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Sample records for a1at deficiency compared

  1. Progression of Emphysema Evaluated by MRI Using Hyperpolarized 3He (HP 3He Measurements in Patients with Alpha-1-Antitrypsin (A1AT) Deficiency Compared with CT and Lung Function Tests

    International Nuclear Information System (INIS)

    Background: The progression of emphysema is traditionally measured by pulmonary function test, with forced expiratory volume in 1 s (FEV1) being the most accepted and used measurement. However, FEV1 is insensitive in detecting mild/slow progression of emphysema because of low reproducibility as compared to yearly decline. Purpose: To investigate the progression of emphysema over a period of 2 years using diffusion-weighted hyperpolarized (HP) 3He magnetic resonance imaging (MRI) in patients with alpha-1-antitrypsin (A1AT) deficiency. Material and Methods: Nine patients with severe A1AT deficiency were studied over a period of 2 years (baseline, year 1, and year 2) with HP 3He MRI using apparent diffusion coefficient (ADC), lung function tests (FEV1 and carbon monoxide lung diffusion capacity [DL,CO]), and computed tomography (CT) using densitometric parameters (15th percentile density [CT-PD15] and relative area of emphysema below -910 HU [CT-RA-910]). Results: Seven patients were scanned three times, one patient two times, and one patient only at baseline. The mean increase in ADC values from first to last HP 3He MR scanning was 3.8% (0.014 cm2/s [SD 0.024 cm2/s]; not significant). The time trends for FEV1, DL,CO, CT-PD15, and CT-RA-910 were all statistically significant. We found a high correlation between ADC and DL,CO (P3He MRI for monitoring the progression of emphysema. However, in the future, larger studies are needed to confirm these preliminary results

  2. Progression of Emphysema Evaluated by MRI Using Hyperpolarized 3He (HP 3He) Measurements in Patients with Alpha-1-Antitrypsin (A1AT) Deficiency Compared with CT and Lung Function Tests

    Energy Technology Data Exchange (ETDEWEB)

    Stavngaard, T.; Vejby Soegaard, L. (Danish Research Center for Magnetic Resonance, Copenhagen Univ. Hospital Hvidovre, Hvidovre (Denmark)); Batz, M. (Inst. of Physics, Johannes Gutenberg Univ., Mainz (Germany)); Schreiber, L.M. (Dept. of Interventional and Diagnostic Radiology, Johannes Gutenberg Univ. Medical School, Mainz (Germany)); Dirksen, A. (Dept. of Respiratory Medicine, Gentofte Hospital, Univ. of Copenhagen, Copenhagen (Denmark))

    2009-11-15

    Background: The progression of emphysema is traditionally measured by pulmonary function test, with forced expiratory volume in 1 s (FEV1) being the most accepted and used measurement. However, FEV1 is insensitive in detecting mild/slow progression of emphysema because of low reproducibility as compared to yearly decline. Purpose: To investigate the progression of emphysema over a period of 2 years using diffusion-weighted hyperpolarized (HP) 3He magnetic resonance imaging (MRI) in patients with alpha-1-antitrypsin (A1AT) deficiency. Material and Methods: Nine patients with severe A1AT deficiency were studied over a period of 2 years (baseline, year 1, and year 2) with HP 3He MRI using apparent diffusion coefficient (ADC), lung function tests (FEV1 and carbon monoxide lung diffusion capacity [DL,CO]), and computed tomography (CT) using densitometric parameters (15th percentile density [CT-PD15] and relative area of emphysema below -910 HU [CT-RA-910]). Results: Seven patients were scanned three times, one patient two times, and one patient only at baseline. The mean increase in ADC values from first to last HP 3He MR scanning was 3.8% (0.014 cm2/s [SD 0.024 cm2/s]; not significant). The time trends for FEV1, DL,CO, CT-PD15, and CT-RA-910 were all statistically significant. We found a high correlation between ADC and DL,CO (P<0.001). Conclusion: This pilot study indicates the possible use of nonionizing HP 3He MRI for monitoring the progression of emphysema. However, in the future, larger studies are needed to confirm these preliminary results

  3. Deficiencies

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    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,...

  4. COMPARATIVE STUDY OF IRON SUPPLEMENTS IN SOUTH INDIAN ANTENATAL WOMEN WITH IRON DEFICIENCY ANEMIA

    OpenAIRE

    Geetha; Rageshwari; Parvathavarthini; Sowmia; Priestly Vivekkumar; Simhadri V. S. D. N. A; Umamageswari

    2014-01-01

    BACKGROUND: Iron deficiency anemia is the most common nutritional disorder in the world. It is a major public health problem particularly among pregnant women with adverse effects on the mother and the new born. Iron supplementation is universally recommended to correct or prevent iron deficiency. AIMS & OBJECTIVE: The present study was conducted to compare the efficacy and tolerability of three oral iron preparations in anemic pregnant women of more than 14 weeks of gesta...

  5. COMPARATIVE STUDY OF IRON SUPPLEMENTS IN SOUTH INDIAN ANTENATAL WOMEN WITH IRON DEFICIENCY ANEMIA

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    Geetha

    2014-09-01

    Full Text Available BACKGROUND: Iron deficiency anemia is the most common nutritional disorder in the world. It is a major public health problem particularly among pregnant women with adverse effects on the mother and the new born. Iron supplementation is universally recommended to correct or prevent iron deficiency. AIMS & OBJECTIVE: The present study was conducted to compare the efficacy and tolerability of three oral iron preparations in anemic pregnant women of more than 14 weeks of gestation. MATERIALS AND METHODS: Randomized Control trial, done at Tagore Medical College and Hospital, Chennai. 60 antenatal women were selected; they were divided into three groups, 20 in each group. They were treated with Carbonyl iron, ferrous sulphate and ferrous fumarate. Hemoglobin estimation was done at 0 day, 30th and 60th day. Adverse effects were monitored. RESULTS: Data analysis showed an increase in haemoglobin levels in all three groups after the 30th day (p<0.05. Carbonyl iron showed highly significant increase (p<0.05 in the haemoglobin level as compared to the other two drugs at the end of the 60th day. CONCLUSION: Carbonyl iron is superior in efficacy when compared to ferrous sulphate and ferrous fumarate and is better tolerated. So carbonyl iron is safe in pregnancy and can be given as a supplement to treat iron deficiency anemia during pregnancy.

  6. Comparative study of Zn deficiency in L. sativa and B. oleracea plants: NH4(+) assimilation and nitrogen derived protective compounds.

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    Navarro-León, Eloy; Barrameda-Medina, Yurena; Lentini, Marco; Esposito, Sergio; Ruiz, Juan M; Blasco, Begoña

    2016-07-01

    Zinc (Zn) deficiency is a major problem in agricultural crops of many world regions. N metabolism plays an essential role in plants and changes in their availability and their metabolism could seriously affect crop productivity. The main objective of the present work was to perform a comparative analysis of different strategies against Zn deficiency between two plant species of great agronomic interest such as Lactuca sativa cv. Phillipus and Brassica oleracea cv. Bronco. For this, both species were grown in hydroponic culture with different Zn doses: 10μM Zn as control and 0.01μM Zn as deficiency treatment. Zn deficiency treatment decreased foliar Zn concentration, although in greater extent in B. oleracea plants, and caused similar biomass reduction in both species. Zn deficiency negatively affected NO3(-) reduction and NH4(+) assimilation and enhanced photorespiration in both species. Pro and GB concentrations were reduced in L. sativa but they were increased in B. oleracea. Finally, the AAs profile changed in both species, highlighting a great increase in glycine (Gly) concentration in L. sativa plants. We conclude that L. sativa would be more suitable than B. oleracea for growing in soils with low availability of Zn since it is able to accumulate a higher Zn concentration in leaves with similar biomass reduction. However, B. oleracea is able to accumulate N derived protective compounds to cope with Zn deficiency stress. PMID:27181942

  7. Comparative 13C Metabolic Flux Analysis of Pyruvate Dehydrogenase Complex-Deficient, l-Valine-Producing Corynebacterium glutamicum▿†

    OpenAIRE

    Bartek, Tobias; Blombach, Bastian; Lang, Siegmund; Eikmanns, Bernhard J.; Wiechert, Wolfgang; Oldiges, Marco; Nöh, Katharina; Noack, Stephan

    2011-01-01

    l-Valine can be formed successfully using C. glutamicum strains missing an active pyruvate dehydrogenase enzyme complex (PDHC). Wild-type C. glutamicum and four PDHC-deficient strains were compared by 13C metabolic flux analysis, especially focusing on the split ratio between glycolysis and the pentose phosphate pathway (PPP). Compared to the wild type, showing a carbon flux of 69% ± 14% through the PPP, a strong increase in the PPP flux was observed in PDHC-deficient strains with a maximum o...

  8. Iron Deficiency and Iron Deficiency Anemia in Children With First Attack of Seizure and on Healthy Control Group: A Comparative Study

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    Razieh FALLAH

    2014-07-01

    Full Text Available How to Cite This Article: Fallah R, Tirandazi F, Ferdosian F, Fadavi N. Iron Deficiency And Iron Deficiency Anemia in Children With First Attack of Seizure and on Healthy Control Group : A Comparative Study. Iran J Child Neurol. 2014 Summer;8(3: 18-23. AbstractObjectiveSeizures are the most common pediatric neurologic problem. Research of the association between iron deficiency and seizures has shown conflicting results.This study evaluates iron status of children with a first seizure attack (febrile seizure (FS or first unprovoked afebrile seizure (FUS and healthy control group.Materials & MethodsIn a cross sectional case control study, iron status of 6–60 month year old admitted children with first seizure to Shahid Sadoughi Hospital from August 2011–December 2012 were evaluated and compared with healthy control children that were referred to primary health care center of Azadshar, Yazd, Iran.Results150 children were compared in three equal (FS, afebrile seizure, and control groups.Hemoglobin levels in FUS (11.39 ± 1.07 g/dl and FS (11.46 ± 1.18 g/dl were lower than the control group (11.9 ± 0.89 g/dl group.Serum iron levels in FS (38.52 ± 11.38 μg/dL and FUS (42.68 ± 14.76 μg/dL were lower than the control group (54.32 ± 13.46 μg/dL.Serum ferritin level in FUS (46.21 ± 27.63 ng/mL and FS (48.91 ±22.96 ng/mL was lower than the control group (75.13 ± 35.57 ng/mL.Iron deficiency (48% in FS, 44% in FUS and 28% in control group and iron deficiency anemia (26% in FUS, 22% in FS, and 10% in healthy children was more frequent in children with seizures.ConclusionIron status should be evaluated in children with a first attack of febrile or afebrile seizures.ReferencesMikati MA. Seizures in Childhood. Kliegman RM, Stanton BF, Schor NF, St. Geme JW, Behrman RE. Nelson Textbook of Pediatrics. Philadelphia, Saunders 2011; 19th edition, Pp: 2013-2017.Yadav D, Chandra J. Iron deficiency: beyond anemia. Indian J Pediatr 2011

  9. Efficacy and tolerability of 16% subcutaneous immunoglobulin compared with 20% subcutaneous immunoglobulin in primary antibody deficiency.

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    Niebur, H B; Duff, C M; Shear, G F; Nguyen, D; Alberdi, T K; Dorsey, M J; Sleasman, J W

    2015-09-01

    Multiple subcutaneous immunoglobulin (SCIG) products are available to treat primary antibody deficiency (PAD). The efficacy and tolerability of 16% SCIG (Vivaglobin(®) ) was compared with 20% SCIG (Hizentra(®) ) in PAD subjects. The study was a prospective, single-centre, open-label study of PAD subjects transitioning Vivaglobin to equivalent Hizentra doses, rounded to the nearest vial size. Comparisons included immunoglobulin (Ig)G levels; tetanus, varicella and Streptococcus pneumoniae titres; adverse events (AEs), annual infection rate and quality of life during 8 weeks of Vivaglobin and 24 weeks of Hizentra. Thirty-two subjects (aged 2-75 years) participated. Rounding to the nearest Hizentra vial size resulted in a 12·8% (± 2·9%) increase in SCIG dose. Median immunoglobulin (Ig)G level following 8 weeks of Vivaglobin was similar to 24 weeks of Hizentra (1050 versus 1035 mg/dl, respectively; P = 0·77). Both products had similar protective titres to tetanus, varicella and serotypes of S. pneumoniae, which were variable but well above protective levels. After 12 weeks of Hizentra, subjects reported fewer local site reactions compared with Vivaglobin. Switching products resulted in increased systemic AEs in some subjects but, overall, not significantly higher than during Vivaglobin treatment. Average infusion time decreased from 104·7 min (3·3 sites) with Vivaglobin to 70·7 min (2·2 sites) with Hizentra (P = 0·0005). Acute serious bacterial infections were similar. Treatment satisfaction was superior with Hizentra. Hizentra and Vivaglobin have similar pharmacokinetics and efficacy. Although transition to a different SCIG product initially increased AEs, Hizentra is well tolerated and can be infused more rapidly and with fewer sites compared to Vivaglobin. PMID:25761372

  10. Efficacy and tolerability of 16% subcutaneous immunoglobulin compared with 20% subcutaneous immunoglobulin in primary antibody deficiency.

    Science.gov (United States)

    Niebur, H B; Duff, C M; Shear, G F; Nguyen, D; Alberdi, T K; Dorsey, M J; Sleasman, J W

    2015-09-01

    Multiple subcutaneous immunoglobulin (SCIG) products are available to treat primary antibody deficiency (PAD). The efficacy and tolerability of 16% SCIG (Vivaglobin(®) ) was compared with 20% SCIG (Hizentra(®) ) in PAD subjects. The study was a prospective, single-centre, open-label study of PAD subjects transitioning Vivaglobin to equivalent Hizentra doses, rounded to the nearest vial size. Comparisons included immunoglobulin (Ig)G levels; tetanus, varicella and Streptococcus pneumoniae titres; adverse events (AEs), annual infection rate and quality of life during 8 weeks of Vivaglobin and 24 weeks of Hizentra. Thirty-two subjects (aged 2-75 years) participated. Rounding to the nearest Hizentra vial size resulted in a 12·8% (± 2·9%) increase in SCIG dose. Median immunoglobulin (Ig)G level following 8 weeks of Vivaglobin was similar to 24 weeks of Hizentra (1050 versus 1035 mg/dl, respectively; P = 0·77). Both products had similar protective titres to tetanus, varicella and serotypes of S. pneumoniae, which were variable but well above protective levels. After 12 weeks of Hizentra, subjects reported fewer local site reactions compared with Vivaglobin. Switching products resulted in increased systemic AEs in some subjects but, overall, not significantly higher than during Vivaglobin treatment. Average infusion time decreased from 104·7 min (3·3 sites) with Vivaglobin to 70·7 min (2·2 sites) with Hizentra (P = 0·0005). Acute serious bacterial infections were similar. Treatment satisfaction was superior with Hizentra. Hizentra and Vivaglobin have similar pharmacokinetics and efficacy. Although transition to a different SCIG product initially increased AEs, Hizentra is well tolerated and can be infused more rapidly and with fewer sites compared to Vivaglobin.

  11. FBG1 Is the Final Arbitrator of A1AT-Z Degradation.

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    Wen, John H; Wen, Hsiang; Gibson-Corley, Katherine N; Glenn, Kevin A

    2015-01-01

    Alpha-1 antitrypsin deficiency is the leading cause of childhood liver failure and one of the most common lethal genetic diseases. The disease-causing mutant A1AT-Z fails to fold correctly and accumulates in the endoplasmic reticulum (ER) of the liver, resulting in hepatic fibrosis and hepatocellular carcinoma in a subset of patients. Furthermore, A1AT-Z sequestration in hepatocytes leads to a reduction in A1AT secretion into the serum, causing panacinar emphysema in adults. The purpose of this work was to elucidate the details by which A1AT-Z is degraded in hepatic cell lines. We identified the ubiquitin ligase FBG1, which has been previously shown to degrade proteins by both the ubiquitin proteasome pathway and autophagy, as being key to A1AT-Z degradation. Using chemical and genetic approaches we show that FBG1 degrades A1AT-Z through both the ubiquitin proteasome system and autophagy. Overexpression of FBG1 decreases the half-life of A1AT-Z and knocking down FBG1 in a hepatic cell line, and in mice results in an increase in ATAT. Finally, we show that FBG1 degrades A1AT-Z through a Beclin1-dependent arm of autophagy. In our model, FBG1 acts as a safety ubiquitin ligase, whose function is to re-ubiquitinate ER proteins that have previously undergone de-ubiquitination to ensure they are degraded.

  12. FBG1 Is the Final Arbitrator of A1AT-Z Degradation.

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    John H Wen

    Full Text Available Alpha-1 antitrypsin deficiency is the leading cause of childhood liver failure and one of the most common lethal genetic diseases. The disease-causing mutant A1AT-Z fails to fold correctly and accumulates in the endoplasmic reticulum (ER of the liver, resulting in hepatic fibrosis and hepatocellular carcinoma in a subset of patients. Furthermore, A1AT-Z sequestration in hepatocytes leads to a reduction in A1AT secretion into the serum, causing panacinar emphysema in adults. The purpose of this work was to elucidate the details by which A1AT-Z is degraded in hepatic cell lines. We identified the ubiquitin ligase FBG1, which has been previously shown to degrade proteins by both the ubiquitin proteasome pathway and autophagy, as being key to A1AT-Z degradation. Using chemical and genetic approaches we show that FBG1 degrades A1AT-Z through both the ubiquitin proteasome system and autophagy. Overexpression of FBG1 decreases the half-life of A1AT-Z and knocking down FBG1 in a hepatic cell line, and in mice results in an increase in ATAT. Finally, we show that FBG1 degrades A1AT-Z through a Beclin1-dependent arm of autophagy. In our model, FBG1 acts as a safety ubiquitin ligase, whose function is to re-ubiquitinate ER proteins that have previously undergone de-ubiquitination to ensure they are degraded.

  13. Comparative gene expression and phenotype analyses of skeletal muscle from aged wild-type and PAPP-A-deficient mice.

    Science.gov (United States)

    Conover, Cheryl A; Bale, Laurie K; Nair, K Sreekumaran

    2016-07-01

    Mice deficient in pregnancy-associated plasma protein-A (PAPP-A) have extended lifespan associated with decreased incidence and severity of degenerative diseases of age, such as cardiomyopathy and nephropathy. In this study, the effect of PAPP-A deficiency on aging skeletal muscle was investigated. Whole-genome expression profiling was performed on soleus muscles from 18-month-old wild-type (WT) and PAPP-A knock-out (KO) mice of the same sex and from the same litter ('womb-mates') to identify potential mechanisms of skeletal muscle aging and its retardation in PAPP-A deficiency. Top genes regulated in PAPP-A KO compared to WT muscle were associated with increased muscle function, increased metabolism, in particular lipid metabolism, and decreased stress. Fiber cross-sectional area was significantly increased in solei from PAPP-A KO mice. In vitro contractility experiments indicated increased specific force and decreased fatigue in solei from PAPP-A KO mice. Intrinsic mitochondrial oxidative capacity was significantly increased in skeletal muscle of aged PAPP-A KO compared to WT mice. Moreover, 18-month-old PAPP-A KO mice exhibited significantly enhanced endurance running on a treadmill. Thus, PAPP-A deficiency in mice is associated with indices of healthy skeletal muscle function with age. PMID:27086066

  14. Iodine deficiency in children: A comparative study in two districts of south-interior Karnataka, India

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    Mansoor Ahmed

    2014-01-01

    Full Text Available Introduction: Iodine is an essential component of the hormones produced by the thyroid gland that are essential for mammalian life. Although goiter is the most visible sequelae of iodine deficiency, the major impact of hypothyroidism as a result of iodine deficiency is impaired neurodevelopment, particularly early in life. According to the World Health Organization, it is the single most preventable cause of mental retardation and brain damage. The simplest, most effective and inexpensive preventive method is the consumption of iodized salt. Objectives: The objective of the following study is to estimate the prevalence of goiter in children in the rural areas of Mysore and Coorg districts in India and estimate iodine levels in salt samples. Materials and Methods: A cross-sectional study in the age group of 6-12 years, using population proportionate to size systematic sampling method. The total sample size was 10,082: out of which 5337 was from Mysore and the rest from Coorg district. Clinical examination of the thyroid gland was done and salt samples collected for the estimation of Iodine. Results: The total prevalence of goiter was 19.01% in children of 6-12 years in Coorg district and 8.77% in Mysore district and it was more in females than in males. Conclusions: It was observed that iodine deficiency disorders is endemic in both districts, with a prevalence of 19.01% in children aged 6-12 years in Coorg district and 8.77% in Mysore district. Analysis of salt samples suggested that most of the samples were inadequately iodised (73.92% in Coorg and 45.92% in Mysore.

  15. Comparative 13C metabolic flux analysis of pyruvate dehydrogenase complex-deficient, L-valine-producing Corynebacterium glutamicum.

    Science.gov (United States)

    Bartek, Tobias; Blombach, Bastian; Lang, Siegmund; Eikmanns, Bernhard J; Wiechert, Wolfgang; Oldiges, Marco; Nöh, Katharina; Noack, Stephan

    2011-09-01

    L-Valine can be formed successfully using C. glutamicum strains missing an active pyruvate dehydrogenase enzyme complex (PDHC). Wild-type C. glutamicum and four PDHC-deficient strains were compared by (13)C metabolic flux analysis, especially focusing on the split ratio between glycolysis and the pentose phosphate pathway (PPP). Compared to the wild type, showing a carbon flux of 69% ± 14% through the PPP, a strong increase in the PPP flux was observed in PDHC-deficient strains with a maximum of 113% ± 22%. The shift in the split ratio can be explained by an increased demand of NADPH for l-valine formation. In accordance, the introduction of the Escherichia coli transhydrogenase PntAB, catalyzing the reversible conversion of NADH to NADPH, into an L-valine-producing C. glutamicum strain caused the PPP flux to decrease to 57% ± 6%, which is below the wild-type split ratio. Hence, transhydrogenase activity offers an alternative perspective for sufficient NADPH supply, which is relevant for most amino acid production systems. Moreover, as demonstrated for L-valine, this bypass leads to a significant increase of product yield due to a concurrent reduction in carbon dioxide formation via the PPP.

  16. Abalation of Ghrelin receptor in leptin-deficient mice has paradoxical effects on glucose homeostasis compared to Ghrelin-abalated Leptin-deficient mice

    Science.gov (United States)

    Ghrelin is produced predominantly in stomach and is known to be the endogenous ligand of the growth hormone secretagogue receptor (GHSR). Ghrelin is a GH stimulator and an orexigenic hormone. In contrast, leptin is an anorexic hormone, and leptin-deficient ob/ob mice are obese and diabetic. To study...

  17. COMPARATIVE STUDY OF INTRAVENOUS IRON SUCROSE AND O RAL IRON IN IRON DEFICIENCY ANAEMIA AMONG PREGNANT WOME N IN RURAL

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    Meenal

    2013-02-01

    Full Text Available ABSTRACT: Iron deficiency anaemia (IDA is the commonest medi cal disorder in pregnancy in developing countries including India. It is not only the leading cause of maternal death but also an aggravating factor in haemorrhage, sepsis and tox emia. Conditions such as abortions, premature births, antepartum haemorrhage, post partum haemorrhage and low birth weight were especially associated with low haemoglobin leve ls in pregnancy. 40 -80% of women belonging to low socio economic groups are anaemic i n the last trimester of pregnancy. Research on alternative to Iron Folic acid (IFA su pplementation is being carried out in some parts of India. Intravenous (IV Iron sucrose thera py is one such alternative. This study was planned to evaluate the response to intravenous iron sucrose in anaemic pregnant women from rural areas and compare it with oral iron therapy.

  18. Fibromyalgia, mood disorders, and intense creative energy: A1AT polymorphisms are not always silent.

    Science.gov (United States)

    Schmechel, Donald E; Edwards, Christopher L

    2012-12-01

    Persons with single copies of common alpha-1-antitrypsin polymorphisms such as S and Z are often considered "silent carriers". Published evidence however supports a complex behavioral phenotype or trait - intense creative energy ("ICE")-associated with A1AT polymorphisms. We now confirm that phenotype and present an association of fibromyalgia syndrome (FMS) and A1AT in a consecutive series of neurological patients. This is a retrospective case control series of 3176 consecutive patients presenting to Duke University Memory Clinic (747 patients) and to regional community-based Caldwell Hospital Neurology and Memory center (2429 patients). Work-up included medical history and examination, psychological evaluation, and genetic analysis. Chronic widespread pain (CWP) or FMS were diagnosed according to clinical guidelines, mostly as secondary diagnoses. Neurological patients carrying A1AT polymorphisms were common (ca 16% prevalence) and carriers had significantly higher use of inhaler and anxiolytic medications. Patients with ICE phenotype had a significantly higher proportion of A1AT polymorphisms (42%) compared to non-ICE patients (13%). Presence of CWP or FMS was common (14-22%) with average age at presentation of 56 years old and mostly female gender (82%). Patients with CWP/FMS had again significantly higher proportion of A1AT polymorphisms (38%) compared to other neurological patients (13%). Patients with anxiety disorders, bipolar I or bipolar II disorders or PTSD also had increased proportion of A1AT polymorphisms and significant overlap with ICE and FMS phenotype. Significant reductions in CWP/FMS prevalence are seen in apolipoprotein E4 carriers and methylene tetrahydrofolate reductase (MTHFR) mutation homozygotes. Since ICE phenotype is reported as a lifelong behavioral attribute, the presumption is that A1AT carriers have fundamental differences in brain development and inflammatory response. In support of this concept is finding those persons reporting a

  19. Comparative study of intravenous iron sucrose versus ferric carboxymaltose for the treatment of iron deficiency anemia in postpartum patients

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    Kishorkumar Vitthal Hol

    2015-06-01

    Conclusions: Fixed dose iron sucrose and ferric carboxymaltose are equally effective and safe for the treatment of iron deficiency anemia in postpartum patients. [Int J Reprod Contracept Obstet Gynecol 2015; 4(3.000: 669-673

  20. Marine Oxygen-Deficient Zones Harbor Depauperate Denitrifying Communities Compared to Novel Genetic Diversity in Coastal Sediments.

    Science.gov (United States)

    Bowen, Jennifer L; Weisman, David; Yasuda, Michie; Jayakumar, Amal; Morrison, Hilary G; Ward, Bess B

    2015-08-01

    Denitrification is a critically important biogeochemical pathway that removes fixed nitrogen from ecosystems and thus ultimately controls the rate of primary production in nitrogen-limited systems. We examined the community structure of bacteria containing the nirS gene, a signature gene in the denitrification pathway, from estuarine and salt marsh sediments and from the water column of two of the world's largest marine oxygen-deficient zones (ODZs). We generated over 125,000 nirS gene sequences, revealing a large degree of genetic diversity including 1,815 unique taxa, the vast majority of which formed clades that contain no cultured representatives. These results underscore how little we know about the genetic diversity of metabolisms underlying this critical biogeochemical pathway. Marine sediments yielded 1,776 unique taxa when clustered at 95 % sequence identity, and there was no single nirS denitrifier that was a competitive dominant; different samples had different highly abundant taxa. By contrast, there were only 39 unique taxa identified in samples from the two ODZs, and 99 % of the sequences belonged to 5 or fewer taxa. The ODZ samples were often dominated by nirS sequences that shared a 92 % sequence identity to a nirS found in the anaerobic ammonium-oxidizing (anammox) genus Scalindua. This sequence was abundant in both ODZs, accounting for 38 and 59 % of all sequences, but it was virtually absent in marine sediments. Our data indicate that ODZs are remarkably depauperate in nirS genes compared to the remarkable genetic richness found in coastal sediments.

  1. A COMPARATIVE STUDY OF IMPROVEMENT IN HAEMOGLOBIN % IN IRON DEFICIENCY ANAEMIA TREATED WITH IRON SUPPLEMENTS ALONE AND IRON WITH B12 SUPPLEMENTATION

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    Suhasini

    2015-10-01

    Full Text Available C o - existence of vitamin B 12 deficiencies along with iron has been observed among young females aged between 15 to 25 years .but limited evidence is available from india.so comparative study was done in young females with iron deficiency anaema in the improvement of haemoglobin % treated with iro n supplementation alone and iron along with B12 supplementation in Kadapa , A ndhra Pradesh. A total of 50 young females with moderate anaemia 1 (Hb % in between 8 - 10gm % were taken. T hey were divided into two groups .group - 1 consists of 25 patients treated with oral iron, group - 2 consists of 25 patients treated with oral iron and oral B12. R esults - significantly found that Hb% improvement was more in females treated with iron and B 12 compared with group treated with iron alone. Conclusion : This study shows that in addition to iron supplementation B12 supplementation was benefi cial in the improvement of Hb%

  2. Comparative effects of dietary nucleoside-nucleotide mixture and its components on endotoxin induced bacterial translocation and small intestinal injury in protein deficient mice.

    OpenAIRE

    Adjei, A A; Yamauchi, K.; Chan, Y. C.; Konishi, M; Yamamoto, S.

    1996-01-01

    BACKGROUND--Nucleoside-nucleotide mixture has been shown to improve gut morphology and reduce the incidence of bacterial translocation in protein deficient mice. AIMS--To compare the reparative effect of nucleoside-nucleotide mixture and their individual components on maintenance of gut integrity and bacterial translocation based on their differential metabolism and utilisation. METHODS--ICR (CD-1) mice were randomised into eight groups of 10 animals each and fed 20% casein diet (control), pr...

  3. Comparative effects of wild type Stenotrophomonas maltophilia and its indole acetic acid-deficient mutants on wheat.

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    Hassan, T U; Bano, A

    2016-09-01

    The present investigation evaluated the role of Stenotrophomonas maltophilia and its IAA-deficient mutant on soil health and plant growth under salinity stress in the presence of tryptophan. In the first phase, S. maltophilia isolated from roots of the halo- phytic herb, Cenchrus ciliaris was used as bio-inoculant on wheat grown in saline sodic soil. A field experiment was conducted at Soil Salinity Research Institute during 2010-2011. Treatments included seed inoculation with S. maltophilia with or without tryptophan; uninoculated untreated plants were taken as control. An aqueous solution of tryptophan was added to rhizosphere soil at 1 μg l(_1) after seed germination. Inoculation with S. maltophilia significantly increased soil organic matter, enhanced (20-30%) availability of P, K, Ca and NO3 -N and decreased Na content and electrical conductivity of rhizosphere soil. Plant height, fresh weight, proline and phytohormone content of leaves were increased 30-40% over the control. Activities of superoxide dismutase (SOD) and peroxidase (POD) were 40-50% higher than control. Addition of tryptophan further augmented (10-15%) growth parameters, whereas NO3 -N, P, K and Ca content, proline content and SOD and POD increased 20-30%. In a second phase, indoleacetic acid (IAA)-deficient mutants of S. maltophilia were constructed and evaluated for conversion of tryptophan to IAA at the University of Calgary, Canada, during 2013-2014. About 1800 trans-conjugants were constructed that were unable to produce IAA in the presence of tryptophan. The results suggest that tryptophan assisted S. maltophilia in the amelioration of salt stress, and that IAA played positive role in induction of salt tolerance. PMID:27263526

  4. A Comparative Study of Prevalence of Iron Deficiency Anaemia in Antenatal Women from Urban and Rural Area of Pune, India

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    Kundap RP

    2016-05-01

    Material and Methods: A cross sectional study was conducted in urban and rural health training centres of a medical college in Pune. The antenatal women were the study subjects. A total of 180 ANC cases were recruited and studies from both the field practice area attending the outpatient clinics. Sociodemographic profile was recorded and anaemia was assessed using recently done haemoglobin reports in the present pregnancy. The study duration was 6 months. GCP and ethical guidelines were followed as advised for human studies. Results: The prevalence of IDA in the study population was 66%. (rural=81%, urban=51%. IDA prevalence was 54% in primigravida and the prevalence increased as gravid status increased. Iron deficiency anaemia was seen statistically significantly associated with residence, illiteracy, type of diet, and gravida status of the pregnant women. Conclusion: IDA has strong relation with residence (urban/rural, literacy level, social status, monthly income and dietary habits. " [Natl J Community Med 2016; 7(5.000: 351-354

  5. Compared with saturated fatty acids, dietary monounsaturated fatty acids and carbohydrates increase atherosclerosis and VLDL cholesterol levels in LDL receptor-deficient, but not apolipoprotein E-deficient, mice.

    Science.gov (United States)

    Merkel, M; Velez-Carrasco, W; Hudgins, L C; Breslow, J L

    2001-11-01

    Heart-healthy dietary recommendations include decreasing the intake of saturated fatty acids (SFA). However, the relative benefit of replacing SFA with monounsaturated fatty acids (MUFA), polyunsaturated fatty acids (PUFA), or carbohydrates (CARB) is still being debated. We have used two mouse models of atherosclerosis, low density lipoprotein receptor-deficient (LDLRKO) and apolipoprotein E-deficient (apoEKO) mice to measure the effects of four isocaloric diets enriched with either SFA, MUFA, PUFA, or CARB on atherosclerotic lesion area and lipoprotein levels. In LDLRKO mice, compared with the SFA diet, the MUFA and CARB diets significantly increased atherosclerosis in both sexes, but the PUFA diet had no effect. The MUFA and CARB diets also increased very low density lipoprotein-cholesterol (VLDL-C) and LDL-cholesterol (LDL-C) in males and VLDL-C levels in females. Analysis of data from LDLRKO mice on all diets showed that atherosclerotic lesion area correlated positively with VLDL-C levels (males: r = 0.47, P diet, the CARB diet significantly decreased VLDL-C in males and the MUFA, PUFA, and CARB diets decreased VLDL-C and the CARB diet decreased LDL-C in females. In summary, in LDLRKO mice the replacement of dietary SFA by either MUFA or CARB causes a proportionate increase in both atherosclerotic lesion area and VLDL-C. There were no significant dietary effects on atherosclerotic lesion area in apoEKO mice. These results are surprising and suggest that, depending on the underlying genotype, dietary MUFA and CARB can actually increase atherosclerosis susceptibility, probably by raising VLDL-C levels through a non-LDL receptor, apoE-dependent pathway. PMID:11606787

  6. Angular Distribution and Angular Dispersion in Collision of 19F+27A1 at 114 MeV

    Institute of Scientific and Technical Information of China (English)

    WANG Qi; Li Zhi-Chang; LU Xiu-Qin; ZHAO Kui; LIU Jian-Cheng; SERGEY Yu-Kun; DONG Yu-Chuan; LI Song-Lin; DUAN Li-Min; XU Hu-Shan; XU Hua-Gen; CHEN Ruo-Fu; WU He-Yu; HAN Jian-Long

    2004-01-01

    Angular distributions of fragments B, C, N, O, F, Ne, Na, Mg and Al induced by the collision of 19F+27 A1 at 114MeV have been measured. Angular dispersion parameters are extracted from the experimental data and compared with the theoretical ones. The dynamic dispersions for dissipative products depend strongly on the charge number Z of the fragments.

  7. Comparative Study of Human Hematopoietic Cell Engraftment into Balb/c and C57BL/6 Strain of Rag-2/Jak3 Double-Deficient Mice

    Directory of Open Access Journals (Sweden)

    Ayumi Ono

    2011-01-01

    Full Text Available Immunodeficient mice are becoming invaluable tools in human stem cell and tumor research. In this study, we generated Rag-2/Jak3 double-deficient (Rag-2−/−Jak3−/− mice with a C57/BL6 and Balb/c genetic background and compared the human lymphohematopoietic cell engraftment rate. Human cord blood-derived CD34+ hematopoietic stem cells were successfully engrafted into Balb/c Rag-2−/−Jak3−/− mice; however, the engraftment rate was far lower in C57/BL6 Rag-2−/−Jak3−/− mice. Transplantation of human peripheral blood mononuclear cells resulted in the same tendency. Thus, a Balb/c background offers superior engraftment capacity than a C57/BL6 background and provides an attractive model for human hematopoietic cell engraftment.

  8. ER stress responses in the absence of apoptosome: a comparative study in CASP9 proficient vs deficient mouse embryonic fibroblasts.

    Science.gov (United States)

    Deegan, Shane; Saveljeva, Svetlana; Gupta, Sanjeev; MacDonald, David C; Samali, Afshin

    2014-08-29

    Cells respond to endoplasmic reticulum (ER) stress through the unfolded protein response (UPR), autophagy and cell death. In this study we utilized casp9(+/+) and casp9(-/-) MEFs to determine the effect of inhibition of mitochondrial apoptosis pathway on ER stress-induced-cell death, UPR and autophagy. We observed prolonged activation of UPR and autophagy in casp9(-/-) cells as compared with casp9(+/+) MEFs, which displayed transient activation of both pathways. Furthermore we showed that while casp9(-/-) MEFs were resistant to ER stress, prolonged exposure led to the activation of a non-canonical, caspase-mediated mode of cell death. PMID:25086361

  9. Compared with saturated fatty acids, dietary monounsaturated fatty acids and carbohydrates increase atherosclerosis and VLDL cholesterol levels in LDL receptor-deficient, but not apolipoprotein E-deficient, mice

    OpenAIRE

    Merkel, Martin; Velez-Carrasco, Wanda; Hudgins, Lisa C.; Breslow, Jan L.

    2001-01-01

    Heart-healthy dietary recommendations include decreasing the intake of saturated fatty acids (SFA). However, the relative benefit of replacing SFA with monounsaturated fatty acids (MUFA), polyunsaturated fatty acids (PUFA), or carbohydrates (CARB) is still being debated. We have used two mouse models of atherosclerosis, low density lipoprotein receptor-deficient (LDLRKO) and apolipoprotein E-deficient (apoEKO) mice to measure the effects of four isocaloric diets enriched with either SFA, MUFA...

  10. To compare the efficacy of two kinds of Zhizhu pills in the treatment of functional dyspepsia of spleen-deficiency and qi-stagnation syndrome:a randomized group sequential comparative trial

    Directory of Open Access Journals (Sweden)

    Huang Luqi

    2011-07-01

    Full Text Available Abstract Background In Traditional Chinese Medicine (TCM theory, functional dyspepsia (FD can be divided into different syndromes according to different clinical symptoms and signs, and the most common one is spleen-deficiency and qi-stagnation syndrome that can be treated by Chinese traditional patent medicine ---- two kinds of Zhizhu pills, between which the primary difference in ingredients is that one contains immature orange fruit of Citrus aurantium L.(IFCA and the other contains that of Citrus sinensis Osbeck (IFCS. The trial's objective was to compare the efficacy of two kinds of Zhizhu pills on symptom changes in patients with FD of spleen-deficiency and qi-stagnation syndrome. Methods A randomized, group sequential, double-blinded, multicenter trial was conducted in patients with FD of spleen-deficiency and qi-stagnation syndrome at 3 hospitals in Beijing between June 2003 and May 2005. Participants were randomly allocated into two groups (IFCA group and IFCS group in a 1:1 ratio, and respectively took one of the two kinds of Zhizhu pills orally, 6 g each time, 3 times a day, for 4 weeks. Statistical analysis was performed with use of a group sequential method, the triangular test (TT. Results A total of 163 patients were randomized, and 3 patients were excluded from analysis because of early dropouts, leaving 160 patients (IFCA group: n = 82; IFCS group: n = 78 for statistical analysis. Three interim analyses were done after 62, 116, and 160 patients had completed their 4-week treatment, respectively. At the third interim analysis, the sample path crossed the upper boundary and the trial was stopped, the cure-markedly effective rates were 45% for IFCS group and 67% for IFCA group, respectively, the one-sided p-value was 0.0036, the median unbiased estimate of the odds ratio (OR for the benefit of IFCA relative to IFCS was 2.91 with 95%CI: 1.40 to 6.06. No adverse events were observed in the two groups. Conclusions Zhizhu pills

  11. 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

  12. A comparative glycoproteome study of developing endosperm in the hexose-deficient miniature1 (mn1 seed mutant and its wild type Mn1 in maize

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    Cecilia eSilva-Sanchez

    2014-02-01

    Full Text Available In maize developing seeds, transfer cells are prominently located at the basal endosperm transfer layer (BETL. As the first filial cell layer, BETL is a gateway to sugars, nutrients and water from mother plant; and anchor of numerous functions such as sucrose turnover, auxin and cytokinin biosynthesis/accumulation, energy metabolism, defense response, and signaling between maternal and filial generations. Previous studies showed that basal developing endosperms of miniature1 (mn1 mutant seeds lacking the Mn1-encoded cell wall invertase II, are also deficient for hexose. Given the role of glucose as one of the key sugars in protein glycosylation and proper protein folding; we performed a comparative large scale glycoproteome profiling of total proteins of these two genotypes (mn1 mutant vs Mn1 wild type using 2D gel electrophoresis and glycosylation/total protein staining, followed by image analysis. Protein identification was done by LC-MS/MS. A total of 413 spots were detected; from which, 113 spots matched between the two genotypes. Of these, 45 showed > 20% decrease/increase in glycosylation level and were selected for protein identification. A large number of identified proteins showed decreased glycosylation levels in mn1 developing endosperms as compared to the Mn1. Functional classification of proteins, showed mainly of post-translational modification, protein turnover, chaperone activities, carbohydrate and amino acid biosynthesis / transport, and cell wall biosynthesis. These proteins and activities were related to endoplasmic reticulum (ER stress and unfolded protein response (UPR as a result of the low glycolsylation levels of the mutant proteins. Overall, these results provide for the first time a global glycoproteome profile of maize BETL-enriched basal endosperm to better understand their role in seed development in maize.

