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Sample records for deficiency normirovanie postupleniya

  1. Deficiencies

    Data.gov (United States)

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

  2. Iodine Deficiency

    Science.gov (United States)

    ... 2017 By ATA | Featured , Iodine Deficiency , News Releases , Potassium Iodide (KI) | No Comments IDD NEWSLETTER – February 2017 VOLUME ... 2016 By ATA | Featured , Iodine Deficiency , News Releases , Potassium Iodide (KI) | No Comments IDD NEWSLETTER – November 2015 (PDF ...

  3. Disaccharidase deficiency.

    Science.gov (United States)

    Bayless, T M; Christopher, N L

    1969-02-01

    This review of the literature and current knowledge concerning a nutritional disorder of disaccharidase deficiency discusses the following topics: 1) a description of disorders of disaccharide digestion; 2) some historical perspective on the laboratory and bedside advances in the past 10 years that have helped define a group of these digestive disorders; 3) a classification of conditions causing disaccharide intolerance; and 4) a discussion of some of the specific clinical syndromes emphasizing nutritional consequences of these syndromes. The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis.

  4. Prolidase deficiency

    Directory of Open Access Journals (Sweden)

    Masood Qazi

    2007-01-01

    Full Text Available Prolidase deficiency is a rare inborn disorder of collagen metabolism characterized by chronic recurrent skin ulceration. A seven-year-old girl and her younger sibling with clinical features and laboratory criteria fulfilling the diagnosis of prolidase deficiency are presented in view of rarity of the condition.

  5. 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. Howeve

  6. 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. Howeve

  7. Iodine Deficiency

    Science.gov (United States)

    ... 0 Iodine Daily Serving now recommended in Multivitamin/Mineral Supplements for Pregnant and Lactating Women By ATA | 2015 News Releases , Iodine Deficiency , News Releases , Thyroid Disease and Pregnancy | No Comments Falls Church, February 10, 2015 —The ...

  8. Iron deficiency.

    Science.gov (United States)

    Scrimshaw, N S

    1991-10-01

    The world's leading nutritional problem is iron deficiency. 66% of children and women aged 15-44 years in developing countries have it. Further, 10-20% of women of childbearing age in developed countries are anemic. Iron deficiency is identified with often irreversible impairment of a child's learning ability. It is also associated with low capacity for adults to work which reduces productivity. In addition, it impairs the immune system which reduces the body's ability to fight infection. Iron deficiency also lowers the metabolic rate and the body temperature when exposed to cold. Hemoglobin contains nearly 73% of the body's iron. This iron is always being recycled as more red blood cells are made. The rest of the needed iron does important tasks for the body, such as binds to molecules that are reservoirs of oxygen for muscle cells. This iron comes from our diet, especially meat. Even though some plants, such as spinach, are high in iron, the body can only absorb 1.4-7% of the iron in plants whereas it can absorb 20% of the iron in red meat. In many developing countries, the common vegetarian diets contribute to high rates of iron deficiency. Parasitic diseases and abnormal uterine bleeding also promote iron deficiency. Iron therapy in anemic children can often, but not always, improve behavior and cognitive performance. Iron deficiency during pregnancy often contributes to maternal and perinatal mortality. Yet treatment, if given to a child in time, can lead to normal growth and hinder infections. However, excess iron can be damaging. Too much supplemental iron in a malnourished child promotes fatal infections since the excess iron is available for the pathogens use. Many countries do not have an effective system for diagnosing, treating, and preventing iron deficiency. Therefore a concerted international effort is needed to eliminate iron deficiency in the world.

  9. Cobalamin deficiency.

    Science.gov (United States)

    Herrmann, Wolfgang; Obeid, Rima

    2012-01-01

    Cobalamin (Cbl, vitamin B12) consists of a corrinoid structure with cobalt in the centre of the molecule. Neither humans nor animals are able to synthesize this vitamin. Foods of animal source are the only natural source of cobalamin in human diet. There are only two enzymatic reactions in mammalian cells that require cobalamin as cofactor. Methylcobolamin is a cofactor for methionine synthase. The enzyme methylmalonyl-CoA-mutase requires adenosylcobalamin as a cofactor. Therefore, serum concentrations of homocysteine (tHcy) and methylmalonic acid (MMA) will increase in cobalamin deficiency. The cobalamin absorption from diet is a complex process that involves different proteins: haptocorrin, intrinsic factor and transcobalamin (TC). Cobalamin that is bound to TC is called holotranscobalamin (holoTC) which is the metabolically active vitamin B12 fraction. HoloTC consists 6 and 20% of total cobalamin whereas 80% of total serum cobalamin is bound to another binding protein, haptocorrin. Cobalamin deficiency is common worldwide. Cobalamin malabsorption is common in elderly subjects which might explain low vitamin status. Subjects who ingest low amount of cobalamin like vegetarians develop vitamin deficiency. No single parameter can be used to diagnose cobalamin deficiency. Total serum cobalamin is neither sensitive nor it is specific for cobalamin deficiency. This might explain why many deficient subjects would be overlooked by utilizing total cobalamin as status marker. Concentration of holotranscobalamin (holoTC) in serum is an earlier marker that becomes decreased before total serum cobalamin. Concentrations of MMA and tHcy increase in blood of cobalamin deficient subjects. Despite limitations of these markers in patients with renal dysfunction, concentrations of MMA and tHcy are useful functional markers of cobalamin status. The combined use of holoTC and MMA assays may better indicate cobalamin status than either of them. Because Cbl deficiency is a risk factor

  10. VLCAD deficiency

    DEFF Research Database (Denmark)

    Boneh, A; Andresen, B S; Gregersen, N

    2006-01-01

    We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood...

  11. 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...

  12. 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 ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... at highest risk for iron-deficiency anemia. Outlook Doctors usually can successfully treat iron-deficiency anemia. Treatment ... poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency anemia, Susan got ...

  14. Carnitine Deficiency and Pregnancy

    OpenAIRE

    Anouk de Bruyn; Yves Jacquemyn; Kristof Kinget; François Eyskens

    2015-01-01

    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, su...

  15. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video— ... treatment. For more information about living with and managing iron-deficiency anemia, go to the Health Topics ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  18. Folate-deficiency anemia

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000551.htm Folate-deficiency anemia To use the sharing features on this page, please enable JavaScript. Folate-deficiency anemia is a decrease in red blood cells (anemia) ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in a hospital, blood ... With and Managing Iron-Deficiency Anemia 05/18/2011 This video— ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL ... and women are the two groups at highest risk for iron-deficiency anemia. Outlook Doctors usually can ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia Explore Iron-Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  3. Iron-Deficiency Anemia

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, ... Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by ...

  4. Iron-Deficiency Anemia

    Science.gov (United States)

    ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you don' ... from food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers ...

  8. 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.

  9. Acquired color vision deficiency.

    Science.gov (United States)

    Simunovic, Matthew P

    2016-01-01

    Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. A wide array of conditions may affect color vision, ranging from diseases of the ocular media through to pathology of the visual cortex. Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emerging clinical and molecular genetic data would suggest a degree of overlap. We review the pathophysiology of acquired color vision deficiency, the data on its prevalence, theories for the preponderance of acquired S-mechanism (or tritan) deficiency, and discuss tests of color vision. We also briefly review the types of color vision deficiencies encountered in ocular disease, with an emphasis placed on larger or more detailed clinical investigations.

  10. 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

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  12. 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 ...

  13. 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)....

  14. Growth Hormone Deficiency

    Directory of Open Access Journals (Sweden)

    Ömer Tarım

    2010-05-01

    Full Text Available Growth hormone deficiency is the most promising entity in terms of response to therapy among the treatable causes of growth retardation. It may be due to genetic or acquired causes. It may be isolated or a part of multiple hormone deficiencies. Diagnostic criteria and therefore treatment indications are still disputed. (Journal of Current Pediatrics 2010; 8: 36-8

  15. 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

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... periods. By following her treatment plan and making smart lifestyle choices, Susan continues to feel better and see the benefits of treatment. For more information about living with and managing iron-deficiency anemia, go to the Health Topics Iron-Deficiency Anemia article. Updated: March 26, ...

  17. Iron induced nickel deficiency

    Science.gov (United States)

    It is increasingly apparent that economic loss due to nickel (Ni) deficiency likely occurs in horticultural and agronomic crops. While most soils contain sufficient Ni to meet crop requirements, situations of Ni deficiency can arise due to antagonistic interactions with other metals. This study asse...

  18. 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

  19. Deficiently Extremal Gorenstein Algebras

    Indian Academy of Sciences (India)

    Pavinder Singh

    2011-08-01

    The aim of this article is to study the homological properties of deficiently extremal Gorenstein algebras. We prove that if / is an odd deficiently extremal Gorenstein algebra with pure minimal free resolution, then the codimension of / must be odd. As an application, the structure of pure minimal free resolution of a nearly extremal Gorenstein algebra is obtained.

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  1. 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

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may ...

  3. Factor II deficiency

    Science.gov (United States)

    ... if one or more of these factors are missing or are not functioning like they should. Factor II is one such coagulation factor. Factor II deficiency runs in families (inherited) and is very rare. Both parents must ...

  4. Factor VII deficiency

    Science.gov (United States)

    ... if one or more of these factors are missing or are not functioning like they should. Factor VII is one such coagulation factor. Factor VII deficiency runs in families (inherited) and is very rare. Both parents must ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... of Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-rich protein that carries oxygen from the lungs to the rest of the body. Iron-deficiency ... 2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National Institutes ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related Topics ... Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. Rate This ... video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... such as tiredness, poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency ... to stop her monthly periods. By following her treatment plan and making smart lifestyle choices, Susan continues ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ...

  14. Sleep Deprivation and Deficiency

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Sleep Deprivation and Deficiency? Sleep deprivation (DEP-rih-VA- ... Rate This Content: NEXT >> Updated: June 7, 2017 Sleep Infographic Sleep Disorders & Insufficient Sleep: Improving Health through ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related Topics ... Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... a waste product) from your body. Anemia also can occur if your red blood cells don't ... have less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & Clinical ... iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in ... 18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  2. Iron deficiency anemia

    OpenAIRE

    Naigamwalla, Dinaz Z.; Webb, Jinelle A.; Giger, Urs

    2012-01-01

    Iron is essential to virtually all living organisms and is integral to multiple metabolic functions. The most important function is oxygen transport in hemoglobin. Iron deficiency anemia in dogs and cats is usually caused by chronic blood loss and can be discovered incidentally as animals may have adapted to the anemia. Severe iron deficiency is characterized by a microcytic, hypochromic, potentially severe anemia with a variable regenerative response. Iron metabolism and homeostasis will be ...

  3. Proximal Focal Femoral Deficiency

    OpenAIRE

    Vishal Kalia, Vibhuti

    2008-01-01

    Proximal focal femoral deficiency (PFFD) is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contra...

  4. Glucose-6-phosphatase deficiency.

    OpenAIRE

    Labrune Philippe; Gajdos Vincent; Eberschweiler Pascale; Hubert-Buron Aurélie; Petit François; Vianey-Saban Christine; Boudjemline Alix; Piraud Monique; Froissart Roseline

    2011-01-01

    Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, betw...

  5. Vitamin B12 deficiency.

    Science.gov (United States)

    Oh, Robert; Brown, David L

    2003-03-01

    Vitamin B12 (cobalamin) deficiency is a common cause of macrocytic anemia and has been implicated in a spectrum of neuropsychiatric disorders. The role of B12 deficiency in hyperhomocysteinemia and the promotion of atherosclerosis is only now being explored. Diagnosis of vitamin B12 deficiency is typically based on measurement of serum vitamin B12 levels; however, about 50 percent of patients with subclinical disease have normal B12 levels. A more sensitive method of screening for vitamin B12 deficiency is measurement of serum methylmalonic acid and homocysteine levels, which are increased early in vitamin B12 deficiency. Use of the Schilling test for detection of pernicious anemia has been supplanted for the most part by serologic testing for parietal cell and intrinsic factor antibodies. Contrary to prevailing medical practice, studies show that supplementation with oral vitamin B12 is a safe and effective treatment for the B12 deficiency state. Even when intrinsic factor is not present to aid in the absorption of vitamin B12 (pernicious anemia) or in other diseases that affect the usual absorption sites in the terminal ileum, oral therapy remains effective.

  6. Iron deficiency anaemia.

    Science.gov (United States)

    Lopez, Anthony; Cacoub, Patrice; Macdougall, Iain C; Peyrin-Biroulet, Laurent

    2016-02-27

    Anaemia affects roughly a third of the world's population; half the cases are due to iron deficiency. It is a major and global public health problem that affects maternal and child mortality, physical performance, and referral to health-care professionals. Children aged 0-5 years, women of childbearing age, and pregnant women are particularly at risk. Several chronic diseases are frequently associated with iron deficiency anaemia--notably chronic kidney disease, chronic heart failure, cancer, and inflammatory bowel disease. Measurement of serum ferritin, transferrin saturation, serum soluble transferrin receptors, and the serum soluble transferrin receptors-ferritin index are more accurate than classic red cell indices in the diagnosis of iron deficiency anaemia. In addition to the search for and treatment of the cause of iron deficiency, treatment strategies encompass prevention, including food fortification and iron supplementation. Oral iron is usually recommended as first-line therapy, but the most recent intravenous iron formulations, which have been available for nearly a decade, seem to replenish iron stores safely and effectively. Hepcidin has a key role in iron homoeostasis and could be a future diagnostic and therapeutic target. In this Seminar, we discuss the clinical presentation, epidemiology, pathophysiology, diagnosis, and acute management of iron deficiency anaemia, and outstanding research questions for treatment.

  7. [Vitamin deficiencies and hypervitaminosis].

    Science.gov (United States)

    Mino, M

    1999-10-01

    There have recently been very few deficiencies with respect to fat soluble and water soluble vitamins in Japan All-trans-retinoic acid as induction or maintenance treatment improves disease free and overall survival against acute promyelocytic leukemia. In the isolated vitamin E deficiencies gene mutation has been cleared for alpha-tocopherol transferprotein. Recently, a relation of nutritional vitamin K intake and senile osteoporosis in women was epidemiologically demonstrated on a prospective study. Thiamin was yet noticed as development of deficiency in alcoholism, while the importance of supplemental folic acid during pregnancy has become especially clear in light of studies showing that folic acid supplements reduce the risk of neural tube defects in the fetus. With respect to hypervitaminosis, the Council for Responsible Nutrition (CRN), USA, has established safe intakes by identifying the NOAEL (No Observed Adverse Effect Level) and LOAEL (Lowest Observed Adverse Effect Level). Summaries of NOAEL and LOAEL for individual vitamins were shown.

  8. 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.

  9. Mortality and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Gravholt, Claus Højbjerg; Laursen, Torben;

    2007-01-01

    OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided into chil......OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided...

  10. 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 iodine-deficien

  11. Factor V deficiency

    Science.gov (United States)

    ... When certain blood clotting factors are low or missing, your blood does not clot properly. Factor V deficiency is rare. It may be caused by: A defective Factor V gene passed down through families (inherited) An antibody that interferes with normal Factor ...

  12. Alpha1-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Stolk, Jan; Seersholm, Niels; Kalsheker, Noor

    2006-01-01

    biennially to exchange views and research findings. The fourth biennial meeting was held in Copenhagen, Denmark, on 2-3 June 2005. This review covers the wide range of AAT deficiency-related topics that were addressed encompassing advances in genetic characterization, risk factor identification, clinical...... epidemiology, inflammatory and signalling processes, therapeutic advances, and lung imaging techniques....

  13. MCAD deficiency in Denmark

    DEFF Research Database (Denmark)

    Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael

    2012-01-01

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of fatty acid oxidation. Many countries have introduced newborn screening for MCADD, because characteristic acylcarnitines can easily be identified in filter paper blood spot samples by tandem mass spectrometry (MS...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood transfusions , iron injections, or intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  15. 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 iodine-deficien

  16. 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...

  17. Morbidity and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Laursen, Torben; Green, Anders;

    2008-01-01

    OBJECTIVE: To estimate morbidity in Denmark in all patients with GH deficiency (GHD). DESIGN: Morbidity was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in the GHD patients were studied and additional morbidity noted. Diagnoses and dates of admissions were...

  18. Diagnosing oceanic nutrient deficiency

    Science.gov (United States)

    Moore, C. Mark

    2016-11-01

    The supply of a range of nutrient elements to surface waters is an important driver of oceanic production and the subsequent linked cycling of the nutrients and carbon. Relative deficiencies of different nutrients with respect to biological requirements, within both surface and internal water masses, can be both a key indicator and driver of the potential for these nutrients to become limiting for the production of new organic material in the upper ocean. The availability of high-quality, full-depth and global-scale datasets on the concentrations of a wide range of both macro- and micro-nutrients produced through the international GEOTRACES programme provides the potential for estimation of multi-element deficiencies at unprecedented scales. Resultant coherent large-scale patterns in diagnosed deficiency can be linked to the interacting physical-chemical-biological processes which drive upper ocean nutrient biogeochemistry. Calculations of ranked deficiencies across multiple elements further highlight important remaining uncertainties in the stoichiometric plasticity of nutrient ratios within oceanic microbial systems and caveats with regards to linkages to upper ocean nutrient limitation. This article is part of the themed issue 'Biological and climatic impacts of ocean trace element chemistry'.

  19. 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...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood transfusions , iron injections, or intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  1. Genetics Home Reference: carbonic anhydrase VA deficiency

    Science.gov (United States)

    ... hyperammonemia due to carbonic anhydrase VA deficiency hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency mitochondrial carbonic anhydrase va deficiency Related Information How are ...

  2. Glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000528.htm Glucose-6-phosphate dehydrogenase deficiency To use the sharing features on this page, please enable JavaScript. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which ...

  3. Cobalamin deficiency, hyperhomocysteinemia, and dementia

    National Research Council Canada - National Science Library

    Werder, Steven F

    2010-01-01

    ...) What is to be expected from treatment? (7) How is B12 deficiency treated? On January 31st, 2009, a Medline search was performed revealing 1,627 citations related to cobalamin deficiency, hyperhomocysteinemia, and dementia...

  4. Growth Hormone Deficiency in Children

    Science.gov (United States)

    Fact Sheet Growth Defici H e o n r c m y one in Children What is growth hormone deficiency? Growth hormone deficiency (GHD) is a rare condition in which the body does not make enough growth hormone (GH). GH is made by the pituitary ...

  5. Iron deficiency and cognitive functions

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2014-11-01

    Full Text Available Ignacio Jáuregui-Lobera Department of Nutrition and Bromatology, Pablo de Olavide University, Seville, Spain Abstract: Micronutrient deficiencies, especially those related to iodine and iron, are linked to different cognitive impairments, as well as to potential long-term behavioral changes. Among the cognitive impairments caused by iron deficiency, those referring to attention span, intelligence, and sensory perception functions are mainly cited, as well as those associated with emotions and behavior, often directly related to the presence of iron deficiency anemia. In addition, iron deficiency without anemia may cause cognitive disturbances. At present, the prevalence of iron deficiency and iron deficiency anemia is 2%–6% among European children. Given the importance of iron deficiency relative to proper cognitive development and the alterations that can persist through adulthood as a result of this deficiency, the objective of this study was to review the current state of knowledge about this health problem. The relevance of iron deficiency and iron deficiency anemia, the distinction between the cognitive consequences of iron deficiency and those affecting specifically cognitive development, and the debate about the utility of iron supplements are the most relevant and controversial topics. Despite there being methodological differences among studies, there is some evidence that iron supplementation improves cognitive functions. Nevertheless, this must be confirmed by means of adequate follow-up studies among different groups. Keywords: iron deficiency, anemia, cognitive functions, supplementation

  6. [Selective immunoglobulin A deficiency].

    Science.gov (United States)

    Binek, Alicja; Jarosz-Chobot, Przemysława

    2012-01-01

    Immunoglobulin class A is the main protein of the mucosal immune system. Selective immunoglobulin A deficiency (sIgAD) is the most common primary immunodeficiency in Caucasians. sIGAD is strongly associated with the certain major histocompatibility complex region. Most individuals with sIgAD are asymptomatic and identified coincidentally. However, some patients may present with recurrent infections, allergic disorders and autoimmune manifestations. Several autoimmune diseases, such as systemic lupus erythematosus, diabetes mellitus type 1, Graves disease and celiac disease, are associated with an increased prevalence of sIgAD. Screening for sIgAD in coeliac disease is essential. Patients need treatment of associated diseases. It is also known that IgA deficiency may progress into a common variable immunodeficiency (CVID). Pathogenesis and molecular mechanism involved in sIgAD should be elucidated in the future.

  7. Isolated sulfite oxidase deficiency.

    Science.gov (United States)

    Relinque, B; Bardallo, L; Granero, M; Jiménez, P J; Luna, S

    2015-03-10

    Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing. We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It's also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it's also possible carrying out DNA mutational analysis.

  8. Proximal Focal Femoral Deficiency

    Directory of Open Access Journals (Sweden)

    Vishal Kalia, Vibhuti

    2008-01-01

    Full Text Available Proximal focal femoral deficiency (PFFD is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contrast arthrography orMagnetic Resonance Imaging is indicated when radiological features are questionable and to disclose thepresence and location of the femoral head and any cartilagenous anlage. The disorder is more commonlyunilateral and is apparent at birth. However, bilateral involvement is rarely seen. Therapy of the disorder isdirected towards satisfactory ambulation and specific treatment depending on the severity of dysplasia.

  9. Micronutrient deficiency in children.

    Science.gov (United States)

    Bhan, M K; Sommerfelt, H; Strand, T

    2001-05-01

    Malnutrition increases morbidity and mortality and affects physical growth and development, some of these effects resulting from specific micronutrient deficiencies. While public health efforts must be targeted to improve dietary intakes in children through breast feeding and appropriate complementary feeding, there is a need for additional measures to increase the intake of certain micronutrients. Food-based approaches are regarded as the long-term strategy for improving nutrition, but for certain micronutrients, supplementation, be it to the general population or to high risk groups or as an adjunct to treatment must also be considered. Our understanding of the prevalence and consequences of iron, vitamin A and iodine deficiency in children and pregnant women has advanced considerably while there is still a need to generate more knowledge pertaining to many other micronutrients, including zinc, selenium and many of the B-vitamins. For iron and vitamin A, the challenge is to improve the delivery to target populations. For disease prevention and growth promotion, the need to deliver safe but effective amounts of micronutrients such as zinc to children and women of fertile age can be determined only after data on deficiency prevalence becomes available and the studies on mortality reduction following supplementation are completed. Individual or multiple micronutrients must be used as an adjunct to treatment of common infectious diseases and malnutrition only if the gains are substantial and the safety window sufficiently wide. The available data for zinc are promising with regard to the prevention of diarrhea and pneumonia. It should be emphasized that there must be no displacement of important treatment such as ORS in acute diarrhea by adjunct therapy such as zinc. Credible policy making requires description of not only the clinical effects but also the underlying biological mechanisms. As findings of experimental studies are not always feasible to extrapolate to

  10. Orexin deficiency and narcolepsy

    OpenAIRE

    Sakurai, Takeshi

    2013-01-01

    Orexin deficiency results in the sleep disorder narcolepsy in many mammalian species, including mice, dogs, and humans, suggesting that the orexin system is particularly important for normal regulation of sleep/wakefulness states, and especially for maintenance of wakefulness. This review discusses animal models of narcolepsy; the contribution of each orexin receptor subtype to the narcoleptic phenotypes; and the etiology of orexin neuronal death. It also raises the possibility of novel thera...

  11. [Iron deficiency, thrombocytosis and thromboembolism].

    Science.gov (United States)

    Evstatiev, Rayko

    2016-10-01

    Iron deficiency, the most common nutritional deficiency worldwide, is often associated with reactive thrombocytosis. Although secondary thrombocytosis is commonly considered to be harmless, there is accumulating evidence that elevated platelet counts, especially in the setting of iron deficiency, can lead to an increased thromboembolic risk in both arterial and venous systems. Here we present the mechanisms of iron deficiency-induced thrombocytosis and summarize its clinical consequences especially in patients with inflammatory bowel diseases, chronic kidney disease or cancer. We hypothesize that iron deficiency is an underestimated thromboembolic risk factor, and that iron replacement therapy can become an effective preventive strategy in a variety of clinical settings.

  12. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... TV, Video Games, and the Internet Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia Print A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  13. How Is Iron-Deficiency Anemia Treated?

    Science.gov (United States)

    ... the NHLBI on Twitter. How Is Iron-Deficiency Anemia Treated? Treatment for iron-deficiency anemia will depend ... may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is ...

  14. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia A A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  15. Phenylalanine hydroxylase deficiency.

    Science.gov (United States)

    Mitchell, John J; Trakadis, Yannis J; Scriver, Charles R

    2011-08-01

    Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity and without dietary restriction of phenylalanine most children will develop profound and irreversible intellectual disability. Mild phenylketonuria and mild hyperphenylalaninemia are associated with lower risk of impaired cognitive development in the absence of treatment. Phenylalanine hydroxylase deficiency can be diagnosed by newborn screening based on detection of the presence of hyperphenylalaninemia using the Guthrie microbial inhibition assay or other assays on a blood spot obtained from a heel prick. Since the introduction of newborn screening, the major neurologic consequences of hyperphenylalaninemia have been largely eradicated. Affected individuals can lead normal lives. However, recent data suggest that homeostasis is not fully restored with current therapy. Treated individuals have a higher incidence of neuropsychological problems. The mainstay of treatment for hyperphenylalaninemia involves a low-protein diet and use of a phenylalanine-free medical formula. This treatment must commence as soon as possible after birth and should continue for life. Regular monitoring of plasma phenylalanine and tyrosine concentrations is necessary. Targets of plasma phenylalanine of 120-360 μmol/L (2-6 mg/dL) in the first decade of life are essential for optimal outcome. Phenylalanine targets in adolescence and adulthood are less clear. A significant proportion of patients with phenylketonuria may benefit from adjuvant therapy with 6R-tetrahydrobiopterin stereoisomer. Special consideration must be

  16. Iatrogenic nutritional deficiencies.

    Science.gov (United States)

    Young, R C; Blass, J P

    1982-01-01

    This article catalogs the nutritional deficiencies inadvertently introduced by certain treatment regimens. Specifically, the iatrogenic effects on nutrition of surgery, hemodialysis, irradiation, and drugs are reviewed. Nutritional problems are particularly frequent consequences of surgery on the gastrointestinal tract. Gastric surgery can lead to deficiencies of vitamin B12, folate, iron, and thiamine, as well as to metabolic bone disease. The benefits of small bowel bypass are limited by the potentially severe nutritional consequences of this procedure. Following bypass surgery, patients should be monitored for signs of possible nutritional probems such as weight loss, neuropathy, cardiac arrhythmias, loss of stamina, or changes in mental status. Minimal laboratory tests should include hematologic evaluation, B12, folate, iron, albumin, calcium, phosphorus, alkaline phosphatase, transaminases, sodium, potassium, chloride, and carbon dioxide levels. Roentgenologic examination of the bone should also be obtained. Loss of bone substance is a major consequence of many forms of treatment, and dietary supplementation with calcium is warranted. Patients undergoing hemodialysis have shown carnitine and choline deficiencies, potassium depletion, and hypovitaminosis, as well as osteomalacia. Chronic drug use may alter intake, synthesis, absorption, transport, storage, metabolism, or excretion of nutrients. Patients vary markedly in the metabolic effects of drugs, and recommendations for nutrition must be related to age, sex, reproductive status, and genetic endowment. Moreover, the illness being treated can itself alter nutritional requirements and the effect of the treatment on nutrient status. The changes in nutritional levels induced by use of estrogen-containing oral contraceptives (OCs) are obscure; however, the effects on folate matabolism appear to be of less clinical import than previously suggested. Reduction in pyridoxine and serum vitamin B12 levels has been

  17. Treatment of carnitine deficiency.

    Science.gov (United States)

    Winter, S C

    2003-01-01

    Carnitine deficiency is a secondary complication of many inborn errors of metabolism. Pharmacological treatment with carnitine not only corrects the deficiency, it facilitates removal of accumulating toxic acyl intermediates and the generation of mitochondrial free coenzyme A (CoA). The United States Food and Drug Administration (US FDA) approved the use of carnitine for the treatment of inborn errors of metabolism in 1992. This approval was based on retrospective chart analysis of 90 patients, with 18 in the untreated cohort and 72 in the treated cohort. Efficacy was evaluated on the basis of clinical and biochemical findings. Compelling data included increased excretion of disease-specific acylcarnitine derivatives in a dose-response relationship, decreased levels of metabolites in the blood, and improved clinical status with decreased hospitalization frequency, improved growth and significantly lower mortality rates as compared to historical controls. Complications of carnitine treatment were few, with gastrointestinal disturbances and odour being the most frequent. No laboratory or clinical safety issues were identified. Intravenous carnitine preparations were also approved for treatment of secondary carnitine deficiency. Since only 25% of enteral carnitine is absorbed and gastrointestinal tolerance of high doses is poor, parenteral carnitine treatment is an appealing alternative therapeutic approach. In 7 patients treated long term with high-dose weekly to daily venous boluses of parenteral carnitine through a subcutaneous venous port, benefits included decreased frequency of decompensations, improved growth, improved muscle strength and decreased reliance on medical foods with liberalization of protein intake. Port infections were the most troubling complication. Theoretical concerns continue to be voiced that carnitine might result in fatal arrhythmias in patients with long-chain fat metabolism defects. No published clinical studies substantiate these

  18. Phosphorus Deficiency in Ducklins

    Institute of Scientific and Technical Information of China (English)

    CuiHengmin; LuoLingping

    1995-01-01

    20 one-day-old Tianfu ducklings were fed on a natural diet deficient in phosphorus(Ca 0.80%,P 0.366%)for three weeks and examined for signs and lesions.Signs began to appear at the age of one week,and became serous at two weeks.13 ducklings died during the experiment.Morbidity was 100% and mortality was 65%.The affected ducklings mainly showed leg weakness,severe lamencess,deprssion,lack of appetite and stunted growth,The serum alkaline phosphatase activities increased markedly.The serum phosphorus concentration,tibial ash,ash calcium and phosphorus content decreased obviously.At necropsy,maxillae and ribe were soft,and the latter was crooked.Long ones were soft and broke easily.The hypertrophic zone of the growth-plate in the epiphysis of long ones was lengthened and osteoid tissue increased in the metaphyseal spongiosa histopathologically.The above mentioned symptoms and lesions could be prevented by adding phosphorus to the natural deficient diet(up to 0.65%),The relationship between lesions and signs,pathomorphological characterisation and pathogensis were also discussed in this paper.

  19. Glucose-6-phosphatase deficiency

    Directory of Open Access Journals (Sweden)

    Labrune Philippe

    2011-05-01

    Full Text Available Abstract Glucose-6-phosphatase deficiency (G6P deficiency, or glycogen storage disease type I (GSDI, is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea. Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty, generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency. GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib. Mutations in the genes G6PC (17q21 and SLC37A4 (11q23 respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most

  20. Glucose-6-phosphatase deficiency.

    Science.gov (United States)

    Froissart, Roseline; Piraud, Monique; Boudjemline, Alix Mollet; Vianey-Saban, Christine; Petit, François; Hubert-Buron, Aurélie; Eberschweiler, Pascale Trioche; Gajdos, Vincent; Labrune, Philippe

    2011-05-20

    Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed

  1. Management of Iron Deficiency Anemia

    OpenAIRE

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie; Gasche, Christoph

    2015-01-01

    Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blo...

  2. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

    Iron deficiency anemia still remains problematic worldwide. Iron deficiency without anemia is often undiagnosed. We reviewed, in this study, symptoms and syndromes associated with iron deficiency with or without anemia: fatigue, cognitive functions, restless legs syndrome, hair loss, and chronic heart failure. Iron is absorbed through the digestive tract. Hepcidin and ferroportin are the main proteins of iron regulation. Pathogenic micro-organisms or intestinal dysbiosis are suspected to influence iron absorption. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  3. Nutritional deficiencies after bariatric surgery.

    Science.gov (United States)

    Bal, Bikram S; Finelli, Frederick C; Shope, Timothy R; Koch, Timothy R

    2012-09-01

    Lifestyle intervention programmes often produce insufficient weight loss and poor weight loss maintenance. As a result, an increasing number of patients with obesity and related comorbidities undergo bariatric surgery, which includes approaches such as the adjustable gastric band or the 'divided' Roux-en-Y gastric bypass (RYGB). This Review summarizes the current knowledge on nutrient deficiencies that can develop after bariatric surgery and highlights follow-up and treatment options for bariatric surgery patients who develop a micronutrient deficiency. The major macronutrient deficiency after bariatric surgery is protein malnutrition. Deficiencies in micronutrients, which include trace elements, essential minerals, and water-soluble and fat-soluble vitamins, are common before bariatric surgery and often persist postoperatively, despite universal recommendations on multivitamin and mineral supplements. Other disorders, including small intestinal bacterial overgrowth, can promote micronutrient deficiencies, especially in patients with diabetes mellitus. Recognition of the clinical presentations of micronutrient deficiencies is important, both to enable early intervention and to minimize long-term adverse effects. A major clinical concern is the relationship between vitamin D deficiency and the development of metabolic bone diseases, such as osteoporosis or osteomalacia; metabolic bone diseases may explain the increased risk of hip fracture in patients after RYGB. Further studies are required to determine the optimal levels of nutrient supplementation and whether postoperative laboratory monitoring effectively detects nutrient deficiencies. In the absence of such data, clinicians should inquire about and treat symptoms that suggest nutrient deficiencies.

  4. Iron deficiency and iron deficiency anemia in women.

    Science.gov (United States)

    Coad, Jane; Pedley, Kevin

    2014-01-01

    Iron deficiency is one of the most common nutritional problems in the world and disproportionately affects women and children. Stages of iron deficiency can be characterized as mild deficiency where iron stores become depleted, marginal deficiency where the production of many iron-dependent proteins is compromised but hemoglobin levels are normal and iron deficiency anemia where synthesis of hemoglobin is decreased and oxygen transport to the tissues is reduced. Iron deficiency anemia is usually assessed by measuring hemoglobin levels but this approach lacks both specificity and sensitivity. Failure to identify and treat earlier stages of iron deficiency is concerning given the neurocognitive implications of iron deficiency without anemia. Most of the daily iron requirement is derived from recycling of senescent erythrocytes by macrophages; only 5-10 % comes from the diet. Iron absorption is affected by inhibitors and enhancers of iron absorption and by the physiological state. Inflammatory conditions, including obesity, can result in iron being retained in the enterocytes and macrophages causing hypoferremia as a strategic defense mechanism to restrict iron availability to pathogens. Premenopausal women usually have low iron status because of iron loss in menstrual blood. Conditions which further increase iron loss, compromise absorption or increase demand, such as frequent blood donation, gastrointestinal lesions, athletic activity and pregnancy, can exceed the capacity of the gastrointestinal tract to upregulate iron absorption. Women of reproductive age are at particularly high risk of iron deficiency and its consequences however there is a controversial argument that evolutionary pressures have resulted in an iron deficient phenotype which protects against infection.

  5. Iodine deficiency in Europe.

    Science.gov (United States)

    Delange, F

    1995-01-18

    Iodine is a trace element present in the human body in minute amounts (15-20 mg in adults, i.e. 0.0285 x 10(-3)% of body weight). The only confirmed function of iodine is to constitute an essential substrate for the synthesis of thyroid hormones, tetraiodothyronine, thyroxine or T4 and triiodothyronine, T3 (1). In thyroxine, iodine is 60% by weight. Thyroid hormones, in turn, play a decisive role in the metabolism of all cells of the organism (2) and in the process of early growth and development of most organs, especially of the brain (3). Brain development in humans occurs from fetal life up to the third postnatal year (4). Consequently, a deficit in iodine and/or in thyroid hormones occurring during this critical period of life will result not only in the slowing down of the metabolic activities of all the cells of the organism but also in irreversible alterations in the development of the brain. The clinical consequence will be mental retardation (5). When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities occur (Table 1), including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic mental retardation, decreased fertility rate, increased perinatal death, and infant mortality. These complications, which constitute an hindrance to the development of the affected population, are grouped under the general heading of Iodine Deficiency Disorders, IDD (6). Broad geographic areas exist in which the population is affected by IDD.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Iron deficiency anemia in children

    OpenAIRE

    Pochinok, T. V.

    2016-01-01

    In the article the role of iron in the human body is highlighted. The mechanism of development of iron deficiency states, their consequences and the basic principles of diagnosis and correction of children of different ages are shown.Key words: children, iron deficiency anemia, treatment.

  7. Iron deficiency and cardiovascular disease

    NARCIS (Netherlands)

    von Haehling, Stephan; Jankowska, Ewa A.; van Veldhuisen, Dirk J.; Ponikowski, Piotr; Anker, Stefan D.

    2015-01-01

    Iron deficiency affects up to one-third of the world's population, and is particularly common in elderly individuals and those with certain chronic diseases. Iron excess can be detrimental in cardiovascular illness, and research has now also brought anaemia and iron deficiency into the focus of card

  8. Newborn screening for MCAD deficiency

    DEFF Research Database (Denmark)

    Horvath, Gabriella A; Davidson, A G F; Stockler-Ipsiroglu, Sylvia G

    2008-01-01

    BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of ...

  9. Iron deficiency anemia in children.

    Science.gov (United States)

    Subramaniam, Girish; Girish, Meenakshi

    2015-06-01

    Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis. Absence of response to iron should make us look for other differential diagnosis like β thalassemia trait and anemia of chronic disease. Celiac disease is the most important cause of true IDA not responding to oral iron therapy. While oral ferrous sulphate is the cheapest and most effective therapy for IDA, simple nonpharmacological and pharmacological measures can go a long way in prevention of iron deficiency.

  10. Genetics Home Reference: protein C deficiency

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ... my area? Other Names for This Condition hereditary thrombophilia due to protein C deficiency PROC deficiency Related ...

  11. Genetics Home Reference: glutathione synthetase deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions glutathione synthetase deficiency glutathione synthetase deficiency Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Glutathione synthetase deficiency is a disorder that prevents the ...

  12. Genetics Home Reference: GLUT1 deficiency syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions GLUT1 deficiency syndrome GLUT1 deficiency syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description GLUT1 deficiency syndrome is a disorder affecting the nervous ...

  13. Genetics Home Reference: familial HDL deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions familial HDL deficiency familial HDL deficiency Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Familial HDL deficiency is a condition characterized by low levels ...

  14. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ... in my area? Other Names for This Condition dwarfism, growth hormone deficiency dwarfism, pituitary growth hormone deficiency ...

  15. Genetics Home Reference: lactate dehydrogenase deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions lactate dehydrogenase deficiency lactate dehydrogenase deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Lactate dehydrogenase deficiency is a condition that affects how the ...

  16. Iron deficiency and thrombocytosis.

    Science.gov (United States)

    Holbro, A; Volken, T; Buser, A; Sigle, J P; Halter, J P; Passweg, J R; Tichelli, A; Infanti, L

    2017-01-01

    According to many textbooks, iron deficiency (ID) is associated with reactive thrombocytosis. In this study, we aimed to investigate the correlation between serum ferritin levels and platelet counts in a large cohort of healthy blood donors. We included all whole blood and apheresis donors aged 18 years or older with at least one ferritin measurement and one platelet count performed at the same visit between 1996 and 2014. A total of 130 345 blood counts and ferritin measurements obtained from 22 046 healthy donors were analysed. Overall, no correlation between serum ferritin and platelet count was observed (r = -0.03, ρ = 0.04 for males, and r = 0.01, ρ = -0.02 for females, respectively). Associations remained clinically negligible after adjusting for age, time since previous blood donation, number of donations and restricting the analysis to ferritin deciles. In this large, retrospective single-centre study, correlations between low ferritin and platelet count in a large and homogeneous cohort of healthy donors were negligible. Further studies in patients with more severe anaemia and patients with inflammation are warranted. © 2016 International Society of Blood Transfusion.

