequately iodised salt. This however does not meet WHO criteria for elimination of IDD as a public health problem since less than 90% of effectively iodised salt is being used at household level...
  41. ncbi Pilot study: tendency of increasing iodine content in human milk and cow's milk
    N Bader
    Institute of Nutrition, Friedrich Schiller University Jena, Jena, Germany
    Exp Clin Endocrinol Diabetes 113:8-12. 2005
    ..There was no difference in the human milk iodine content between mothers taking supplements and those who did not. Cow's milk samples showed a mean iodine concentration of 178 +/- 131 microg/l (range 48 - 661 microg/l)...
  42. pmc Validation of spot-testing kits to determine iodine content in salt
    C S Pandav
    Clinical Epidemiology Unit CEU, All India Institute of Medical Sciences, New Delhi, India
    Bull World Health Organ 78:975-80. 2000
    ..Therefore, we conclude that until a valid alternative is available, the titration method should be used for monitoring the iodine content of salt at all levels, from producer to consumer, to ensure effectiveness of the programme...
  43. pmc Perspectives from micronutrient malnutrition elimination/eradication programmes
    B A Underwood
    Institute of Medicine, National Academy of Sciences, Washington, DC 20418, USA
    Bull World Health Organ 76:34-7. 1998
    ....
  44. pmc Candidate noninfectious disease conditions
    D Alnwick
    Health Section, United Nations Children s Fund UNICEF, New York City, New York, USA
    Bull World Health Organ 76:55-60. 1998
    ..These same approaches, if successful, could be used to tackle other important micronutrient deficiencies...
  45. ncbi Persistent iodine deficiency in a cohort of Tasmanian school children: associations with socio-economic status, geographical location and dietary factors
    Kristen L Hynes
    Menzies Research Institute, University of Tasmania
    Aust N Z J Public Health 28:476-81. 2004
    ..To determine the adequacy of iodine nutrition of Tasmanian primary school-aged children and to examine possible associations with socio-economic status (SES), location and dietary factors...
  46. ncbi Multiple approaches to micronutrient deficiency in developing countries
    K Nagati
    Tunis Imm Touta Esc Ab Menzah iv, Tunisia
    Forum Nutr 56:282-3. 2003
  47. ncbi [Effect of chronic mild and moderate iodine excess on thyroid anti-oxidative ability of iodine deficiency and non-iodine deficiency Wistar rats]
    Nuo Zhang
    Department of Endocrinology, First Affiliated Hospital, China Medical University, Shenyang 110001, China
    Zhonghua Yi Xue Za Zhi 86:1274-8. 2006
    ..To investigate the effects of chronic mild and moderate iodine excess on thyroid oxidative injury and anti-oxidative ability of iodine deficiency and non-iodine deficiency Wistar rats...
  48. ncbi Determination of iodine nutrition and community knowledge regarding iodine deficiency disorders in selected tribal blocks of Orissa, India
    G Bulliyya
    Regional Medical Research Centre, Indian Council of Medical Research, Chandrasekharpur, Bhubaneswar, India
    J Pediatr Endocrinol Metab 21:79-87. 2008
    ..To determine the status of iodine nutrition and knowledge of iodine deficiency disorders (IDD) in selected tribal mountainous blocks of Orissa, India...
  49. ncbi Micronutrient deficiencies and gender: social and economic costs
    Ian Darnton-Hill
    UNICEF Nutrition Section and Institute of Human Nutrition, Columbia
    Am J Clin Nutr 81:1198S-1205S. 2005
    ....
  50. ncbi A case for universal salt iodisation to correct iodine deficiency in pregnancy: another salutary lesson from Tasmania
    John R Burgess
    Royal Hobart Hospital, Hobart, TAS
    Med J Aust 186:574-6. 2007
    ..To assess the impact of iodine fortification of bread on the iodine status of pregnant women, and to determine if studies of iodine levels in school-age children were indicative of women's gestational iodine status...
  51. ncbi A field survey of iodine supplementation of primary school children and their parents in a rural village in the endemic area of iodine deficiency disorder, northeastern Thailand
    Viroj Wiwanitkit
    Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn, Bangkok, Thailand
    Rural Remote Health 7:599. 2007
    ....
  52. ncbi Iodine deficiency: an important and severe public health problem in Kayseri, Central Anatolia
    N Budak
    University of Erciyes Rectorate, 38039 Kayseri, Turkey
    J Endocrinol Invest 30:920-4. 2007
    ..The local "Iodine Monitoring Committee" developed an action plan including information/education/ communication activities to sustain monitoring so as to increase the inclusion of iodized salt in the region...
  53. ncbi Profile of iodine content of salt and urinary iodine excretion levels in selected districts of Tamil Nadu
    Umesh Kapil
    Department of Human Nutrition, All India Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 71:785-7. 2004
    ....