  13. 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.

  14. Recognition of galactose-deficient O-glycans in the hinge region of IgA1 by N-acetylgalactosamine-specific snail lectins: a comparative binding study.

    Science.gov (United States)

    Gomes, Michelle M; Suzuki, Hitoshi; Brooks, Monica T; Tomana, Milan; Moldoveanu, Zina; Mestecky, Jiri; Julian, Bruce A; Novak, Jan; Herr, Andrew B

    2010-07-13

    Aberrancies in IgA1 glycosylation have been linked to the pathogenesis of IgA nephropathy (IgAN), a kidney disease characterized by deposits of IgA1-containing immune complexes in the glomerular mesangium. IgA1 from IgAN patients is characterized by the presence of galactose (Gal)-deficient O-glycans in the hinge region that can act as epitopes for anti-glycan IgG or IgA1 antibodies. The resulting circulating immune complexes are trapped in the glomerular mesangium of the kidney where they trigger localized inflammatory responses by activating mesangial cells. Certain lectins recognize the terminal N-acetylgalactosamine (GalNAc)-containing O-glycans on Gal-deficient IgA1 and can be potentially used as diagnostic tools. To improve our understanding of GalNAc recognition by these lectins, we have conducted binding studies to assess the interaction of Helix aspersa agglutinin (HAA) and Helix pomatia agglutinin (HPA) with Gal-deficient IgA1. Surface plasmon resonance spectroscopy revealed that both HAA and HPA bind to a Gal-deficient synthetic hinge region glycopeptide (HR-GalNAc) as well as various aberrantly glycosylated IgA1 myeloma proteins. Despite having six binding sites, both HAA and HPA bind IgA1 in a functionally bivalent manner, with the apparent affinity for IgA1 related to the number of exposed GalNAc groups in the IgA1 hinge. Finally, HAA and HPA were shown to discriminate very effectively between the IgA1 secreted by cell lines derived from peripheral blood cells of patients with IgAN and that from cells of healthy controls. These studies provide insight into lectin recognition of the Gal-deficient IgA1 hinge region and lay the groundwork for the development of reliable diagnostic tools for IgAN.

  15. A comparative ultrastructural and molecular biological study on Chlamydia psittaci infection in alpha-1 antitrypsin deficiency and non-alpha-1 antitrypsin deficiency emphysema versus lung tissue of patients with hamartochondroma

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    Mogilevski Grigori

    2004-09-01

    Full Text Available Abstract Background Chlamydiales are familiar causes of acute and chronic infections in humans and animals. Human pulmonary emphysema is a component of chronic obstructive pulmonary disease (COPD and a condition in which chronic inflammation manifested as bronchiolitis and intra-alveolar accumulation of macrophages is common. It is generally presumed to be of infectious origin. Previous investigations based on serology and immunohistochemistry indicated Chlamydophila pneumoniae infection in cases of COPD. Furthermore, immunofluorescence with genus-specific antibodies and electron microscopy suggested involvement of chlamydial infection in most cases of pulmonary emphysema, but these findings could not be verified by PCR. Therefore, we examined the possibility of other chlamydial species being present in these patients. Methods Tissue samples from patients having undergone lung volume reduction surgery for advanced alpha-1 antitrypsin deficiency (AATD, n = 6 or non-alpha-1 antitrypsin deficiency emphysema (n = 34 or wedge resection for hamartochondroma (n = 14 were examined by transmission electron microscopy and PCR. Results In all cases of AATD and 79.4% of non-AATD, persistent chlamydial infection was detected by ultrastructural examination. Intra-alveolar accumulation of macrophages and acute as well as chronic bronchiolitis were seen in all positive cases. The presence of Chlamydia psittaci was demonstrated by PCR in lung tissue of 66.7% AATD vs. 29.0% non-AATD emphysema patients. Partial DNA sequencing of four positive samples confirmed the identity of the agent as Chlamydophila psittaci. In contrast, Chlamydophila pneumoniae was detected only in one AATD patient. Lung tissue of the control group of non-smokers with hamartochondroma was completely negative for chlamydial bodies by TEM or chlamydial DNA by PCR. Conclusions These data indicate a role of Chlamydophila psittaci in pulmonary emphysema by linking this chronic inflammatory process

  16. 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...

  17. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... deficiency dwarfism, pituitary growth hormone deficiency dwarfism isolated GH deficiency isolated HGH deficiency isolated human growth hormone deficiency isolated somatotropin deficiency isolated somatotropin deficiency disorder ...

  18. VLCAD deficiency

    DEFF Research Database (Denmark)

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

    2006-01-01

    -negative diagnoses of VLCADD in asymptomatic newborn babies. In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients.......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...... samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. Urine analysis was normal in 5/5. We conclude that the timing of blood sampling for newborn screening is important and that it is important to perform mutation analysis to avoid false...

  19. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase and accumulation of gamma-hydroxybutyrate associated with its deficiency

    Directory of Open Access Journals (Sweden)

    Malaspina Patrizia

    2009-01-01

    Full Text Available Abstract Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22 occupies a central position in central nervous system (CNS neurotransmitter metabolism as one of two enzymes necessary for γ-aminobutyric acid (GABA recycling from the synaptic cleft. Its importance is highlighted by the neurometabolic disease associated with its inherited deficiency in humans, as well as the severe epileptic phenotype observed in Aldh5a1-/- knockout mice. Expanding evidence now suggests, however, that even subtle decreases in human SSADH activity, associated with rare and common single nucleotide polymorphisms, may produce subclinical pathological effects. SSADH, in conjunction with aldo-keto reductase 7A2 (AKR7A2, represent two neural enzymes responsible for further catabolism of succinic semialdehyde, producing either succinate (SSADH or γ-hydroxybutyrate (GHB; AKR7A2. A GABA analogue, GHB is a short-chain fatty alcohol with unusual properties in the CNS and a long pharmacological history. Moreover, SSADH occupies a further role in the CNS as the enzyme responsible for further metabolism of the lipid peroxidation aldehyde 4-hydroxy-2-nonenal (4-HNE, an intermediate known to induce oxidant stress. Accordingly, subtle decreases in SSADH activity may have the capacity to lead to regional accumulation of neurotoxic intermediates (GHB, 4-HNE. Polymorphisms in SSADH gene structure may also associate with quantitative traits, including intelligence quotient and life expectancy. Further population-based studies of human SSADH activity promise to reveal additional properties of its function and additional roles in CNS tissue.

  20. Alpha-1 Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Clinical Practice Guideline

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    DD Marciniuk

    2012-01-01

    Full Text Available Alpha-1 antitrypsin (A1AT functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD. Severe A1AT deficiency occurs in one in 5000 to one in 5500 of the North American population. While the exact prevalence of A1AT deficiency in patients with diagnosed COPD is not known, results from small studies provide estimates of 1% to 5%. The present document updates a previous Canadian Thoracic Society position statement from 2001, and was initiated because of lack of consensus and understanding of appropriate patients suitable for targeted testing for A1AT deficiency, and for the use of A1AT augmentation therapy. Using revised guideline development methodology, the present clinical practice guideline document systematically reviews the published literature and provides an evidence-based update. The evidence supports the practice that targeted testing for A1AT deficiency be considered in individuals with COPD diagnosed before 65 years of age or with a smoking history of <20 pack years. The evidence also supports consideration of A1AT augmentation therapy in nonsmoking or exsmoking patients with COPD (forced expiratory volume in 1 s of 25% to 80% predicted attributable to emphysema and documented A1AT deficiency (level ≤11 μmol/L who are receiving optimal pharmacological and nonpharmacological therapies (including comprehensive case management and pulmonary rehabilitation because of benefits in computed tomography scan lung density and mortality.

  1. Comparative analysis on detection of glucose-6-phosphatase deficiency by two different methods.%不同方法检测葡萄糖-6-磷酸酶缺乏的结果分析

    Institute of Scientific and Technical Information of China (English)

    孟宪玲; 范美珍; 杨明山

    2012-01-01

    Objective To compare and evaluate the results of applying two different methods in glu-cose-6-phosphatase (G6PD) deficiency detection. Methods 3 052 blood samples were detected by Spectrophotom-eter assay and Automatic Chemistry analyzer, respectively. Results Of the 3 052 blood samples, 226 cases (7.4%) were detected with G6PD deficiency by Spectrophotometer assay, including 152 males (7.9%) and 71 females (6.3%). By Automatic Chemistry Analyzer, 287 cases (9.4%) were detected with G6PD deficiency, including 182 males (9.5%) and 105 females (9.3%). Conclusion Automatic Chemistry Analyzer and Spectrophotometer assay can both detect G6PD deficiency well, but the former is found with a higher detection rate and easy operation, which is easier to be standardized.%目的 对G6PD缺乏的不同检测方法进行比较和评价.方法 以分光光度计比色法、全自动生化分析仪速率法分别对3 052例来我院婚检和产检人群进行G6PD检测.结果 3 052例受检者中,经分光光度计比色法共检出G6PD缺乏者226例,检出率为7.4%;其中男性152例,检出率为7.9%,女性71例,检出率为6.3%.全自动生化分析仪速率法检出287例,检出率为9.4%;其中男性182例,检出率为9.5%,女性105例,检出率为9.3%.结论 全自动生化分析仪速率法测定G6PD与分光光度计比色法均能很好地检测G6PD缺乏患者,前者的检出率更高,操作便捷快速,更易标准化.

  2. Comparative study of safety and efficacy of intravenous iron sucrose and ferric carboxymaltose in the treatment of postpartum iron deficiency anaemia

    Directory of Open Access Journals (Sweden)

    Alpana Singh

    2016-04-01

    Conclusions: Ferric carboxymaltose has a greater safety profile (p and offers faster elevation of haemoglobin and iron stores with lesser hospital stay as compared to iron sucrose. [Int J Reprod Contracept Obstet Gynecol 2016; 5(4.000: 1130-1133

  3. Comparative Temporal Proteomics of a Response Regulator (SO2426)-Deficient Strain and Wild-Type Shewanella oneidensis MR-1 During Chromate Transformation

    Energy Technology Data Exchange (ETDEWEB)

    Chourey, Karuna [ORNL; Thompson, Melissa R [ORNL; Shah, Manesh B [ORNL; Zhang, Bing [ORNL; Verberkmoes, Nathan C [ORNL; Thompson, Dorothea K. [Purdue University; Hettich, Robert {Bob} L [ORNL

    2009-01-01

    Predicted orphan response regulators encoded in the Shewanella oneidensis MR-1 genome are poorly understood from a cellular function perspective. Our previous transcriptomic and proteomic analyses demonstrated that an annotated DNA-binding response regulator, SO2426, was significantly up-regulated in wild-type S. oneidensis cells at both themRNAand protein levels in response to acute chromate [Cr(VI)] challenge, suggesting a potential regulatory role for this protein in metal stress pathways. To investigate the impact of SO2426 activity on chromate stress response at a genome-wide scale, we describe here comparative and temporal proteome characterizations using multidimensional HPLC-MS/MS and statistical analysis to identify differentially expressed proteins in biological replicates of wild-type S. oneidensis MR-1 and a so2426 deletion ( so2426) strain, which exhibited an impaired Cr(VI) transformation rate compared to that of the parental strain. Global protein profiles were examined at different time intervals (0, 1, 3, 4 h) following exogenous chromate challenge. Results indicated that deletion of the so2426 gene negatively affected expression of a small protein subset (27 proteins) including those with annotated functions in siderophore biosynthesis (SO3032), Fe uptake (SO4743), intracellular Fe storage (Bfr1), and other transport processes. Cr(VI) exposure and subsequent ransformation dramatically increased the number of differentially expressed proteins detected,with up-regulated bundance patterns observed largely for proteins involved in general stress protection and detoxification trategies, cell motility, and protein fate. In addition, the proteome data sets were mined for amino acids with otential post-translational modifications (PTMs) indicative of a level of gene expression regulation extending eyond the transcriptional control imposed by SO2426.

  4. Comparative proteomic analysis of Salmonella enterica serovar Typhimurium ppGpp-deficient mutant to identify a novel virulence protein required for intracellular survival in macrophages

    Directory of Open Access Journals (Sweden)

    Kumagai Yoshinori

    2010-12-01

    Full Text Available Abstract Background The global ppGpp-mediated stringent response in pathogenic bacteria plays an important role in the pathogenesis of bacterial infections. In Salmonella enterica serovar Typhimurium (S. Typhimurium, several genes, including virulence genes, are regulated by ppGpp when bacteria are under the stringent response. To understand the control of virulence genes by ppGpp in S. Typhimurium, agarose 2-dimensional electrophoresis (2-DE combined with mass spectrometry was used and a comprehensive 2-DE reference map of amino acid-starved S. Typhimurium strain SH100, a derivative of ATCC 14028, was established. Results Of the 366 examined spots, 269 proteins were successfully identified. The comparative analysis of the wild-type and ppGpp0 mutant strains revealed 55 proteins, the expression patterns of which were affected by ppGpp. Using a mouse infection model, we further identified a novel virulence-associated factor, STM3169, from the ppGpp-regulated and Salmonella-specific proteins. In addition, Salmonella strains carrying mutations in the gene encoding STM3169 showed growth defects and impaired growth within macrophage-like RAW264.7 cells. Furthermore, we found that expression of stm3169 was controlled by ppGpp and SsrB, a response regulator of the two-component system located on Salmonella pathogenicity island 2. Conclusions A proteomic approach using a 2-DE reference map can prove a powerful tool for analyzing virulence factors and the regulatory network involved in Salmonella pathogenesis. Our results also provide evidence of a global response mediated by ppGpp in S. enterica.

  5. A Comparative Study of Age-Related Hearing Loss in Wild Type and Insulin-Like Growth Factor I Deficient Mice

    Science.gov (United States)

    Riquelme, Raquel; Cediel, Rafael; Contreras, Julio; Lourdes, Rodriguez-de la Rosa; Murillo-Cuesta, Silvia; Hernandez-Sanchez, Catalina; Zubeldia, Jose M.; Cerdan, Sebastian; Varela-Nieto, Isabel

    2010-01-01

    Insulin-like growth factor-I (IGF-I) belongs to the family of insulin-related peptides that fulfils a key role during the late development of the nervous system. Human IGF1 mutations cause profound deafness, poor growth and mental retardation. Accordingly, Igf1−/− null mice are dwarfs that have low survival rates, cochlear alterations and severe sensorineural deafness. Presbycusis (age-related hearing loss) is a common disorder associated with aging that causes social and cognitive problems. Aging is also associated with a decrease in circulating IGF-I levels and this reduction has been related to cognitive and brain alterations, although there is no information as yet regarding the relationship between presbycusis and IGF-I biodisponibility. Here we present a longitudinal study of wild type Igf1+/+ and null Igf1−/− mice from 2 to 12 months of age comparing the temporal progression of several parameters: hearing, brain morphology, cochlear cytoarchitecture, insulin-related factors and IGF gene expression and IGF-I serum levels. Complementary invasive and non-invasive techniques were used, including auditory brainstem-evoked response (ABR) recordings and in vivo MRI brain imaging. Igf1−/− null mice presented profound deafness at all the ages studied, without any obvious worsening of hearing parameters with aging. Igf1+/+ wild type mice suffered significant age-related hearing loss, their auditory thresholds and peak I latencies augmenting as they aged, in parallel with a decrease in the circulating levels of IGF-I. Accordingly, there was an age-related spiral ganglion degeneration in wild type mice that was not evident in the Igf1 null mice. However, the Igf1−/− null mice in turn developed a prematurely aged stria vascularis reminiscent of the diabetic strial phenotype. Our data indicate that IGF-I is required for the correct development and maintenance of hearing, supporting the idea that IGF-I-based therapies could contribute to prevent or

  6. A comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice

    Directory of Open Access Journals (Sweden)

    Raquel Riquelme

    2010-06-01

    Full Text Available Insulin-like growth factor-I (IGF-I belongs to the family of insulin-related peptides that fulfils a key role during the late development of the nervous system. Human IGF1 mutations cause profound deafness, poor growth and mental retardation. Accordingly, Igf1−/− null mice are dwarfs that have low survival rates, cochlear alterations and severe sensorineural deafness. Presbycusis (age-related hearing loss is a common disorder associated with aging that causes social and cognitive problems. Aging is also associated with a decrease in circulating IGF-I levels and this reduction has been related to cognitive and brain alterations, although there is no information as yet regarding the relationship between presbycusis and IGF-I biodisponibility. Here we present a longitudinal study of wild type Igf1+/+ and null Igf1−/− mice from 2 to 12 months of age comparing the temporal progression of several parameters: hearing, brain morphology, cochlear cytoarchitecture, insulin-related factors and IGF gene expression and IGF-I serum levels. Complementary invasive and non-invasive techniques were used, including auditory brainstem-evoked response (ABR recordings and in vivo MRI brain imaging. Igf1−/− null mice presented profound deafness at all the ages studied, without any obvious worsening of hearing parameters with aging. Igf1+/+ wild type mice suffered significant age-related hearing loss, their auditory thresholds and peak I latencies augmenting as they aged, in parallel with a decrease in the circulating levels of IGF-I. Accordingly, there was an age-related spiral ganglion degeneration in wild type mice that was not evident in the Igf1 null mice. However, the Igf1−/− null mice in turn developed a prematurely aged stria vascularis reminiscent of the diabetic strial phenotype. Our data indicate that IGF-I is required for the correct development and maintenance of hearing, supporting the idea that IGF-I-based therapies could contribute to

  7. A comparative study of N-glycolylneuraminic acid (Neu5Gc and cytotoxic T cell (CT carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle.

    Directory of Open Access Journals (Sweden)

    Paul T Martin

    Full Text Available The expression of N-glycolylneuraminic acid (Neu5Gc and the cytotoxic T cell (CT carbohydrate can impact the severity of muscular dystrophy arising from the loss of dystrophin in mdx mice. Here, we describe the expression of these two glycans in skeletal muscles of dogs and humans with or without dystrophin-deficiency. Neu5Gc expression was highly reduced (>95% in muscle from normal golden retriever crosses (GR, n = 3 and from golden retriever with muscular dystrophy (GRMD, n = 5 dogs at multiple ages (3, 6 and 13 months when compared to mouse muscle, however, overall sialic acid expression in GR and GRMD muscles remained high at all ages. Neu5Gc was expressed on only a minority of GRMD satellite cells, CD8⁺ T lymphocytes and macrophages. Human muscle from normal (no evident disease, n = 3, Becker (BMD, n = 3 and Duchenne (DMD, n = 3 muscular dystrophy individuals had absent to very low Neu5Gc staining, but some punctate intracellular muscle staining was present in BMD and DMD muscles. The CT carbohydrate was localized to the neuromuscular junction in GR muscle, while GRMD muscles had increased expression on a subset of myofibers and macrophages. In humans, the CT carbohydrate was ectopically expressed on the sarcolemmal membrane of some BMD muscles, but not normal human or DMD muscles. These data are consistent with the notion that altered Neu5Gc and CT carbohydrate expression may modify disease severity resulting from dystrophin deficiency in dogs and humans.

  8. 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

  9. Leukocyte Adhesion Deficiency (LAD)

    Science.gov (United States)

    ... Content Marketing Share this: Main Content Area Leukocyte Adhesion Deficiency (LAD) LAD is an immune deficiency in ... are slow to heal also may have LAD. Treatment and Research Doctors prescribe antibiotics to prevent and ...

  10. Factor VII deficiency

    Science.gov (United States)

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

  11. 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) ...

  12. 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 ...

  13. 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 ...

  14. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... 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 disorders ...

  15. Iron deficiency and cognition

    OpenAIRE

    Hulthén, Lena

    2003-01-01

    Iron deficiency is the most prevalent nutritional disorder in the world. One of the most worrying consequences of iron deficiency in children is the alteration of behaviour and cognitive performance. In iron-deficient children, striking behavioural changes are observed, such as reduced attention span, reduced emotional responsiveness and low scores on tests of intelligence. Animal studies on nutritional iron deficiency show effects on learning ability that parallel the human studies. Despite ...

  16. 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 ...

  17. 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 ...

  18. Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency.

    LENUS (Irish Health Repository)

    McLean, Caitriona

    2009-01-01

    Alpha-1 antitrypsin (A1AT) is a 52 kDa serine protease inhibitor that is synthesized in and secreted from the liver. Although it is present in all tissues in the body the present consensus is that its main role is to inhibit neutrophil elastase in the lung. A1AT deficiency occurs due to mutations of the A1AT gene that reduce serum A1AT levels to <35% of normal. The most clinically significant form of A1AT deficiency is caused by the Z mutation (Glu342Lys). ZA1AT polymerizes in the endoplasmic reticulum of liver cells and the resulting accumulation of the mutant protein can lead to liver disease, while the reduction in circulating A1AT can result in lung disease including early onset emphysema. There is currently no available treatment for the liver disease other than transplantation and therapies for the lung manifestations of the disease remain limited. Gene therapy is an evolving field which may be of use as a treatment for A1AT deficiency. As the liver disease associated with A1AT deficiency may represent a gain of function possible gene therapies for this condition include the use of ribozymes, peptide nucleic acids (PNAs) and RNA interference (RNAi), which by decreasing the amount of aberrant protein in cells may impact on the pathogenesis of the condition.

  19. [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.

  20. Deficiency of a alpha-1-antitrypsin influences systemic iron homeostasis

    Science.gov (United States)

    Abstract Background: There is evidence that proteases and anti-proteases participate in the iron homeostasis of cells and living systems. We tested the postulate that alpha-1 antitrypsin (A1AT) polymorphism and the consequent deficiency of this anti-protease in humans are asso...

  1. Folate Deficiency in Chronic Pancreatitis

    Directory of Open Access Journals (Sweden)

    Gopalakrishna Rajesh

    2010-07-01

    Full Text Available Dear Sir, While there has been a spurt of interest in genetic alterations associated with pancreatitis in the past few years, interest in the role of environmental factors has largely focused on alcoholism and smoking with insufficient attention being paid to the contributions of nutritional deficiency, and the role of environmental toxins in the pathogenesis of pancreatitis. Braganza and Dormandy [1] argue convincingly about the role played by cytochrome P450 monooxygenases (especially CYP1A enzyme induction by xenobiotics and the resultant oxidative stress, as also the now increasingly recognized reductive stress posed by the metabolites in initiating pancreatic injury. Their article underlines the important part played by the deficiency of methyl and thiol molecules in different stages of the progression of pancreatic damage. Furthermore, they attempt to establish a link between environmental and genetic factors and bring in a holistic view on the etiopathogenesis of chronic pancreatitis. We have recently demonstrated lower plasma methionine levels in two cohorts of chronic pancreatitis patients; one of tropical chronic pancreatitis and the other, of alcoholic chronic pancreatitis as compared to healthy controls [2] which suggests that deficiency of methyl groups may be a factor in various forms of pancreatitis. Similarly, we have shown lower red cell glutathione levels in chronic pancreatitis patients with tropical chronic pancreatitis and alcoholic chronic pancreatitis, indicating deficiency of thiol molecules. In addition, we have demonstrated significantly higher levels of plasma total homocysteine in chronic pancreatitis patients than in healthy controls. Moreover, our study has shown that there is a deficiency of red cell folate in the majority of chronic pancreatitis patients, more so in tropical chronic pancreatitis; and that folate deficiency appeared to be the key factor in hyperhomocysteinemia in chronic pancreatitis patients

  2. 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.

  3. Lipoprotein lipase deficiency.

    OpenAIRE

    Shankar K; Bava H; Shetty J; Joshi M

    1997-01-01

    A rare case of a 3 month old child with lipoprotein lipase deficiency who presented with bronchopneumonia is reported. After noticing lipaemic serum and lipaemia retinalis, a diagnosis of hyperlipoproteinaemia was considered. Lipoprotein lipase deficiency was confirmed with post heparin lipoprotein lipase enzyme activity estimation.

  4. 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

  5. Iron deficiency in childhood

    NARCIS (Netherlands)

    L. Uijterschout

    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

  6. 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)....

  7. Vitamin deficiencies and excesses

    Science.gov (United States)

    Vitamins are essential nutrients that must be supplied exogenously either as part of a well balanced diet or as supplements. Deficiency states are uncommon in developed countries except, perhaps, among some food insecure families. In contrast, deficiency states are quite common in many developing ...

  8. 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 ...

  9. 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.

  10. 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 MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. OBJECTIVES: To evaluate incidence, clinical outcome, biochemical and molecular phenotype of MCAD cases detected in the first three years of newborn screening in British Columbia (BC). METHODS AND RESULTS: Medium chain...... is comparable to reports from other newborn screening programs. Persistence of elevated C8 levels and C8/C10 ratios in confirmed MCAD cases suggest that these are sensitive markers for newborn screening. Early detection and treatment have successfully prevented adverse health outcomes in patients with MCAD....

  11. 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.

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... 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 ...

  13. 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 ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Entire Site Health Topics News & Resources Intramural Research Public Health Topics Education & Awareness Resources Contact The Health ... Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, ...

  15. 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: February 22, 2012 Sleep Infographic Sleep Disorders & Insufficient Sleep: Improving Health through ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Health Topics Education & Awareness Resources Contact The Health Information Center Health Professionals Systematic Evidence Reviews & Clinical Practice ... and see the benefits of treatment. For more information about living with and managing iron-deficiency anemia, ...

  17. Manganese deficiency in plants

    DEFF Research Database (Denmark)

    Schmidt, Sidsel Birkelund; Jensen, Poul Erik; Husted, Søren

    2016-01-01

    Manganese (Mn) is an essential plant micronutrient with an indispensable function as a catalyst in the oxygen-evolving complex (OEC) of photosystem II (PSII). Even so, Mn deficiency frequently occurs without visual leaf symptoms, thereby masking the distribution and dimension of the problem...... restricting crop productivity in many places of the world. Hence, timely alleviation of latent Mn deficiency is a challenge in promoting plant growth and quality. We describe here the key mechanisms of Mn deficiency in plants by focusing on the impact of Mn on PSII stability and functionality. We also address...... the mechanisms underlying the differential tolerance towards Mn deficiency observed among plant genotypes, which enable Mn-efficient plants to grow on marginal land with poor Mn availability....

  18. 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 ... such as tiredness, poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency ...

  19. 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 ...

  20. 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 ...

  1. Adult growth hormone deficiency

    OpenAIRE

    Vishal Gupta

    2011-01-01

    Adult growth hormone deficiency (AGHD) is being recognized increasingly and has been thought to be associated with premature mortality. Pituitary tumors are the commonest cause for AGHD. Growth hormone deficiency (GHD) has been associated with neuropsychiatric-cognitive, cardiovascular, neuromuscular, metabolic, and skeletal abnormalities. Most of these can be reversed with growth hormone therapy. The insulin tolerance test still remains the gold standard dynamic test to diagnose AGHD. Growth...

  2. Clinical significance of complement deficiencies.

    Science.gov (United States)

    Pettigrew, H David; Teuber, Suzanne S; Gershwin, M Eric

    2009-09-01

    The complement system is composed of more than 30 serum and membrane-bound proteins, all of which are needed for normal function of complement in innate and adaptive immunity. Historically, deficiencies within the complement system have been suspected when young children have had recurrent and difficult-to-control infections. As our understanding of the complement system has increased, many other diseases have been attributed to deficiencies within the complement system. Generally, complement deficiencies within the classical pathway lead to increased susceptibility to encapsulated bacterial infections as well as a syndrome resembling systemic lupus erythematosus. Complement deficiencies within the mannose-binding lectin pathway generally lead to increased bacterial infections, and deficiencies within the alternative pathway usually lead to an increased frequency of Neisseria infections. However, factor H deficiency can lead to membranoproliferative glomerulonephritis and hemolytic uremic syndrome. Finally, deficiencies within the terminal complement pathway lead to an increased incidence of Neisseria infections. Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. Most inherited deficiencies of the complement system are autosomal recessive, but properidin deficiency is X-linked recessive, deficiency of C1 inhibitor is autosomal dominant, and mannose-binding lectin and factor I deficiencies are autosomal co-dominant. The diversity of clinical manifestations of complement deficiencies reflects the complexity of the complement system. PMID:19758139

  3. Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency

    Directory of Open Access Journals (Sweden)

    Caitriona McLean

    2009-01-01

    Full Text Available Caitriona McLean*, Catherine M Greene*, Noel G McElvaneyRespiratory Research Division, Dept. Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Ireland; *Each of these authors contributed equally to this workAbstract: Alpha-1 antitrypsin (A1AT is a 52 kDa serine protease inhibitor that is synthesized in and secreted from the liver. Although it is present in all tissues in the body the present consensus is that its main role is to inhibit neutrophil elastase in the lung. A1AT deficiency occurs due to mutations of the A1AT gene that reduce serum A1AT levels to <35% of normal. The most clinically significant form of A1AT deficiency is caused by the Z mutation (Glu342Lys. ZA1AT polymerizes in the endoplasmic reticulum of liver cells and the resulting accumulation of the mutant protein can lead to liver disease, while the reduction in circulating A1AT can result in lung disease including early onset emphysema. There is currently no available treatment for the liver disease other than transplantation and therapies for the lung manifestations of the disease remain limited. Gene therapy is an evolving field which may be of use as a treatment for A1AT deficiency. As the liver disease associated with A1AT deficiency may represent a gain of function possible gene therapies for this condition include the use of ribozymes, peptide nucleic acids (PNAs and RNA interference (RNAi, which by decreasing the amount of aberrant protein in cells may impact on the pathogenesis of the condition.Keywords: alpha-1 antitrypsin deficiency, siRNA, peptide nucleic acid, ribozymes

  4. 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

  5. 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

  6. 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 correct

  7. 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.

  8. Antepartum ornithine transcarbamylase deficiency.

    Science.gov (United States)

    Nakajima, Hitoshi; Sasaki, Yosuke; Maeda, Tadashi; Takeda, Masako; Hara, Noriko; Nakanishi, Kazushige; Urita, Yoshihisa; Hattori, Risa; Miura, Ken; Taniguchi, Tomoko

    2014-01-01

    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. PMID:25759629

  9. Iodine Deficiency and Human Development

    Directory of Open Access Journals (Sweden)

    M A Sviridonova

    2014-03-01

    Full Text Available Iodine is а vital microelements that are essential for the normal human development and functions. Iodine deficiency is a global problem: about 2 billion individuals worldwide suffer from a lack of iodine. Despite goiter is the most visually noticeable manifestation of iodine deficiency, the most significant consequence of the iodine deficiency is impaired neurodevelopment, particularly early in life. Moreover, moderate to severe iodine deficiency increases the risk of spontaneous abortion, low birth weight and infant mortality. Babies in utero affected by iodine deficiency are at increased risk of mental developmental disorders, cretinism is their extreme degree. In addition, moderate to severe iodine deficiency in childhood negatively affects somatic growth. Iodine deficiency compensation improves cognitive and motor function in children. Iodine prophylaxis of deficient populations is an extremely effective approach to reduce the substantial adverse effects of iodine deficiency throughout the life cycle.

  10. 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....

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ... Institutes of Health—shows how Susan, a full-time worker and student, has coped with having iron- ...

  12. 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

  13. 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...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to ...

  15. Glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... this page: //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 ...

  16. 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…

  17. Vitamin B12 And Folate Deficiency In a Hospital Population

    Directory of Open Access Journals (Sweden)

    Wadia RS

    2001-01-01

    Full Text Available This is a study of B12 and folate deficiency in a hospital population. We studied the incidence of their deficiency by evaluating blood levels in every tenth hospital admission. Among the 450 patients chosen, 417 had normal levels of both, 2 had deficiency of folate alone (folate < 3ng.ml, 3 had B12 deficiency alone (B12<200pg/mland 11 had deficiency of both (total 3.5%. In addition 12 had borderline b12 level(200-300pg/ml, 2 had borderline folate level (3-4ng/ml(0.44%and 3 had borderline levels for both (0.66% . Thus 33% had definite or borderline deficiency. This deficiency was more common in the elderly and in patients on vegetarian diet (5.7% definite deficiency, 8.8% borderline levels compared to those on a non-vegetarian diet. During the 2 1/2 years of the study a total of 99 definite deficiency and 69 borderline deficiency were seen. In the definite deficiency group, 22.3% had neuropathy, 6.1% had evidence of myelopathy, 18.2% had neuropsychiatric changes (memory defect, dementia, behavioural abnormalities, depression and 4.1% had cerebellar signs. The neurologic findings in the borderline group were almost similar (neuropathy 29%, myelopathy 8.6% and neuropsychiatric changes 18.4%. High mean corpuscular volume (MCV> 95 was seen in 69% of those with both B12 and folate deficiency, 43.4% with B12 deficiency and 61.15 with folate deficiency. Hypersegmented polymorphs were seen in 21.7% with B12 deficiency, 27.5% with folate both B12 and folate deficiency had either megaloblastosis or dimorphic picture. It is to be noted that B12 and folate deficiency in this population was more frequent than we previously considered and reliance on haematologic parameters will miss half to one third of all cases. As expected B12 deficiency is more frequent in vegetarians than non-vegetarians.

  18. Transient partial growth hormone deficiency due to zinc deficiency.

    Science.gov (United States)

    Nishi, Y; Hatano, S; Aihara, K; Fujie, A; Kihara, M

    1989-04-01

    We present here a 13-year-old boy with partial growth hormone deficiency due to chronic mild zinc deficiency. When zinc administration was started, his growth rate, growth hormone levels, and plasma zinc concentrations increased significantly. His poor dietary intake resulted in chronic mild zinc deficiency, which in turn could be the cause of a further loss of appetite and growth retardation. There was also a possibility of renal zinc wasting which may have contributed to zinc deficiency. Zinc deficiency should be carefully ruled out in patients with growth retardation. PMID:2708733

  19. 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

  20. 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.

  1. 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

  2. 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.

  3. Vitamin D Deficiency in Patients with Tuberculosis

    International Nuclear Information System (INIS)

    Objective: To determine the frequency and association of Vitamin D deficiency in patients with tuberculosis. Study Design: Case control study. Place and Duration of Study: Medical Department, Combined Military Hospital, Kharian, from July 2010 to June 2012. Methodology: One hundred and five outdoor patients of tuberculosis were selected with 255 gender matched controls. Tuberculosis was diagnosed by presence of acid fast bacilli in sputum smears, positive culture for Mycobacterium tuberculosis or demonstration of chronic caseating granulomatous inflammation in tissue specimens. Controls were drawn randomly from general population. Serum 25 hydroxyvitamin D [25 (OH) D3] levels < 25 ng/ml was considered Vitamin D deficiency. The results were analyzed on SPSS version 17. Results: Mean Vitamin D levels were 23.23 A+- 6.81 ng/ml in cases, 29.27 A+- 8.89 ng/ml in controls (p < 0.0001). Vitamin D deficiency was found in 57% of cases and 33% controls (p < 0.0001). Mean Vitamin D levels were significantly lower in females with tuberculosis (20.84 ng/ml) as compared to males (25.03 ng/ml, p = 0.002). Mean BMI in patients of tuberculosis with Vitamin D deficiency were 19.51 A+- 1.77 kg/m2 and in patients with normal Vitamin D were 21.65 A+- 1.79 kg/m2 (p < 0.0001). Mean Vitamin D levels in patients with multi-drug resistant tuberculosis was lower to a mean of 15.41 A+- 4.67 ng/ml (p < 0.0001). Conclusion: There is significant deficiency of Vitamin D in patients with tuberculosis as compared to controls. This deficiency is more pronounced in females, individuals with low BMI, extra pulmonary and MDR tuberculosis. (author)

  4. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Things to Know About Zika & Pregnancy 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 ...

  5. Vitamin D Deficiency Among Professional Basketball Players

    Science.gov (United States)

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

    2016-01-01

    Background: 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. Hypothesis: There is a high prevalence of vitamin D deficiency or insufficiency among players attending the National Basketball Association (NBA) Combine. Study Design: Cross-sectional study; Level of evidence, 3. Methods: 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). Results: 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

  6. 当归-红花不同配比对血虚小鼠补血作用的比较研究%Comparing tonifying blood effects of Danggui-Honghua with different proportions on blood deficiency mice

    Institute of Scientific and Technical Information of China (English)

    李淑娇; 唐于平; 李伟霞; 沈娟; 郭建明; 段金廒

    2014-01-01

    Aim To observe the differences of tonify-ing blood effect for the combination of Danggui and Honghua ( GH) with different proportions on blood de-ficiency mice, and choose the proportion of GH which has the optimal tonifying blood effect. Methods The blood deficient mice model was induced by injection of phenylhydrazine and cyclophosphamide. On the basis of multi-attribute comprehensive index method, the op-timal dose was determined through three doses of GH 1: 1 , which was the highest frequency proportion of GH used in the “Dictionary of Chinese Medicine Prescrip-tions”. According to the optimal dose, the change reg-ulation of tonifying blood effect of GH with different proportions was observed. Results Among three do- ses (1, 3 and 5 times of clinical dose), the tonifying blood effect of GH was best when the dosing concentra-tion of GH was clinical dose. Among nine proportions (1 : 0, 4 : 1, 2 : 1, 3 : 2, 1 : 1, 2 : 3, 1 : 2, 1 : 4 and 0 : 1), GH 1 : 1 had the best effect. Conclusion The results are consistent with regulations of medi-cine usage that GH 1 : 1 has the highest frequency used in Herbal Formulae, which could provide scientif-ic basis for more effective application of Danggui and Honghua in modern clinic medicine.%目的:观察当归、红花两药味不同配比对血虚小鼠的补血作用差异,优选当归-红花配伍补血作用的最佳配比。方法采用乙酰苯肼与环磷酰胺联合造模法复制小鼠血虚模型。基于多指标综合指数法,首先以《中医方剂大辞典》数据库中出现频次最高的当归-红花1:1配比为代表,优选当归、红花配伍补血作用的最佳浓度;然后采用优选的最佳浓度来观察当归、红花不同配比的补血作用变化规律。结果在3个不同浓度(分别为当归、红花临床等效量的1、3、5倍)下,当归-红花剂量为临床等效量时的总补血效应最好;在当归、红花的9个不同配比(1:0、4:1、2:1、3:2、1

  7. 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.

  8. 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

  9. Comparative study on 2,2′,4,5,5′-pentachlorobiphenyl-mediated decrease in serum thyroxine level between C57BL/6 and its transthyretin-deficient mice

    International Nuclear Information System (INIS)

    The relationships between the changes in the levels of serum total thyroxine (T4), serum T4-transthyretin (TTR) complex, and accumulation of T4 in tissues by 2,2′,4,5,5′-pentachlorobiphenyl (PentaCB) were examined using wild-type C57BL/6 (WT) and its TTR-deficient (TTR-null) mice. The constitutive level of serum total T4 was much higher in WT mice than in TTR-null mice. In WT mice 4 days after a single intraperitoneal injection with PentaCB (112 mg/kg), serum total T4 level was significantly decreased along with a decrease in serum T4–TTR complex, and the levels of serum total T4 in the PentaCB-treated WT mice were almost the same to those in PentaCB-untreated (control) TTR-null mice. In addition, a slight decrease in serum total T4 by PentaCB treatment was observed in TTR-null mice. Furthermore, clearance of [125I]T4 from the serum after [125I]T4-administration was promoted by the PentaCB-pretreatment in either strain of mice, especially WT mice. On the other hand, accumulation level of [125I]T4 in the liver, but not in extrahepatic tissues, was strikingly enhanced in the PentaCB-pretreated WT and TTR-null mice. Furthermore, in both strains of mice, PentaCB-pretreatment led to significant increases in the steady-state distribution volume of [125I]T4 and the concentration ratio of the liver to serum. The present findings demonstrate that PentaCB-mediated decrease in serum T4 level occurs mainly through increase in accumulation level of T4 in the liver and further indicate that the increased accumulation of T4 in the liver of WT mice is primarily dependent on the PentaCB-mediated inhibition of serum T4–TTR complex formation.