  17. Iron Deficiency Anemia in Pregnancy.

    Science.gov (United States)

    Breymann, Christian

    2015-10-01

    Anemia is a common problem in obstetrics and perinatal care. Any hemoglobin below 10.5 g/dL can be regarded as true anemia regardless of gestational age. Reasons for anemia in pregnancy are mainly nutritional deficiencies, parasitic and bacterial diseases, and inborn red blood cell disorders such as thalassemias. The main cause of anemia in obstetrics is iron deficiency, which has a worldwide prevalence between estimated 20%-80% and consists of a primarily female population. Stages of iron deficiency are depletion of iron stores, iron-deficient erythropoiesis without anemia, and iron deficiency anemia, the most pronounced form of iron deficiency. Pregnancy anemia can be aggravated by various conditions such as uterine or placental bleedings, gastrointestinal bleedings, and peripartum blood loss. In addition to the general consequences of anemia, there are specific risks during pregnancy for the mother and the fetus such as intrauterine growth retardation, prematurity, feto-placental miss ratio, and higher risk for peripartum blood transfusion. Besides the importance of prophylaxis of iron deficiency, the main therapy options for the treatment of pregnancy anemia are oral iron and intravenous iron preparations.

  18. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... Merck Manual Home Edition for Patients and Caregivers: Thrombophilia National Blood Clot Alliance: Antithrombin Deficiency Orphanet: Hereditary thrombophilia due to congenital antithrombin deficiency Patient Support and ...

  19. [Niacin deficiency and cutaneous immunity].

    Science.gov (United States)

    Ikenouchi-Sugita, Atsuko; Sugita, Kazunari

    2015-01-01

    Niacin, also known as vitamin B3, is required for the synthesis of coenzymes, nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP). Niacin binds with G protein-coupled receptor (GPR) 109A on cutaneous Langerhans cells and causes vasodilation with flushing in head and neck area. Niacin deficiency due to excessive alcohol consumption, certain drugs or inadequate uptake in diet causes pellagra, a photosensitivity dermatitis. Recently several studies have revealed the mechanism of photosensitivity in niacin deficiency, which may pave a way for new therapeutic approaches. The expression level of prostaglandin E synthase (PTGES) is up-regulated in the skin of both pellagra patients and niacin deficient pellagra mouse models. In addition, pellagra is mediated through prostaglandin E₂-EP4 (PGE₂-EP4) signaling via reactive oxygen species (ROS) production in keratinocytes. In this article, we have reviewed the role of niacin in immunity and the mechanism of niacin deficiency-induced photosensitivity.

  20. Genetics Home Reference: transcobalamin deficiency

    Science.gov (United States)

    ... deficiency often develop a blood disorder called megaloblastic anemia . Megaloblastic anemia results in a shortage of red blood cells, ... and Prevention: Intellectual Disability (PDF) Children's Hospital Boston: Megaloblastic Pernicious Anemia Children's Hospital Boston: White Blood Cell Disorders CLIMB: ...

  1. Genetics Home Reference: prolidase deficiency

    Science.gov (United States)

    ... Cetta G, Forlino A. Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations. Amino Acids. 2008 Nov;35(4):739-52. doi: 10. ...

  2. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. POMC gene mutations that cause POMC deficiency result in production ...

  3. Helicobacterpy loriinfection and micronutrient deficiencies

    Institute of Scientific and Technical Information of China (English)

    Javed Yakoob; Wasim Jafri; Shahab Abid

    2003-01-01

    It is known that deficiencies of micronutrients due to infections increase morbidity and mortality. This phenomenon depicts itself conspicuously in developing countries.Deficiencies of iron, vitamins A, E, C, B12, etc are widely prevalent among populations living in the third world countries. Helicobacterpylori (Hpylori) infection has a high prevalence throughout the world. Deficiencies of several micronutrients due to Hpylori infection may be concomitantly present and vary from subtle sub-clinical states to severe clinical disorders. These essential trace elementsl micronutrients are involved in host defense mechanisms,maintaining epithelial cell integrity, glycoprotein synthesis,transport mechanisms, myocardial contractility, brain development, cholesterol and glucose metabolism. In this paper Hpyloriinfection in associaed with various micronutrients deficiencies is briefly reviewed.

  4. Vitamin D deficiency in adolescents

    OpenAIRE

    Ashraf T Soliman; Vincenzo De Sanctis; Rania Elalaily; Said Bedair; Islam Kassem

    2014-01-01

    The prevalence of severe vitamin D deficiency (VDD) in adolescents is variable but considerably high in many countries, especially in Middle-east and Southeast Asia. Different factors attribute to this deficiency including lack of sunlight exposure due to cultural dress codes and veiling or due to pigmented skin, and less time spent outdoors, because of hot weather, and lower vitamin D intake. A potent adaptation process significantly modifies the clinical presentation and therefore clinical ...

  5. Iron deficiency and cognitive functions

    OpenAIRE

    Jáuregui-Lobera I

    2014-01-01

    Ignacio Jáuregui-Lobera Department of Nutrition and Bromatology, Pablo de Olavide University, Seville, Spain Abstract: Micronutrient deficiencies, especially those related to iodine and iron, are linked to different cognitive impairments, as well as to potential long-term behavioral changes. Among the cognitive impairments caused by iron deficiency, those referring to attention span, intelligence, and sensory perception functions are mainly cited, as well as those associated with...

  6. Iron deficiency and cognitive functions

    OpenAIRE

    Jáuregui-Lobera I

    2014-01-01

    Ignacio Jáuregui-Lobera Department of Nutrition and Bromatology, Pablo de Olavide University, Seville, Spain Abstract: Micronutrient deficiencies, especially those related to iodine and iron, are linked to different cognitive impairments, as well as to potential long-term behavioral changes. Among the cognitive impairments caused by iron deficiency, those referring to attention span, intelligence, and sensory perception functions are mainly cited, as well as those associated with...

  7. Clinical manifestation of myeloperoxidase deficiency.

    Science.gov (United States)

    Lanza, F

    1998-09-01

    Myeloperoxidase (MPO), an iron-containing heme protein localized in the azurophilic granules of neutrophil granulocytes and in the lysosomes of monocytes, is involved in the killing of several micro-organisms and foreign cells, including bacteria, fungi, viruses, red cells, and malignant and nonmalignant nucleated cells. Despite the primary role of the oxygen-dependent MPO system in the destruction of certain phagocytosed microbes, subjects with total or partial MPO deficiency generally do not have an increased frequency of infections, probably because other MPO-independent mechanism(s) for microbicidal activity compensate for the lack of MPO. Infectious diseases, especially with species of Candida, have been observed predominantly in MPO-deficient patients who also have diabetes mellitus, but the frequency of such cases is very low, less than 5% of reported MPO-deficient subjects. Evidence from a number of investigators indicates that individuals with total MPO deficiency show a high incidence of malignant tumors. Since MPO-deficient PMNs exhibit in vitro a depressed lytic action against malignant human cells, it can be speculated that the neutrophil MPO system plays a central role in the tumor surveillance of the host. However, any definitive conclusion on the association between MPO deficiency and the occurrence of cancers needs to be confirmed in further clinical studies. Clinical manifestations of this disorder depend on the nature of the defect; an acquired abnormality associated with other hematological or nonhematological diseases has been occasionally described, but the primary deficiency is the form more commonly reported. Another area of interest pertinent to MPO expression is related to the use of anti-MPO monoclonal antibodies for the lineage assignment of acute leukemic cells, the definition of FAB MO acute myeloid leukemia, the identification of biphenotypic acute leukemias, and their distinction from acute leukemia with minimal phenotypic deviation

  8. [Iron deficiency and iron deficiency anemia are global health problems].

    Science.gov (United States)

    Dahlerup, Jens; Lindgren, Stefan; Moum, Björn

    2015-03-10

    Iron deficiency and iron deficiency anemia are global health problems leading to deterioration in patients' quality of life and more serious prognosis in patients with chronic diseases. The cause of iron deficiency and anemia is usually a combination of increased loss and decreased intestinal absorption and delivery from iron stores due to inflammation. Oral iron is first line treatment, but often hampered by intolerance. Intravenous iron is safe, and the preferred treatment in patients with chronic inflammation and bowel diseases. The goal of treatment is normalisation of hemoglobin concentration and recovery of iron stores. It is important to follow up treatment to ensure that these objectives are met and also long-term in patients with chronic iron loss and/or inflammation to avoid recurrence of anemia.

  9. Iron deficiency in blood donors

    Directory of Open Access Journals (Sweden)

    Armando Cortés

    2005-03-01

    Full Text Available Context: Blood donation results in a substantial loss of iron (200 to 250 mg at each bleeding procedure (425 to 475 ml and subsequent mobilization of iron from body stores. Recent reports have shown that body iron reserves generally are small and iron depletion is more frequent in blood donors than in non-donors. Objective: The aim of this study was to evaluate the frequency of iron deficiency in blood donors and to establish the frequency of iron deficiency in blood donors according to sex, whether they were first-time or multi-time donors. Design: From march 20 to April 5, 2004, three hundred potential blood donors from Hemocentro del Café y Tolima Grande were studied. Diagnostic tests: Using a combination of biochemical measurements of iron status: serum ferritin (RIA, ANNAR and the hemoglobin pre and post-donation (HEMOCUE Vital technology medical . Results: The frequency of iron deficiency in potential blood donors was 5%, and blood donors accepted was 5.1%; in blood donors rejected for low hemoglobin the frequency of iron deficiency was 3.7% and accepted blood donors was 1.7% in male and 12.6% in female. The frequency of iron deficiency was higher in multi-time blood donors than in first-time blood donors, but not stadistic significative. Increase nivel accepted hemoglobina in 1 g/dl no incidence in male; in female increase of 0.5 g/dl low in 25% blood donors accepted with iron deficiency, but increased rejected innecesary in 16.6% and increased is 1 g/dl low blood donors female accepted in 58% (7/12, but increased the rejected innecesary in 35.6%. Conclusions: We conclude that blood donation not is a important factor for iron deficiency in blood donors. The high frequency of blood donors with iron deficiency found in this study suggests a need for a more accurate laboratory trial, as hemoglobin or hematocrit measurement alone is not sufficient for detecting and excluding blood donors with iron deficiency without anemia, and ajustes hacia

  10. Iron deficiency and cardiovascular disease.

    Science.gov (United States)

    von Haehling, Stephan; Jankowska, Ewa A; van Veldhuisen, Dirk J; Ponikowski, Piotr; Anker, Stefan D

    2015-11-01

    Iron deficiency affects up to one-third of the world's population, and is particularly common in elderly individuals and those with certain chronic diseases. Iron excess can be detrimental in cardiovascular illness, and research has now also brought anaemia and iron deficiency into the focus of cardiovascular medicine. Data indicate that iron deficiency has detrimental effects in patients with coronary artery disease, heart failure (HF), and pulmonary hypertension, and possibly in patients undergoing cardiac surgery. Around one-third of all patients with HF, and more than one-half of patients with pulmonary hypertension, are affected by iron deficiency. Patients with HF and iron deficiency have shown symptomatic improvements from intravenous iron administration, and some evidence suggests that these improvements occur irrespective of the presence of anaemia. Improved exercise capacity has been demonstrated after iron administration in patients with pulmonary hypertension. However, to avoid iron overload and T-cell activation, it seems that recipients of cardiac transplantations should not be treated with intravenous iron preparations.

  11. [Vitamin A deficiency and xerophtalmia

    Science.gov (United States)

    Diniz, A da S; Santos, L M

    2000-11-01

    OBJECTIVE: To review cases of vitamin A deficiency and the effects of vitamin A supplementation on child morbidity and mortality. METHODS: Articles published in scientific journals, technical and scientific books, and also publications by international organizations were used as source of information. RESULTS: Clinical manifestations of xerophthalmia affect the retina (night blindness), the conjunctiva (conjunctival xerosis, with or without Bitot spots), and the cornea (corneal xerosis). Corneal xerosis may lead to corneal ulceration and liquefactive necrosis (keratomalacia). A priori, these signs and symptoms are the best indicators of vitamin A deficiency; they are, however, extremely rare. Laboratory indicators include Conjunctival Impression Cytology and serum retinol concentrations. The World Health Organization (WHO) recommends the use of two biological markers in order to characterize vitamin A deficiency in a given population. If only one biological marker is used, this marker has to be backed up by a set of at least four additional risk factors. Corneal xerophthalmia should be treated as a medical emergency; In the event of suspected vitamin A deficiency, a 200,000 IU vitamin A dose should be administered orally, repeating the dose after 24 hours (half the dose for infants younger than one year). Vitamin A supplementation in endemic areas may cause a 23 to 30% reduction in the mortality rate of children aged between 6 months and five years, and attenuate the severity of diarrhea. The methods for the control of vitamin A deficiency are available in the short (supplementation with megadoses), medium (food fortification), and long run (diet diversification). CONCLUSION: There is evidence of vitamin A deficiency among Brazilian children. Pediatricians must be aware of the signs and symptoms of this disease, however sporadic they might be. It is of paramount importance that vitamin A be included in public policy plans so that we can ensure the survival of

  12. [Phosphate metabolism and iron deficiency].

    Science.gov (United States)

    Yokoyama, Keitaro

    2016-02-01

    Autosomal dominant hypophosphatemic rickets(ADHR)is caused by gain-of-function mutations in FGF23 that prevent its proteolytic cleavage. Fibroblast growth factor 23(FGF23)is a hormone that inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D biosynthesis. Low iron status plays a role in the pathophysiology of ADHR. Iron deficiency is an environmental trigger that stimulates FGF23 expression and hypophosphatemia in ADHR. It was reported that FGF23 elevation in patients with CKD, who are often iron deficient. In patients with nondialysis-dependent CKD, treatment with ferric citrate hydrate resulted in significant reductions in serum phosphate and FGF23.

  13. Iron deficiency in the tropics.

    Science.gov (United States)

    Fleming, A F

    1982-06-01

    Iron in food is classified as belonging to the haem pool, the nonhaem pool, and extraneous sources. Haem iron is derived from vegetable and animal sources with varying bioavailability. Hookworm infestation of the intestinal tract affects 450 million people in the tropics. Schistosoma mansoni caused blood loss in 7 Egyptian patients of 7.5- 25.9 ml/day which is equivalent to a daily loss of iron of .6-7.3 mg daily urinary loss of iron in 9 Egyptian patients. Trichuris trichiura infestation by whipworm is widespread in children with blood loss of 5 ml/day/worm. The etiology of anemia in children besides iron deficiency includes malaria, bacterial or viral infections, folate deficiency and sickle-cell disease. Severe infections cause profound iron-deficiency anemia in children in central American and Malaysia. Plasmodium falciparum malaria-induced anaemia in tropical Africa lowers the mean haemoglobin concentration in the population by 2 g/dI, causing profound anaemia in some. The increased risk of premature delivery, low birthweight, fetal abnormalities, and fetal death is directly related to the degree of maternal anemia. Perinatal mortality was reduced from 38 to 4% in treated anemic mothers. Mental performance was significantly lower in anemic school children and improved after they received iron. Supplements of iron, soy-protein, calcium, and vitamins given to villagers with widespread malnutrition, iron deficiency, and hookworm infestation in Colombia reduced enteric infections in children. Severe iron-deficiency anemia was treated in adults in northern Nigeria by daily in Ferastral 10 ml, which is equivalent to 500 mg of iron per day. Choloroquine, folic acid, rephenium hydroxynaphthoate, and tetrachlorethylene treat adults with severe iron deficiency from hookworm infestation in rural tropical Africa. Blood transfusion is indicated if the patient is dying of anaemia or is pregnant with a haemoglobin concentration 6 gm/dl. In South East Asia, mg per day

  14. Differential diagnosis of iron deficiency

    OpenAIRE

    2010-01-01

    A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro. Neste artigo são brevemente descritas outras condições que podem cursar com anemia microcítica, tais como: talassemias, anemia de doença crônica, anemia sideroblástica e envenenamento por chumbo, patologias estas que devem ser afastadas dura...

  15. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency

    NARCIS (Netherlands)

    Boer, L. de; Kluijtmans, L.A.J.; Morava, E.

    2013-01-01

    Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 muM, normal 20-55 muM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value. At the age of

  16. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Citation on PubMed GeneReview: CLPB Deficiency Kanabus M, Shahni R, Saldanha JW, Murphy E, ... 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Citation on ...

  17. Educational paper: Primary antibody deficiencies

    NARCIS (Netherlands)

    G.J.A. Driessen (Gertjan); M. van der Burg (Mirjam)

    2011-01-01

    textabstractPrimary antibody deficiencies (PADs) are the most common primary immunodeficiencies and are characterized by a defect in the production of normal amounts of antigen-specific antibodies. PADs represent a heterogeneous spectrum of conditions, ranging from often asymptomatic selective IgA a

  18. Deficiencies in Indian Joint Operations

    Science.gov (United States)

    2016-05-26

    compartmentalization, and bureaucratic inefficiencies. Indian regional hegemony in South Asia faces significant risks without critically needed reforms to enable...illustrates India’s limited capability to conduct joint operations. Specifically, India demonstrated critical planning deficiencies in joint...society, and this has influenced its understanding of theory and concepts, and its application of those ideas in the development of its own joint

  19. 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.

  20. Deferasirox in pyruvate kinase deficiency

    OpenAIRE

    Deeren, Dries

    2008-01-01

    Deferasirox in pyruvate kinase deficiency phone: +32-51-237437 (Deeren, Dries) (Deeren, Dries) Department of Haematology, Heilig-Hartziekenhuis Roeselare-Menen vzw - Wilgenstraat 2 - B-8800 - Roeselare - BELGIUM (Deeren, Dries) BELGIUM Registration: 2008-09-10 Received: 2008-09-05 Accepted: 2008-09-10 ePublished: 2008-09-23

  1. Epigenetic Deficiencies and Replicative Stress

    DEFF Research Database (Denmark)

    Shoaib, Muhammad; Sørensen, Claus Storgaard

    2015-01-01

    Cancer cell-specific synthetic lethal interactions entail promising therapeutic possibilities. In this issue of Cancer Cell, Pfister et al. describe a synthetic lethal interaction where cancer cells deficient in H3K36me3 owing to SETD2 loss-of-function mutation are strongly sensitized to inhibiti...

  2. Management of Iron Deficiency Anemia

    Science.gov (United States)

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie

    2015-01-01

    Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blood transfusions. Treatment options include oral and intravenous iron therapy; however, the efficacy of oral iron is limited in certain gastrointestinal conditions, such as inflammatory bowel disease, celiac disease, and autoimmune gastritis. This article provides a critical summary of the diagnosis and treatment of iron deficiency anemia. In addition, it includes a management algorithm that can help the clinician determine which patients are in need of further gastrointestinal evaluation. This facilitates the identification and treatment of the underlying condition and avoids the unnecessary use of invasive methods and their associated risks. PMID:27099596

  3. Congenital β-lipoprotein deficiency

    NARCIS (Netherlands)

    Buchem, F.S.P. van; Pol, G.; Gier, J. de; Böttcher, C.J.F.; Pries, C.

    1966-01-01

    There are several degrees of β-lipoprotein deficiency. If there is no β-lipoprotein present, or if there are only traces of it, the Bassen-Kornzweig syndrome develops. A constant feature of this syndrome is disturbed fat absorption with accumulation of fat in the epithelium of intestinal mucosa and

  4. Genetics Home Reference: protein S deficiency

    Science.gov (United States)

    ... my area? Other Names for This Condition hereditary thrombophilia due to protein S deficiency Related Information How are ... Merck Manual Home Edition for Patients and Caregivers: Thrombophilia Orphanet: Hereditary thrombophilia due to congenital protein S deficiency ...

  5. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  6. Identifying Causes of Job Performance Deficiencies.

    Science.gov (United States)

    Herem, Maynard A.

    1979-01-01

    A model to guide the search for types of performance deficiencies is set forth within the general framework of systems theory. Five types of problems, singly or in combination, are discussed as causes of deficiencies. (Author)

  7. Iron deficiency--facts and fallacies.

    Science.gov (United States)

    Oski, F A

    1985-04-01

    Iron deficiency occurs in all strata of society, is primarily a result of postnatal feeding practices and not due to congenital deficiencies of iron, can be prevented by appropriate dietary guidance, and, when present, produces important nonhematologic manifestations.

  8. Genetics Home Reference: factor VII deficiency

    Science.gov (United States)

    ... VII deficiency , is caused by mutations in the F7 gene, which provides instructions for making a protein ... about the gene associated with factor VII deficiency F7 Related Information What is a gene? What is ...

  9. Facts about Vitamin K Deficiency Bleeding

    Science.gov (United States)

    ... this? Submit Button Information For… Media Policy Makers Facts about Vitamin K Deficiency Bleeding Recommend on Facebook ... deficiency and VKDB? Protect Your Baby from Bleeds Fact Sheet   Download and print this fact ...

  10. IRON DEFICIENCY IN RURAL GHANAIAN CHILDREN

    African Journals Online (AJOL)

    2001-05-05

    May 5, 2001 ... School of Medical Sciences, University of Science and Technology, ... as controls and newly diagnosed iron-deficient children entering as in-patients. ..... WalterT., Kovacisky J. and Stekel A. Effect of mild iron deficiency.

  11. Genetics Home Reference: primary carnitine deficiency

    Science.gov (United States)

    ... Filippo CA, Pasquali M, Berry SA, Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol ... deficiency disorders in children. Ann N Y Acad Sci. 2004 Nov;1033:42-51. Review. Citation on ...

  12. Genetics Home Reference: corticosterone methyloxidase deficiency

    Science.gov (United States)

    ... levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also ... acid in the blood (metabolic acidosis). The hyponatremia, hyperkalemia, and metabolic acidosis associated with corticosterone methyloxidase deficiency ...

  13. Cobalamin deficiency, hyperhomocysteinemia, and dementia

    Directory of Open Access Journals (Sweden)

    Steven F Werder

    2010-04-01

    Full Text Available Steven F Werder1,21Kansas University School of Medicine – Wichita, Wichita, KS, USA; 2Community Health Center of Southeast Kansas, Pittsburg, KS, USAIntroduction: Although consensus guidelines recommend checking serum B12 in patients with dementia, clinicians are often faced with various questions: (1 Which patients should be tested? (2 What test should be ordered? (3 How are inferences made from such testing? (4 In addition to serum B12, should other tests be ordered? (5 Is B12 deficiency compatible with dementia of the Alzheimer’s type? (6 What is to be expected from treatment? (7 How is B12 deficiency treated?Methods: On January 31st, 2009, a Medline search was performed revealing 1,627 citations related to cobalamin deficiency, hyperhomocysteinemia, and dementia. After limiting the search terms, all abstracts and/or articles and other references were categorized into six major groups (general, biochemistry, manifestations, associations and risks, evaluation, and treatment and then reviewed in answering the above questions.Results: The six major groups above are described in detail. Seventy-five key studies, series, and clinical trials were identified. Evidence-based suggestions for patient management were developed.Discussion: Evidence is convincing that hyperhomocysteinemia, with or without hypovitaminosis B12, is a risk factor for dementia. In the absence of hyperhomocysteinemia, evidence is less convincing that hypovitaminosis B12 is a risk factor for dementia. B12 deficiency manifestations are variable and include abnormal psychiatric, neurological, gastrointestinal, and hematological findings. Radiological images of individuals with hyperhomocysteinemia frequently demonstrate leukoaraiosis. Assessing serum B12 and treatment of B12 deficiency is crucial for those cases in which pernicious anemia is suspected and may be useful for mild cognitive impairment and mild to moderate dementia. The serum B12 level is the standard initial test

  14. Cobalamin deficiency in children: A literature review

    OpenAIRE

    Moen, Synne Helland

    2013-01-01

    Objective: The aim of this review is to present cobalamin deficiency in children with a specific focus on infants. Background: Cobalamin deficiency is caused by inadequate intake, malabsorption or inborn errors of vitamin B12 metabolism. Cobalamin deficiency in infants is usually caused by deficiency in the mother. There is often a diagnostic delay among infants because the most frequent symptoms are unspecific, e.g., developmental delay, apathy, hypotonia, anorexia and failure to thrive. Chi...

  15. Iron Deficiency in Autism and Asperger Syndrome.

    Science.gov (United States)

    Latif, A.; Heinz, P.; Cook, R.

    2002-01-01

    Retrospective analysis of the full blood count and, when available, serum ferritin measurements of 96 children (52 with autism and 44 with Asperger syndrome) found six autistic children had iron deficiency and 12 of the 23 autistic children with serum ferritin measures were iron deficient. Far fewer Asperger children were iron deficient. Results…

  16. Iron-induced nickel deficiency in pecan

    Science.gov (United States)

    Economic loss due to nickel (Ni) deficiency can occur in horticultural and agronomic crops. This study assesses impact of excessive iron (Fe) on expression of Ni deficiency in pecan [Carya illinoinensis (Wangenh.) K. Koch]. Field and greenhouse experiments found Ni deficiency to be inducible by ei...

  17. Vitamin D deficiency in Europe

    DEFF Research Database (Denmark)

    Cashman, Kevin D.; Dowling, Kirsten G; Škrabáková, Zuzana

    2016-01-01

    BACKGROUND: Vitamin D deficiency has been described as being pandemic, but serum 25-hydroxyvitamin D [25(OH)D] distribution data for the European Union are of very variable quality. The NIH-led international Vitamin D Standardization Program (VDSP) has developed protocols for standardizing existing...... 25(OH)D values from national health/nutrition surveys. OBJECTIVE: This study applied VDSP protocols to serum 25(OH)D data from representative childhood/teenage and adult/older adult European populations, representing a sizable geographical footprint, to better quantify the prevalence of vitamin D...... deficiency in Europe. DESIGN: The VDSP protocols were applied in 14 population studies [reanalysis of subsets of serum 25(OH)D in 11 studies and complete analysis of all samples from 3 studies that had not previously measured it] by using certified liquid chromatography-tandem mass spectrometry on biobanked...

  18. Iron deficiency anemia in pregnancy.

    Science.gov (United States)

    Di Renzo, Gian Carlo; Spano, Filippo; Giardina, Irene; Brillo, Eleonora; Clerici, Graziano; Roura, Luis Cabero

    2015-11-01

    Anemia is the most frequent derailment of physiology in the world throughout the life of a woman. It is a serious condition in countries that are industrialized and in countries with poor resources. The main purpose of this manuscript is to give the right concern of anemia in pregnancy. The most common causes of anemia are poor nutrition, iron deficiencies, micronutrients deficiencies including folic acid, vitamin A and vitamin B12, diseases like malaria, hookworm infestation and schistosomiasis, HIV infection and genetically inherited hemoglobinopathies such as thalassemia. Depending on the severity and duration of anemia and the stage of gestation, there could be different adverse effects including low birth weight and preterm delivery. Treatment of mild anemia prevents more severe forms of anemia, strictly associated with increased risk of fetal-maternal mortality and morbidity.

  19. DNA repair deficiency in neurodegeneration

    DEFF Research Database (Denmark)

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

    2011-01-01

    : homologous recombination and non-homologous end-joining. Ataxia telangiectasia and related disorders with defects in these pathways illustrate that such defects can lead to early childhood neurodegeneration. Aging is a risk factor for neurodegeneration and accumulation of oxidative mitochondrial DNA damage......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...

  20. Congenital deficiency of factor VII.

    Science.gov (United States)

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  1. Molecular Genetics of Lactase Deficiencies

    OpenAIRE

    Kuokkanen, Mikko

    2006-01-01

    Congenital lactase deficiency (CLD) (MIM 223000) is a rare autosomal recessive gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. The CLD locus was previously assigned by linkage and linkage disequilibrium analyses on 2q21 in 19 Finnish families. In this study, the molecular background of this disorder is reported. The CLD locus was refined in 32 CLD patients in 24 families by using microsatellite and single nucleot...

  2. Carnitine deficiency disorders in children.

    Science.gov (United States)

    Stanley, Charles A

    2004-11-01

    Mitochondrial oxidation of long-chain fatty acids provides an important source of energy for the heart as well as for skeletal muscle during prolonged aerobic work and for hepatic ketogenesis during long-term fasting. The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of beta-oxidation. The shuttle consists of three enzymes (carnitine palmitoyltransferase 1, carnitine acylcarnitine translocase, carnitine palmitoyl-transferase 2) and a small, soluble molecule, carnitine, to transport fatty acids as their long-chain fatty acylcarnitine esters. Carnitine is provided in the diet (animal protein) and also synthesized at low rates from trimethyl-lysine residues generated during protein catabolism. Carnitine turnover rates (300-500 micromol/day) are deficiency have been described. There is speculation that carnitine supplements might be beneficial in other settings (such as genetic acyl-CoA oxidation defects--"secondary carnitine deficiency", chronic ischemia, hyperalimentation, nutritional carnitine deficiency), but efficacy has not been documented. The formation of abnormal acylcarnitines has been helpful in expanded newborn screening programs using tandem mass-spectrometry of blood spot acylcarnitine profiles to detect genetic fatty acid oxidation defects in neonates. Carnitine-deficient diets (vegetarian) do not have much effect on carnitine pools in adults. A modest 50% reduction in carnitine levels is associated with hyperalimentation in newborn infants, but is of doubtful significance. The above considerations indicate that carnitine does not become rate-limiting unless extremely low; testing the benefits of nutritional supplements may require invasive endurance studies of fasting ketogenesis or muscle and cardiovascular work.

  3. Iron refractory iron deficiency anemia

    OpenAIRE

    De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole

    2013-01-01

    Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in ad...

  4. Mitochondrial cytochrome c oxidase deficiency.

    Science.gov (United States)

    Rak, Malgorzata; Bénit, Paule; Chrétien, Dominique; Bouchereau, Juliette; Schiff, Manuel; El-Khoury, Riyad; Tzagoloff, Alexander; Rustin, Pierre

    2016-03-01

    As with other mitochondrial respiratory chain components, marked clinical and genetic heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This constitutes a considerable diagnostic challenge and raises a number of puzzling questions. So far, pathological mutations have been reported in more than 30 genes, in both mitochondrial and nuclear DNA, affecting either structural subunits of the enzyme or proteins involved in its biogenesis. In this review, we discuss the possible causes of the discrepancy between the spectacular advances made in the identification of the molecular bases of cytochrome oxidase deficiency and the lack of any efficient treatment in diseases resulting from such deficiencies. This brings back many unsolved questions related to the frequent delay of clinical manifestation, variable course and severity, and tissue-involvement often associated with these diseases. In this context, we stress the importance of studying different models of these diseases, but also discuss the limitations encountered in most available disease models. In the future, with the possible exception of replacement therapy using genes, cells or organs, a better understanding of underlying mechanism(s) of these mitochondrial diseases is presumably required to develop efficient therapy.

  5. [Iodine deficiency in cardiovascular diseases].

    Science.gov (United States)

    Molnár, I; Magyari, M; Stief, L

    1998-08-30

    The thyroid hormone deficiency on cardiovascular function can be characterized with decreased myocardial contractility and increased peripheral vascular resistance as well as with the changes in lipid metabolism. 42 patients with cardiovascular disease (mean age 65 +/- 13 yr, 16 males) were investigated if iodine insufficiency can play a role as a risk factor for the cardiovascular diseases. The patients were divided in 5 subgroups on the ground of the presence of hypertension, congestive heart failure, cardiomyopathy, coronary disfunction and arrhythmia. Urine iodine concentration (5.29 +/- 4.52 micrograms/dl) was detected with Sandell-Kolthoff colorimetric reaction. The most decreased urine iodine concentration was detected in the subgroups with arrhythmia and congestive heart failure (4.7 +/- 4.94 micrograms/dl and 4.9 +/- 4.81 micrograms/dl, respectively). An elevated TSH level was found by 3 patients (5.3 +/- 1.4 mlU/l). An elevation in lipid metabolism (cholesterol, triglyceride) associated with all subgroups without arrhythmia. In conclusion, the occurrence of iodine deficiency in cardiovascular disease is frequent. Iodine supplementation might prevent the worsing effect of iodine deficiency on cardiovascular disease.

  6. 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 ...

  7. Deficiencies in the Management of Iron Deficiency Anemia During Childhood.

    Science.gov (United States)

    Powers, Jacquelyn M; Daniel, Catherine L; McCavit, Timothy L; Buchanan, George R

    2016-04-01

    Limited high-quality evidence supports the management of iron deficiency anemia (IDA). To assess our institutional performance in this area, we retrospectively reviewed IDA treatment practices in 195 consecutive children referred to our center from 2006 to mid-2010. The majority of children were ≤4 years old (64%) and had nutritional IDA (74%). In 11- to 18-year-old patients (31%), the primary etiology was menorrhagia (42%). Many were referred directly to the emergency department and/or prescribed iron doses outside the recommended range. Poor medication adherence and being lost-to-follow-up were common. Substantial improvements are required in the management of IDA.

  8. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency

    OpenAIRE

    Boer, L.; Kluijtmans, L.A.J.; Morava, E.

    2012-01-01

    Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1–5 μM, normal 20–55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value. At the age of 1 year, after interruption of carnitine supplementation for a 4-week period the carnitine profile was assessed and the free carnitine level had dropped to 10.4 μmol/l (normal: 20–55 μM) and total car...

  9. Skin wound healing in MMP2-deficient and MMP2 / plasminogen double-deficient mice

    DEFF Research Database (Denmark)

    Frøssing, Signe; Rønø, Birgitte; Hald, Andreas;

    2010-01-01

    -sensitive MMPs during wound healing. To address whether MMP2 is accountable for the galardin-induced healing deficiency in wildtype and Plg-deficient mice, incisional skin wounds were generated in MMP2 single-deficient mice and in MMP2/Plg double-deficient mice and followed until healed. Alternatively, tissue...... was isolated 7 days post wounding for histological and biochemical analyses. No difference was found in the time from wounding to overt gross restoration of the epidermal surface between MMP2-deficient and wildtype control littermate mice. MMP2/Plg double-deficient mice were viable and fertile, and displayed...... an unchallenged general phenotype resembling that of Plg-deficient mice, including development of rectal prolapses. MMP2/Plg double-deficient mice displayed a slight increase in the wound length throughout the healing period compared with Plg-deficient mice. However, the overall time to complete healing...

  10. Toward reassessing data-deficient species.

    Science.gov (United States)

    Bland, Lucie M; Bielby, Jon; Kearney, Stephen; Orme, C David L; Watson, James E M; Collen, Ben

    2017-06-01

    One in 6 species (13,465 species) on the International Union for Conservation of Nature (IUCN) Red List is classified as data deficient due to lack of information on their taxonomy, population status, or impact of threats. Despite the chance that many are at high risk of extinction, data-deficient species are typically excluded from global and local conservation priorities, as well as funding schemes. The number of data-deficient species will greatly increase as the IUCN Red List becomes more inclusive of poorly known and speciose groups. A strategic approach is urgently needed to enhance the conservation value of data-deficient assessments. To develop this, we reviewed 2879 data-deficient assessments in 6 animal groups and identified 8 main justifications for assigning data-deficient status (type series, few records, old records, uncertain provenance, uncertain population status or distribution, uncertain threats, taxonomic uncertainty, and new species). Assigning a consistent set of justification tags (i.e., consistent assignment to assessment justifications) to species classified as data deficient is a simple way to achieve more strategic assessments. Such tags would clarify the causes of data deficiency; facilitate the prediction of extinction risk; facilitate comparisons of data deficiency among taxonomic groups; and help prioritize species for reassessment. With renewed efforts, it could be straightforward to prevent thousands of data-deficient species slipping unnoticed toward extinction. © 2016 Society for Conservation Biology.

  11. Alcoholic Myelopathy and Nutritional Deficiency

    Science.gov (United States)

    Koike, Haruki; Nakamura, Tomohiko; Ikeda, Shohei; Takahashi, Mie; Kawagashira, Yuichi; Iijima, Masahiro; Katsuno, Masahisa; Sobue, Gen

    2017-01-01

    A patient with chronic alcoholism presented with myelopathy and low serum folate and cobalamin levels. A 42-year-old alcoholic man had gait disturbance for 4 months. A neurological examination revealed marked spasticity with increased deep tendon reflexes and extensor plantar responses of the lower limbs. His cobalamin level was decreased and his serum folate level was particularly low. His plasma ammonia level was not increased. Abstinence and folic acid and cobalamin supplementation stopped the progression of his neurological deficits. This case indicates that nutritional deficiency should be monitored closely in patients with chronic alcoholism who present with myelopathy. PMID:28049986

  12. Muscle phosphoglycerate mutase deficiency revisited

    DEFF Research Database (Denmark)

    Naini, Ali; Toscano, Antonio; Musumeci, Olimpia;

    2009-01-01

    storage disease type X and novel mutations in the gene encoding the muscle subunit of PGAM (PGAM2). DESIGN: Clinical, pathological, biochemical, and molecular analyses. SETTING: Tertiary care university hospitals and academic institutions. Patients A 37-year-old Danish man of Pakistani origin who had...... PGAM deficiency, and molecular studies revealed 2 novel homozygous mutations, a nonsense mutation and a single nucleotide deletion. Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients. CONCLUSIONS: We found that glycogen storage disease...

  13. 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.

  14. [Deficiency, disability, neurology and art].

    Science.gov (United States)

    Cano de la Cuerda, Roberto; Collado-Vazquez, Susana

    2010-07-16

    Disability is a complex phenomenon, and the ways it has been conceived, explained and treated have varied notably throughout history. As the years go by, human beings have evolved and, at the same time, so have medicine and art. And therein lies the extraordinary value, from the ontological point of view, of many works of art, which would never have been produced without the intervention of disease and the practice of the medical art. The aim of this work is to address the study of some deficiencies, disabilities and neurological pathologies that have been represented in paintings at different times in history. This article begins with the study of pictures that deal with dwarves and other misnamed freaks of nature that have been represented by painters from Velazquez to Titian or Rubens. The study looks at paintings of cripples, pictures containing the mentally disabled, with examples by Bruegel the Elder or Munch, as well as certain neurological disorders that have been portrayed in paintings, such as Escaping criticism by Pere Borrell or Sad inheritance by Sorolla. Likewise, we also reflect on the trite concept of disease and artistic creativity. The artistic representation of deficiency and disability has evolved in parallel to the feelings of men and women in each period of history and, at the same time, their social evolution. Nowadays, this concept continues to advance and some artists no longer represent the sick person, but instead the illness itself.

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

    Science.gov (United States)

    Camaschella, Clara

    2017-02-13

    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.

  16. Cryptosporidiosis in the acquired immune deficiency syndrome.

    Science.gov (United States)

    Cooper, D A; Wodak, A; Marriot, D J; Harkness, J L; Ralston, M; Hill, A; Penny, R

    1984-10-01

    Cryptosporidiosis was found in a patient with the acquired immune deficiency syndrome. The microbiological and morphological features of this newly recognized opportunistic infection are distinctive and diagnostic.

  17. Vitamin C deficiency in weanling guinea pigs

    DEFF Research Database (Denmark)

    Lykkesfeldt, Jens; Trueba, Gilberto Perez; Poulsen, Henrik E.

    2007-01-01

    Neonates are particularly susceptible to malnutrition due to their limited reserves of micronutrients and their rapid growth. In the present study, we examined the effect of vitamin C deficiency on markers of oxidative stress in plasma, liver and brain of weanling guinea pigs. Vitamin C deficiency...... increased, while protein oxidation decreased (P¼0003). The results show that the selective preservation of brain ascorbate and induction of DNA repair in vitamin C-deficient weanling guinea pigs is not sufficient to prevent oxidative damage. Vitamin C deficiency may therefore be particularly adverse during...