  54. ncbi Supplementation of algae to the diet of pigs: a new possibility to improve the iodine content in the meat
    M L He
    Institute for Physiology, Physiological Chemistry and Animal Nutrition, University of Munich, Munich, Germany
    J Anim Physiol Anim Nutr (Berl) 86:97-104. 2002
    ..05). It is suggested that the carry-over of iodine through feeding pigs with an algae-supplemented feed could be beneficial to both the control of IDD and the improvement of pig production...
  55. pmc Micronutrients in health and disease
    A Shenkin
    Division of Clinical Chemistry, University of Liverpool, Liverpool L69 3GA, UK
    Postgrad Med J 82:559-67. 2006
    ..More clinical trials are required with good clinical outcomes to optimise intake in prevention and treatment of disease...
  56. ncbi [Assessment of iodine content of dietary salt in Abidjan (Côte d'Ivoire)]
    Pierre Adou
    Laboratoire de Nutrition, Institut National de Santé Publique, BP V 47, Abidjan, Cote d Ivoire
    Sante 12:18-21. 2002
    ..From this arises the need for setting up an effective system of controlling the iodine content in dietary salt to continuously adjust it, taking into consideration the minimum needs of the population...
  57. ncbi An assessment of urinary and breast milk iodine concentrations in lactating mothers from Gorgan, Iran, 2003
    Hamid R Bazrafshan
    Gorgan Faculty of Medicine, Golestan University of Medical Sciences, Iran
    Thyroid 15:1165-8. 2005
    ..44, p < 0.0001). Iodine deficiency and goiter were associated (p < 0.0001). UIC and MIC concentrations are sufficient in Gorgan, Iran. However, individual infants remain at risk for low iodine intake via breast milk...
  58. ncbi [Iodine deficiency: current situation and future prospects]
    Bruno de Benoist
    Département de nutrition pour la santé et le développement, Organisation mondiale de la Sante, CH 1211 Genève 27, Suisse
    Sante 12:9-17. 2002
    ..In order to reach the goal of IDD elimination, it is important to insist on the sustainability of salt iodisation programmes, which implies an increased commitment of both health authorities and representatives of the salt industry...
  59. ncbi Iodine supplementation of pregnant women in Europe: a review and recommendations
    M Zimmermann
    Laboratory for Human Nutrition, Institute of Food Science and Nutrition, Swiss Federal Institute of Technology, Ruschlikon, Zurich, Switzerland
    Eur J Clin Nutr 58:979-84. 2004
    ..The objective of this review was to examine the iodine status of pregnant women in Europe and the potential need for iodine supplementation...
  60. ncbi Iodine concentration in salt at household and retail shop levels in Shebe town, south west Ethiopia
    L Takele
    South People Nations and Nationalities People s Regional Health Bureau, Jimma, Ethiopia
    East Afr Med J 80:532-9. 2003
    ..To determine the level of iodine in the salt at the retail shop and consumption levels and assess the knowledge, attitude and practice (KAP) of food caterers and shopkeepers about iodized salt and iodine deficiency disorders (IDD)...
  61. ncbi [Neonatal thyrotropinemia (TSH) as an indicator of iodine nutritional level in Castellon and Valencia, Spain (2004-2006)]
    Carmen Barona-Vilar
    Servici de Salut Infantil i de la Dona, Direcció General de Salut Pública, Conselleria de Sanitat, Generalitat Valenciana, C Micer Mascó 31, Valencia, Spain
    Rev Esp Salud Publica 82:405-13. 2008
    ....
  62. ncbi Functional dichotomy: glutathione and vitamin E in homeostasis relevant to primary open-angle glaucoma
    John Veach
    Br J Nutr 91:809-29. 2004
    ..POAG is not believed to be a 'vitamin-deficiency disease'. The concept of 'vitamin-deficiency diseases' and the recommended daily allowances have not kept pace with the growing understanding of the cellular and ..
  63. ncbi Meeting the challenges of micronutrient deficiencies in emergency-affected populations
    Z Weise Prinzo
    Department of Nutrition for Health and Development, World Health Organization, 1211 Geneva 27, Switzerland
    Proc Nutr Soc 61:251-7. 2002
    Micronutrient deficiencies occur frequently in refugee and displaced populations. These deficiency diseases include, in addition to the most common Fe and vitamin A deficiencies, scurvy (vitamin C deficiency), pellagra (niacin and/or ..
  64. ncbi Definition and measurement of child malnutrition
    K Y Ge
    Institute of Nutrition and Food Hygiene, Chinese Academy of Preventive Medicine, Beijing 100050, China
    Biomed Environ Sci 14:283-91. 2001
    ..overnutrition (overweight and obesity) due to excessive consumption of energy and other nutrients; deficiency diseases due to insufficient intake of one or more specific nutrients such as vitamins or minerals...
  65. ncbi [Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]
    Arne Viestenz
    Augenklinik mit Poliklinik der Universität Erlangen Nürnberg, Erlangen, Germany
    Klin Monbl Augenheilkd 219:745-8. 2002
    ..Bilateral stromal corneal opacifications are a differential diagnostical challenge to identify associated systemic diseases...