  10. Comparative study on 2,2′,4,5,5′-pentachlorobiphenyl-mediated decrease in serum thyroxine level between C57BL/6 and its transthyretin-deficient mice

    Energy Technology Data Exchange (ETDEWEB)

    Kato, Yoshihisa, E-mail: kato@kph.bunri-u.ac.jp [Kagawa School of Pharmaceutical Sciences, Tokushima Bunri University, Sanuki, Kagawa 769-2193 (Japan); Tamaki, Sekihiro [School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 422-8526 (Japan); Haraguchi, Koichi [Daiichi College of Pharmaceutical Sciences, Fukuoka 815-8511 (Japan); Ikushiro, Shin-ichi [Faculty of Engineering, Toyama Prefectural University, Toyama 939-0398 (Japan); Sekimoto, Masashi [School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 422-8526 (Japan); Ohta, Chiho [Faculty of Nutritional Sciences, Nakamura Gakuen University, Fukuoka 814-0198 (Japan); Endo, Tetsuya [Faculty of Pharmaceutical Sciences, Health Science University of Hokkaido, Hokkaido 061-0293 (Japan); Koga, Nobuyuki [Faculty of Nutritional Sciences, Nakamura Gakuen University, Fukuoka 814-0198 (Japan); Yamada, Shizuo; Degawa, Masakuni [School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 422-8526 (Japan)

    2012-09-15

    The relationships between the changes in the levels of serum total thyroxine (T{sub 4}), serum T{sub 4}-transthyretin (TTR) complex, and accumulation of T{sub 4} in tissues by 2,2′,4,5,5′-pentachlorobiphenyl (PentaCB) were examined using wild-type C57BL/6 (WT) and its TTR-deficient (TTR-null) mice. The constitutive level of serum total T{sub 4} was much higher in WT mice than in TTR-null mice. In WT mice 4 days after a single intraperitoneal injection with PentaCB (112 mg/kg), serum total T{sub 4} level was significantly decreased along with a decrease in serum T{sub 4}–TTR complex, and the levels of serum total T{sub 4} in the PentaCB-treated WT mice were almost the same to those in PentaCB-untreated (control) TTR-null mice. In addition, a slight decrease in serum total T{sub 4} by PentaCB treatment was observed in TTR-null mice. Furthermore, clearance of [{sup 125}I]T{sub 4} from the serum after [{sup 125}I]T{sub 4}-administration was promoted by the PentaCB-pretreatment in either strain of mice, especially WT mice. On the other hand, accumulation level of [{sup 125}I]T{sub 4} in the liver, but not in extrahepatic tissues, was strikingly enhanced in the PentaCB-pretreated WT and TTR-null mice. Furthermore, in both strains of mice, PentaCB-pretreatment led to significant increases in the steady-state distribution volume of [{sup 125}I]T{sub 4} and the concentration ratio of the liver to serum. The present findings demonstrate that PentaCB-mediated decrease in serum T{sub 4} level occurs mainly through increase in accumulation level of T{sub 4} in the liver and further indicate that the increased accumulation of T{sub 4} in the liver of WT mice is primarily dependent on the PentaCB-mediated inhibition of serum T{sub 4}–TTR complex formation.

  11. [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.

  12. Iatrogenic limbal stem cell deficiency.

    OpenAIRE

    Holland, E J; Schwartz, G S

    1997-01-01

    PURPOSE: To describe a group of patients with limbal stem cell (SC) deficiency without prior diagnosis of a specific disease entity known to be causative of SC deficiency. METHODS: We performed a retrospective review of the records of all patients with ocular surface disease presenting to the University of Minnesota between 1987 and 1996. Patients were categorized according to etiology of limbal deficiency. Patients who did not have a specific diagnosis previously described as being causative...

  13. Evaluation of Ferric and Ferrous Iron Therapies in Women with Iron Deficiency Anaemia

    OpenAIRE

    Ilhami Berber; Halit Diri; Mehmet Ali Erkurt; Ismet Aydogdu; Emin Kaya; Irfan Kuku

    2014-01-01

    Introduction. Different ferric and ferrous iron preparations can be used as oral iron supplements. Our aim was to compare the effects of oral ferric and ferrous iron therapies in women with iron deficiency anaemia. Methods. The present study included 104 women diagnosed with iron deficiency anaemia after evaluation. In the evaluations performed to detect the aetiology underlying the iron deficiency anaemia, it was found and treated. After the detection of the iron deficiency anaemia aetiolog...

  14. Zinc deficiency and eating disorders.

    Science.gov (United States)

    Humphries, L; Vivian, B; Stuart, M; McClain, C J

    1989-12-01

    Decreased food intake, a cyclic pattern of eating, and weight loss are major manifestations of zinc deficiency. In this study, zinc status was evaluated in 62 patients with bulimia and 24 patients with anorexia nervosa. Forty percent of patients with bulimia and 54% of those with anorexia nervosa had biochemical evidence of zinc deficiency. The authors suggest that for a variety of reasons, such as lower dietary intake of zinc, impaired zinc absorption, vomiting, diarrhea, and binging on low-zinc foods, patients with eating disorders may develop zinc deficiency. This acquired zinc deficiency could then add to the chronicity of altered eating behavior in those patients. PMID:2600063

  15. 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.

  16. 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...

  17. 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.

  18. 黄花苜蓿与蒺藜苜蓿对土壤低磷胁迫适应策略的比较研究%Comparative studies on adaptive strategies of Medicago falcata and M.truncatula to phosphorus deficiency in soil

    Institute of Scientific and Technical Information of China (English)

    高艳; 田秋英; 石凤翎; 李凌浩; 张文浩

    2011-01-01

    Aims Phosphorus (P) is an essential macronutrient for plant growth and development. Phosphorus deficiency is one of the major constraints limiting plant growth in many types of soils. To cope with P deficiency, plants have evolved numerous strategies including changes in root architecture and exudation of organic acids in general and citrate in particular to maximize P uptake and mobilize soil P. To unravel the adaptive strategies of Medicago falcata, a native legume species in temperate grassland in northern China, and M. truncatula, a legume model plant,to P deficiency, we compared biomass, root traits and exudation of citrate of the two species under two levels of P supply.Methods Pot experiments were conducted to compare biomass, root traits and exudation of citrate in M. falcata and M. truncatula under two levels of P supply (500 and 5 μmol·L-1).Important findings Shoot biomass was reduced while root biomass was not affected in both M. falcata and M.truncatula when exposed to P-deficient medium, leading to an increase in root/shoot ratio. The lateral root length and total root length of M. falcata seedlings grown in P-deficient medium were markedly reduced compared to those grown in P-sufficient medium, while no significant effect of P deficiency on these parameters in M. truncatula seedlings was observed. A greater amount of citrate was exuded from M. falcata roots than M. truncatula roots under P-sufficient conditions. Citrate exudation from both species was stimulated in response to P deficiency with the stimulatory effect being much more evident in M. falcata than in M. truncatula. Taken together,these findings reveal that M. falcata and M. truncatula have developed different strategies to cope with P deficiency. Medicagofalcata had a small root system and exuded large amount of citrate to mobilize soil P bound to soil particles. In contrast, M. truncatula had limited capacity to mobilize soil P by releasing citrate, but it maintained a large root system

  19. Prospective Safety Surveillance of GH-Deficient Adults: Comparison of GH-Treated vs Untreated Patients.

    OpenAIRE

    Hartman, Mark L.; Xu, Rong; Crowe, Brenda J; Robison, Leslie L.; Erfurth, Eva Marie; Kleinberg, David L; Zimmermann, Alan G.; Woodmansee, Whitney W.; Cutler, Gordon B.; Chipman, John J; Melmed, Shlomo

    2013-01-01

    Context: In clinical practice, the safety profile of GH replacement therapy for GH-deficient adults compared with no replacement therapy is unknown. Objective: The objective of this study was to compare adverse events (AEs) in GH-deficient adults who were GH-treated with those in GH-deficient adults who did not receive GH replacement. Design and Setting: This was a prospective observational study in the setting of US clinical practices. Patients and Outcome Measures: AEs were compared between...

  20. 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

  1. 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. PMID:25636824

  2. How prevalent is vitamin B(12) deficiency among vegetarians?

    Science.gov (United States)

    Pawlak, Roman; Parrott, Scott James; Raj, Sudha; Cullum-Dugan, Diana; Lucus, Debbie

    2013-02-01

    Vegetarians are at risk for vitamin B(12) (B12) deficiency due to suboptimal intake. The goal of the present literature review was to assess the rate of B12 depletion and deficiency among vegetarians and vegans. Using a PubMed search to identify relevant publications, 18 articles were found that reported B12 deficiency rates from studies that identified deficiency by measuring methylmalonic acid, holo-transcobalamin II, or both. The deficiency rates reported for specific populations were as follows: 62% among pregnant women, between 25% and almost 86% among children, 21-41% among adolescents, and 11-90% among the elderly. Higher rates of deficiency were reported among vegans compared with vegetarians and among individuals who had adhered to a vegetarian diet since birth compared with those who had adopted such a diet later in life. The main finding of this review is that vegetarians develop B12 depletion or deficiency regardless of demographic characteristics, place of residency, age, or type of vegetarian diet. Vegetarians should thus take preventive measures to ensure adequate intake of this vitamin, including regular consumption of supplements containing B12.

  3. INCIDENCE OF ERYTHROCYTE GLUCOSE-6-PHOSPHATE- DEHYDROGENASE DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Sh. Rahbar

    1974-06-01

    The fluorescent spot technique was used for screening and qualitative determination of G-6-PD in erythrocytes. This technique was compared with other methods of G-6-PD enzyme assay and proved to be very reliable. Qualitative enzyme estimation was carried out with spectrophotometer methods. A total of 738 specimens tested and some degree of enzyme deficiencies were detected. In 20 specimens there was a complete enzyme deficiency and in 5 cases the enzyme activity was between 15 to 50 percent of normal subject. The data suggests, the blood bank should be warned of transfusion of enzyme deficient bloods to the patients with fauvism.

  4. Glucose-6-Phosphate Dehydrogenase Deficiency Overview

    Science.gov (United States)

    ... Drugs GARD Information Navigator FAQs About Rare Diseases Glucose-6-phosphate dehydrogenase deficiency Title Other Names: G6PD ... G6PD deficiency Categories: Newborn Screening Summary Summary Listen Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary ...

  5. Genetics Home Reference: factor V deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions factor V deficiency factor V deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Factor V deficiency is a rare bleeding disorder. The signs ...

  6. Monocular Elevation Deficiency - Double Elevator Palsy

    Science.gov (United States)

    ... Español Condiciones Chinese Conditions Monocular Elevation Deficiency/ Double Elevator Palsy En Español Read in Chinese What is monocular elevation deficiency (Double Elevator Palsy)? Monocular Elevation Deficiency, also known by the ...

  7. Genetics Home Reference: leptin receptor deficiency

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions leptin receptor deficiency leptin receptor deficiency Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Leptin receptor deficiency is a condition that causes severe ...

  8. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  9. Genetics Home Reference: factor XIII deficiency

    Science.gov (United States)

    ... InfoSearch: Factor XIII deficiency Factor XIII Registry Database: Introduction to Factor XIII Deficiency MalaCards: factor xiii deficiency ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  10. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions combined pituitary hormone deficiency combined pituitary hormone deficiency Enable Javascript to view the ... boxes. Print All Open All Close All Description Combined pituitary hormone deficiency is a condition that causes ...

  11. [Iodine deficiency during pregnancy ].

    Science.gov (United States)

    de Luis, D A; Aller, R; Izaola, O

    2005-09-01

    Iodine is an essential micronutrient, it would be administered every day with our diet. The main role of this micronutrient is the synthesis of thyroid hormone. Thyroid hormones are related with brain development and metabolic regulation. Iodine deficit is related with goitre, and an important problem "diseases related with iodine deficiency", including high rate of neonatal mortality, decrease of intelligence, delayed of growth, high rate of aborts and congenital abnormalities.A risk group is pregnant women. Some authors have been demonstrated the utility of iodine supplementation during pregnancy. A systematic review of Cochrane group has shown that iodine supplementation during pregnancy decreased neonatal mortality RR 0.71 (0.56-0.9), and decrease the incidence of cretinism in children under 4 years RR 0.27 (0.12-0.6). As final recommendations, a program in pregnant women must be development to treat with iodine such as we make with folic acid. Pills with iron and iodine (1 mg iron and 25 ug iodine) have been demonstrated better results that pills with iodine. Tablets are the main presentation due to the role of the women in our Society and the work time. Programs of iodine enriched salt have been demonstrated a follow up of 50%. PMID:16386080

  12. Iodine deficiency disorders.

    Science.gov (United States)

    Elliott, T C

    1987-01-01

    Iodine deficiency disorder (IDD) affects 800 million people in the world, yet iodine supplementation is one of the most cost-effective nutritional interventions known. Iodine is incorporated into thyroid hormones, necessary for regulating metabolic rate, growth, and development of the brain and nervous system. IDD may appear as goiter in adults, usually not a serious problem, or in cretinism in children, which is marked by severe mental and physical retardation, with irreversible hearing and speech defects and either deaf-mutism, squint and paralysis, or stunting and edema. Children supplemented by age 1 or 2 can sometimes be helped. Foods contain variable amounts of iodine dependent on the soil where they are grown, hence mountainous and some inland regions have high goiter and IDD incidence. There are also goitrogenic foods, typically those of the cabbage family. Diagnosis is clinical or by blood tests for thyroid hormone levels and ratios. Finger-stick methods are available. Prevention of IDD is simple with either iodized salt or flour, iodinated central water supplies, injectable or oral iodine-containing oil. All cost about $.04 per person per year, except injections, which cost about $1 per person, but have the advantage that they could be combined with immunizations. Local problems with supplements are loss of iodine in salt with storage in tropics, and local production of cheaper uniodinated salt. Emphasis should be given to pregnant women and young children. There is no harm in giving pregnant women iodine injections in 2nd or 3rd trimester. PMID:12343033

  13. Differential diagnosis of tetrahydrobiopterin deficiency.

    Science.gov (United States)

    Niederwieser, A; Ponzone, A; Curtius, H C

    1985-01-01

    Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4) deficiency by HPLC of urine pterins and BH4 load test. One patient with GTP cyclohydrolase I deficiency, 36 patients with dihydrobiopterin synthetase (DHBS) deficiency (of which six were in the newborn and 30 in the older children) and 14 with dihydropteridine reductase deficiency (DHPR) were found. All 37 patients with defective BH4 biosynthesis responded to a BH4 load by lowering of the elevated serum phenylalanine concentration but four of 14 patients with DHPR deficiency did not. Measurement of DHPR activity in blood spots on Guthrie cards is recommended. Since subvariants of patients with BH4 deficiency exist, homovanillic acid, 5-hydroxyindole acetic acid, pterins, phenylalanine, and tyrosine in cerebrospinal fluid should be measured for diagnosis and the control of therapy. The activity of the phosphate-eliminating enzyme (a key enzyme in BH4 biosynthesis and part of "DHBS") was measured in human liver and activities of approx. 1 n U (mg protein)-1 were found. In the liver biopsy of a patient with DHBS deficiency no activity (less than 3% of controls) was demonstrated. PMID:3930839

  14. 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.

  15. Alpha-1-antitripsin deficiency: the need of a new diagnostic algorithm for improving the diagnostic ability of perinatologists and pediatricians

    Directory of Open Access Journals (Sweden)

    Gavino Faa

    2015-02-01

    Full Text Available Caution should be taken in considering immunoelectrofocusing (IEF as the best method for the diagnosis of alpha-1-antitrypsin (A1AT deficiency, particularly in some population, including Sardinians, in which a M-like variant represents the most frequent pathological A1AT variant. Regarding the future, my opinion is that the algorithm generally suggested for reaching a proper diagnosis of this disease should be completely changed. The cut-off of the A1AT serum values should be reconsidered, not to avoid the diagnosis of a number of heterozygous subjects who may be affected by liver and/or lung disease. Given that the two A1AT alleles are co-dominant, and since A1AT is a phase acute protein, in all heterozygous PiMZ or PiM/M-Cagliari subjects carrying an inflammation, the M allele is induced to produce high quantities of A1AT, whose serum levels may reach normal values. In these cases, PCR serum levels should be evaluated and, when increased, the diagnosis of A1AT deficiency should not be excluded even in the presence of serum A1AT levels within the normal range. Gene sequencing should be included, on the basis of our experience, in all neonates and pediatric patients with liver or lung disease of unknown origin, including asthma, avoiding IEF. Finally, for a screening in the perinatal period, I suggest the accurate examination of the electrophoresis of serum proteins. With a similar new approach, I think that we will transform A1AT deficiency from a rare disease into a previously rarely diagnosed disease, changing completely the epidemiology of this complex and fascinating metabolic disease.

  16. Clinical manifestations of zinc deficiency.

    Science.gov (United States)

    Prasad, A S

    1985-01-01

    The essentiality of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, chronic renal diseases, following uses of certain drugs such as penicillamine for Wilson's disease and diuretics in some cases, and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. In pregnancy and during periods of growth the requirement of zinc is increased. The clinical manifestations in severe cases of zinc deficiency include bullous-pustular dermatitis, alopecia, diarrhea, emotional disorder, weight loss, intercurrent infections, hypogonadism in males; it is fatal if unrecognized and untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities, and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss, and hyperammonemia. Zinc is a growth factor. Its deficiency adversely affects growth in many animal species and humans. Inasmuch as zinc is needed for protein and DNA synthesis and for cell division, it is believed that the growth effect of zinc is related to its effect on protein synthesis. Whether or not zinc is required for the metabolism of somatomedin needs to be investigated in the future. Testicular functions are affected adversely as a result of zinc deficiency in both humans and experimental animals. This effect of zinc is at the end organ level; the hypothalamic-pituitary axis is intact in zinc-deficient subjects. Inasmuch as zinc is intimately involved in cell division, its deficiency may adversely affect testicular size and thus affect its functions. Zinc is required for the functions of several enzymes and whether or not it has an enzymatic role in steroidogenesis is not known at present

  17. Genetics Home Reference: adenosine monophosphate deaminase deficiency

    Science.gov (United States)

    ... links) CLIMB: Children Living with Inherited Metabolic Diseases Muscular Dystrophy Association: Myoadenylate Deaminase Deficiency Genetic Testing Registry (1 link) Muscle AMP deaminase deficiency ...

  18. Metabolomics Approach Reveals Integrated Metabolic Network Associated with Serotonin Deficiency

    Science.gov (United States)

    Weng, Rui; Shen, Sensen; Tian, Yonglu; Burton, Casey; Xu, Xinyuan; Liu, Yi; Chang, Cuilan; Bai, Yu; Liu, Huwei

    2015-07-01

    Serotonin is an important neurotransmitter that broadly participates in various biological processes. While serotonin deficiency has been associated with multiple pathological conditions such as depression, schizophrenia, Alzheimer’s disease and Parkinson’s disease, the serotonin-dependent mechanisms remain poorly understood. This study therefore aimed to identify novel biomarkers and metabolic pathways perturbed by serotonin deficiency using metabolomics approach in order to gain new metabolic insights into the serotonin deficiency-related molecular mechanisms. Serotonin deficiency was achieved through pharmacological inhibition of tryptophan hydroxylase (Tph) using p-chlorophenylalanine (pCPA) or genetic knockout of the neuronal specific Tph2 isoform. This dual approach improved specificity for the serotonin deficiency-associated biomarkers while minimizing nonspecific effects of pCPA treatment or Tph2 knockout (Tph2-/-). Non-targeted metabolic profiling and a targeted pCPA dose-response study identified 21 biomarkers in the pCPA-treated mice while 17 metabolites in the Tph2-/- mice were found to be significantly altered compared with the control mice. These newly identified biomarkers were associated with amino acid, energy, purine, lipid and gut microflora metabolisms. Oxidative stress was also found to be significantly increased in the serotonin deficient mice. These new biomarkers and the overall metabolic pathways may provide new understanding for the serotonin deficiency-associated mechanisms under multiple pathological states.

  19. Determining Functional Vitamin B12 Deficiency in the Elderly

    Science.gov (United States)

    Khodabandehloo, Niloofar; Vakili, Masoud; Hashemian, Zahra; Zare Zardini, Hadi

    2015-01-01

    Background: Elevated concentration of serum total homocysteine usually occurs in vitamin B-12 deficiency. This metabolite can be measured and used for screening functional vitamin B-12 deficiency. Objectives: We assessed functional vitamin B12 deficiency in Tehranian elderly admitted to elderly research center, University of Social Welfare and Rehabilitation Sciences. Patients and Materials: A cross-sectional study was performed on 232 elderly admitted to elderly research center in Tehran, Iran in 2012. According to other studies, individuals were classified into two groups: high risk of vitamin B-12 deficiency (homocysteine (> 15 micmol/L). Results: Cut-off of 15.0 pmol/L for homocysteine was identified for persons with normal or elevated concentrations. Among persons aged 65–74 and ≥ 75 years, respectively, 56% and 93% were at high risk of vitamin B-12 deficiency. Conclusions: The prevalence of B12 deficiency was higher in this study compared to other studies, so more attention and massive efficacious policy should be designed to reduce the deficiency of this vitamin. PMID:26430518

  20. Evolutionary Processes and Mental Deficiency

    Science.gov (United States)

    Spitz, Herman H.

    1973-01-01

    The author hypothesizes that central nervous system damage of deficiency associated with mental retardation affects primarily those cortical processes which developed at a late stage in man's evolutionary history. (Author)

  1. [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. PMID:25765687

  2. Cutaneous findings of nutritional deficiencies in children.

    Science.gov (United States)

    Goskowicz, M; Eichenfield, L F

    1993-08-01

    Nutritional deficiencies may be associated with a variety of cutaneous findings in children. This review emphasizes new developments relating to cutaneous findings of nutritional deficiencies. Zinc deficiency, acrodermatitis enteropathica, and acrodermatitis enteropathica-like eruptions are seen with a variety of conditions including cystic fibrosis, anorexia nervosa, and breastfeeding. Similar cutaneous findings not related to zinc deficiency may also occur with such metabolic disorders as methylmalonic aciduria, multiple carboxylase deficiency, essential fatty acid deficiency and other amino acid deficiencies. Vitamin K deficiency is associated with hemorrhagic disease of the newborn and coagulopathy. Vitamin A deficiency presents with a variety of systemic findings and distinctive dermatologic findings. Acute vitamin A deficiency may be seen in children infected with measles and is associated with more severe disease. The systemic and cutaneous findings of vitamin C deficiency, scurvy, are discussed. PMID:8374671

  3. Zinc and its deficiency diseases.

    Science.gov (United States)

    Evans, G W

    1986-01-01

    The pervasive role of zinc in the metabolic function of the body results from its function as a cofactor of a multitude of enzymes. Zinc is found in every tissue in the body, and because zinc metalloenzymes are found in every known class of enzymes, the metal has a function in every conceivable type of biochemical pathway. Symptoms resulting from zinc deficiency are as diverse as the enzymes with which the metal is associated. If chronic, severe, and untreated, zinc deficiency can be fatal. Less drastic symptoms include infections, hypogonadism, weight loss, emotional disturbance, dermatitis, alopecia, impaired taste acuity, night blindness, poor appetite, delayed wound healing, and elevated blood ammonia levels. Many symptoms of zinc deficiency result from poor diet consumption, but often the most severe symptoms result from other factors including excessive alcohol use, liver diseases, malabsorption syndromes, renal disease, enteral or parenteral alimentation, administration of sulfhydryl-containing drugs, and sickle cell disease. The most severe symptoms of zinc deficiency occur in young children affected with the autosomal-recessive trait, acrodermatitis enteropathica. This disease results in decreased synthesis of picolinic acid which causes an impaired ability to utilize zinc from common food. Because simple laboratory analyses are often not reliable in determining zinc nutriture of a patient, those symptoms caused by suspected zinc deficiency are best verified by the oral administration of zinc dipicolinate. This zinc compound is efficacious and safe and would provide an accurate means of identifying symptoms that do result from zinc deficiency. PMID:3514057

  4. Fatal cerebral edema associated with serine deficiency in CSF.

    Science.gov (United States)

    Keularts, Irene M L W; Leroy, Piet L J M; Rubio-Gozalbo, Estela M; Spaapen, Leo J M; Weber, Biene; Dorland, Bert; de Koning, Tom J; Verhoeven-Duif, Nanda M

    2010-12-01

    Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and enzyme measurement (in one patient) excluded 3-PGDH deficiency. Deficiencies in other serine biosynthesis enzymes were highly unlikely on clinical grounds. On basis of the fasting state, ketone bodies and lactate in plasma, urine and CSF, we speculate that reduced serine levels were due to its use as gluconeogenic substrate, conversion to pyruvate by brain serine racemase or decreased L-serine production because of a lack of glucose. These are the first strikingly similar cases of patients with a clear secondary serine deficiency associated with a toxic encephalopathy.

  5. Treatment for women with postpartum iron deficiency anaemia

    DEFF Research Database (Denmark)

    Markova, Veronika; Norgaard, Astrid; Jørgensen, Karsten Juhl;

    2015-01-01

    BACKGROUND: Postpartum iron deficiency anaemia is caused by bleeding or inadequate dietary iron intake/uptake. This condition is defined by iron deficiency accompanied by a lower than normal blood haemoglobin concentration, although this can be affected by factors other than anaemia and must...... and harms of the available treatment modalities for women with postpartum iron deficiency anaemia. SEARCH METHODS: The Cochrane Pregnancy and Childbirth Group's Trials Register (9 April 2015); the WHO International Clinical Trials Registry Portal (ICTRP), and the Latin-American and Caribbean Health Sciences...... Literature database (LILACS) (8 April 2015) and reference lists of retrieved studies. SELECTION CRITERIA: We included published, unpublished and ongoing randomised controlled trials that compared a treatment for postpartum iron deficiency anaemia with placebo, no treatment, or another treatment...

  6. Efficiency and deficiency considerations in the symmetry problem

    NARCIS (Netherlands)

    Albers, W.

    1975-01-01

    Usually, two statistical procedures A and B are compared by means of their asymptotic relative efficiency e. If e= 1, however, it is more informative to compare A and B by means of the concept of deficiency, which was introduced by Hodges and Lehmann [7]. In the present paper we use this concept for

  7. [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.

  8. Obesity and iron deficiency: a quantitative meta-analysis.

    Science.gov (United States)

    Zhao, L; Zhang, X; Shen, Y; Fang, X; Wang, Y; Wang, F

    2015-12-01

    Hypoferraemia (i.e. iron deficiency) was initially reported among obese individuals several decades ago; however, whether obesity and iron deficiency are correlated remains unclear. Here, we evaluated the putative association between obesity and iron deficiency by assessing the concentration of haematological iron markers and the risks associated with iron deficiency in both obese (including overweight) subjects and non-overweight participants. We performed a systematic search in the databases PubMed and Embase for relevant research articles published through December 2014. A total of 26 cross-sectional and case-control studies were analysed, comprising 13,393 overweight/obese individuals and 26,621 non-overweight participants. Weighted or standardized mean differences of blood iron markers and odds ratio (OR) of iron deficiency were compared between the overweight/obese participants and the non-overweight participants using a random-effects model. Compared with the non-overweight participants, the overweight/obese participants had lower serum iron concentrations (weighted mean difference [WMD]: -8.37 μg dL(-1) ; 95% confidence interval [CI]: -11.38 to -5.36 μg dL(-1) ) and lower transferrin saturation percentages (WMD: 2.34%, 95% CI: -3.29% to -1.40%). Consistent with this finding, the overweight/obese participants had a significantly increased risk of iron deficiency (OR: 1.31; 95% CI: 1.01-1.68). Moreover, subgroup analyses revealed that the method used to diagnose iron deficiency can have a critical effect on the results of the association test; specifically, we found a significant correlation between iron deficiency and obesity in studies without a ferritin-based diagnosis, but not in studies that used a ferritin-based diagnosis. Based upon these findings, we concluded that obesity is significantly associated with iron deficiency, and we recommend early monitoring and treatment of iron deficiency in overweight and obese individuals. Future

  9. Glucose-6-phosphate dehydrogenase deficiency in Nigerian children.

    Directory of Open Access Journals (Sweden)

    Olatundun Williams

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common human enzymopathy and in Sub-Saharan Africa, is a significant cause of infection- and drug-induced hemolysis and neonatal jaundice. Our goals were to determine the prevalence of G6PD deficiency among Nigerian children of different ethnic backgrounds and to identify predictors of G6PD deficiency by analyzing vital signs and hematocrit and by asking screening questions about symptoms of hemolysis. We studied 1,122 children (561 males and 561 females aged 1 month to 15 years. The mean age was 7.4 ± 3.2 years. Children of Yoruba ethnicity made up the largest group (77.5% followed by those Igbo descent (10.6% and those of Igede (10.2% and Tiv (1.8% ethnicity. G6PD status was determined using the fluorescent spot method. We found that the overall prevalence of G6PD deficiency was 15.3% (24.1% in males, 6.6% in females. Yoruba children had a higher prevalence (16.9% than Igede (10.5%, Igbo (10.1% and Tiv (5.0% children. The odds of G6PD deficiency were 0.38 times as high in Igbo children compared to Yoruba children (p=0.0500. The odds for Igede and Tiv children were not significantly different from Yoruba children (p=0.7528 and 0.9789 respectively. Mean oxygen saturation, heart rate and hematocrit were not significantly different in G6PD deficient and G6PD sufficient children. The odds of being G6PD deficient were 2.1 times higher in children with scleral icterus than those without (p=0.0351. In conclusion, we determined the prevalence of G6PD deficiency in Nigerian sub-populations. The odds of G6PD deficiency were decreased in Igbo children compared to Yoruba children. There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection.

  10. Glucose-6-phosphate dehydrogenase deficiency in Nigerian children.

    Science.gov (United States)

    Williams, Olatundun; Gbadero, Daniel; Edowhorhu, Grace; Brearley, Ann; Slusher, Tina; Lund, Troy C

    2013-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy and in Sub-Saharan Africa, is a significant cause of infection- and drug-induced hemolysis and neonatal jaundice. Our goals were to determine the prevalence of G6PD deficiency among Nigerian children of different ethnic backgrounds and to identify predictors of G6PD deficiency by analyzing vital signs and hematocrit and by asking screening questions about symptoms of hemolysis. We studied 1,122 children (561 males and 561 females) aged 1 month to 15 years. The mean age was 7.4 ± 3.2 years. Children of Yoruba ethnicity made up the largest group (77.5%) followed by those Igbo descent (10.6%) and those of Igede (10.2%) and Tiv (1.8%) ethnicity. G6PD status was determined using the fluorescent spot method. We found that the overall prevalence of G6PD deficiency was 15.3% (24.1% in males, 6.6% in females). Yoruba children had a higher prevalence (16.9%) than Igede (10.5%), Igbo (10.1%) and Tiv (5.0%) children. The odds of G6PD deficiency were 0.38 times as high in Igbo children compared to Yoruba children (p=0.0500). The odds for Igede and Tiv children were not significantly different from Yoruba children (p=0.7528 and 0.9789 respectively). Mean oxygen saturation, heart rate and hematocrit were not significantly different in G6PD deficient and G6PD sufficient children. The odds of being G6PD deficient were 2.1 times higher in children with scleral icterus than those without (p=0.0351). In conclusion, we determined the prevalence of G6PD deficiency in Nigerian sub-populations. The odds of G6PD deficiency were decreased in Igbo children compared to Yoruba children. There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection. PMID:23874768

  11. 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.

  12. Taurine deficiency and MELAS are closely related syndromes.

    Science.gov (United States)

    Schaffer, Stephen W; Jong, Chian Ju; Warner, Danielle; Ito, Takashi; Azuma, Junichi

    2013-01-01

    MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is a mitochondrial disease caused by one or more mutations of tRNA(Leu(UUR)). These mutations reduce both the aminoacylation of tRNA(Leu(UUR)) and a posttranslational modification in the wobble position of tRNA(Leu(UUR)). Both changes result in reduced transcription of mitochondria-encoded proteins; however, reduced aminoacylation affects the decoding of both UUG and UUA while the wobble defect specifically diminishes UUG decoding. Because 12 out of the 13 mitochondria-encoded proteins are more dependent on UUA decoding than UUG decoding, the aminoacylation defect should have a more profound effect on protein synthesis than the wobble defect, which more specifically alters the expression of one mitochondria-encoded protein, ND6. Taurine serves as a substrate in the formation of 5-taurinomethyluridine-tRNA(Leu(UUR)); therefore, taurine deficiency should mimic 5-taurinomethyluridine-tRNA(Leu(UUR)) deficiency. Hence, the wobble hypothesis predicts that the symptoms of MELAS mimic those of taurine deficiency, provided that the dominant defect in MELAS is wobble modification deficiency. On the other hand, if the aminoacylation defect dominates, significant differences should exist between taurine deficiency and MELAS. The present review tests this hypothesis by comparing the symptoms of MELAS and taurine deficiency.

  13. The role of the endogenous opiates in zinc deficiency anorexia.

    Science.gov (United States)

    Essatara, M B; Morley, J E; Levine, A S; Elson, M K; Shafer, R B; McClain, C J

    1984-03-01

    Anorexia is a major symptom of zinc deficiency, but the mechanism(s) for this anorexia are poorly defined. Recent studies have suggested an integral role for endogenous opiate peptides in appetite regulation. Dynorphin, a leucine-enkephalin containing opiate peptide, is a potent inducer of spontaneous feeding. In this study we showed that zinc deficient animals were relatively resistant to dynorphin-induced feeding. Measurement of dynorphin levels using a highly sensitive radioimmunoassay showed that zinc deficient animals had lower levels of dynorphin in the hypothalamus than did ad lib fed animals, with weight restricted animals having intermediate values. [3H]-naloxone binding was significantly increased to isolated brain membranes from zinc deficient animals using 1 nM unlabeled naloxone when compared to ad lib fed controls with the weight restricted animals again having intermediate values. These data suggest that abnormalities in endogenous opiate regulation of appetite may well play a role in the anorexia of zinc deficiency. The effects of zinc deficiency on endogenous opiate action appear to include alterations in receptor affinity, a post-receptor defect and alterations in the synthesis and/or release of dynorphin. PMID:6146993

  14. Correlation between vivax malaria infection and iron deficiency in children

    Directory of Open Access Journals (Sweden)

    Desmansyah Desmansyah

    2016-07-01

    Full Text Available Background Iron deficiency is considered to be a major public health problem around the world due to its high prevalence as well as its effect on growth, development, and infection-resistance in children. In malaria-endemic areas, malaria infection is thought to contribute to the occurrence of iron deficiency, by means of hepcidin and hemolysis mechanisms. Objective To assess the prevalence of asymptomatic vivax malaria, compare hemoglobin levels and iron status parameters between vivax malaria-infected and uninfected children, assess the prevalence of iron deficiency, and evaluate a possible correlation between vivax malaria infection and iron deficiency. Methods This cross-sectional study was conducted from February to April 2013 at Sanana City of Sula Islands District, North Maluku. Six parameters were evaluated in 5-11-year-old children: malaria parasite infection, hemoglobin level, serum iron concentration, total iron-binding capacity (TIBC, serum transferrin saturation, and serum ferritin concentration. Results Among 296 children aged 5-11 years, 75 (25.3% were infected with Plasmodium vivax. In infected children, hemoglobin, serum iron, transferrin saturation, TIBC and serum ferritin were significantly lower than in non-infected children (P<0.01. Using a serum ferritin cut-off of <15 μg/dL, 142 (48.0% of the children were found to be iron deficient. There was a strong correlation between vivax malaria infection and iron deficiency (OR 3.573; 95%CI 2.03-6.29. ConclusionThe prevalence of asymptomatic vivax malaria infection was 25.3%. The hemoglobin level and iron status parameters in vivax malaria-infected subjects were significantly lower than in uninfected children. The prevalence of iron deficiency was 48.0% for all study subjects. Malaria vivax infection was correlated with iron deficiency in 5-11-year-old children at Sanana City.

  15. Gender affects skin wound healing in plasminogen deficient mice.

    Directory of Open Access Journals (Sweden)

    Birgitte Rønø

    Full Text Available The fibrinolytic activity of plasmin plays a fundamental role in resolution of blood clots and clearance of extravascular deposited fibrin in damaged tissues. These vital functions of plasmin are exploited by malignant cells to accelerate tumor growth and facilitate metastases. Mice lacking functional plasmin thus display decreased tumor growth in a variety of cancer models. Interestingly, this role of plasmin has, in regard to skin cancer, been shown to be restricted to male mice. It remains to be clarified whether gender also affects other phenotypic characteristics of plasmin deficiency or if this gender effect is restricted to skin cancer. To investigate this, we tested the effect of gender on plasmin dependent immune cell migration, accumulation of hepatic fibrin depositions, skin composition, and skin wound healing. Gender did not affect immune cell migration or hepatic fibrin accumulation in neither wildtype nor plasmin deficient mice, and the existing differences in skin composition between males and females were unaffected by plasmin deficiency. In contrast, gender had a marked effect on the ability of plasmin deficient mice to heal skin wounds, which was seen as an accelerated wound closure in female versus male plasmin deficient mice. Further studies showed that this gender effect could not be reversed by ovariectomy, suggesting that female sex-hormones did not mediate the accelerated skin wound healing in plasmin deficient female mice. Histological examination of healed wounds revealed larger amounts of fibrotic scars in the provisional matrix of plasmin deficient male mice compared to female mice. These fibrotic scars correlated to an obstruction of cell infiltration of the granulation tissue, which is a prerequisite for wound healing. In conclusion, the presented data show that the gender dependent effect of plasmin deficiency is tissue specific and may be secondary to already established differences between genders, such as skin

  16. 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

  17. [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.

  18. The Comparison of Serum Vitamin D Level in Patients with Iron Deficiency Anemia and Minor Thalassemia

    OpenAIRE

    Royani, S. (MSc); Alijanpor, S. (BSc); Shirbaghaei, Z. (BSc); Khorasaninejad, R. (BSc); Roshandel, GH. (MSc); Ayatollahi, AA. (MD); Joshaghani, HR. (PhD)

    2013-01-01

    Background and Objective: Of the most common hypochromic microcytic anemia are iron deficiency anemia and minor thalassemia, which are common in Iran and their differential diagnosis is extremely important. The level of 25-hydroxy vitamin D is the indication of vitamin D blood status. The aim of this study was to compare serum levels of vitamin D in people with minor thalassemia and iron deficiency anemia with healthy subjects in order to investigate the relationship between vitamin D deficie...

  19. Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.

    Directory of Open Access Journals (Sweden)

    Erin E Cummings

    Full Text Available α1-antitrypsin deficiency (ATD predisposes patients to both loss-of-function (emphysema and gain-of-function (liver cirrhosis phenotypes depending on the type of mutation. Although the Z mutation (ATZ is the most prevalent cause of ATD, >120 mutant alleles have been identified. In general, these mutations are classified as deficient (<20% normal plasma levels or null (<1% normal levels alleles. The deficient alleles, like ATZ, misfold in the ER where they accumulate as toxic monomers, oligomers and aggregates. Thus, deficient alleles may predispose to both gain- and loss-of-function phenotypes. Null variants, if translated, typically yield truncated proteins that are efficiently degraded after being transiently retained in the ER. Clinically, null alleles are only associated with the loss-of-function phenotype. We recently developed a C. elegans model of ATD in order to further elucidate the mechanisms of proteotoxicity (gain-of-function phenotype induced by the aggregation-prone deficient allele, ATZ. The goal of this study was to use this C. elegans model to determine whether different types of deficient and null alleles, which differentially affect polymerization and secretion rates, correlated to any extent with proteotoxicity. Animals expressing the deficient alleles, Mmalton, Siiyama and S (ATS, showed overall toxicity comparable to that observed in patients. Interestingly, Siiyama expressing animals had smaller intracellular inclusions than ATZ yet appeared to have a greater negative effect on animal fitness. Surprisingly, the null mutants, although efficiently degraded, showed a relatively mild gain-of-function proteotoxic phenotype. However, since null variant proteins are degraded differently and do not appear to accumulate, their mechanism of proteotoxicity is likely to be different to that of polymerizing, deficient mutants. Taken together, these studies showed that C. elegans is an inexpensive tool to assess the proteotoxicity of

  20. Comparative analysis of oral ferrous succinate and intravenous iron sucrose treatment of iron deficiency anemia%口服琥珀酸亚铁和静脉用蔗糖铁治疗缺铁性贫血的对照分析

    Institute of Scientific and Technical Information of China (English)

    张琼

    2015-01-01

    目的:探讨缺铁性贫血采用琥珀酸亚铁口服与蔗糖铁静脉应用效果进行比较。方法本次选取缺铁性贫血患者60例作研究对象,均为我院2010年4月~2014年4月收治,随机分为两组,琥珀酸亚铁口服组(n=30)与蔗糖铁静脉组(n=30)效果进行比较。结果静脉组总有效率为96.7%,高于口服组86.7%,但差异无统计学意义(P>0.05);静脉组治愈率为90.0%,显著高于口服组63.3%,差异有统计学意义( P<0.05)。两组治疗前Hb、SF值比较差异无统计学意义(P>0.05),干预后均有改善,但静脉组改善幅度明显优于口服组(P<0.05)。静脉组仅轻微头晕1例,占3.3%;口服组便秘1例,头晕2例,恶心2例,食欲不振1例,呕吐1例,总不良事件率为23.3%,差异有统计学意义(P<0.05)。结论缺铁性贫血的患者,采用蔗糖铁静脉给药,可提高治愈率,改善临床症状,降低不良反应,具有非常积极的临床意义。%Objective To study the comparative clinical effect of oral ferrous succinate and intravenous iron sucrose in the treatment of iron deficiency anemia. Methods60 patients with iron deficiency anemia who were selected in our hospital from April 2010 to April 2014 were randomly divided into oral group treated with ferrous succinate and intravenous group treated with iron sucrose,with 30 cases in each group.Results The total effective rate was 96.7% in oral group and 86.7% in intravenous group without significant difference(P>0.05).The cure rate was significantly higher in oral group(90%)than which in intravenous group(63.3%),there were significant differences between each other(P0.05),had improved by intervention and was better in intravenous group than which in oral group(P<0.05).The total rate of adverse events was 3.3% in intravenous group with 1 case of slight dizziness,and which was 23.3% in oral group with 1 case of constipation,2 cases of dizziness

  1. Vitamin A deficiency modulates iron metabolism via ineffective erythropoiesis.

    Science.gov (United States)

    da Cunha, Marcela S B; Siqueira, Egle M A; Trindade, Luciano S; Arruda, Sandra F

    2014-10-01

    Vitamin A modulates inflammatory status, iron metabolism and erythropoiesis. Given that these factors modulate the expression of the hormone hepcidin (Hamp), we investigated the effect of vitamin A deficiency on molecular biomarkers of iron metabolism, the inflammatory response and the erythropoietic system. Five groups of male Wistar rats were treated: control (AIN-93G), the vitamin A-deficient (VAD) diet, the iron-deficient (FeD) diet, the vitamin A- and iron-deficient (VAFeD) diet or the diet with 12 mg atRA/kg diet replacing all-trans-retinyl palmitate by all-trans retinoic acid (atRA). Vitamin A deficiency reduced serum iron and transferrin saturation levels, increased spleen iron concentrations, reduced hepatic Hamp and kidney erythropoietin messenger RNA (mRNA) levels and up-regulated hepatic and spleen heme oxygenase-1 gene expression while reducing the liver HO-1 specific activity compared with the control. The FeD and VAFeD rats exhibited lower levels of serum iron and transferrin saturation, lower iron concentrations in tissues and lower hepatic Hamp mRNA levels compared with the control. The treatment with atRA resulted in lower serum iron and transferrin concentrations, an increased iron concentration in the liver, a decreased iron concentration in the spleen and in the gut, and decreased hepatic Hamp mRNA levels. In summary, these findings suggest that vitamin A deficiency leads to ineffective erythropoiesis by the down-regulation of renal erythropoietin expression in the kidney, resulting in erythrocyte malformation and the consequent accumulation of the heme group in the spleen. Vitamin A deficiency indirectly modulates systemic iron homeostasis by enhancing erythrophagocytosis of undifferentiated erythrocytes.