  18. Mannose Binding Lectin Deficiency and Clinical Features

    Directory of Open Access Journals (Sweden)

    Ertugrul Erken

    2013-08-01

    Full Text Available Innate immunity consists of macrophages, neutrophils, natural killer cells, mucosal immunuglobulins and the comlement system. Mannose binding lectin (MBL takes part in innate immunity through opsonisation and complement activation. MBL deficiency is associated with some infections and autoimmune disorders. However some studies indicate that MBL deficiency alone is not essential for immunity but it may intensify the clinic picture of an immune deficiency that already exists. This article refers to clincal studies related to MBL and brings up the clinical importance of MBL deficiency. [Archives Medical Review Journal 2013; 22(4.000: 565-574

  19. Generalised hyperpigmentation in vitamin B12 deficiency.

    Science.gov (United States)

    Santra, Gouranga; Paul, Rudrajit; Ghosh, Sumit Kr; Chakraborty, Debojyoti; Das, Shubhabrata; Pradhan, Sourav; Das, Abhishek

    2014-08-01

    In developing countries like India, nutritional deficiencies are prevalent and hyperpigmentation due to protein energy malnutrition, zinc deficiency and pellagra are common. Indian women, especially vegetarian are prone to vitamin B12 deficiency. Vitamin B12 deficiency can present as anaemia, neurological defect, gastrointestinal symptoms or dementia. Hyperpigmentation as the first presentation of Vitamin B12 deficiency is rare. Our patient, a 45 year-old Hindu vegetarian female presented to us with generalized hyperpigmentation. Examination revealed associated anaemia and peripheral neuropathy. Laboratory investigation confirmed vitamin B12 deficiency. Clinical features along with hyperpigmentation improved with vitamin B12 supplementation. We report this case to highlight this rare manifestation of vitamin B12 deficiency. A high index of clinical suspicion is warranted to diagnose the case. Since India is a country with a large number of potential vitamin B12 deficiency cases, the physicians need to be aware of all the varied manifestations of this vitamin deficiency. In case of hyperpigmentation, nutritional aspect must be ruled out as it is reversible. Early replacement therapy may also help to prevent morbidities like dementia and neuropathy.

  20. Genetics Home Reference: factor X deficiency

    Science.gov (United States)

    ... deficiency occurs in approximately 1 per million individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  1. Iron deficiency anemia in heart failure.

    Science.gov (United States)

    Arora, Natasha P; Ghali, Jalal K

    2013-07-01

    Anemia and iron deficiency are quite prevalent in patients with heart failure (HF) and may overlap. Both anemia and iron deficiency are associated with worse symptoms and adverse clinical outcomes. In the past few years, there has been an enormous interest in the subject of iron deficiency and its management in patients with HF. In this review, the etiology and relevance of iron deficiency, iron metabolism in the setting of HF, studies on iron supplementation in patients with HF and potential cardiovascular effects of subclinical iron overload are discussed.

  2. The impact of maternal iron deficiency and iron deficiency anemia on child’s health

    OpenAIRE

    Abu-Ouf, Noran M.; Mohammed M. Jan

    2015-01-01

    Iron deficiency anemia is extremely common, particularly in the developing world, reaching a state of global epidemic. Iron deficiency during pregnancy is one of the leading causes of anemia in infants and young children. Many women go through the entire pregnancy without attaining the minimum required intake of iron. This review aims to determine the impact of maternal iron deficiency and iron deficiency anemia on infants and young children. Extensive literature review revealed that iron def...

  3. The impact of maternal iron deficiency and iron deficiency anemia on child’s health

    OpenAIRE

    Abu-Ouf, Noran M.; Jan, Mohammed M.

    2015-01-01

    Iron deficiency anemia is extremely common, particularly in the developing world, reaching a state of global epidemic. Iron deficiency during pregnancy is one of the leading causes of anemia in infants and young children. Many women go through the entire pregnancy without attaining the minimum required intake of iron. This review aims to determine the impact of maternal iron deficiency and iron deficiency anemia on infants and young children. Extensive literature review revealed that iron def...

  4. Photodissociation of neutron deficient nuclei

    Energy Technology Data Exchange (ETDEWEB)

    Sonnabend, K.; Babilon, M.; Hasper, J.; Mueller, S.; Zarza, M.; Zilges, A. [TU Darmstadt, Institut fuer Kernphysik, Darmstadt (Germany)

    2006-03-15

    The knowledge of the cross sections for photodissociation reactions like e.g. ({gamma}, n) of neutron deficient nuclei is of crucial interest for network calculations predicting the abundances of the so-called p nuclei. However, only single cross sections have been measured up to now, i.e., one has to rely nearly fully on theoretical predictions. While the cross sections of stable isotopes are accessible by experiments using real photons, the bulk of the involved reactions starts from unstable nuclei. Coulomb dissociation (CD) experiments in inverse kinematics might be a key to expand the experimental database for p-process network calculations. The approach to test the accuracy of the CD method is explained. (orig.)

  5. [Iron deficiency in the elderly].

    Science.gov (United States)

    Helsen, Tuur; Joosten, Etienne

    2016-06-01

    Anemia is a common diagnosis in the geriatric population, especially in institutionalized and hospitalized elderly. Most common etiologies for anemia in elderly people admitted to a geriatric ward are iron-deficiency anemia and anemia associated with chronic disease. Determination of serum ferritin is the most used assay in the differential diagnosis, despite low sensitivity and moderate specificity. New insights into iron homeostasis lead to new diagnostic assays such as serum hepcidin, serum transferrin receptor and reticulocyte hemoglobin equivalent.Importance of proper diagnosis and treatment for this population is large since there is a correlation between anemia and morbidity - mortality. Anemia is usually defined as hemoglobin less than 12 g/dl for women and less than 13 g/dl for men. There is no consensus for which hemoglobinvalue an investigation into underlying pathology is obligatory. This needs to be evaluated depending on functional condition of the patient.

  6. [delta-Aminolevulinate dehydratase deficiency].

    Science.gov (United States)

    Fujita, H; Ishida, N; Akagi, R

    1995-06-01

    delta-Aminolevulinate dehydratase (ALAD: E. C. 4.2.1.24), the second enzyme in the heme biosynthetic pathway, condenses two moles of delta-aminolevulinic acid to form porphobilinogen. ALAD deficiency is well known to develop signs and symptoms of typical hepatic porphyria, and classified into three categories as follows: (i) ALAD porphyria, a genetic defect of the enzyme, (ii) tyrosinemia type I, a genetic defect of fumarylacetoacetase in the tyrosine catabolic pathway, producing succinylacetone (a potent inhibitor of ALAD), and (iii) ALAD inhibition by environmental hazards, such as lead, trichloroethylene, and styrene. In the present article, we will describe molecular and biochemical mechanisms to cause the enzyme defect to discuss the significance of ALAD defect on human health.

  7. Carbohydrate deficient transferrin and alcoholism.

    Science.gov (United States)

    Solomons, Hilary Denis

    2012-06-01

    Alcohol abuse is an important public health problem, with major implications in patients with a pre-existing liver pathology of viral origin. Hepatitis C, for example, is one of the diseases in which alcohol consumption can lead to the transition from a fairly benign outline to a potentially life-threatening liver disease. Alcohol abuse is usually identified on the basis of clinical judgment, alcoholism related questionnaires, laboratory tests and, more recently, biomarkers. Also on this list of tests, carbohydrate deficient transferrin (CDT) is widely available and useful for determining recent alcohol consumption, particularly when corroborated with elevation of other liver-associated enzymes. Clinicians should be aware of the indications and limitations of this test in order to better evaluate alcohol consumption in their patients.

  8. Genetic causes for iron deficiency

    OpenAIRE

    Saad,Sara Teresinha O.

    2010-01-01

    As causas genéticas de deficiência de ferro, real ou funcional, ocorrem por defeitos em muitas proteínas envolvidas na absorção e metabolismo de ferro. Neste capítulo descreveremos sucintamente causas genéticas de carência de ferro para a síntese de hemoglobina, que cursa então com anemia microcítica e hipocrômica. Ressalto que estas são alterações raras, com poucas descrições na literatura. Em alguns casos, o ferro funcional não está disponível para os eritroblastos sintetizarem hemoglobina,...

  9. B12 Deficiency with Children

    Directory of Open Access Journals (Sweden)

    Selahattin Katar

    2007-01-01

    Full Text Available Aim of the study: to rewieved the clinical and laboratory properties of seven cases with megaloblastic anemia. Clinical and laboratory findings of seven cases with megaloblastic anemia are described. İt is determined that all of the patients received little or no animal products by nutritional history. Clinically apatite, malasia, headeche, otism, and parestheia in the lower extremities and foods were present in patients. On physical examination; four patients had glossit, four had hyporeflexia, one had ataxia. Folat level was normal and B12 vitamin level was low in all patients. The MCV (mean corpuscular volume was normal in three patients. Hypersegmentation of neutrophil was observed in all patients, leukopenia in two, and trombocytopenia was observed in one patient.Conclusion: it is suggested B12 vitamin deficiency in the patients that received little or no animal products by nutritional history. However, hypersegmentation of neutrophil in peripheral blood sample is an important finding for diagnosis of megaloblastic anemia.

  10. Vitamin A deficiency in quail

    Science.gov (United States)

    Nestler, R.B.; Bailey, W.W.

    1943-01-01

    Two experiments were conducted to determine the symptoms of avitaminosis A in growing and adolescent bobwhites. Chicks from parents that have received a diet rich in vitamin A may have enough stored to carry them a week or ten days on a growing diet deficient in vitamin A before symptoms of deficiency occur. The first sign is ruffled feathering, with the wing primaries standing out from the body and drooping. Ophthalmia in one or both eyes occurs and may close the eyes completely, but this condition is not severe in all cases and may not even be noticeable. Birds show poor growth, loss of appetite, and weakness before death. Under the conditions of the experiments discussed herein, death may occur in the fourth or fifth week, and mortality is high......Postmortem examination may reveal visceral gout with thick deposits of urates on the kidneys, in the ureters, on the heart, in the proventriculus, and occasionally covering all the viscera. There may also be hemorrhage of the heart and other organs....Adolescent quail reared on a diet rich in vitamin A may be able to live through the winter on a maintenance diet low in this vitamin without showing symptoms of avitaminosis, but some individuals whose storage of vitamin A in the liver is not as great as that of others may succumb to visceral gout.....A growing mash for quail which contains sufficient vitamin A when fresh may, after a period of storage, lose enough of the vitamin to cause the characteristic symptoms of avitaminosis A to appear.

  11. Vitamin D deficiency in adolescents.

    Science.gov (United States)

    Soliman, Ashraf T; De Sanctis, Vincenzo; Elalaily, Rania; Bedair, Said; Kassem, Islam

    2014-11-01

    The prevalence of severe vitamin D deficiency (VDD) in adolescents is variable but considerably high in many countries, especially in Middle-east and Southeast Asia. Different factors attribute to this deficiency including lack of sunlight exposure due to cultural dress codes and veiling or due to pigmented skin, and less time spent outdoors, because of hot weather, and lower vitamin D intake. A potent adaptation process significantly modifies the clinical presentation and therefore clinical presentations may be subtle and go unnoticed, thus making true prevalence studies difficult. Adolescents with severe VDD may present with vague manifestations including pain in weight-bearing joints, back, thighs and/or calves, difficulty in walking and/or climbing stairs, or running and muscle cramps. Adaptation includes increased parathormone (PTH) and deceased insulin-like growth factor-I (IGF-I) secretion. PTH enhances the tubular reabsorption of Ca and stimulates the kidneys to produce 1, 25-(OH) 2D3 that increases intestinal calcium absorption and dissolves the mineralized collagen matrix in bone, causing osteopenia and osteoporosis to provide enough Ca to prevent hypocalcaemia. Decreased insulin like growth factor-I (IGF-I) delays bone growth to economize calcium consumption. Radiological changes are not uncommon and include osteoporosis/osteopenia affecting long bones as well as vertebrae and ribs, bone cysts, decalcification of the metaphysis of the long bones and pseudo fractures. In severe cases pathological fractures and deformities may occur. Vitamin D treatment of adolescents with VDD differs considerably in different studies and proved to be effective in treating all clinical, biochemical, and radiological manifestations. Different treatment regiments for VDD have been discussed and presented in this mini-review for practical use. Adequate vitamin D replacement after treating VDD, improving calcium intake (milk and dairy products), encouraging adequate exposure

  12. How common is vitamin B12 deficiency?

    Science.gov (United States)

    In considering the vitamin B-12 fortification of flour, it is important to know who is at risk of vitamin B-12 deficiency and whether those individuals would benefit from flour fortification.This article reviews current knowledge of the prevalence and causes of vitamin B-12 deficiency and considers ...

  13. Growth Hormone Deficiency, Brain Development, and Intelligence

    Science.gov (United States)

    Meyer-Bahlburg, Heino F. L.; And Others

    1978-01-01

    Available from: American Medical Association, 535 N. Dearborn Street, Chicago, Illinois 60610. In order to determine what effect, if any, growth hormone (GH) has on human brain development, 29 patients (mean age 11.7 years) with GH deficiency were selected according to the following criteria: no evidence of reversible GH deficiency, onset of…

  14. Duodenal Amyloidosis Masquerading as Iron Deficiency Anemia

    Science.gov (United States)

    Hurairah, Abu

    2016-01-01

    The present study is a unique illustration of duodenal amyloidosis initially manifesting with iron deficiency anemia. It underscores the importance of clinical suspicion of amyloidosis while performing upper gastrointestinal endoscopy with a biopsy to establish the definite diagnosis in patients with unexplained iron deficiency anemia. PMID:27625911

  15. Dietary recommendations in patients with deficiency anaemia

    Directory of Open Access Journals (Sweden)

    A. Santoyo-Sánchez

    2015-07-01

    Nutritionists should understand deficiency anaemia, and physicians, particularly general practitioners, should be aware of dietary requirements. In this article, therefore, both health care professionals have come together to briefly explain, with examples, the type of diet that should be recommended to patients with deficiency anaemia.

  16. An update on serine deficiency disorders

    NARCIS (Netherlands)

    van der Crabben, S. N.; Verhoeven-Duif, N. M.; Brilstra, E. H.; Van Maldergem, L.; Coskun, T.; Rubio-Gozalbo, E.; Berger, R.; de Koning, T. J.

    Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive

  17. Psychomotor development in children with iron deficiency and iron-deficiency anemia.

    Science.gov (United States)

    Pala, Emin; Erguven, Muferet; Guven, Sirin; Erdogan, Makbule; Balta, Tulin

    2010-09-01

    Iron deficiency and iron-deficiency anemia are the most common nutritional deficiencies in children, especially in developing countries. Iron-deficiency anemia in infancy is associated with impaired neurodevelopment. Studies have shown an association between iron deficiency without anemia and adverse effects on psychomotor development. To determine the effects of iron deficiency and iron-deficiency anemia on psychomotor development in childhood. . We evaluated psychomotor development in healthy children with iron deficiency and iron-deficiency anemia with the use of the Denver II Developmental Screening Test (DDST-II). If the child score was more than 90th percentile compared to children in the same age group, the test was scored as "delay" it was scored as a "caution" if the child score was between the 75th and 90th percentiles. The test result was interpreted as "normal," if there was no delay and only one "caution" for any item. If the child had one or more "delays" or more than two "cautions," the result was classified as "abnormal." DDST-II scores were abnormal in 67.3% of subjects with iron-deficiency anemia, 21.6% of those with iron deficiency, and 15.0% of control subjects. The difference from the control group in the percentage of abnormal scores was significant for subjects with iron-deficiency anemia (p iron deficiency (p = 0.203); p > .05. (p-value, post-hoc comparison of 2 groups.) Iron-deficiency anemia impaired psychomotor development during childhood. However, the evidence on the adverse effects of iron deficiency remains controversial. The Denver II Developmental Screening Test is a valuable test to detect early developmental delays, especially in infants with risk factors.

  18. Prevalence of Color Vision Deficiency in Qazvin

    Directory of Open Access Journals (Sweden)

    Mohammad khalaj

    2014-01-01

    Full Text Available Background: Color vision deficiency (CVD is an X chromosome-linked recessive autosomal dominant. Determine the prevalence of color blindness in Qazvin population. Materials and Methods: In a cross sectional study color vision deficiency examined in 1853 individuals with age 10-25 years old who participated in private clinics and eye clinic of Bu-Ali hospital in Qazvin in 2010. The screening of color vision deficiency was performed using Ishihara test. Data were analyzed by SPSS-16 with χP2P test with p<0.05. Results: Mean age of participant was 17.86±4.48 years. 59.5% of them were female. 3.49% of the total population had color vision deficiency that 0.93% and 2.56% were female and male respectively. Conclusion: color vision deficiency must be noticed by decision makers in health field for screen planning.

  19. Molecular diagnosis of coenzyme Q10 deficiency.

    Science.gov (United States)

    Yubero, Delia; Montero, Raquel; Armstrong, Judith; Espinós, Carmen; Palau, Francesc; Santos-Ocaña, Carlos; Salviati, Leonardo; Navas, Placido; Artuch, Rafael

    2015-01-01

    Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ deficiencies have been reported. The biochemical determination of CoQ is a good tool for the rapid identification of CoQ deficiencies but does not allow the selection of candidate genes for molecular diagnosis. Moreover, the metabolic pathway for CoQ synthesis is an intricate and not well-understood process, where a large number of genes are implicated. Thus, only next-generation sequencing techniques (either genetic panels of whole-exome and -genome sequencing) are at present appropriate for a rapid and realistic molecular diagnosis of these syndromes. The potential treatability of CoQ deficiency strongly supports the necessity of a rapid molecular characterization of patients, since primary CoQ deficiencies may respond well to CoQ treatment.

  20. [Vitamin B12 deficiency in the elderly].

    Science.gov (United States)

    Leischker, A H; Kolb, G F

    2015-01-01

    The prevalence of vitamin B12 deficiency increases with age. Patients with dementia and spouses of patients with dementia are at special risk for the development of vitamin B12 deficiency. In a normal diet this vitamin is present only in animal source foods; therefore, vegans frequently develop vitamin B12 deficiency if not using supplements or foods fortified with cobalamin. Apart from dementia, most of these manifestations are completely reversible under correct therapy; therefore it is crucial to identify and to treat even atypical presentations of vitamin B12 deficiency as early as possible. This article deals with the physiology and pathophysiology of vitamin B12 metabolism. A practice-oriented algorithm which also considers health economic aspects for a rational laboratory diagnosis of vitamin B12 deficiency is presented. In cases with severe neurological symptoms, therapy should be parenteral, especially initially. For parenteral treatment, hydroxocobalamin is the drug of choice.

  1. [Trial of indirect screening of tetrahydrobiopterin deficiency].

    Science.gov (United States)

    Ferraris, S; Guardamagna, O; Bracco, G; Ponzone, A

    1987-01-01

    The possibility of an early diagnosis of tetrahydrobiopterin deficiency among hyperphenylalaninemic infants, when specific screening tests cannot be performed, was evaluated. Three tetrahydrobiopterin deficient patients, two with dihydropteridine reductase deficiency and one with dihydrobiopterin synthetase deficiency were examined together with their parents and compared with twelve phenylketonuric patients, their parents and sixteen normal subjects. The parameters considered in the hyperphenylalaninemic patients (degree of neonatal hyperphenylalaninemia, phenylalanine lowering speed in response to a restricted diet, dietary tolerance to phenylalanine, oral phenylalanine load) were found to be insufficiently or lately indicative. By contrast, heterozygosity tests (molar ratio (Phe)2/Tyr and sigma discriminant function) performed on the parents allowed a suspicion of tetrahydrobiopterin deficiency, the definite diagnosis being of course based upon specific investigations.

  2. Vitamin D deficiency in adolescents

    Directory of Open Access Journals (Sweden)

    Ashraf T Soliman

    2014-01-01

    Full Text Available The prevalence of severe vitamin D deficiency (VDD in adolescents is variable but considerably high in many countries, especially in Middle-east and Southeast Asia. Different factors attribute to this deficiency including lack of sunlight exposure due to cultural dress codes and veiling or due to pigmented skin, and less time spent outdoors, because of hot weather, and lower vitamin D intake. A potent adaptation process significantly modifies the clinical presentation and therefore clinical presentations may be subtle and go unnoticed, thus making true prevalence studies difficult. Adolescents with severe VDD may present with vague manifestations including pain in weight-bearing joints, back, thighs and/or calves, difficulty in walking and/or climbing stairs, or running and muscle cramps. Adaptation includes increased parathormone (PTH and deceased insulin-like growth factor-I (IGF-I secretion. PTH enhances the tubular reabsorption of Ca and stimulates the kidneys to produce 1, 25-(OH 2D3 that increases intestinal calcium absorption and dissolves the mineralized collagen matrix in bone, causing osteopenia and osteoporosis to provide enough Ca to prevent hypocalcaemia. Decreased insulin like growth factor-I (IGF-I delays bone growth to economize calcium consumption. Radiological changes are not uncommon and include osteoporosis/osteopenia affecting long bones as well as vertebrae and ribs, bone cysts, decalcification of the metaphysis of the long bones and pseudo fractures. In severe cases pathological fractures and deformities may occur. Vitamin D treatment of adolescents with VDD differs considerably in different studies and proved to be effective in treating all clinical, biochemical, and radiological manifestations. Different treatment regiments for VDD have been discussed and presented in this mini-review for practical use. Adequate vitamin D replacement after treating VDD, improving calcium intake (milk and dairy products, encouraging

  3. Infections Revealing Complement Deficiency in Adults

    Science.gov (United States)

    Audemard-Verger, A.; Descloux, E.; Ponard, D.; Deroux, A.; Fantin, B.; Fieschi, C.; John, M.; Bouldouyre, A.; Karkowsi, L.; Moulis, G.; Auvinet, H.; Valla, F.; Lechiche, C.; Davido, B.; Martinot, M.; Biron, C.; Lucht, F.; Asseray, N.; Froissart, A.; Buzelé, R.; Perlat, A.; Boutboul, D.; Fremeaux-Bacchi, V.; Isnard, S.; Bienvenu, B.

    2016-01-01

    Abstract Complement system is a part of innate immunity, its main function is to protect human from bacterial infection. As genetic disorders, complement deficiencies are often diagnosed in pediatric population. However, complement deficiencies can also be revealed in adults but have been poorly investigated. Herein, we describe a case series of infections revealing complement deficiency in adults to study clinical spectrum and management of complement deficiencies. A nationwide retrospective study was conducted in French university and general hospitals in departments of internal medicine, infectious diseases enrolling patients older than 15 years old who had presented at least one infection leading to a complement deficiency diagnosis. Forty-one patients included between 2002 and 2015 in 19 different departments were enrolled in this study. The male-to-female ratio was 1.3 and the mean age at diagnosis was 28 ± 14 (15–67) years. The main clinical feature was Neisseria meningitidis meningitis 75% (n = 31/41) often involving rare serotype: Y (n = 9) and W 135 (n = 7). The main complement deficiency observed was the common final pathway deficiency 83% (n = 34/41). Half of the cohort displayed severe sepsis or septic shock at diagnosis (n = 22/41) but no patient died. No patient had family history of complement deficiency. The mean follow-up was 1.15 ± 1.95 (0.1–10) years. Half of the patients had already suffered from at least one infection before diagnosis of complement deficiency: meningitis (n = 13), pneumonia (n = 4), fulminans purpura (n = 1), or recurrent otitis (n = 1). Near one-third (n = 10/39) had received prophylactic antibiotics (cotrimoxazole or penicillin) after diagnosis of complement deficiency. The vaccination coverage rate, at the end of the follow-up, for N meningitidis, Streptococcus pneumonia, and Haemophilius influenzae were, respectively, 90% (n = 33/37), 47% (n = 17/36), and 35

  4. Genetics Home Reference: ataxia with vitamin E deficiency

    Science.gov (United States)

    ... Home Health Conditions ataxia with vitamin E deficiency ataxia with vitamin E deficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Ataxia with vitamin E deficiency is a disorder that ...

  5. Genetics Home Reference: iron-refractory iron deficiency anemia

    Science.gov (United States)

    ... refractory iron deficiency anemia iron-refractory iron deficiency anemia Enable Javascript to view the expand/collapse boxes. ... All Close All Description Iron-refractory iron deficiency anemia is one of many types of anemia , which ...

  6. Genetics Home Reference: alpha-methylacyl-CoA racemase deficiency

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions AMACR deficiency alpha-methylacyl-CoA racemase deficiency Enable Javascript to view ... boxes. Download PDF Open All Close All Description Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder ...

  7. Genetic, molecular and functional analyses of complement factor I deficiency

    DEFF Research Database (Denmark)

    Nilsson, S.C.; Trouw, L.A.; Renault, N.;

    2009-01-01

    Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three...

  8. Seventeen Alpha-hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Siew-Lee Wong

    2006-01-01

    Full Text Available Seventeen a-hydroxylase deficiency (17OHD is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess, hypokalemic hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. The disease is inherited in an autosomal recessive pattern, and is caused by mutations in the gene encoding cytochrome P450c17 (CYP17, which is the single polypeptide that mediates both 17α-hydroxylase and 17,20-lyase activities. We report the case of a 15-year-old patient with 17OHD who had a female phenotype but male karyotype (46,XY. The diagnosis was made based on classical clinical features, biochemical data and molecular genetic study. Two mutations were identified by polymerase chain reaction amplification and sequencing, including a S106P point mutation in exon 2 and a 9-bp (GACTCTTTC deletion from nucleotide position 1519 in exon 8 of CYP17. The first of these mutations was found in the father and the second in the mother, and both have been previously reported in Asia. The patient's hypertension and hypokalemia resolved after glucocorticoid replacement and treatment with potassium-sparing diuretics. Sex hormone replacement was prescribed for induction of sexual development and reduction of the final height. Prophylactic gonadectomy was scheduled. In summary, 17OHD should be suspected in patients with hypokalemic hypertension and lack of secondary sexual development so that appropriate therapy can be implemented.

  9. Deficient Approaches to Human Neuroimaging

    Directory of Open Access Journals (Sweden)

    Johannes eStelzer

    2014-07-01

    Full Text Available Functional magnetic resonance imaging (fMRI is the workhorse of imaging-based human cognitive neuroscience. The use of fMRI is ever-increasing; within the last 4 years more fMRI studies have been published than in the previous 17 years. This large body of research has mainly focused on the functional localization of condition- or stimulus-dependent changes in the blood-oxygenation-level dependent (BOLD signal.In recent years, however, many aspects of the commonly practiced analysis frameworks and methodologies have been critically reassessed. Here we summarize these critiques, providing an overview of the major conceptual and practical deficiencies in widely used brain-mapping approaches, and exemplify some of these issues by the use of imaging data and simulations. In particular, we discuss the inherent pitfalls and shortcomings of methodologies for statistical parametric mapping. Our critique emphasizes recent reports of excessively high numbers of both false positive and false negative findings in fMRI brain mapping. We outline our view regarding the broader scientific implications of these methodological considerations and briefly discuss possible solutions.

  10. Testosterone deficiency and cardiovascular mortality

    Institute of Scientific and Technical Information of China (English)

    Abraham Morgentaler

    2015-01-01

    New concerns have been raised regarding cardiovascular (CV) risks with testosterone (T) therapy (TTh). These concerns are based primarily on two widely reported retrospective studies. However, methodological flaws and data errors invalidate both studies as credible evidence of risk. One showed reduced adverse events by half in T‑treated men but reversed this result using an unproven statistical approach. The authors subsequently acknowledged serious data errors including nearly 10% contamination of the dataset by women. The second study mistakenly used the rate of T prescriptions written by healthcare providers to men with recent myocardial infarction (MI) as a proxy for the naturally occurring rate of MI. Numerous studies suggest T is beneficial, including decreased mortality in association with TTh, reduced MI rate with TTh in men with the greatest MI risk prognosis, and reduced CV and overall mortality with higher serum levels of endogenous T. Randomized controlled trials have demonstrated benefits of TTh in men with coronary artery disease and congestive heart failure. Improvement in CV risk factors such as fat mass and glycemic control have been repeatedly demonstrated in T‑deficient men treated with T. The current evidence does not support the belief that TTh is associated with increased CV risk or CV mortality. On the contrary, a wealth of evidence accumulated over several decades suggests that low serum T levels are associated with increased risk and that higher endogenous T, as well as TTh itself, appear to be beneficial for CV mortality and risk.

  11. Antibiotic prophylaxis in primary immune deficiency disorders.

    Science.gov (United States)

    Kuruvilla, Merin; de la Morena, Maria Teresa

    2013-01-01

    Long-term prophylactic antibiotics are being widely implemented as primary or adjunctive therapy in primary immune deficiencies. This practice has transformed clinical outcomes in the setting of chronic granulomatous disease, complement deficiencies, Mendelian susceptibility to mycobacterial disease, Wiskott-Aldrich syndrome, hyper-IgE syndrome, Toll signaling defects, and prevented Pneumocystis in patients with T-cell deficiencies. Yet, controlled trials are few in the context of primary antibody deficiency syndromes, and most of this practice has been extrapolated from data in patients who are immune competent and with recurrent acute otitis media, chronic rhinosinusitis, cystic fibrosis, and bronchiectasis. The paucity of guidelines on the subject is reflected in recent surveys among practicing immunologists that highlight differences of habit regarding this treatment. Such discrepancies reinforce the lack of standard protocols on the subject. This review will provide evidence for the use of antibiotic prophylaxis in various primary immune deficiency populations, especially highlighting the role antibiotic prophylaxis in primary antibody deficiency syndromes. We also discussed the relationship of long-term antibiotic use and the prevalence of resistant pathogens. Overall, examination of available data on the use of prophylactic antibiotics in antibody deficiency syndromes merit future investigation in well-designed multicenter prospective trials because this population has few other management options.

  12. Reticulocyte maturity indices in iron deficiency anemia

    Directory of Open Access Journals (Sweden)

    Muriel Wollmann

    2014-01-01

    Full Text Available Objective: The aim of this study was to analyze the reticulocyte maturity indices (low, medium, and high fluorescence ratios in iron deficient 1- to 6-year-old children, and identify the prevalence of iron deficiency anemia in this population. Methods: The present study included 39 subjects, divided into two groups: control subjects (n = 33, and subjects with iron deficiency anemia (n = 6. The results were analyzed by Student's t-test for comparison of means. Differences were considered significant when two-tailed p-value < 0.05. Results: Subjects with iron deficiency anemia presented increases in the proportion of mean (10.3 ± 4.7% vs. 6.0 ± 3.4%; p-value = 0.003, and high fluorescence reticulocytes (2.3 ± 0.87% vs. 0.9 ± 0.9%; p-value = 0.03 compared to the control group. The prevalence of anemia in this population was 15% (n = 6. Conclusion: The indices related to immaturity of reticulocytes are higher in the presence of iron deficiency, thus demonstrating a deficiency in the raw material to form hemoglobin and are, therefore, possible early markers of iron deficiency and anemia. We emphasize the need to standardize these indices for use in clinical practice and lab test results.

  13. Perinatal iron deficiency and neurocognitive development

    Directory of Open Access Journals (Sweden)

    Emily Clare Radlowski

    2013-09-01

    Full Text Available Iron deficiency is the most common form of nutrient deficiency worldwide. It is highly prevalent due to the limited availability of high quality food in developing countries, and poor dietary habits in industrialized countries. According to the World Health Organization, it affects nearly 2 billion people and up to 50% of women who are pregnant. Maternal anemia during pregnancy is especially burdensome to healthy neurodevelopment in the fetus because iron is needed for proper neurogenesis, development, and myelination. Maternal anemia also increases the risk of low birth weight, either due to premature birth or fetal growth restriction, which is associated with delayed neurocognitive development and even psychiatric illness. As rapid neurodevelopment continues after birth infants that received sufficient iron in utero, but that receive a low iron diet after 6 months of age, also show deficits in neurocognitive development, including impairments in learning and memory. Unfortunately, the neurocognitive complications of iron deficiency during critical pre- and postnatal periods of brain development are difficult to remedy, persisting into adulthood. Thus, preventing iron deficiency in the pre- and postnatal periods is critical as is devising new means to recapture cognitive function in individuals who experienced early iron deficiency. This review will discuss the prevalence of pre- and postnatal iron deficiency, the mechanism, and effects of iron deficiency on brain and cognitive development.

  14. Treatment of zinc deficiency without zinc fortification

    Institute of Scientific and Technical Information of China (English)

    Donald OBERLEAS; Barbara F. HARLAND

    2008-01-01

    Zinc (Zn) deficiency in animals became of interest until the 1950s. In this paper, progresses in researches on physi-ology of Zn deficiency in animals, phytate effect on bioavailability of Zn, and role of phytase in healing Zn deficiency of animals were reviewed. Several studies demonstrated that Zn is recycled via the pancreas; the problem of Zn deficiency was controlled by Zn homeostasis. The endogenous secretion of Zn is considered as an important factor influencing Zn deficiency, and the critical molar ratio is 10. Phytate (inositol hexaphosphate) constituted up to 90% of the organically bound phosphorus in seeds. Great improvement has been made in recent years on isolating and measuring phytate, and its structure is clear. Phytate is considered to reduce Zn bioavailability in animal. Phytase is the enzyme that hydrolyzes phytate and is present in yeast, rye bran, wheat bran, barley, triticale, and many bacteria and fungi. Zinc nutrition and bioavailability can be enhanced by addition of phytase to animal feeds. Therefore, using phytase as supplements, the most prevalent Zn deficiency in animals may be effectively corrected without the mining and smelting of several tons of zinc daily needed to correct this deficiency by fortification worldwide.

  15. Wound healing in Mac-1 deficient mice.

    Science.gov (United States)

    Chen, Lin; Nagaraja, Sridevi; Zhou, Jian; Zhao, Yan; Fine, David; Mitrophanov, Alexander Y; Reifman, Jaques; DiPietro, Luisa A

    2017-05-01

    Mac-1 (CD11b/CD18) is a macrophage receptor that plays several critical roles in macrophage recruitment and activation. Because macrophages are essential for proper wound healing, the impact of Mac-1 deficiency on wound healing is of significant interest. Prior studies have shown that Mac-1(-/-) mice exhibit deficits in healing, including delayed wound closure in scalp and ear wounds. This study examined whether Mac-1 deficiency influences wound healing in small excisional and incisional skin wounds. Three millimeter diameter full thickness excisional wounds and incisional wounds were prepared on the dorsal skin of Mac-1 deficient (Mac-1(-/-) ) and wild type (WT) mice, and wound healing outcomes were examined. Mac-1 deficient mice exhibited a normal rate of wound closure, generally normal levels of total collagen, and nearly normal synthesis and distribution of collagens I and III. In incisional wounds, wound breaking strength was similar for Mac-1(-/-) and WT mice. Wounds of Mac-1 deficient mice displayed normal total macrophage content, although macrophage phenotype markers were skewed as compared to WT. Interestingly, amounts of TGF-β1 and its downstream signaling molecules, SMAD2 and SMAD3, were significantly decreased in the wounds of Mac-1 deficient mice compared to WT. The results suggest that Mac-1 deficiency has little impact on the healing of small excisional and incisional wounds. Moreover, the findings demonstrate that the effect of single genetic deficiencies on wound healing may markedly differ among wound models. These conclusions have implications for the interpretation of the many prior studies that utilize a single model system to examine wound healing outcomes in genetically deficient mice. © 2017 by the Wound Healing Society.

  16. Hypopituitarism: growth hormone and corticotropin deficiency.

    Science.gov (United States)

    Capatina, Cristina; Wass, John A H

    2015-03-01

    This article presents an overview of adult growth hormone deficiency (AGHD) and corticotropin deficiency (central adrenal failure, CAI). Both conditions can result from various ailments affecting the hypothalamus or pituitary gland (most frequently a tumor in the area or its treatment). Clinical manifestations are subtle in AGHD but potentially life-threatening in CAI. The diagnosis needs dynamic testing in most cases. Treatment of AGHD is recommended in patients with documented severe deficiency, and treatment of CAI is mandatory in all cases. Despite significant progress in replacement hormonal therapy, more physiologic treatments and more reliable indicators of treatment adequacy are still needed.

  17. 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 ......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...

  18. Molecular genetics of human lactase deficiencies.

    Science.gov (United States)

    Järvelä, Irma; Torniainen, Suvi; Kolho, Kaija-Leena

    2009-01-01

    Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population. Both lactase deficiencies are autosomal recessive traits and characterized by diminished expression of lactase activity in the intestine. Genetic variants underlying both forms have been identified. Here we review the current understanding of the molecular defects of human lactase deficiencies and their phenotype-genotype correlation, the implications on clinical practice, and the understanding of their function and role in human evolution.

  19. Nutrition and hair: deficiencies and supplements.

    Science.gov (United States)

    Finner, Andreas M

    2013-01-01

    Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examination of hair loss activity, and hair quality and confirmed through targeted laboratory tests. Examples of genetic hair disorders caused by reduced nutritional components are zinc deficiency in acrodermatitis enteropathica and copper deficiency in Menkes kinky hair syndrome.

  20. Severe Vitamin D Deficiency Causing Kyphoscoliosis.

    Science.gov (United States)

    Singhai, Abhishek; Banzal, Subodh

    2013-01-01

    Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been misdiagnosed as musculoskeletal disorders, including fibromyalgia, polymyalgia rheumatica and ankylosing spondylitis. Here, we report two cases presented with kyphoscoliosis, diagnosed to have severe vitamin D deficiency.

  1. 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 ......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...

  2. Responses of Legumes to Phosphorus Deficiency

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Phosphorus deficiency is a universal problem in most world soils. Furthermore, of all nutrients, shortage of phosphorus has the biggest impact on legumes, therefore, lots of studies were carried out for identifying responses of legumes to shortage of phosphorus. They concluded that to maintain improved growth under phosphorus deficiency conditions plants develop two major mechanisms: (i) Phosphorus acquisition (root morphology, root exudation and phosphorus uptake mechanisms), (ii) Phosphorus utilization (internal mechanisms associated with better use of absorbed phosphorus at cellular level). The aim of this brief review is to elucidate root morphological changes and rhizophere acidification to phosphorus deficiency.

  3. 21-Hydroxylase deficiency in Brazil

    Directory of Open Access Journals (Sweden)

    T.A.S.S. Bachega

    2000-10-01

    Full Text Available We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4% than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%. The most frequent point mutations were I2 splice (41.8% in salt wasting - SW, I172N (32.6% in simple virilizing - SV and V281L (40.2% in the late onset form - LO. The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity (A@ 2%, C>20%. In group A, 62% of cases presented the SW form; in group B, 96% the SV form, and in group C, 88% the LO form. We diagnosed 80% of the affected alleles after screening for large rearrangements and 15 point mutations. To diagnose these remaining alleles we sequenced the CYP21 gene of one patient with the SV form and identified a heterozygous G->A transition in codon 424. This mutation leads to a substitution of glycine by serine in a conserved region and was also found in a compound heterozygous state in 4 other patients. The mutation G424S presented a linkage disequilibrium with CYP21P and C4A gene deletions and HLA DR17, suggesting a probable founder effect. Search for the G424S mutation in other populations will reveal if it is restricted to the Brazilian patients or if it has a wider ethnic distribution.

  4. PREVALENCE AND SEVERITY OF IODINE DEFICIENCY ...

    African Journals Online (AJOL)

    GB

    2012-11-03

    Nov 3, 2012 ... that severe iodine deficiency in Ethiopian women leads to 50,000 ... there will be hypothyroidism that causes low metabolic ... high in pregnant mothers and in school children as evidenced by research articles. Especially in.

  5. Vitamin D deficiency in pediatric critical illness

    Directory of Open Access Journals (Sweden)

    Kiran B. Hebbar, MD, FCCM

    2014-12-01

    Conclusions: Vitamin D deficiency is common in the pediatric critical care population. Significant seasonal differences were noted even in the critically ill. The role of vitamin D in certain diseases like asthma in critically ill children merit further study.

  6. Isoprenoid biosynthesis and mevalonate kinase deficiency

    NARCIS (Netherlands)

    Henneman, L.

    2011-01-01

    Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree. De koortsaanvallen treden gemiddeld eens

  7. PREVALENCE AND SEVERITY OF IODINE DEFICIENCY ...

    African Journals Online (AJOL)

    GB

    2012-11-03

    Nov 3, 2012 ... BACKGROUND: Iodine deficiency disorder is a major problem worldwide, .... method involves the titration of a solution of salt ..... blocks the thyroid peroxidase enzyme (29, 34). .... Modern Nutrition in Health and Disease, Lea.

  8. Genetics Home Reference: mitochondrial trifunctional protein deficiency

    Science.gov (United States)

    ... link) ACT Sheet: Elevated C16-OH +/- C18:1-OH and Other Long Chain Acylcarnitines (PDF) Genetic Testing (1 link) Genetic Testing Registry: Mitochondrial trifunctional protein deficiency Other Diagnosis and Management Resources (3 links) ...

  9. Genetics Home Reference: guanidinoacetate methyltransferase deficiency

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions guanidinoacetate methyltransferase deficiency guanidinoacetate methyltransferase ...