  66. pmc Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo
    Stephanie C Colvin
    Department of Cellular and Integrative Physiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Proc Natl Acad Sci U S A 108:173-8. 2011
    The etiology of most pediatric hormone deficiency diseases is poorly understood...
  67. ncbi Medicinal chemistry and emerging strategies applied to the development of selective estrogen receptor modulators (SERMs)
    Musiliyu A Musa
    Florida A and M University, College of Arts and Sciences, Department of Chemistry, 219 Jones Halls, Tallahassee, FL 32307, USA
    Curr Med Chem 14:1249-61. 2007
    ..Therefore, the therapeutic goal of SERMs is the prevention of estrogen deficiency diseases without promoting estrogen-associated tumor growth...
  68. ncbi Medical geology in tropical countries with special reference to Sri Lanka
    C B Dissanayake
    Department of Geology, University of Peradeniya, Peradeniya, 20400, Sri Lanka
    Environ Geochem Health 29:155-62. 2007
    ..Iodine deficiency diseases are more common in the Wet Zone, though their aetiologies are more complicated...
  69. ncbi [Sudden infant death syndrome (SIDS) caused by ATP-depletion following hyperventilation, tissue-hypoxia and hypermetabolism--a hypothesis]
    E Deixler
    IV Medizinische Abteilung, Rheumatologie und Klinische Immunologie, Städtisches Klinikum München GmbH, Krankenhaus Munchen Bogenhausen, Akademisches Lehrkrankenhaus der Technischen Universität München
    Z Geburtshilfe Neonatol 213:122-34. 2009
    ..Hypoxia plays a major role in the pathogenesis, but the exact mechanism is not fully understood...
  70. ncbi [Iodine levels in food and soil in different regions in Cameroon]
    Ibrahim Taga
    Faculte des Sciences, BP 24157, Université de Douala, Cameroon
    Sante 14:11-5. 2004
    Iodine deficiency diseases (IDD) are a public health problem in many developing countries, such as Cameroon...
  71. ncbi [Syndrome differentiation and treatment of Taiyang disease in Shanghan Lun]
    Xue Yang
    Department of Classics, School of Traditional Chinese Medicine, Second Military Medical University, Shanghai 200433, China
    Zhong Xi Yi Jie He Xue Bao 7:171-4. 2009
    ..To explore the laws in syndrome differentiation of Taiyang disease and the prescriptions and herbs used in its treatment in Shanghan Lun (Treatise on Febrile Diseases)...
  72. pmc Low exchangeability of selenocysteine, the 21st amino acid, in vertebrate proteins
    Sergi Castellano
    Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA
    Mol Biol Evol 26:2031-40. 2009
    ..for the dependence of vertebrates on environmental selenium (Se) and have an important role in several Se-deficiency diseases. Selenoproteins are poorly characterized enzymes and reports on the functional exchangeability of Sec with ..
  73. ncbi Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)
    P T Tieu
    Department of Biological Chemistry, UCLA School of Medicine 90024 1737, USA
    Hum Mutat 6:55-9. 1995
    The alpha-L-iduronidase deficiency diseases (Mucopolysaccharidosis I) cover a spectrum of clinical severity ranging from the very severe (Hurler syndrome, MPS IH) through an intermediate (Hurler/Scheie syndrome, MPS IH/S) to a relatively ..
  74. ncbi Time trend investigation of PCBs, PBDEs, and organochlorine pesticides in selected n-3 polyunsaturated fatty acid rich dietary fish oil and vegetable oil supplements; nutritional relevance for human essential n-3 fatty acid requirements
    Miriam N Jacobs
    School of Biomedical and Molecular Sciences, University of Surrey, Guildford GU2 7XH, United Kingdom
    J Agric Food Chem 52:1780-8. 2004
    ..the prevention and treatment of cardiovascular, immunological, and arthritic diseases, as well as childhood deficiency diseases such as rickets, because of a high content of vitamin D...
  75. ncbi Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature
    MARJORIE C GONDRE-LEWIS
    Section on Cellular Neurobiology, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA
    J Cell Sci 119:1876-85. 2006
    ....
  76. ncbi Impact of Giardia intestinalis on vitamin a status in schoolchildren from northwest Mexico
    L Quihui-Cota
    Department of Human Nutrition, Centro de Investigacion en Alimentacion y Desarrollo, A C Hermosillo, Sonora, Mexico
    Int J Vitam Nutr Res 78:51-6. 2008
    ..program developers and policymakers should be aware about the distinction between dietary deficiencies and deficiency diseases when current national program strategies for parasitic control and vitamin A supplementation are redesigned.
  77. ncbi The diagnostic importance of photosensitivity dermatoses in chronic alcoholism: report of two cases
    Chrisoula Pipili
    Department of Internal Medicine, General Hospital of Sitia, GR 72300, Greece
    Dermatol Online J 14:15. 2008
    Many of the vitamin deficiency diseases have been almost completely eliminated in developed countries. Niacin deficiency is considered one of them...