  2. Effect of magnesium deficiency on bone metabolism in female rats

    Directory of Open Access Journals (Sweden)

    E. M. Al-Khshab

    2009-01-01

    Full Text Available The present study undertakes the deficiency effect of dietary magnesium on bone metabolism and some biochemical parameters in female rats. Experimental diets included control diet (65 mg magnesium / 100 g and the deficient magnesium (3 mg/100g diet. Deionized water was supplied for drinking. Forty six albino female rats were divided into two main groups, the first group included 18 adult female rats, divided into 9 control and 9 animals given magnesium deficient diet. The second group included young female rats divided into two groups, the first group was treated from dams،and included 14 young female rats. They were divided into 7 control and 7 magnesium deficient group. The other one was treated at 28 days old and included 14 young female rats, which were divided into 7 control and 7 magnesium deficient group. Blood samples were obtained at specific times from each group for biochemical parameters: magnesium, alkaline phosphatase activity (ALP, albumin, calcium and phosphorus were estimated. At the end of the experimental period, rats were anesthetized and killed. The right femurs were obtained for mineral analysis in bone ash (Ca, Mg. The results of adult female (Mg deficient group showed a significant decrease in magnesium, ALP activity, albumin, calcium (within normal range. Both young female rat groups showed a significant decrease in magnesium, ALP and albumin compared with control group. The mineral analysis in bone ash showed no significant differences in calcium level where a significant decrease in magnesium level was observed compared with the control groups. It was concluded from this study, that magnesium deficiency could be used for detection of osteoporosis and defect of bone formation in adult and young female rats, respectively.

  3. 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...

  4. 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.

  5. 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

  6. 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

  7. Diagnosis of vitamin B12 deficiency.

    OpenAIRE

    HU, Rehman

    1984-01-01

    Vitamin B12 (cobalamin) deficiency occurs primarily as a result  of insufficient dietary intake or poor absorp-tion. There is widespread global prevalence of vitamin B12 deficiency, resulting in considerable morbidity.

  8. Genetics Home Reference: tyrosine hydroxylase deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions TH deficiency tyrosine hydroxylase deficiency ...

  9. Reticulocyte hemoglobin content in the diagnosis of iron deficiency in Chinese pre-menopausal women

    Institute of Scientific and Technical Information of China (English)

    LUO Dan; CHEN Yu; WU Wei; ZHANG Feng; XU Jia; CUI Wei; LI Shu-lan; LI Rong-sheng

    2007-01-01

    @@ Pre-menopausal women are at risk for iron deficiency due to menstrual blood losses. The prevalence rates (PR) of iron depletion, iron deficiency anemia (IDA), and iron deficiency were 34.4%, 15.1% and 49.5% in pre-menopausal non-pregnant women respectively in China.1 Traditionally, the diagnosis of iron deficiency relies on the hematological markers (hemoglobin (HGB),mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), red cell distribution width (RDW))and biochemical markers (serum ferritin (SF), serum iron (SI), transferrin saturation (TS), total iron-binding capacity (TIBC)). Recently, the reticulocyte hemoglobin content (CHr) is considered to be used as a marker of iron deficiency.2 The aim of this study was to compare the diagnostic efficiency of CHr with the old markers in diagnosis of iron deficiency in Chinese pre-menopausal women.

  10. A question mark on iron deficiency in 185 million people of Pakistan: its outcomes and prevention.

    Science.gov (United States)

    Ahmed, Anwaar; Ahmad, Asif; Khalid, Nauman; David, Angel; Sandhu, Mansoor Abdullah; Randhawa, Muhammad Atif; Suleria, Hafiz Ansar Rasul

    2014-01-01

    Micronutrient deficiency especially the iron deficiency is the bane of our lives, affecting all strata of society. Unfortunately, the women during pregnancy, adolescence, and children are under this curse particularly in developing countries like Pakistan. It is one of the biggest reasons of complications during pregnancy and malnourished children under five years of age. Maternal death, still-births, and underweight births are most common consequences of iron deficiency and these outbreaks as iron-deficiency anemia in Pakistan. Disastrous nature of iron deficiency requires an urgent call to eradicate it. Hence, the solution should not be frail comparing with the huge economic loss and other incompatibilities. Flour fortification, supplementation, dietary diversification, and especially maternal education are possible solutions for combating this micronutrient deficiency. PMID:24580562

  11. 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...

  12. Stump sensibility in children with upper limb reduction deficiency

    NARCIS (Netherlands)

    Reinkingh, Marianne; Reinders-Messelink, Heleen A.; Dijkstra, Pieter U.; Maathuis, Karel G. B.; van der Sluis, Corry K.

    2014-01-01

    Objectives: To compare stump sensibility in children with upper limb reduction deficiency with sensibility of the unaffected arm and hand. In addition, to evaluate the associations between stump sensibility, stump length and activity level. Design: Cross-sectional study. Subjects: Children and young

  13. Iron deficiency and iron excess damage mitochondria and mitochondrial DNA in rats.

    Science.gov (United States)

    Walter, Patrick B; Knutson, Mitchell D; Paler-Martinez, Andres; Lee, Sonia; Xu, Yu; Viteri, Fernando E; Ames, Bruce N

    2002-02-19

    Approximately two billion people, mainly women and children, are iron deficient. Two studies examined the effects of iron deficiency and supplementation on rats. In study 1, mitochondrial functional parameters and mitochondrial DNA (mtDNA) damage were assayed in iron-deficient (iron-normal (800 microg/day) rats and in both groups after daily high-iron supplementation (8,000 microg/day) for 34 days. This dose is equivalent to the daily dose commonly given to iron-deficient humans. Iron-deficient rats had lower liver mitochondrial respiratory control ratios and increased levels of oxidants in polymorphonuclear-leukocytes, as assayed by dichlorofluorescein (P iron-supplemented rats regardless of the previous iron status (P iron-deficient rats and rats receiving daily high-iron supplementation, compared with iron-normal rats (P iron-deficient rats given high doses of iron (8,000 microg) either daily or every third day and found that rats given iron supplements every third day had less mtDNA damage on the second and third day after the last dose compared to daily high iron doses. Both inadequate and excessive iron (10 x nutritional need) cause significant mitochondrial malfunction. Although excess iron has been known to cause oxidative damage, the observation of oxidant-induced damage to mitochondria from iron deficiency has been unrecognized previously. Untreated iron deficiency, as well as excessive-iron supplementation, are deleterious and emphasize the importance of maintaining optimal iron intake.

  14. Vitamin D deficiency in Crohn's disease: prevalence, risk factors and supplement use in an outpatient setting.

    LENUS (Irish Health Repository)

    Suibhne, Treasa Nic

    2012-03-01

    Vitamin D deficiency impacts on bone health and has potential new roles in inflammation. We aimed to determine the prevalence of and risk factors for vitamin D deficiency and to explore vitamin D supplement usage in patients with Crohn\\'s disease (CD) in an outpatient setting, compared with controls.

  15. High prevalence of vitamin D deficiency in newborn infants of high-risk mothers

    NARCIS (Netherlands)

    Dijkstra, S. H.; van Beek, A.; Janssen, J. W.; de Vleeschouwer, L. H. M.; Huysman, W. A.; van den Akker, E. L. T.

    2007-01-01

    Objective: To determine the prevalence of vitamin D deficiency in newborn infants of mothers at risk of vitamin D deficiency because of dark skin or the wearing of concealing clothes (such as a veil) compared with a group presumed not to be at risk. A second aim was to correlate these newborn infant

  16. ADAPTIVE DEVICES IN YOUNG PEOPLE WITH UPPER LIMB REDUCTION DEFICIENCIES : USE AND SATISFACTION

    NARCIS (Netherlands)

    Golea-Vasluian, Ecaterina; van Wijk, Iris; Dijkstra, Pieter U.; Reinders - Messelink, Heelen; van der Sluis, Corry K.

    2015-01-01

    Objective: To evaluate use of, satisfaction with, and social adjustment with adaptive devices compared with prostheses in young people with upper limb reduction deficiencies. Methods: Cross-sectional study of 218 young people with upper limb reduction deficiencies (age range 2-20 years) and their pa

  17. INTRAVENOUS IRON VERSUS ORAL IRON IN ANTENATAL WOMEN WITH IRON DEFICIENCY ANEMIA IN SUB - HIMALAYAN SETTINGS

    OpenAIRE

    Shraddha; Anup

    2015-01-01

    OBJECTIVE: Compare Intravenous Iron sucrose and Oral Ferrous sulphate in the treatment of iron deficiency anaemia during pregnancy. METHOD: 100 sub - himalayan antenatal women between 12 to 36 weeks gestation from Central Referral Hospital with Iron deficiency anemia; hemoglobin 6 – 9 gm/dl, MCV

  18. 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…

  19. Shell Model Description of Neutron-Deficient Sn Isotopes

    Institute of Scientific and Technical Information of China (English)

    Erdal Dikmen

    2009-01-01

    The shell model calculations in the sdgh major shell for the neutron-deficient 106,107,108,109Sn isotopes have been carried out by using CD-Bonn and Nijmegenl two-body effective nucleon-nucleon interactions. The single-shell states and the corresponding matrix elements needed for describing Sn isotopes are reconstructed to calculate the coefficient of fractional parantage by reducing the calculation requirements. This reconstruction allows us to do the shell model calculations of the neutron deficient Sn isotopes in very reasonable time. The results are compared to the recent high-resolution experimental data and found to be in good agreement with experiments.

  20. Gender affects skin wound healing in plasminogen deficient mice

    DEFF Research Database (Denmark)

    Rønø, Birgitte; Engelholm, Lars Henning; Lund, Leif Røge;

    2013-01-01

    functional plasmin thus display decreased tumor growth in a variety of cancer models. Interestingly, this role of plasmin has, in regard to skin cancer, been shown to be restricted to male mice. It remains to be clarified whether gender also affects other phenotypic characteristics of plasmin deficiency...... revealed larger amounts of fibrotic scars in the provisional matrix of plasmin deficient male mice compared to female mice. These fibrotic scars correlated to an obstruction of cell infiltration of the granulation tissue, which is a prerequisite for wound healing. In conclusion, the presented data show...

  1. 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...... sera. These data were combined with standardized serum 25(OH)D data from 4 previously standardized studies (for a total n = 55,844). Prevalence estimates of vitamin D deficiency [using various serum 25(OH)D thresholds] were generated on the basis of standardized 25(OH)D data. RESULTS: An overall pooled...

  2. DNA repair deficiency in neurodegeneration

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  3. Vitamin D deficiency in Fibromyalgia

    International Nuclear Information System (INIS)

    Objective: To check the Vitamin D levels in patients diagnosed as fibromyagia in our population. Methods: Study was done at Medical OPD of Civil Hospital Karachi, from January to March 2009. Female patients diagnosed as Fibromyalgia according to American College of Rheumatology (ACR) criteria and exclusion of systemic illness on examination, and normal reports of blood CP, ESR, serum calcium, phosphate and Alkaline Phosphatase, were asked to get Vitamin D levels in their serum. Vitamin D deficiency is defined as 30 ng/ml. Result: Forty female patients were included in the study. The mean age was 37.65 +- 11.5 years. Mean Vitamin D level was 17.41 +- 5.497 ng/ml. Thirty two (80%) of patients had Vitamin D deficiency, mean levels of 15.855 +- 4.918 ng/ml and 8(20%) had Vitamin D insufficiency, mean levels of 23.64 +- 2.39 ng/ml. Patients with vitamin D deficiency and age less than 45 years were 22 (68.75%), had mean vitamin D level 16.87 +- 4.48 ng/ml whereas in age ranging from 46-75 years were 10 (31.25%) had mean vitamin D level 16.09 +- 6.45 ng/ml. Conclusion: Vitamin D deficiency is frequently seen in patients diagnosed as fibromyalgia and nonspecific musculoskeletal pain in our population. Although the sample size of the study is small, but the figures are so alarming that it is an eye opener towards the need of a population based study, including normal population as well as those presenting with musculoskeletal pain. (author)

  4. [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.

  5. Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells

    International Nuclear Information System (INIS)

    Highlights: ► Yeast frataxin-deficiency leads to increased proportion of fragmented mitochondria. ► Oxidative stress induces complete mitochondrial fragmentation in Δyfh1 cells. ► Oxidative stress increases mitochondrial fragmentation in patient fibroblasts. ► Inhibition of mitochondrial fission in Δyfh1 induces oxidative stress resistance. -- Abstract: Friedreich ataxia (FA) is the most common recessive neurodegenerative disease. It is caused by deficiency in mitochondrial frataxin, which participates in iron–sulfur cluster assembly. Yeast cells lacking frataxin (Δyfh1 mutant) showed an increased proportion of fragmented mitochondria compared to wild-type. In addition, oxidative stress induced complete fragmentation of mitochondria in Δyfh1 cells. Genetically controlled inhibition of mitochondrial fission in these cells led to increased resistance to oxidative stress. Here we present evidence that in yeast frataxin-deficiency interferes with mitochondrial dynamics, which might therefore be relevant for the pathophysiology of FA.

  6. RNA-sequencing of WFS1-deficient pancreatic islets.

    Science.gov (United States)

    Ivask, Marilin; Hugill, Alison; Kõks, Sulev

    2016-04-01

    Wolfram syndrome, an autosomal recessive disorder characterized by juvenile-onset diabetes mellitus and optic atrophy, is caused by mutations in theWFS1gene.WFS1encodes an endoplasmic reticulum resident transmembrane protein. TheWfs1-null mice exhibit progressive insulin deficiency and diabetes. The aim of this study was to describe the insulin secretion and transcriptome of pancreatic islets inWFS1-deficient mice.WFS1-deficient (Wfs1KO) mice had considerably less pancreatic islets than heterozygous (Wfs1HZ) or wild-type (WT) mice. Wfs1KOpancreatic islets secreted less insulin after incubation in 2 and 10 mmol/L glucose and with tolbutamide solution compared toWTand Wfs1HZislets, but not after stimulation with 20 mmol/L glucose. Differences in proinsulin amount were not statistically significant although there was a trend that Wfs1KOhad an increased level of proinsulin. After incubation in 2 mmol/L glucose solution the proinsulin/insulin ratio in Wfs1KOwas significantly higher than that ofWTand Wfs1HZRNA-seq from pancreatic islets found melastatin-related transient receptor potential subfamily member 5 protein gene (Trpm5) to be downregulated inWFS1-deficient mice. Functional annotation ofRNAsequencing results showed thatWFS1 deficiency influenced significantly the pathways related to tissue morphology, endocrine system development and function, molecular transport network. PMID:27053292

  7. A rare case of vitamin B12 deficiency with ascites.

    Science.gov (United States)

    Rajsekhar, Putta; Reddy, Mugannagari Maheshwar; Vaddera, Sameeraja; Rajini, G; Tikeli, Vinil

    2014-07-01

    Vitamin B12 deficiency is widespread than assumed in population. At risk are older people, pregnant women, vegans, patients with renal and intestinal diseases. Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. In the population, the prevalence of vitamin B12 deficiency in younger people is 5% to 7% which is less compared to elderly people. In developing countries, deficiency is much more common, starting in early life and persisting across the life span. Here, we present a 16-year-old female patient presenting with ascites since 2 months who was subsequently investigated and diagnosed to have nutritional megaloblastic anaemia secondary to vitamin B12 deficiency after exclusion of other infective, neoplastic, autoimmune and inflammatory diseases. Inspite, patient was treated with antitubercular drugs but she did not respond. After supplementation of Vitamin B12, ascites responded well. Inadequate intake due to low consumption of animal source foods is the main cause of low serum vitamin B12 in younger adults and likely the main cause in poor population worldwide.

  8. 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 ...

  9. New Data on Vaccine Antigen Deficient Bordetella pertussis Isolates

    Directory of Open Access Journals (Sweden)

    Valérie Bouchez

    2015-09-01

    Full Text Available Evolution of Bordetella pertussis is driven by natural and vaccine pressures. Isolates circulating in regions with high vaccination coverage present multiple allelic and antigenic variations as compared to isolates collected before introduction of vaccination. Furthermore, during the last epidemics reported in regions using pertussis acellular vaccines, isolates deficient for vaccine antigens, such as pertactin (PRN, were reported to reach high proportions of circulating isolates. More sporadic filamentous hemagglutinin (FHA or pertussis toxin (PT deficient isolates were also collected. The whole genome of some recent French isolates, deficient or non-deficient in vaccine antigens, were analyzed. Transcription profiles of the expression of the main virulence factors were also compared. The invasive phenotype in an in vitro human tracheal epithelial (HTE cell model of infection was evaluated. Our genomic analysis focused on SNPs related to virulence genes known to be more likely to present allelic polymorphism. Transcriptomic data indicated that isolates circulating since the introduction of pertussis vaccines present lower transcription levels of the main virulence genes than the isolates of the pre-vaccine era. Furthermore, isolates not producing FHA present significantly higher expression levels of the entire set of genes tested. Finally, we observed that recent isolates are more invasive in HTE cells when compared to the reference strain, but no multiplication occurs within cells.

  10. 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.

  11. Low Prevalence of Iron and Vitamin A Deficiency among Cambodian Women of Reproductive Age.

    Science.gov (United States)

    Wieringa, Frank T; Sophonneary, Prak; Whitney, Sophie; Mao, Bunsoth; Berger, Jacques; Conkle, Joel; Dijkhuizen, Marjoleine A; Laillou, Arnaud

    2016-04-01

    Nearly half of women of reproductive age (WRA) in Cambodia are anemic. To guide interventions, national data on nutritional causes of anemia, including iron deficiency and vitamin A deficiency, are needed. In 2012, a national household survey in WRA on antibodies to routine vaccine-preventable disease immunity was performed. We used serum samples from this survey to estimate the prevalence of iron and vitamin A deficiency in 2112 Cambodian WRA, aged 15 to 39 years. Iron deficiency was classified as low or marginal iron stores (ferritin concentrations corrected for inflammation iron deficient erythropoiesis (soluble transferrin receptor concentrations >8.3 mg/L; sTfR), or low total body iron (TBI) derived from Fer and sTfR concentrations (status was classified using retinol binding protein (RBP) concentrations corrected for inflammation as deficient (iron stores, low TBI and iron deficient erythropoiesis was 8.1%, 5.0% and 9.3% respectively. Almost 40% of the women had marginal iron stores. Iron status was better in women living in urban areas compared to rural areas (p deficiency was iron and vitamin A deficiency to the high prevalence of anemia in Cambodian WRA may be limited. The etiology of anemia in Cambodia needs to be elucidated further to guide current policies on anemia.

  12. Comparative study of relevant factors of dampness-heat stagnation type and yin deficiency with dryness heat type primary Sjogren syndrome%湿阻热郁型与阴虚燥热型原发性干燥综合征相关因素对比研究

    Institute of Scientific and Technical Information of China (English)

    胡建东; 袁旭; 薛鸾

    2012-01-01

    Objective To elucidate the difference between dampness - heat stagnation type and yin deficiency with dryness heat type primary Sjogren syndrome in such factors as life habits,salivary glands secretion,organ involvement, β2 ~ MG. Methods A questionaire to investigate the habit for drinking and smoking,eating heavy taste food was conducted in thirty - five dampness - heat stagnation type Sjogren syndrome ( DHS - PSS) and eighty - two yin deficiency with dryness heat type Sjogren syndrome ( YDDH - PSS). The number of dental caries, oral sugar clearance time,14C breath test for detection of Hp infection rate,chest CT detection of interstitial lung disease incidence; serum uric acid,creatinine,and blood, urine, saliva, β2 ~ microglobulin ( β2 - MG) detection of all the patients was elevated. Results There was no significant difference in age,duration of disease,gender ratio,the habit for smoking and drinking between the two types of primary Sjogren syndrome. Compared with the YDDH - PSS group, the DHS - SS group had more serious bad food habit in eating greasy,sweet and heavy - taste food,higher BMI,higher frequency interstitial pneumonia. Time of oral Sugar clearance in DHS - PSS group was significantly longer than that in YDDH - PSS group. The serum and salivary β2 ~ MG were significantly higher in DHS - PSS group than that in YDDH - PSS group. Conclusion There are differences between dampness - heat stagnation type and yin deficiency with dryness heat type primary Sjogren syndrome in the duration of disease,BMI,diet,the number of dental caries,in- volved organs and β2 - MG in, etc. The analysis of these projects contribute to the understanding of the PSS traditional Chinese medicine syndrome differentiation clinical features, and provide the evidence base for the objective of the tradi- tional Chinese medicine syndrome differentiation.%目的 对比原发性干燥综合征(PSS)湿阻热郁型与阴虚燥热型在生活习惯、唾液腺分泌及脏器

  13. 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...

  14. XPC deficiency is related to APE1 and OGG1 expression and function.

    Science.gov (United States)

    de Melo, Julliane Tamara Araújo; de Souza Timoteo, Ana Rafaela; Lajus, Tirzah Braz Petta; Brandão, Juliana Alves; de Souza-Pinto, Nadja Cristhina; Menck, Carlos Frederico Martins; Campalans, Anna; Radicella, J Pablo; Vessoni, Alexandre Teixeira; Muotri, Alysson Renato; Agnez-Lima, Lucymara Fassarella

    2016-01-01

    Oxidative DNA damage is considered to be a major cause of neurodegeneration and internal tumors observed in syndromes that result from nucleotide excision repair (NER) deficiencies, such as Xeroderma Pigmentosum (XP) and Cockayne Syndrome (CS). Recent evidence has shown that NER aids in removing oxidized DNA damage and may interact with base excision repair (BER) enzymes. Here, we investigated APE1 and OGG1 expression, localization and activity after oxidative stress in XPC-deficient cells. The endogenous APE1 and OGG1 mRNA levels were lower in XPC-deficient fibroblasts. However, XPC-deficient cells did not show hypersensitivity to oxidative stress compared with NER-proficient cells. To confirm the impact of an XPC deficiency in regulating APE1 and OGG1 expression and activity, we established an XPC-complemented cell line. Although the XPC complementation was only partial and transient, the transfected cells exhibited greater OGG1 expression and activity compared with XPC-deficient cells. However, the APE1 expression and activity did not significantly change. Furthermore, we observed a physical interaction between the XPC and APE1 proteins. Together, the results indicate that the responses of XPC-deficient cells under oxidative stress may not only be associated with NER deficiency per se but may also include new XPC functions in regulating BER proteins. PMID:26811994

  15. Zinc deficiency is common in several psychiatric disorders.

    Directory of Open Access Journals (Sweden)

    Ole Grønli

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

  16. Milk versus medicine for the treatment of iron deficiency anaemia in hospitalised infants

    OpenAIRE

    Wall, C.; Grant, C.; Taua, N; C. Wilson; Thompson, J.

    2005-01-01

    Aims: To compare iron fortified follow-on milk (iron follow-on), iron fortified partially modified cows' milk (iron milk), and iron medicine for the treatment of iron deficiency anaemia (IDA) in hospitalised infants.

  17. Mouse embryonic fibroblasts derived from Odin deficient mice display a hyperproliiferative phenotype

    DEFF Research Database (Denmark)

    Kristiansen, Troels Zaccharias Glahn; Nielsen, Mogens Møller; Blagoev, Blagoy;

    2004-01-01

    -induced mitogenesis in cell lines. To further investigate the role of Odin in growth factor receptor signaling and to elucidate its biological function in vivo, we have generated mice deficient in Odin by gene targeting. Odin-deficient mice do not display any obvious phenotype, and histological examination...... of the kidney, lung and liver does not show any major abnormalities as compared to wild-type controls. However, mouse embryonic fibroblasts (MEFs) generated from Odin-deficient mice exhibit a hyperproliferative phenotype compared to wild-type-derived MEFs, consistent with its role as a negative regulator...

  18. 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.

  19. Multispectral Analysis of Color Vision Deficiency Tests

    OpenAIRE

    Sergejs FOMINS; Ozolinsh, Maris

    2011-01-01

    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...

  20. Prevalence of Color Vision Deficiency in Qazvin

    OpenAIRE

    Mohammad khalaj; Ameneh Barikani; Mozhgan Mohammadi

    2014-01-01

    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 χP...

  1. Vitamin B12 deficiency and depression

    OpenAIRE

    Milanlıoğlu, Aysel

    2011-01-01

    Vitamin B12 deficiency may cause psychiatric manifestations preceding the hematological and neurological symptoms. Despite a variety of symptoms, data on the role of vitamin B12 deficiency in depression are sparse. We report a case with B12 deficiency that is diagnosed with psychotic depression and treated successively with vitamin B12 replacement instead of using conventional therapy. Future investigations should focus on the role of vitamin B12 status in depression and other neurops...

  2. Atypical B12 Deficiency with Nonresolving Paraesthesia

    OpenAIRE

    Haider, S.; Ahmad, N; Anaissie, E J; Abdel Karim, N.

    2013-01-01

    Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. We report a case of elderly female who presented with neuropathy and vitamin B12 deficiency where the final work-up revealed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS). This case suggests that, although POEMS syndrome is a rare entity, it can present with vitamin-B12 deficiency and thus specific work up for early diagnosis of P...

  3. Vitamin D Deficiency in Early Pregnancy

    OpenAIRE

    Flood-Nichols, Shannon K.; Tinnemore, Deborah; Huang, Raywin R.; Napolitano, Peter G.; Ippolito, Danielle L.

    2015-01-01

    Objective 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. Study Design This is a retrospective cohort study. Plasma was collected in the first trimester from 310 nulliparous women with singlet...

  4. Vitamin D Deficiency in Children and Adolescents

    OpenAIRE

    Andıran, Nesibe; Çelik, Nurullah; AKÇA, Halise; Doğan, Güzide

    2012-01-01

    Objective Vitamin D deficiency is an important health problem in both developed and developing countries. Recent reports on the extraskeletal effects of vitamin D have led to increased interest in prevalence studies on states of deficiency/insufficiency of vitamin D. The aim of this study was to determine the frequency of vitamin D deficiency and insufficiency in children and adolescents residing in Ankara, Turkey and to investigate the factors associated with low vitamin D status. Methods: A...

  5. 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...

  6. Genetics Home Reference: common variable immune deficiency

    Science.gov (United States)

    ... 2 links) National Institute of Allergy and Infectious Diseases: Immune System National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (8 links) Boston Children's ...

  7. Observation on Therapeutic Effect of the Depression of Heart-spleen Deficiency with Wuling Capsule

    International Nuclear Information System (INIS)

    To evaluate the effect on the treatment of depression belong to the type of heart-spleen deficiency with Wuling capsule, 37 patients were assigned into two groups: the deficiency of both the heart and spleen group (I) and the non deficiency of both the heart and spleen group (II). The efficacy of two groups was surveyed and compared after taken Wuling capsule 2 and 4 weeks,respectively. After treatment, there was a difference (P0.05). The satisfactory effects were showed on various kinds of depressions using wuling capsules,while deficiency of both the heart and spleen group effects were better than that of the non deficiency of both the heart and spleen group. (authors)

  8. Effects of early vitamin D deficiency rickets on bone and dental health, growth and immunity.

    Science.gov (United States)

    Zerofsky, Melissa; Ryder, Mark; Bhatia, Suruchi; Stephensen, Charles B; King, Janet; Fung, Ellen B

    2016-10-01

    Vitamin D deficiency is associated with adverse health outcomes, including impaired bone growth, gingival inflammation and increased risk for autoimmune disease, but the relationship between vitamin D deficiency rickets in childhood and long-term health has not been studied. In this study, we assessed the effect of early vitamin D deficiency on growth, bone density, dental health and immune function in later childhood to determine if children previously diagnosed with rickets were at greater risk of adverse health outcomes compared with healthy children. We measured serum 25-hydroxyvitamin D, calcium, parathyroid hormone, bone mineral density, anthropometric measures, dietary habits, dental health, general health history, and markers of inflammation in 14 previously diagnosed rickets case children at Children's Hospital Oakland Research Center. We compared the findings in the rickets cases with 11 healthy children selected from the population of CHO staff families. Fourteen mothers of the rickets cases, five siblings of the rickets cases, and seven mothers of healthy children also participated. Children diagnosed with vitamin D deficiency rickets had a greater risk of fracture, greater prevalence of asthma, and more dental enamel defects compared with healthy children. Given the widespread actions of vitamin D, it is likely that early-life vitamin D deficiency may increase the risk of disease later in childhood. Further assessment of the long-term health effects of early deficiency is necessary to make appropriate dietary recommendations for infants at risk of deficiency.

  9. Longer telomere length in COPD patients with α1-antitrypsin deficiency independent of lung function.

    Directory of Open Access Journals (Sweden)

    Aabida Saferali

    Full Text Available Oxidative stress is involved in the pathogenesis of airway obstruction in α1-antitrypsin deficient patients. This may result in a shortening of telomere length, resulting in cellular senescence. To test whether telomere length differs in α1-antitrypsin deficient patients compared with controls, we measured telomere length in DNA from peripheral blood cells of 217 α1-antitrypsin deficient patients and 217 control COPD patients. We also tested for differences in telomere length between DNA from blood and DNA from lung tissue in a subset of 51 controls. We found that telomere length in the blood was significantly longer in α1-antitrypsin deficient COPD patients compared with control COPD patients (p = 1×10(-29. Telomere length was not related to lung function in α1-antitrypsin deficient patients (p = 0.3122 or in COPD controls (p = 0.1430. Although mean telomere length was significantly shorter in the blood when compared with the lungs (p = 0.0078, telomere length was correlated between the two tissue types (p = 0.0122. Our results indicate that telomere length is better preserved in α1-antitrypsin deficient COPD patients than in non-deficient patients. In addition, measurement of telomere length in the blood may be a suitable surrogate for measurement in the lung.

  10. Longer telomere length in COPD patients with α1-antitrypsin deficiency independent of lung function.

    Science.gov (United States)

    Saferali, Aabida; Lee, Jee; Sin, Don D; Rouhani, Farshid N; Brantly, Mark L; Sandford, Andrew J

    2014-01-01

    Oxidative stress is involved in the pathogenesis of airway obstruction in α1-antitrypsin deficient patients. This may result in a shortening of telomere length, resulting in cellular senescence. To test whether telomere length differs in α1-antitrypsin deficient patients compared with controls, we measured telomere length in DNA from peripheral blood cells of 217 α1-antitrypsin deficient patients and 217 control COPD patients. We also tested for differences in telomere length between DNA from blood and DNA from lung tissue in a subset of 51 controls. We found that telomere length in the blood was significantly longer in α1-antitrypsin deficient COPD patients compared with control COPD patients (p = 1×10(-29)). Telomere length was not related to lung function in α1-antitrypsin deficient patients (p = 0.3122) or in COPD controls (p = 0.1430). Although mean telomere length was significantly shorter in the blood when compared with the lungs (p = 0.0078), telomere length was correlated between the two tissue types (p = 0.0122). Our results indicate that telomere length is better preserved in α1-antitrypsin deficient COPD patients than in non-deficient patients. In addition, measurement of telomere length in the blood may be a suitable surrogate for measurement in the lung.

  11. Combating micronutrient deficiency disorders amongst children

    Directory of Open Access Journals (Sweden)

    Umesh Kapil

    2014-11-01

    further deteriorates their micronutrients nutritional status. The direct supplementation of Micronutrients like Vitamin A, Iron   are beneficial in short term but they are not sustainable. We do not know for how many years or generations we need to continue with direct supplementation. The families also develop a culture of dependence on the “state” for nutrition support. We need to look in to the long term but sustainable strategies. There is a need to strengthen the family resources so that family may able to look after the diet of children and prevent micronutrient deficiencies.The Food Fortification is an important intervention. It is sustainable as the cost of fortification is borne by the beneficiaries who consume the fortified foods like the case of Iodized salt. However, an important consideration for the food fortification strategy is that it increases the cost of foods as compared to non-fortified foods. The poor families who do not have resources to buy raw food, they are more constraint for   availability of foods. There is a need of developing Food Fortification strategies which are scientifically sound, operationally feasible and with proven effectiveness before they are implemented in developing countries. We need to assess this food fortification interventions carefully before we launch them.  We also need   to ensure that the poorest to the poor, including families which are below the poverty line   are covered on priority basis.  The issue of implementation of targeted versus universal fortification of foods needs to be considered based on the epidemiological evidence of prevalence of micronutrient deficiencies in the region for   judicious utilization of resources. To achieve this, there is a need of joining hands amongst the nutrition scientists, public health specialists and food fortification technologists to shoulder responsibility towards devising effective and practical strategies to overcome the emergent challenges of

  12. Selected Systems Engineering Process Deficiencies and Their Consequences

    Science.gov (United States)

    Thomas, Lawrence Dale

    2006-01-01

    The systems engineering process is well established and well understood. While this statement could be argued in the light of the many systems engineering guidelines and that have been developed, comparative review of these respective descriptions reveal that they differ primarily in the number of discrete steps or other nuances, and are at their core essentially common. Likewise, the systems engineering textbooks differ primarily in the context for application of systems engineering or in the utilization of evolved tools and techniques, not in the basic method. Thus, failures in systems engineering cannot credibly be attributed to implementation of the wrong systems engineering process among alternatives. However, numerous systems failures can be attributed to deficient implementation of the systems engineering process. What may clearly be perceived as a system engineering deficiency in retrospect can appear to be a well considered system engineering efficiency in real time - an efficiency taken to reduce cost or meet a schedule, or more often both. Typically these efficiencies are grounded on apparently solid rationale, such as reuse of heritage hardware or software. Over time, unintended consequences of a systems engineering process deficiency may begin to be realized, and unfortunately often the consequence is system failure. This paper describes several actual cases of system failures that resulted from deficiencies in their systems engineering process implementation, including the Ariane 5 and the Hubble Space Telescope.

  13. Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

    Science.gov (United States)

    Ferriero, Rosa; Manco, Giuseppe; Lamantea, Eleonora; Nusco, Edoardo; Ferrante, Mariella I.; Sordino, Paolo; Stacpoole, Peter W.; Lee, Brendan; Zeviani, Massimo; Brunetti-Pierri, Nicola

    2014-01-01

    Lactic acidosis is a build-up of lactic acid in the blood and tissues, which can be due to several inborn errors of metabolism as well as nongenetic conditions. Deficiency of pyruvate dehydrogenase complex (PDHC) is the most common genetic disorder leading to lactic acidosis. Phosphorylation of specific serine residues of the E1α subunit of PDHC by pyruvate dehydrogenase kinase (PDK) inactivates the enzyme, whereas dephosphorylation restores PDHC activity. We found that phenylbutyrate enhances PDHC enzymatic activity in vitro and in vivo by increasing the proportion of unphosphorylated enzyme through inhibition of PDK. Phenylbutyrate given to C57B6/L wild-type mice results in a significant increase in PDHC enzyme activity and a reduction of phosphorylated E1α in brain, muscle, and liver compared to saline-treated mice. By means of recombinant enzymes, we showed that phenylbutyrate prevents phosphorylation of E1α through binding and inhibition of PDK, providing a molecular explanation for the effect of phenylbutyrate on PDHC activity. Phenylbutyrate increases PDHC activity in fibroblasts from PDHC-deficient patients harboring various molecular defects and corrects the morphological, locomotor, and biochemical abnormalities in the noam631 zebrafish model of PDHC deficiency. In mice, phenylbutyrate prevents systemic lactic acidosis induced by partial hepatectomy. Because phenylbutyrate is already approved for human use in other diseases, the findings of this study have the potential to be rapidly translated for treatment of patients with PDHC deficiency and other forms of primary and secondary lactic acidosis. PMID:23467562

  14. HSF1-deficiency affects gait coordination and cerebellar calbindin levels.

    Science.gov (United States)

    Ingenwerth, Marc; Estrada, Veronica; Stahr, Anna; Müller, Hans Werner; von Gall, Charlotte

    2016-09-01

    Heat shock proteins (HSPs) play an important role in cell homeostasis and protect against cell damage. They were previously identified as key players in different ataxia models. HSF1 is the main transcription factor for HSP activation. HSF1-deficient mice (HSF1-/-) are known to have deficiencies in motor control test. However, little is known about effects of HSF1-deficiency on locomotor, especially gait, coordination. Therefore, we compared HSF-deficient (HSF1-/-) mice and wildtype littermates using an automated gait analysis system for objective assessment of gait coordination. We found significant changes in gait parameters of HSF1-/- mice reminiscent of cerebellar ataxia. Immunohistochemical analyses of a cerebellum revealed co-localization of HSF1 and calbindin in Purkinje cells. Therefore, we tested the hypothesis of a potential interconnection between HSF1 and calbindin in Purkinje cells. Calbindin levels were analyzed qualitatively and quantitatively by immunohistochemistry and immunoblotting, respectively. While quantitative PCR revealed no differences in calbindin mRNA levels between HSF1+/+ and HSF1-/- mice, calbindin protein levels, however, were significantly decreased in a cerebellum of HSF1-/- mice. A pathway analysis supports the hypothesis of an interconnection between HSF1 and calbindin. In summary, the targeted deletion of HSF1 results in changes of locomotor function associated with changes in cerebellar calbindin protein levels. These findings suggest a role of HSF1 in regular Purkinje cell calcium homeostasis. PMID:27173427

  15. Pathology of Bursae of Fabricius in Methionine-Deficient Broiler Chickens

    Directory of Open Access Journals (Sweden)

    Xiaodong Liu

    2013-03-01

    Full Text Available The purpose of this 42-day study was to investigate the effects of methionine (Met deficiency on immune function by determining the relative weight, morphological and ultrastructural changes of bursae of Fabricius, cell cycle, and apoptosis of bursa cells. One hundred and twenty one-day-old avian broilers were randomly divided into two groups and fed on a control diet (starter diet, Met 0.50%; grower diet, Met 0.40% and Met-deficient diet (starter diet, Met 0.26%; grower diet, Met 0.28% for six weeks. The relative weight of bursae was decreased with Met deficiency when compared to that of the control group. Lesions were also observed in the Met-deficient group. Histopathologically, the numbers of lymphocytes in the follicles were decreased. Ultrastructurally, the mitochondria of lymphocytes were swollen in the Met-deficient group. As measured by flow cytometry, bursal cells in the G0G1 phase were significantly higher (P < 0.01, and bursal cells in the S, G2M phases and proliferating index were obviously lower (P < 0.01 with Met deficiency than in the control group. Moreover, the percentage of apoptotic cells in the bursae were significantly increased in Met-deficient birds (P < 0.01. It was concluded that Met deficiency restrained the development of the bursae of Fabricius and affected the humoral immunity of the chickens.

  16. Deficient approaches to human neuroimaging

    DEFF Research Database (Denmark)

    Stelzer, Johannes; Lohmann, Gabriele; Mueller, Karsten;

    2014-01-01

    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...... 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....

  17. 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.

  18. [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. PMID:27106490

  19. [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.