  10. Genetics Home Reference: GM3 synthase deficiency

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions GM3 synthase deficiency GM3 synthase ...

  11. Impulsivity: A deficiency of inhibitory control?

    NARCIS (Netherlands)

    Lansbergen, M.M.

    2007-01-01

    Impulsivity has been defined as acting without thinking. Impulsivity can be quantified by impulsivity questionnaires, but also by behavioral paradigms which tax inhibitory control. Previous research has repeatedly demonstrated deficient inhibitory control in psychopathological samples characterized

  12. Genetics Home Reference: familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... Rare Disorders (NORD) RareConnect GeneReviews (1 link) Familial Lipoprotein Lipase Deficiency ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  13. 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 ...

  14. Iron-Deficiency Anemia and Stroke

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The prevalence of iron-deficiency anemia (IDA) in young children at the time of stroke and in age-matched healthy controls was compared in a case-control study conducted at the Hospital for Sick Children, Toronto, Canada.

  15. Genetics Home Reference: glutamate formiminotransferase deficiency

    Science.gov (United States)

    ... glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number ... named? Additional Information & Resources MedlinePlus (4 ... Encyclopedia: Megaloblastic Anemia (image) Health Topic: Amino Acid Metabolism Disorders Health ...

  16. VITAMIN A DEFICIENCY IN NIGERIAN CHILDREN

    African Journals Online (AJOL)

    Dr Olaleye

    Keywords: Vitamin A deficiency, Nigeria, Children. INTRODUCTION. Vitamin A ... related illness when the diet is supplemented with. Vitamin A. This .... rates of 49.6% and 48.6% respectively. The prevalence .... Bangladesh. J. Trop. Paediatr.

  17. Genetics Home Reference: dihydropyrimidine dehydrogenase deficiency

    Science.gov (United States)

    ... of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also ... dehydrogenase deficiency , with its early-onset neurological symptoms, is a rare disorder. Its prevalence is ...

  18. Genetics Home Reference: phosphoglycerate mutase deficiency

    Science.gov (United States)

    ... production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in ... phosphoglycerate mutase deficiency , including episodes of exercise-induced muscle cramping and myoglobinuria. Related Information What does it mean ...

  19. Iron Deficiency, Zinc, Magnesium, Vitamin Deficiencies in Crohn's Disease: Substitute or Not?

    Science.gov (United States)

    Kruis, Wolfgang; Phuong Nguyen, G

    2016-01-01

    Inflammatory bowel disease (IBD) is characterized by inflammatory reactions, complications, extraintestinal manifestations and a loss of intestinal functions, for example, failures of absorption and secretion. According to intestinal dysfunction, a wide array of pathogenetic pathways is existing leading to iron deficiency and numerous vitamins as well as trace element deficiencies. Complications, symptoms and signs of those deficiencies are common in IBD with varying degrees of clinical significance. This review focuses on selected micronutrients including iron, zinc, magnesium and some vitamins. Epidemiology with respect to IBD, pathophysiology, diagnosis and clinical aspects are addressed. Finally, some suggestions for treatment of deficient situations are discussed. In conclusion, some micronutrients have significant impact on complications and quality of life in IBD. Deficiencies may even influence the course of the disease. Those deficiencies should be thoroughly supplemented.

  20. Dietary restriction causing iodine-deficient goitre.

    Science.gov (United States)

    Cheetham, Tim; Plumb, Emma; Callaghan, James; Jackson, Michael; Michaelis, Louise

    2015-08-01

    Iodine-deficient goitre was common in some parts of the UK prior to the introduction of salt iodisation. Many contemporary salt preparations do not contain much iodine, and there are renewed concerns about the iodine status of the population. We present a boy with severe allergy who developed goitre and significant thyroid dysfunction in association with an iodine-deficient 'food-restricted' diet. The case highlights the importance of a comprehensive nutritional assessment in all children on multiple food restrictions.

  1. [Nutritive correction and iodine deficiency in children].

    Science.gov (United States)

    Shilina, N M; Pozdniakov, A L

    2007-01-01

    It is well known that deficiency of calcium and iodine--essential food components needed for children's valuable growth and development--is observed presently in children of different age. Considering this fact, the "Danone" company together with Institute of Nutrition (Russia) has developed a special formula, including calcium, iodine and vitamin D, for dairy products "Rastishka". The use of these products facilitates both reducing the risk of the above mentioned microelement deficiency and children's growth and development.

  2. Environmental controls on iodine deficiency disorders (IDD)

    OpenAIRE

    Johnson, C C; Fordyce, F.M.

    2003-01-01

    It is estimated that in excess of one billion people world-wide are at risk from iodine deficiency disorders (IDD), the most obvious manifestation of which is goitre (see Fordyce, 2000). Iodine deficiency is the world’s most common cause of mental retardation and brain damage, and the negative effects of impaired mental function have a significant impact on the social and economic development of communities. Although IDD can be caused by a number of factors, goitrogens fo...

  3. Severe Vitamin D Deficiency Causing Kyphoscoliosis

    OpenAIRE

    Singhai, Abhishek; Banzal, Subodh

    2013-01-01

    Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been ...

  4. Colour vision deficiency and physics teaching

    Science.gov (United States)

    Maule, Louise; Featonby, David

    2016-05-01

    1 in 12 males suffer from some form of colour vision deficiency (CVD) which in the present colour dominated world of education presentation can be a severe disadvantage. Although aware of ‘colourblindness’ most teachers make little or no adjustment for these pupils for whom tasks may be more difficult. This article examines colour vision deficiency and looks at ways in which we can help the many students who have this problem.

  5. Androgen deficiency and metabolic syndrome in men

    OpenAIRE

    Winter, Ashley G; Zhao, Fujun; Lee, Richard K.

    2014-01-01

    Metabolic syndrome (MetS) is a growing health concern worldwide. Initially a point of interest in cardiovascular events, the cluster of HTN, obesity, dyslipidemia, and insulin resistance known as MetS has become associated with a variety of other disease processes, including androgen deficiency and late-onset hypogonadism (LOH). Men with MetS are at a higher risk of developing androgen deficiency, and routine screening of testosterone (T) is advised in this population. The pathophysiology of ...

  6. Cushing, acromegaly, GH deficiency and tendons

    OpenAIRE

    2014-01-01

    Cushing’s syndrome, induced by an endogenous or exogenous cortisol excess, and acromegaly, the clinical syndrome caused by growth hormone (GH) excess in adulthood, as well as the disease induced by GH deficiency (GHD), represent perfect models for the evaluation of the effects induced by chronic exposure in vivo, respectively, to cortisol and GH/IGF-1 excess or deficiency on the complex structure of the tendons as well as on the related post-traumatic repair mechanism. Although the literature...

  7. Anemia and iron deficiency in heart failure.

    Science.gov (United States)

    Gil, Victor M; Ferreira, Jorge S

    2014-01-01

    Heart failure is a common problem and a major cause of mortality, morbidity and impaired quality of life. Anemia is a frequent comorbidity in heart failure and further worsens prognosis and disability. Regardless of anemia status, iron deficiency is a common and usually unidentified problem in patients with heart failure. This article reviews the mechanisms, impact on outcomes and treatment of anemia and iron deficiency in patients with heart failure.

  8. Targeting Iron Deficiency Anemia in Heart Failure.

    Science.gov (United States)

    Saraon, Tajinderpal; Katz, Stuart D

    2016-01-01

    Iron deficiency is common in heart failure (HF) patients, and is associated with increased risk of adverse clinical outcomes. Clinical trials of intravenous iron supplementation in iron-deficient HF patients have demonstrated short-term improvement in functional capacity and quality of life. In some trials, the benefits of iron supplementation were independent of the hemoglobin levels. Additional investigations of iron supplementation are needed to characterize the mechanisms contributing to clinical benefit and long-term safety in HF.

  9. Deficiently Extremal Cohen-Macaulay Algebras

    Indian Academy of Sciences (India)

    Chanchal Kumar; Pavinder Singh

    2010-04-01

    The aim of this paper is to study homological properties of deficiently extremal Cohen–Macaulay algebras. Eagon–Reiner showed that the Stanley–Reisner ring of a simplicial complex has a linear resolution if and only if the Alexander dual of the simplicial complex is Cohen–Macaulay. An extension of a special case of Eagon–Reiner theorem is obtained for deficiently extremal Cohen–Macaulay Stanley–Reisner rings.

  10. Iron deficiency or anemia of inflammation?

    OpenAIRE

    Nairz, Manfred; Theurl, Igor; Wolf, Dominik; Weiss, Günter

    2016-01-01

    Summary Iron deficiency and immune activation are the two most frequent causes of anemia, both of which are based on disturbances of iron homeostasis. Iron deficiency anemia results from a reduction of the body’s iron content due to blood loss, inadequate dietary iron intake, its malabsorption, or increased iron demand. Immune activation drives a diversion of iron fluxes from the erythropoietic bone marrow, where hemoglobinization takes place, to storage sites, particularly the mononuclear ph...

  11. Tob deficiency superenhances osteoblastic activity after ovariectomy to block estrogen deficiency-induced osteoporosis

    OpenAIRE

    Usui, Michihiko; Yoshida, Yutaka; Tsuji, Kunikazu; OIKAWA, kaoru; Miyazono, Kohei; Ishikawa, Isao; YAMAMOTO, Tadashi; Nifuji, Akira; Noda, Masaki

    2004-01-01

    Tob (transducer of erbB2) is a member of antiproliferative family proteins and acts as a bone morphogenic protein inhibitor as well as a suppressor of proliferation in T cells, which have been implicated in postmenopausal bone loss. To determine the effect of Tob deficiency on estrogen deficiency-induced bone loss, we analyzed bone metabolism after ovariectomy or sham operation in Tob-deficient mice. Ovariectomy in WT mice decreased trabecular bone volume and bone mineral density (BMD) as exp...

  12. [Approaches to vitamin B12 deficiency].

    Science.gov (United States)

    Russcher, Henk; Heil, Sandra G; Slobbe, Lennert; Lindemans, Jan

    2012-01-01

    A 28-year-old female vegetarian was referred to a specialist in internal medicine with persistent iron deficiency. Laboratory analysis revealed microcytic anaemia with low ferritin levels but normal total vitamin B12 levels. The red blood cell distribution width, however, showed a very wide variation in red blood cell sizes, indicating a coexisting vitamin B12 deficiency, which was confirmed by the low concentration of active vitamin B12. Another patient, a 69-year-old woman with a history of previous gastric surgery and renal insufficiency as a complication of diabetes mellitus, was suspected to be deficient in vitamin B12, as she had low total vitamin B12 levels and an accumulation of methylmalonic acid and homocysteine in her blood. Testing the total concentration of vitamin B12 alone has insufficient diagnostic accuracy and no accepted gold standard is available for diagnosing vitamin B12 deficiency. With the development of newer tests, such as measuring holotranscobalamin II (concentration of active vitamin B12), atypical and subclinical deficiency states can be recognized. A new approach to diagnosing vitamin B12 deficiency is presented, based upon these 2 case descriptions.

  13. Recognition and management of vitamin D deficiency.

    Science.gov (United States)

    Bordelon, Paula; Ghetu, Maria V; Langan, Robert C

    2009-10-15

    Vitamin D deficiency affects persons of all ages. Common manifestations of vitamin D deficiency are symmetric low back pain, proximal muscle weakness, muscle aches, and throbbing bone pain elicited with pressure over the sternum or tibia. A 25-hydroxyvitamin D level should be obtained in patients with suspected vitamin D deficiency. Deficiency is defined as a serum 25-hydroxyvitamin D level of less than 20 ng per mL (50 nmol per L), and insufficiency is defined as a serum 25-hydroxyvitamin D level of 20 to 30 ng per mL (50 to 75 nmol per L). The goal of treatment is to normalize vitamin D levels to relieve symptoms and decrease the risk of fractures, falls, and other adverse health outcomes. To prevent vitamin D deficiency, the American Academy of Pediatrics recommends that infants and children receive at least 400 IU per day from diet and supplements. Evidence shows that vitamin D supplementation of at least 700 to 800 IU per day reduces fracture and fall rates in adults. In persons with vitamin D deficiency, treatment may include oral ergocalciferol (vitamin D2) at 50,000 IU per week for eight weeks. After vitamin D levels normalize, experts recommend maintenance dosages of cholecalciferol (vitamin D3) at 800 to 1,000 IU per day from dietary and supplemental sources.

  14. An Approach to Iron-Deficiency Anemia

    Directory of Open Access Journals (Sweden)

    Imran Rasul

    2001-01-01

    Full Text Available Iron-deficiency anemia is a common reason for referral to a gastroenterologist. In adult men and postmenopausal women, gastrointestinal tract pathology is often the cause of iron-deficiency anemia, so patients are frequently referred for endoscopic evaluation. Endoscopy may be costly and at times difficult for the patient. Therefore, physicians need to know what lesions can be identified reliably and, more importantly, the importance of ruling out life-threatening conditions such as occult malignancy. Over the past decade, a number of prospective studies have been completed that examined the yield of endoscopy in the investigation of iron-deficiency anemia. The present article provides a broad overview of iron-deficiency anemia, with particular emphasis on hematological diagnosis, etiology, the use of endoscopy in identifying lesions and iron-repletion therapy. Other clinical scenarios, including assessment of patients on anti-inflammatory or anticoagulation therapy and patients with bleeding of obscure origin, are also addressed. The present article provides a diagnostic algorithm to iron-deficiency anemia, which describes a more systematic manner in which to approach iron-deficiency anemia.

  15. Lower limb deficient children in the Netherlands : epidemiological aspects

    NARCIS (Netherlands)

    Rijnders, LJM; Boonstra, AM; Groothoff, JW; Cornel, MC; Eisma, WH

    2000-01-01

    information on the characteristics of children with limb deficiencies and amputations in the Netherlands is largely lacking. The present study aimed to collect data about the prevalence of congenital deficiencies, the ratio of congenital to acquired limb deficiencies, types of lower leg deficiency o

  16. 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

  17. Paraoxonase and arylesterase activities in children with iron deficiency anemia and vitamin B12 deficiency anemia.

    Science.gov (United States)

    Koc, Ahmet; Cengiz, Murad; Ozdemir, Zeynep Canan; Celik, Hakim

    2012-05-01

    Paraoxonase-1 is an esterase enzyme and it has 3 types of activity, namely paraoxonase, arylesterase, and diazoxonase. It has been reported that paraoxonase-1 deficiency is related to increased susceptibility to development of atherosclerosis and cardiovascular disease. The aim of this study was to investigate serum paraoxonase and arylesterase activities in children with iron deficiency anemia and vitamin B(12) deficiency anemia. Thirty children with iron deficiency anemia, 30 children with vitamin B(12) deficiency anemia, and 40 healthy children aged 6 months to 6 years were enrolled in this study. Serum paraoxonase and arylesterase activities were measured with a spectrophotometer by using commercially available kits. Mean paraoxonase and arylesterase activities in vitamin B(12) deficiency anemia group (103 ± 73 and 102 ± 41 U/L, respectively) were significantly lower than mean activities of control group (188 ± 100 and 147 ± 34 U/L, respectively; P iron deficiency anemia group (165 ± 103 and 138 ± 39 U/L, respectively; P iron deficiency anemia and control groups (P > .05). Paraoxonase and arylesterase activities significantly increased after treatment with vitamin B(12) in vitamin B(12) deficiency anemia; however, there were no significant changes in the activities of these enzymes after iron treatment in iron deficiency anemia group. Important correlations were found between vitamin B(12) levels and both paraoxonase and arylesterase activities (r = .367, P deficiency anemia causes important reductions in paraoxonase and arylesterase activities, and after vitamin B(12) therapy the activities of these enzymes returned to near-normal levels.

  18. Complement genetics, deficiencies, and disease associations.

    Science.gov (United States)

    Mayilyan, Karine R

    2012-07-01

    The complement system is a key component of innate immunity. More than 45 genes encoding the proteins of complement components or their isotypes and subunits, receptors, and regulators have been discovered. These genes are distributed throughout different chromosomes, with 19 genes comprising three significant complement gene clusters in the human genome. Genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. Deficiencies of mannan-binding lectin (MBL) and the early components of the alternative (factor D, properdin) and terminal pathways (from C3 onward components: C5, C6, C7, C8, C9) increase susceptibility to infections and their recurrence. While the association of MBL deficiency with a number of autoimmune and infectious disorders has been well established, the effects of the deficiency of other lectin pathway components (ficolins, MASPs) have been less extensively investigated due to our incomplete knowledge of the genetic background of such deficiencies and the functional activity of those components. For complement regulators and receptors, the consequences of their genetic deficiency vary depending on their specific involvement in the regulatory or signalling steps within the complement cascade and beyond. This article reviews current knowledge and concepts about the genetic load of complement component deficiencies and their association with diseases. An integrative presentation of genetic data with the latest updates provides a background to further investigations of the disease association investigations of the complement system from the perspective of systems biology and systems genetics.

  19. [Diagnostic criteria for vitamin D-deficient rickets and hypocalcemia-].

    Science.gov (United States)

    Ozono, Keiichi

    2016-02-01

    Vitamin D deficiency causes rickets or osteomalacia, which is associated with hypomineralization of bone and chondrocytes, and/or hypocalcemia. Accumulating evidence indicates increase in frequency of vitamin D deficiency due to insufficient intake of vitamin D and calcium and decrease in sunshine. It is necessary for clinician to diagnose vitamin D deficiency accurately and treat patients with vitamin D deficiency adequately. For the purpose, clinical guideline or expert opinion on vitamin D deficiency has been reported.

  20. Dietary iodine deficiency in the Gippsland region of Victoria, Australia

    OpenAIRE

    Rahman, Mohammad Ashequr

    2017-01-01

    Background Iodine is an essential micronutrient for the production of thyroid hormones and normal neurodevelopment. A deficiency in iodine causes a number of defects collectively known as Iodine Deficiency Disorder (IDD). Even mild iodine deficiency in pregnancy is a risk factor for babies as it may result in impaired intellectual development; this is the most serious consequence of mild to moderate dietary iodine deficiency. Australia overall is iodine deficient. However, in the Nationa...

  1. Iron deficiency anemia from diagnosis to treatment in children

    OpenAIRE

    Özdemir, Nihal

    2015-01-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms “iron deficiency” and “iron deficiency anemia” are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake toge...

  2. Experimental Copper Deficiency, Chromium Deficiency and Additional Molybdenum Supplementation in Goats – Pathological Findings

    Directory of Open Access Journals (Sweden)

    Frank A

    2001-09-01

    Full Text Available Secondary copper (Cu deficiency, chromium (Cr deficiency and molybdenosis (Mo has been suggested to cause the "mysterious" moose disease in the southwest of Sweden. The present experiment was performed on goats to investigate the clinical, chemical, and pathological alterations after 20 months feeding of a semi-synthetic diet deficient in Cu and Cr. Four groups were included in the study: control group (n = 4, Cu-deficient group (group 1, n = 4, Cr-deficient group (group 2, n = 2 and Cu+Cr-deficient group (group 3, n = 3. Group 3 was additionally supplemented with tetrathiomolybdate during the last 2 months of the experiment. Main histopathological findings in groups 1 and 3 were the lesions in the liver, characterised by a severe active fibrosis, bile duct proliferation, haemosiderosis and mild necroses. Additionally, degenerative alterations of the exocrine pancreas were prominent in groups 1 and 3. Lesions in group 3 were more pronounced than in group 1. In group 3, the skin showed an atrophic dermatosis, while in group 2 a crusty dermatitis caused by Candida spp. was observed. This study shows that liver, pancreas and skin are mainly affected by a long term deficiency of copper and the findings are complicated by molybdenum application while chromium deficiency produced no histomorphological effects in our study.

  3. Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency.

    NARCIS (Netherlands)

    Hasselt, P.M. van; Kok, K.F.; Vorselaars, A.D.; Vlerken, L. van; Nieuwenhuys, E.; Koning, T.J. de; Vries, R.A. de; Houwen, R.H.J.

    2009-01-01

    OBJECTIVE: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-1-antitrypsin deficiency (A1AD) induces a variable degr

  4. Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency

    NARCIS (Netherlands)

    van Hasselt, P. M.; Kok, K.; Vorselaars, A. D. M.; van Vlerken, L.; Nieuwenhuys, E.; de Koning, T. J.; de Vries, Rindert; Houwen, R. H. J.

    2009-01-01

    Objective: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-l-antitrypsin deficiency (A1AD) induces a variable degr

  5. 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

  6. Vitamin D Deficiency Among Professional Basketball Players.

    Science.gov (United States)

    Fishman, Matthew P; Lombardo, Stephen J; Kharrazi, F Daniel

    2016-07-01

    Vitamin D plays an important role in several systems of the human body. Various studies have linked vitamin D deficiency to stress and insufficiency fractures, muscle recovery and function, and athletic performance. The prevalence of vitamin D deficiency in the elite athletic population has not been extensively studied, and very few reports exist among professional athletes. There is a high prevalence of vitamin D deficiency or insufficiency among players attending the National Basketball Association (NBA) Combine. Cross-sectional study; Level of evidence, 3. This is a retrospective review of data previously collected as part of the routine medical evaluation of players in the NBA Combines from 2009 through 2013. Player parameters evaluated were height, weight, body mass index (BMI), and vitamin D level. Statistical analysis using t tests and analysis of variance was used to detect any correlation between the player parameters and vitamin D level. Vitamin D levels were categorized as deficient (32 ng/mL). After institutional review board approval was submitted to the NBA, the NBA released deidentified data on 279 players who participated in the combines from 2009 through 2013. There were 90 players (32.3%) who were deficient, 131 players (47.0%) who were insufficient, and 58 players (20.8%) who were sufficient. A total of 221 players (79.3%) were either vitamin D deficient or insufficient. Among all players included, the average vitamin D level was 25.6 ± 10.2 ng/mL. Among the players who were deficient, insufficient, and sufficient, the average vitamin D levels were 16.1 ± 2.1 ng/mL, 25.0 ± 3.4 ng/mL, and 41.6 ± 8.6 ng/mL, respectively. Player height and weight were significantly increased in vitamin D-sufficient players compared with players who were not sufficient (P = .0008 and .009, respectively). Player age and BMI did not significantly differ depending on vitamin D status (P = .15 and .77, respectively). There is a high prevalence of vitamin D deficiency

  7. [Control of iron deficiency in developing countries].

    Science.gov (United States)

    Berger, Jacques; Dillon, Jean-Claude

    2002-01-01

    Iron deficiency is the most prevalent nutritional disorder worldwide, especially in developing countries. It occurs when iron absorption cannot compensate iron requirements and losses. Requirements are especially high in pregnant women, infants, young children and adolescents who run a higher risk of being iron-deficient. In developing countries, the main cause of iron deficiency is the low iron bioavailability of the diet. The consequences of iron deficiency are many and serious, affecting not only individuals' health but also the development of societies and countries. The prevention and the control of iron deficiency and anemia in all groups of a population with different iron requirements imply to coordinate different interventions. Iron fortification of staple foods or condiments directed to the whole population is a sustainable and low cost-effective approach. However, at some periods of life, especially during pregnancy and in children from the age of 6 months, iron requirements are high. For pregnant women, the current approach favours the daily iron-folate supplementation during pregnancy but the results in terms of public health are disappointing. The preventive weekly iron-folate supplementation of women during their reproductive life, whose efficacy is recognized, offers a promising alternative; its impact in terms of public health is under current evaluation. For infants and young children, iron fortification of complementary food is effective but this food is generally imported and economically inaccessible to populations with limited resources. The production, by small private units from local products, of complementary foods of low viscosity, good nutritional quality, fortified with vitamins and minerals, and of low cost is at hand in several countries. When complementary foods are not available, the preventive iron supplementation from 6 to 18 months of age has to be advised. This approach should be strengthened by the advantages of the weekly

  8. Vitamin D Deficiency in Medical Inpatients: A Retrospective Study of Implications of Untreated Versus Treated Deficiency

    Science.gov (United States)

    Zaidi, Syed Asher Hussain; Singh, Gurjit; Owojori, Olukolade; Kela, Ram; Spoors, Shirley; Abbas, Mohamed; Barton, Florence; Rogers, Caroline

    2016-01-01

    Vitamin D deficiency and insufficiency may further increase fracture risk in patients with decreased bone mineral density. A cross-sectional study on serum vitamin D concentrations in medical inpatients was conducted at Bassetlaw District General Hospital between April 2014 and January 2015 (10 months), and the relationship of serum vitamin D concentrations with calcium and alkaline phosphatase was evaluated. 25-Hydroxyvitamin D immunoassays were used and analyzed in the local laboratory. The total number of patients analyzed was 200, age range 18–99 years, with mean age of 76 years. The most common presentation was found to be fall/collapse. The following cutoff points for serum vitamin D were used: levels ≤30 nmol/L for severe deficiency, >30–50 nmol/L for moderate deficiency, >50–75 nmol/L for mild deficiency, and anything above 75 nmol/L as normal. Of the 209 participants examined, 78 (37.3%) participants had mild vitamin D deficiency, 54 (25.8%) participants had moderate vitamin D deficiency, 68 (32.5%) participants had severe vitamin D deficiency, and 9 (4.3%) participants with low vitamin D levels died during their admission. Of the 122 moderate/severe patients, 70 (57.4%) patients had their vitamin D deficiency treated, according to local Trust guidelines. The study found no relationship between serum calcium levels and vitamin D deficiency, whereas patients’ alkaline phosphatase levels were found to be higher with increased severity of vitamin D deficiency. The study examined the implications of untreated severe/moderate vitamin D deficiency compared to treated deficiency, in terms of the frequency of readmission with similar complaints. It was found that the rate of readmission within one year in patients who were not treated was 57%, compared to 48% in patients whose vitamin D deficiency was treated. Presenting after falls was a recurring theme. It was concluded that even if moderate vitamin D deficiency can be asymptomatic, it is important to

  9. 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.

  10. Clinical implications of vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Beata Matyjaszek-Matuszek

    2015-06-01

    Full Text Available Vitamin D deficiency is a common medical problem worldwide and its prevalence rises along with latitude, obesity, sedentary lifestyle, limited sunlight exposure and aging. A great body of evidence has shown that patients with vitamin D deficiency have increased cardiovascular risks and total mortality. Conversely, the presence of comorbidities progressive with age such as abdominal obesity, insulin resistance, type 2 diabetes and hypertension places the patients at an increased risk of vitamin D deficiency. The multidirectional effect of vitamin D deficiency is present in different phases of the aging process. Based on the literature review, the risk factors for vitamin D insufficiency most often found in post-menopausal women include limited sun exposure and time spent outdoors, inadequate dietary vitamin D intake, winter season and increased age. Vitamin D supplementation in this group might offer prevention of falls and fractures and may be beneficial for cardiovascular health, what may be especially important in osteoporotic and elderly populations. Prevention and treatment processes involve education regarding sunlight exposure and pharmacological cholecalciferol supplementation according to the recommendations for Central Europe. This manuscript reviews the role of vitamin D and its deficiency and considers their clinical implications, with particular regard to peri- and postmenopausal women.

  11. Caspase 12 in calnexin-deficient cells.

    Science.gov (United States)

    Groenendyk, Jody; Zuppini, Anna; Shore, Gordon; Opas, Michal; Bleackley, R Chris; Michalak, Marek

    2006-11-07

    We investigated a role for calnexin, caspase 12, and Bap31 in endoplasmic reticulum stress-induced apoptosis in calnexin-deficient mouse embryonic fibroblasts and a calnexin-deficient human T cell line (NKR). We showed that calnexin-deficient mouse embryonic fibroblasts are relatively resistant to endoplasmic reticulum stress-induced apoptosis. Western blot analysis demonstrated that both wild-type and calnexin-deficient cells contained a caspase 12 protein. Caspase 12 expression was slightly inhibited in calnexin-deficient cells, and the protein carried out specific cleavage in the presence of thapsigargin. Immunoprecipitation experiments revealed that in the endoplasmic reticulum, caspase 12 forms complexes with Bap31 and calnexin. Treatment of wild-type cells with thapsigargin induced apoptosis and cleavage of Bap31. However, in the absence of calnexin, there was no significant cleavage of Bap31. There was also a negligible processing of caspase 8 in these cells. This work indicates that calnexin may play a role in modulating the sensitivity of a cell to apoptosis induced by endoplasmic reticulum stress, in conjunction with caspase 12 and Bap31.

  12. Biochemical Assessment of Coenzyme Q10 Deficiency

    Directory of Open Access Journals (Sweden)

    Juan Carlos Rodríguez-Aguilera

    2017-03-01

    Full Text Available Coenzyme Q10 (CoQ10 deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ10 biosynthesis. Mutations in any of these genes are responsible for the primary CoQ10 deficiency, but there are also different conditions that induce secondary CoQ10 deficiency including mitochondrial DNA (mtDNA depletion and mutations in genes involved in the fatty acid β-oxidation pathway. The diagnosis of CoQ10 deficiencies is determined by the decrease of its content in skeletal muscle and/or dermal skin fibroblasts. Dietary CoQ10 supplementation is the only available treatment for these deficiencies that require a rapid and distinct diagnosis. Here we review methods for determining CoQ10 content by HPLC separation and identification using alternative approaches including electrochemical detection and mass spectrometry. Also, we review procedures to determine the CoQ10 biosynthesis rate using labeled precursors.

  13. Overview: recognizing the problem of magnesium deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Seelig, M.S.

    1988-01-01

    The magnesium content of the usual American diet is less than the recommended dietary allowance. Excesses of some macro- and micro-nutrients interact with Mg, increasing its requirements. Marginal deficiency of Mg is not associated with hypomagnesemia, is not characterized by typical manifestations, as is thus difficult to diagnose. Serum or plasma Mg levels are held within narrow limits unless tissue levels are very low, or renal function is poor. Vulnerability to Mg deficiency increases during growth and development, pregnancy, when under physical or psychological stress, and during illness or its treatment that interferes with absorption or causes loss of Mg. Evidence of biochemical changes of early Mg deficiency is rarely sought, although the roles of Mg in many enzyme systems are recognized. The effects of Mg deficiency on metabolism, even in disorders caused by vitamin dependencies in which Mg is a co-factor, are largely unexplored. Deficiency of Mg is diagnosed confidently when the laboratory reports hypomagnesemia in patients with convulsions or arrhythmias. Without these signs, Mg levels are not often ordered, even in the presence of neuromuscular irritability such as respond to Mg repletion. Because Mg supplementation or Mg-sparing drugs protect against premature or ectopic heart beats and sudden death, to which diuretic-treated hypertensive patients are at risk, it is increasingly being advised that their Mg status be determined.

  14. The epidemiology of global micronutrient deficiencies.

    Science.gov (United States)

    Bailey, Regan L; West, Keith P; Black, Robert E

    2015-01-01

    Micronutrients are essential to sustain life and for optimal physiological function. Widespread global micronutrient deficiencies (MNDs) exist, with pregnant women and their children under 5 years at the highest risk. Iron, iodine, folate, vitamin A, and zinc deficiencies are the most widespread MNDs, and all these MNDs are common contributors to poor growth, intellectual impairments, perinatal complications, and increased risk of morbidity and mortality. Iron deficiency is the most common MND worldwide and leads to microcytic anemia, decreased capacity for work, as well as impaired immune and endocrine function. Iodine deficiency disorder is also widespread and results in goiter, mental retardation, or reduced cognitive function. Adequate zinc is necessary for optimal immune function, and deficiency is associated with an increased incidence of diarrhea and acute respiratory infections, major causes of death in those diversification. It is widely accepted that intervention in the first 1,000 days is critical to break the cycle of malnutrition; however, a coordinated, sustainable commitment to scaling up nutrition at the global level is still needed. Understanding the epidemiology of MNDs is critical to understand what intervention strategies will work best under different conditions.

  15. Sneddon syndrome associated with Protein S deficiency.

    Science.gov (United States)

    Sayin, Refah; Bilgili, Serap Gunes; Karadag, Ayse Serap; Tombul, Temel

    2012-01-01

    Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  16. MRI findings of complete growth hormone deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Ichiba, Yozo [National Hospital of Okayama (Japan)

    1995-10-01

    Magnetic resonance (MR) imaging was performed on the pituitary gland of 20 children (age range, 2-11 years) with short stature due to growth hormone deficiency. Sixteen patients with multiple pituitary hormone deficiency showed disappearance of the pituitary stalk, disappearance of high signal area of the posterior pituitary, presence of ectopic pituitary, and decreased volume of the anterior pituitary. Many of them had a history of perinatal abnormalities such as asphyxia at delivery, breech delivery, and bradytocia. On the contrary, patients with isolated growth hormone deficiency presented no abnormal findings on MR images, and had no history of perinatal abnormalities. The findings of pituitary stalk separation syndrome suggested the presence of multiple hypopituitarism. (S.Y.).

  17. Paroxysmal Nonepileptic Events in Glut1 Deficiency.

    Science.gov (United States)

    Klepper, Joerg; Leiendecker, Baerbel; Eltze, Christin; Heussinger, Nicole

    2016-01-01

    View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events. Fifty-six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D-associated exercise-induced paroxysmal dyskinesias.

  18. Ornithine Transcarbamylase Deficiency in Iranian Children

    Directory of Open Access Journals (Sweden)

    HR Joshaghani

    2003-08-01

    Full Text Available Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level. Ornithine transcarbamylase enzyme (OTC is the second enzyme in the urea cycle that exists in mitochondria. OTC deficiency is the most common hereditary disorder in the urea cycle. In this study, 45 hyper ammonia patients were selected (2-13 years old and assayed for serum OTC, serum aspartate aminotransferase (AST, serum alanine aminotransferase (ALT. Four patients (n=45, 8.9% suffered from OTC deficiency. One patient was male (n=29, 3.4% and the others were female (n=16, 18.8%. About half of children (53.3 with hyper ammonia have liver disease. Further studies on OTC deficiency and OTC gene mutations in Iran are recommended.

  19. Multispectral Analysis of Color Vision Deficiency Tests

    Directory of Open Access Journals (Sweden)

    Sergejs FOMINS

    2011-03-01

    Full Text Available Color deficiency tests are usually produced by means of polygraphy technologies and help to diagnose the type and severity of the color deficiencies. Due to different factors, as lighting conditions or age of the test, standard characteristics of these tests fail, thus not allowing diagnosing unambiguously the degree of different color deficiency. Multispectral camera was used to acquire the spectral images of the Ishihara and Rabkin pseudoisochromatic plates in the visible spectrum. Spectral data was converted to cone signals, and successive mathematics applied to provide a simple simulation of the test performance. Colorimetric data of the each pixel of the test image can be calculated and distribution of color coordinates is presented.http://dx.doi.org/10.5755/j01.ms.17.1.259

  20. 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....... They represent not only the first regulators of zinc homeostasis identified in plants, but also a very promising starting-point that can provide new insights into the molecular basis of how plants sense and adapt to the stress of zinc deficiency. Considering the available information thus far we propose...... in this review a putative model of how plants sense zinc deficiency....

  1. [Testosterone deficiency, metabolic syndrome and diabetes mellitus].

    Science.gov (United States)

    Fernández-Miró, Mercè; Chillarón, Juan J; Pedro-Botet, Juan

    2016-01-15

    Testosterone deficiency in adult age is associated with a decrease in libido, energy, hematocrit, muscle mass and bone mineral density, as well as with depression. More recently, testosterone deficiency has also been associated with various components of the metabolic syndrome, which in turn is associated with a five-fold increase in the risk of cardiovascular disease. Low testosterone levels are associated with increased insulin resistance, increase in fat mass, low HDL cholesterol, higher triglyceride levels and hypertension. Testosterone replacement therapy in patients with testosterone deficiency and type 2 diabetes mellitus and/or metabolic syndrome has shown reductions in insulin resistance, total cholesterol, LDL cholesterol and triglycerides and improvement in glycemic control and anthropometric parameters. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  2. Sneddon syndrome associated with Protein S deficiency

    Directory of Open Access Journals (Sweden)

    Refah Sayin

    2012-01-01

    Full Text Available Sneddon syndrome (SS is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  3. Experimental models of melatonin-deficient hypertension.

    Science.gov (United States)

    Simko, Fedor; Reiter, Russel J; Pechanova, Olga; Paulis, Ludovit

    2013-01-01

    Melatonin secreted by the pineal gland plays an important role in the regulation of blood pressure (BP) and its administration reduces hypertension both in animals and humans. There are two experimental models of melatonin-deficient hypertension: one induced by pinealectomy and another by continuous 24 hour exposure to light. Both models cause melatonin deficiency and prevent darkness-mediated nocturnal melatonin secretion and are associated with increased BP and myocardial, vascular and renal dysfunction. These models also lead to neurohumoral activation of the renin-angiotensin system, sympathetic nervous system, adrenocorticotrophin-glucocorticoid axis and cause insulin resistance. Together, these alterations contribute to rise in blood pressure by vasoconstrictive or circulatory fluid volume overload. The light induced hypertension model mimics the melatonin deficiency in patients with insufficient nocturnal BP decline, in those who have night shift or who are exposed to environmental light pollution. For this reason, this model is useful in development of anti-hypertensive drugs.

  4. Vitamin D deficiency in early pregnancy.

    Directory of Open Access Journals (Sweden)

    Shannon K Flood-Nichols

    Full Text Available Vitamin D deficiency is a common problem in reproductive-aged women in the United States. The effect of vitamin D deficiency in pregnancy is unknown, but has been associated with adverse pregnancy outcomes. The objective of this study was to analyze the relationship between vitamin D deficiency in the first trimester and subsequent clinical outcomes.This is a retrospective cohort study. Plasma was collected in the first trimester from 310 nulliparous women with singleton gestations without significant medical problems. Competitive enzymatic vitamin D assays were performed on banked plasma specimens and pregnancy outcomes were collected after delivery. Logistic regression was performed on patients stratified by plasma vitamin D concentration and the following combined clinical outcomes: preeclampsia, preterm delivery, intrauterine growth restriction, gestational diabetes, and spontaneous abortion.Vitamin D concentrations were obtained from 235 patients (mean age 24.3 years, range 18-40 years. Seventy percent of our study population was vitamin D insufficient with a serum concentration less than 30 ng/mL (mean serum concentration 27.6 ng/mL, range 13-71.6 ng/mL. Logistic regression was performed adjusting for age, race, body mass index, tobacco use, and time of year. Adverse pregnancy outcomes included preeclampsia, growth restriction, preterm delivery, gestational diabetes, and spontaneous abortion. There was no association between vitamin D deficiency and composite adverse pregnancy outcomes with an adjusted odds ratio of 1.01 (p value 0.738, 95% confidence intervals 0.961-1.057.Vitamin D deficiency did not associate with adverse pregnancy outcomes in this study population. However, the high percentage of affected individuals highlights the prevalence of vitamin D deficiency in young, reproductive-aged women.

  5. Cited1 deficiency suppresses intestinal tumorigenesis.

    Directory of Open Access Journals (Sweden)

    Valérie Méniel

    Full Text Available Conditional deletion of Apc in the murine intestine alters crypt-villus architecture and function. This process is accompanied by multiple changes in gene expression, including upregulation of Cited1, whose role in colorectal carcinogenesis is unknown. Here we explore the relevance of Cited1 to intestinal tumorigenesis. We crossed Cited1 null mice with Apc(Min/+ and AhCre(+Apc(fl/fl mice and determined the impact of Cited1 deficiency on tumour growth/initiation including tumour multiplicity, cell proliferation, apoptosis and the transcriptome. We show that Cited1 is up-regulated in both human and murine tumours, and that constitutive deficiency of Cited1 increases survival in Apc(Min/+ mice from 230.5 to 515 days. However, paradoxically, Cited1 deficiency accentuated nearly all aspects of the immediate phenotype 4 days after conditional deletion of Apc, including an increase in cell death and enhanced perturbation of differentiation, including of the stem cell compartment. Transcriptome analysis revealed multiple pathway changes, including p53, PI3K and Wnt. The activation of Wnt through Cited1 deficiency correlated with increased transcription of β-catenin and increased levels of dephosphorylated β-catenin. Hence, immediately following deletion of Apc, Cited1 normally restrains the Wnt pathway at the level of β-catenin. Thus deficiency of Cited1 leads to hyper-activation of Wnt signaling and an exaggerated Wnt phenotype including elevated cell death. Cited1 deficiency decreases intestinal tumourigenesis in Apc(Min/+ mice and impacts upon a number of oncogenic signaling pathways, including Wnt. This restraint imposed by Cited1 is consistent with a requirement for Cited1 to constrain Wnt activity to a level commensurate with optimal adenoma formation and maintenance, and provides one mechanism for tumour repression in the absence of Cited1.