  78. ncbi Selenium in human and animal nutrition: resolved and unresolved issues. A partly historical treatise in commemoration of the fiftieth anniversary of the discovery of the biological essentiality of selenium, dedicated to the memory of Klaus Schwarz (1914-1
    Gerhard N Schrauzer
    Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, CA, USA
    Crit Rev Biotechnol 29:2-9. 2009
    ..To prevent selenium-deficiency diseases in livestock, additions of selenium to animal feed are required and were approved for all species, but the ..
  79. pmc Selenium: its role as antioxidant in human health
    Ujang Tinggi
    Centre for Public Health Sciences, Queensland Health Scientific Services, 39 Kessels Road, Coopers Plains, QLD, 4108, Australia
    Environ Health Prev Med 13:102-8. 2008
    ..Concern for potential deficiency diseases associated with low Se status has led to the establishment of the recommended daily requirements for Se in ..
  80. ncbi Artificial cell biotechnology for medical applications
    T M Chang
    Artificial Cells and Organs Research Centre, Departments of Physiology, Medicine and Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Blood Purif 18:91-6. 2000
    ..Artificial cells containing enzymes are being developed for clinical trials in hereditary enzyme deficiency diseases and other diseases...
  81. ncbi Artificial cells for replacement of metabolic organ functions
    Thomas Ming Swi Chang
    Artificial Cells and Organs Research Centre, MSSS FRSQ Research Group on Blood Substitutes in Transfusion Medicine, Physiology, Medicine, and Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Artif Cells Blood Substit Immobil Biotechnol 31:151-61. 2003
    ..Artificial cells containing enzymes are being developed for clinical trial in hereditary enzyme deficiency diseases and other diseases...
  82. ncbi Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98107, USA
    J Clin Immunol 26:265-73. 2006
    ..at 3-4 week intervals are currently standard therapy in the United States for patients with primary immune deficiency diseases (PIDD)...
  83. ncbi Biofactors in the Mediterranean diet
    Mariette Gerber
    Groupe d Epidémiologie métaboliques, Centre de Recherche en Cancerologie, INSERM CRLC, Montpellier, France
    Clin Chem Lab Med 41:999-1004. 2003
    ..Vitamins were first identified because of deficiency diseases still present in certain parts of the world...
  84. ncbi Artificial cells for cell and organ replacements
    Thomas Ming Swi Chang
    Artificial Cells and Organs Research Center, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Artif Organs 28:265-70. 2004
    ..Artificial cells containing enzymes are being developed for clinical trial in hereditary enzyme deficiency diseases and other diseases...
  85. ncbi A mathematical model of neonatal tidal liquid ventilation integrating airway mechanics and gas transfer phenomena
    Chiara Corno
    Bioengineering Department, Politecnico di Milano, Milan MI 20133, Italy
    IEEE Trans Biomed Eng 51:604-11. 2004
    ..TLV) was proposed as an alternative to conventional mechanical ventilation in the case of surfactant-deficiency diseases, particularly for very premature subjects...
  86. ncbi Effects of thymic polypeptides on the thymopoiesis of mouse embryonic stem cells
    Yanwen Peng
    Center for Stem Cell Biology and Tissue Engineering, Sun Yat Sen University, 74 Zhongshan Road 2, Guangzhou, Guangdong 510080, PR China
    Cell Biol Int 32:1265-71. 2008
    ..polypeptides have been widely used clinically for the treatment of tumors, infectious diseases and immune deficiency diseases. They have already shown the ability to stimulate the maturation of hematopoietic stem cells towards the ..
  87. ncbi Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects
    Godfrey P Oakley
    Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia 30322, USA
    Birth Defects Res A Clin Mol Teratol 70:835-7. 2004
    ..effective and sustainable programs to prevent folic acid-preventable birth defects and other folate-deficiency diseases. Programs implemented to date by fewer than 40 countries have prevented only 10% of the estimated 240,000 ..
  88. pmc Bruton's tyrosine kinase is required for activation of IkappaB kinase and nuclear factor kappaB in response to B cell receptor engagement
    J B Petro
    Department of Microbiology and Immunology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 0146, USA
    J Exp Med 191:1745-54. 2000
    Mutations in the gene encoding Bruton's tyrosine kinase (btk) cause the B cell deficiency diseases X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice...
  89. pmc Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management
    Linda M Griffith
    Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    J Allergy Clin Immunol 124:1152-60.e12. 2009
    ..Finally, we discuss the role of high-quality databases in treatment of PIDs and HCT as an element of the infrastructure that will be needed for productive multicenter clinical trials in these rare diseases...