  20. Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

    Science.gov (United States)

    Schaefer, Benedikt; Haschka, David; Finkenstedt, Armin; Petersen, Britt-Sabina; Theurl, Igor; Henninger, Benjamin; Janecke, Andreas R; Wang, Chia-Yu; Lin, Herbert Y; Veits, Lothar; Vogel, Wolfgang; Weiss, Günter; Franke, Andre; Zoller, Heinz

    2015-11-01

    Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated with hepatic iron overload in a subgroup of patients. The underlying cause for this association is unknown. The aim of the present study was to define the genetics of this correlation and the effect of alpha-1-antitrypsin (A1AT) on the expression of the iron hormone hepcidin. Full exome and candidate gene sequencing were carried out in a family with A1ATD and hepatic iron overload. Regulation of hepcidin expression by A1AT was studied in primary murine hepatocytes. Cells co-transfected with hemojuvelin (HJV) and matriptase-2 (MT-2) were used as a model to investigate the molecular mechanism of this regulation. Observed familial clustering of hepatic iron overload with A1ATD suggests a genetic cause, but genotypes known to be associated with hemochromatosis were absent. Individuals homozygous for the A1AT Z-allele with environmental or genetic risk factors such as steatosis or heterozygosity for the HAMP non-sense mutation p.Arg59* presented with severe hepatic siderosis. In hepatocytes, A1AT induced hepcidin mRNA expression in a dose-dependent manner. Experiments in overexpressing cells show that A1AT reduces cleavage of the hepcidin inducing bone morphogenetic protein co-receptor HJV via inhibition of the membrane-bound serine protease MT-2. The acute-phase protein A1AT is an inducer of hepcidin expression. Through this mechanism, A1ATD could be a trigger of hepatic iron overload in genetically predisposed individuals or patients with environmental risk factors for hepatic siderosis. PMID:26310624

  1. Genetics Home Reference: pyruvate kinase deficiency

    Science.gov (United States)

    ... National (UK) Information Centre for Metabolic Diseases National Organization for Rare Disorders (NORD): Pyruvate Kinase Deficiency Genetic Testing Registry (1 link) Pyruvate kinase deficiency of red cells Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  2. 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 ...

  3. 30 CFR 57.5015 - Oxygen deficiency.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Oxygen deficiency. 57.5015 Section 57.5015..., Physical Agents, and Diesel Particulate Matter Air Quality-Underground Only § 57.5015 Oxygen deficiency. Air in all active workings shall contain at least 19.5 volume percent oxygen....

  4. Acquired Zinc Deficiency in an Adult Female

    OpenAIRE

    Mohanan Saritha; Divya Gupta; Laxmisha Chandrashekar; Devinder M Thappa; Nachiappa G Rajesh

    2012-01-01

    Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohn′s disease. We report a 24-year-old housewife with acquired isolated severe zinc deficiency with no other comorbidities to highlight the rare occurrence of isolated nutritional zinc deficiency in an otherwise normal patient.

  5. Academic Deficiency: Student Experiences of Institutional Labeling

    Science.gov (United States)

    Barouch-Gilbert, Abraham

    2015-01-01

    Limited existing research examines how undergraduate students in the United States experience the process of being identified as deficient due to their academic performance. The purpose of this phenomenological study was to explore the lived experiences of college students on academic probation who were labeled academically deficient. Students…

  6. Short Stature and Growth Hormone Deficiency

    OpenAIRE

    Matemi, Sezer

    1994-01-01

    This paper summarizes the importance of measurements of height and weight in normal children and emphasizes the role of growth increments for the diagnosis of short stature Causes of short stature methods for diagnosis of GH hormone deficiency actions of growth hormone treatment of growth hormone deficiency and doses for biosynthetic GH treatment are described Key words: Short Stature Growth Hormone

  7. 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…

  8. Genetics Home Reference: complement factor I deficiency

    Science.gov (United States)

    ... the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. ... in my area? Other Names for This Condition C3 inactivator deficiency complement component 3 inactivator deficiency Related Information How are ...

  9. Breath hydrogen test and sucrase isomaltase deficiency.

    OpenAIRE

    Ford, R P; Barnes, G L

    1983-01-01

    Sucrose breath hydrogen tests were performed on 7 children with proved sucrase isomaltase deficiency. All children had raised breath hydrogen excretion. The amount of hydrogen produced and symptoms experienced increased with increasing sucrose loads. The sucrose breath hydrogen test appears to be a reliable indicator of sucrose malabsorption in sucrase isomaltase deficiency.

  10. How Best To Utilize a Deficiency.

    Science.gov (United States)

    Miller, Patricia H.

    2000-01-01

    Focuses on the importance and meaning of the degree of spontaneity in memory strategy production. Situates the concept of utilization deficiency within current work on memory strategy heterogeneity, contextual support, and situation-specific skills. Concludes that work on utilization deficiencies helps balance the focus on early emergence of…

  11. 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.

  12. [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. PMID:25586321

  13. [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.

  14. Effect of Fe Deficiency on Antioxidant System in Leaves of Three Flax Cultivars

    Directory of Open Access Journals (Sweden)

    Zeinab Abd El-Rahman SALAMA

    2009-06-01

    Full Text Available The potential role of antioxidant enzymes as well as antioxidant compounds in protecting plant from the deleterious effect of iron deficiency was examined in different flax Linum usitassimum L. cultivars. Three flax cultivars (Sakha 1, Sakha 2 and Giza 8 were grown in water culture with (Fe-sufficient plants, +Fe or without (Fe-deficient plants,-Fe iron supply for 40 days. The obtained results showed that, iron deficiency severely decreased dry weight and concentration of iron in all cultivars leaf tissue. Besides this, to verify whether iron deficiency could induce alteration in reactive oxygen species, high concentration of lipid peroxidation (TBARS and H2O2 content in leaves of flax cultivars were detected under (-Fe compared to (+Fe treatments. Iron deficiency can also modulate the content of glutathione (GSH level, which were significantly increased in Fe deficient treatment compared to Fe-sufficient treatment among cultivars. Activity of superoxide dismutase (SOD was increased under deficient treatment. In contrast, significant differences were observed between cultivars in the activity of Fe containing enzymes such as ascorbate peroxidase (APX, peroxidase (POD and catalase (CAT that was greater under Fe sufficient treatment, suggesting higher amounts of physiological iron in leaf tissue of all cultivars. In addition, some changes in POD isoenzyme profile was detected under iron stress.These results suggested that, these antioxidant compounds are the key compounds to protect cell from oxidative injury.

  15. Relationship between iron deficiency anemia and febrile convulsion in infants

    Directory of Open Access Journals (Sweden)

    Youn Soo Jun

    2010-03-01

    Full Text Available Purpose : The association between iron deficiency anemia and febrile convulsion in infants has been examined in several studies with conflicting results. Therefore, the authors aimed to evaluate the precise relationship involved. Methods : In this case-control study, the authors assessed 100 children with a diagnosis of febrile convulsion, aged between 9 months and 2 years, during January 2007 to July 2009. The control group consisted of 100 febrile children without convulsion; controls were closely matched to the cases by age, gender, and underlying disease. Results : The mean ages of the febrile convulsion and control group were 16.3¡?#?.4 ;and 15.8¡?#?.1 ;months, respectively, and the two groups had no differences in clinical features. Iron deficiency anemia (Hb &lt;10.5 gm/dL was more frequent in the febrile convulsion group than in the control group, although there was no statistical significance. Unexpectably, the RDW (red blood cell distribution width was significantly lower and the MCNC (mean corpuscular hemoglobin concentration was significantly higher among seizure cases than among the controls (P&lt;0.05. There is no statistical difference between simple and complex febrile groups in the clinical and laboratory profiles. On multiple logistic regression analysis, iron deficiency anemia was more frequent, but the RDW was lower, among the cases with febrile convulsion, compared with the controls. Conclusions : Our study suggests that the iron deficiency anemia is associated with febrile convulsion, and screening for iron deficiency anemia should be considered in children with febrile convulsions.

  16. [Effect of zinc deficiency on 3',5'-cyclic-AMP content and parameters of energy metabolism in the rat].

    Science.gov (United States)

    Roth, H P; Kirchgessner, M

    1983-06-01

    Loss of appetite, strongly reduced feed intake, and stop in weight gain are characteristic signs of alimentary zinc deficiency. The present paper investigates some parameters of the energy metabolism of Zn-deficient rats in order to obtain information on possible disturbances. The blood of Zn-deficient rats showed an increased activity of adenosine triphosphatase (ATPase) in comparison to ad-libitum- and pair-fed control animals. Therefore the concentration of adenosine triphosphate (ATP) was reduced and the concentration of adenosine diphosphate (ADP) increased in deficient animals. As a consequence, the ratio ATP/ADP was strongly reduced in Zn-deficient rats compared with both control groups. The concentration of adenosine monophosphate (AMP) was reduced in the blood of Zn-deficient rats. The levels of c-AMP in serum and urine were markedly increased in Zn-deficient rats in comparison with both control groups. Key enzymes of energetic utilization of carbohydrates such as fructose-1.6-biphosphatase and glucose-6-phosphate dehydrogenase were reduced in their activities in livers and kidneys of Zn-deficient animals. The results show that alimentary Zn deficiency impairs some parameters of the energy metabolism. The problems of reduced feed intake in Zn deficiency still remain unsolved. PMID:6308919

  17. Effects of iron deficiency on cognitive function in school going adolescent females in rural area of central India.

    Science.gov (United States)

    More, Sarika; Shivkumar, V B; Gangane, Nitin; Shende, Sumeet

    2013-01-01

    Iron deficiency anemia is most common nutritional deficiency disorder in India and remains a formidable health challenge. Girls in the period of later school age and early adolescence are prone to develop iron deficiency. Iron deficiency leads to many non-hematological disturbances which include growth and development, depressed immune function in infants; reduces physical work capacity; decreases the cognitive function in both infants and adolescents. Present study was done to know the prevalence of iron deficiency in both the anemic and non anemic school going adolescent girls, to assess the effect of iron deficiency on cognitive functions in anemic iron deficient and non-anemic iron deficient school girls in a village school situated in central India. Methods. A secondary school having girl students in the age group of 12-15 years studying in sixth to ninth standard was selected. Serum ferritin concentration was estimated by ELISA. For assessing the cognitive function mathematics score, one multi-component test for memory, attention and verbal learning and Intelligent Quotient scores of the students were used. Results. Scholastic Performance, IQ and Scores of Mental balance, Attention & Concentration, Verbal Memory and Recognition were decreased in iron deficient girls, both anemic and non anemic as compared to the non iron deficient girls.

  18. Effects of iron deficiency on cognitive function in school going adolescent females in rural area of central India.

    Science.gov (United States)

    More, Sarika; Shivkumar, V B; Gangane, Nitin; Shende, Sumeet

    2013-01-01

    Iron deficiency anemia is most common nutritional deficiency disorder in India and remains a formidable health challenge. Girls in the period of later school age and early adolescence are prone to develop iron deficiency. Iron deficiency leads to many non-hematological disturbances which include growth and development, depressed immune function in infants; reduces physical work capacity; decreases the cognitive function in both infants and adolescents. Present study was done to know the prevalence of iron deficiency in both the anemic and non anemic school going adolescent girls, to assess the effect of iron deficiency on cognitive functions in anemic iron deficient and non-anemic iron deficient school girls in a village school situated in central India. Methods. A secondary school having girl students in the age group of 12-15 years studying in sixth to ninth standard was selected. Serum ferritin concentration was estimated by ELISA. For assessing the cognitive function mathematics score, one multi-component test for memory, attention and verbal learning and Intelligent Quotient scores of the students were used. Results. Scholastic Performance, IQ and Scores of Mental balance, Attention & Concentration, Verbal Memory and Recognition were decreased in iron deficient girls, both anemic and non anemic as compared to the non iron deficient girls. PMID:24386560

  19. Vitamin-D Deficiency and Comorbidities in Children with Sickle Cell Anemia

    OpenAIRE

    Jackson, Tara Christine; Krauss, Melissa Jo; DeBaun, Michael Rutledge; Strunk, Robert Charles; Arbeláez, Ana Maria

    2012-01-01

    Vitamin-D deficiency is known to be common among patients with Sickle Cell Anemia (SCA). Vitamin-D levels were measured in 139 children (aged 7.9-15.1 years) to study its association with SCA morbidities; severe deficiency (30 ng/mL). Vitamin-D levels were associated with pulmonary function (FEV1), but not associated with either rates of acute pain or acute chest syndrome episodes. Further studies are needed to be able to compare outcomes in those with deficiency to those with sufficiency, as...

  20. Possible association between vitamin D deficiency and restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Oran M

    2014-05-01

    Full Text Available Mustafa Oran,1 Cuneyt Unsal,2 Yakup Albayrak,2 Feti Tulubas,3 Keriman Oguz,4 Okan Avci,1 Nilda Turgut,4 Recep Alp,4 Ahmet Gurel3 1Department of Internal Medicine, 2Department of Psychiatry, 3Department of Biochemistry, 4Department of Neurology, Namik Kemal University, Faculty of Medicine, Tekirdağ, Turkey Background and aim: Restless legs syndrome (RLS is a distressing sleep disorder that occurs worldwide. Although there have been recent developments in understanding the pathophysiology of RLS, the exact mechanism of the disease has not been well elucidated. An increased prevalence of neurologic and psychiatric diseases involving dopaminergic dysfunction in vitamin D-deficient patients led us to hypothesize that vitamin D deficiency might result in dopaminergic dysfunction and consequently, the development of RLS (in which dopaminergic dysfunction plays a pivotal role. Thus, the aim of this study was to evaluate the relationship between vitamin D deficiency and RLS. Methods: One hundred and fifty-five consecutive patients, 18–65 years of age, who were admitted to the Department of Internal Medicine with musculoskeletal symptoms and who subsequently underwent neurological and electromyography (EMG examination by the same senior neurologist, were included in this study. The patients were divided into two groups according to serum 25-hydroxyvitamin D (25(OHD (a vitamin D metabolite used as a measure of vitamin D status level: 36 patients with serum 25(OHD levels ≥20 ng/mL comprised the normal vitamin D group, and 119 patients with serum 25(OHD levels <20 ng/mL comprised the vitamin D deficiency group. The two groups were compared for the presence of RLS and associated factors. Results: The two groups were similar in terms of mean age, sex, mean body mass index (BMI, and serum levels of calcium, phosphate, alkaline phosphatase (ALP, and ferritin. The presence of RLS was significantly higher in the vitamin D deficiency group (χ2=12.87, P<0

  1. 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

  2. Folate deficiency affects histone methylation.

    Science.gov (United States)

    Garcia, Benjamin A; Luka, Zigmund; Loukachevitch, Lioudmila V; Bhanu, Natarajan V; Wagner, Conrad

    2016-03-01

    that the bound THF serves to protect the FAD class of histone demethylases from the destructive effects of formaldehyde generation by formation of 5,10-methylene-THF. We present pilot data showing that decreased folate in livers as a result of dietary folate deficiency is associated with increased levels of methylated lysine 4 of histone 3. This can be a result of decreased LSD1 activity resulting from the decreased folate available to scavenge the formaldehyde produced at the active site caused by the folate deficiency. Because LSD1 can regulate gene expression this suggests that folate may play a more important role than simply serving as a carrier of one-carbon units and be a factor in other diseases associated with low folate. PMID:26880641

  3. Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency

    DEFF Research Database (Denmark)

    Lee, Peter A; Sävendahl, Lars; Oliver, Isabelle;

    2012-01-01

    Few studies have compared the response to growth hormone (GH) treatment between indications such as isolated growth hormone deficiency (IGHD), born small for gestational age (SGA), idiopathic short stature (ISS), and multiple pituitary hormone deficiency (MPHD). The aim of this analysis of data, ...

  4. 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

  5. Serum zinc levels in patients with iron deficiency anemia and its association with symptoms of iron deficiency anemia.

    Science.gov (United States)

    Kelkitli, Engin; Ozturk, Nurinnisa; Aslan, Nevin Alayvaz; Kilic-Baygutalp, Nurcan; Bayraktutan, Zafer; Kurt, Nezahat; Bakan, Nuri; Bakan, Ebubekir

    2016-04-01

    Iron deficiency anemia (IDA) is a major public health problem especially in underdeveloped and developing countries. Zinc is the co-factor of several enzymes and plays a role in iron metabolism, so zinc deficiency is associated with IDA. In this study, it was aimed to investigate the relationship of symptoms of IDA and zinc deficiency in adult IDA patients. The study included 43 IDA patients and 43 healthy control subjects. All patients were asked to provide a detailed history and were subjected to a physical examination. The hematological parameters evaluated included hemoglobin (Hb); hematocrit (Ht); red blood cell (erythrocyte) count (RBC); and red cell indices mean corpuscular volume (MCV), mean corpuscular hemoglobin (МСН), mean corpuscular hemoglobin concentration (МСНС), and red cell distribution width (RDW). Anemia was defined according to the criteria defined by the World Health Organization (WHO). Serum zinc levels were measured in the flame unit of atomic absorption spectrophotometer. Symptoms attributed to iron deficiency or depletion, defined as fatigue, cardiopulmonary symptoms, mental manifestations, epithelial manifestations, and neuromuscular symptoms, were also recorded and categorized. Serum zinc levels were lower in anemic patients (103.51 ± 34.64 μ/dL) than in the control subjects (256.92 ± 88.54 μ/dL; zinc level zinc level > 100 μ/dL. When the serum zinc level was compared with pica, no statistically significant correlation was found (p = 0.742). Zinc is a trace element that functions in several processes in the body, and zinc deficiency aggravates IDA symptoms. Measurement of zinc levels and supplementation if necessary should be considered for IDA patients.

  6. 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 ...

  7. Genetics Home Reference: mannose-binding lectin deficiency

    Science.gov (United States)

    ... Health Conditions mannose-binding lectin deficiency mannose-binding lectin deficiency Enable Javascript to view the expand/collapse ... PDF Open All Close All Description Mannose-binding lectin deficiency is a condition that affects the immune ...

  8. 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 Enable Javascript to view ... boxes. Download PDF Open All Close All Description Ataxia with vitamin E deficiency is a disorder that ...

  9. Flu Vaccine Guidance for Patients with Immune Deficiency

    Science.gov (United States)

    ... Vaccine Guidance for Patients with Immune Deficiency Share | Flu Vaccine Guidance for Patients with Immune Deficiency This ... is the best tool for prevention of the flu, should patients with immune deficiency be given the ...

  10. Responses of barley root and shoot proteomes to long‐term nitrogen deficiency, short‐term nitrogen starvation and ammonium

    DEFF Research Database (Denmark)

    Laurell Blom Møller, Anders; Pedas, Pai; Andersen, Birgit;

    2011-01-01

    plants grown hydroponically for 33 d with 5 mm nitrate, plants grown under N deficiency (0.5 mm nitrate, 33 d) or short‐term N starvation (28 d with 5 mm nitrate followed by 5 d with no N source) were compared. N deficiency caused changes in C and N metabolism and ascorbate‐glutathione cycle enzymes...

  11. 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.

  12. Primary Immuno-deficiencies (PID

    Directory of Open Access Journals (Sweden)

    Javad Ghaffari1

    2009-01-01

    Full Text Available (Received 6 June, 2009 ; Accepted 22 July, 2009AbstractBackground and purpose: Primary immune-deficiencies (PID are associated with a wide range of clinical disorders along with variable symptoms. The aim of this study was to evaluate and improve our knowledge regarding PID from patients that were referred to Booali Sina Hospital.Materials and methods: We evaluated all of PID`s that were referred to Booali Sina Hospital from their data records. Demography, clinical and laboratory data were recorded and then analyzed.Results: In the duration of 3 years, we had 10 patients with PID (7 males and 3 females. Of these cases, 5 had hum oral (50%, 1case had phagocytic (10%, 3 cases had cellular (30% and 1 case had hyper IgE syndrome (10%. Many of them had respiratory and otitis media infections, while a few patients had adenitis, gastroenteritis, liver abscesses, bleedings and malignancy.Conclusion: PID is a diverse disorder that involves different immune systems. Knowledge from patient’s clinical symptoms and consideration in their differential diagnosis can be helpful in early diagnosis and an effective treatment.J Mazand Univ Med Sci 2009; 19(70: 76-80 (Persian

  13. 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.

  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. 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.

  16. Iron and Ferritin Levels in Saliva of Patients with Thalassemia and Iron Deficiency Anemia

    OpenAIRE

    Canatan, Duran; Akdeniz, Sevgi Kosaci

    2012-01-01

    Most of the techniques for measuring iron stores such as serum iron concentration, iron binding capacity, serum ferritin level, liver biopsy can be troublesome or invasive for patients with thalassemia. The salivary iron measurement could be of potential advantage being an easy and non invasive approach for diagnosis of iron deficiency and iron overload . The aim of this study was to compare the levels of iron and ferritin in saliva and serum of patients affected by thalassemia or iron defici...

  17. Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

    OpenAIRE

    Ajmal Kader; Christina Ong; Veena Logarajah; Kong Boo Phua; Ee Shien Tan

    2014-01-01

    Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races. Mutations in both sets of chromosomes often lead to self-limiting early onset cholestasis and growth retardation referred as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). It is associated with a wide range of metabolic d...

  18. Palm Tocotrienol Supplementation Enhanced Bone Formation in Oestrogen-Deficient Rats

    OpenAIRE

    Ima Nirwana Soelaiman; Wang Ming; Roshayati Abu Bakar; Nursyahrina Atiqah Hashnan; Hanif Mohd Ali; Norazlina Mohamed; Norliza Muhammad; Ahmad Nazrun Shuid

    2012-01-01

    Postmenopausal osteoporosis is the commonest cause of osteoporosis. It is associated with increased free radical activity induced by the oestrogen-deficient state. Therefore, supplementation with palm-oil-derived tocotrienols, a potent antioxidant, should be able to prevent this bone loss. Our earlier studies have shown that tocotrienol was able to prevent and even reverse osteoporosis due to various factors, including oestrogen deficiency. In this study we compared the effects of supplementa...

  19. Growth hormone replacement therapy in adults with growth hormone deficiency; thrice weekly low dose administration.

    OpenAIRE

    Y.S. Chung; Lee, H C; S.K. Hwang; Paik, I. K.; Lee, J.H.; Huh, K. B.

    1994-01-01

    Recent reports on growth hormone (GH) therapy have shown that GH has various beneficial effects in GH deficient adults. In most of these studies, GH was administered daily. Because GH is still expensive and has to be delivered by subcutaneous injection, we studied the 6-month therapeutic effects of thrice weekly GH injection therapy and compared it with daily therapy. Twenty eight adult patients with GH deficiency were randomly assigned into group 1 (ten cases, thrice weekly injections of GH)...

  20. 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...

  1. C3 Deficiency – A Case Report

    OpenAIRE

    Carreiro-Martins, P; Gaspar, A.; Rosado-Pinto, J.

    2006-01-01

    O sistema do complemento é um componente essencial do sistema imunitário inato, pelo que as deficiências de proteínas da sua complexa cascata podem ter consequências mais ou menos graves, de acordo com a importância do factor afectado. As complicações mais usuais das deficiências do complemento são infecções recorrentes a bactérias encapsuladas e distúrbios autoimunes. Os autores apresentam um caso clínico de deficiência do factor C3, situação extremamente rara, discutindo a fisiopatolo...

  2. 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.

  3. The clinical spectrum of hexosaminidase deficiency diseases.

    Science.gov (United States)

    Johnson, W G

    1981-11-01

    Hexosaminidase deficiency diseases or GM2-gangliosidoses were originally described as infantile encephalopathies. Recently, hexosaminidase deficiencies have been found with different phenotypes, including juvenile and adult encephalopathies, cerebellar ataxias, and motor neuron diseases. Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich ataxia, amyotrophic lateral sclerosis, Kugelberg-Welander disease, Fazio-Londe disease, and Charcot-Marie-Tooth disease. Tremor, dystonia, spastic paresis, and psychosis have been seen. Since few diagnosable causes for these system atrophies are known, these patients should be tested for hexosaminidase deficiency. These recessive disorders fit a multiple loci/multiple alleles genetic scheme, and a clinical genetic classification is presented.

  4. Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency

    Science.gov (United States)

    Yaghini, Omid

    2016-01-01

    Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emissions showed bilaterally normal responses representing normal function of outer hair cells. In contrast, acoustic reflex test showed absent reflexes bilaterally, and visual reinforcement audiometry and auditory brainstem responses indicated severe to profound hearing loss in both ears. These results suggest AN/AD in patients with Biotinidase deficiency. PMID:27144235

  5. 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. PMID:26664847

  6. ABSENCE OF A THYROID PHENOTYPE IN SORTILIN-DEFICIENT MICE

    DEFF Research Database (Denmark)

    Lisi, Simonetta; Madsen, Peder; Botta, Roberta;

    2015-01-01

    in the thyroid gland using sortilin-deficient mice. METHODS: We measured free T4, thyroid-stimulating hormone (TSH) and Tg serum levels and studied thyroid morphology in 14 sortilin-deficient (Sort1)(-/-)and 12 wildtype (WT) mice. RESULTS: Serum free T4 levels did not differ between Sort1(-/-)and WT females......OBJECTIVE: The Vps10p family member sortilin is expressed in thyroid epithelial cells where it contributes to recycling of the thyroid hormone precursor thyroglobulin (Tg), a process that is thought to render hormone release more effective. Here we investigated the functional impact of sortilin...... but were significantly lower in Sort1(-/-)males compared with WT (P = .0424). Neither serum TSH nor Tg levels differed between Sort1(-/-)and WT mice, regardless of sex. On the same line, no thyroid histology differences were observed. CONCLUSION: Our findings seem to exclude a role of sortilin in thyroid...

  7. Hepcidin expression in the liver of rats fed a magnesium-deficient diet.

    Science.gov (United States)

    Ishizaki, Natsumi; Kotani, Megumi; Funaba, Masayuki; Matsui, Tohru

    2011-10-01

    Mg deficiency accelerates Fe accumulation in the liver, which may induce various metabolic disturbances. In the present study, we examined the gene expression of Hepcidin, a peptide hormone produced in the liver to regulate intestinal Fe absorption negatively, in Mg-deficient rats. Although liver Fe concentration was significantly higher in rats fed an Mg-deficient diet for 4 weeks than in rats fed a control diet, Hepcidin expression in the liver was comparable between the dietary groups. Previous studies revealed that Fe overload up-regulated Hepcidin expression through transcriptional activation by Fe-induced bone morphogenetic protein (Bmp) 6, a growth/differentiation factor belonging to the transforming growth factor-β family, in the liver. Mg deficiency up-regulated the expression of Bmp6 but did not affect the expression of inhibition of DNA binding 1, a sensitive Bmp-responsive gene. In addition, the expression of Bmp receptors such as activin receptor-like kinase 2 (Alk2), activin receptor type IIA (Actr2a), activin receptor type IIB (Actr2b) and Bmp type II receptor (Bmpr2) was lower in the liver of Mg-deficient rats than in that of control rats. The present study indicates that accumulation of hepatic Fe by Mg deficiency is a stimulant inducing Bmp6 expression but not Hepcidin expression by blunting Bmp signalling possibly resulting from down-regulation of the receptor expression. Unresponsive Hepcidin expression may have a role in Mg deficiency-induced changes related to increased liver Fe.

  8. 25-Hydroxyvitamin D3-deficiency enhances oxidative stress and corticosteroid resistance in severe asthma exacerbation.

    Directory of Open Access Journals (Sweden)

    Nan Lan

    Full Text Available Oxidative stress plays a significant role in exacerbation of asthma. The role of vitamin D in oxidative stress and asthma exacerbation remains unclear. We aimed to determine the relationship between vitamin D status and oxidative stress in asthma exacerbation. Severe asthma exacerbation patients with 25-hydroxyvitamin D3-deficiency (V-D deficiency or 25-hydroxyvitamin D-sufficiency (V-D sufficiency were enrolled. Severe asthma exacerbation with V-D-deficiency showed lower forced expiratory volume in one second (FEV1 compared to that with V-D-sufficiency. V-D-deficiency intensified ROS release and DNA damage and increased TNF-α, OGG1 and NFκB expression and NFκB phosphorylation in severe asthma exacerbation. Supplemental vitamin D3 significantly increased the rates of FEV1 change and decreased ROS and DNA damage in V-D-deficiency. Vitamin D3 inhibited LPS-induced ROS and DNA damage and were associated with a decline in TNF-α and NFκB in epithelial cells. H2O2 reduces nuclear translocation of glucocorticoid receptors in airway epithelial cell lines. V-D pretreatment enhanced the dexamethasone-induced nuclear translocation of glucocorticoid receptors in airway epithelial cell lines and monocytes from 25-hydroxyvitamin D3-deficiency asthma patients. These findings indicate that V-D deficiency aggravates oxidative stress and DNA damage, suggesting a possible mechanism for corticosteroid resistance in severe asthma exacerbation.

  9. 25-Hydroxyvitamin D3-deficiency enhances oxidative stress and corticosteroid resistance in severe asthma exacerbation.

    Science.gov (United States)

    Lan, Nan; Luo, Guangyan; Yang, Xiaoqiong; Cheng, Yuanyuan; Zhang, Yun; Wang, Xiaoyun; Wang, Xing; Xie, Tao; Li, Guoping; Liu, Zhigang; Zhong, Nanshan

    2014-01-01

    Oxidative stress plays a significant role in exacerbation of asthma. The role of vitamin D in oxidative stress and asthma exacerbation remains unclear. We aimed to determine the relationship between vitamin D status and oxidative stress in asthma exacerbation. Severe asthma exacerbation patients with 25-hydroxyvitamin D3-deficiency (V-D deficiency) or 25-hydroxyvitamin D-sufficiency (V-D sufficiency) were enrolled. Severe asthma exacerbation with V-D-deficiency showed lower forced expiratory volume in one second (FEV1) compared to that with V-D-sufficiency. V-D-deficiency intensified ROS release and DNA damage and increased TNF-α, OGG1 and NFκB expression and NFκB phosphorylation in severe asthma exacerbation. Supplemental vitamin D3 significantly increased the rates of FEV1 change and decreased ROS and DNA damage in V-D-deficiency. Vitamin D3 inhibited LPS-induced ROS and DNA damage and were associated with a decline in TNF-α and NFκB in epithelial cells. H2O2 reduces nuclear translocation of glucocorticoid receptors in airway epithelial cell lines. V-D pretreatment enhanced the dexamethasone-induced nuclear translocation of glucocorticoid receptors in airway epithelial cell lines and monocytes from 25-hydroxyvitamin D3-deficiency asthma patients. These findings indicate that V-D deficiency aggravates oxidative stress and DNA damage, suggesting a possible mechanism for corticosteroid resistance in severe asthma exacerbation.

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

    Directory of Open Access Journals (Sweden)

    Amrit Kaur eNanda

    2016-03-01

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

  11. Iron-responsive olfactory uptake of manganese improves motor function deficits associated with iron deficiency.

    Directory of Open Access Journals (Sweden)

    Jonghan Kim

    Full Text Available Iron-responsive manganese uptake is increased in iron-deficient rats, suggesting that toxicity related to manganese exposure could be modified by iron status. To explore possible interactions, the distribution of intranasally-instilled manganese in control and iron-deficient rat brain was characterized by quantitative image analysis using T1-weighted magnetic resonance imaging (MRI. Manganese accumulation in the brain of iron-deficient rats was doubled after intranasal administration of MnCl(2 for 1- or 3-week. Enhanced manganese level was observed in specific brain regions of iron-deficient rats, including the striatum, hippocampus, and prefrontal cortex. Iron-deficient rats spent reduced time on a standard accelerating rotarod bar before falling and with lower peak speed compared to controls; unexpectedly, these measures of motor function significantly improved in iron-deficient rats intranasally-instilled with MnCl(2. Although tissue dopamine concentrations were similar in the striatum, dopamine transporter (DAT and dopamine receptor D(1 (D1R levels were reduced and dopamine receptor D(2 (D2R levels were increased in manganese-instilled rats, suggesting that manganese-induced changes in post-synaptic dopaminergic signaling contribute to the compensatory effect. Enhanced olfactory manganese uptake during iron deficiency appears to be a programmed "rescue response" with beneficial influence on motor impairment due to low iron status.

  12. Sex-specific attentional deficits in adult vitamin D deficient BALB/c mice.

    Science.gov (United States)

    Groves, Natalie J; Burne, Thomas H J

    2016-04-01

    Epidemiological studies have shown an association between vitamin D deficiency and cognitive impairment. However, there is a paucity of preclinical data showing that vitamin D deficiency is a causal factor for impaired cognitive processing. The aim of this study was to assess two cognitive tasks, the 5 choice-serial reaction task and the 5 choice-continuous performance task in adult vitamin D (AVD) deficient BALB/c mice. Ten-week old male and female BALB/c mice were fed a control or vitamin D deficient diet for 10 weeks prior to, and during behavioural testing. We found sex-dependent impairments in attentional processing and showed that male AVD-deficient mice were less accurate, took longer to respond when making a correct choice and were more likely to make an omission, without a change in the motivation to collect reward. By contrast, female AVD-deficient mice had a reduced latency to collect reward, but no changes on any other measures compared to controls. Therefore, we have shown that in otherwise healthy adult mice, vitamin D deficiency led to mild cognitive impairment in male but not female mice and therefore this model will be useful for future investigations into unravelling the mechanism by which vitamin D affects the adult brain and cognitive function. PMID:26836278

  13. The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.

    Science.gov (United States)

    Uaesoontrachoon, Kitipong; Cha, Hee-Jae; Ampong, Beryl; Sali, Arpana; Vandermeulen, Jack; Wei, Benjamin; Creeden, Brittany; Huynh, Tony; Quinn, James; Tatem, Kathleen; Rayavarapu, Sree; Hoffman, Eric P; Nagaraju, Kanneboyina

    2013-10-01

    An absence of dysferlin leads to activation of innate immune receptors such as Toll-like receptors (TLRs) and skeletal muscle inflammation. Myeloid differentiation primary response gene 88 (MyD88) is a key mediator of TLR-dependent innate immune signalling. We hypothesized that endogenous TLR ligands released from the leaking dysferlin-deficient muscle fibres engage TLRs on muscle and immune cells and contribute to disease progression. To test this hypothesis, we generated and characterized dysferlin and MyD88 double-deficient mice. Double-deficient mice exhibited improved body weight, grip strength, and maximum muscle contractile force at 6-8 months of age when compared to MyD88-sufficient, dysferlin-deficient A/J mice. Double-deficient mice also showed a decrease in total fibre number, which contributed to the observed increase in the number of central nuclei/fibres. These results indicate that there was less regeneration in the double-deficient mice. We next tested the hypothesis that endogenous ligands, such as single-stranded ribonucleic acids (ssRNAs), released from damaged muscle cells bind to TLR-7/8 and perpetuate the disease progression. We found that injection of ssRNA into the skeletal muscle of pre-symptomatic mice (2 months old) resulted in a significant increase in degenerative fibres, inflammation, and regenerating fibres in A/J mice. In contrast, characteristic histological features were significantly decreased in double-deficient mice. These data point to a clear role for the TLR pathway in the pathogenesis of dysferlin deficiency and suggest that TLR-7/8 antagonists may have therapeutic value in this disease. PMID:23857504

  14. Features and outcomes of malaria infection in glucose-6-phosphatedehydrogenase normal and deficient Nigerian children

    Directory of Open Access Journals (Sweden)

    Adebola Emmanuel Orimadegun

    2014-01-01

    Full Text Available Background & objectives: Malaria and G6PD deficiency-related haemolyses are known causes of hospital admissions in Nigeria and pose great danger to child survival but data on interactions of these two pathologies are scarce. This study was carried out to determine the association between features of Plasmodium falciparum infection and G6PD status. Methods: G6PD and haemoglobin were typed by fluorescent spot test and electrophoresis respectively, in 1120 children with microscopically-proven falciparum malaria. Clinical features of malaria were compared between G6PD normal and deficient children. Results: There were 558 males and 562 females with median age of 35 months (range, 6 months-12 yr. In males, prevalence of G6PD-deficiency in patients with uncomplicated malaria (UM, severe malarial anaemia (SMA and cerebral malaria (CM was 23.4, 7 and 16.7%, respectively compared with 11.1, 7.3 and 4.4%, respectively among females. In both males and females, convulsion and rectal temperature above 38°C were less likely presentations among G6PD-deficient compared with G6PD-normal children (p <0.05. The proportions of children with pallor, convulsion and impaired consciousness were significantly lower among G6PD-deficient than normal males (p <0.05 but these features were not different between deficient and normal females (p >0.05. Interpretation & conclusion: Convulsions, pallor and elevated temperature were more frequent features of malaria in G6PD normal than deficient children. G6PD-deficient male children are protected against impaired consciousness. These differences may offer useful hints in malaria treatment and researches in endemic regions.

  15. Investigation of suspected growth hormone deficiency

    OpenAIRE

    Milner, R. D. G.; Burns, E C

    1982-01-01

    This paper describes views of the Health Services Human Growth Hormone Committee on how a child suspected of growth hormone deficiency should be investigated in a district general hospital or in a regional growth centre.

  16. Genetics Home Reference: GLUT1 deficiency syndrome

    Science.gov (United States)

    ... genetic conditions treated or managed? What is genetic testing? How can I find a genetics professional in my area? Other Names for This Condition De Vivo disease encephalopathy due to GLUT1 deficiency G1D glucose ...

  17. FastStats: Anemia or Iron Deficiency

    Science.gov (United States)

    ... this? Submit What's this? Submit Button NCHS Home Anemia or Iron Deficiency Recommend on Facebook Tweet Share ... visits Number of visits to emergency departments with anemia as the primary hospital discharge diagnosis: 237,000 ...

  18. Sepiapterin Reductase Deficiency: Mimic of Cerebral Palsy

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Researchers at University of California at San Diego, and 22 other US national and international centers studied the clinical, biochemical, and molecular findings in a cohort of 38 patients with sepiapterin reductase deficiency (SRD).

  19. Somatomedin C deficiency in Asian sisters.

    OpenAIRE

    McGraw, M E; Price, D A; D. J. Hill

    1986-01-01

    Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

  20. Genetics Home Reference: deoxyguanosine kinase deficiency

    Science.gov (United States)

    ... or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the ... DNA (known as mitochondrial DNA depletion) impairs mitochondrial function ... deficiency . Learn more about the gene associated ...

  1. Vitamin D Deficiency (Beyond the Basics)

    Science.gov (United States)

    ... of Use ©2016 UpToDate, Inc. Patient education: Vitamin D deficiency (Beyond the Basics) Author Marc K Drezner, ... topic last updated: Jun 09, 2015. INTRODUCTION — Vitamin D plays an important role in many places throughout ...

  2. Genetics Home Reference: glutathione synthetase deficiency

    Science.gov (United States)

    ... elevated acidity in the blood and tissues (metabolic acidosis). In addition to the features present in moderate ... Kaabachi N, Hachicha M. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. Fetal Pediatr Pathol. ...

  3. Genetics Home Reference: phosphoglycerate kinase deficiency

    Science.gov (United States)

    ... Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource list from the University of Kansas Medical Center: Metabolic Conditions Genetic Testing Registry (2 links) Deficiency of phosphoglycerate kinase ...

  4. Genetics Home Reference: sepiapterin reductase deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions sepiapterin reductase deficiency sepiapterin reductase ...

  5. Genetics Home Reference: dopamine transporter deficiency syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dopamine transporter deficiency syndrome dopamine ...

  6. Genetics Home Reference: familial glucocorticoid deficiency

    Science.gov (United States)

    ... Clark AJ, Metherell LA. ACTH resistance: genes and mechanisms. Endocr Dev. 2013;24:57-66. doi: 10. ... Metherell LA. Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol. 2013 May 22;371(1- ...

  7. 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 ...

  8. 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.

  9. Androgen deficiency and aging in men.

    OpenAIRE

    Swerdloff, R S; Wang, C

    1993-01-01

    Androgen levels decrease with age in men. Androgen deficiency in men older than 65 years leads to asthenia, a decrease in muscle mass, osteoporosis, and a decrease in sexual activity. Androgen deficiency has been reported to cause changes in mood and cognitive function. The combination of these factors results in impaired quality of life in older men. Androgen replacement therapy in hypogonadal men increases bone and muscle mass, enhances muscle and cardiovascular function, and improves sexua...

  10. 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.

  11. Cobalamin Deficiency: Clinical Picture and Radiological Findings

    OpenAIRE

    Chiara Briani; Chiara Dalla Torre; Valentina Citton; Renzo Manara; Sara Pompanin; Gianni Binotto; Fausto Adami

    2013-01-01

    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...

  12. Congenital leptin deficiency and thyroid function

    OpenAIRE

    Paz-Filho Gilberto; Delibasi Tuncay; Erol Halil K; Wong Ma-Li; Licinio Julio

    2009-01-01

    Abstract Thyroid function is closely related to leptin's secretion by the adipose tissue. In states of leptin-deficiency, the circadian rhythm of TSH is altered, leading to central hypothyroidism in animal models. In humans, central hypothyroidism has also been described in rare cases of congenital leptin deficiency. However, the thyroid phenotype in these cases is heterogeneous, with the occurrence of central hypothyroidism in a minority of cases. Here we describe thyroid function in four l...

  13. Study of neutron-deficient Sn isotopes

    International Nuclear Information System (INIS)

    The formation of neutron deficient nuclei by heavy ion reactions is investigated. The experimental technique is presented, and the results obtained concerning Sn et In isotopes reported: first excited states of 106Sn, high spin states in 107Sn and 107In; Yrast levels of 106Sn, 107Sn, 108Sn; study of neutron deficient Sn and In isotopes formed by the desintegration of the compound nucleus 112Xe. All these results are discussed

  14. 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 ...

  15. Vitamin D Deficiency: Time for Inaction?

    OpenAIRE

    Plotnikoff, Gregory

    2013-01-01

    In 1998, the British Medical Journal boldly stated in an editorial headline, “Vitamin D Deficiency: Time for Action.” 1 The urgency was clear: vitamin D deficiency was going undiagnosed and untreated in large numbers of people. Patients were at risk and suffering needlessly. A simple, extremely low-cost, low-toxicity intervention was readily available. All that was required was vitamin D advocacy.