  6. Circadian behaviour in neuroglobin deficient mice

    DEFF Research Database (Denmark)

    Hundahl, Christian A; Fahrenkrug, Jan; Hay-Schmidt, Anders;

    2012-01-01

    Neuroglobin (Ngb), a neuron-specific oxygen-binding globin with an unknown function, has been proposed to play a key role in neuronal survival. We have previously shown Ngb to be highly expressed in the rat suprachiasmatic nucleus (SCN). The present study addresses the effect of Ngb deficiency......-induced increase in Per1, but not Fos, gene expression was observed in Ngb-deficient mice. Ngb expressing neurons which co-stored Gastrin Releasing Peptide (GRP) and were innervated from the eye and the geniculo-hypothalamic tract expressed FOS after light stimulation. No PER1 expression was observed in Ngb...

  7. Zinc and biotin deficiencies after pancreaticoduodenectomy.

    Science.gov (United States)

    Yazbeck, N; Muwakkit, S; Abboud, M; Saab, R

    2010-01-01

    We report zinc and biotin deficiencies after pancreaticoduodenectomy in a 16 year old female presenting clinically with marked alopecia, total body hair loss, dry skin with scales, and maculopathy with significant vision loss. These micronutrient deficiencies likely occurred due to resection of the duodenum and proximal jejunum, sites of primary absorption of several micronutrients and their protein carriers, including zinc and biotin. Early diagnosis is essential to prevent irreversible sequelae. Adequate supplementation of zinc and biotin as well as dietary advice is needed for clinical improvement.

  8. Vitamin C deficiency in an anticoagulated patient.

    Science.gov (United States)

    Yousef, George M; Goebel, Lynne J

    2013-06-01

    A 64-year-old woman presented with a hemorrhagic perifollicular rash on her legs while taking warfarin. After biopsy, vitamin C deficiency was suggested as the diagnosis, which ascorbic acid assays later confirmed. Clinical resolution of the rash followed supplementation with vitamin C. Patients on a vitamin K limited diet may also be limiting their intake of vitamin C. Physicians should be aware of this possible correlation, and consider checking vitamin C levels in patients with a perifollicular hemorrhagic rash or other signs of vitamin C deficiency while on warfarin.

  9. Rickets-vitamin D deficiency and dependency

    Directory of Open Access Journals (Sweden)

    Manisha Sahay

    2012-01-01

    Full Text Available Rickets is an important problem even in countries with adequate sun exposure. The causes of rickets/osteomalacia are varied and include nutritional deficiency, especially poor dietary intake of vitamin D and calcium. Non-nutritional causes include hypophosphatemic rickets primarily due to renal phosphate losses and rickets due to renal tubular acidosis. In addition, some varieties are due to inherited defects in vitamin D metabolism and are called vitamin D dependent rickets. This chapter highlights rickets/osteomalacia related to vitamin D deficiency or to inherited defects in vitamin D metabolism. Hypophosphatemic rickets and rickets due to renal tubular acidosis are discussed in other sections of the journal.

  10. The molecular basis of aminoacylase 1 deficiency

    DEFF Research Database (Denmark)

    Sommer, Anke; Christensen, Ernst; Schwenger, Susanne

    2011-01-01

    deficiency have not been characterized so far. This has prompted us to approach expression studies of all mutations known to occur in aminoacylase 1 deficient individuals in a human cell line (HEK293), thus providing the authentic human machinery for posttranslational modifications. Mutations were inserted...... by their intramolecular localization and molecular characteristics. In contrast to aminoacylase 1 variants which showed no detectable aminoacylase 1 activity, aminoacylase 1 proteins with the mutations p.Arg378Trp, p.Arg378Gln and p.Arg393His were also detected in Western blot analysis. Investigations of the molecular...

  11. Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

    Science.gov (United States)

    Vockley, Jerry; Andersson, Hans C; Antshel, Kevin M; Braverman, Nancy E; Burton, Barbara K; Frazier, Dianne M; Mitchell, John; Smith, Wendy E; Thompson, Barry H; Berry, Susan A

    2014-02-01

    Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder. Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l. Treatment has predominantly been dietary manipulation, and use of low protein and phenylalanine medical foods is likely to remain a major component of therapy for the immediate future. Pharmacotherapy for phenylalanine

  12. Sleep Transitions in Hypocretin-Deficient Narcolepsy

    DEFF Research Database (Denmark)

    Sorensen, Gertrud Laura; Knudsen, Stine; Jennum, Poul

    2013-01-01

    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....

  13. Vitamin A deficiency in Crohn's disease.

    OpenAIRE

    Main, A N; Mills, P. R.; Russell, R I; Bronte-Stewart, J; Nelson, L. M.; McLelland, A; Shenkin, A

    1983-01-01

    Fifty two patients with Crohn's disease (31 outpatients and 21 inpatients) were investigated for evidence of vitamin A deficiency. Eleven (21%) had low plasma retinol concentrations (less than 1.2 mumol/l (34.3 micrograms %)). Five of these were outpatients and plasma retinol was only slightly reduced (greater than 1.0 mumol/l (28.6%)). All outpatients weighed 80% or more of ideal, and were considered at low risk of developing vitamin A deficiency. In contrast, of the six inpatients with low ...

  14. High Prevalence of Vitamin B12 Deficiency and No Folate Deficiency in Young Children in Nepal.

    Science.gov (United States)

    Ng'eno, Bernadette N; Perrine, Cria G; Whitehead, Ralph D; Subedi, Giri Raj; Mebrahtu, Saba; Dahal, Pradiumna; Jefferds, Maria Elena D

    2017-01-17

    Many children in low- and middle-income countries may have inadequate intake of vitamin B12 and folate; data confirming these inadequacies are limited. We used biochemical, demographic, behavioral and anthropometric data to describe the folate and vitamin B12 concentrations among six- to 23-month-old Nepalese children. Vitamin B12 (serum B12 B12 deficiency. The vitamin B12 geometric mean was 186 pmol/L; 30.2% of children were deficient. The mean RBC folate concentration was 13,612 nmol/L; there was no deficiency. Factors associated with vitamin B12 deficiency included: (a) age six to 11 months (adjusted odds ratio (aOR) 1.51; 95% confidence interval (CI): 1.18, 1.92) or 12-17 months (aOR 1.38; 95% CI: 1.10, 1.72) compared to 18-23 months; (b) being stunted (aOR 1.24; 95% CI: 1.03, 1.50) compared to not being stunted; (c) and not eating animal-source foods (aOR 1.85; 95% CI: 1.42, 2.41) compared to eating animal-source foods the previous day. There was a high prevalence of vitamin B12 deficiency, but no folate deficiency. Improving early feeding practices, including the consumption of rich sources of vitamin B12, such as animal-source foods and fortified foods, may help decrease deficiency.

  15. Risk factors associated with anemia, iron deficiency and iron deficiency anemia in rural Nepali pregnant women.

    Science.gov (United States)

    Makhoul, Zeina; Taren, Douglas; Duncan, Burris; Pandey, Pooja; Thomson, Cynthia; Winzerling, Joy; Muramoto, Myra; Shrestha, Ram

    2012-05-01

    We conducted a cross sectional study to investigate risk factors associated with severe anemia [hemoglobin (Hb) iron status among Nepali pregnant women. Socio-demographic, anthropometric, health and dietary data were collected from 3,531 women living in the southeastern plains of Nepal. Stool samples were analyzed for intestinal helminthes. Dark adaptation was assessed using the Night Vision Threshold Test (NVTT). Hb levels were measured in all subjects to detect anemia and the soluble transferrin receptor (sTfR) was measured among a subsample of 479 women. The iron status categories were: 1) normal (Hb> or = 11.0 g/dl and sTfR anemia without iron deficiency (Hbiron deficiency without anemia (Hb > or = 11.0 g/dl and sTfR>8.5 mg/l); and 4) iron deficiency anemia (IDA): (Hb8.5 mg/l). Factors associated with severe anemia and poor iron status were determined using logistic regression. Hookworm infection increased the risk for developing severe anemia [adjusted odds ratio (AOR): 4.26; 95% CI 1.67-10.89; piron deficiency with and without anemia. Intake of iron supplements as tablets and/or tonic was protective against severe anemia, anemia without iron deficiency and IDA. Dietary heme iron was significantly associated with iron deficiency without anemia (RRR: 0.1; 95% CI 0.02-0.47; panemia and associated nutrient deficiencies.

  16. [A neonate with anaemia of prematurity: zinc protoporphyrin identifies iron deficiency anaemia without iron deficiency].

    Science.gov (United States)

    van der Feen, Diederik E; van Hillegersberg, Jacqueline L A M; Schippers, Johannes A

    2015-01-01

    Anaemia is a common problem in premature infants and is generally easy to treat with iron supplementation. If the anaemia persists despite appropriate correction of deficiencies, more extensive evaluation is required. We describe a case of a premature male infant with a production-deficient anaemia without metabolic deficiencies, eventually identified as anaemia of prematurity. This type of anaemia is commonly diagnosed but its highly variable and complex aetiology and phenotype are often poorly understood. A probable explanation for the anaemia of prematurity in this case was a transient iron incorporation defect, identifiable by high levels of zinc protoporphyrin.

  17. Circadian behaviour in neuroglobin deficient mice.

    Directory of Open Access Journals (Sweden)

    Christian A Hundahl

    Full Text Available Neuroglobin (Ngb, a neuron-specific oxygen-binding globin with an unknown function, has been proposed to play a key role in neuronal survival. We have previously shown Ngb to be highly expressed in the rat suprachiasmatic nucleus (SCN. The present study addresses the effect of Ngb deficiency on circadian behavior. Ngb-deficient and wild-type (wt mice were placed in running wheels and their activity rhythms, endogenous period and response to light stimuli were investigated. The effect of Ngb deficiency on the expression of Period1 (Per1 and the immediate early gene Fos was determined after light stimulation at night and the neurochemical phenotype of Ngb expressing neurons in wt mice was characterized. Loss of Ngb function had no effect on overall circadian entrainment, but resulted in a significantly larger phase delay of circadian rhythm upon light stimulation at early night. A light-induced increase in Per1, but not Fos, gene expression was observed in Ngb-deficient mice. Ngb expressing neurons which co-stored Gastrin Releasing Peptide (GRP and were innervated from the eye and the geniculo-hypothalamic tract expressed FOS after light stimulation. No PER1 expression was observed in Ngb-positive neurons. The present study demonstrates for the first time that the genetic elimination of Ngb does not affect core clock function but evokes an increased behavioural response to light concomitant with increased Per1 gene expression in the SCN at early night.

  18. Circadian behaviour in neuroglobin deficient mice.

    Science.gov (United States)

    Hundahl, Christian A; Fahrenkrug, Jan; Hay-Schmidt, Anders; Georg, Birgitte; Faltoft, Birgitte; Hannibal, Jens

    2012-01-01

    Neuroglobin (Ngb), a neuron-specific oxygen-binding globin with an unknown function, has been proposed to play a key role in neuronal survival. We have previously shown Ngb to be highly expressed in the rat suprachiasmatic nucleus (SCN). The present study addresses the effect of Ngb deficiency on circadian behavior. Ngb-deficient and wild-type (wt) mice were placed in running wheels and their activity rhythms, endogenous period and response to light stimuli were investigated. The effect of Ngb deficiency on the expression of Period1 (Per1) and the immediate early gene Fos was determined after light stimulation at night and the neurochemical phenotype of Ngb expressing neurons in wt mice was characterized. Loss of Ngb function had no effect on overall circadian entrainment, but resulted in a significantly larger phase delay of circadian rhythm upon light stimulation at early night. A light-induced increase in Per1, but not Fos, gene expression was observed in Ngb-deficient mice. Ngb expressing neurons which co-stored Gastrin Releasing Peptide (GRP) and were innervated from the eye and the geniculo-hypothalamic tract expressed FOS after light stimulation. No PER1 expression was observed in Ngb-positive neurons. The present study demonstrates for the first time that the genetic elimination of Ngb does not affect core clock function but evokes an increased behavioural response to light concomitant with increased Per1 gene expression in the SCN at early night.

  19. Primary Immune Deficiency Treatment Consortium (PIDTC) report

    NARCIS (Netherlands)

    L.M. Griffith (Linda); M. Cowan (Morton); L.D. Notarangelo (Luigi Daniele); R. Kohn (Robert); J. Puck (Jennifer); S.-Y. Pai (Sung-Yun); B. Ballard (Barbara); S.C. Bauer (Sarah); J. Bleesing (Jack); M. Boyle (Marcia); R.W. Brower (Ronald); R.H. Buckley (Rebecca); M. van der Burg (Mirjam); L.M. Burroughs (Lauri); F. Candotti (Fabio); A. Cant (Andrew); T. Chatila (Talal); C. Cunningham-Rundles (Charlotte); M.C. Dinauer (Mary); J. Dvorak (Jennie); A. Filipovich (Alexandra); L.A. Fleisher (Lee); H.B. Gaspar (Bobby); T. Gungor (Tayfun); E. Haddad (Elie); E. Hovermale (Emily); F. Huang (Faith); A. Hurley (Alan); M. Hurley (Mary); S.K. Iyengar (Sudha); E.M. Kang (Elizabeth); B.R. Logan (Brent); J.R. Long-Boyle (Janel); H. Malech (Harry); S.A. McGhee (Sean); S. Modell (Sieglinde); S. Modell (Sieglinde); H.D. Ochs (Hans); R.J. O'Reilly (Richard); R. Parkman (Robertson); D. Rawlings (D.); J.M. Routes (John); P. Shearer (P.); T.N. Small (Trudy); H. Smith (H.); K.E. Sullivan (Kathleen); P. Szabolcs (Paul); A.J. Thrasher (Adrian); D. Torgerson; P. Veys (Paul); K. Weinberg (Kenneth); J.C. Zuniga-Pflucker (Juan Carlos)

    2014-01-01

    textabstractThe Primary Immune Deficiency Treatment Consortium (PIDTC) is a network of 33 centers in North America that study the treatment of rare and severe primary immunodeficiency diseases. Current protocols address the natural history of patients treated for severe combined immunodeficiency (SC

  20. DEFICIENT CUBIC SPLINES WITH AVERAGE SLOPE MATCHING

    Institute of Scientific and Technical Information of China (English)

    V. B. Das; A. Kumar

    2005-01-01

    We obtain a deficient cubic spline function which matches the functions with certain area matching over a greater mesh intervals, and also provides a greater flexibility in replacing area matching as interpolation. We also study their convergence properties to the interpolating functions.

  1. Treatment of Vitamin D deficient states

    Science.gov (United States)

    UpToDate performs a continuous review of over 330 journals and other resources to synthesize and provide the latest medical information for clinicians. Updates are added as important new information is published. This document reviews the prevalence and treatment of vitamin D deficient states. Sever...

  2. Iron and Folate-Deficiency Anaemias.

    Science.gov (United States)

    Hercberg, Serge

    1990-01-01

    Nutritional anemia is believed to be the most widespread nutritional disorder in the world. While it generally affects developing countries, developed countries are also affected to an extent sufficient to justify the implementation of preventive measures at a national level. This report focuses on iron and folate deficiencies, which are by far…

  3. Color Vision Deficiencies in Children. United States.

    Science.gov (United States)

    National Center for Health Statistics (DHEW/PHS), Hyattsville, MD.

    Presented are prevalence data on color vision deficiencies (color blindness) in noninstitutionalized children, aged 6-11, in the United States, as estimated from the Health Examination Survey findings on a representative sample of over 7,400 children. Described are the two color vision tests used in the survey, the Ishihara Test for Color…

  4. Cobalamin Deficiency: Clinical Picture and Radiological Findings

    Directory of Open Access Journals (Sweden)

    Chiara Briani

    2013-11-01

    Full Text Available Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD, is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established.

  5. Genetics Home Reference: factor XI deficiency

    Science.gov (United States)

    ... common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and ... nasal cavities ) or the urinary tract . If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can ...

  6. Vitamin D deficiency among healthy Egyptian females.

    Science.gov (United States)

    Botros, Raif M; Sabry, Inas M; Abdelbaky, Rania S; Eid, Yara M; Nasr, Merihan S; Hendawy, Laila M

    2015-01-01

    Vitamin D deficiency is becoming endemic in many parts of the world. To study vitamin D status in Egyptian females of different age groups. A cross-sectional study was conducted on 404 females, who were categorized into group 1 (51 nursing females); group 2 (50 pregnant females); group 3 (208 females of childbearing age); group 4 (38 elderly females); and group 5 (57 geriatric females). Females completed a questionnaire regarding dietary calcium and vitamin D intake, sun exposure, and clothing habits, and performed laboratory tests including calcium, PO4, alkaline phosphatase, intact PTH, and 25-OH vitamin D levels. Median and IQR of vitamin D levels across groups 1, 2, 3 and 5 were in the deficient range, being lowest in groups 3, 5, and 1, respectively. Vitamin D deficiency was found in 72.6% of the nursing group, 54% of the pregnant group, 72% of the childbearing age group, 39.5% of the elderly group, and 77.2% of the geriatric group. Vitamin D was significantly higher in non-veiled females [23ng/dl] as compared to veiled females [16.7ng/dl]. Vitamin D levels with poor, fair, and good sun exposure were 14.1, 14, and 37ng/dl, respectively. These results show a high prevalence of vitamin D deficiency among healthy Egyptian females. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  7. Genetics Home Reference: leptin receptor deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics Disease InfoSearch: Leptin receptor deficiency MalaCards: obesity, morbid, due to leptin ...

  8. Periodic fever and mevalonate kinase deficiency

    NARCIS (Netherlands)

    Frenkel, Joost

    2002-01-01

    Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non-sterol isoprenoids. The clinical spectrum inclu

  9. Vitamin A deficiency Ann Burgess MPH

    African Journals Online (AJOL)

    Angel_D

    Mother and child undernutrition – Vitamin A deficiency. Ann Burgess ... (due to impaired transport of iron), poor growth and, in severe cases, xerophthalmia ... Vitamin A occurs mainly as 'retinol' in animal foods and as 'Я-carotene' in plant foods c. ... Vitamin A supplements are usually given orally as high dose capsules.

  10. DEFICIENT FUNCTIONS OF RANDOM DIRICHLET SERIES

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    In this article, the uniqueness theorem of Dirichlet series is proved. Then the random Dirichlet series in the right half plane is studied, and the result that the random Dirichlet series of finite order has almost surely(a.s.) no deficient functions is proved.

  11. Iron-Deficiency Anemia and Stroke

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-11-01

    Full Text Available The prevalence of iron-deficiency anemia (IDA in young children at the time of stroke and in age-matched healthy controls was compared in a case-control study conducted at the Hospital for Sick Children, Toronto, Canada.

  12. Genetics Home Reference: color vision deficiency

    Science.gov (United States)

    ... SERIES TRITANOPIA Sources for This Page Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. Review. Citation on PubMed Deeb SS. The molecular basis of variation in human color vision. Clin Genet. 2005 May;67(5): ...

  13. Morbidity and GH deficiency: a nationwide study

    DEFF Research Database (Denmark)

    Stochholm, K.; Laursen, T.; Green, A.;

    2008-01-01

    Objective: To estimate morbidity in Denmark in all patients with GH deficiency (GHD). Design: Morbidity was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in the GHD patients were studied and additional morbidity noted. Diagnoses and dates of admissions were...

  14. 18 CFR 5.20 - Deficient applications.

    Science.gov (United States)

    2010-04-01

    ... 18 Conservation of Power and Water Resources 1 2010-04-01 2010-04-01 false Deficient applications. 5.20 Section 5.20 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY COMMISSION... competing application, the resubmittal is timely. The date the rejected application is resubmitted will...

  15. Iron and Folate-Deficiency Anaemias.

    Science.gov (United States)

    Hercberg, Serge

    1990-01-01

    Nutritional anemia is believed to be the most widespread nutritional disorder in the world. While it generally affects developing countries, developed countries are also affected to an extent sufficient to justify the implementation of preventive measures at a national level. This report focuses on iron and folate deficiencies, which are by far…

  16. Vitamin D deficiency and heart disease

    NARCIS (Netherlands)

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

    2011-01-01

    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

  17. Iron Deficiency in Adolescents and Young Adults.

    Science.gov (United States)

    Risser, William L.; Risser, Jan M. H.

    1990-01-01

    Reviews the prevalence, natural history, causes, impact on performance, diagnosis, and treatment of iron deficiency in adolescent and young adult athletes. All athletes should be screened and treated. The best diagnosis involves determining serum ferritin and hemoglobin levels. Treatment requires therapeutic doses of oral ferrous iron for several…

  18. Genetics Home Reference: triosephosphate isomerase deficiency

    Science.gov (United States)

    ... Oláh J, Ovádi J. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta. 2009 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Iron deficiency in the young athlete.

    Science.gov (United States)

    Rowland, T W

    1990-10-01

    Although overt anemia is uncommon, depletion of body iron stores is common among adolescent female athletes. Poor dietary iron intake, menstruation, and increased iron losses associated with physical training all appear to be important factors. Whether nonanemic iron deficiency can impair exercise performance is uncertain. Nonetheless, athletes with low ferritin levels are at risk for impaired erythropoiesis and should receive therapeutic iron supplementation.

  20. Colour Vision Deficiency and Physics Teaching

    Science.gov (United States)

    Maule, Louise; Featonby, David

    2016-01-01

    1 in 12 males suffer from some form of colour vision deficiency (CVD) which in the present colour dominated world of education presentation can be a severe disadvantage. Although aware of "colourblindness" most teachers make little or no adjustment for these pupils for whom tasks may be more difficult. This article examines colour vision…

  1. [The frequency and development of tissue iron deficiency in 6 iron deficiency anemia patients with plummer-vinson syndrome].

    Science.gov (United States)

    Uchida, T; Matsuno, M; Ide, M; Kawachi, Y

    1998-11-01

    The physical signs of tissue iron deficiency include smooth and red tongue, angular stomatitis, koilonychia, and pica. The incidence of these conditions is unknown in Japan. We evaluated the frequency and development of tissue iron deficiency in 353 patients with iron deficiency anemia. The frequency of tissue iron deficiency was 6.8%; papillary atrophy of the tongue, 5.4%; abnormal nails, 5.4%; angular stomatitis, 1.1%; Plummer-Vinson syndrome, 1.7%; and pica, 0.06%. These findings were compared with the date collected by Wintrobe and Beveridge. The development and incidence of tissue iron deficiency correlated significantly with the severity of iron deficiency anemia.

  2. Prevalence of iron deficiency anemia and iron deficiency in a pediatric population with inflammatory bowel disease

    OpenAIRE

    Carvalho, FS; de Medeiros, IA; Antunes, H.

    2017-01-01

    Iron deficiency is the most common cause of anemia in children with inflammatory bowel disease, although the real prevalence is unknown. Intravenous iron is suggested as the first line treatment. This study aims to determine the prevalence of iron deficiency anemia in children with inflammatory bowel disease followed in a Pediatric Gastroenterology Unit of a tertiary center and to evaluate this unit's experience with intravenous iron. info:eu-repo/semantics/publishedVersion

  3. High Prevalence of Vitamin B12 Deficiency and No Folate Deficiency in Young Children in Nepal

    Directory of Open Access Journals (Sweden)

    Bernadette N. Ng’eno

    2017-01-01

    Full Text Available Many children in low- and middle-income countries may have inadequate intake of vitamin B12 and folate; data confirming these inadequacies are limited. We used biochemical, demographic, behavioral and anthropometric data to describe the folate and vitamin B12 concentrations among six- to 23-month-old Nepalese children. Vitamin B12 (serum B12 < 150 pmol/L and folate deficiencies (red blood cell (RBC folate < 226.5 nmol/L were assessed. We used logistic regression to identify predictors of vitamin B12 deficiency. The vitamin B12 geometric mean was 186 pmol/L; 30.2% of children were deficient. The mean RBC folate concentration was 13,612 nmol/L; there was no deficiency. Factors associated with vitamin B12 deficiency included: (a age six to 11 months (adjusted odds ratio (aOR 1.51; 95% confidence interval (CI: 1.18, 1.92 or 12–17 months (aOR 1.38; 95% CI: 1.10, 1.72 compared to 18–23 months; (b being stunted (aOR 1.24; 95% CI: 1.03, 1.50 compared to not being stunted; (c and not eating animal-source foods (aOR 1.85; 95% CI: 1.42, 2.41 compared to eating animal-source foods the previous day. There was a high prevalence of vitamin B12 deficiency, but no folate deficiency. Improving early feeding practices, including the consumption of rich sources of vitamin B12, such as animal-source foods and fortified foods, may help decrease deficiency.

  4. Vitamin D deficiency in postmenopausal women with pelvic floor disorders

    Directory of Open Access Journals (Sweden)

    Preethi Raja Navaneethan

    2015-01-01

    Conclusion: Findings suggest association of vitamin D deficiency and PFD in postmenopausal women. In addition, postmenopausal women have a high prevalence of vitamin D deficiency indicating a need to evaluate vitamin D levels in these women.

  5. Allergic disease as an association of steroid sulphatase deficiency.

    Science.gov (United States)

    Sakura, N; Nishimura, S; Matsumoto, T; Ohsaki, M; Ogata, T

    1997-11-01

    Ten of 31 patients with steroid sulphatase (STS) deficiency were found to have an allergic disease (bronchial asthma, allergic rhinitis, or atopic dermatitis). STS deficiency may predispose patients to allergic disease.

  6. Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

    Directory of Open Access Journals (Sweden)

    Perla Vicari

    2010-06-01

    Full Text Available A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro. Neste artigo são brevemente descritas outras condições que podem cursar com anemia microcítica, tais como: talassemias, anemia de doença crônica, anemia sideroblástica e envenenamento por chumbo, patologias estas que devem ser afastadas durante investigação de anemia ferropriva.Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and other conditions. This article briefly describes other conditions that may present with microcytic anemia such as thalassemia, anemia of chronic diseases, sideroblastic anemia and lead intoxication. These diseases should be considered during the investigation of iron deficiency anemia.

  7. Iron deficiency in sports - definition, influence on performance and therapy

    OpenAIRE

    Clénin, German; Cordes, Mareike; Huber, Andreas; Schumacher, Yorck Olaf; Noack, Patrick; Scales, John; Kriemler, Susi

    2015-01-01

    Iron deficiency is frequent among athletes. All types of iron deficiency may affect physical performance and should be treated. The main mechanisms by which sport leads to iron deficiency are increased iron demand, elevated iron loss and blockage of iron absorption due to hepcidin bursts. As a baseline set of blood tests, haemoglobin, haematocrit, mean cellular volume, mean cellular haemoglobin and serum ferritin levels help monitor iron deficiency. In healthy male and female athletes >15 yea...

  8. Secondary Carnitine Deficiency in Dialysis Patients: Shall We Supplement It?

    OpenAIRE

    Wanders, Ronald J. A.; Tim Ulinski; Stephanie E. Reuter; Asha Moudgil

    2016-01-01

    Carnitine, essential for fatty acid β-oxidation, is obtained from diet and through de novo biosynthesis. The organic cation/carnitine transporter 2 (OCTN2) facilitates carnitine cellular transport and kidney resorption. Carnitine depletion occurs in OCTN2-deficient patients, with serious clinical complications including cardiomyopathy, myopathy, and hypoketotic hypoglycaemia. Neonatal screening can detect OCTN2 deficiency. OCTN2-deficiency is also known as primary carnitine deficiency. Carnit...

  9. Lower limb deficient children in the Netherlands: epidemiological aspects

    OpenAIRE

    Rijnders, LJM; Boonstra, AM; Groothoff, JW; Cornel, MC; Eisma, WH

    2000-01-01

    information on the characteristics of children with limb deficiencies and amputations in the Netherlands is largely lacking. The present study aimed to collect data about the prevalence of congenital deficiencies, the ratio of congenital to acquired limb deficiencies, types of lower leg deficiency or amputation and male/female ratios. Data were obtained from a regional birth defects registry for the northern parr. of the Netherlands (EUROCAT-NNL) and from a national survey, inclusion criteria...

  10. Vitamin D deficiency in hemodialysis patients

    Directory of Open Access Journals (Sweden)

    Beena Bansal

    2012-01-01

    Full Text Available Background : Vitamin D [(25(OHD] deficiency and insufficiency is common in patients with chronic kidney disease (CKD. 25(OHD has been found to have beneficial effects on bone, cardiovascular and immune functions. There are little data about vitamin D levels in Indian patients on dialysis. This study was undertaken to determine the vitamin D status of Indian CKD patients on hemodialysis. Materials and Methods : We included 45 patients on maintenance hemodialysis coming to Medanta, Medicity, Gurgaon. 25(OHD levels were measured with radioimmunoassay (Diasorin method and parathyroid hormone (PTH was measured using electrochemiluminiscence immunoassay (ECLIA. Results : The mean age of patients was 55 ± 13 years. 32/45 (71% were males. 23/45 (51% were diabetics. The median duration of hemodialysis was 5.5 months (range 1-74 months. 33/45 (74% patients were on thrice weekly hemodialysis. The mean level of vitamin D was 10.14 ± 8.7 ng/ml. Majority of the patients [43/45 (95.5%] were either vitamin D deficient or had insufficient levels. 40/45 (88.9% were vitamin D deficient (levels <20 ng/ml; of these, 29/40 (64.4% had severe vitamin D deficiency (levels <10 ng/ml and 3/45 (6.7% had insufficient levels (20-30 ng/ml of vitamin D. Only 2/45 (4.4% patients had normal levels of vitamin D. 23/45 (51% of patients were receiving calcitriol. The mean levels of serum calcium, phosphorus, alkaline phosphatase, and albumin were 8.8 ± 0.64 mg/dl, 5.0 ± 0.7 mg/dl, 126 ± 10.3 IU/l and 3.6 ± 0.62 g/dl, respectively. PTH levels ranged from 37 to 1066 pg/ml, and the median was 195.8 pg/ml. There was a weak correlation between 25(OHD levels and weight, sex, hemoglobin, albumin, alkaline phosphatase, and presence of diabetes. There was, however, no correlation with duration of dialysis or PTH levels. Conclusion : Vitamin D deficiency and insufficiency are universal in our hemodialysis patients, with severe vitamin D deficiency in two-third of patients.

  11. Nuclear magnetic resonance metabolomics of iron deficiency in soybean leaves

    Science.gov (United States)

    Iron (Fe) deficiency is an important agricultural concern leading to lower yields and crop quality. A better understanding of the condition, at the metabolome level, could contribute to the design of strategies to ameliorate Fe deficiency problems. Fe-sufficient and Fe-deficient soybean leaf extract...

  12. Lead Toxicity and Iron Deficiency in Utah Migrant Children.

    Science.gov (United States)

    Ratcliffe, Stephen D.; And Others

    1989-01-01

    Determines the frequency of presumptive iron deficiency and lead toxicity in 198 Utah migrant children, aged 9-72 months. There were no confirmed cases of lead toxicity. Thirteen percent of all children tested, and 30 percent of those aged 9-23 months, were iron deficient. Hematocrit determination is an insensitive screen for iron deficiency.…

  13. Solemnity: A Clinical Risk Index for Iron Deficient Infants.

    Science.gov (United States)

    Honig, Alice Sterling; Oski, Frank A.

    1984-01-01

    Studies four groups of infants with iron deficiency but without anemia in an attempt to discover behavioral signs that can be used to index high-risk probability for iron deficiency. Solemnity in well-attached infants is suggested as a clinical sign to indicate the need for biochemical screening for iron deficiency. (AS)

  14. Solemnity: A Clinical Risk Index for Iron Deficient Infants.

    Science.gov (United States)

    Honig, Alice Sterling; Oski, Frank A.

    1984-01-01

    Studies four groups of infants with iron deficiency but without anemia in an attempt to discover behavioral signs that can be used to index high-risk probability for iron deficiency. Solemnity in well-attached infants is suggested as a clinical sign to indicate the need for biochemical screening for iron deficiency. (AS)

  15. 41 CFR 101-26.803-2 - Reporting quality deficiencies.

    Science.gov (United States)

    2010-07-01

    ... SOURCES AND PROGRAM 26.8-Discrepancies or Deficiencies in GSA or DOD Shipments, Material, or Billings... Form (SF) 368, Quality Deficiency Report, or a message in the format of the Standard Form 368, is used to report quality deficiencies. (c) Standard Form 368 (including SF's 368 submitted in...

  16. To study prevalence of incipient iron deficiency in primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Tanveer Hassan Banday

    2014-04-01

    Conclusion: Iron deficiency was present in a significant portion of patients with primary hypothyroidism. It also concluded that frequency of iron deficiency (with or without anemia was higher than iron deficiency anemia. [Int J Res Med Sci 2014; 2(2.000: 472-475

  17. Lead Toxicity and Iron Deficiency in Utah Migrant Children.

    Science.gov (United States)

    Ratcliffe, Stephen D.; And Others

    1989-01-01

    Determines the frequency of presumptive iron deficiency and lead toxicity in 198 Utah migrant children, aged 9-72 months. There were no confirmed cases of lead toxicity. Thirteen percent of all children tested, and 30 percent of those aged 9-23 months, were iron deficient. Hematocrit determination is an insensitive screen for iron deficiency.…

  18. Obsessive compulsive disorder as early manifestation of b12 deficiency

    Directory of Open Access Journals (Sweden)

    Maryam Valizadeh

    2011-01-01

    Full Text Available B12 acts as a cofactor in synthesis of neurotransmitters such as serotonin and dopamine, thus B12 deficiency affects mood, emotions and sleeping and can lead to psychiatric disorders. Psychiatric manifestations of B12 deficiency are varied. They seldom precede anemia. We want to present a case of B12 deficiency which was presented with obsessive compulsive disorder.

  19. 26 CFR 1.963-6 - Deficiency distribution.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 10 2010-04-01 2010-04-01 false Deficiency distribution. 1.963-6 Section 1.963... (CONTINUED) INCOME TAXES Controlled Foreign Corporations § 1.963-6 Deficiency distribution. (a) In general. Section 963(e)(2) and this section provide a method under which, by virtue of a deficiency distribution,...

  20. Prevalence of Iron Deficiency and Iron Deficiency Anemia in High-School Girl Students of Yazd

    Directory of Open Access Journals (Sweden)

    M Noori Shadkam

    2009-07-01

    Full Text Available Introduction: It is generally assumed that 50% of the cases of anemia are due to iron deficiency. The most severe consequence of iron depletion is iron deficiency anemia (IDA, and it is still considered the most common nutrition deficiency worldwide. The main risk factors for IDA include: inadequate iron intake, impaired absorption or transport, physiologic losses associated with chronological or reproductive age, or acute or chronic blood loss, parasite infections such as hookworms, acute and chronic infections, including malaria, cancer, tuberculosis, HIV and other micronutrient deficiencies, including vitamins A and B12, folate, riboflavin, and copper deficiency. Methods: This work as a cross-sectional study was done in 2007-2008 in Yazd. Two hundred girls who participated in the study were selected randomly from eight girl high schools. Five ml venous blood was collected for determination of serum ferritin and cell blood count (CBC. Serum ferritin was determined by using ECLIA method and CBC by cell counter SYSMEX KX21N. Iron deficiency was defined as having serum ferritin values below 12 μ/l. Anemia was defined as having Hemoglobin levels below12 g/dl. Iron-deficiency anemia was considered to be the combination of both. Results: The3 mean ageyears and body mass index (kg/m2 were 15.19±0.7years and 21.5±4.2, respectively. Distribution in the 14, 15 and 16 years and more age groups were 13, 58.5 and 28.5 percent, respectively. Mean of Hemoglobin(g/dl, Hematocrit(%, MCV (fl, MCH (pg, MCHC (g/dl and ferritin(μ/l were 12.8±0.9, 38.9±3.0, 80.7±4.3, 26.6±1.8, 33.2±3.6 and 23±18.2, respectively. Of the total, 13.5% were anemic, 68% of which had Iron Deficiency Anemia (9.3% of the total. Iron deficiency was present in 34.7% of the population under study. Conclusion: According to world health organization criteria, anemia is a mild public health problem in this region, but iron deficiency is a significant problem and suitable measures for

  1. Night blindness due to vitamin A deficiency associated with copper deficiency myelopathy secondary to bowel bypass surgery.

    Science.gov (United States)

    AlHassany, Ali Abdul Jabbar

    2014-04-29

    We present an interesting case of combined vitamin A and copper deficiency after a history of gastric bypass surgery where symptoms improved after parenteral copper and vitamin A treatment. Gastric bypass surgery as a cause of fat soluble vitamin deficiency is generally under-reported. Copper deficiency has been reported after gastric bypass surgery. Vitamin A deficiency after gastric bypass surgery has also been reported in the literature, but the reported cases again fall below the actual figures. B12 and folate deficiencies can produce a type of myelopathy similar to that produced by copper deficiency, and differentiation on the basis of laboratory tests, neurophysiology and improvement of symptoms after replacement therapy might be the hallmark of diagnosis. Combinations of vitamin deficiencies were previously reported, but no cases of combined vitamin A and copper deficiency could be found in the literature.

  2. Night blindness due to vitamin A deficiency associated with copper deficiency myelopathy secondary to bowel bypass surgery

    OpenAIRE

    Abdul Jabbar AlHassany, Ali

    2014-01-01

    We present an interesting case of combined vitamin A and copper deficiency after a history of gastric bypass surgery where symptoms improved after parenteral copper and vitamin A treatment. Gastric bypass surgery as a cause of fat soluble vitamin deficiency is generally under-reported. Copper deficiency has been reported after gastric bypass surgery. Vitamin A deficiency after gastric bypass surgery has also been reported in the literature, but the reported cases again fall below the actual f...

  3. Testosterone Deficiency, Cardiac Health, and Older Men

    Directory of Open Access Journals (Sweden)

    G. Hackett

    2014-01-01

    Full Text Available Low levels of testosterone are manifested by erectile dysfunction, reduced sexual desire, and loss of morning erections with increasing numbers of men are being diagnosed and require treatment. The prevalence rates of testosterone deficiency vary according to different studies but may be as high as 40% in populations of patients with type 2 diabetes. There is increasing evidence that testosterone deficiency is associated with increased cardiovascular and all-cause mortality. Screening for low testosterone is recommended in a number of high risk groups including those with type 2 diabetes and metabolic syndrome. There are recent data to suggest that testosterone replacement therapy may reduce cardiovascular mortality as well as improving multiple surrogate markers for cardiovascular events. Specific clinical trials of testosterone replacement therapy are needed in selected populations but in the meantime we must treat patients based on the best current evidence.

  4. Atypical Manifestations in Glut1 Deficiency Syndrome.

    Science.gov (United States)

    De Giorgis, V; Varesio, C; Baldassari, C; Piazza, E; Olivotto, S; Macasaet, J; Balottin, U; Veggiotti, P

    2016-08-01

    Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis. © The Author(s) 2016.

  5. Folate deficiency and neurological disorders in adults.

    Science.gov (United States)

    Botez, M I

    1976-01-01

    The restless legs syndrome could represent a folate responsive disorder in both patients with acquired-folate deficiency and those with familial symptomatology. Patients with acquired folate-deficiency could be divided into two subgroups. (i) those with minor neurological signs (restless legs syndrome, vibration sense impairment and tactile hypoesthesia in both legs with diminished ankle jerks and a prolonged or assymetrical Achilles-reflex time) and (ii) those with major neurological signs (subacute combined degeneration with or without neuropathies). In some of these patients the classical triad of the malabsorption syndrome is replaced by another triad, constipation, abnormal jejunal biopsy and abnormal d-xylose absorption. A low folic serum acid level could induce minor neuropsychiatric symptoms while an additional low CSF folate could induce major neurological symptoms in spite of the presence of a normal erythrocyte folate level and in the absence of frank anemia. Possible further studies are described.