  90. ncbi From vitamin D to hormone D: fundamentals of the vitamin D endocrine system essential for good health
    Anthony W Norman
    Department of Biochemistry and Division of Biomedical Sciences, University of California, Riverside, CA, USA
    Am J Clin Nutr 88:491S-499S. 2008
    ..However, worldwide reports have highlighted a variety of vitamin D insufficiency and deficiency diseases. Despite many publications and scientific meetings reporting advances in vitamin D science, a disturbing ..
  91. ncbi Metabolic changes in malnutrition
    P W Emery
    Department of Nutrition and Dietetics, King s College London, London, UK
    Eye (Lond) 19:1029-34. 2005
    This paper is concerned with malnutrition caused by inadequate intake of all the major nutrients rather than deficiency diseases relating to a single micronutrient...
  92. ncbi Toward a new definition of essential nutrients: is it now time for a third 'vitamin' paradigm?
    J J Challem
    Aloha, Oregon 97006, USA
    Med Hypotheses 52:417-22. 1999
    ....
  93. ncbi Two promoters mediate transcription from the human LHX3 gene: involvement of nuclear factor I and specificity protein 1
    Benjamin C Yaden
    Department of Biology B C Y, M G, Indiana University Purdue University Indianapolis, Indianapolis, Indiana 46202, USA
    Endocrinology 147:324-37. 2006
    ..Mutations in the human gene are associated with hormone-deficiency diseases. The gene generates two mRNAs, hLHX3a and hLHX3b, which encode three proteins with different properties...
  94. ncbi The thymosins. Prothymosin alpha, parathymosin, and beta-thymosins: structure and function
    Ewald Hannappel
    Institute for Biochemistry Faculty of Medicine, University of Erlangen Nurnberg, 91054 Erlangen, Germany
    Vitam Horm 66:257-96. 2003
    ..thymic functions in thymic-deprived or immunodeprived animals, as well as in humans with primary immuno-deficiency diseases and in immunosuppressed patients, a standardized extract from bovine thymus gland called thymosin fraction ..
  95. ncbi LHX3 and LHX4 transcription factors in pituitary development and disease
    Stephanie C Colvin
    Department of Cellular and Integrative Physiology, Indiana University School of Medicine, Indianapolis, IN 46202 5120, USA
    Pediatr Endocrinol Rev 6:283-90. 2009
    ..identified a variety of mutations in the LHX3 and LHX4 genes in patients with combined pituitary hormone deficiency diseases. These patients have complex and variable syndromes involving short stature, metabolic disorders, ..
  96. ncbi The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases
    J C Shen
    Department of Pathology, University of Washington, Seattle, Washington 98195 7705, USA
    Trends Genet 16:213-20. 2000
    ..Preliminary results indicate that WRN functions as a key factor in resolving aberrant DNA structures that arise from DNA metabolic processes such as replication, recombination and/or repair, to preserve the genetic integrity in cells...
  97. ncbi X-linked agammaglobulinemia in a 10-year-old child: a case study
    Lissette Estrella
    Division of Clinical Immunology, Mount Sinai School of Medicine, New York, New York 10029 6574, USA
    J Am Acad Nurse Pract 19:205-11. 2007
    ..To discuss the advanced practice nurse's diagnosis and management of an unsuspected primary immunodeficiency (PI) disease, X-linked agammaglobulinemia (XLA), in a child...
  98. ncbi China: the soyabean-pork dilemma
    C Geissler
    Department of Nutrition and Dietetics, King s College London, UK
    Proc Nutr Soc 58:345-53. 1999
    ..of a nutrition transition in which diseases associated with affluence are becoming more prevalent than deficiency diseases. This transition has led to concern about the evolving dietary pattern...
  99. ncbi Application of agricultural biotechnology to improve food nutrition and healthcare products
    Samuel S M Sun
    The Chinese University of Hong Kong, Department of Biology, G88 Science Centre South Block, Shatin, NT, Hong Kong, China
    Asia Pac J Clin Nutr 17:87-90. 2008
    ..food crop as source of nutrients thus will not achieve a balanced diet and results in malnutrition and deficiency diseases, especially in the developing countries, due mainly to poverty...
  100. ncbi Oral manifestations of primary immune deficiencies in children
    Aleksandra Szczawinska-Poplonyk
    Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Karol Marcinkowski University of Medical Sciences, Poznan, Poland
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 108:e9-20. 2009
    ..In this article, symptomatology of selected primary immune deficiency diseases are discussed with particular emphasis on oral manifestations reported in this group of disorders...
  101. pmc The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency
    Yan Meng
    Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, University of Tokyo, Yayoi 1 1 1, Bunkyo ku, Tokyo 113 8657, Japan
    J Biol Chem 284:11698-705. 2009
    ..yellow body coloration, of the silkworm Bombyx mori could be used as the first insect model for human SPR deficiency diseases. We demonstrated that mutations in the SPR gene (BmSpr) were responsible for the irregular body coloration ..