  16. Pregnant phenotype in aquaporin 8-deficient mice

    Institute of Scientific and Technical Information of China (English)

    Xiao-yan SHA; Zheng-fang XIONG; Hui-shu LIU; Zheng ZHENG; Tong-hui MA

    2011-01-01

    Aim: Aquaporin 8 (AQP8) is expressed within the female reproductive system but its physiological function reminds to be elucidated.This study investigates the role of AQP8 during pregnancy using AQP8-knockout (AQP8-KO) mice.Methods: Homozygous AQP8-KO mice were mated, and the conception rate was recorded. AQP8-KO pregnant mice or their offspring were divided into 5 subgroups according to fetal gestational day (7, 13, 16, 18 GD) and newborn. Wild type C57 pregnant mice served as the control group. The number of pregnant mice, total embryos and atrophic embryos, as well as fetal weight, placental weight and placental area were recorded for each subgroup. The amount of amniotic fluid in each sac at 13, 16, and 18 GD was calculated. Statistical significance was determined by analysis of variance of factorial design and chi-square tests.Results: Conception rates did not differ significantly between AQP8-KO and wild type mice. AQP8-KO pregnant mice had a significantly higher number of embryos compared to wild type controls. Fetal/neonatal weight was also significantly greater in the AQP8-KO group compared to age-matched wild type controls. The amount of amniotic fluid was greater in AQP8-KO pregnant mice than wild type controis, although the FM/AFA (fetal weight/amniotic fluid amount) did not differ. While AQP8-KO placental weight was significantly larger than wild type controls, there was no evidence of placental pathology in either group.Conclusion: The results suggest that AQP8 deficiency plays an important role in pregnancy outcome.

  17. Pregnant phenotype in aquaporin 8-deficient mice

    Science.gov (United States)

    Sha, Xiao-yan; Xiong, Zheng-fang; Liu, Hui-shu; Zheng, Zheng; Ma, Tong-hui

    2011-01-01

    Aim: Aquaporin 8 (AQP8) is expressed within the female reproductive system but its physiological function reminds to be elucidated. This study investigates the role of AQP8 during pregnancy using AQP8-knockout (AQP8-KO) mice. Methods: Homozygous AQP8-KO mice were mated, and the conception rate was recorded. AQP8-KO pregnant mice or their offspring were divided into 5 subgroups according to fetal gestational day (7, 13, 16, 18 GD) and newborn. Wild type C57 pregnant mice served as the control group. The number of pregnant mice, total embryos and atrophic embryos, as well as fetal weight, placental weight and placental area were recorded for each subgroup. The amount of amniotic fluid in each sac at 13, 16, and 18 GD was calculated. Statistical significance was determined by analysis of variance of factorial design and chi-square tests. Results: Conception rates did not differ significantly between AQP8-KO and wild type mice. AQP8-KO pregnant mice had a significantly higher number of embryos compared to wild type controls. Fetal/neonatal weight was also significantly greater in the AQP8-KO group compared to age-matched wild type controls. The amount of amniotic fluid was greater in AQP8-KO pregnant mice than wild type controls, although the FM/AFA (fetal weight/amniotic fluid amount) did not differ. While AQP8-KO placental weight was significantly larger than wild type controls, there was no evidence of placental pathology in either group. Conclusion: The results suggest that AQP8 deficiency plays an important role in pregnancy outcome. PMID:21602842

  18. [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.

  19. Deficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism

    Directory of Open Access Journals (Sweden)

    Mitić Gorana

    2009-01-01

    Full Text Available Inherited thrombophilia can be defined as a predisposition to thrombosis caused by heritable defects, such as mutations in genes encoding the natural anticoagulants or clotting factors. Pregnancy related risk of VTE is sixfold increased comparing to non pregnant age matched women. Pregnancy is an independent risk factor for the development of venous thromboembolism and this risk is further increased by the presence of thrombophilia. Aim of the study: The aim of the study was to evaluate the association between deficiency of natural anticoagulants: antithrombin, protein C and protein S and pregnancy related thromboembolism. We have determined the activities of antithrombin, proten C and protein S in 74 women with pregnancy related thrombosis and in 45 healthy women who had at least two uncomplicated pregnancies. Among the women with the history of venous thromboembolism antithrombin deficiency was found in 4 (5.4%, protein C deficiency in 2 (2.7% and protein S deficiency in 5 (6.76%. The total of 11 (14.6% women was found to be deficient. Not a single woman in the control group was found to be deficient in natural anticoagulants. Deficiencies of coagulation inhibitors are associated with an increased risk of venous thrombosis during pregnancy and puerperium (p= 0.006. Antithrombin, protein C and protein S deficient women are at higher risk of developing venous thromboembolism during antepartal period (p= 0.0097. Prophylactic treatment with heparin should be recommended from the very beginning of the following pregnancy in women with antithrombin, protein C or protein S deficiency.

  20. Sustained beta-cell dysfunction but normalized islet mass in aged thrombospondin-1 deficient mice.

    Directory of Open Access Journals (Sweden)

    Carl Johan Drott

    Full Text Available Pancreatic islet endothelial cells have in recent years been shown to support beta-cell mass and function by paracrine interactions. Recently, we identified an islets endothelial-specific glycoprotein, thrombospondin-1 (TSP-1, that showed to be of importance for islet angiogenesis and beta-cell function in young mice. The present study aimed to investigate long-term consequences for islet morphology and beta-cell function of TSP-1 deficiency. Islet and beta-cell mass were observed increased at 10-12 weeks of age in TSP-1 deficient mice, but were normalized before 16 weeks of age when compared to wild-type controls. Islet vascularity was normal in 10-12 and 16-week-old TSP-1 deficient animals, whereas islets of one-year-old animals lacking TSP-1 were hypervascular. Beta-cell dysfunction in TSP-1 deficient animals was present at similar magnitudes between 10-12 and 52 weeks of age, as evaluated by glucose tolerance tests. The insulin secretion capacity in vivo of islets in one-year-old TSP-1 deficient animals was only ∼15% of that in wild-type animals. Using a transplantation model, we reconstituted TSP-1 in adult TSP-deficient islets. In contrast to neonatal TSP-1 deficient islets that we previously reported to regain function after TSP-1 reconstitution, adult islets failed to recover. We conclude that TSP-1 deficiency in islets causes changing vascular and endocrine morphological alterations postnatally, but is coupled to a chronic beta-cell dysfunction. The beta-cell dysfunction induced by TSP-1 deficiency is irreversible if not substituted early in life.

  1. Bach1 Deficiency and Accompanying Overexpression of Heme Oxygenase-1 Do Not Influence Aging or Tumorigenesis in Mice

    Directory of Open Access Journals (Sweden)

    Kazushige Ota

    2014-01-01

    Full Text Available Oxidative stress contributes to both aging and tumorigenesis. The transcription factor Bach1, a regulator of oxidative stress response, augments oxidative stress by repressing the expression of heme oxygenase-1 (HO-1 gene (Hmox1 and suppresses oxidative stress-induced cellular senescence by restricting the p53 transcriptional activity. Here we investigated the lifelong effects of Bach1 deficiency on mice. Bach1-deficient mice showed longevity similar to wild-type mice. Although HO-1 was upregulated in the cells of Bach1-deficient animals, the levels of ROS in Bach1-deficient HSCs were comparable to those in wild-type cells. Bach1−/−; p53−/− mice succumbed to spontaneous cancers as frequently as p53-deficient mice. Bach1 deficiency significantly altered transcriptome in the liver of the young mice, which surprisingly became similar to that of wild-type mice during the course of aging. The transcriptome adaptation to Bach1 deficiency may reflect how oxidative stress response is tuned upon genetic and environmental perturbations. We concluded that Bach1 deficiency and accompanying overexpression of HO-1 did not influence aging or p53 deficiency-driven tumorigenesis. Our results suggest that it is useful to target Bach1 for acute injury responses without inducing any apparent deteriorative effect.

  2. ANGPTL4 deficiency in haematopoietic cells promotes monocyte expansion and atherosclerosis progression

    Science.gov (United States)

    Aryal, Binod; Rotllan, Noemi; Araldi, Elisa; Ramírez, Cristina M.; He, Shun; Chousterman, Benjamin G.; Fenn, Ashley M.; Wanschel, Amarylis; Madrigal-Matute, Julio; Warrier, Nikhil; Martín-Ventura, Jose L.; Swirski, Filip K.; Suárez, Yajaira; Fernández-Hernando, Carlos

    2016-07-01

    Lipid accumulation in macrophages has profound effects on macrophage gene expression and contributes to the development of atherosclerosis. Here, we report that angiopoietin-like protein 4 (ANGPTL4) is the most highly upregulated gene in foamy macrophages and it's absence in haematopoietic cells results in larger atherosclerotic plaques, characterized by bigger necrotic core areas and increased macrophage apoptosis. Furthermore, hyperlipidemic mice deficient in haematopoietic ANGPTL4 have higher blood leukocyte counts, which is associated with an increase in the common myeloid progenitor (CMP) population. ANGPTL4-deficient CMPs have higher lipid raft content, are more proliferative and less apoptotic compared with the wild-type (WT) CMPs. Finally, we observe that ANGPTL4 deficiency in macrophages promotes foam cell formation by enhancing CD36 expression and reducing ABCA1 localization in the cell surface. Altogether, these findings demonstrate that haematopoietic ANGPTL4 deficiency increases atherogenesis through regulating myeloid progenitor cell expansion and differentiation, foam cell formation and vascular inflammation.

  3. Multispectral colour analysis for quantitative evaluation of pseudoisochromatic color deficiency tests

    Science.gov (United States)

    Ozolinsh, Maris; Fomins, Sergejs

    2010-11-01

    Multispectral color analysis was used for spectral scanning of Ishihara and Rabkin color deficiency test book images. It was done using tunable liquid-crystal LC filters built in the Nuance II analyzer. Multispectral analysis keeps both, information on spatial content of tests and on spectral content. Images were taken in the range of 420-720nm with a 10nm step. We calculated retina neural activity charts taking into account cone sensitivity functions, and processed charts in order to find the visibility of latent symbols in color deficiency plates using cross-correlation technique. In such way the quantitative measure is found for each of diagnostics plate for three different color deficiency carrier types - protanopes, deutanopes and tritanopes. Multispectral color analysis allows to determine the CIE xyz color coordinates of pseudoisochromatic plate design elements and to perform statistical analysis of these data to compare the color quality of available color deficiency test books.

  4. Isolated Vitamin D Deficiency Is Not Associated with Nonthyroidal Illness Syndrome, but with Thyroid Autoimmunity

    Directory of Open Access Journals (Sweden)

    Muyesser Sayki Arslan

    2015-01-01

    Full Text Available Aim. This study aimed to compare thyroid functions, thyroid autoantibodies, and the existence of nonthyroidal illness syndrome (NTIS according to vitamin D level. Materials and Methods. The study included age- and BMI-matched healthy volunteers with and without vitamin D deficiency. In addition, the nonthyroidal illness syndrome status was evaluated. Results. Anti-TPO positivity was significantly more common in those with severe and moderate vitamin D deficiency, as compared to those with a normal 25(OHD level. Furthermore, TSH levels were significantly lower in those with severe and moderate vitamin D deficiency than in those with a normal 25(OHD level. In addition, there was a significant weak inverse correlation between anti-TPO positivity and the 25(OHD level and a positive correlation between the TSH level and 25(OHD level. Only 1 thyroid function test result was compatible with NTIS among the participants with moderate vitamin D deficiency; therefore the difference was not significant. Conclusions. The prevalence of thyroid autoantibody positivity was higher in those with severe and moderate vitamin D deficiency than in those with a normal 25(OHD level. Additional large-scale studies must be conducted to determine if vitamin D deficiency plays a causal role in the pathogenesis of Hashimoto’s thyroiditis and NTIS.

  5. Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells

    Energy Technology Data Exchange (ETDEWEB)

    Lefevre, Sophie [Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Universite Paris-Diderot, Sorbonne Paris Cite, 15 rue Helene Brion, 75205 Paris cedex 13 (France); ED515 UPMC, 4 place Jussieu 75005 Paris (France); Sliwa, Dominika [Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Universite Paris-Diderot, Sorbonne Paris Cite, 15 rue Helene Brion, 75205 Paris cedex 13 (France); Rustin, Pierre [Inserm, U676, Physiopathology and Therapy of Mitochondrial Disease Laboratory, 75019 Paris (France); Universite Paris-Diderot, Faculte de Medecine Denis Diderot, IFR02 Paris (France); Camadro, Jean-Michel [Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Universite Paris-Diderot, Sorbonne Paris Cite, 15 rue Helene Brion, 75205 Paris cedex 13 (France); Santos, Renata, E-mail: santos.renata@ijm.univ-paris-diderot.fr [Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Universite Paris-Diderot, Sorbonne Paris Cite, 15 rue Helene Brion, 75205 Paris cedex 13 (France)

    2012-02-10

    Highlights: Black-Right-Pointing-Pointer Yeast frataxin-deficiency leads to increased proportion of fragmented mitochondria. Black-Right-Pointing-Pointer Oxidative stress induces complete mitochondrial fragmentation in {Delta}yfh1 cells. Black-Right-Pointing-Pointer Oxidative stress increases mitochondrial fragmentation in patient fibroblasts. Black-Right-Pointing-Pointer Inhibition of mitochondrial fission in {Delta}yfh1 induces oxidative stress resistance. -- Abstract: Friedreich ataxia (FA) is the most common recessive neurodegenerative disease. It is caused by deficiency in mitochondrial frataxin, which participates in iron-sulfur cluster assembly. Yeast cells lacking frataxin ({Delta}yfh1 mutant) showed an increased proportion of fragmented mitochondria compared to wild-type. In addition, oxidative stress induced complete fragmentation of mitochondria in {Delta}yfh1 cells. Genetically controlled inhibition of mitochondrial fission in these cells led to increased resistance to oxidative stress. Here we present evidence that in yeast frataxin-deficiency interferes with mitochondrial dynamics, which might therefore be relevant for the pathophysiology of FA.

  6. ACQUIRED COLOR VISION DEFICIENCY IN PARKINSON’S DISEASE

    Directory of Open Access Journals (Sweden)

    S.A. Tabassi

    2003-07-01

    Full Text Available Acquired color deficiency in the tritan axis in Parkinson’s disease has already been reported, manifesting itself as impaired performance in various visual tasks. However, its clinical significance has always been controversial. In this study we evaluated the performance of Parkinson s disease patients in Lanthony 15-desaturated clinical test and for the first time, compared it with the standard Farnsworth-Munsell 15-dichotomous test, in order to determine the clinical value of the color vision deficiency in these shorter tests and their relationship with other factors such as age, duration and severity of the disease, and the presence of signs and symptoms of depression and hallucinations. This blind case-control study was performed on 39 definitely diagnosed patients (of which 14 patients were excluded because of confounding variables and 25 sex and age-adjusted controls in a neurologic referral center. The subjects were selected by consecutive sampling. Eleven patients in Farnsworth-Munsell and 3 patients in Lanthony showed normal function, however, overall patients had significantly weaker performance than controls (P-value=0.003 and 0.000 for FM and Lanthony respectively. The pattern of responses in Lanthony was consistent with a mild tritanomalia and had a significant correlation with the severity of motor signs and symptoms (Spearman coefficient=0.44, P-value=0.027. The weaker correlation of color deficiency with age in patients (Spearman coefficient=0.42 in comparison with controls (Spearman coefficient=0.60 also signifies the role of the pathophysiology of the disease. We concluded that color deficiency is a clinically significant visual dysfunction in patients with Parkinson s disease.

  7. Intestinal Irradiation and Fibrosis in a Th1-Deficient Environment

    Energy Technology Data Exchange (ETDEWEB)

    Linard, Christine, E-mail: christine.linard@irsn.fr [Institut de Radioprotection et de Surete Nucleaire, Fontenay-aux-Roses (France); Billiard, Fabienne; Benderitter, Marc [Institut de Radioprotection et de Surete Nucleaire, Fontenay-aux-Roses (France)

    2012-09-01

    Purpose: Changes in the Th1/Th2 immune balance may play a role in increasing the incidence of radiation-induced toxicity. This study evaluates the consequences of Th1 deficiency on intestinal response (fibrosis and T cell trafficking) to abdominal irradiation and examines in mucosa and mesenteric lymph nodes (MLN) the differential involvement of the two Th1 pathways, T-bet/STAT1 and IL-12/STAT4, in controlling this balance in mice. Methods and Materials: Using T-bet-deficient mice (T-bet{sup -/-}), we evaluated the mRNA and protein expression of the Th1 pathways (IFN-{gamma}, T-bet/STAT1, and IL-12/STAT4) and the CD4{sup +} and CD8{sup +} populations in ileal mucosa and MLN during the first 3 months after 10 Gy abdominal irradiation. Results: The T-bet-deficient mice showed an increased fibrotic response to radiation, characterized by higher TGF-{beta}1, col3a1 expression, and collagen deposition in mucosa compared with wild-type mice. This response was associated with drastically lower expression of IFN-{gamma}, the hallmark Th1 cytokine. Analysis of the Th1 expression pathways, T-bet/STAT1 and IL-12/STAT4, showed their equal involvement in the failure of Th1 polarization. A minimal IFN-{gamma} level depended on the IL-23-p19/STAT4 level. In addition, the radiation-induced deficiency in the priming of Th1 by IFN-{gamma} was related to the defective homing capacity of CD8{sup +} cells in the mucosa. Conclusion: Irradiation induces Th2 polarization, and the Th2 immune response may play a role in potentiating irradiation-induced intestinal collagen deposition.

  8. Adaptive gene regulation in the Striatum of RGS9-deficient mice.

    Directory of Open Access Journals (Sweden)

    Kathy Busse

    Full Text Available BACKGROUND: RGS9-deficient mice show drug-induced dyskinesia but normal locomotor activity under unchallenged conditions. RESULTS: Genes related to Ca2+ signaling and their functions were regulated in RGS9-deficient mice. CONCLUSION: Changes in Ca2+ signaling that compensate for RGS9 loss-of-function can explain the normal locomotor activity in RGS9-deficient mice under unchallenged conditions. SIGNIFICANCE: Identified signaling components may represent novel targets in antidyskinetic therapy. The long splice variant of the regulator of G-protein signaling 9 (RGS9-2 is enriched in striatal medium spiny neurons and dampens dopamine D2 receptor signaling. Lack of RGS9-2 can promote while its overexpression prevents drug-induced dyskinesia. Other animal models of drug-induced dyskinesia rather pointed towards overactivity of dopamine receptor-mediated signaling. To evaluate changes in signaling pathways mRNA expression levels were determined and compared in wild-type and RGS9-deficient mice. Unexpectedly, expression levels of dopamine receptors were unchanged in RGS9-deficient mice, while several genes related to Ca2+ signaling and long-term depression were differentially expressed when compared to wild type animals. Detailed investigations at the protein level revealed hyperphosphorylation of DARPP32 at Thr34 and of ERK1/2 in striata of RGS9-deficient mice. Whole cell patch clamp recordings showed that spontaneous synaptic events are increased (frequency and size in RGS9-deficient mice while long-term depression is reduced in acute brain slices. These changes are compatible with a Ca2+-induced potentiation of dopamine receptor signaling which may contribute to the drug-induced dyskinesia in RGS9-deficient mice.

  9. Survey of the Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD Deficiency in Admitted Men for Premarriage Tests in Zahedan-Iran Reference Laboratory

    Directory of Open Access Journals (Sweden)

    Nakhaee Ali Reza

    2009-09-01

    Full Text Available Background: GLucose-6-phosphate dehydrogenase (G6PD deficiency is the most common known enzymopathy in human. G6PD deficiency is usually asymptomatic, however, deficient individuals are at increased risk of developing acute hemolytic anemia and hyperbilirubinemia following intake of oxidative agents and fava. The objective of present study was to detect prevalence of G6PD deficiency in admitted males for premarriage tests in Zahedan Reference Laboratory. Also, we compared blood indices of normal and G6PD deficient individuals.Materials and Methods: This descriptive study was carried out on 1340 admitted males in Zahedan Reference Laboratory from February 2008 to March 2009. G6PD activity was determined in EDTA containing blood samples by qualitative fluorescence spot test, then G6PD deficiency was confirmed by quantitative spectrophotometric method. Total leukocyte count and RBC indices of G6PD deficient samples and the same number of normal samples were compared. The differences between two groups were compared using Sigmaplot software and t-Student test. A P-value less than 0.05 was considered statistically significant.Results: G6PD deficiency was found in 84 individuals of total 1340 by fluorescence spot test and confirmed in 79 by quantitative method. Therefore, prevalence of G6PD deficiency in Zahedan was estimated to be 5.9%. Comparison of deficient and normal individuals did not show significant difference in WBC count, RBC count, hemoglobin concentration, hematocrit, mean corpuscular hemoglobin (MCH and RDW-SD. However, mean corpuscular volume (MCV was significantly high and mean corpuscular hemoglobin concentration (MCHC and RDW-CV were significantly low in G6PD deficient individuals compared to those with normal enzyme level.Discussion: Present study revealed that the prevalence of G6PD deficiency in Zahedan is 5.9%. Severity of G6PD deficiency in quantitative assay indicated that class I and II are probably dominant variants in

  10. 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

  11. Hospital Compare

    Data.gov (United States)

    U.S. Department of Health & Human Services — Hospital Compare has information about the quality of care at over 4,000 Medicare-certified hospitals across the country. You can use Hospital Compare to find...

  12. [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. PMID:26813501

  13. [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.

  14. 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...

  15. 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

  16. 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.

  17. 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

    During healing of incisional skin wounds, migrating keratinocytes dissect their way under the crust to re-epithelialize the wounded area. The efficiency of this tissue remodelling process depends on the concomitant activity of several extracellular proteases, including members of the plasminogen...... activation (PA) system and the matrix metalloproteinase (MMP) family. Treatment with the broad spectrum MMP inhibitor, galardin, delays wound healing in wildtype mice and completely arrest wound healing in plasminogen (Plg)-deficient mice, indicating a functional overlap between plasmin- and galardin......-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...

  18. Kinetics and thermodynamics of exonuclease-deficient DNA polymerases

    Science.gov (United States)

    Gaspard, Pierre

    2016-04-01

    A kinetic theory is developed for exonuclease-deficient DNA polymerases, based on the experimental observation that the rates depend not only on the newly incorporated nucleotide, but also on the previous one, leading to the growth of Markovian DNA sequences from a Bernoullian template. The dependencies on nucleotide concentrations and template sequence are explicitly taken into account. In this framework, the kinetic and thermodynamic properties of DNA replication, in particular, the mean growth velocity, the error probability, and the entropy production are calculated analytically in terms of the rate constants and the concentrations. Theory is compared with numerical simulations for the DNA polymerases of T7 viruses and human mitochondria.

  19. Adult growth hormone (GH)-deficient patients demonstrate heterogeneity between childhood onset and adult onset before and during human GH treatment. Adult Growth Hormone Deficiency Study Group

    DEFF Research Database (Denmark)

    Attanasio, A F; Lamberts, S W; Matranga, A M;

    1997-01-01

    The onset of adult GH deficiency may be during either adulthood (AO) or childhood (CO), but potential differences have not previously been examined. In this study the baseline and GH therapy (12.5 micrograms/kg per day) data from CO (n = 74; mean age 29 yr) and AO (n = 99; mean age 44 yr) GH......-deficient adult patients have been compared. The first 6 months comprised randomized, double-blind treatment with GH or placebo, then all patients were GH-treated for a further 12 months. At baseline the height, body weight, body mass index, lean body mass, and waist/hip ratio of AO patients were significantly (P...

  20. 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

  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. PMID:26433309

  2. 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.

  3. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

    Science.gov (United States)

    Atwal, Paldeep S; Donti, Taraka R; Cardon, Aaron L; Bacino, C A; Sun, Qin; Emrick, L; Reid Sutton, V; Elsea, Sarah H

    2015-01-01

    Aromatic L-amino acid decarboxylase (AADC) deficiency is an inborn error of metabolism affecting the biosynthesis of serotonin, dopamine, and catecholamines. We report a case of AADC deficiency that was detected using the Global MAPS platform. This is a novel platform that allows for parallel clinical testing of hundreds of metabolites in a single plasma specimen. It uses a state-of-the-art mass spectrometry platform, and the resulting spectra are compared against a library of ~2500 metabolites. Our patient is now a 4 year old boy initially seen at 11 months of age for developmental delay and hypotonia. Multiple tests had not yielded a diagnosis until exome sequencing revealed compound heterozygous variants of uncertain significance (VUS), c.286G>A (p.G96R) and c.260C>T (p.P87L) in the DDC gene, causal for AADC deficiency. CSF neurotransmitter analysis confirmed the diagnosis with elevated 3-methoxytyrosine (3-O-methyldopa). Metabolomic profiling was performed on plasma and revealed marked elevation in 3-methoxytyrosine (Z-score +6.1) consistent with the diagnosis of AADC deficiency. These results demonstrate that the Global MAPS platform is able to diagnose AADC deficiency from plasma. In summary, we report a novel and less invasive approach to diagnose AADC deficiency using plasma metabolomic profiling.

  4. Vitamin A deficiency causes oxidative damage to liver mitochondria in rats.

    Science.gov (United States)

    Barber, T; Borrás, E; Torres, L; García, C; Cabezuelo, F; Lloret, A; Pallardó, F V; Viña, J R

    2000-07-01

    Mitochondrial damage in rat liver induced by chronic vitamin A-deficiency was studied using three different groups of rats: (i) control rats, (ii) rats fed a vitamin A-free diet until 50 d after birth and (iii) vitamin A-deficient rats re-fed a control diet for 30 d. No statistical difference in body weight and food intake was found between control and vitamin A-deficient rats. Liver GSH concentration was similar in both groups. However, in vitamin A-deficient rats, the mitochondrial GSH/GSSG ratio was significantly lower and the levels of malondialdehyde (MDA) and 8-oxo-7, 8-dihydro-2'-deoxyguanosine (oxo8dG) were higher when compared to control rats. These values were partially restored in re-fed rats. The mitochondrial membrane potential of vitamin A-deficient rats was significantly lower than in control rats and returned to normal levels in restored vitamin A rats. Two populations of mitochondria were found in vitamin A-deficient rats according to the composition of membrane lipids. One population showed a similar pattern to the control mitochondria and the second population had a higher membrane lipid content. This report emphasizes the protective role of vitamin A in liver mitochondria under physiological circumstances.

  5. Biotin deficiency in the cat and the effect on hepatic propionyl CoA carboxylase.

    Science.gov (United States)

    Carey, C J; Morris, J G

    1977-02-01

    Biotin deficiency was produced in growing kittens by feeding a diet containing dried, raw egg white. After receiving either an 18.5% egg white diet for 25 weeks, or a 32% egg white diet for 12 weeks, they exhibited dermal lesions characterized by alopecia, scaly dermatitis and achromotrichia, which increased in severity with the deficiency. Females developed accumulations of dried salivary, nasal and lacrymal secretions in the facial region although a male did not. There was a loss of body weight in all cats as the deficiency progressed. Hepatic propionyl CoA carboxylase activities were measured on biopsy samples of liver during biotin deficiency and after biotin supplementation. In the deficient state, activities were 4% and 24% of that following biotin supplementation. Propionyl carboxylase activity in the liver of the cat was comparable to that reported in the rat and chick in the deficient and normal states. Subcutaneous injection of 0.25 mg biotin every other day while continuing to receive the egg white diet caused remission of clinical signs, a body weight gain and increased food intake.

  6. STUDY OF PREVALENCE OF IRON DEFICIENCY OF ANEMIA IN SCHOOL GOING CHILDREN IN RURAL INDIA

    Directory of Open Access Journals (Sweden)

    Vidya P.

    2014-02-01

    Full Text Available Micro nutritional deficiencies are common in developing countries like India. Nutritional deficiency anemia is more prevalent in children and young adolescent male and females. The objective of present study was to determine the prevalence of Iron deficiency anemia in children age group 8 – 12 years in our locality. AIM: to estimate the prevalence of IDA in Bhojapur, Taluka Sinnar of Maharashtra. METHODS: this Cross Sectional study was conducted in school going children of Bhojapur, Taluka Sinnar of Maharashtra, age group 8 – 12 year boys and girls. Hemoglobin, Serum Ferritin, Total Iron Binding Capacity [TIBC] and Transferrin levels were analyzed. RESULTS: 185 males and 174 female school going children were examined, IDA was prevalent in 58.9% of males and 63.2 % in females, there was significant decrease in parameters of Hemoglobin, Serum Ferritin and Transferrin saturation and increase in Total Iron Binding Capacity in this group of population indicating prevalence of the Iron deficiency. CONCLUSIONS: within limitations of the present study it was found that Iron deficiency anemia was common in children in rural India. IDA was slightly more prevalent in girls of the same age group as compared to boys. Lower socioeconomic status was linked with decreased Hemoglobin levels probably due to nutritional deficiencies. This calls for a comprehensive micro nutritional policy in addition to food security to address the problem.

  7. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

    Science.gov (United States)

    Atwal, Paldeep S; Donti, Taraka R; Cardon, Aaron L; Bacino, C A; Sun, Qin; Emrick, L; Reid Sutton, V; Elsea, Sarah H

    2015-01-01

    Aromatic L-amino acid decarboxylase (AADC) deficiency is an inborn error of metabolism affecting the biosynthesis of serotonin, dopamine, and catecholamines. We report a case of AADC deficiency that was detected using the Global MAPS platform. This is a novel platform that allows for parallel clinical testing of hundreds of metabolites in a single plasma specimen. It uses a state-of-the-art mass spectrometry platform, and the resulting spectra are compared against a library of ~2500 metabolites. Our patient is now a 4 year old boy initially seen at 11 months of age for developmental delay and hypotonia. Multiple tests had not yielded a diagnosis until exome sequencing revealed compound heterozygous variants of uncertain significance (VUS), c.286G>A (p.G96R) and c.260C>T (p.P87L) in the DDC gene, causal for AADC deficiency. CSF neurotransmitter analysis confirmed the diagnosis with elevated 3-methoxytyrosine (3-O-methyldopa). Metabolomic profiling was performed on plasma and revealed marked elevation in 3-methoxytyrosine (Z-score +6.1) consistent with the diagnosis of AADC deficiency. These results demonstrate that the Global MAPS platform is able to diagnose AADC deficiency from plasma. In summary, we report a novel and less invasive approach to diagnose AADC deficiency using plasma metabolomic profiling. PMID:25956449

  8. Effect of polaprezinc on taste disorders in zinc-deficient rats.

    Science.gov (United States)

    Hamano, Hiroki; Yoshinaga, Koji; Eta, Runa; Emori, Yutaka; Kawasaki, Daisuke; Iino, Yuka; Sawada, Miwa; Kuroda, Hiroyuki; Takei, Mineo

    2006-01-01

    The effect of polaprezinc, a chelate compound consisting of zinc ion and L-carnosine, on abnormalities of taste sensation induced by feeding a zinc-deficient diet to rats was examined by using the two-bottle preference test (quinine hydrochloride as a bitter taste and sodium chloride as a salty taste). Rats were fed either a zinc-deficient or a zinc-sufficient diet. The zinc-deficient diet increased the preference for both taste solutions, while polaprezinc (at doses of 3 and 10 mg/kg) restored the altered taste preferences. We also evaluated the proliferation of taste bud cells using 5-bromo-2'-deoxyuridine (BrdU). The BrdU incorporation into taste bud cells was significantly reduced in rats fed a zinc-deficient diet compared with rats fed a zinc-sufficient diet (from 50.8% to 45.0%, pzinc deficiency induces the delayed of proliferation of taste bud cells, while polaprezinc improves cell proliferation. In conclusion, polaprezinc had a therapeutic effect in a rat model of abnormal taste sensation. Its mechanism of action was suggested to involve improvement of the decrease in taste bud cell proliferation caused by zinc deficiency. PMID:17473379

  9. Is vitamin B12 deficiency a risk factor for cardiovascular disease in vegetarians?

    Science.gov (United States)

    Pawlak, Roman

    2015-06-01

    The goal of this paper is to describe the role of vitamin B12 deficiency in cardiovascular disease development among vegetarians. Vegetarians have a high prevalence of vitamin B12 deficiency. Deficiency of this vitamin is associated with a variety of atherogenic processes that are mainly, but not exclusively, due to vitamin B12 deficiency-induced hyperhomocysteinemia. Each 5-μmol/L increase above 10 μmol/L of serum homocysteine is associated with a 20% increased risk of circulatory health problems. Mean homocysteine concentration >10 μmol/L among vegetarians was reported in 32 of 34 reports. Macrocytosis associated with vitamin B12 deficiency is also associated with fatal and non-fatal coronary disease, myocardial infarction, stroke, and other circulatory health problems. Compared with non-vegetarians, vegetarians have an improved profile of the traditional cardiovascular disease risk factors, including serum lipids, blood pressure, serum glucose concentration, and weight status. However, not all studies that assessed cardiovascular disease incidence among vegetarians reported a protective effect. Among studies that did show a lower prevalence of circulatory health problems, the effect was not as pronounced as expected, which may be a result of poor vitamin B12 status due to a vegetarian diet. Vitamin B12 deficiency may negate the cardiovascular disease prevention benefits of vegetarian diets. In order to further reduce the risk of cardiovascular disease, vegetarians should be advised to use vitamin B12 supplements. PMID:25998928

  10. Chronic vitamin C deficiency does not accelerate oxidative stress in ageing brains of guinea pigs

    DEFF Research Database (Denmark)

    Tveden-Nyborg, Pernille; Andersen, Stine Hasselholt; Miyashita, Namiyo;

    2012-01-01

    , a lack of vitamin C could be associated with an increase in redox imbalance in the ageing brain. The present study compared oxidative stress of ageing to that of a long-term non-scorbutic vitamin C deficiency in guinea pigs. Adults (3-9 months old) were compared to old (36-42 months old) animals during...... a six-month dietary intervention by assessing vitamin C transport and redox homeostasis in the brain. In contrast to our hypothesis, chronic vitamin C deficiency did not affect the measured markers of oxidative stress in the brains of adult and aged animals. However, aged animals generally showed...

  11. 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.

  12. 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.

  13. Zinc deficiency and school-age children’s memories

    Directory of Open Access Journals (Sweden)

    Setianingsih, Djaswadi Dasuki, Indria Laksmi Gamayanti

    2015-09-01

    Full Text Available Zinc deficiency is associated with cognitive and motor delay in children. Moreover, it is associatedwith deficits in activity and attention in nutritional deficiency children. This study was conductedto evaluate the correlation between zinc deficiency with memory of children. A cross sectionalstudy design was employed from June 1st to 30th, 2013 among school-age children in KlatenDistrict, Central Java who met inclusion and exclusion criteria. Sixty five eligible children wereassessed their health, socio-economic and nutritional status. Hemoglobin levels were measuredby the standart cyanoblue method. Plasma zinc levels were analyzed with flame atomic absorptionspectrophotometry (AAS. Short-term memory (STM was measured using the instrument WechslerIntellegence Scale for Children (WISC0 subtest Digit Span Memory Test and long term memory(LTM was assessed using the recall of narrative. Independent t-test was used to compare theSTM or LTM between groups of each independent factors. Linear regression analysis was usedto determine the independent factors associated with the STM or LTM. The STM scores of thechildren with zinc deficiency (6.1 ± 1.3 was significantly higher than those with normal zinclevel (10.7 ± 3.1 [p=0.0004; 95%CI= -6.98 – (-2.14]. However, the LTM for both group ofthe children were not significantly different (p=0.658; 95%CI= -3.16 – 2.01. A significantcorrelations between zinc levels, hemoglobin level and socio-economic status with the STM scoreswere observed (p<0.05, whereas nutritional status was not (p>0.05. In contrast, no significantcorrelations between zinc levels, hemoglobin levels, socio-economic status, nutritional status andthe LTM scores was observed in the school age children (p>0.05. In conclusion, zinc deficiency isassociated with STM loss in the school age children, however it is not associated with LTM loss.Moreover, hemoglobin level and socio-economic status are found to be independent factors forSTM loss

  14. 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

  15. Serum thymulin in human zinc deficiency.

    OpenAIRE

    Prasad, A S; Meftah, S; J. Abdallah; Kaplan, J.; Brewer, G J; Bach, J F; Dardenne, M

    1988-01-01

    The activity of thymulin (a thymic hormone) is dependent on the presence of zinc in the molecule. We assayed serum thymulin activity in three models of mildly zinc-deficient (ZD) human subjects before and after zinc supplementation: (a) two human volunteers in whom a specific and mild zinc deficiency was induced by dietary means; (b) six mildly ZD adult sickle cell anemia (SCA) subjects; and (c) six mildly ZD adult non-SCA subjects. Their plasma zinc levels were normal and they showed no over...

  16. 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.

  17. 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

  18. Tumoral calcinosis with vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Kannan Subramanian

    2008-01-01

    Full Text Available A 50-year-old woman presented with recurrent calcified mass in the left gluteal region. The clinical, radiological, and biochemical profile confirmed the diagnosis of tumoral calcinosis. She also had associated vitamin D deficiency. The patient underwent surgical removal of the mass to relieve the sciatic nerve compression and was managed with acetazolamide, calcium carbonate, and aluminium hydroxide gel with which she showed significant improve-ment. The management implications and effect of vitamin D deficiency on phosphate metabolism in the setting of tumoral calcinosis is discussed.

  19. Circadian behaviour in neuroglobin deficient mice

    DEFF Research Database (Denmark)

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

    2012-01-01

    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......-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....

  20. 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....

  1. Effect of Phosphorus Deficiency on Leaf Photosynthesis and Carbohydrates Partitioning in Two Rice Genotypes with Contrasting Low Phosphorus Susceptibility

    Institute of Scientific and Technical Information of China (English)

    LI Yong-fu; LUO An-cheng; Muhammad Jaffar HASSAN; WEI Xing-hua

    2006-01-01

    To study the effect of phosphorus (P) deficiency on leaf photosynthesis and carbohydrates partitioning and to determine whether the characteristics of leaf photosynthesis and carbohydrates partitioning are related to iow P tolerance in rice plants, a hydroponic culture experiment supplied with either sufficient P (10 mg/L) or deficient P (0.5 mg/L) was conducted by using two rice genotypes different in their responses to low P stress. Results showed that the plant growth of Zhenongda 454 (low P tolerant genotype) was less affected by P deficiency compared with Sanyang'ai (low P sensitive genotype). Under P-deficient conditions,photosynthetic rates of Zhenongda 454 and Sanyang'ai were decreased by 16% and 35%, respectively, and Zhenongda 454 showed higher photosynthetic rate than Sanyang'ai. Phosphorus deficiency decreased the stomatal conductance for both genotypes, but had no significant influence on leaf internal CO2 concentration (Ci), suggesting that the decrease in leaf photosynthetic rate of rice plants induced by P deficiency was not due to stomatal limitation. Phosphorus deficiency increased the concentration of soluble carbohydrates and sucrose in shoots and roots for both genotypes, and also markedly increased the allocation of soluble carbohydrates and sucrose to roots. Under deficient P supply, Zhenongda 454 had higher root/shoot soluble carbohydrates content ratio and root/shoot sucrose content ratio than Sanyang'ai. In addition, phosphorus deficiency increased the concentration of starch in roots for both genotypes, whereas had no effect on the content of starch in shoots or roots. Compared to genotype Sanyang'ai, the better tolerance to low-P stress of Zhenongda 454 can be explained by the fact that Zhenongda 454 maintains a higher photosynthetic rate and a greater ability to allocate carbohydrates to the roots under P deficiency.

  2. Corneal wound healing is compromised by immunoproteasome deficiency.

    Directory of Open Access Journals (Sweden)

    Deborah A Ferrington

    Full Text Available Recent studies have revealed roles for immunoproteasome in regulating cell processes essential for maintaining homeostasis and in responding to stress and injury. The current study investigates how the absence of immunoproteasome affects the corneal epithelium under normal and stressed conditions by comparing corneas from wildtype (WT mice and those deficient in two immunoproteasome catalytic subunits (lmp7(-/-/mecl-1(-/-, L7M1. Immunoproteasome expression was confirmed in WT epithelial cells and in cells of the immune system that were present in the cornea. More apoptotic cells were found in both corneal explant cultures and uninjured corneas of L7M1 compared to WT mice. Following mechanical debridement, L7M1 corneas displayed delayed wound healing, including delayed re-epithelialization and re-establishment of the epithelial barrier, as well as altered inflammatory cytokine production compared to WT mice. These results suggest that immunoproteasome plays an important role in corneal homeostasis and wound healing.