  6. Compressed Sensing with Rank Deficient Dictionaries

    DEFF Research Database (Denmark)

    Hansen, Thomas Lundgaard; Johansen, Daniel Højrup; Jørgensen, Peter Bjørn

    2012-01-01

    In compressed sensing it is generally assumed that the dictionary matrix constitutes a (possibly overcomplete) basis of the signal space. In this paper we consider dictionaries that do not span the signal space, i.e. rank deficient dictionaries. We show that in this case the signal-to-noise ratio...... (SNR) in the compressed samples can be increased by selecting the rows of the measurement matrix from the column space of the dictionary. As an example application of compressed sensing with a rank deficient dictionary, we present a case study of compressed sensing applied to the Coarse Acquisition (C....../A) step in a GPS receiver. Simulations show that for this application the proposed choice of measurement matrix yields an increase in SNR performance of up to 5 − 10 dB, compared to the conventional choice of a fully random measurement matrix. Furthermore, the compressed sensing based C/A step is compared...

  7. Nutritional Deficiency in Patients with Heart Failure

    Directory of Open Access Journals (Sweden)

    Edoardo Sciatti

    2016-07-01

    Full Text Available Heart failure (HF is the main cause of mortality and morbidity in Western countries. Although evidence-based treatments have substantially improved outcomes, prognosis remains poor with high costs for health care systems. In patients with HF, poor dietary behaviors are associated with unsatisfactory quality of life and adverse outcome. The HF guidelines have not recommended a specific nutritional strategy. Despite the role of micronutrient deficiency, it has been extensively studied, and data about the efficacy of supplementation therapy in HF are not supported by large randomized trials and there is limited evidence regarding the outcomes. The aim of the present review is to analyze the state-of-the-art of nutritional deficiencies in HF, focusing on the physiological role and the prognostic impact of micronutrient supplementation.

  8. Vitamin K deficiency and hemorrhage in infancy.

    Science.gov (United States)

    Greer, F R

    1995-09-01

    Hemorrhage in the infant from vitamin K deficiency is still a concern in pediatrics. Vitamin K given intramuscularly will largely prevent hemorrhagic disease in the newborn, even in infants who are exclusively breast-fed and are thus at the greatest risk for bleeding. The vitamin K content of human milk is very low compared with standard infant formulas. Results with oral vitamin K prophylaxis, currently used in some countries following the association found in a single report between childhood cancer and intramuscular vitamin K, are far more controversial. Any role of vitamin K in the prevention of IVH in premature infants has not been sufficiently demonstrated. Ongoing developments in this field will lead to improved methods of detecting early vitamin K deficiency and perhaps suitable alternatives to intramuscular vitamin K prophylaxis in the newborn.

  9. Isolated adrenocorticotropin deficiency presenting as primary infertility.

    Science.gov (United States)

    Atkin, S L; Masson, E A; White, M C

    1995-06-01

    A 31 year old female presented with primary infertility and gave a two year history of amenorrhea without symptoms or signs of endocrine dysfunction. Examination was normal and investigation showed low oestradiol and progesterone levels with decreased LH pulsatility. The cortisol responses were impaired following hypoglycaemic stress and a short synacthen test, but the cortisol response to a prolonged synacthen test was normal. An inadequate ACTH response to CRF testing confirmed the diagnosis of isolated ACTH deficiency. Hydrocortisone therapy was followed by an ovulatory menstrual cycle. Amenorrhea again ensued following the reduction of the steroid dose and normal menses resumed on normal steroid replacement therapy. Six hourly gonadotrophin pulsatility showed a significant increase in both pulse amplitude and mean LH and FSH levels following steroid treatment. Isolated ACTH deficiency is a rare but treatable cause of hypogonadism and infertility, and this case gives further insight on the role of cortisol on the hypothalamo-pituitary gonadal axis.

  10. Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum

    Directory of Open Access Journals (Sweden)

    Andrew S. Lane

    2015-01-01

    Full Text Available A 21-year-old primigravida had a pregnancy complicated by hyperemesis gravidarum (HG beginning at 7-week gestation. Despite medical therapy, she lost 18% of her prepregnancy weight. Early ultrasound at 14 weeks demonstrated a flattened facial profile with nasal hypoplasia (Binder phenotype consistent with vitamin K deficiency from HG. She had a percutaneous endoscopic gastrojejunostomy tube placed for enteral feeding at 15-week gestation. At repeated anatomy ultrasound at 21-week gestation, delivery, and postnatal pediatric genetics exam, nasal hypoplasia was consistent with vitamin K deficiency embryopathy from HG. Nausea and vomiting of pregnancy is a common condition. HG, the most severe form, has many maternal and fetal effects. Evaluation of vitamin K status could potentially prevent this rare and disfiguring embryopathy.

  11. Liver replacement for alpha1-antitrypsin deficiency

    Science.gov (United States)

    Putnam, Charles W.; Porter, Kendrick A.; Peters, Robert L.; Ashcavai, Mary; Redeker, Allan G.; Starzl, Thomas E.

    2010-01-01

    A 16-year-old girl with advanced cirrhosis and severe alpha1-antitrypsin deficiency of the homozygous PiZZ phenotype was treated by orthotopic liver transplantation. After replacement of the liver with a homograft from a donor with the normal PiMM phenotype, the alpha1-antitrypsin concentration in the recipient’s serum rose to normal; it had the PiMM phenotype. Two and a third years later, chronic rejection necessitated retransplantation. Insertion of a homograft from a heterozygous PiMZ donar was followed by the identification of that phenotype in the recipient’s serum. Neither liver graft developed the alpha1-antitrypsin glycoprotein deposits seen with the deficiency state. These observations confirm that this hepatic- based inborn error metabolism is metabolically cured by liver replacement. PMID:320694

  12. Isoprenoid biosynthesis and mevalonate kinase deficiency

    OpenAIRE

    Henneman, L.

    2011-01-01

    Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree. De koortsaanvallen treden gemiddeld eens in de drie tot zes weken op zonder dat goed duidelijk is waarom. Linda Henneman toont aan dat door een tekort van bepaalde metabolieten specifieke signaaleiwitten op de verkeerde plek in de cel ter...

  13. 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.)

  14. The biosynthetic basis of adult lactase deficiency.

    OpenAIRE

    Witte, J; Lloyd, M.; Lorenzsonn, V; Korsmo, H.; Olsen, W.

    1990-01-01

    The intestinal brush-border enzyme lactase splits lactose into its component monosaccharides, glucose and galactose. Relative deficiency of the enzyme during adulthood is a common condition worldwide and is frequently associated with symptoms of lactose intolerance. We studied the synthesis and processing of lactase in normal and adult hypolactasic subjects using human intestinal explants in organ culture. Metabolic labeling experiments in our control subjects with [35S]methionine followed by...

  15. Regulation of Vitamin C Homeostasis during Deficiency

    OpenAIRE

    Jens Lykkesfeldt; Pernille Tveden-Nyborg; Maiken Lindblad

    2013-01-01

    Large cross-sectional population studies confirm that vitamin C deficiency is common in humans, affecting 5%–10% of adults in the industrialized world. Moreover, significant associations between poor vitamin C status and increased morbidity and mortality have consistently been observed. However, the absorption, distribution and elimination kinetics of vitamin C in vivo are highly complex, due to dose-dependent non-linearity, and the specific regulatory mechanisms are not fully understood. Par...

  16. Ornithine transcarbamylase deficiency: a urea cycle defect.

    Science.gov (United States)

    Gordon, Neil

    2003-01-01

    The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. Pathological findings are non-specific. The diagnosis should be considered if coma with cerebral oedema and respiratory alkalosis occurs for no obvious reason. When hyperammonaemia is found, enzyme assay on a liver biopsy should be considered. A useful clue in an asymptomatic patient is a voluntary adoption of a vegetarian diet. Provocative tests, such as the allopurinol test can be used, but the method most frequently applied is mutation analysis. In the case of prenatal diagnosis this is possible on a chorionic villus sample. The prognosis of ornithine transcarbamylase deficiency is better for those with an onset after infancy, but morbidity from brain damage does not appear to be linked to the number of episodes of hyperammonaemia that have occurred. The syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase which catalyses the conversion of ornithine and carbamoyl phosphate to citrulline. The gene responsible for this enzyme is located on Xp21.1, and is expressed in the liver and gut. Mutations can be divided into two groups: those with neonatal onset with all enzyme activity abolished, and those with later onset with partial and varying enzyme deficiency. There can be a variety of precipitating causes, for example sodium valproate. Treatment can be given with a low protein diet, and with alternate pathway drugs such as sodium benzoate and phenylbutyrate. Liver transplant can be considered when symptoms are life-threatening, although there may be severe complications.Gene replacement therapy is the hope of the future.

  17. Iron Homeostasis and Nutritional Iron Deficiency123

    OpenAIRE

    2011-01-01

    Nonheme food ferritin (FTN) iron minerals, nonheme iron complexes, and heme iron contribute to the balance between food iron absorption and body iron homeostasis. Iron absorption depends on membrane transporter proteins DMT1, PCP/HCP1, ferroportin (FPN), TRF2, and matriptase 2. Mutations in DMT1 and matriptase-2 cause iron deficiency; mutations in FPN, HFE, and TRF2 cause iron excess. Intracellular iron homeostasis depends on coordinated regulation of iron trafficking and storage proteins enc...

  18. Primary antibody deficiency and Crohn's disease

    OpenAIRE

    Conlong, P; Rees, W; Shaffer, J; Nicholson, D; Jewell, D.; Heaney, M.; Jones, A; Snowden, N

    1999-01-01

    Five patients with primary antibody deficiency were investigated because of intermittent but persistent diarrhoea of several years duration despite immunoglobulin replacement therapy. We found no evidence of Giardia lambia or other intestinal pathogens to explain their gastrointestinal symptoms. All five had definite radiological evidence of small bowel Crohn's disease and three had histological specimens available with abnormalities consistent with Crohn's disease. One patient had a non-case...

  19. Obesity in 21-hydroxylase deficient patients

    OpenAIRE

    Cornean, R.; Hindmarsh, P; Brook, C.

    1998-01-01

    OBJECTIVES—To evaluate the natural history and timing of adiposity rebound (nadir of body mass index (BMI)) in children with congenital adrenal hyperplasia 21-hydroxylase deficiency (CYP21). 
STUDY DESIGN—A retrospective mixed longitudinal study.
METHODS—Height and changes in body composition (BMI; weight (kg)/height2 (m)), triceps and subscapular skinfolds) were analysed in 22(14 girls, eight boys) prepubertal patients with CYP21 for whom continuous anthropometric data were ...

  20. β-Galactosidase Deficiency in Colombia

    Directory of Open Access Journals (Sweden)

    Alfredo Uribe PhD

    2015-05-01

    Full Text Available β-Galactosidase (BGal is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS. We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from 1492 healthy Colombian individuals and 923 patients, referred between 2005 and August 2014. Dried blood spot (DBS samples from the same number of patients were evaluated. β-Galactosidase was measured with 4-methylumbelliferyl-β-d-galactoside. As a control enzyme, the total hexosaminidase activity was also evaluated. We identified 14 patients with GM1 gangliosidosis, 5 patients with Morquio B, and 1 patient with I-cell disease. We could establish a reference value for Bgal in Colombian leukocyte samples. GM1 gangliosidosis is the main pathology associated with a direct deficiency of BGal. The high number of patients found with MPS IVB indicates that there are patients who could be misdiagnosed due to an unawareness of the disease.

  1. Iron deficiency anemia in celiac disease.

    Science.gov (United States)

    Freeman, Hugh James

    2015-08-21

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet.

  2. Microvascular effects of copper deficiency in rats

    Energy Technology Data Exchange (ETDEWEB)

    Schuschke, D.A.; Saari, J.T.; Ackermann, D.M.; Miller, F.N. (Univ. of Louisville, KY (USA))

    1989-02-15

    We have studied the microcirculatory responses in copper deficient rats using the rat cremaster muscle preparation. Male Sprague-Dawley rats were fed either a copper supplemented diet (CuS, 5 ppm) or a copper deficient diet (CuD, O ppm) for five weeks prior to experimentation. The rats (240-300g) were anesthetized with pentobarbital and the cremaster (with intact nerve and blood supply) were spread in a tissue bath filled with krebs solution. In vivo television microscopy was used to observe the microcirculation. Fluorescein isothiocyanate tagged to bovine serum albumin (FITC-BSA) was injected i.a. 30 min prior to the start of experimentation. In the CuS animals photoactivation of the intravascular FITC-BSA caused significant platelet aggregation and reduction in red blood cell column diameter (RBCCD) by 30 min and stasis of flow by 60 min. In CuD animals there was no reduction in RBCCD and only minor platelet aggregation after 60 min of photoactivation. Topical administration of compound 48/80 (1.0 and 10.0 {mu}g/ml) induced a significantly greater macromolecular leakage (increased interstitial fluorescence of FITC-BSA) in the CuD animals than in the control, CuS animals. These results suggest that copper deficiency results in marked alterations of the regulatory mechanisms governing thrombosis and inflammation.

  3. Palmoplantar keratoderma in Slurp2-deficient mice

    Science.gov (United States)

    Allan, Christopher M.; Procaccia, Shiri; Tran, Deanna; Tu, Yiping; Barnes, Richard H.; Larsson, Mikael; Allan, Bernard B.; Young, Lorraine C.; Hong, Cynthia; Tontonoz, Peter; Fong, Loren G.; Young, Stephen G.; Beigneux, Anne P.

    2015-01-01

    SLURP1, a member of the Ly6 protein family, is secreted by suprabasal keratinocytes. Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Another secreted Ly6 protein, SLURP2, is encoded by a gene located ~20 kb downstream from SLURP1. SLURP2 is produced by suprabasal keratinocytes. To investigate the importance of SLURP2, we first examined Slurp2 knockout mice in which exon 2–3 sequences had been replaced with lacZ and neo cassettes. Slurp2−/− mice exhibited hyperkeratosis on the volar surface of the paws (i.e., PPK), increased keratinocyte proliferation, and an accumulation of lipid droplets in the stratum corneum. They also exhibited reduced body weight and hind limb clasping. These phenotypes are very similar to those of Slurp1−/− mice. To solidify a link between Slurp2 deficiency and PPK and to be confident that the disease phenotypes in Slurp2−/− mice were not secondary to the effects of the lacZ and neo cassettes on Slurp1 expression, we created a new line of Slurp2 knockout mice (Slurp2X−/−) in which Slurp2 was inactivated with a simple nonsense mutation. Slurp2X−/− mice exhibited the same disease phenotypes. Thus, Slurp2 deficiency and Slurp1 deficiencies cause the same disease phenotypes. PMID:26967477

  4. Lactose intolerance and lactase deficiency in children.

    Science.gov (United States)

    Rings, E H; Grand, R J; Büller, H A

    1994-10-01

    The term lactase deficiency is widely used to indicate a low or absent level of lactase enzyme in the small intestine, leading to lactose intolerance. This term is correctly used when the intestinal mucosa is damaged and results in secondary lactase deficiency. In the case of the genetically determined decrease of lactase activity during childhood, however, low lactase levels suggest that the majority of the world's population is "abnormal," whereas individuals from caucasian extraction with high levels of lactase enzyme throughout life are then considered "normal." It would be better to ascribe racial and ethnic lactose malabsorption as the result of genetically determined reduction of lactase activity, rather then implying an "abnormality" by the term, "deficiency." Recent studies reveal that this genetic control is at the transcriptional level. The symptomatology of lactose intolerance varies widely, and the diagnostic method of choice is the lactose breath hydrogen test in combination with clinical findings, although small intestinal biopsies should be performed when mucosal diseases are suspected. Treatment of lactose intolerance depends on the age of the child. In young infants complete restriction of lactose containing foods is rarely necessary.

  5. Iron-refractory iron deficiency anemia.

    Science.gov (United States)

    Yılmaz Keskin, Ebru; Yenicesu, İdil

    2015-03-05

    Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the "atypical" microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field.

  6. Iron-Refractory Iron Deficiency Anemia

    Science.gov (United States)

    Yılmaz Keskin, Ebru; Yenicesu, İdil

    2015-01-01

    Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the “atypical” microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field. PMID:25805669

  7. Iron deficiency anemia in celiac disease

    Science.gov (United States)

    Freeman, Hugh James

    2015-01-01

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet. PMID:26309349

  8. β-Galactosidase Deficiency in Colombia

    Directory of Open Access Journals (Sweden)

    Alfredo Uribe PhD

    2015-05-01

    Full Text Available β-Galactosidase (BGal is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS. We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from 1492 healthy Colombian individuals and 923 patients, referred between 2005 and August 2014. Dried blood spot (DBS samples from the same number of patients were evaluated. β-Galactosidase was measured with 4-methylumbelliferyl-β- d -galactoside. As a control enzyme, the total hexosaminidase activity was also evaluated. We identified 14 patients with GM1 gangliosidosis, 5 patients with Morquio B, and 1 patient with I-cell disease. We could establish a reference value for Bgal in Colombian leukocyte samples. GM1 gangliosidosis is the main pathology associated with a direct deficiency of BGal. The high number of patients found with MPS IVB indicates that there are patients who could be misdiagnosed due to an unawareness of the disease.

  9. Sertraline-induced pseudocholinesterase enzyme deficiency

    Directory of Open Access Journals (Sweden)

    Beyazit Zencirci

    2010-11-01

    Full Text Available Beyazit ZencirciMOSTAS Private Health Hospital, Department of Anesthesiology, Kahramanmaras, TurkeyAbstract: A 47-year-old Turkish male was scheduled for laparoscopic cholecystectomy under general anesthesia. The patient had 2 operations 28 and 19 years ago under general anesthesia. It was learned that the patient was administered succinylcholine during both of these previous operations and that he did not have a history of prolonged recovery or postoperative apnea. The patient had been using sertraline for 3 years before the operation. Pseudocholinesterase is a drug-metabolizing enzyme responsible for hydrolysis of the muscle-relaxant drugs mivacurium and succinylcholine. Deficiency of this enzyme from any cause can lead to prolonged apnea and paralysis following administration of mivacurium and succinylcholine. The diagnosis of pseudocholinesterase enzyme deficiency can be made after careful clinic supervision and peripheral nerve stimulator monitoring. A decrease in the activity of pseudocholinesterase enzyme and a decline in the block effect over time will help verify the diagnosis. Our patient’s plasma cholinesterase was found to have low activity. Instead of pharmacological interventions that may further complicate the situation in such cases, the preferred course of action should be to wait until the block effect declines with the help of sedation and mechanical ventilation. In our case, the prolonged block deteriorated in the course of time before any complications developed.Keywords: mivacurium, pseudocholinesterase deficiency, sertraline

  10. Treatment with amino acids in serine deficiency disorders.

    Science.gov (United States)

    de Koning, T J

    2006-01-01

    Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed.

  11. Myotonia congenita and myoadenylate deaminase deficiency: case report

    Directory of Open Access Journals (Sweden)

    Scola Rosana Herminia

    2003-01-01

    Full Text Available Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.

  12. [Glucose transporter type 1 (GLUT-1) deficiency].

    Science.gov (United States)

    Cano, A; Ticus, I; Chabrol, B

    2008-11-01

    Impaired glucose transport across the blood brain barrier results in glucose transporter type 1 (GLUT-1) deficiency syndrome, first described in 1991. It is characterized by infantile seizures refractory to anticonvulsive treatments, microcephaly, delays in mental and motor development, spasticity, ataxia, dysarthria and other paroxysmal neurologic phenomena, often occurring prior to meals. Affected infants are normal at birth following an uneventful pregnancy and delivery. Seizures usually begin between the age of one and four months and can be preceded by apneic episodes or abnormal eyes movements. Patients with atypical presentations such as mental retardation and intermittent ataxia without seizures, or movement disorders characterized by choreoathetosis and dystonia, have also been described. Glucose is the principal fuel source for the brain and GLUT-1 is the only vehicle by which glucose enters the brain. In case of GLUT-1 deficiency, the risk of clinical manifestations is increased in infancy and childhood, when the brain glucose demand is maximal. The hallmark of the disease is a low glucose concentration in the cerebrospinal fluid in a presence of normoglycemia (cerebrospinal fluid/blood glucose ratio less than 0.4). The GLUT-1 defect can be confirmed by molecular analysis of the SCL2A1 gene or in erythrocytes by glucose uptake studies and GLUT-1 immunoreactivity. Several heterozygous mutations, with a majority of de novo mutations, resulting in GLUT-1 haploinsufficiency, have been described. Cases with an autosomal dominant transmission have been established and adults can exhibit symptoms of this deficiency. Ketogenic diet is an effective treatment of epileptic manifestations as ketone bodies serve as an alternative fuel for the developing brain. However, this diet is not effective on cognitive impairment and other treatments are being evaluated. The physiopathology of this disorder is partially unclear and its understanding could explain the clinical

  13. [Prevention of iron deficiency and iron deficiency anemia in tropical areas].

    Science.gov (United States)

    Dillon, J C

    2000-01-01

    Iron deficiency is the most widespread nutritional disease in the World. It is prevalent in tropical areas especially in pregnant women and children. The main cause in these areas is consumption of foods containing inhibitors of iron absorption resulting in insufficient bioavailability. In advanced stages of iron deficiency, low hemoglobin levels lead to anemia. Functional consequences of anemia depend on age including mental and physical retardation in children and work disability in adults. Although other disorders including parasitic, infectious, genetic, and nutritional diseases may be involved in anemia in tropical areas, iron deficiency is always a factor because of nutritional conditions. The WHO has proposed laboratory criteria for use in establishing the incidence of iron deficiency and related anemia in a given population. Based on several surveys, four preventive strategies have been developed, i.e., dietary diversification, iron supplementation, general public health measures, and food fortification. Each of these strategies has advantages and disadvantages. The prevailing consensus is that coordinated use of these approaches holds forth the only hope of impacting the incidence of iron-deficiency anemia in tropical regions.

  14. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

    Science.gov (United States)

    Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D M

    2014-07-01

    Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders.

  15. X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

    Science.gov (United States)

    van de Kamp, Jiddeke M; Mancini, Grazia M; Salomons, Gajja S

    2014-09-01

    Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The condition mainly affects the brain while other creatine requiring organs, such as the muscles, are relatively spared. Recent studies have provided strong evidence that creatine synthesis also occurs in the brain, leading to the intriguing question of why cerebral creatine is deficient in creatine transporter deficiency. The possible mechanisms explaining the cerebral creatine deficiency are discussed. The creatine transporter knockout mouse provides a good model to study the disease. Over the past years several treatment options have been explored but no treatment has been proven effective. Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment.

  16. Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

    OpenAIRE

    Perla Vicari; Maria Stella Figueiredo

    2010-01-01

    A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro. Neste artigo são brevemente descritas outras condições que podem cursar com anemia microcítica, tais como: talassemias, anemia de doença crônica, anemia sideroblástica e envenenamento por chumbo, patologias estas que devem ser afastadas dura...

  17. Deficiência de ferro na adolescência Iron deficiency in adolescence

    Directory of Open Access Journals (Sweden)

    Marlene P. Garanito

    2010-06-01

    Full Text Available A deficiência de ferro é o distúrbio nutricional mais comum no mundo e constitui a maior causa de anemia associada às condições onde há erro alimentar, perda crônica de sangue ou quando ocorre o crescimento rápido, como na infância, na gravidez e na adolescência. Esta deficiência acarreta prejuízos no desenvolvimento neuropsicomotor, na capacidade de aprendizagem, no apetite, no crescimento e na resposta do sistema imunológico. Na adolescência, além de com frequência observarmos hábitos alimentares inadequados, estão presentes intensas mudanças fisiológicas e psicossociais que, em associação, podem comprometer o crescimento e aumentar o risco do desenvolvimento de deficiência de ferro e outras carências nutricionais, sobretudo na fase púbere. Desta forma, o diagnóstico de deficiência de ferro entre os adolescentes deve ser lembrado a fim de que medidas possam ser tomadas para diminuir a incidência de anemia, do comprometimento do rendimento escolar e do sistema imunológico, neste período da vida.Iron deficiency is the most common nutritional disorder in the world and is a major cause of anemia associated with situations involving chronic blood loss or rapid growth such as during infancy, pregnancy and adolescence. This deficiency leads to impairment in psychomotor development, learning ability, appetite, growth and immune response. In adolescence, inadequate dietary habits are often observed and intensive physiological and psychological changes are seen that when combined can impair growth and increase the risk of developing iron deficiency or other nutritional disorders, especially during puberty. Thus, the diagnosis of iron deficiency among adolescents should always be considered so that measures can be taken to reduce the incidence of anemia, impairment of the immune system and improve school performance.

  18. Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

    OpenAIRE

    Perla Vicari; Maria Stella Figueiredo

    2010-01-01

    A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro. Neste artigo são brevemente descritas outras condições que podem cursar com anemia microcítica, tais como: talassemias, anemia de doença crônica, anemia sideroblástica e envenenamento por chumbo, patologias estas que devem ser afastadas dura...

  19. Iron deficiency anemia from diagnosis to treatment in children

    Science.gov (United States)

    Özdemir, Nihal

    2015-01-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms “iron deficiency” and “iron deficiency anemia” are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake together with rapid growth, low birth weight and gastrointestinal losses related to excessive intake of cow’s milk. If insufficient intake can be excluded and there is insufficient response to oral iron treatment in patients with iron deficiency especially in older children, blood loss should be considered as the underlying cause. The main principles in management of iron deficiency anemia include investigation and elimination of the cause leading to iron deficiency, replacement of deficiency, improvement of nutrition and education of the patient and family. In this article, the practical approaches in the diagnosis and treatment of iron deficiency and the experience of our center have been reviewed. PMID:26078692

  20. Dealing with deficient and missing data.

    Science.gov (United States)

    Dohoo, Ian R

    2015-11-01

    Disease control decisions require two types of data: data describing the disease frequency (incidence and prevalence) along with characteristics of the population and environment in which the disease occurs (hereafter called "descriptive data"); and, data for analytical studies (hereafter called "analytical data") documenting the effects of risk factors for the disease. Both may be either deficient or missing. Descriptive data may be completely missing if the disease is a new and unknown entity with no diagnostic procedures or if there has been no surveillance activity in the population of interest. Methods for dealing with this complete absence of data are limited, but the possible use of surrogate measures of disease will be discussed. More often, data are deficient because of limitations in diagnostic capabilities (imperfect sensitivity and specificity). Developments in methods for dealing with this form of information bias make this a more tractable problem. Deficiencies in analytical data leading to biased estimates of effects of risk factors are a common problem, and one which is increasingly being recognized, but options for correction of known or suspected biases are still limited. Data about risk factors may be completely missing if studies of risk factors have not been carried out. Alternatively, data for evaluation of risk factors may be available but have "item missingness" where some (or many) observations have some pieces of information missing. There has been tremendous development in the methods to deal with this problem of "item missingness" over the past decade, with multiple imputation being the most prominent method. The use of multiple imputation to deal with the problem of item missing data will be compared to the use of complete-case analysis, and limitations to the applicability of imputation will be presented.

  1. Pica in iron deficiency: a case series

    Directory of Open Access Journals (Sweden)

    Tisman Glenn

    2010-03-01

    Full Text Available Abstract Introduction Pica is an unusual condition where patients develop cravings for non-nutritive substances that can cause significant health risks. We report three patients with pica, two of them showing evolutionary changes associated with pica and the third demonstrating a peculiar nature of pica, which has yet to be reported. Case presentation We describe three patients who presented with symptoms of pica. The first patient is a 36-year-old Caucasian woman who had dysfunctional uterine bleeding associated with daily ingestion of two super-sized cups of ice as iced tea. The second patient is a 62-year-old Caucasian man who presented with bleeding from colonic polyps associated with drinking partially frozen bottled water. Lastly, the third patient, a 37-year-old Hispanic woman, presented with dysfunctional uterine bleeding and habitually chewed rubber bands. All three patients presented with hematological parameters diagnostic for iron deficiency anemia. Conclusion Pica has been practiced for centuries without a clear etiology. We have noticed that the younger community of academic and community physicians are not aware of the importance of complaints related to pica. None of our patients we describe here, as well as their primary care physicians, were aware of the importance of their pica related symptoms. Pica symptoms abated in one of our patients upon iron supplementation, while the other two are currently under treatment as of this writing. We believe pica is an important sign of iron deficiency that should never be ignored, and the craving for any unusual substance should compel clinicians to search for occult blood loss with secondary iron deficiency.

  2. Association between iron deficiency and febrile seizures.

    Science.gov (United States)

    Papageorgiou, Valia; Vargiami, Euthymia; Kontopoulos, Eleutherios; Kardaras, Panagiotis; Economou, Marina; Athanassiou-Mataxa, Miranta; Kirkham, Fenella; Zafeiriou, Dimitrios I

    2015-09-01

    The relationship between iron status and febrile seizures has been examined in various settings, mainly in the Developing World, with conflicting results. The aim of this study was to investigate any association between iron deficiency and febrile seizures (FS) in European children aged 6-60 months. Prospective, case-control study. Greek population in Thessaloniki. 50 patients with febrile seizures (cases) and 50 controls (children presenting with fever, without seizures). None. Haematologic parameters (haemoglobin concentration, haematocrit, mean corpuscular volume, red cell distribution width), plasma iron, total iron-binding capacity, plasma ferritin, transferrin saturation and soluble transferrin receptors were compared in cases and controls. Plasma ferritin was lower (median [range]: 42.8 (3-285.7) vs 58.3 (21.4-195.3 ng/ml; p = 0.02) and Total Iron Binding Capacity (TIBC) higher (mean [Standard Deviation] 267 [58.9] vs 243 [58.45] μg/dl, p = 0.04) in cases than in controls. Results were similar for 12 complex FS cases (ferritin 30 (3-121 vs 89 (41.8-141.5ng/lL; TIBC 292.92 [68.0] vs 232.08 [36.27] μg/dL). Iron deficiency, defined as ferritin children with febrile seizures have lower Ferritin than those with fever alone, and iron deficiency, but not anaemia, is associated with recurrence. Iron status screening should be considered as routine for children presenting with or at high risk for febrile seizures. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  3. Apoptosis may underlie the pathology of zinc-deficient skin.

    Science.gov (United States)

    Wilson, Dallas; Varigos, George; Ackland, M Leigh

    2006-02-01

    The trace element zinc is essential for the survival and function of all cells. Zinc deficiency, whether nutritional or genetic, is fatal if left untreated. The effects of zinc deficiency are particularly obvious in the skin, seen as an erythematous rash, scaly plaques, and ulcers. Electron microscopy reveals degenerative changes within keratinocytes. Despite the well-documented association between zinc deficiency and skin pathology, it is not clear which cellular processes are most sensitive to zinc deficiency and could account for the typical pathological features. We used the cultured HaCaT keratinocyte line to obtain insight into the cellular effects of zinc deficiency, as these cells show many characteristics of normal skin keratinocytes. Zinc deficiency was induced by growing cells in the presence of the zinc chelator, TPEN, or by growth in zinc-deficient medium. Growth of cells in zinc-deficient medium resulted in a 44% reduction of intracellular zinc levels and a 75% reduction in the activity of the zinc-dependent enzyme, 5'-nucleotidase, relative to the control cells. Over a period of 7 days of exposure to zinc-deficient conditions, no changes in cell viability and growth, or in the cytoskeletal and cell adhesion systems, were found in HaCaT cells. At 7 days, however, induction of apoptosis was indicated by the presence of DNA fragmentation and expression of active caspase-3 in cells. These results demonstrate that apoptosis is the earliest detectable cellular change induced by zinc deficiency in HaCaT keratinocytes. Our observations account for many of the features of zinc deficiency, including the presence of degenerate nuclei, chromatin aggregates and abnormal organization of keratin, that may represent the later stages of apoptosis. In summary, a major causal role for apoptosis in the pathology of zinc deficiency in the skin is proposed. This role is consistent with the previously unexplained diverse range of degenerative cellular changes seen at the

  4. Prophylactic immunoglobulin therapy in secondary immune deficiency

    DEFF Research Database (Denmark)

    Agostini, Carlo; Blau, Igor-Wolfgang; Kimby, Eva

    2016-01-01

    INTRODUCTION: In primary immunodeficiency (PID), immunoglobulin replacement therapy (IgRT) for infection prevention is well-established and supported by a wealth of clinical data. On the contrary, very little evidence-based data is available on the challenges surrounding the use of Ig......RT in secondary immune deficiencies (SID), and most published guidelines are mere extrapolations from the experience in PID. AREAS COVERED: In this article, four European experts provide their consolidated opinion on open questions surrounding the prophylactic use of IgRT in SID, based on their clinical...

  5. Music-reading deficiencies and the brain

    Directory of Open Access Journals (Sweden)

    Lola L. Cuddy

    2006-01-01

    Full Text Available This paper reviews the literature on brain damage and music-reading for the past 25 years. Acquired patterns of selective loss and sparing are described, including both the association and dissociation of music and text reading, and association and dissociation among components of music reading. As well, we suggest that developmental music - reading deficiencies may be isolated in a form analogous to developmental dyslexia for text or congenital amusia for auditory music processing. Finally, we propose that the results of brain damage studies can contribute to the development of a model of normal music reading.

  6. of iron deficiency in adolescent female athletes

    Directory of Open Access Journals (Sweden)

    J Malczewska-Lenczowska

    2017-04-01

    Full Text Available The aim of this study was to analyse the effectiveness of new haematology parameters related to reticulocytes and mature red blood cells to differentiate pre latent and latent iron deficiency. The study included 219 female athletes (aged 15-20 years representing volleyball, handball, cycling, canoeing, cross-country skiing, swimming and judo. To assess iron status the concentration of ferritin, soluble transferrin receptor (sTfR, iron and total iron binding capacity (TIBC were determined in serum. In addition to blood morphology, the mean cellular haemoglobin content in erythrocytes (CH and reticulocytes (CHr, mean cellular haemoglobin concentration in reticulocytes (CHCMr, the percentage of erythrocytes (HYPOm and reticulocytes (HYPOr with decreased cellular haemoglobin concentration, the percentage of erythrocytes (LowCHm and reticulocytes (LowCHr with decreased cellular haemoglobin content, and percentage of erythrocytes with decreased volume (MICROm were determined. Subjects with ferritin <30 ng/ml were classified as having stage I (pre-latent iron deficiency (ID. The second stage (latent ID was diagnosed when low ferritin was accompanied by elevated sTfR and/or elevated TIBC values. The frequency of ID (without anaemia symptoms was high, amounting to 60% (stage I in 45%, stage II in 15% of subjects. In subjects with stage I ID significant changes in haematological variables concerned mainly reticulocytes: CHCMr (p<.001, CHr (p<.05, LowCHr (p<.05, HYPOr (p<.001 in comparison to normal iron stores. In athletes with latent ID, there were also significant changes (p<.001 in many indices of mature red blood cells, i.e. haemoglobin concentration (Hb, mean corpuscular haemoglobin (MCH, mean corpuscular haemoglobin concentration (MCHC, CH, %LowCHm, as well as %MICROm (p<.01 in relation to the group without iron deficiency. The main finding of this study was that the diminished or exhausted iron stores had already caused changes in reticulocytes

  7. 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......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...

  8. Two mutations of dihydropteridine reductase deficiency.

    Science.gov (United States)

    Ponzone, A; Guardamagna, O; Ferraris, S; Bracco, G; Niederwieser, A; Cotton, R G

    1988-02-01

    Two patients with dihydropteridine reductase (DHPR) deficiency, in one case due to the absence of any enzyme protein (DHPR- cross reactive material (CRM)-) and in the other case due to the production of a mutant type devoid of catalytic activity (DHPR- CRM+) were examined. This latter form of malignant phenylketonuria, whose relative frequency seems to be higher in the Italian population, possibly has a worse prognosis. The earlier onset and the greater severity of clinical symptoms are associated with a more pronounced hydroxylation defect, as shown by higher degree of neonatal hyperphenylalaninaemia, unresponsiveness to an oral tetrahydrobiopterin load, lower concentrations of neurotransmitter metabolites, and reduced tyrosine production after an oral phenylalanine load.

  9. Deficiência de ferro na mulher adulta The iron deficiency in adult woman

    Directory of Open Access Journals (Sweden)

    Lilian P. Rodrigues

    2010-06-01

    Full Text Available A anemia ferropriva é a doença nutricional de maior prevalência no mundo, atingindo 20% a 30% da população. As mulheres, gestantes ou não, fazem parte dos grupos considerados vulneráveis. Entre as possíveis causas da anemia por deficiência de ferro, as perdas sanguíneas menstruais constituem o principal fator de anemia ferropriva da mulher adulta. A proposta deste estudo é rever as causas da anemia na mulher adulta, principalmente decorrente de sangramentos uterinos, assim como o diagnóstico e adoção de medidas preventivas.Iron-deficiency anemia is the most common nutritional disease in the world, affecting from 20 to 30% of the population. Women, both pregnant and otherwise, are included as groups considered vulnerable. Among the possible causes of iron-deficiency anemia, menstruation blood loss is the main cause of iron-deficiency anemia in adult women. The purpose of this study was to review the causes of anemia in adult women, in particular in relation to uterine blood loss including the diagnosis and the adoption of preventive measures.

  10. Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets.

    Science.gov (United States)

    Glorieux, Francis H; Pettifor, John M

    2014-01-01

    This review describes the pathogenesis, clinical presentation and biochemical perturbations found in privational (nutritional) rickets and pseudo-vitamin D deficiency rickets (PDDR), an autosomal recessive condition with loss of function mutations in CYP27B1. It may seem strange to combine a discussion on privational rickets and PDDR as a single topic, but privational rickets and PDDR present with similar clinical signs and symptoms and with similar perturbations in bone and mineral metabolism. Of interest is the characteristic lack of features of rickets at birth in infants with PDDR, a finding which has also been reported in infants born to vitamin D-deficient mothers. This highlights the independence of the fetus and neonate from the need for vitamin D to maintain calcium homeostasis during this period. The variable roles of vitamin D deficiency and dietary calcium deficiency in the pathogenesis of privational rickets are discussed and the associated alterations in vitamin D metabolism highlighted. Although PDDR is a rare autosomal recessive disorder, results of long-term follow-up are now available on the effect of treatment with calcitriol, and these are discussed. Areas of uncertainty, such as should affected mothers breastfeed their infants, are emphasized.

  11. Iodine and Iron Deficiency in Mild Iodine Deficiency Region Under Iodine Supplementation

    Directory of Open Access Journals (Sweden)

    L Suplotova

    2005-03-01

    Full Text Available Objectives: Studying epidemiological criteria deficiency of iron and iodine at the population of Tyumen, on a background of iodine preventive maintenance. Methods: Because iron deficiency may impair the efficacy of iodine supplementation, the aim of this study was to determine the relation between serum ferritin and goiter, urinary iodine following iodized salt supplementation. Schoolboys are included in conformity to recommendations the WHO (1997 in 9—12 years old children (n = 435.. Results: On a background of preventive actions at the Tyumen schoolboys sufficient iodine maintenance (frequency of a craw is determined according to ultrasonic — 1.9%, a median urinary iodine — 113 mkg/l. The average level serum iron has made 13 ± 6.2 mg/dl, serum ferritin — 38.6 ± 30.9 mg/dl. At 30 % of schoolboys deficiency of iron is determined. Conclusion: In conditions compensated endemic goiter authentic correlation between criteria of an exchange of iron and parameters of iodine maintenance it is not established. Key words: iodine deficience, thyroid, goiter, iron, anemia.

  12. From isolated GH deficiency to multiple pituitary hormone deficiency: an evolving continuum - a KIMS analysis

    DEFF Research Database (Denmark)

    Klose, M.; Jonsson, B.; Abs, R.;

    2009-01-01

    with organic AO-GHD, who were GH naive prior to entry into the Pfizer International Metabolic Database (KIMS; 283 (7%) IGHD, 3827 MPHD). The effect of GH replacement after 2 years was assessed in those with available follow-up data (133 IGHD, 2207 MPHD), and development of new deficiencies in those...