Research Grants62

  1. ANALYSIS AND MODULATION OF IMMUNITY IN GENE THERAPY
    Paula Clemens; Fiscal Year: 2003
    ..DESCRIPTION (Abstract): Therapeutic gene transfer is a logical approach to the treatment of inherited genetic deficiency diseases, many of which have no other adequate treatment...
  2. Cellular &Molecular Defects in Human B Cell Development
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Primary immune deficiency diseases provide an unparalleled resource for investigators in human immunology...
  3. Role of LHX3 Protein Isoforms in Pituitary Development
    SIMON JAMES RHODES; Fiscal Year: 2012
    ..and others have recently described that mutations in the LHX3 gene cause combined pituitary hormone deficiency diseases, and other symptoms such as nervous system problems, in children...
  4. Bone Marrow Transplant Clinical Network
    Edward A Stadtmauer; Fiscal Year: 2010
    ..hematopoietic stem cell transplantations (HCT) were done in 1968 in three children with congenital immune deficiency diseases. In each instance, stem cells were collected from the bone marrow of sibling donors who were genotypically ..
  5. Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Primary Immune Deficiency Diseases (PIDDs) include a group of rare diseases whose clinical manifestations encompass multiple clinical specialties...
  6. In-vivo miRNA Detection Using Structurally Interacting RNA (sxRNA)
    Scott A Tenenbaum; Fiscal Year: 2011
    ..sxRNA could be an RNA-based alternative to gene therapy for protein deficiency diseases, such as cystic fibrosis, or a cancer therapy...
  7. LINGUAL SEROUS GLANDS--REGULATION OF ENZYME SECRETION
    RUTH FIELD; Fiscal Year: 1992
    ..When the complete mechanism of secretion is known, it will be possible to use this knowledge to treat pancreatic deficiency diseases by stimulating secretion of lingual lipase.
  8. BONE MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS
    Chester Whitley; Fiscal Year: 1993
    ..of introducing large amounts of enzyme-producing cells on a continuous basis into patients with enzyme deficiency diseases; (2) long-term engraftment by normal donor cells results in metabolic correction as demonstrated by ..
  9. 2nd North American meeting by CIS devoted to primary immune deficiency.
    Charlotte Cunningham-Rundles; Fiscal Year: 2012
    ..The 2012 CIS Annual Meeting: Primary Immune Deficiency Diseases North American Conference, to be held May 17-20, 2012 in Chicago, represents a major new educational ..
  10. BIOCHEMICAL BASIS OF SULFATASE ACTIVITY
    ALLEN HORWITZ; Fiscal Year: 1992
    ..The understanding of all these processes will be important in devising strategies for the treatment of enzyme deficiency diseases.
  11. OVARIAN TOXICITY OF GALACTOSE
    Claude Hughes; Fiscal Year: 1999
    ..calcium intake for osteoporosis prevention may actually exacerbate osteoporosis, and other serious estrogen deficiency diseases if their diet concurrently advances ovarian failure or inhibits normal ovarian function prior to ultimate ..
  12. HISTORY AND CULTURE OF FOOD AND NUTRITION
    KENNETH KIPLE; Fiscal Year: 1999
    ..But it is also the case that many of the complexities of nutrition, nutritional chemistry, and deficiency diseases can be daunting for the nonspecialist. The proposed project should remedy this...
  13. ALPHA-GALACTOSIDASES A, B--MOLECULAR/CELLULAR MECHANISM
    ROBERT DESNICK; Fiscal Year: 1999
    ..alpha-Gal B) by characterization of their respective structural domains, enzyme complexes, and deficiency diseases. To facilitate these studies, we 1) isolated and characterized the full-length human and murine cDNAs and ..
  14. Prolong the Survival of NSCL Patients by a Phytomix
    Henry Sacks; Fiscal Year: 2006
    ..non-toxic anticancer and immune-enhancing dietary supplements for the treatment of cancer and immune-deficiency diseases. The specific objective is to test whether a specific mixture of "Selected Vegetables and Herbs Mix (SV)", ..
  15. TOLERANCE IN PRIMATES--THYMIC IMPLANTATION OF STEM CELL
    Margaret Allen; Fiscal Year: 2002
    ..Depending on the level of chimerism achieved, the potential for introducing allogenic stem cells into an infant without immunosuppression might also have implications for the treatment of genetic deficiency diseases.
  16. Regulation of Cardiac Carnitine Palmitoyltransferase I
    Gebre Woldegiorgis; Fiscal Year: 2004
    ..The M-CPTI null mice will allow us to construct models that mimic human CPT deficiency diseases and to look for potential gene therapy through retro-transfection of the normal CPT gene.
  17. ANTIGEN RECEPTOR GENES FROM TH AND TS CELLS
    Ellen Kraig; Fiscal Year: 1991
    ..A better understanding of the molecular controls operating in immune regulation is of primary importance in determining the basic mechanisms and defects in certain immune deficiency diseases and autoimmune disorders.