  3. The Prevalence of Vitamin D Deficiency among Cancer Survivors in a Nationwide Survey of the Korean Population.

    Directory of Open Access Journals (Sweden)

    Myueng Guen Oh

    Full Text Available Recent studies have shown that inadequate vitamin D levels are associated with a poor cancer prognosis, but data regarding actual vitamin D levels in cancer survivors are limited. This study investigated the vitamin D levels and prevalence of vitamin D deficiency among Korean cancer survivors compared with non-cancer controls, and identified the factors associated with vitamin D deficiency.Using the Korea National Health and Nutrition Examination Survey (KNHANES, 915 cancer survivors and 29,694 controls without a history of cancer were selected. Serum 25(OHD levels were measured; vitamin D deficiency was defined as 25(OHD levels less than 20 ng/mL. Chi-square tests and multiple logistic regression analyses were used to evaluate the prevalence of vitamin D deficiency and associated factors.Vitamin D deficiency was observed in 62.7% of cancer survivors and 67.1% of controls. Among cancer survivors, vitamin D deficiency was most prevalent among 19-44 year olds (76.2% and among managers, professionals, and related workers (79.3%. Multiple logistic regression analysis revealed that younger cancer survivors and those who work indoors were predisposed to vitamin D deficiency.Vitamin D deficiency was prevalent among both cancer survivors and controls in Korea. The regular evaluation and management of vitamin D levels is needed for both bone health and general health in cancer survivors.

  4. 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…

  5. 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…

  6. 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...

  7. 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.

  8. 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.

  9. 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

  10. Sequential growth hormone deficiency and acromegaly.

    OpenAIRE

    Heffernan, A.

    1988-01-01

    This is the case of a patient with a pituitary tumour presenting initially with growth hormone deficiency and requiring treatment with human growth hormone. Eight years later he represented with acromegaly. This sequence of events has not to my knowledge been reported previously.

  11. 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…

  12. 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.

  13. 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

  14. Iron deficiency anaemia in Sri Lanka

    International Nuclear Information System (INIS)

    The commonest cause of nutritional anaemia in the Sri Lankan population is iron deficiency. The diets of the population belonging to the lower socio-economic groups contain little food of animal origin. Thus, their diets are deficient in easily absorbable (haem) iron; and are also heavily cereal-based. Therefore interference in the absorption of dietary iron also occurs. Iron-deficiency anaemia is not restricted to the so-called ''vulnerable groups'' in Sri Lanka, however, their greater demands make the problem not only commoner but also more severe. Among pregnant and lactating women anaemia is often associated with folate deficiency. It must also be noted that the low availability of dietary iron is compounded in large population groups. Malaria, presently raging on an epidemic scale is also a major contributory factor to the incidence of anaemia. The purpose of this study was to examine the iron status of pre-school children and pregnant women; to establish normal levels of biochemical indices at different trimesters; to record the effect of iron supplementation during pregnancy; and to record the bioavailability of iron from weaning foods and common adult diets. 6 figs, 14 tabs

  15. 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

  16. 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.

  17. Farber's disease (lysosomal acid ceramidase deficiency).

    OpenAIRE

    Jameson, R. A.; Holt, P.J.; Keen, J H

    1987-01-01

    The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.

  18. Patient reported outcome in posttraumatic pituitary deficiency

    DEFF Research Database (Denmark)

    Klose, Marianne; Stochholm, Kirstine; Janukonyté, Jurgita;

    2015-01-01

    with traumatic brain injury (TBI) in relation to deficiencies identified upon pituitary assessment. DESIGN AND METHODS: We conducted a nationwide population-based cohort study. Participants were Danish patients with a head trauma diagnosis recorded in the Danish Board of Health diagnostic code registry; 439...

  19. 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…

  20. Physician Compare

    Data.gov (United States)

    U.S. Department of Health & Human Services — Physician Compare, which meets Affordable Care Act of 2010 requirements, helps you search for and select physicians and other healthcare professionals enrolled in...

  1. comparative Advertising

    OpenAIRE

    Anderson, Simon P.; Régis Renault

    2006-01-01

    Consumer information on products affects competition and profits. We analyze firms' decisions to impart product information through advertising: comparative advertising also allows them to impart information about rivals' products. If firms sell products of similar qualities, both want to advertise detailed product information that enables consumers to determine their matches: there is no role for comparative advertising. If qualities are sufficiently dissimilar, the high-quality one will not...

  2. SLAP deficiency decreases dsDNA autoantibody production.

    Science.gov (United States)

    Peterson, Lisa K; Pennington, Luke F; Shaw, Laura A; Brown, Meredith; Treacy, Eric C; Friend, Samantha F; Hatlevik, Øyvind; Rubtsova, Kira; Rubtsov, Anatoly V; Dragone, Leonard L

    2014-02-01

    Src-like adaptor protein (SLAP) adapts c-Cbl, an E3 ubiquitin ligase, to activated components of the BCR signaling complex regulating BCR levels and signaling in developing B cells. Based on this function, we asked whether SLAP deficiency could decrease the threshold for tolerance and eliminate development of autoreactive B cells in two models of autoantibody production. First, we sensitized mice with a dsDNA mimetope that causes an anti-dsDNA response. Despite equivalent production of anti-peptide antibodies compared to BALB/c controls, SLAP(-/-) mice did not produce anti-dsDNA. Second, we used the 56R tolerance model. SLAP(-/-) 56R mice had decreased levels of dsDNA-reactive antibodies compared to 56R mice due to skewed light chain usage. Thus, SLAP is a critical regulator of B-cell development and function and its deficiency leads to decreased autoreactive B cells that are otherwise maintained by inefficient receptor editing or failed negative selection.

  3. Skeletal Characterization of Smurf2-Deficient Mice and In Vitro Analysis of Smurf2-Deficient Chondrocytes.

    Science.gov (United States)

    Huang, Henry; Veien, Eric S; Zhang, Hong; Ayers, David C; Song, Jie

    2016-01-01

    Overexpression of Smad ubiquitin regulatory factor 2 (Smurf2) in chondrocytes was reported to cause spontaneous osteoarthritis (OA) in mice. However, it is unclear whether Smurf2 is involved in bone and cartilage homeostasis and if it is required for OA pathogenesis. Here we characterized age-related changes in the bone and articular cartilage of Smurf2-deficient (MT) mice by microCT and histology, and examined whether reduced Smurf2 expression affected the severity of OA upon surgical destabilization of the medial meniscus (DMM). Using immature articular chondrocytes (iMAC) from MT and wild-type (WT) mice, we also examined how Smurf2 deficiency affects chondrogenic and catabolic gene expressions and Smurf2 and Smurf1 proteins upon TGF-β3 or IL-1β treatment in culture. We found no differences in cortical, subchondral and trabecular bone between WT and MT in young (4 months) and old mice (16-24 months). The articular cartilage and age-related alterations between WT and MT were also similar. However, 2 months following DMM, young MT showed milder OA compared to WT (~70% vs ~30% normal or exhibiting only mild OA cartilage phenotype). The majority of the older WT and MT mice developed moderate/severe OA 2 months after DMM, but a higher subset of aged MT cartilage (27% vs. 9% WT) remained largely normal. Chondrogenic gene expression (Sox9, Col2, Acan) trended higher in MT iMACs than WT with/without TGF-β3 treatment. IL-1β treatment suppressed chondrgenic gene expression, but Sox9 expression in MT remained significantly higher than WT. Smurf2 protein in WT iMACs increased upon TGF-β3 treatment and decreased upon IL-1β treatment in a dose-dependent manner. Smurf1 protein elevated more in MT than WT upon TGF-β3 treatment, suggesting a potential, but very mild compensatory effect. Overall, our data support a role of Smurf2 in regulating OA development but suggest that inhibiting Smurf2 alone may not be sufficient to prevent or consistently mitigate post-traumatic OA

  4. Skeletal Characterization of Smurf2-Deficient Mice and In Vitro Analysis of Smurf2-Deficient Chondrocytes.

    Directory of Open Access Journals (Sweden)

    Henry Huang

    Full Text Available Overexpression of Smad ubiquitin regulatory factor 2 (Smurf2 in chondrocytes was reported to cause spontaneous osteoarthritis (OA in mice. However, it is unclear whether Smurf2 is involved in bone and cartilage homeostasis and if it is required for OA pathogenesis. Here we characterized age-related changes in the bone and articular cartilage of Smurf2-deficient (MT mice by microCT and histology, and examined whether reduced Smurf2 expression affected the severity of OA upon surgical destabilization of the medial meniscus (DMM. Using immature articular chondrocytes (iMAC from MT and wild-type (WT mice, we also examined how Smurf2 deficiency affects chondrogenic and catabolic gene expressions and Smurf2 and Smurf1 proteins upon TGF-β3 or IL-1β treatment in culture. We found no differences in cortical, subchondral and trabecular bone between WT and MT in young (4 months and old mice (16-24 months. The articular cartilage and age-related alterations between WT and MT were also similar. However, 2 months following DMM, young MT showed milder OA compared to WT (~70% vs ~30% normal or exhibiting only mild OA cartilage phenotype. The majority of the older WT and MT mice developed moderate/severe OA 2 months after DMM, but a higher subset of aged MT cartilage (27% vs. 9% WT remained largely normal. Chondrogenic gene expression (Sox9, Col2, Acan trended higher in MT iMACs than WT with/without TGF-β3 treatment. IL-1β treatment suppressed chondrgenic gene expression, but Sox9 expression in MT remained significantly higher than WT. Smurf2 protein in WT iMACs increased upon TGF-β3 treatment and decreased upon IL-1β treatment in a dose-dependent manner. Smurf1 protein elevated more in MT than WT upon TGF-β3 treatment, suggesting a potential, but very mild compensatory effect. Overall, our data support a role of Smurf2 in regulating OA development but suggest that inhibiting Smurf2 alone may not be sufficient to prevent or consistently mitigate post

  5. Carbon Monoxide Interacts with Auxin and Nitric Oxide to Cope with Iron Deficiency in Arabidopsis

    Science.gov (United States)

    Yang, Liming; Ji, Jianhui; Wang, Hongliang; Harris-Shultz, Karen R.; Abd_Allah, Elsayed F.; Luo, Yuming; Guan, Yanlong; Hu, Xiangyang

    2016-01-01

    To clarify the roles of carbon monoxide (CO), nitric oxide (NO), and auxin in the plant response to iron deficiency (–Fe), and to establish how the signaling molecules interact to enhance Fe acquisition, we conducted physiological, genetic, and molecular analyses that compared the responses of various Arabidopsis mutants, including hy1 (CO deficient), noa1 (NO deficient), nia1/nia2 (NO deficient), yuc1 (auxin over-accumulation), and cue1 (NO over-accumulation) to –Fe stress. We also generated a HY1 over-expression line (named HY1-OX) in which CO is over-produced compared to wild-type. We found that the suppression of CO and NO generation using various inhibitors enhanced the sensitivity of wild-type plants to Fe depletion. Similarly, the hy1, noa1, and nia1/nia2 mutants were more sensitive to Fe deficiency. By contrast, the yuc1, cue1, and HY1-OX lines were less sensitive to Fe depletion. The hy1 mutant with low CO content exhibited no induced expression of the Fe uptake-related genes FIT1 and FRO2 as compared to wild-type plants. On the other hand, the treatments of exogenous CO and NO enhanced Fe uptake. Likewise, cue1 and HY1-OX lines with increased endogenous content of NO and CO, respectively, also exhibited enhanced Fe uptake and increased expression of bHLH transcriptional factor FIT1as compared to wild-type plants. Furthermore, we found that CO affected auxin accumulation and transport in the root tip by altering the PIN1 and PIN2 proteins distribution that control lateral root structure under –Fe stress. Our results demonstrated the integration of CO, NO, and auxin signaling to cope with Fe deficiency in Arabidopsis. PMID:27014280

  6. Carbon Monoxide Interacts with Auxin and Nitric Oxide to Cope with Iron Deficiency in Arabidopsis.

    Science.gov (United States)

    Yang, Liming; Ji, Jianhui; Wang, Hongliang; Harris-Shultz, Karen R; Abd Allah, Elsayed F; Luo, Yuming; Guan, Yanlong; Hu, Xiangyang

    2016-01-01

    To clarify the roles of carbon monoxide (CO), nitric oxide (NO), and auxin in the plant response to iron deficiency (-Fe), and to establish how the signaling molecules interact to enhance Fe acquisition, we conducted physiological, genetic, and molecular analyses that compared the responses of various Arabidopsis mutants, including hy1 (CO deficient), noa1 (NO deficient), nia1/nia2 (NO deficient), yuc1 (auxin over-accumulation), and cue1 (NO over-accumulation) to -Fe stress. We also generated a HY1 over-expression line (named HY1-OX) in which CO is over-produced compared to wild-type. We found that the suppression of CO and NO generation using various inhibitors enhanced the sensitivity of wild-type plants to Fe depletion. Similarly, the hy1, noa1, and nia1/nia2 mutants were more sensitive to Fe deficiency. By contrast, the yuc1, cue1, and HY1-OX lines were less sensitive to Fe depletion. The hy1 mutant with low CO content exhibited no induced expression of the Fe uptake-related genes FIT1 and FRO2 as compared to wild-type plants. On the other hand, the treatments of exogenous CO and NO enhanced Fe uptake. Likewise, cue1 and HY1-OX lines with increased endogenous content of NO and CO, respectively, also exhibited enhanced Fe uptake and increased expression of bHLH transcriptional factor FIT1as compared to wild-type plants. Furthermore, we found that CO affected auxin accumulation and transport in the root tip by altering the PIN1 and PIN2 proteins distribution that control lateral root structure under -Fe stress. Our results demonstrated the integration of CO, NO, and auxin signaling to cope with Fe deficiency in Arabidopsis. PMID:27014280

  7. Effect of copper deficiency on the content and secretion of pancreatic islet hormones

    Energy Technology Data Exchange (ETDEWEB)

    Bhathena, S.J.; Voyles, N.R.; Timmers, K.I.; Fields, M.; Kennedy, B.W.; Recant, L.

    1986-03-01

    Experimental copper (Cu) deficiency in rats is characterized by glucose intolerance and hyperlipemia. Its severity is increased by dietary fructose (F) as compared to starch (S). Since islet hormones are intimately involved in carbohydrate metabolism the authors studied the effects of Cu deficiency on their content and secretion. Rats were fed Cu deficient (CuD) (0.6 ..mu..g Cu/g) or Cu supplemented (6.0 ..mu..g Cu/g) diets with either 62% F or S for 7 weeks after weaning. Feeding CuD diets decreased plasma insulin (I) (P < 0.001) but not plasma glucagon (G). F feeding compared to S magnified the effects of Cu deficiency. Total pancreatic content of I in CuD rats was increased threefold (P < 0.001). Total somatostatin content increased significantly only in the pancreas of CuD rats fed F. Although total G content was not altered in CuD rats, when G was expressed per g protein or g wet weight, significant increases were found in CuD rats fed F. Thus, of the islet hormones, the major effect of Cu deficiency was on I. When pancreata were perfused in vitro with high glucose, pancreas from CuD rats had reduced insulin response. Thus, cellular functions dependent on Cu are involved in maintaining the ability of the islets of Langerhans to secrete I in a normal fashion.

  8. Diagnosis and treatment of vitamin D deficiency.

    Science.gov (United States)

    Cannell, J J; Hollis, B W; Zasloff, M; Heaney, R P

    2008-01-01

    The recent discovery--in a randomised, controlled trial--that daily ingestion of 1100 IU of colecalciferol (vitamin D) over a 4-year period dramatically reduced the incidence of non-skin cancers makes it difficult to overstate the potential medical, social and economic implications of treating vitamin D deficiency. Not only are such deficiencies common, probably the rule, vitamin D deficiency stands implicated in a host of diseases other than cancer. The metabolic product of vitamin D is a potent, pleiotropic, repair and maintenance, secosteroid hormone that targets > 200 human genes in a wide variety of tissues, meaning it has as many mechanisms of action as genes it targets. A common misconception is that government agencies designed present intake recommendations to prevent or treat vitamin D deficiency. They did not. Instead, they are guidelines to prevent particular metabolic bone diseases. Official recommendations were never designed and are not effective in preventing or treating vitamin D deficiency and in no way limit the freedom of the physician--or responsibility--to do so. At this time, assessing serum 25-hydroxy-vitamin D is the only way to make the diagnosis and to assure that treatment is adequate and safe. The authors believe that treatment should be sufficient to maintain levels found in humans living naturally in a sun-rich environment, that is, > 40 ng/ml, year around. Three treatment modalities exist: sunlight, artificial ultraviolet B radiation or supplementation. All treatment modalities have their potential risks and benefits. Benefits of all treatment modalities outweigh potential risks and greatly outweigh the risk of no treatment. As a prolonged 'vitamin D winter', centred on the winter solstice, occurs at many temperate latitudes, < or = 5000 IU (125 microg) of vitamin D/day may be required in obese, aged and/or dark-skinned patients to maintain adequate levels during the winter, a dose that makes many physicians uncomfortable. PMID

  9. 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

    OBJECTIVE: To describe baseline clinical presentation, treatment effects and evolution of isolated GH deficiency (IGHD) to multiple pituitary hormone deficiency (MPHD) in adult-onset (AO) GHD. DESIGN: Observational prospective study. METHODS: Baseline characteristics were recorded in 4110 patients...... 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...... with available data on concomitant medication (165 IGHD, 3006 MPHD). RESULTS: IGHD and MPHD patients had similar baseline clinical presentation, and both groups responded similarly to 2 years of GH therapy, with favourable changes in lipid profile and improved quality of life. New deficiencies were observed...

  10. Vitamin C deficiency in early postnatal life impairs spatial memory and reduces the number of hippocampal neurons in guinea pigs

    DEFF Research Database (Denmark)

    Tveden-Nyborg, Pernille Yde; Johansen, Louise Kruse; Raida, Zindy;

    2009-01-01

    was assessed by the Morris Water Maze, and hippocampal neuron numbers were quantified by stereologic techniques. RESULTS: The results showed a reduction in spatial memory (P < 0.05) and an increased time to first platform hit (P < 0.05) in deficient animals compared with controls. The deficient...... animals had a lower total number of neurons in hippocampal subdivisions (dentate gyrus, cornu ammonis 1, and cornu ammonis 2-3) than did the normal controls (P < 0.05). CONCLUSIONS: Our data show that vitamin C deficiency in early postnatal life results in impaired neuronal development and a functional...

  11. Growth hormone modulation of arginine-induced glucagon release: studies of isolated growth hormone deficiency and acromegaly.

    Science.gov (United States)

    Seino, Y; Taminato, T; Goto, Y; Inoue, Y; Kadowaki, S; Hattori, M; Mori, K; Kato, Y; Matsukura, S; Imura, H

    1978-12-01

    Plasma glucagon and insulin responses to L-arginine were compared in normal controls and patients with isolated growth hormone deficiency and acromegaly. Patients with isolated growth hormone deficiency were characterized by high plasma glucagon response and low plasma insulin response, whereas acromegalic patients showed exaggerated plasma glucagon response and almost normal insulin response. These results suggest that growth hormone is probably required for optimum function of the islets, and since hyperglucagonaemia was observed in both growth hormone deficiency and acromegaly, metabolic disturbances stemming from the respective primary diseases may affect glucagon secretion.

  12. Microarray data on altered transcriptional program of Phgdh-deficient mouse embryonic fibroblasts caused by ʟ-serine depletion.

    Science.gov (United States)

    Hamano, Momoko; Sayano, Tomoko; Kusada, Wataru; Kato, Hisanori; Furuya, Shigeki

    2016-06-01

    Inherent ʟ-Ser deficiency culminates in intrauterine growth retardation, severe malformation of multiple organs particularly the central nervous system, and perinatal or early postnatal death in human and mouse. To uncover the molecular mechanisms underlying the growth-arrested phenotypes of l-Ser deficiency, we compared gene expression profiles of mouse embryonic fibroblasts deficient in 3-phosphoglycerate dehydrogenase (Phgdh), the first enzyme of de novo ʟ-Ser synthetic pathway, between ʟ-Ser-depleted and -supplemented conditions. The datasets (CEL and CHP files) from this study are publicly available on the Gene Expression Omnibus repository (accession number GEO: GSE55687). PMID:27222860

  13. 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.

  14. High Prevalence of Vitamin D Deficiency in Cambodian Women: A Common Deficiency in a Sunny Country.

    Science.gov (United States)

    Smith, Geoffry; Wimalawansa, Sunil J; Laillou, Arnaud; Sophonneary, Prak; Un, Samoeurn; Hong, Rathavuth; Poirot, Etienne; Kuong, Khov; Chamnan, Chhoun; De Los Reyes, Francisco N; Wieringa, Frank T

    2016-01-01

    Recent studies have shown that in spite of being generally close to the equator; vitamin D deficiency is common in South East Asian countries. In order to quantify micronutrient status for women and children in Cambodia; a nationally-representative survey was conducted in 2014 linked to the Cambodian Demographic Health Survey. The countrywide median of 25(OH)D was, respectively, 64.9 and 91.1 nmol/L for mothers and children. Based on The Endocrine Society cutoffs (>50children had plasma vitamin D concentrations indicating insufficiency or deficiency. For deficiency alone, 29% of the mothers were found to be vitamin D deficient, but only 13.4% of children. Children who live in urban areas had a 43% higher rate of vitamin D insufficiency versus those who live in rural areas (OR; 1.434; 95% CI: 1.007; 2.041). However, such differences were not observed in their mothers. The high prevalence of vitamin D deficiency is likely in part due to lifestyle choices, including sun avoidance, increasingly predominant indoor work, and covered transport. These survey findings support the need for a broader national Cambodian study incorporating testing of adult men, adolescents and the elderly, and encompassing other parameters such as skeletal health. However, the data presented in this study already show significant deficiencies which need to be addressed and we discuss the benefit of establishing nationally-mandated food fortification programs to enhance the intake of vitamin D. PMID:27187456

  15. Reticulocyte parameters in hemoglobinopathies and iron deficiency anemia

    Directory of Open Access Journals (Sweden)

    Cortellazzi Laura C.

    2003-01-01

    Full Text Available Flow cytometric reticulocyte analysis allows the evaluation of reticulocyte maturity. New reticulocyte parameters have been used in the diagnosis and management of anemias, in the bone marrow transplant setting and in the monitoring of iron replacement or erythropoiet in therapy. Reticulocyte numbers and maturation levels have been studied in different hemoglobinopathies and the results have been correlated with the degree of ineffective erythropoiesis. In order to verify differences in reticulocyte parameters in various types of anemias and to test the absolute number of immature reticulocytes as a possible discriminating factor among various types of anemias, reticulocyte counts were performed on 219 samples from patients with sickle cell anemia (SS (n= 62, hemoglobin S trait (n=9, Sbeta thalassemia (n=7, hemoglobin SC disease (n=11, beta thalassemia trait (n=33 and iron deficiency anemia (n= 47, and non-anemic individuals (n= 50. Mean fluorescence index (MFI was defined as representative of the degree of reticulocyte immaturity and it was evaluated as a percentage and in absolute values. Reticulocyte counts and MFI values were significantly higher in SS, Sbeta thalassemic and SC groups when compared to controls, but not different among the three anemia groups. Patients with hemoglobin S trait, iron deficiency anemia and beta thalassemia trait showed reticulocyte parameters similar to the non-anemic group. There was no difference between the b thalassemic trait and iron deficiency anemia in relation to any parameters. MFI in absolute numbers were significantly higher in anemias that develop with the hemolytic process, although this was not evident in MFI percentage values. Our results showed that the erythoid expansion in sickle cell diseases (SS, SC and Sb thalassemia leads to an enhanced immature reticulocyte release from bone marrow and that the phenomena is more evident by the MFI counting in absolute figures than in percentages. We

  16. Alterations of proteins in MDCK cells during acute potassium deficiency.

    Science.gov (United States)

    Peerapen, Paleerath; Ausakunpipat, Nardtaya; Chanchaem, Prangwalai; Thongboonkerd, Visith

    2016-06-01

    Chronic K(+) deficiency can cause hypokalemic nephropathy associated with metabolic alkalosis, polyuria, tubular dilatation, and tubulointerstitial injury. However, effects of acute K(+) deficiency on the kidney remained unclear. This study aimed to explore such effects by evaluating changes in levels of proteins in renal tubular cells during acute K(+) deficiency. MDCK cells were cultivated in normal K(+) (NK) (K(+)=5.3 mM), low K(+) (LK) (K(+)=2.5 mM), or K(+) depleted (KD) (K(+)=0 mM) medium for 24 h and then harvested. Cellular proteins were resolved by two-dimensional gel electrophoresis (2-DE) and visualized by SYPRO Ruby staining (5 gels per group). Spot matching and quantitative intensity analysis revealed a total 48 protein spots that had significantly differential levels among the three groups. Among these, 46 and 30 protein spots had differential levels in KD group compared to NK and LK groups, respectively. Comparison between LK and NK groups revealed only 10 protein spots that were differentially expressed. All of these differentially expressed proteins were successfully identified by Q-TOF MS and/or MS/MS analyses. The altered levels of heat shock protein 90 (HSP90), ezrin, lamin A/C, tubulin, chaperonin-containing TCP1 (CCT1), and calpain 1 were confirmed by Western blot analysis. Global protein network analysis showed three main functional networks, including 1) cell growth and proliferation, 2) cell morphology, cellular assembly and organization, and 3) protein folding in which the altered proteins were involved. Further investigations on these networks may lead to better understanding of pathogenic mechanisms of low K(+)-induced renal injury.

  17. 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.

  18. 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.

  19. Absorption of plutonium in the iron-deficient rat

    International Nuclear Information System (INIS)

    Iron deficiency did not enhance absorption of plutonium following intragastric gavage of rats. Absorption of plutonium citrate in both control and iron-deficient rats was about 0.03% of the administered dose

  20. Primary Immune Deficiency Diseases: Talking to Your Doctor

    Science.gov (United States)

    ... Content Marketing Share this: Main Content Area Primary Immune Deficiency Diseases Talking to Your Doctor Take Action: When Your ... repeat infections in the future. People with primary immune deficiency diseases (PIDDs), however, have defects in one or more ...

  1. What Is Combined Deficiency of Vitamin K-Dependent Clotting Factors?

    Science.gov (United States)

    ... Pool Deficiencies Home About Bleeding Disorders What is combined deficiency of vitamin K-dependent clotting factors? Inherited combined deficiency of the vitamin K-dependent clotting factors ( ...

  2. Tolerance to water deficiency between two soybean cultivars: transgenic versus conventional Tolerância à deficiência hídrica entre dois cultivares de soja: transgênico versus convencional

    OpenAIRE

    Tiago Aranda Catuchi; Hílton Fabrício Vítolo; Suzana Chiari Bertolli; Gustavo Maia Souza

    2011-01-01

    The main goal of the study was to evaluate the effects on the development and physiological aspects of soybean plants grown under water deficiency at greenhouse conditions, comparing the levels of tolerance to water deficiency between one transgenic and one conventional cultivar, enabling a systematic way to carried out physiological comparisons between soybean cultivars under drought. The study was divided into completely randomized using a factorial 2×2 design, with five replicates. T...

  3. Efficient and reproducible identification of mismatch repair deficient colon cancer

    DEFF Research Database (Denmark)

    Joost, Patrick; Bendahl, Pär-Ola; Halvarsson, Britta;

    2013-01-01

    BACKGROUND: The identification of mismatch-repair (MMR) defective colon cancer is clinically relevant for diagnostic, prognostic and potentially also for treatment predictive purposes. Preselection of tumors for MMR analysis can be obtained with predictive models, which need to demonstrate ease...... of application and favorable reproducibility. METHODS: We validated the MMR index for the identification of prognostically favorable MMR deficient colon cancers and compared performance to 5 other prediction models. In total, 474 colon cancers diagnosed ≥ age 50 were evaluated with correlation between...... and efficiently identifies MMR defective colon cancers with high sensitivity and specificity. The model shows stable performance with low inter-observer variability and favorable performance when compared to other MMR predictive models....

  4. 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

    controls (n = 8), which indicates a slow turnover rate of carbohydrate deficient transferrin. Food ingestion did not affect the circulating level of carbohydrate deficient transferrin, and the analysis of carbohydrate deficient transferrin was almost unaffected by the presence of ethanol in plasma within...... alcohol intake, but the overlap is substantial in patients with cirrhosis. Carbohydrate deficient transferrin has a low turnover rate in both patients with cirrhosis and normals....

  5. 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...

  6. 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.

  7. Fetal effects of epidermal growth factor deficiency induced in rats by autoantibodies against epidermal growth factor

    DEFF Research Database (Denmark)

    Raaberg, Lasse; Nexø, Ebba; Jørgensen, P E;

    1995-01-01

    We have used rats with epidermal growth factor (EGF) autoantibodies to study the role of EGF deficiency during perinatal development. The study was focused on organs known to contain EGF or its receptor. Compared with controls, the offspring of autoimmune rats had a higher perinatal mortality and...

  8. Carbon monoxide interacts with auxin and nitric oxide to cope with iron deficiency in Arabidopsis

    Science.gov (United States)

    To clarify the roles of CO, NO and auxin in the plant response to iron deficiency and to establish how the signaling molecules interact to enhance Fe acquisition, we conducted physiological, genetic, and molecular analyses that compared the responses of various Arabidopsis mutants, including hy1 (CO...

  9. Characterization of the stress response in 17a-hydroxylase deficient common carp (Cyprinus carpio L.)

    NARCIS (Netherlands)

    Nematollahi, M.A.

    2008-01-01

    In this thesis we describe interrenal hyperplasia in a teleost fish, the common carp, Cyprinus carpio L, caused by 17α-hydroxylase deficiency. Two homozygous, XX male inbred strains, “E5” and “E7”, consistently show 5-10 fold less plasma cortisol in response to net confinement compared to normal mal

  10. Zinc deficiency increases miR-34a expression in mice

    Science.gov (United States)

    miRNAs play a significant role in the regulation of gene expression in a plethora of eukaryotic systems by binding to complementary regions of specific target mRNAs. To explore the possible changes of miRNA expression induced by zinc deficiency, we compared the global miRNA expression in small intes...

  11. Iron-Deficiency Anemia in Infancy and Social Emotional Development in Preschool-Aged Chinese Children

    NARCIS (Netherlands)

    Chang, S.; Wang, L.; Wang, Y.; Brouwer, I.D.; Kok, F.J.; Lozoff, B.; Chen, C.

    2011-01-01

    Objective: We aimed to compare affect and behavior of 3 groups of nonanemic 4-year-old children: children with iron-deficiency anemia (IDA) in infancy whose anemia was not corrected before 24 months (chronic IDA) (n = 27); children with IDA in infancy whose anemia was corrected before 24 months (cor

  12. Association of vitamin D deficiency during pregnancy with preeclampsia and eclampsia

    Directory of Open Access Journals (Sweden)

    Poonam Goel

    2016-09-01

    Conclusions: Although mean serum 25(OHD levels were significantly less in preeclampsia/eclampsia group, prevelance of vitamin D deficiency was not significantly different in pregnant women with preeclampsia/eclampsia as compared to women who did not have preeclampsia/eclampsia. [Int J Reprod Contracept Obstet Gynecol 2016; 5(9.000: 3046-3050

  13. Differential programming of p53-deficient embryonic cells during rotenone block

    Science.gov (United States)

    Mitochondrial dysfunction has been implicated in chemical toxicities. The present study used an in vitro model to investigate the differential expression of metabolic pathways during cellular stress in p53- efficient embryonic fibroblasts compared to p53-deficient cells. These c...

  14. Prognosis of patients with alpha1-antitrypsine deficiency on long-term oxygen therapy

    DEFF Research Database (Denmark)

    Ringbaek, Thomas J; Seersholm, Niels; Perch, Michael;

    2014-01-01

    INTRODUCTION: Data on patients with alpha1-antitrypsine deficiency (AATD) on long-term oxygen therapy (LTOT) is sparse. The aim of this study was to present the incidence of patients with AATD on LTOT, and compare their characteristics, comorbidities and prognosis (lung transplantation, termination...

  15. Ethanol metabolism in a peroxisome-deficient mutant of the yeast Hansenula polymorpha

    NARCIS (Netherlands)

    Sulter, G.J.; Klei, I.J. van der; Schanstra, J.P.; Harder, W.; Veenhuis, M.

    1991-01-01

    This paper describes ethanol metabolism in a peroxisome-deficient (PER) mutant of Hansenula polymorpha. The PER mutant was able to use ethanol as sole-carbon source but showed reduced growth rates compared to wild-type cells together with a reduced rate of ethanol utilization under µmax conditions.

  16. Screening of Wild Strawberry Genotypes against Iron Deficiency under Greenhouse Conditions

    Directory of Open Access Journals (Sweden)

    Ayfer Alkan TORUN

    2013-12-01

    Full Text Available The cultivated strawberry Fragaria × ananassa Duch. is the natural hybrid of F. chiloensis (L. Mill. and F. virginiana Mill. The progenitor species have high genetic diversity compared with the cultivated genotypes; therefore, the use of wild relative in F. chiloensis breeding could provide a good for broadening the available genetic variations of cultivated species. In present study, 13 genotypes selected from strawberry super core collection were tested under Fe (- and Fe (+ conditions for their response against Fe deficiency conditions in a growth medium (GM (soil + sand + perlite, potentially able to simulate the actual GM in nature. SPAD-meter readings indicating chlorophyll levels of the leaf, shoot dry matter yield, Fe-efficiency rate, shoot total and active Fe concentrations were determined to evaluate the resistance levels of strawberry genotypes against Fe deficiency. Results of this study indicated that different response for strawberry subspecies and genotypes of the same subspecies grown in GM against Fe deficiency. Symptom for Fe deficiency of genotypes varied between 1-5, SPAD-meter readings 3, shoot dry matter yields and shoot Fe concentrations varied between 6.5-38, 1.02-6.06 g plant-1 and 41.8-233.1 mg kg-1 respectively. Iron-efficiencies of genotypes were found between 58–98%. Strawberry subspecies, F. virginiana spp. glauca, F. chiloensis ssp. chiloensis and F. chiloensis ssp. pacifica showed Fe-efficiency values of 93.8, 79.5 and 79.1% respectively. We concluded that shoot growth performance, Fe intake from GM, transfer of Fe from roots to shoots, shoot Fe-use efficiency, Fe deficiency symptom levels and SPAD-meter readings indicating chlorophyll levels were significant parameters to evaluate the resistance of strawberry genotypes against Fe deficiency. The most Fe-efficient genotypes belonging to F. virginiana spp. glauca could be used in breeding programs aiming at developing new strawberry genotypes suitable for

  17. Strategies to rescue the consequences of inducible arginase-1 deficiency in mice.

    Directory of Open Access Journals (Sweden)

    Laurel L Ballantyne

    Full Text Available Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body. Arginase-1 deficiency leads to hyperargininemia in mice and man with severe lethal consequences in the former and progressive neurological impairment to varying degrees in the latter. In a tamoxifen-induced arginase-1 deficient mouse model, mice succumb to the enzyme deficiency within 2 weeks after inducing the knockout and retain <2 % enzyme in the liver. Standard clinical care regimens for arginase-1 deficiency (low-protein diet, the nitrogen-scavenging drug sodium phenylbutyrate, ornithine supplementation either failed to extend lifespan (ornithine or only minimally prolonged lifespan (maximum 8 days with low-protein diet and drug. A conditional, tamoxifen-inducible arginase-1 transgenic mouse strain expressing the enzyme from the Rosa26 locus modestly extended lifespan of neonatal mice, but not that of 4-week old mice, when crossed to the inducible arginase-1 knockout mouse strain. Delivery of an arginase-1/enhanced green fluorescent fusion construct by adeno-associated viral delivery (rh10 serotype with a strong cytomegalovirus-chicken β-actin hybrid promoter rescued about 30% of male mice with lifespan prolongation to at least 6 months, extensive hepatic expression and restoration of significant enzyme activity in liver. In contrast, a vector of the AAV8 serotype driven by the thyroxine-binding globulin promoter led to weaker liver expression and did not rescue arginase-1 deficient mice to any great extent. Since the induced arginase-1 deficient mouse model displays a much more severe phenotype when compared to human arginase-1 deficiency, these studies reveal that it may be feasible with gene therapy strategies to correct the various manifestations of the disorder and they provide optimism for future clinical studies.

  18. Blood and hair lead in children with different extents of iron deficiency in Karachi

    Energy Technology Data Exchange (ETDEWEB)

    Ataur Rahman, Muhammad; Rahman, Bushra [Karachi Institute of Biotechnology and Genetic Engineering, University of Karachi, Karachi-75270 (Pakistan); Saeed Ahmad, Muhammad [School of Healthcare Science, Manchester Metropolitan University, Manchester M1 5GD (United Kingdom); Blann, Andrew [Department of Medicine, City Hospital, Birmingham B18 7QH, United Kingdom. (United Kingdom); Ahmed, Nessar, E-mail: N.Ahmed@mmu.ac.uk [School of Healthcare Science, Manchester Metropolitan University, Manchester M1 5GD (United Kingdom)

    2012-10-15

    Childhood iron deficiency has a high incidence in Pakistan. Some but not all studies have shown that dietary iron deficiency may cause increased absorption of lead as both compete for the same transporters in the small intestine. Therefore, children in Pakistan, residing in heavily polluted cities like Karachi may be prone to lead poisoning. This hypothesis was tested by investigating blood and hair lead concentrations in children from Karachi who were divided into four groups of iron status; normal, borderline iron deficiency, iron deficiency and iron deficiency anaemia. A prospective observational study was conducted where 269 children were categorized into four groups of iron status using the World Health Organization criteria and one based on soluble transferrin receptor measurements. Blood iron status was determined using a full blood count, serum iron, ferritin, transferrin saturation and soluble transferrin receptor measurements. Blood lead was determined by graphite atomic absorption spectroscopy, whereas hair lead was assessed using an inductively coupled plasma atomic emission spectroscopy technique. Blood lead concentrations were significantly higher in children with iron deficiency anaemia (mean [95% confidence intervals] were 24.9 [22.6-27.2] {mu}g/dL) compared to those with normal iron status (19.1 [16.8-21.4] {mu}g/dL) using WHO criteria. In contrast, hair lead content was not significantly different in children of different iron status. Our findings reinforce the importance of not only reducing environmental lead pollution but also the development of national health strategies to reduce childhood iron deficiency in Pakistan.

  19. Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Ouest and Sud-Est departments of Haiti.

    Science.gov (United States)

    von Fricken, Michael E; Weppelmann, Thomas A; Eaton, Will T; Alam, Meer T; Carter, Tamar E; Schick, Laura; Masse, Roseline; Romain, Jean R; Okech, Bernard A

    2014-07-01

    Malaria remains a significant public health issue in Haiti, with chloroquine (CQ) used almost exclusively for the treatment of uncomplicated infections. Recently, single dose primaquine (PQ) was added to the Haitian national malaria treatment policy, despite a lack of information on the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency within the population. G6PD deficient individuals who take PQ are at risk of developing drug induced hemolysis (DIH). In this first study to examine G6PD deficiency rates in Haiti, 22.8% (range 14.9%-24.7%) of participants were found to be G6PD deficient (class I, II, or III) with 2.0% (16/800) of participants having severe deficiency (class I and II). Differences in deficiency were observed by gender, with males having a much higher prevalence of severe deficiency (4.3% vs. 0.4%) compared to females. Male participants were 1.6 times more likely to be classified as deficient and 10.6 times more likely to be classified as severely deficient compared to females, as expected. Finally, 10.6% (85/800) of the participants were considered to be at risk for DIH. Males also had much higher rates than females (19.3% vs. 4.6%) with 4.9 times greater likelihood (p value 0.000) of having an activity level that could lead to DIH. These findings provide useful information to policymakers and clinicians who are responsible for the implementation of PQ to control and manage malaria in Haiti.

  20. 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

  1. Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

    DEFF Research Database (Denmark)

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

    2016-01-01

    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...

  2. 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...

  3. 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)

  4. 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.…

  5. 30 CFR 57.8527 - Oxygen-deficiency testing.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Oxygen-deficiency testing. 57.8527 Section 57... Underground Only § 57.8527 Oxygen-deficiency testing. Flame safety lamps or other suitable devices shall be used to test for acute oxygen deficiency....

  6. Obsessive compulsive disorder as early manifestation of b12 deficiency

    OpenAIRE

    Maryam Valizadeh; Nasim Valizadeh

    2011-01-01

    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.

  7. 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...

  8. 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

  9. The Relationship between Iron Deficiency and Febrile Convulsion: A Case-Control Study

    OpenAIRE

    Sharif, Mohammad Reza; Kheirkhah, Davood; Madani, Mahla; Kashani, Hamed Haddad

    2015-01-01

    Introduction: Febrile seizure is among the most common convulsion disorders in children, which strikes 2% to 5% of children between 3 to 60 months of age. Some studies have reported that iron deficiency could be a risk factor for febrile seizure. The present study was conducted to compare the rate of iron deficiency anemia in febrile children with and without seizure. Materials and Methods: This case-control study evaluated 200 children aged 6-60 month in two 100 person groups (febrile seizur...

  10. Comparative hemorheology

    OpenAIRE

    Başkurt, Oğuz K.; Meiselman, Herbert J.

    2013-01-01

    Comparative data on blood composition and blood flow properties indicate different levels of interspecies variation for several parameters. Hematocrit and hemoglobin levels have relatively low variability among mammals, while mean cell volume and red blood cell (RBC) count are more variable. There is also a difference of variability between high and low shear rate blood viscosity in mammals, with low shear rate viscosity having a higher degree of interspecies variation. This observation paral...

  11. 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.