  13. MODERN DIAGNOSTIC AND TREATMENT OF VITAMIN В12 DEFICIENCY

    Directory of Open Access Journals (Sweden)

    A. L. Krasnovskiy

    2016-01-01

    Full Text Available An article reflects modern concepts of the etiology of vitamin B12 deficiency including medication-induced conditions. Particular attention is paid to diagnostic algorithm in case of overt and latent forms of deficit. As the method of choice for the diagnosis of vitamin B12 deficiency it is recommended to determine the level of holotranscobalamin and use additional methods for detecting metabolic deficiency of vitamin B12 – to study the levels of homocysteine and methylmalonic acid. Diagnostic algorithms for patients with clinical suspicion of vitamin B12 deficiency and the presence of subclinical deficiency. We reviewed the possibility of vitamin B12 oral preparations to correct low levels of cobalamin in asymptomatic patients, as well as maintenance therapy in patients with clinical signs of vitamin B12 deficiency.

  14. Non haematological effects of iron deficiency - A perspective

    Directory of Open Access Journals (Sweden)

    Ghosh Kanjaksha

    2006-01-01

    Full Text Available Iron deficiency is a continuum beginning from lowering of tissue stores to the phase of exhausted tissue stores, interference with iron driven biochemical reactions in the body, microcytosis, hypochromia, increasing severity of anaemia with all its attendant consequences. Iron deficiency anaemia is a very well known concept but what is often not appreciated is the effect of broad canvas of iron deficiency on various tissues, organs and systems in our body in addition to iron deficiency anaemia leading to concept of "Iron deficiency disease". In this condition not only tissue delivery of oxygen is compromised but proliferation, growth, differentiation, myelinogenesis, immunofunction, energy metabolism, absorption and biotransformation are compromised leading to abnormal growth and behaviour, mental retardation, reduced cardiac performance and work efficiency, infection etc which ultimately leads to the concept that "iron deficiency not only breaks the machine but also wrecks the machinery."

  15. Dietary vitamin B12 deficiency in an adolescent white boy.

    Science.gov (United States)

    O'Gorman, P; Holmes, D; Ramanan, A V; Bose-Haider, B; Lewis, M J; Will, A

    2002-06-01

    Dietary deficiency of cobalamin resulting in tissue deficiency in white individuals is unusual. However, several patients with dietary deficiency who were neither vegan nor Hindu have been described. This report describes the case of a 14 year old boy who was a white non-Hindu with a very low intake of cobalamin, which was not apparent until a detailed dietary assessment was performed. The patient responded rapidly to a combination of oral and parenteral B12. This case illustrates the fact that severe dietary vitamin B12 deficiency can occur in non-Hindu white individuals. Inadequate dietary content of B12 may not be apparent until a detailed dietary assessment is performed. This patient is likely to have had subclinical vitamin B12 deficiency for several years. Increased vitamin B12 requirements associated with the adolescent growth spurt may have provoked overt tissue deficiency.

  16. Calcium And Zinc Deficiency In Preeclamptic Women

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    Sultana Ferdousi

    2011-12-01

    Full Text Available Background: Pre-eclampsia is the most common medical complication of pregnancy associated withincreased maternal and infant mortality and morbidity. Reduced serum calcium and zinc levels arefound associated with elevated blood pressure in preeclampsia. Objective: To observe serum calciumand zinc levels in preeclamptic women. Methods: This cross sectional study was carried out in theDepartment of Physiology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka betweenJuly 2009 to June 2010. In this study, 60 pregnant women of preeclampsia, aged 18-39 years withgestational period more than 20th weeks were included as the study (group B. For comparison ageand gestational period matched 30 normotensive pregnant women control (group A were also studied.All the subjects were selected from Obstetric and Gynae In and Out patient Department of BSMMUand Dhaka Medical College Hospital. Serum calcium was measured by Colorimetric method and serumzinc was measured by Spectrophotometric method. Data were analysed by independent sample t testand Pearson’s correlation coefficient test. Results: Mean serum calcium and zinc levels weresignificantly (p<0.001 lower in study group than those of control group. Again, serum calcium andzinc showed significant negative correlation with SBP and DBP in preeclamptic women. Conclusion:This study concludes that serum calcium and zinc deficiency may be one of the risk factor ofpreeclampsia. Therefore, early detection and supplementation to treat this deficiency may reduce theincidence of preeclampsia.

  17. Bacterial infections in Myd88-deficient mice.

    Science.gov (United States)

    Villano, Jason S; Rong, Fang; Cooper, Timothy K

    2014-04-01

    Three breeding colonies of Myd88(-/-) mice had a history of significant morbidity and mortality. Although strain-specific poor reproductive performance might explain neonatal death and dystocia, mice were found dead or required euthanasia because of moribundity, distended abdomen, head tilt, and seizures. Histopathology results included bacteremia, placentitis, metritis, peritonitis with abscess formation, and suppurative meningoencephalitis. Intralesional gram-negative coccobacilli were present, often in extremely high number. Cultures of samples of the cardiac blood of a mouse and from water-bottle sipper tubes provided to some affected mice grew Pseudomonas aeruginosa. In addition, affected tissues from 2 mice and feces from a third tested PCR-positive for P. aeruginosa. Although the mice had received autoclaved reverse-osmosis-purified drinking water, we suspect that the mice were inoculated with P. aeruginosa through contaminated sipper tubes. Because of the deficiency in most of the Toll-like receptor signaling pathways, these Myd88(-/-) mice were unlikely to have developed competitive innate and adaptive immune responses, resulting in bacterial infections. These clinical cases underscore the importance of understanding how genotype, phenotype and environment affect animal health. Sound husbandry and experimental practices are needed to prevent the exposure of immuno-deficient mice to pathogens.

  18. Pannexin 1 deficiency can induce hearing loss.

    Science.gov (United States)

    Zhao, Hong-Bo; Zhu, Yan; Liang, Chun; Chen, Jin

    Gap junctions play a critical role in hearing. Connexin gap junction gene mutations can induce a high incidence of hearing loss. Pannexin (Panx) gene also encodes gap junction proteins in vertebrates. Panx1 is a predominant pannexin isoform and has extensive expression in the cochlea. Here, we report that deletion of Panx1 in the cochlea could produce a progressive hearing loss. The auditory brainstem response (ABR) recording showed that hearing loss was moderate to severe and severe at high-frequencies. Distortion product otoacoustic emission (DPOAE), which reflects the activity of active cochlear mechanics that can amply acoustic stimulation to enhance hearing sensitivity and frequency selectivity, was also reduced. We further found that Panx1 deficiency could activate Caspase-3 cell apoptotic pathway in the cochlea to cause hair cells and other types of cells degeneration. These data indicate that like connexins Panx1 deficiency can also induce hearing loss. These data also suggest that pannexins play important rather than redundant roles in the cochlea and hearing.

  19. 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.

  20. IgA deficiency in wolves.

    Science.gov (United States)

    Frankowiack, Marcel; Hellman, Lars; Zhao, Yaofeng; Arnemo, Jon M; Lin, Miaoli; Tengvall, Katarina; Møller, Torsten; Lindblad-Toh, Kerstin; Hammarström, Lennart

    2013-06-01

    Low mean concentrations of serum immunoglobulin A (IgA) and an increased frequency of overt IgA deficiency (IgAD) in certain dog breeds raises the question whether it is a breeding-enriched phenomenon or a legacy from the dog's ancestor, the gray wolf (Canis lupus). The IgA concentration in 99 serum samples from 58 free-ranging and 13 captive Scandinavian wolves, was therefore measured by capture ELISA. The concentrations were markedly lower in the wolf serum samples than in the dog controls. Potential differences in the IgA molecule between dogs and wolves were addressed by sequencing the wolf IgA heavy chain constant region encoding gene (IGHA). Complete amino acid sequence homology was found. Detection of wolf and dog IgA was ascertained by showing identity using double immunodiffusion. We suggest that the vast majority of wolves, the ancestor of the dog, are IgA deficient. Copyright © 2013 Elsevier Ltd. All rights reserved.

  1. [Vitamin E deficiency in cystic fibrosis].

    Science.gov (United States)

    Muñoz, C; Polanco, I; Hernanz, A; Carrasco, S; Barea, I; Murga, M L; Arroba, M L; Codoceo, R

    1987-12-01

    Plasma vitamin E levels were measured by high performance liquid chromatography in 42 children with cystic fibrosis and were correlated with the following parameters: sex, age, time of follow-up, clinical evolution (Schwachman score), vitamin E/cholesterol and faecal fat excretion. All children in this study received oral alfa-tocoferol (50-100 mg daily) from the diagnosis. According to the vitamin E level patients were distributed in two groups. Group I: 27 patients (64.3%) with normal concentrations. Group II: 15 patients (35.7%) with decreases plasma levels but without clinical manifestations. Steatorrhea was present in all children except 4 patients from group I and one patient from group II. On the other hand, vitamin E/cholesterol was normal in 80% of patients with vitamin E deficiency (group II). We did not find any correlation between plasma vitamin E levels and the different clinical and biological parameters studied. Further studies should be carried out to throw more light on the mechanism underlying the pathogenesis of vitamin E deficiency in patients with cystic fibrosis.

  2. [Deficiency, disability, neurology and television series].

    Science.gov (United States)

    Collado-Vázquez, Susana; Martínez-Martínez, Ariadna; Cano-de-la-Cuerda, Roberto

    2015-06-01

    The portrayal of neurological disability and deficiency on television has not always been approached in the same way, but has instead tended to reflect the standpoint taken by society with regard to these issues and how they are dealt with according to the prevailing conceptions and values at each particular time. To address the appearance of neurological pathologies in television series and to ponder on the image they have in such contexts. Deficiency and disability of neurological origin have often been depicted on television in series, telefilms and documentaries, and in a wide variety of ways. Here we examine different television series and how they have dealt with neurological pathology, its diagnosis and its treatment, as well as the figure of the healthcare professional and social-familial adaptation. Examples cited include series such as House MD, Glee, American Horror Story, Homeland or Game of Thrones. Television series are a useful tool for making some neurological pathologies better known to the public and for dispelling the myths surrounding others, provided that the pathologies are dealt with in a realistic manner, which is not always the case. More care should be taken with regard to the way in which health professionals are portrayed in television series, as it is not always done correctly and may mislead viewers, who take what they see on the TV as being real.

  3. Iron deficiency anemia in inflammatory bowel disease

    Science.gov (United States)

    Kaitha, Sindhu; Bashir, Muhammad; Ali, Tauseef

    2015-01-01

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia (IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used laboratory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and convenient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD. PMID:26301120

  4. Iodine deficiency disorders (IDD) control in India

    Science.gov (United States)

    Pandav, Chandrakant S.; Yadav, Kapil; Srivastava, Rahul; Pandav, Rijuta; Karmarkar, M.G.

    2013-01-01

    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. PMID:24135192

  5. Iron deficiency anemia in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Sindhu; Kaitha; Muhammad; Bashir; Tauseef; Ali

    2015-01-01

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease(IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia(IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used labora-tory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and con-venient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD.

  6. Recessively inherited deficiencies predisposing to cancer.

    Science.gov (United States)

    Müller, H

    1990-01-01

    The genetic factors involved in the multistep process of carcinogenesis can be divided at least into two major categories: 1. Mutated or lost genes, which may directly represent one step in the sequential process (tumour suppressor genes); inheritance of one tumour suppressor gene causes dominant expression of the carcinogenic phenotype (the dominant inheritance is described in the accompanying paper); 2. Other genes, which lead to conditions that favour the development of cancer and generally are inherited in a recessive fashion; they are the subject of this paper. Autosomal recessively inherited diseases, such as xeroderma pigmentosum, ataxia-telangiectasia, Bloom's syndrome and Fanconi's anaemia display increased genome instability (chromosomal fragility and/or DNA-repair deficiencies) and are associated in the homozygote and probably also in the heterozygote state with defined malignancies. Neoplasms particularly of the lymphoreticular system frequently occur in patients with genetically determined immunodeficiencies (e.g. severe combined immune deficiency or Wiskott-Aldrich syndrome). People differ due to their individual genetic constitution in their responses to various classes of carcinogens such as physical and chemical agents, to dietary habits, as well as to viruses. Furthermore, tumours are often found in patients displaying premature aging (e.g. Werner's syndrome). In addition, several metabolic abnormalities such as genetic syndromes featuring chronic liver disease, but also many other inherited metabolic conditions have cancer as a regular or frequent complication.

  7. Hyperthyroidism caused by acquired immune deficiency syndrome.

    Science.gov (United States)

    Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

    2014-01-01

    Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

  8. Vitamin D deficiency in chronic idiopathic urticaria.

    Science.gov (United States)

    Movahedi, Masoud; Tavakol, Marzieh; Hirbod-Mobarakeh, Armin; Gharagozlou, Mohammad; Aghamohammadi, Asghar; Tavakol, Zahra; Momenzadeh, Kaveh; Nabavi, Mohammad; Dabbaghzade, Abbas; Mosallanejad, Asieh; Rezaei, Nima

    2015-04-01

    Chronic urticaria is the most common skin diseases, characterized by chronic cutaneous lesions which severely debilitates patients in several aspects of their everyday life. Vitamin D is known to exert several actions in the immune system and to influence function and differentiation of mast cells, central role players in the pathogenesis of chronic idiopathic urticaria. This study was performed to evaluate the relationship between vitamin D levels and susceptibility to chronic idiopathic urticaria. One hundred and fourteen patients with chronic idiopathic urticaria were recruited in this study along with one hundred and eighty seven sex-matched and age-matched healthy volunteers as the control group. For each patient, urticaria activity score was calculated and autologous serum skin test was done. Vitamin D metabolic statue was measured in serum as 25 hydroxyvitamin D using enzyme immunoassay method. Patients with chronic idiopathic urticaria significantly showed lower levels of vitamin D. Vitamin D deficiency was significantly associated with increased susceptibility to chronic idiopathic urticaria. There was a significant positive correlation between vitamin D levels and urticaria activity score. This study showed that patients with chronic idiopathic urticaria had reduced levels of vitamin D, while vitamin D deficiency could increase susceptibility to chronic idiopathic urticaria.

  9. Vitamin B12 deficiency. Important new concepts in recognition.

    Science.gov (United States)

    Goodman, K I; Salt, W B

    1990-09-01

    Vitamin B12 deficiency develops over a slowly progressive continuum. Early manifestations may be generalized weakness or fatigue, indigestion, diarrhea, or depression. Pernicious anemia is considered the classic cause, but others include malabsorption because of achlorhydria or other gastric dysfunction, fish tapeworm infection, and strict vegetarianism. Iron deficiency often coexists. Because presentation is often atypical, vitamin B12 deficiency is a diagnostic consideration whenever neuropsychiatric signs or symptoms are unexplained.

  10. Clinical manifestations of mannan-binding lectin deficiency

    DEFF Research Database (Denmark)

    Thiel, Steffen; Frederiksen, Pernille Dorthea; Jensenius, Jens Christian

    2006-01-01

    Mannan-binding lectin (MBL) is a plasma protein of the innate immune system with the ability to initiate antimicrobial and inflammatory actions. MBL deficiency is common. More than 10% of the general population may, depending on definition, be classified as MBL deficient, underlining the redundan...... of the immune system. Ongoing research attempt to illuminate at which conditions MBL deficiency may lead to disease. With examples, this review illustrates the diversity of results obtained so far....

  11. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

    OpenAIRE

    Alangari, Abdullah; Al-Harbi, Abdullah; Al-Ghonaium, 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...

  12. Elevated Serum S-Adenosylhomocysteine in Cobalamin Deficient Megaloblastic Anemia

    OpenAIRE

    Guerra-Shinohara, Elvira M.; Morita, Olga E.; Pagliusi,Regina A; Blaia-d’Avila, Vera L.; Allen, Robert H.; Stabler, Sally P.

    2007-01-01

    Impaired methylation due to accumulation of S-adenosylhomocysteine (SAH) may contribute to the pathophysiology of cobalamin deficient anemia. We assayed serum S-adenosylmethionine (SAM), SAH, total homocysteine (tHcy), and methylmalonic acid (MMA) in 15 subjects with cobalamin deficient megaloblastic anemia and compared results to 19 subjects with anemia/pancytopenia due to other causes. Cobalamin deficient subjects had a median hematocrit of 20% and mean cell volume of 111.7 fL. The median s...

  13. Iron Deficiency in Heart Failure: Looking Beyond Anaemia.

    Science.gov (United States)

    Wong, Christopher C Y; Ng, Austin C C; Kritharides, Leonard; Sindone, Andrew P

    2016-03-01

    Iron is an essential micronutrient in many cellular processes. Iron deficiency, with or without anaemia, is common in patients with chronic heart failure. Observational studies have shown iron deficiency to be associated with worse clinical outcomes and mortality. The treatment of iron deficiency in chronic heart failure patients using intravenous iron alone has shown promise in several clinical trials, although further studies which include larger populations and longer follow-up times are needed.

  14. Iron Deficiency in Heart Failure: A Practical Guide

    OpenAIRE

    Nicole Ebner; Stephan von Haehling

    2013-01-01

    Iron is an element necessary for cells due to its capacity of transporting oxygen and electrons. One of the important co-morbidities in heart failure is iron deficiency. Iron has relevant biological functions, for example, the formation of haemoglobin, myoglobin and numerous enzymatic groups. The prevalence of iron deficiency increases with the severity of heart failure. For a long time, the influence of iron deficiency was underestimated especially in terms of worsening of cardiovascular dis...

  15. The Role of Information Deficiencies in Contract Enforcement

    OpenAIRE

    Vandenberghe, Ann-Sophie

    2010-01-01

    textabstractInformation deficiencies play an important role in contract enforcement. Courts frequently refuse to enforce contractual terms when one of the parties lacks information. The difficult question is where the line is drawn (or should be drawn) between information deficiencies of which the law will take account and those which it will disregard. This article sets out the economic framework for determining when it is appropriate to shift responsibility for information deficiencies from...

  16. Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root

    Directory of Open Access Journals (Sweden)

    Daniel Powell

    2017-01-01

    Full Text Available An elderly woman presented with acne and male pattern alopecia, which upon diagnostic evaluation was found to be due to nonclassic 11-hydroxylase deficiency. We previously reported that Ashwagandha root ameliorates nonclassic 3-β-ol dehydrogenase and aldosterone synthase deficiencies. This is the first report of its use being associated with amelioration of nonclassic 11-hydroxylase deficiency, where its apparent effects appear to be dose-related.

  17. The Evidence-Based Evaluation of Iron Deficiency Anemia.

    Science.gov (United States)

    Hempel, Eliana V; Bollard, Edward R

    2016-09-01

    Anemia is a prevalent disease with multiple possible etiologies and resultant complications. Iron deficiency anemia is a common cause of anemia and is typically due to insufficient intake, poor absorption, or overt or occult blood loss. Distinguishing iron deficiency from other causes of anemia is integral to initiating the appropriate treatment. In addition, identifying the underlying cause of iron deficiency is also necessary to help guide management of these patients. We review the key components to an evidence-based, cost-conscious evaluation of suspected iron deficiency anemia.

  18. [Vegetarians are at high risk of vitamin B12 deficiency].

    Science.gov (United States)

    Javid, Parva; Christensen, Erik

    2016-01-04

    Since vegetarians have a lower intake of vitamin B12 (B12) than non-vegetarians, they are at increased risk of developing B12 deficiency. The less animal products the food contains the worse the B12 status. However, even lacto-ovo-vegetarians run the risk of becoming deficient in B12. Vegetarians are recommended regularly to take supplements of B12, and they should be informed of the lacking content of B12 of plant products and the hazards of B12 deficiency. Furthermore, vegetarians should routinely be checked for possible B12 deficiency.

  19. Choice of anesthesia in molybdenum cofactor deficiency: A case report

    Directory of Open Access Journals (Sweden)

    Metin Alkan

    2014-01-01

    Full Text Available Molybdenum cofactor (MC deficiency is defined as a progressive neurodegenerative and neurometabolic disease, characterized by convulsions, severe mental and motor retardation resistant to the treatment. Patients with MC deficiency usually need at least sedation for even minor interventions such as dental examination or treatment. Sedation or general anesthesia for these patients may be complicated due to accompanying disorders. However, we were unable to find any reports on anesthetic management of patients with MC deficiency in the literature. In this article, we intend to share our experience of a patient with MC deficiency, who had undergone dental treatment under deep sedation.

  20. 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

  1. AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.

    Science.gov (United States)

    Cheng, Jidong; Morisaki, Hiroko; Toyama, Keiko; Ikawa, Masahito; Okabe, Masaru; Morisaki, Takayuki

    2012-11-01

    AMP deaminase (AMPD) catalyzes AMP to IMP and plays an important role in energy charge and nucleotide metabolism. Human AMPD3 deficiency is a type of erythrocyte-specific enzyme deficiency found in individuals without clinical symptoms, although an increased level of ATP in erythrocytes has been reported. To better understand the physiological and pathological roles of AMPD3 deficiency, we established a line of AMPD3-deficient [A3(-/-)] mice. No AMPD activity and a high level of ATP were observed in erythrocytes of these mice, similar to human RBC-AMPD3 deficiency, while other characteristics were unremarkable. Next, we created AMPD3 and pyruvate kinase (PK) double-deficient [PKA(-/-,-/-)] mice by mating A3(-/-) mice with CBA-Pk-1slc/Pk-1slc mice [PK(-/-)], a spontaneous PK-deficient strain showing hemolytic anemia. In PKA(-/-,-/-) mice, the level of ATP in red blood cells was increased 1.5 times as compared to PK(-/-) mice, although hemolytic anemia in those animals was not improved. In addition, we observed osmotic fragility of erythrocytes in A3(-/-) mice under fasting conditions. In contrast, the ATP level in erythrocytes was elevated in A3(-/-) mice as compared to the control. In conclusion, AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to PK deficiency and leads to erythrocyte dysfunction.

  2. Lower limb deficient children in The Netherlands: epidemiological aspects.

    Science.gov (United States)

    Rijnders, L J; Boonstra, A M; Groothoff, J W; Cornel, M C; Eisma, W H

    2000-04-01

    Information on the characteristics of children with limb deficiencies and amputations in The Netherlands is largely lacking. The present study aimed to collect data about the prevalence of congenital deficiencies, the ratio of congenital to acquired limb deficiencies, types of lower leg deficiency or amputation and male/female ratios. Data were obtained from a regional birth defects registry for the northern part of The Netherlands (EUROCAT-NNL) and from a national survey. Inclusion criteria for the selection of the EUROCAT data were: children/foetuses with lower leg deficiencies born in 1981-1986. Inclusion criteria for the survey data were: children aged 1-18 years with congenital deficiencies or acquired amputations of the leg, excluding toe deficiencies/amputations. Both the regional birth defects registry and the national survey only yielded small numbers of children, which limits the validity of the authors' findings. The Eurocat data show a prevalence of lower leg deficiencies at birth of 2.07/10,000. Fifty-five (55) children/foetuses were included in the present study. The male/female ratio was 1:1. Of the live-born children, 30% also had defects of the upper limbs, while 38% had bilateral lower limb deficiencies. The national survey included 89 children, of whom 73% had congenital deficiencies, while the others had undergone amputations: of which 37% were due to malignancies, 29% to traumata, 13% to infections and 21% to other pathology. The male/female ratio was 7:3 for the children with congenital deficiencies versus 6:4 for the children with acquired amputations. In the group of congenital deficiencies, fibula deficiency was most frequently seen (36%), while in the group with acquired amputations trans-femoral amputation, knee disarticulation and trans-tibial amputation were seen with equal frequency (21%). In 40% of the children with congenital deficiency and in 8% of the children with acquired amputations the arm was also affected. Both legs were

  3. Carnitine metabolism in the vitamin B-12-deficient rat.

    Science.gov (United States)

    Brass, E P; Stabler, S P

    1988-01-01

    In vitamin B-12 (cobalamin) deficiency the metabolism of propionyl-CoA and methylmalonyl-CoA are inhibited secondarily to decreased L-methylmalonyl-CoA mutase activity. Production of acylcarnitines provides a mechanism for removing acyl groups and liberating CoA under conditions of impaired acyl-CoA utilization. Carnitine metabolism was studied in the vitamin B-12-deficient rat to define the relationship between alterations in acylcarnitine generation and the development of methylmalonic aciduria. Urinary excretion of methylmalonic acid was increased 200-fold in vitamin B-12-deficient rats as compared with controls. Urinary acylcarnitine excretion was increased in the vitamin B-12-deficient animals by 70%. This increase in urinary acylcarnitine excretion correlated with the degree of metabolic impairment as measured by the urinary methylmalonic acid elimination. Urinary propionylcarnitine excretion averaged 11 nmol/day in control rats and 120 nmol/day in the vitamin B-12-deficient group. The fraction of total carnitine present as short-chain acylcarnitines in the plasma and liver of vitamin B-12-deficient rats was increased as compared with controls. When the rats were fasted for 48 h, relative or absolute increases were seen in the urine, plasma, liver and skeletal-muscle acylcarnitine content of the vitamin B-12-deficient rats as compared with controls. Thus vitamin B-12 deficiency was associated with a redistribution of carnitine towards acylcarnitines. Propionylcarnitine was a significant constituent of the acylcarnitine pool in the vitamin B-12-deficient animals. The changes in carnitine metabolism were consistent with the changes in CoA metabolism known to occur with vitamin B-12 deficiency. The vitamin B-12-deficient rat provides a model system for studying carnitine metabolism in the methylmalonic acidurias. PMID:3196310

  4. Vitamin B12 deficiency and gastric histopathology in older patients

    Institute of Scientific and Technical Information of China (English)

    KR Dholakia; TS Dharmarajan; D Yadav; S Oiseth; EP Norkus; CS Pitchumoni

    2005-01-01

    AIM: To compare upper gastric endoscopic and histopathologic findings in older adults in the presence and absence of B12 deficiency.METHODS: A prospective analysis of upper gastric endoscopic and gastric histopathologic findings from 30 newly identified B12-deficient patients (11 males,19 females) and 16 controls with normal B12 status (6males, 10 females) was performed. For all subjects, the indication for upper endoscopy and gastric biopsy were unrelated to B12 status. A single pathologist, blinded to B12 status, processed and interpreted the biopsy samples. Endoscopic and histopathologic findings were correlated with age, gender, hematocrit (Hct), MCV and B12 status.RESULTS: The B12-deficient group had significantly lower mean serum B12 levels compared to the controls (P<0.00005) while their mean Hct, MCV and serum albumin levels were similar. Iron deficiency (ferritinbased) was present in 21% of B12-deficient patients and intrinsic factor antibodies were present in29% (5/17) of B12-deficient patients. The endoscopic findings revealed significantly different rates of gastritis and atrophy between the B12-deficient and control groups (P= 0.017).B12-deficient patients had significantly less superficial gastritis (62% vs 94%) and significantly more atrophic gastritis (28% vs 0%) as compared to the controls (P= 0.039). Intestinal metaplasia was similar in both groups. Helicobacter pyloriinfection rates were similar in the B12-deficient patients and controls (40% vs31%).CONCLUSION: Significantly different endoscopic findings and types of gastritis could often be observed in the presence and absence of B12 deficiency. Atrophy,based on endoscopy, and atrophic gastritis, based on histopathology, suggest the presence of B12 deficiency.Gastric histopathology is not influenced by the age,gender, Hct or MCV of the patients.

  5. Existing bridge evaluation using deficiency point method

    Directory of Open Access Journals (Sweden)

    Vičan Josef

    2016-01-01

    Full Text Available In the transforming EU countries, transportation infrastructure has a prominent position in advancing industry and society. Recent developments show, that attention should be moved from the design of new structures towards the repair and reconstruction of existing ones to ensure and increase their satisfactory structural reliability and durability. The problem is very urgent because many construction projects, especially transport infrastructure, in most European countries are more than 50-60 years old and require rehabilitations based on objective evaluations. Therefore, the paper presents methodology of existing bridge evaluation based on reliability concept using Deficiency Point Method. The methodology was prepared from the viewpoint to determine the priority order for existing bridge rehabilitation.

  6. Vitamin K deficiency bleeding: a case study.

    Science.gov (United States)

    Woods, Christopher W; Woods, Amanda G; Cederholm, Carmen K

    2013-12-01

    Vitamin K deficiency bleeding (VKDB), formerly known as hemorrhagic disease of the newborn (HDN), is a bleeding disorder in neonates that is caused by inadequate serum levels of vitamin K. Vitamin K is a nutrient essential for adequate function of the coagulation cascade. Certain internal and external factors place newborn infants at higher risk for VKDB. Therefore, vitamin K prophylaxis has become the standard of care for newborns. Although the American Academy of Pediatrics recommends the administration of vitamin K to newborns, some parents are choosing to withhold vitamin K administration at birth. This case study describes an infant who developed VKDB in the absence of vitamin K prophylaxis. Although parents ultimately have the right to choose whether or not to administer vitamin K, as healthcare professionals, it is important to provide education regarding the potential complications of withholding vitamin K and the signs of VKDB if vitamin K prophylaxis at birth is withheld.

  7. Boron in Plants: Deficiency and Toxicity

    Institute of Scientific and Technical Information of China (English)

    Juan J. Camacho-Crist6bal; Jesus Rexach; Agustin González-Fontess

    2008-01-01

    Boron (B) is an essential nutrient for normal growth of higher plants, and B availability in soil and irrigation water is an important determinant of agricultural production. To date, a primordial function of B is undoubtedly its structural role in the cell wall; however, there is increasing evidence for a possible role of B in other processes such as the maintenance of plasma membrane function and several metabolic pathways. In recent years, the knowledge of the molecular basis of B deficiency and toxicity responses in plants has advanced greatly. The aim of this review is to provide an update on recent findings related to these topics, which can contribute to a better understanding of the role of B in plants.

  8. Growth hormone deficiency in treated acromegaly.

    Science.gov (United States)

    Mazziotti, Gherardo; Marzullo, Paolo; Doga, Mauro; Aimaretti, Gianluca; Giustina, Andrea

    2015-01-01

    Growth hormone deficiency (GHD) of the adult is characterized by reduced quality of life (QoL) and physical fitness, skeletal fragility, and increased weight and cardiovascular risk. Hypopituitarism may develop in patients after definitive treatment of acromegaly, but an exact prevalence of GHD in this population is still uncertain owing to limited awareness and the scarce and conflicting data available on this topic. Because acromegaly and GHD may yield adverse consequences on similar target systems, the final outcomes of some complications of acromegaly may be further affected by the occurrence of GHD. However, it is still largely unknown whether patients with post-acromegaly GHD may benefit from GH replacement. We review the diagnostic, clinical, and therapeutic aspects of GHD in adult patients treated for acromegaly. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Laser spectroscopy of neutron deficient Sn isotopes

    CERN Multimedia

    We propose to study the ground state properties of neutron-deficient Sn isotopes towards the doubly-magic nucleus $^{100}$Sn. Nuclear spins, changes in the rms charge radii and electromagnetic moments of $^{101-121}$Sn will be measured by laser spectroscopy using the CRIS experimental beam line. These ground-state properties will help to clarify the evolution of nuclear structure properties approaching the $\\textit{N = Z =}$ 50 shell closures. The Sn isotopic chain is currently the frontier for the application of state-of-the-art ab-initio calculations. Our knowledge of the nuclear structure of the Sn isotopes will set a benchmark for the advances of many-body methods, and will provide an important test for modern descriptions of the nuclear force.

  10. Alpha-1 antitrypsin deficiency: diagnosis and treatment

    OpenAIRE

    2008-01-01

    A deficiência de alfa-1 antitripsina é um distúrbio genético de descoberta recente e que ocorre com freqüência comparável à da fibrose cística. Resulta de diferentes mutações no gene SERPINA1 e tem diversas implicações clínicas. A alfa-1 antitripsina é produzida principalmente no fígado e atua como uma antiprotease. Tem como principal função inativar a elastase neutrofílica, impedindo a ocorrência de dano tecidual. A mutação mais freqüentemente relacionada à doença clínica é o alelo Z, que de...

  11. Lactose intolerance and other disaccharidase deficiency.

    Science.gov (United States)

    Tomar, Balvir S

    2014-09-01

    Intolerance to foods which contain lactose can cause a range of intestinal and systemic symptoms. These symptoms are caused by Lactase deficiency which is encoded by a single gene (LCT) of ≈ 50 kb located on chromosome 2q21. In some food items, lactose has been missed because of "hidden" lactose due to inadequately labeled, confusing diagnosis of lactose intolerance based on dietary restriction of dairy foods. Two polymorphisms, C/T13910 and G/A22018, linked to hypolactasia, correlate with breath hydrogen and symptoms after lactose. The key in the management of lactose intolerance is the dietary removal of lactose. Patients diagnosed as lactose intolerant must be advised of "risk" foods, inadequately labeled, including processed meats, bread, cake mixes, soft drinks, and lagers. This review highlights the types, symptoms and management of lactose intolerance and also highlights differences from milk allergy which closely mimics the symptoms of lactose intolerance.

  12. DISTANCE EDUCATION FOR PEOPLE WITH VISUAL DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Denise Gregory Trentin

    2013-07-01

    Full Text Available The present work had as basic objective, to analyze the isotropic ways used by students with Visuals deficiencies in the Distance Education. This analysis was relative to the conditions of accessibility in the Virtual Learning Environment, for the accomplishment of the course of Assistive Technology, offered for the Unesp of Presidente Prudente. To reach this objective, a analytical – exploratory type research was performed, by means of observation and application of questionnaires to one student, with blindness. This student was selected to participate of the fourth edition of the course, carried through in the year of 2011. The analysis of the use of the isotropic ways for the student with blindness was based on the theory of Vygotski and the concepts of the zone of proximal development and the social constructivism theory.

  13. Iodine deficiency and nutrition in Scandinavia

    DEFF Research Database (Denmark)

    Manousou, Sofia; Dahl, Lisbeth; Heinsbaek Thuesen, Betina

    2017-01-01

    Iodine nutrition is a result of geological conditions, iodine fortification and monitoring strategies within a country together with the dietary habits of the population. This review summarizes the basis for the current iodine situation in the Scandinavian countries in order to identify gaps...... strategies have been used in Scandinavia to improve iodine nutrition. The major source of iodine is iodized salt in Sweden and from milk and dairy products in Norway. In Denmark, drinking water, milk, dairy products and iodized salt used in commercial production of bread are the important sources of iodine....... The current iodine status in Scandinavia is not optimal and action is ongoing to increase iodination in Denmark, where there is mild iodine deficiency in the general population. Data from all three countries indicate insufficient iodine nutrition during pregnancy and there is a need for data from children...

  14. Radiochemical studies of neutron deficient actinide isotopes

    Energy Technology Data Exchange (ETDEWEB)

    Williams, K.E.

    1978-04-01

    The production of neutron deficient actinide isotopes in heavy ion reactions was studied using alpha, gamma, x-ray, and spontaneous fission detection systems. A new isotope of berkelium, /sup 242/Bk, was produced with a cross-section of approximately 10 ..mu..b in reactions of boron on uranium and nitrogen on thorium. It decays by electron capture with a half-life of 7.0 +- 1.3 minutes. The alpha-branching ratio for this isotope is less than 1% and the spontaneous fission ratio is less than 0.03%. Studies of (Heavy Ion, pxn) and (Heavy Ion, ..cap alpha..xn) transfer reactions in comparison with (Heavy ion, xn) compound nucleus reactions revealed transfer reaction cross-sections equal to or greater than the compound nucleus yields. The data show that in some cases the yield of an isotope produced via a (H.I.,pxn) or (H.I.,..cap alpha..xn) reaction may be higher than its production via an xn compound nucleus reaction. These results have dire consequences for proponents of the ''Z/sub 1/ + Z/sub 2/ = Z/sub 1+2/'' philosophy. It is no longer acceptable to assume that (H.I.,pxn) and (H.I.,..cap alpha..xn) product yields are of no consequence when studying compound nucleus reactions. No evidence for spontaneous fission decay of /sup 228/Pu, /sup 230/Pu, /sup 232/Cm, or /sup 238/Cf was observed indicating that strictly empirical extrapolations of spontaneous fission half-life data is inadequate for predictions of half-lives for unknown neutron deficient actinide isotopes.

  15. The skeletal phenotype of chondroadherin deficient mice.

    Directory of Open Access Journals (Sweden)

    Lovisa Hessle

    Full Text Available Chondroadherin, a leucine rich repeat extracellular matrix protein with functions in cell to matrix interactions, binds cells via their α2β1 integrin as well as via cell surface proteoglycans, providing for different sets of signals to the cell. Additionally, the protein acts as an anchor to the matrix by binding tightly to collagens type I and II as well as type VI. We generated mice with inactivated chondroadherin gene to provide integrated studies of the role of the protein. The null mice presented distinct phenotypes with affected cartilage as well as bone. At 3-6 weeks of age the epiphyseal growth plate was widened most pronounced in the proliferative zone. The proteome of the femoral head articular cartilage at 4 months of age showed some distinct differences, with increased deposition of cartilage intermediate layer protein 1 and fibronectin in the chondroadherin deficient mice, more pronounced in the female. Other proteins show decreased levels in the deficient mice, particularly pronounced for matrilin-1, thrombospondin-1 and notably the members of the α1-antitrypsin family of proteinase inhibitors as well as for a member of the bone morphogenetic protein growth factor family. Thus, cartilage homeostasis is distinctly altered. The bone phenotype was expressed in several ways. The number of bone sialoprotein mRNA expressing cells in the proximal tibial metaphysic was decreased and the osteoid surface was increased possibly indicating a change in mineral metabolism. Micro-CT revealed lower cortical thickness and increased structure model index, i.e. the amount of plates and rods composing the bone trabeculas. The structural changes were paralleled by loss of function, where the null mice showed lower femoral neck failure load and tibial strength during mechanical testing at 4 months of age. The skeletal phenotype points at a role for chondroadherin in both bone and cartilage homeostasis, however, without leading to altered longitudinal

  16. Premature aging in telomerase-deficient zebrafish

    Directory of Open Access Journals (Sweden)

    Monique Anchelin

    2013-09-01

    The study of telomere biology is crucial to the understanding of aging and cancer. In the pursuit of greater knowledge in the field of human telomere biology, the mouse has been used extensively as a model. However, there are fundamental differences between mouse and human cells. Therefore, additional models are required. In light of this, we have characterized telomerase-deficient zebrafish (Danio rerio as the second vertebrate model for human telomerase-driven diseases. We found that telomerase-deficient zebrafish show p53-dependent premature aging and reduced lifespan in the first generation, as occurs in humans but not in mice, probably reflecting the similar telomere length in fish and humans. Among these aging symptoms, spinal curvature, liver and retina degeneration, and infertility were the most remarkable. Although the second-generation embryos died in early developmental stages, restoration of telomerase activity rescued telomere length and survival, indicating that telomerase dosage is crucial. Importantly, this model also reproduces the disease anticipation observed in humans with dyskeratosis congenita (DC. Thus, telomerase haploinsufficiency leads to anticipation phenomenon in longevity, which is related to telomere shortening and, specifically, with the proportion of short telomeres. Furthermore, p53 was induced by telomere attrition, leading to growth arrest and apoptosis. Importantly, genetic inhibition of p53 rescued the adverse effects of telomere loss, indicating that the molecular mechanisms induced by telomere shortening are conserved from fish to mammals. The partial rescue of telomere length and longevity by restoration of telomerase activity, together with the feasibility of the zebrafish for high-throughput chemical screening, both point to the usefulness of this model for the discovery of new drugs able to reactivate telomerase in individuals with DC.

  17. Mitochondrial Energy-Deficient Endophenotype in Autism

    Directory of Open Access Journals (Sweden)

    J. J. Gargus

    2008-01-01

    Full Text Available While evidence points to a multigenic etiology of most autism, the pathophysiology of the disorder has yet to be defined and the underlying genes and biochemical pathways they subserve remain unknown. Autism is considered to be influenced by a combination of various genetic, environmental and immunological factors; more recently, evidence has suggested that increased vulnerability to oxidative stress may be involved in the etiology of this multifactorial disorder. Furthermore, recent studies have pointed to a subset of autism associated with the biochemical endophenotype of mitochondrial energy deficiency, identified as a subtle impairment in fat and carbohydrate oxidation. This phenotype is similar, but more subtle than those seen in classic mitochondrial defects. In some cases the beginnings of the genetic underpinnings of these mitochondrial defects are emerging, such as mild mitochondrial dysfunction and secondary carnitine deficiency observed in the subset of autistic patients with an inverted duplication of chromosome 15q11-q13. In addition, rare cases of familial autism associated with sudden infant death syndrome (SIDS or associated with abnormalities in cellular calcium homeostasis, such as malignant hyperthermia or cardiac arrhythmia, are beginning to emerge. Such special cases suggest that the pathophysiology of autism may comprise pathways that are directly or indirectly involved in mitochondrial energy production and to further probe this connection three new avenues seem worthy of exploration: 1 metabolomic clinical studies provoking controlled aerobic exercise stress to expand the biochemical phenotype, 2 high-throughput expression arrays to directly survey activity of the genes underlying these biochemical pathways and 3 model systems, either based upon neuronal stem cells or model genetic organisms, to discover novel genetic and environmental inputs into these pathways.