  18. Biochemical basis of WRN and RecQ helicase function
    DAVID ORREN; Fiscal Year: 2007
    ..Not surprisingly, the human hereditary RecQ deficiency diseases (Werner, Bloom, and Rothmund-Thomson syndromes, caused by defects in WRN, BLM, and RECQL4, respectively) ..
  19. LINEAGE COMMITMENT OF T-LYMPHOCYTES DURING DEVELOPMENT
    Robert Arceci; Fiscal Year: 1991
    ..of such processes are furthermore central to any fundamental understanding of a variety of inherited immune deficiency diseases as well as how immune reconstitution occurs following bone marrow transplantation...
  20. Bi-Annual Meeting of the IUIS Expert Committee on Primary Immunodeficiency
    Raif Geha; Fiscal Year: 2009
    Primary immune deficiency diseases (PID) provide an excellent window into the functioning of the immune system. During the past 15 years the molecular basis of more than 100 PID has been elucidated...
  21. Characterization of Corneal Epithelial Stem Cells
    Mary Ann Stepp; Fiscal Year: 2005
    ..Discovering specific molecular markers for the limbal stem cells will aid in the development of treatments for stem cell deficiency diseases of the ocular surface in humans.
  22. Structural biology of kinase signaling in T-cells
    Michael J Eck; Fiscal Year: 2010
    ..Also, they will help us to understand the causes of immune deficiency diseases XLP and SCID at a detailed molecular level.
  23. Transcription Regulation by B-Cell Receptor Signaling
    Wasif Khan; Fiscal Year: 2004
    ..Identification of these important missing links may reveal new immunotherapeutic targets for intervention in B-cell deficiency diseases such as XLA.
  24. Bone-Sparing by Ca Salts With & Without Extra Phosphorus
    Robert Heaney; Fiscal Year: 2008
    ..1 Description, ..
  25. BONY EFFECTS OF TRANSIENT NONSKELETAL ILLNESS
    Robert Heaney; Fiscal Year: 2001
    ....
  26. Mitochondrial Nutrients Protect RPE from Oxidant Damage
    Bruce Ames; Fiscal Year: 2006
    ..This in vitro analysis of mitochondrial nutrients may provide the basis for the development of therapeutic agents that can prevent and/or reduce the retinal and RPE pathophysiology observed in AMD. [unreadable] [unreadable] [unreadable]..
  27. Nutritional Control of Transcription Factor Expression
    Michael S Kilberg; Fiscal Year: 2010
    ..Our long-term goal is to understand how mammalian cells respond to their nutritional environment through gene expression, using amino acid availability as the model. ..
  28. ALCOHOL, ACETAMINOPHEN, AND LIVER SINUSOID DYSFUNCTION
    ROBERT MC CUSKEY; Fiscal Year: 2004
    ..A better knowledge of the hepatic pathophysiology of alcohol bringing also should result. ..
  29. NUTRITIONAL CONTROL OF ASPARAGINE SYNTHETASE
    Michael S Kilberg; Fiscal Year: 2010
    ..abstract_text> ..
  30. Contemporary Diagnosis and Treatment of Vitamin D-Related Disorders
    Marc Drezner; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  31. Cardiovascular Consequences of Thyroid Dysfunction
    Elizabeth Pearce; Fiscal Year: 2007
    ..Pearce's career as an independent academic clinical investigator with a focus on thyroid disease and epidemiology. ..
  32. Increasing Screening Colonoscopy Among Minority Women
    Moshe Shike; Fiscal Year: 2004
    ..Demonstration of the feasibility of this model can form the basis for a nationwide project using mammography centers to enhance CRCS. ..
  33. Benefits & Risks of Popular Weight Loss Diets
    Christopher Gardner; Fiscal Year: 2003
    ..The data generated from this preliminary/feasibility study will be used to strengthen the proposal and design of a future full-scale study. ..
  34. DO HIGH DOSE B VITAMINS DELAY AGE-RELATED DECAY
    Bruce Ames; Fiscal Year: 2005
    ....
  35. Diet Therapy of Long-Chain Fatty Acid Oxidation Defects
    MELANIE GILLINGHAM; Fiscal Year: 2005
    ..abstract_text> ..
  36. Impact of Nutritional Status on Immune Function & Health
    Pamela Fraker; Fiscal Year: 2003
    ..abstract_text> ..
  37. S-adenosylhomocysteine and S-adenosylmethionine in Alcoholic Liver Disease
    Craig J McClain; Fiscal Year: 2010
    ..These studies utilize state-of-the-art models/techniques in a translational approach to develop an enhanced understanding of mechanisms involved in ALD and potential new therapy for ALD. ..
  38. Comparing Effects of 3 Sources of Garlic on Serum Lipids
    Christopher Gardner; Fiscal Year: 2005
    ..The comprehensive approach taken in this study will provide important evidence for both the public and for health professionals as to whether fresh garlic or garlic supplements have beneficial effects on serum lipids. ..
  39. IRON DEFICIENCY AND DOPAMINE
    John Beard; Fiscal Year: 2004
    ..This expansion of study to other neurotransmitters will significantly contribute to our knowledge of the effects of iron deficiency on brain functioning in early life. ..
  40. DIETARY FATTY CONTROL OF INFLAMMATION
    Kevin High; Fiscal Year: 2002
    ..Health relateness: Answering these fundamental questions will shed critical light on the feasibility of utilizing dietary fatty acids to regulate AA metabolism and related clinical disorders. ..
  41. Androgen deficiency and Osteopenia in Anorexia Nervosa
    Karen Miller; Fiscal Year: 2002
    ..In the third phase of the study, we will examine the effects of administering testosterone on bone density and body mass. ..
  42. A.S.P.E.N. Research Workshop on Functional Foods
    Craig McClain; Fiscal Year: 2002
    ..abstract_text> ..
  43. MALDI-TOF MASS SPECTROMETER
    Bruce Ames; Fiscal Year: 2002
    ..abstract_text> ..
  44. ZINC AND THE SYNTHESIS OF ZINC BINDING PROTEINS
    Robert Cousins; Fiscal Year: 2009
    ..Extensive use will be made of transporter localization using immunohistochemistry and immunocytochemistry and zinc fluorophores as visualized by fluorescence microscopy. ..
  45. DELAYING MITOCHONDRIAL DECAY WITH CARNITINE AND LIPOATE
    Bruce Ames; Fiscal Year: 2001
    ..abstract_text> ..
  46. Mechanisms of S-adenosylmethionine in NASH
    Craig McClain; Fiscal Year: 2009
    ..Determine by proteomic analysis of serum and liver biopsies the proteins (esp. oxidative stress, oxidized and mitochondrial proteins) that may play a role in the diagnosis or etiology of NASH, and which may be modified by SAMe therapy ..
  47. FUNCTIONAL SIGNIFICANCE OF EARLY IRON DEFICIENCY
    Betsy Lozoff; Fiscal Year: 2008
    ..abstract_text> ..
  48. Phospholipid and Arachidonic Acid Signaling in Epilepsy
    Nicolas Bazan; Fiscal Year: 2007
    ..abstract_text> ..
  49. Nutritional Regulation of Ribosomal Protein Expression
    Michael Kilberg; Fiscal Year: 2005
    ..The proposed experiments test important hypotheses and will generate valuable new information regarding the mechanisms by which mammalian cells respond to changes in amino acid availability. ..
  50. Tuning-Up Human Metabolism
    Bruce Ames; Fiscal Year: 2005
    ..Previous results showed that high doses of key mitochondrial metabolites delay mitochondrial decay and involve Km. 4) Minimizing DNA damage and cancer by optimizing micronutrient levels, particularly in the elderly. ..
  51. Brucella, Aging and Role of IL-17 in Host Defense
    Kevin High; Fiscal Year: 2005
    ..The data generated in this proposal will form the foundation of future R01 proposals aimed at enhancing immunity vs. intracellular pathogens in our aging population. ..
  52. Regulation of Arginase Genes in Sepsis and Trauma
    Sidney Morris; Fiscal Year: 2005
    ..abstract_text> ..
  53. Effect of Selenoprotein SNPs on Prostate Cancer Risk
    Margaret Rayman; Fiscal Year: 2005
    ..Reduction of cancer incidence in these sub-groups would reduce the incidence of prostate cancer in the population. ..
  54. ANDROGEN PRODUCTION IN ADRENARCHE AND PCOS
    WALTER MILLER; Fiscal Year: 2006
    ..abstract_text> ..
  55. QUANTITATIVE METALLOPROTEOMICS: THE HUMAN ERYTHROCYTE
    Bruce Ames; Fiscal Year: 2006
    ..abstract_text> ..
  56. Mitochondrial Metabiolites to Treat Parkinson's Disease
    Bruce Ames; Fiscal Year: 2005
    ..This project on PD is a new direction for our work on preventing mitochondrial decay and could lead to an effective and cost efficient prevention /therapy for PD. ..
  57. Genetics of Congenital Left-sided Heart Defects
    Kim McBride; Fiscal Year: 2007
    ..The proposed studies will launch the applicant on an independent research career, providing a base on which to advance genetic analyses of CCVM with the aim to reduce their occurrence and provide new treatment opportunities. ..
  58. Effect of Antioxidants on Inflammatory Markers and FMVD
    Christopher Gardner; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  59. Arginine and Ovine Model for Fetal Growth Restriction
    Guoyao Wu; Fiscal Year: 2007
    ..This will ultimately promote favorable pregnancy outcomes while saving billions of healthcare dollars in the U.S. and worldwide. [unreadable] [unreadable] [unreadable]..
  60. THE PATHOGENESIS OF AUTOIMMUNITY IN A MURINE MODEL OF PRIMARY BILIARY CIRRHOSIS
    MERRILL E GERSHWIN; Fiscal Year: 2010
    ..abstract_text> ..