  18. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

    Science.gov (United States)

    Ponzone, Alberto; Porta, Francesco; Mussa, Alessandro; Alluto, Alessandra; Ferraris, Silvio; Spada, Marco

    2010-05-01

    Conflicting results have been reported concerning the efficacy of tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase, for reducing phenylalanine (Phe) concentration in phenylketonuria (PKU). We aimed to test quantitatively the effects of BH4 in PKU patients. Seven fully characterized patients were selected among a population of 130 PKU subjects as harboring PKU mutations predicted as BH4 responsive and previously considered responsive to a cofactor challenge. They received a simple Phe (100 mg/kg) and 2 combined Phe (100 mg/kg) and BH4 (20 mg/kg) oral loading tests. Cofactor was administered either before or after the amino acid. The concentrations of Phe, tyrosine (Tyr), and biopterin were measured over 24 hours after loading. The comparative analysis of the loading tests showed that in all patients plasma Phe concentrations peaked within 3 hours, and fell within 24 hours by about 50% in benign, 20% in mild, and 15% in severe phenylalanine hydroxylase deficiency regardless of BH4 administration. A consistent or moderate increase of plasma Tyr, again independent of the cofactor challenge, was observed only in the less severe forms of PAH deficiency. Mean blood biopterin concentration increased 6 times after simple Phe and 34 to 39 times after combined loading tests. The administration of BH4 does not alter Phe and Tyr metabolism in PKU patients. The clearance of plasma Phe after oral loading and, as well as Tyr production, is not related to cofactor challenge but to patient's phenotype. The assessment of BH4 responsiveness by the methods so far used is not reliable, and the occurrence of BH4-responsive forms of PKU still has to be definitely proven.

  19. Deficiência de ferro na criança Iron deficiency in infants and children

    Directory of Open Access Journals (Sweden)

    Josefina A. P. Braga

    2010-06-01

    Full Text Available Estima-se que dois bilhões de indivíduos sejam anêmicos e que a deficiência de ferro ocorra em cerca de quatro bilhões de indivíduos, afetando a população de países desenvolvidos e, com mais intensidade, a dos países em desenvolvimento. No Brasil, estudos apontam elevada prevalência de anemia ferropriva em crianças dependendo da região e da faixa etária. A velocidade de crescimento aumentada, determinando maior necessidade de ferro, aliada a dieta inadequada em ferro e ao desmame precoce, contribuem para a elevada prevalência de anemia, principalmente nos dois primeiros anos de vida. Outros fatores de risco são apontados, como a prematuridade, o baixo peso ao nascer, a ligadura precoce do cordão umbilical e o abandono do aleitamento materno exclusivo. O impacto da deficiência de ferro no crescimento permanece controverso, uma vez que inúmeras outras variáveis poderiam contribuir para melhora ou piora do estado nutricional. Alterações no desenvolvimento psicomotor e neurocognitivo, nos lactentes deficientes com ferro, têm sido relatadas em diversos estudos, sendo controversa a recuperação após o tratamento. Há trabalhos que demonstram queda no rendimento intelectual e nas aquisições cognitivas também no período escolar e adolescência, com reversão após a terapia marcial. Entre as medidas preventivas, a educação nutricional é a forma ideal; entretanto, frente à elevada prevalência, outras formas de prevenção devem ser também utilizadas, como a suplementação com ferro e a fortificação de alimentos com ferro.Iron deficiency anemia afflicts an estimated two billion people and iron deficiency approximately 4 billion people in developed countries and is even more common in developing countries. In Brazil, depending on the region and age, studies point to high prevalences of iron-deficiency anemia in children. The high growth speed, which requires a greater amount of iron, connected with an inadequate iron

  20. First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

    Directory of Open Access Journals (Sweden)

    Danika Nadeen Senanayake

    2015-03-01

    Full Text Available We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36 that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp, and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening.

  1. Zinc deficiency potentiates induction and progression of lingual and esophageal tumors in p53-deficient mice.

    OpenAIRE

    Fong, Louise Y. Y.; Jiang, Yubao; Farber, John L.

    2006-01-01

    KEYWORDS CLASSIFICATION: 4-Nitroquinoline-1-oxide;analysis;Animals;biosynthesis;chemically induced;Carcinogens;Cyclooxygenase 2;deficiency;Disease Models,Animal;Esophageal Neoplasms;Female;genetics;Gene Expression;Genetic Predisposition to Disease;Immunohistochemistry;Keratin-14;Keratins;Male;mechanisms of carcinogenesis;Metallothionein;Mice;Mice,Mutant Strains;pathology;Precancerous Conditions;Research;toxicity;Tongue Neoplasms;Tumor Markers,Biological;Tumor Suppressor Protein p53;Zinc. U...

  2. Iron deficiency predicts poor maternal thyroid status during pregnancy

    NARCIS (Netherlands)

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

    2007-01-01

    Context: Pregnant women are often iron deficient, and iron deficiency has adverse effects on thyroid metabolism. Impaired maternal thyroid function during pregnancy may cause neurodevelopmental delays in the offspring. Objective: Our objective was to investigate whether maternal iron status is a det

  3. prevalence of iron deficiency in children with cyanotic heart disease ...

    African Journals Online (AJOL)

    2009-12-01

    Dec 1, 2009 ... Kenya, J. N. Githang'a, MBChB, MMed (Path), Senior Lecturer, Department of Pathology and C. A. Yuko-Jowi, ... iron deficiency is recommended for these children and those found to be deficient ... high or slightly reduced compared to aged-matched .... Ferritin measurements as indicator of iron status.

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

    DEFF Research Database (Denmark)

    van Maarschalkerweerd, Marie

    leaves. The method is specific for Cu, and the condition can be diagnosed so early that it is reversible. Paper III describes a method to diagnose P deficiency in barley plants and quantify P concentration in deficient plants. It was found that the I-step in the OJIP transient, which is the outcome...

  5. Biglycan deficiency interferes with ovariectomy-induced bone loss

    DEFF Research Database (Denmark)

    Nielsen, Karina L; Allen, Matthew R; Bloomfield, Susan A

    2003-01-01

    Biglycan is a matrix proteoglycan with a possible role in bone turnover. In a 4-week study with sham-operated or OVX biglycan-deficient or wildtype mice, we show that biglycan-deficient mice are resistant to OVX-induced trabecular bone loss and that there is a gender difference in the response...

  6. A global perspective of selenium deficiency and toxicity

    Science.gov (United States)

    Selenium is an essential nutrient that has a relatively narrow margin between ingested amounts that cause deficiency and toxicosis. Both selenium deficiency and toxicosis occur in several regions in many countries throughout the world and result in substantial losses to the livestock industry. Sel...

  7. Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism.

    OpenAIRE

    Stirling, H F; Barr, D G; Kelnar, C J

    1991-01-01

    A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor. This is the first report of growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. The boy has responded well to growth hormone treatment over a period of three years.

  8. Iron deficiency predicts poor maternal thyroid status during pregnancy

    NARCIS (Netherlands)

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

    2007-01-01

    Context: Pregnant women are often iron deficient, and iron deficiency has adverse effects on thyroid metabolism. Impaired maternal thyroid function during pregnancy may cause neurodevelopmental delays in the offspring. Objective: Our objective was to investigate whether maternal iron status is a det

  9. Essential fatty acid deficiency in mice impairs lactose digestion

    NARCIS (Netherlands)

    Lukovac, S.; Los, E. L.; Stellaard, F.; Rings, E. H. H. M.; Verkade, H. J.

    2008-01-01

    Essential fatty acid (EFA) deficiency in mice induces fat malabsorption. We previously reported indications that the underlying mechanism is located at the level of the intestinal mucosa. We have investigated the effects of EFA deficiency on small intestinal morphology and function. Mice were fed an

  10. Latent manganese deficiency increases transpiration in barley (Hordeum vulgare)

    DEFF Research Database (Denmark)

    Hebbern, Christopher Alan; Laursen, Kristian Holst; Ladegaard, Anne Hald

    2009-01-01

    To investigate if latent manganese (Mn) deficiency leads to increased transpiration, barley plants were grown for 10 weeks in hydroponics with daily additions of Mn in the low nM range. The Mn-starved plants did not exhibit visual leaf symptoms of Mn deficiency, but Chl a fluorescence measurements...

  11. Iodine deficiency, thyroid function and hearing deficit: a review

    NARCIS (Netherlands)

    Boonstra, A.; MacKenzie, I.

    2013-01-01

    Iodine deficiency affects an estimated 241 million school-aged children in the world. Little is known about iodine deficiency in relation to auditory function, except for the fact that deaf-mutism is one of the features of cretinism. In the present review, we documented the scientific knowledge on

  12. Hair Loss Observed in Women and Iron Deficiency

    Directory of Open Access Journals (Sweden)

    Özlem Dicle

    2010-03-01

    Full Text Available Being a common state in the society, iron deficiency might lead to an increase in the dermatological problems associated with it. Alopecia is an important finding among the patients referring to dermatology clinics but studies on different types of alopecia and their relationship with iron deficiency states are controversial and the present data are not sufficient to draw definite conclusions.

  13. The Role of Information Deficiencies in Contract Enforcement

    NARCIS (Netherlands)

    A.M.I.B. Vandenberghe (Ann-Sophie)

    2010-01-01

    textabstractInformation deficiencies play an important role in contract enforcement. Courts frequently refuse to enforce contractual terms when one of the parties lacks information. The difficult question is where the line is drawn (or should be drawn) between information deficiencies of which the

  14. Addressing Perceived Skill Deficiencies in Student Affairs Graduate Preparation Programs

    Science.gov (United States)

    Cooper, Jay; Mitchell, Donald, Jr.; Eckerle, Kayle; Martin, Kyle

    2016-01-01

    This article explores existing literature on perceived skill deficiencies among entry-level student affairs practitioners. Through a review of recent literature, seven perceived skill deficiencies were identified, including budgeting and financial management, strategic planning, research and assessment, legal knowledge and standards, supervision,…

  15. Iron Deficiency, Anemia and Mortality in Renal Transplant Recipients

    NARCIS (Netherlands)

    Eisenga, Michele F.; Minovic, Isidor; Berger, Stefan P.; Kootstra-Ros, Jenny E.; van den Berg, Else; Riphagen, Ineke J.; Navis, Gerjan; van der Meer, Peter; Bakker, Stephan J. L.; Gaillard, Carlo A. J. M.

    2016-01-01

    Anemia, iron deficiency anemia (IDA), and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality

  16. Chronic zinc deficiency alters chick gut microbiota composition and function

    Science.gov (United States)

    Zinc (Zn) deficiency is a prevalent micronutrient insufficiency. Although the gut is a vital organ for Zn utilization, and Zn deficiency is associated with impaired intestinal permeability and a global decrease in gastrointestinal health, alterations in the gut microbial ecology of the host under co...

  17. Mutations and phenotype in isolated glycerol kinase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Walker, A.P.; Muscatelli, F.; Stafford, A.N.; Monaco, A.P. [Inst. of Molecular Medicine, Oxford (United Kingdom)] [and others

    1996-06-01

    We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely differing phenotypes. Patient 1 had a splice-site mutation causing premature termination. His general health was good despite absent GK activity, indicating that isolated GK deficiency can be silent. Patient 2 had GK deficiency and a severe phenotype involving psychomotor retardation and growth delay, bone dysplasia, and seizures, similar to the severe phenotype of one of the first described cases of GK deficiency. His younger brother, patient 3, also had GK deficiency, but so far his development has been normal. GK exon 17 was deleted in both brothers, implicating additional factors in causation of the severe phenotype of patient 2. Patient 4 had both GK deficiency with mental retardation and a GK missense mutation (D440V). Possible explanations for the phenotypic variation of these four patients include ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as has previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development. 36 refs., 4 figs., 1 tab.

  18. Functional consequences of iron deficiency in Chinese female workers.

    NARCIS (Netherlands)

    Li, R.

    1993-01-01

    Women of the reproductive age in China play a very important role in the labour force. Information on anaemia prevalence in this group is hardly available, notwithstanding the fact that iron deficiency anaemia is considered to be a major public health problem in China. Iron deficiency may cause adve

  19. Electron transfer flavoprotein deficiency: Functional and molecular aspects

    DEFF Research Database (Denmark)

    Schiff, M; Froissart, R; Olsen, Rikke Katrine Jentoft

    2006-01-01

    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a recessively inherited metabolic disorder that can be due to a deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-ubiquinone oxidoreductase). ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta...

  20. Evaluating iodine deficiency in pregnant women and young infants

    DEFF Research Database (Denmark)

    Laurberg, Peter; Andersen, S.; Bjarnadottir, R. I.;

    2007-01-01

    ) the concentration of iodine in a spot or casual urine sample cannot be used to diagnose iodine deficiency in an individual; 3) a moderate fall in the concentration of serum free T4 during pregnancy is not a sign of maternal iodine deficiency; 4) an increase in the concentration of serum thyroglobulin (Tg) during...

  1. Molecular diagnosis of intermediate and severe alpha(1)-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Dahl, Morten; Nordestgaard, B G; Lange, P;

    2001-01-01

    We tested whether intermediate (MZ, SZ) and severe (ZZ) alpha(1)-antitrypsin deficiency affects lung function in the population at large.......We tested whether intermediate (MZ, SZ) and severe (ZZ) alpha(1)-antitrypsin deficiency affects lung function in the population at large....

  2. Hypocretin deficiency develops during onset of human narcolepsy with cataplexy

    DEFF Research Database (Denmark)

    Savvidou, Andri; Knudsen, Stine; Olsson-Engman, Mia;

    2013-01-01

    Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans.......Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans....

  3. Iron deficiency: new insights into diagnosis and treatment.

    Science.gov (United States)

    Camaschella, Clara

    2015-01-01

    Iron deficiency and iron deficiency anemia are common conditions worldwide affecting especially children and young women. In developing countries, iron deficiency is caused by poor iron intake and/or parasitic infection, whereas vegetarian dietary choices, poor iron absorption, and chronic blood loss are common causes in high-income countries. Erythropoiesis stimulating agents can result in functional iron deficiency for erythropoiesis even when stores are iron-replete. Diagnosis of iron deficiency is straightforward, except when it occurs in the context of inflammatory disorders. Oral iron salts correct absolute iron deficiency in most patients, because low hepcidin levels facilitate iron absorption. Unfortunately frequent side effects limit oral iron efficacy. Intravenous iron is increasingly utilized, because currently available preparations allow rapid normalization of total body iron even with a single infusion and are effective also in functional iron deficiency and in iron deficiency associated with inflammatory disorders. The evidence is accumulating that these preparations are safe and effective. However, long-term safety issues of high doses of iron need to be further explored.

  4. Vitamin B12 deficiency: issues in nursing care.

    Science.gov (United States)

    Candela, Lori; Meiner, Sue E

    2004-08-01

    Vitamin B12 deficiency is a relatively common occurrence with potentially devastating consequences. The wide range of etiologies and symptoms makes it imperative for the nurse to use a comprehensive approach to assessing and managing the patient with vitamin B12 deficiency.

  5. Iron deficiency predicts poor maternal thyroid status during pregnancy

    NARCIS (Netherlands)

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

    2007-01-01

    Context: Pregnant women are often iron deficient, and iron deficiency has adverse effects on thyroid metabolism. Impaired maternal thyroid function during pregnancy may cause neurodevelopmental delays in the offspring. Objective: Our objective was to investigate whether maternal iron status is a

  6. Urinary iron excretion test in iron deficiency anemia.

    Directory of Open Access Journals (Sweden)

    Kimura,Ikuro

    1980-02-01

    Full Text Available A urinary iron excretion test was carried out in 22 patients with iron deficiency anemia. The iron excretion index was significantly higher in patients with intractable iron deficiency anemia compared with normal subjects and anemic patients who were responsive to iron therapy. The findings suggest that iron excretion may be a factor that modulates the response of patients to iron therapy.

  7. Iodine deficiency, thyroid function and hearing deficit: a review

    NARCIS (Netherlands)

    Boonstra, A.; MacKenzie, I.

    2013-01-01

    Iodine deficiency affects an estimated 241 million school-aged children in the world. Little is known about iodine deficiency in relation to auditory function, except for the fact that deaf-mutism is one of the features of cretinism. In the present review, we documented the scientific knowledge on t

  8. The triad of Iron deficiency anemia, hepatosplenomegaly and ...

    African Journals Online (AJOL)

    2014-12-04

    Dec 4, 2014 ... of such triad occurring in the presence of normal serum zinc levels. ... In conclusion, iron deficiency anemia occurring in the triad without zinc deficiency as seen in this case .... MCV, low MCH, low MCHC, low serum ferritin and.

  9. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

    Science.gov (United States)

    Ben-Ami, Tal; Revel-Vilk, Shoshana; Brooks, Rebecca; Shaag, Avraham; Hershfield, Michael S; Kelly, Susan J; Ganson, Nancy J; Kfir-Erenfeld, Shlomit; Weintraub, Michael; Elpeleg, Orly; Berkun, Yackov; Stepensky, Polina

    2016-10-01

    Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Acute Psychosis: A Presentation of Cyanocobalamin Deficiency Megaloblastic Anemia

    Science.gov (United States)

    Tripathi, A. K.; Himanshu, D.

    2010-01-01

    Cyanocobalamin deficiency is not rare in India. Patients present with megaloblastic anemia, pancytopenia and sometimes neuropsychiatric manifestations. Subacute combined degeneration of the cord, peripheral neuropathy, dementia, psychotic depression and paranoid schizophrenia are well reported. We are reporting a case of cyanocobalamine deficiency anemia who presented with acute psychosis which readily reversed on cyanocobalamin replacement. PMID:21886392

  11. Folate deficiency in women of reproductive age in nine ...

    African Journals Online (AJOL)

    2009-10-13

    Oct 13, 2009 ... be from 50% to 82%.5,6 Fortification of grains with folic acid has ... In logistic regression analysis, only low plant food diets (p = 0.001) and iron deficiency ..... enhance our ability to distinguish folate deficiency from vitamin B12.

  12. 45 CFR 1304.60 - Deficiencies and quality improvement plans.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 4 2010-10-01 2010-10-01 false Deficiencies and quality improvement plans. 1304... must correct the deficiency either immediately or pursuant to a Quality Improvement Plan. (c) An Early... Improvement Plan must submit to the responsible HHS official a Quality Improvement Plan specifying, for each...

  13. Iron Deficiency, Anemia and Mortality in Renal Transplant Recipients

    NARCIS (Netherlands)

    Eisenga, Michele F.; Minovic, Isidor; Berger, Stefan P.; Kootstra-Ros, Jenny E.; van den Berg, Else; Riphagen, Ineke J.; Navis, Gerjan; van der Meer, Peter; Bakker, Stephan J. L.; Gaillard, Carlo A. J. M.

    2016-01-01

    Anemia, iron deficiency anemia (IDA), and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality

  14. Iodine deficiency, thyroid function and hearing deficit: a review

    NARCIS (Netherlands)

    Boonstra, A.; MacKenzie, I.

    2013-01-01

    Iodine deficiency affects an estimated 241 million school-aged children in the world. Little is known about iodine deficiency in relation to auditory function, except for the fact that deaf-mutism is one of the features of cretinism. In the present review, we documented the scientific knowledge on t

  15. Thyroid ultrasonography in congenital isolated thyroid stimulating hormone deficiency.

    OpenAIRE

    Wakamoto, H; Miyazaki, M.; Tatsumi, K; Amino, N

    1995-01-01

    The effects of thyroid stimulating hormone (TSH) deficiency on thyroid development was examined using ultrasonography in a child with congenital isolated TSH deficiency. Ultrasound revealed the thyroid gland was one sixth normal volume, suggesting that TSH plays an important part in thyroid growth, but not a critical role in differentiation.

  16. 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.

  17. Iron Deficiency, Anemia and Mortality in Renal Transplant Recipients

    NARCIS (Netherlands)

    Eisenga, Michele F; Minovic, Isidor; Berger, Stefan P; Kootstra-Ros, Jenny E; van den Berg, Else; Riphagen, Ineke J; Navis, Gerjan; van der Meer, Peter; Bakker, Stephan J L; Gaillard, Carlo A J M

    2016-01-01

    Anemia, iron deficiency anemia (IDA) and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality i

  18. Behavior of Infants with Iron-Deficiency Anemia.

    Science.gov (United States)

    Lozoff, Betsy; And Others

    1998-01-01

    Compared behavior of 52 Costa Rican 12- to 23-month-olds with iron-deficiency anemia to that of 139 infants with better iron status. Found that iron-deficient infants maintained closer contact with caregivers; showed less pleasure and playfulness; were more wary, hesitant, and easily tired; made fewer attempts at test items; and attended less to…

  19. The Role of Information Deficiencies in Contract Enforcement

    NARCIS (Netherlands)

    A.M.I.B. Vandenberghe (Ann-Sophie)

    2010-01-01

    textabstractInformation deficiencies play an important role in contract enforcement. Courts frequently refuse to enforce contractual terms when one of the parties lacks information. The difficult question is where the line is drawn (or should be drawn) between information deficiencies of which the l

  20. 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 co...

  1. 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

  2. Hematopoietic sphingosine 1-phosphate lyase deficiency decreases atherosclerotic lesion development in LDL-receptor deficient mice.

    Directory of Open Access Journals (Sweden)

    Martine Bot

    Full Text Available AIMS: Altered sphingosine 1-phosphate (S1P homeostasis and signaling is implicated in various inflammatory diseases including atherosclerosis. As S1P levels are tightly controlled by S1P lyase, we investigated the impact of hematopoietic S1P lyase (Sgpl1(-/- deficiency on leukocyte subsets relevant to atherosclerosis. METHODS AND RESULTS: LDL receptor deficient mice that were transplanted with Sgpl1(-/- bone marrow showed disrupted S1P gradients translating into lymphopenia and abrogated lymphocyte mitogenic and cytokine response as compared to controls. Remarkably however, Sgpl1(-/- chimeras displayed mild monocytosis, due to impeded stromal retention and myelopoiesis, and plasma cytokine and macrophage expression patterns, that were largely compatible with classical macrophage activation. Collectively these two phenotypic features of Sgpl1 deficiency culminated in diminished atherogenic response. CONCLUSIONS: Here we not only firmly establish the critical role of hematopoietic S1P lyase in controlling S1P levels and T cell trafficking in blood and lymphoid tissue, but also identify leukocyte Sgpl1 as critical factor in monocyte macrophage differentiation and function. Its, partly counterbalancing, pro- and anti-inflammatory activity spectrum imply that intervention in S1P lyase function in inflammatory disorders such as atherosclerosis should be considered with caution.

  3. Iodine deficiency as a cause of brain damage.

    Science.gov (United States)

    Delange, F

    2001-04-01

    This editorial reviews the impact of iodine deficiency (1) on thyroid function in pregnant women and neonates and (2) on the neurointellectual development of infants and children. All degrees of iodine deficiency (mild: iodine intake of 50-99 microg/day, moderate: 20-49 microg/day, and severe: consequence. Maternal hypothyroxinaemia during early pregnancy is a key factor in the development of the neurological damage in the cretin. Selenium deficiency combined with iodine deficiency partly prevents the neurological damage but precipitates severe hypothyroidism in cretins. Iodine deficiency results in a global loss of 10-15 IQ points at a population level and constitutes the world's greatest single cause of preventable brain damage and mental retardation.

  4. [Iron deficiency in elderly patients: use of biomarkers].

    Science.gov (United States)

    Le Petitcorps, Hélène; Monti, Alexandra; Pautas, Éric

    2015-01-01

    Iron deficiency, due to blood loss or malabsorption, is commonly observed in geriatric practice. In elderly people, association of inflammatory diseases to iron loss makes diagnosis of absolute iron deficiency sometimes difficult. In case of inflammation, the interpretation of usual biomarkers of iron deficiency (serum ferritin, transferrin saturation, serum iron) may be difficult. The recent discovery of the role of hepcidine in the iron homeostasis, in physiological and pathological situation, contributes to better understanding of the iron regulation. The aim of this short paper is to underline some specificities of elderly iron physiology, to explain hepcidine's role in physiological and pathological situations and to propose a diagnostic approach for a better interpretation of usual biomarkers, in order to differentiate absolute iron deficiency and functional iron deficiency.

  5. 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 the disorder are becoming clear, the molecular effects are not well defined. Therefore, for further elucidating the effects of ETHE1-deficiency, we performed a large scale quantitative proteomics study on liver tissue from ETHE1-deficient mice. Our results demonstrated a clear link between ETHE1-deficiency...... and redox active proteins, as reflected by down-regulation of several proteins related to oxidation-reduction, such as different dehydrogenases and cytochrome P450 (CYP450) members. Furthermore, the protein data indicated impact of the ETHE1-deficiency on metabolic reprogramming through up...

  6. Carbohydrate deficient transferrin (CDT) in alcoholic cirrhosis: a kinetic study

    DEFF Research Database (Denmark)

    Henriksen, Jens Henrik Sahl; Grønbaek, M; Møller, Søren

    1997-01-01

    concentration than controls with a low alcohol intake (detected between carbohydrate deficient transferrin in artery and liver vein or artery and renal vein, either in patients with alcoholic cirrhosis (n = 11) or in controls (n = 8......BACKGROUND/AIMS: Carbohydrate deficient transferrin has been introduced as a marker of excessive alcohol intake. The present study was undertaken in order to measure the circulating level of carbohydrate deficient transferrin in patients with alcoholic cirrhosis and to assess arteriovenous kinetics...... of carbohydrate deficient transferrin in liver and kidney. METHODS/RESULTS: The median value of serum carbohydrate deficient transferrin was 16.0 U/l in patients with alcoholic cirrhosis (n = 41), and this value was not significantly different from that of a normal control group (median 17.4 U/l, n = 55, ns...

  7. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

    Science.gov (United States)

    Blumenschine, Michelle; Montes, Jacqueline; Rao, Ashwini K; Engelstad, Kristin; De Vivo, Darryl C

    2016-11-01

    Anticipating potential therapies for Glut 1 deficiency syndrome (Glut1DS) emphasizes the need for effective clinical outcome measures. The 6-minute walk test is a well-established outcome measure that evaluates walking ability in neurological diseases. Twenty-one children with Glut 1 deficiency syndrome and 21 controls performed the 6-minute walk test. Fatigue was determined by comparing distance walked in the first and sixth minutes. Gait was analyzed by stride length, velocity, cadence, base of support, and percentage time in double support. Independent sample t-tests examined differences between group. Repeated-measures analysis of variance evaluated gait parameters over time. Glut 1 deficiency syndrome patients walked less (P Glut 1 deficiency syndrome patients have impaired motor performance, walk more slowly, and have poor balance. The 6-minute walk test with gait analysis may serve as a useful outcome measure in clinical trials in Glut 1 deficiency syndrome.

  8. Three distinct cases of copper deficiency in hospitalized pediatric patients.

    Science.gov (United States)

    Dembinski, Karolina; Gargasz, Anne Elizabeth; Dabrow, Sharon; Rodriguez, Lisa

    2012-08-01

    Although copper deficiency is a rare occurrence in the developed world, attention should be given to the proper supplementation of minerals to at-risk pediatric patients. This study presents 3 distinct cases of copper deficiency in hospitalized patients aged 14 months, 6 years, and 12 years. Two patients had short bowel syndrome, requiring prolonged parenteral nutrition or complex intravenous fluid supplementation. The third patient was severely malnourished. Copper deficiency manifested in all of our patients as either microcytic anemia or pancytopenia with myelodysplastic syndrome. Copper deficiency is an important diagnosis to be considered in patients with prematurity, parenteral nutrition dependency, malabsorption, and/or those with malnutrition. More studies are needed to establish appropriate amounts of copper supplementation to replenish copper stores in deficient patients.

  9. Replication fork stability confers chemoresistance in BRCA-deficient cells

    DEFF Research Database (Denmark)

    Chaudhuri, Arnab Ray; Callen, Elsa; Ding, Xia;

    2016-01-01

    Cells deficient in the Brca1 and Brca2 genes have reduced capacity to repair DNA double-strand breaks by homologous recombination and consequently are hypersensitive to DNA-damaging agents, including cisplatin and poly(ADP-ribose) polymerase (PARP) inhibitors. Here we show that loss of the MLL3....../4 complex protein, PTIP, protects Brca1/2-deficient cells from DNA damage and rescues the lethality of Brca2-deficient embryonic stem cells. However, PTIP deficiency does not restore homologous recombination activity at double-strand breaks. Instead, its absence inhibits the recruitment of the MRE11...... nuclease to stalled replication forks, which in turn protects nascent DNA strands from extensive degradation. More generally, acquisition of PARP inhibitors and cisplatin resistance is associated with replication fork protection in Brca2-deficient tumour cells that do not develop Brca2 reversion mutations...

  10. Iron deficiency anemia and megaloblastic anemia in obese patients.

    Science.gov (United States)

    Arshad, Mahmoud; Jaberian, Sara; Pazouki, Abdolreza; Riazi, Sajedeh; Rangraz, Maryam Aghababa; Mokhber, Somayyeh

    2017-03-01

    The association between obesity and different types of anemia remained uncertain. The present study aimed to assess the relation between obesity parameters and the occurrence of iron deficiency anemia and also megaloblastic anemia among Iranian population. This cross-sectional study was performed on 1252 patients with morbid obesity that randomly selected from all patients referred to Clinic of obesity at Rasoul-e-Akram Hospital in 2014. The morbid obesity was defined according to the guideline as body mass index (BMI) equal to or higher than 40 kg/m2. Various laboratory parameters including serum levels of hemoglobin, iron, ferritin, folic acid, and vitamin B12 were assessed using the standard laboratory techniques. BMI was adversely associated with serum vitamin B12, but not associated with other hematologic parameters. The overall prevalence of iron deficiency anemia was 9.8%. The prevalence of iron deficiency anemia was independent to patients' age and also to body mass index. The prevalence of vitamin B12 deficiency was totally 20.9%. According to the multivariable logistic regression model, no association was revealed between BMI and the occurrence of iron deficiency anemia adjusting gender and age. A similar regression model showed that higher BMI could predict occurrence of vitamin B12 deficiency in morbid obese patients. Although iron deficiency is a common finding among obese patients, vitamin B12 deficiency is more frequent so about one-fifth of these patients suffer vitamin B12 deficiency. In fact, the exacerbation of obesity can result in exacerbation of vitamin B12 deficiency.

  11. Causas genéticas de deficiência de ferro Genetic causes for iron deficiency

    Directory of Open Access Journals (Sweden)

    Sara Teresinha O. Saad

    2010-06-01

    Full Text Available As causas genéticas de deficiência de ferro, real ou funcional, ocorrem por defeitos em muitas proteínas envolvidas na absorção e metabolismo de ferro. Neste capítulo descreveremos sucintamente causas genéticas de carência de ferro para a síntese de hemoglobina, que cursa então com anemia microcítica e hipocrômica. Ressalto que estas são alterações raras, com poucas descrições na literatura. Em alguns casos, o ferro funcional não está disponível para os eritroblastos sintetizarem hemoglobina, ou o eritroblasto é incapaz de captar ferro da circulação, mas o ferro está acumulado em tecidos ou nas mitocôndrias. Nos últimos anos, várias descobertas, principalmente oriundas de descrições em humanos ou de modelos animais, ajudaram a elucidar a implicação dos componentes do metabolismo do ferro na deficiência de ferro hereditária, que afetam desde a absorção intestinal até sua inclusão final no heme.The genetic causes of iron deficiency, real or functional, occur due to defects in many proteins involved in the absorption and metabolism of iron. In this chapter we briefly describe the genetic causes of iron deficiency in the synthesis of hemoglobin, resulting in hypochromic or microcytic anemia. These alterations are rare with few descriptions in the literature. In some cases, functional iron is not available for erythroblasts to synthesis hemoglobin, or erythroblasts may be incapable of capturing iron from the circulation although iron is accumulated in tissues and mitochondrias. Many discoveries have been made over the last few years, mainly resulting from the description of human or animal models, which have elucidated the implications of the components in iron metabolism in hereditary iron deficiency involving all processes from intestinal absorption to the final inclusion into heme.

  12. Deficiência androgênica na mulher Androgen deficiency in women

    Directory of Open Access Journals (Sweden)

    Helena Proni Fonseca

    2010-01-01

    Full Text Available As evidências sugerem que a deficiência androgênica na mulher exibe como principal manifestação clínica a disfunção sexual, especialmente a queda da libido. Entretanto, outros fatores podem também estar implicados na gênese da disfunção sexual, como o relacionamento interpessoal, os estressores sociais, o sedentarismo e o próprio fator masculino. A prevalência da disfunção sexual feminina oscila entre 9% e 43% e recentemente muitos estudos têm mostrado que a reposição com androgênios não só melhora o desempenho sexual, mas também os distúrbios do humor e sintomas vasomotores. Por isso, o profissional de saúde deve sempre incluir no diagnóstico diferencial da disfunção sexual a Síndrome de Deficiência Androgênica, mesmo em mulheres com concentrações séricas normais de estrogênios. O presente artigo tem como objetivo revisar os aspectos práticos da Síndrome de Deficiência Androgênica, enfocando especialmente o diagnóstico e tratamento. Para tanto, nos valemos da análise de 105 artigos publicados em revistas indexadas no PUBMED nos últimos 51 anos (até maio de 2010, incluindo consensos e opiniões de especialistas. Como conclusão, a Síndrome de Deficiência Androgênica na mulher é negligenciada, existindo ainda muitas controvérsias quanto ao seu diagnóstico e terapêutica, especialmente no tocante à escolha do androgênio, a via de administração e o tempo de duração de uso.The evidences suggest that androgen deficiency in women induces sexual dysfunction as the main clinical manifestation, especially reduction of libido. However, other factors may be involved in the disease genesis, such as interpersonal relationships, social stressors, sedentarism and the partner. Prevalence of sexual problems among women ranges from nine to 43% and, recently, many studies have reported that androgens are beneficial not only for the sexual function of women, but for mood disorders and vasomotor symptoms. That

  13. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Science.gov (United States)

    ... due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Enable Javascript ... PDF Open All Close All Description Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is ...

  14. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those

  15. On-demand anakinra treatment is effective in mevalonate kinase deficiency

    NARCIS (Netherlands)

    Bodar, E.J.; Kuijk, L.M.; Drenth, J.P.H.; Meer, J.W. van der; Simon, A.; Frenkel, J.

    2011-01-01

    BACKGROUND: Mevalonate kinase deficiency (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of fever and inflammation. Severe enzyme deficiency results in mevalonic aciduria (MA) and milder deficiency in hyperimmunoglobulin D syndrome (HIDS). Treatment remains a challenge. O

  16. Homocystinuria due to cystathionine beta synthase deficiency

    Directory of Open Access Journals (Sweden)

    Rao T

    2008-01-01

    Full Text Available A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 µmol/L (normal levels: 5.90-16µmol/L. Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan′s syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.

  17. Evolutionary hypothesis of the Mevalonate Kinase Deficiency.

    Science.gov (United States)

    Vuch, J; Marcuzzi, A; Bianco, A M; Tommasini, A; Zanin, V; Crovella, S

    2013-01-01

    Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries. MKD is due to mutations in the second enzyme of mevalonate pathway (mevalonate kinase, MK/MVK) which results in reduced enzymatic activity and in the consequent shortage of downstream compounds. In most severe cases the deregulation of mevalonate pathway is associated with a decrease in serum cholesterol. More than 100 pathological mutations have been described in the MVK gene so far, and a founder effect has been hypothesized as responsible for the diffusion of the most frequent disease-associated mutations. In the acute phase of disease, patients affected with MKD present low cholesterol levels comparable to their basal physiologic conditions, already characterized by lower cholesterol levels when compared to healthy individuals. Low cholesterol levels are widely known to correlate with the reduction of cardiovascular events. We hypothesize a selective advantage for heterozygote carriers of the most frequent MVK mutations in those countries where the diet is characterized by high consumption of saturated animal fats rich in cholesterol. This could explain the maintenance in North European population of the main mutations leading to MKD and the distribution world-wide of these mutations that followed the migrations of North European populations.

  18. Putative modifier genes in mevalonate kinase deficiency.

    Science.gov (United States)

    Marcuzzi, Annalisa; Vozzi, Diego; Girardelli, Martina; Tricarico, Paola Maura; Knowles, Alessandra; Crovella, Sergio; Vuch, Josef; Tommasini, Alberto; Piscianz, Elisa; Bianco, Anna Monica

    2016-04-01

    Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype. The identification of novel target genes may explain non‑homogeneous genotype‑phenotype correlations, and provide evidence in support of the hypothesis that novel regulatory genes predispose or amplify deregulation of the mevalonate pathway in this orphan disease. In the present study, DNA samples were obtained from five patients with MKD, which were then analyzed using whole exome sequencing. A missense variation in the PEX11γ gene was observed in homozygosis in P2, possibly correlating with visual blurring. The UNG rare gene variant was detected in homozygosis in P5, without correlating with a specific clinical phenotype. A number of other variants were found in the five analyzed DNA samples from the MKD patients, however no correlation with the phenotype was established. The results of the presents study suggested that further analysis, using next generation sequencing approaches, is required on a larger sample size of patients with MKD, who share the same MVK mutations and exhibit 'extreme' clinical phenotypes. As MVK mutations may be associated with MKD, the identification of specific modifier genes may assist in providing an earlier diagnosis.

  19. NCOA4 Deficiency Impairs Systemic Iron Homeostasis

    Directory of Open Access Journals (Sweden)

    Roberto Bellelli

    2016-01-01

    Full Text Available The cargo receptor NCOA4 mediates autophagic ferritin degradation. Here we show that NCOA4 deficiency in a knockout mouse model causes iron accumulation in the liver and spleen, increased levels of transferrin saturation, serum ferritin, and liver hepcidin, and decreased levels of duodenal ferroportin. Despite signs of iron overload, NCOA4-null mice had mild microcytic hypochromic anemia. Under an iron-deprived diet (2–3 mg/kg, mice failed to release iron from ferritin storage and developed severe microcytic hypochromic anemia and ineffective erythropoiesis associated with increased erythropoietin levels. When fed an iron-enriched diet (2 g/kg, mice died prematurely and showed signs of liver damage. Ferritin accumulated in primary embryonic fibroblasts from NCOA4-null mice consequent to impaired autophagic targeting. Adoptive expression of the NCOA4 COOH terminus (aa 239–614 restored this function. In conclusion, NCOA4 prevents iron accumulation and ensures efficient erythropoiesis, playing a central role in balancing iron levels in vivo.

  20. Gene therapy for primary adaptive immune deficiencies.

    Science.gov (United States)

    Fischer, Alain; Hacein-Bey-Abina, Salima; Cavazzana-Calvo, Marina

    2011-06-01

    Gene therapy has become an option for the treatment of 2 forms of severe combined immunodeficiency (SCID): X-linked SCID and adenosine deaminase deficiency. The results of clinical trials initiated more than 10 years ago testify to sustained and reproducible correction of the underlying T-cell immunodeficiency. Successful treatment is based on the selective advantage conferred on T-cell precursors through their expression of the therapeutic transgene. However, "first-generation" retroviral vectors also caused leukemia in some patients with X-linked SCID because of the constructs' tendency to insert into active genes (eg, proto-oncogenes) in progenitor cells and transactivate an oncogene through a viral element in the long terminal repeat. These elements have been deleted from the vectors now in use. Together with the use of lentiviral vectors (which are more potent for transducing stem cells), these advances should provide a basis for the safe and effective extension of gene therapy's indications in the field of primary immunodeficiencies. Nevertheless, this extension will have to be proved by examining the results of the ongoing clinical trials.