  12. Biotinidase deficiency and our champagne legacy.

    Science.gov (United States)

    Wolf, Barry

    2016-09-10

    Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin; however, some clinical features may be irreversible. Fortunately, essentially all symptoms can be prevented if treatment is initiated at birth or before the symptoms develop. Because of this, the disorder is currently screened for in newborns in all states in the United States and in many countries around the world. This is the story of one laboratory's work in bringing basic science research from the discovery of the disorder to its translation into clinical medicine and its impact on the individuals with the disorder and their families. PMID:26456103

  13. 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.

  14. Insomnia and sleep deficiency in pregnancy.

    Science.gov (United States)

    Reichner, Cristina A

    2015-12-01

    Insomnia and sleep deficiency in pregnancy are very common with most women reporting sleep disturbances during pregnancy. Insomnia and sleep deficiency are also more prevalent as pregnancy progresses, possibly related to pregnancy-related physical symptoms or discomfort. There is increasing evidence indicating that these sleep problems may be associated with adverse maternal and fetal outcomes such as depressive symptoms, increased pain during labor, more Caesarean sections, preterm birth, and low birth weight. Treatment of insomnia remains challenging as some of the more commonly used sleep inducing medications such as benzodiazepines and hypnotic benzodiazepine receptor agonists may be associated with adverse neonatal outcomes. Nonpharmacological treatments such as cognitive behavioral therapy are available but the data in pregnancy is often lacking. PMID:27512475

  15. 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.

  16. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

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

    2000-01-01

    in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately...... endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine...... 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. Udgivelsesdato: 2000-Nov...

  17. Primary Carnitine deficiency in the Faroe Islands

    DEFF Research Database (Denmark)

    Rasmussen, Jan; Køber, Lars; Lund, Allan M;

    2014-01-01

    BACKGROUND: Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15-80 years) with Primary Carnitine Deficiency (PCD). We describe...... prior and current health status and symptoms in these patients, especially focusing on cardiac characteristics. METHODS: Upon identification, patients were immediately admitted for physical examination, ECG, blood tests and initiation of L-carnitine supplementation. Medical records were reviewed...... and patients were interviewed. Echocardiography and blood tests were performed in 35 patients before and after L-carnitine supplementation. RESULTS: All patients were either asymptomatic or had minor symptoms when diagnosed. Echocardiography including LVEF, global longitudinal strain and dimensions were normal...

  18. Vitamin D deficiency and posterior subcapsular cataract

    OpenAIRE

    Brown, Craig

    2015-01-01

    Craig J Brown,1 Faical Akaichi21The Eye Center, Fayetteville, AR, USA; 2Scotland’s Rural College, Edinburgh, UKPurpose: To evaluate risk factors associated with posterior subcapsular cataract (PSC) development and the relationship between vitamin D deficiency and etiology of PSC.Methods: Of 195 consecutive patients from a private ophthalmology practice, diagnosed with PSC, serum vitamin D3 (25-OH D) levels were obtained for 175, and associations among risk factors, comorbidities, an...

  19. Vitamin D deficiency and posterior subcapsular cataract

    OpenAIRE

    Brown CJ; Akaichi F

    2015-01-01

    Craig J Brown,1 Faical Akaichi21The Eye Center, Fayetteville, AR, USA; 2Scotland’s Rural College, Edinburgh, UKPurpose: To evaluate risk factors associated with posterior subcapsular cataract (PSC) development and the relationship between vitamin D deficiency and etiology of PSC.Methods: Of 195 consecutive patients from a private ophthalmology practice, diagnosed with PSC, serum vitamin D3 (25-OH D) levels were obtained for 175, and associations among risk factors, comorbidities, and PS...

  20. Vitamin D deficiency in hemodialysis patients

    OpenAIRE

    Beena Bansal; Shyam Bansal; Ambrish Mithal; Vijay Kher; Raman Marwaha

    2012-01-01

    Background : Vitamin D [(25(OH)D] deficiency and insufficiency is common in patients with chronic kidney disease (CKD). 25(OH)D 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,...

  1. Lipoprotein lipase deficiency with visceral xanthomas

    Energy Technology Data Exchange (ETDEWEB)

    Servaes, Sabah; Bellah, Richard [Department of Radiology, Philadelphia, PA (United States); Verma, Ritu [Department of Gastroenterology, Philadelphia, PA (United States); Pawel, Bruce [Department of Pathology, Philadelphia, PA (United States)

    2010-08-15

    Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD. (orig.)

  2. Music-reading deficiencies and the brain

    OpenAIRE

    Cuddy, Lola L.; Sylvie Hébert

    2006-01-01

    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, ...

  3. Vitamin D deficiency in pediatric critical illness

    OpenAIRE

    Kiran B. Hebbar, MD, FCCM; Michael Wittkamp, MD, FAAP; Jessica A. Alvarez, PhD, RD; Courtney E. McCracken, PhD; Vin Tangpricha, MD, PhD

    2014-01-01

    Introduction: The potential role for vitamin D in infection has been well described in adults. The objective of our study was to determine the prevalence of vitamin D insufficiency and to evaluate the relationship between vitamin D status and markers of innate immunity and infection in critically ill children. Hypothesis: Vitamin D deficiency is highly prevalent in children with critical illness and correlates with the severity of illness and dysfunction in innate immunity. Methods: We ...

  4. Reticulocyte hemoglobin content as a predictor of iron deficiency anemia

    Directory of Open Access Journals (Sweden)

    Ni Made Rini Suari

    2015-05-01

    Full Text Available Background Iron deficiency anemia (IDA is the most common form of anemia in developing countries, such as Indonesia. Iron deficiency anemia in children is a serious problem because it affects their growth and development. Early detection of IDA and subsequent treatment in childhood may prevent future health problems.Objective To assess the use of reticulocyte hemoglobin content (CHr to detect IDA in children aged 6-60 months.Methods We performed a cross-sectional study to measure the sensitivity and specificity of CHr compared to serum ferritin which is considered to be the gold standard for IDA diagnosis. The study was conducted from September 2011 to March 2013 in children aged 6-60 months who visited the Pediatric Outpatient Clinic, Sanglah Hospital, and Puskesmas II in West Denpasar. Data analysis was performed by 2x2 table. The results were assessed by area under the curve (AUC and receiver operating characteristic (ROC.Results Of 121 children underwent blood testing during the study period, 69 children were excluded because they did not have hypochromic microcytic anemia, leaving 52 subjects eligible for the study. The prevalence of IDA in this study was 31%. Reticulocyte hemoglobin content (CHr ≤ 23.1 pg had 88% (95%CI 71 to 100% sensitivity and 25% (95%CI 11 to 39% specificity.Conclusion Reticulocyte hemoglobin content < 23.1 pg may be a good predictor of IDA.

  5. Altered pupillary light reflex in PACAP receptor 1-deficient mice.

    Science.gov (United States)

    Engelund, Anna; Fahrenkrug, Jan; Harrison, Adrian; Luuk, Hendrik; Hannibal, Jens

    2012-05-01

    The pupillary light reflex (PLR) is regulated by the classical photoreceptors, rods and cones, and by intrinsically photosensitive retinal ganglion cells (ipRGCs) expressing the photopigment melanopsin. IpRGCs receive input from rods and cones and project to the olivary pretectal nucleus (OPN), which is the primary visual center involved in PLR. Mice lacking either the classical photoreceptors or melanopsin exhibit some changes in PLR, whereas the reflex is completely lost in mice deficient of all three photoreceptors. The neuropeptide pituitary adenylate cyclase-activating polypeptide (PACAP) is co-stored with melanopsin in ipRGCs and mediates light signaling to the brain via the specific PACAP receptor 1 (PAC1R). Here, we examined the occurrence of PACAP and PAC1R in the mouse OPN, and studied if lack of PAC1R affected the PLR. PACAP-immunoreactive nerve fibers were shown in the mouse OPN, and by in situ hybridization histochemistry, we demonstrated the presence of PAC1R mRNA. Mice lacking PAC1R exhibited a significantly attenuated PLR compared to wild type mice upon light stimulation, and the difference became more pronounced as light intensity was increased. Our findings accord well with observations of the PLR in the melanopsin-deficient mouse. We conclude that PACAP/PAC1R signaling is involved in the sustained phase of the PLR at high irradiances.

  6. Deficient safety learning characterizes high trait anxious individuals.

    Science.gov (United States)

    Gazendam, Femke J; Kamphuis, Jan H; Kindt, Merel

    2013-02-01

    Trait anxiety is a well-established risk factor for developing anxiety disorders, but evidence for abnormal associative fear learning in high trait anxious (HTA) individuals is inconclusive. In part, this may due to limitations in the scope and measures used to assess fear learning. The current study therefore assessed fear learning across multiple response domains and multiple test phases in a two-day discriminative fear-conditioning paradigm. We tested whether trait anxiety is associated with deficient safety learning, by comparing HTA individuals (N=20) and healthy Controls (N=22). HTA participants showed stronger fear on the startle response and distress ratings to the safety (CS(-)) but not to the threat stimulus (CS(+)) during acquisition, along with impaired extinction and re-extinction. Trait anxiety did not affect skin conductance responses and effects on UCS-expectancy were limited. We conclude that high trait anxiety may be characterized by deficient safety learning which in turn may promote persistent and generalized fear responses.

  7. Effect of copper deficiency on plasma and adrenal catecholamines

    Energy Technology Data Exchange (ETDEWEB)

    Kennedy, B.W.; Bhathena, S.J.; Fields, M.; Voyles, N.R.; Timmers, K.I.; Recant, L.

    1986-03-01

    Copper (Cu) ion is an essential component of enzymes involved in catecholamine (CAT) metabolism. Copper deficiency (CuD) has been shown to affect the CAT content of brain (decreased norepinephrine (NE) and dopamine (DA)) and heart (increased DA and decreased NE). It is thus possible that plasma and adrenal CAT could be altered by CuD. The authors, then, investigated the effect of CuD on plasma and adrenal CAT in rats fed copper-deficient (0.6 ..mu..g Cu/g) or copper-supplemented (6.0 ..mu..g Cu/g) diets with either 62% starch (S) or fructose (F) as the carbohydrate source for 7 weeks after weaning. CuD was ascertained by decreased plasma Cu and ceruloplasmin activity. CuD increased the levels of all three CAT (NE, P < 0.001, epinephrine (E), P < 0.0001 and DA, P < 0.01) in plasma, but had no effect on adrenal CAT content. Dietary F had no significant effect on plasma CAT compared to S but did increase E in adrenal tissue (P < 0.001). They have previously demonstrated that CuD is accompanied by increased plasma glucose, triglyceride and cholesterol and decreased insulin. Thus, increased plasma CAT along with decreased plasma insulin may explain, in part, the glucose intolerance and abnormal lipid metabolism observed in CuD.

  8. Complement deficiency promotes cutaneous wound healing in mice.

    Science.gov (United States)

    Rafail, Stavros; Kourtzelis, Ioannis; Foukas, Periklis G; Markiewski, Maciej M; DeAngelis, Robert A; Guariento, Mara; Ricklin, Daniel; Grice, Elizabeth A; Lambris, John D

    2015-02-01

    Wound healing is a complex homeostatic response to injury that engages numerous cellular activities, processes, and cell-to-cell interactions. The complement system, an intricate network of proteins with important roles in immune surveillance and homeostasis, has been implicated in many physiological processes; however, its role in wound healing remains largely unexplored. In this study, we employ a murine model of excisional cutaneous wound healing and show that C3(-/-) mice exhibit accelerated early stages of wound healing. Reconstitution of C3(-/-) mice with serum from C3(+/+) mice or purified human C3 abrogated the accelerated wound-healing phenotype. Wound histology of C3(-/-) mice revealed a reduction in inflammatory infiltrate compared with C3(+/+) mice. C3 deficiency also resulted in increased accumulation of mast cells and advanced angiogenesis. We further show that mice deficient in the downstream complement effector C5 exhibit a similar wound-healing phenotype, which is recapitulated in C5aR1(-/-) mice, but not C3aR(-/-) or C5aR2(-/-) mice. Taken together, these data suggest that C5a signaling through C5aR may in part play a pivotal role in recruitment and activation of inflammatory cells to the wound environment, which in turn could delay the early stages of cutaneous wound healing. These findings also suggest a previously underappreciated role for complement in wound healing, and may have therapeutic implications for conditions of delayed wound healing.

  9. Serotonin deficiency exacerbates acetaminophen-induced liver toxicity in mice.

    Science.gov (United States)

    Zhang, Jingyao; Song, Sidong; Pang, Qing; Zhang, Ruiyao; Zhou, Lei; Liu, Sushun; Meng, Fandi; Wu, Qifei; Liu, Chang

    2015-01-29

    Acetaminophen (APAP) overdose is a major cause of acute liver failure. Peripheral 5-hydroxytryptamine (serotonin, 5-HT) is a cytoprotective neurotransmitter which is also involved in the hepatic physiological and pathological process. This study seeks to investigate the mechanisms involved in APAP-induced hepatotoxicity, as well as the role of 5-HT in the liver's response to APAP toxicity. We induced APAP hepatotoxicity in mice either sufficient of serotonin (wild-type mice and TPH1-/- plus 5- Hydroxytryptophan (5-HTP)) or lacking peripheral serotonin (Tph1-/- and wild-type mice plus p-chlorophenylalanine (PCPA)). Mice with sufficient 5-HT exposed to acetaminophen have a significantly lower mortality rate and a better outcome compared with mice deficient of 5-HT. This difference is at least partially attributable to a decreased level of inflammation, oxidative stress and endoplasmic reticulum (ER) stress, Glutathione (GSH) depletion, peroxynitrite formation, hepatocyte apoptosis, elevated hepatocyte proliferation, activation of 5-HT2B receptor, less activated c-Jun NH₂-terminal kinase (JNK) and hypoxia-inducible factor (HIF)-1α in the mice sufficient of 5-HT versus mice deficient of 5-HT. We thus propose a physiological function of serotonin that serotonin could ameliorate APAP-induced liver injury mainly through inhibiting hepatocyte apoptosis ER stress and promoting liver regeneration.

  10. Calcium Deficient Hydroxyapatite for Medical Application Prepared by Hydrothermal Method

    Science.gov (United States)

    Ioku, Koji; Kamitakahara, Masanobu; Ikeda, Tohru

    2010-11-01

    Hydrothermal processing plays a key role in the synthesis of biomaterials with excellent biocompatibility in the physiological environment. Especially, calcium phosphates are paid to much attention for the regenerative medicine. Two kinds of porous materials of hydroxyapatite with 70% porosity were prepared. One of them is a newly developed calcium-deficient hydroxyapatite composed of rod-shaped particles of about 20 μm in length synthesized hydrothermally (HHA) and the other one is the stoichiometric hydroxyapatite (SHA) prepared by the conventional sintering method. These materials were used for animal implantation tests to compare these biological responses. In the rabbit femur, implanted HHA was slowly resorbed and then most of the implanted HHA was resorbed after 72 weeks. The implanted SHA was unresorbed throughout the experimental period. The volume of newly formed bone and the number of osteoclasts in the implanted region were significantly larger in HHA than in SHA after 24 weeks. Results in the present research suggested that the activity of osteoclasts correlated to the bone forming activity of osteoblasts. The method to synthesize biodegradable pure calcium-deficient HA is expected to provide adequate biodegradability and bone replaceability.

  11. 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.

  12. An interactive app for color deficient viewers

    Science.gov (United States)

    Lau, Cheryl; Perdu, Nicolas; Rodríguez-Pardo, Carlos E.; Süsstrunk, Sabine; Sharma, Gaurav

    2015-01-01

    Color deficient individuals have trouble seeing color contrasts that could be very apparent to individuals with normal color vision. For example, for some color deficient individuals, red and green apples do not have the striking contrast they have for those with normal color vision, or the abundance of red cherries in a tree is not immediately clear due to a lack of perceived contrast. We present a smartphone app that enables color deficient users to visualize such problematic color contrasts in order to help them with daily tasks. The user interacts with the app through the touchscreen. As the user traces a path around the touchscreen, the colors in the image change continuously via a transform that enhances contrasts that are weak or imperceptible for the user under native viewing conditions. Specifically, we propose a transform that shears the data along lines parallel to the dimension corresponding to the affected cone sensitivity of the user. The amount and direction of shear are controlled by the user's finger movement over the touchscreen allowing them to visualize these contrasts. Using the GPU, this simple transformation, consisting of a linear shear and translation, is performed efficiently on each pixel and in real-time with the changing position of the user's finger. The user can use the app to aid daily tasks such as distinguishing between red and green apples or picking out ripe bananas.

  13. Primary Immune Deficiency Treatment Consortium (PIDTC) update.

    Science.gov (United States)

    Griffith, Linda M; Cowan, Morton J; Notarangelo, Luigi D; Kohn, Donald B; Puck, Jennifer M; Shearer, William T; Burroughs, Lauri M; Torgerson, Troy R; Decaluwe, Hélène; Haddad, Elie

    2016-08-01

    The Primary Immune Deficiency Treatment Consortium (PIDTC) is a collaboration of 41 North American centers studying therapy for rare primary immune deficiency diseases (PIDs), including severe combined immune deficiency (SCID), Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD). An additional 3 European centers have partnered with the PIDTC to study CGD. Natural history protocols of the PIDTC analyze outcomes of treatment for rare PIDs in multicenter longitudinal retrospective, prospective, and cross-sectional studies. Since 2009, participating centers have enrolled more than 800 subjects on PIDTC protocols for SCID, and enrollment in the studies on WAS and CGD is underway. Four pilot projects have been funded, and 12 junior investigators have received fellowship awards. Important publications of the consortium describe the outcomes of hematopoietic cell transplantation for SCID during 2000-2009, diagnostic criteria for SCID, and the pilot project of newborn screening for SCID in the Navajo Nation. The PIDTC Annual Scientific Workshops provide an opportunity to strengthen collaborations with junior investigators, patient advocacy groups, and international colleagues. Funded by the National Institute of Allergy and Infectious Diseases and the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, the PIDTC has recently received renewal for another 5 years. Here we review accomplishments of the group, projects underway, highlights of recent workshops, and challenges for the future. PMID:27262745

  14. 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

  15. 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

  16. VITAMIN D DEFICIENCY AND THE CLINICAL CONSEQUENCES.

    Science.gov (United States)

    Galesanu, Corina; Mocanu, Veronica

    2015-01-01

    Vitamin D is important for good health, growth and strong bones. Vitamin D is mostly made in the skin by exposure to sunlight. Most foods contain very little vitamin D naturally, though some are fortified with added vitamin D. Hypovitaminosis D is associated with cardiovascular disease, the metabolic syndrome, type 2 diabetes mellitus, cancer as well as with increased mortality. Further, Vitamin D deficiency is related to depression and impaired cognitive function. Increasing age and elevated body fat mass contribute to an increased risk of Vitamin D deficiency. A mild lack of vitamin D may not cause symptoms but can cause tiredness and general aches and pains. A more severe lack can cause s rious problems such as rickets (in children) and osteomalacia in adults). During menopause, the decline of estrogens results in increased bone turnover, a decrease in bone mineral density and elevated fracture risk. Treatment is with vitamin D supplements. Some people are more at risk of vitamin D deficiency, and so are recommended to take vitamin D supplements routinely. These include all pregnant and breastfeeding women, all infants (babies) and young children aged 6 months to 5 years, people aged 65 and over, and people who are not exposed to much sun. There are precise recommendations regarding a sufficient Vitamin D intake in order to prevent bone loss in peri- and postmenopausal women. It is also recommend routine supplements for certain people with darker skin, and for people with certain gut, liver or kidney diseases. PMID:26204630

  17. An unusual case of iron deficiency anemia is associated with extremely low level of transferrin receptor.

    Science.gov (United States)

    Hao, Shuangying; Li, Huihui; Sun, Xiaoyan; Li, Juan; Li, Kuanyu

    2015-01-01

    A case study of a female patient, diagnosed with iron deficiency anemia, was unresponsive to oral iron treatment and only partially responsive to parenteral iron therapy, a clinical profile resembling the iron-refractory iron deficiency anemia (IRIDA) disorder. However, the patient failed to exhibit microcytic phenotype, one of the IRIDA hallmarks. Biochemical assays revealed that serum iron, hepcidin, interluekin 6, and transferrin saturation were within the normal range of references or were comparable to her non-anemic offspring. Iron contents in serum and red blood cells and hemoglobin levels were measured, which confirmed the partial improvement of anemia after parenteral iron therapy. Strikingly, serum transferrin receptor in patient was almost undetectable, reflecting the very low activity of bone-marrow erythropoiesis. Our data demonstrate that this is not a case of systemic iron deficiency, but rather cellular iron deficit due to the low level of transferrin receptor, particularly in erythroid tissue.

  18. Antagonist muscle moment is increased in ACL deficient subjects during maximal dynamic knee extension

    DEFF Research Database (Denmark)

    Alkjær, Tine; Simonsen, Erik B; Magnusson, S Peter;

    2012-01-01

    INTRODUCTION: Coactivation of the hamstring muscles during dynamic knee extension may compensate for increased knee joint laxity in anterior cruciate ligament (ACL) deficient subjects. This study examined if antagonist muscle coactivation during maximal dynamic knee extension was elevated...... in subjects with anterior cruciate ligament (ACL) deficiency compared to age-matched healthy controls. METHODS: Electromyography (EMG) and net knee joint moments were recorded during maximal concentric quadriceps and eccentric hamstring contractions, performed in an isokinetic dynamometer (ROM: 90......-10°, angular speed: 30°/s). Hamstring antagonist EMG recorded during concentric quadriceps contraction was converted into antagonist moment based on the EMG-moment relationship observed during eccentric agonist contractions. RESULTS: The magnitude of antagonist hamstring EMG was 65.5% higher in ACL deficient...

  19. Hormone-sensitive lipase deficiency suppresses insulin secretion from pancreatic islets of Lepob/ob mice

    International Nuclear Information System (INIS)

    It has long been a matter of debate whether the hormone-sensitive lipase (HSL)-mediated lipolysis in pancreatic β-cells can affect insulin secretion through the alteration of lipotoxicity. We generated mice lacking both leptin and HSL (Lepob/ob/HSL-/-) and explored the role of HSL in pancreatic β-cells in the setting of obesity. Lepob/ob/HSL-/- developed elevated blood glucose levels and reduced plasma insulin levels compared with Lepob/ob/HSL+/+ in a fed state, while the deficiency of HSL did not affect glucose homeostasis in Lep+/+ background. The deficiency of HSL exacerbated the accumulation of triglycerides in Lepob/ob islets, leading to reduced glucose-stimulated insulin secretion. The deficiency of HSL also diminished the islet mass in Lepob/ob mice due to decreased cell proliferation. In conclusion, HSL affects insulin secretary capacity especially in the setting of obesity.

  20. Ferrous versus Ferric Oral Iron Formulations for the Treatment of Iron Deficiency: A Clinical Overview

    Directory of Open Access Journals (Sweden)

    Palacios Santiago

    2012-01-01

    Full Text Available Iron deficiency anaemia represents a major public health problem, particularly in infants, young children, pregnant women, and females with heavy menses. Oral iron supplementation is a cheap, safe, and effective means of increasing haemoglobin levels and restoring iron stores to prevent and correct iron deficiency. Many preparations are available, varying widely in dosage, formulation (quick or prolonged release, and chemical state (ferrous or ferric form. The debate over the advantages of ferrous versus ferric formulations is ongoing. In this literature review, the tolerability and efficacy of ferrous versus ferric iron formulations are evaluated. We focused on studies comparing ferrous sulphate preparations with ferric iron polymaltose complex preparations, the two predominant forms of iron used. Current data show that slow-release ferrous sulphate preparations remain the established and standard treatment of iron deficiency, irrespective of the indication, given their good bioavailability, efficacy, and acceptable tolerability demonstrated in several large clinical studies.

  1. Is metformin-induced vitamin B12 deficiency responsible for cognitive decline in type 2 diabetes?

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    Deepti Khattar

    2016-01-01

    Full Text Available Introduction: Diabetes mellitus has its deleterious effects on various aspects of cognition such as memory function, executive function, and information-processing speed. The present study aims to assess cognition in diabetes patients and also tries to find its association with Vitamin B12 deficiency induced by metformin. Materials and Methods: Thirty diabetics taking metformin and thirty nondiabetic controls were enrolled. Event-related potentials (ERPs and serum Vitamin B12 levels were evaluated in them. Results: Vitamin B12 levels were found to be deficient, and latencies of waves P200 and P300 were prolonged in the diabetics as compared to the controls. The dose and duration of metformin had no association with the ERPs. Conclusions: Although the Vitamin B12 levels were deficient in diabetics on metformin, this is not the reason behind the cognitive impairment found in them.

  2. Prion Protein Deficiency Causes Diverse Proteome Shifts in Cell Models That Escape Detection in Brain Tissue

    Science.gov (United States)

    Mehrabian, Mohadeseh; Brethour, Dylan; Williams, Declan; Wang, Hansen; Arnould, Hélène; Schneider, Benoit; Schmitt-Ulms, Gerold

    2016-01-01

    A popular method for studying the function of a given protein is to generate and characterize a suitable model deficient for its expression. For the prion protein (PrP), best known for its role in several invariably fatal neurodegenerative diseases, a natural choice, therefore, would be to undertake such studies with brain samples. We recently documented the surprising observation that PrP deficiency caused a loss or enhancement of NCAM1 polysialylation, dependent on the cell model used. To identify possible causes for this disparity, we set out to systematically investigate the consequence of PrP deficiency on the global proteome in brain tissue and in four distinct cell models. Here we report that PrP deficiency causes robust but surprisingly divergent changes to the global proteomes of cell models but has no discernible impact on the global brain proteome. Amongst >1,500 proteins whose levels were compared in wild-type and PrP-deficient models, members of the MARCKS protein family exhibited pronounced, yet cell model-dependent changes to their steady-state levels. Follow-up experiments revealed that PrP collaborates with members of the MARCKS protein family in its control of NCAM1 polysialylation. We conclude that the physiological function of PrP may be masked in analyses of complex brain samples but its cell-type specific influence on a lipid raft-based NCAM1-related cell biology comes to the fore in investigations of specific cell types. PMID:27327609

  3. Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.

    Science.gov (United States)

    Ding, Peipei; Li, Ling; Huang, Tianbao; Yang, Chaoqun; Xu, Enjie; Wang, Na; Zhang, Long; Gu, Hongyu; Yao, Xudong; Zhou, Xuhui; Hu, Weiguo

    2016-11-01

    As a potent effector of innate immunity, the complement system has been shown to be involved in the pathogenesis of inflammatory bowel disease (IBD). However, the role of the membrane attack complex (MAC) in the development of IBD is still largely unknown. Here, we used C6-deficient mice in which MAC formation was blocked due to the absence of C6 to develop an acute colitis model by the administration of dextran sulfate sodium (DSS). The results showed that DSS-induced colitis was aggravated in C6-deficient mice compared with wild-type (WT) mice, as represented by the markedly greater weight loss, higher disease activity index (DAI), shortened colon length, more severe histological injury with increased epithelial ulcerations, and massively increased infiltration of leukocytes accompanied by much higher myeloperoxidase (MPO) levels in local inflammatory colonic sites. In addition, the DSS-induced colitis in C6-deficient mice could be significantly ameliorated by the exogenous C6 from WT sera. Furthermore, the significantly enhanced production of pro-inflammatory mediators, including IL-1β, IL-6, CXCL-1, CCL-3, TGF-β1 and IL-17F, was also observed in C6-deficient mice. Unexpectedly, the aggravated colitis in C6-deficient mice may be not due to the increase of lipopolysaccharide (LPS) levels in serum. Overall, we demonstrated that MAC exerts a protective role in acute colitis, strongly highlighting the host defense function of the complement system. PMID:27316715

  4. Heat shock protein B1-deficient mice display impaired wound healing.

    Directory of Open Access Journals (Sweden)

    Jonathan Crowe

    Full Text Available There is large literature describing in vitro experiments on heat shock protein (hspB1 but understanding of its function in vivo is limited to studies in mice overexpressing human hspB1 protein. Experiments in cells have shown that hspB1 has chaperone activity, a cytoprotective role, regulates inflammatory gene expression, and drives cell proliferation. To investigate the function of the protein in vivo we generated hspB1-deficient mice. HspB1-deficient fibroblasts display increased expression of the pro-inflammatory cytokine, interleukin-6, compared to wild-type cells, but reduced proliferation. HspB1-deficient fibroblasts exhibit reduced entry into S phase and increased expression of cyclin-dependent kinase inhibitors p27(kip1 and p21(waf1. The expression of hspB1 protein and mRNA is also controlled by the cell cycle. To investigate the physiological function of hspB1 in regulating inflammation and cell proliferation we used an excisional cutaneous wound healing model. There was a significant impairment in the rate of healing of wounds in hspB1-deficient mice, characterised by reduced re-epithelialisation and collagen deposition but also increased inflammation. HspB1 deficiency augments neutrophil infiltration in wounds, driven by increased chemokine (C-X-C motif ligand 1 expression. This appears to be a general mechanism as similar results were obtained in the air-pouch and peritonitis models of acute inflammation.

  5. Copper Transporter 2 Content Is Lower in Liver and Heart of Copper-Deficient Rats

    Directory of Open Access Journals (Sweden)

    Jesse Bertinato

    2010-11-01

    Full Text Available Copper (Cu transporter 2 (Ctr2 is a transmembrane protein that transports Cu across cell membranes and increases cytosolic Cu levels. Experiments using cell lines have suggested that Ctr2 expression is regulated by Cu status. The importance of changes in Ctr2 expression is underscored by recent studies demonstrating that lower Ctr2 content in cells increases the cellular uptake of platinum-containing cancer drugs and toxicity to the drugs. In this study, we examined whether Ctr2 expression is altered by a nutritional Cu deficiency in vivo. Ctr2 mRNA and protein in liver and heart from rats fed a normal (Cu-N, moderately deficient (Cu-M or deficient (Cu-D Cu diet was measured. Rats fed the Cu-deficient diets showed a dose-dependent decrease in liver Ctr2 protein compared to Cu-N rats. Ctr2 protein was 42% and 85% lower in Cu-M and Cu-D rats, respectively. Liver Ctr2 mRNA was 50% lower in Cu-D rats and unaffected in Cu-M rats. In heart, Ctr2 protein was only lower in Cu-D rats (46% lower. These data show that Cu deficiency decreases Ctr2 content in vivo.

  6. Prion Protein Deficiency Causes Diverse Proteome Shifts in Cell Models That Escape Detection in Brain Tissue.

    Science.gov (United States)

    Mehrabian, Mohadeseh; Brethour, Dylan; Williams, Declan; Wang, Hansen; Arnould, Hélène; Schneider, Benoit; Schmitt-Ulms, Gerold

    2016-01-01

    A popular method for studying the function of a given protein is to generate and characterize a suitable model deficient for its expression. For the prion protein (PrP), best known for its role in several invariably fatal neurodegenerative diseases, a natural choice, therefore, would be to undertake such studies with brain samples. We recently documented the surprising observation that PrP deficiency caused a loss or enhancement of NCAM1 polysialylation, dependent on the cell model used. To identify possible causes for this disparity, we set out to systematically investigate the consequence of PrP deficiency on the global proteome in brain tissue and in four distinct cell models. Here we report that PrP deficiency causes robust but surprisingly divergent changes to the global proteomes of cell models but has no discernible impact on the global brain proteome. Amongst >1,500 proteins whose levels were compared in wild-type and PrP-deficient models, members of the MARCKS protein family exhibited pronounced, yet cell model-dependent changes to their steady-state levels. Follow-up experiments revealed that PrP collaborates with members of the MARCKS protein family in its control of NCAM1 polysialylation. We conclude that the physiological function of PrP may be masked in analyses of complex brain samples but its cell-type specific influence on a lipid raft-based NCAM1-related cell biology comes to the fore in investigations of specific cell types.

  7. Clinical utility of serum tests for iron deficiency in hospitalized patients.

    Science.gov (United States)

    Burns, E R; Goldberg, S N; Lawrence, C; Wenz, B

    1990-02-01

    Serum iron and ferritin measurements lack the requisite sensitivity and/or specificity to accurately diagnose iron deficiency. To determine their utility in hospitalized patients, the authors compared the results of these tests with the presence of stainable iron in bone marrow aspirates of 301 patients. Forty (13.3%) had absent marrow iron. The serum diagnosis of iron deficiency was accepted on the basis of the following: iron less than 11 mumol/L, total iron-binding capacity (TIBC) greater than 45 mumol/L, transferrin saturation (%Sat) less than 0.20, and ferritin less than 13 micrograms/L for females and less than 25 micrograms/L for males. Using these criteria, iron deficiency was correctly diagnosed by serum iron in 41%, TIBC in 84%, %Sat in 50%, and ferritin in 90% of the patients. The serum ferritin is clearly the only useful serum test for diagnosing iron deficiency in hospitalized patients but is limited by a low sensitivity. The bone marrow examination is the most sensitive test for diagnosing iron deficiency in hospitalized patients. PMID:2242107

  8. Characterization of the responses of cork oak (Quercus suber) to iron deficiency.

    Science.gov (United States)

    Gogorcena, Y; Molias, N; Larbi, A; Abadía, J; Abadía, A

    2001-12-01

    We studied responses of cork oak (Quercus suber L.) to iron (Fe) deficiency by comparing seedlings grown hydroponically in nutrient solution with and without Fe. Seedlings grown without Fe developed some responses typical of the Strategy I group of Fe-efficient plants, including two- and fourfold increases in plasma membrane ferric chelate reductase activity of root tips after 2 and 4 weeks of culture in the absence of Fe, respectively. Moreover, seedlings grown hydroponically for 2 weeks without Fe caused marked decreases in the pH of the nutrient solution, indicating that root plasma membrane ATPase activity was induced by Fe deficiency. Iron deficiency also caused marked decreases in leaf chlorophyll and carotenoid concentrations, and chlorophyll concentrations were decreased more than carotenoid concentrations. Iron deficiency resulted in an 8% decrease in the dark-adapted efficiency of photosystem II and a 43% decrease in efficiency of photosystem II at steady-state photosynthesis. No major root morphological changes were observed in seedlings grown without Fe, although seedlings grown in Fe-deficient nutrient solution had light-colored roots in contrast to the dark brown color of control roots.

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

    OpenAIRE

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

    2014-01-01

    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.

  10. Differences in sensitivity to DNA-damaging agents between XRCC4- and artemis-deficient human cells

    International Nuclear Information System (INIS)

    Non-homologous end-joining (NHEJ) is the predominant pathway for the repair of DNA double-strand breaks (DSBs) in human cells. XRCC4 is indispensable to NHEJ and functions together with DNA ligase IV in the rejoining of broken DNA ends. Artemis is a nuclease required for trimming of some, but not all, types of broken DNA ends prior to rejoining by the DNA ligase IV/XRCC4 complex. To better understand the roles of these factors, we generated XRCC4- and Artemis-deficient cells from the human colon adenocarcinoma cell line HCT116 by gene targeting and examined their cellular responses to several DNA-damaging agents including X-rays. As anticipated, kinetic analyses of γ-H2AX foci and chromosomal aberrations after ionizing radiation (IR) demonstrated a serious incompetence of DSB repair in the XRCC4-deficient cells, and relatively moderate impairment in the Artemis-deficient cells. The XRCC4-deficient cells were highly sensitive to etoposide and 5-fluoro-2'-deoxyuridine as well as IR, and moderately sensitive to camptothecin, methyl methanesulfonate, cisplatin, mitomycin C, aphidicolin and hydroxyurea, compared to the parental HCT116 cells. The Artemis-deficient cells were not as sensitive as the XRCC4-deficient cells, except to cisplatin and mitomycin C. By contrast, the Artemis-deficient cells were significantly more resistant to hydroxyurea than the parental cells. These observations suggest that Artemis also functions in some DNA damage response pathways other than NHEJ in human cells. (author)

  11. Comparative Advantage

    DEFF Research Database (Denmark)

    Zhang, Jie; Jensen, Camilla

    2007-01-01

    The objective of this paper is to explain international tourism flows in terms of supply-side factors associated with its production in destination countries. Unlike demand-oriented analysis, the study suggests that there are parallels between tourism and international trade flows...... that are typically explained from the supply-side variables, the comparative advantage of the exporting countries. A simple model is proposed and tested. The results render strong support for the relevance of supply-side factors such as natural endowments, technology, and infrastructure in explaining international...... tourism flows....

  12. Dengue virus type 2 (DENV2-induced oxidative responses in monocytes from glucose-6-phosphate dehydrogenase (G6PD-deficient and G6PD normal subjects.

    Directory of Open Access Journals (Sweden)

    Abdullah Ahmed Al-Alimi

    2014-03-01

    Full Text Available BACKGROUND: Dengue virus is endemic in peninsular Malaysia. The clinical manifestations vary depending on the incubation period of the virus as well as the immunity of the patients. Glucose-6-phosphate dehydrogenase (G6PD deficiency is prevalent in Malaysia where the incidence is 3.2%. It has been noted that some G6PD-deficient individuals suffer from more severe clinical presentation of dengue infection. In this study, we aim to investigate the oxidative responses of DENV2-infected monocytes from G6PD-deficient individuals. METHODOLOGY: Monocytes from G6PD-deficient individuals were infected with DENV2 and infection rate, levels of oxidative species, nitric oxide (NO, superoxide anions (O2-, and oxidative stress were determined and compared with normal controls. PRINCIPAL FINDINGS: Monocytes from G6PD-deficient individuals exhibited significantly higher infection rates compared to normal controls. In an effort to explain the reason for this enhanced susceptibility, we investigated the production of NO and O2- in the monocytes of individuals with G6PD deficiency compared with normal controls. We found that levels of NO and O2- were significantly lower in the DENV-infected monocytes from G6PD-deficient individuals compared with normal controls. Furthermore, the overall oxidative stress in DENV-infected monocytes from G6PD-deficient individuals was significantly higher when compared to normal controls. Correlation studies between DENV-infected cells and oxidative state of monocytes further confirmed these findings. CONCLUSIONS/SIGNIFICANCE: Altered redox state of DENV-infected monocytes from G6PD-deficient individuals appears to augment viral replication in these cells. DENV-infected G6PD-deficient individuals may contain higher viral titers, which may be significant in enhanced virus transmission. Furthermore, granulocyte dysfunction and higher viral loads in G6PD-deificient individuals may result in severe form of dengue infection.

  13. Vitamin and Mineral Deficiencies Are Highly Prevalent in Newly Diagnosed Celiac Disease Patients

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    Ad A. van Bodegraven

    2013-09-01

    Full Text Available Malabsorption, weight loss and vitamin/mineral-deficiencies characterize classical celiac disease (CD. This study aimed to assess the nutritional and vitamin/mineral status of current “early diagnosed” untreated adult CD-patients in the Netherlands. Newly diagnosed adult CD-patients were included (n = 80, 42.8 ± 15.1 years and a comparable sample of 24 healthy Dutch subjects was added to compare vitamin concentrations. Nutritional status and serum concentrations of folic acid, vitamin A, B6, B12, and (25-hydroxy D, zinc, haemoglobin (Hb and ferritin were determined (before prescribing gluten free diet. Almost all CD-patients (87% had at least one value below the lower limit of reference. Specifically, for vitamin A, 7.5% of patients showed deficient levels, for vitamin B6 14.5%, folic acid 20%, and vitamin B12 19%. Likewise, zinc deficiency was observed in 67% of the CD-patients, 46% had decreased iron storage, and 32% had anaemia. Overall, 17% were malnourished (>10% undesired weight loss, 22% of the women were underweight (Body Mass Index (BMI 25. Vitamin deficiencies were barely seen in healthy controls, with the exception of vitamin B12. Vitamin/mineral deficiencies were counter-intuitively not associated with a (higher grade of histological intestinal damage or (impaired nutritional status. In conclusion, vitamin/mineral deficiencies are still common in newly “early diagnosed” CD-patients, even though the prevalence of obesity at initial diagnosis is rising. Extensive nutritional assessments seem warranted to guide nutritional advices and follow-up in CD treatment.

  14. Gait adaptation in ACL deficient patients before and after anterior cruciate ligament reconstruction surgery.

    Science.gov (United States)

    Knoll, Zsolt; Kiss, Rita M; Kocsis, László

    2004-06-01

    The objective of this study is to determine how kinematical parameters and electromyography data of selected muscles may change as a result of anterior cruciate ligament (ACL) deficiency and following ACL reconstruction. The study was conducted on 25 anterior cruciate ligament deficient subjects prior to and 6 weeks, 4 months, 8 months and 12 months following ACL reconstructive surgery using the bone-patellar tendon-bone technique. Gait analysis was performed by applying the zebris three-dimensional ultrasound-based system with surface electromyograph (zebris). Kinematic data were recorded for the lower limb. The muscles surveyed include vastus lateralis and medialis, biceps femoris and adductor longus. The results obtained from the injured subjects were compared with those of 51 individuals without any ACL damage whatsoever. Acute ACL deficient patients exhibited a quadriceps avoidance pattern prior to and 6 weeks following surgery. No quadriceps avoidance phenomenon develops in chronic ACL deficient patients. In operated individuals, tempo-spatial parameters and the knee angle regained a normal pattern for the ACL-deficient limb during gait as early as 4 months following surgery. However, the relative ACL movement parameter, which describes the tibial translation into the direction of ACL, and the EMG traces show no significant statistical difference compared with the same values of the healthy control group just 8 months following surgery. The analysis of spatial-temporal parameters and EMG traces show that the development of a quadriceps avoidance pattern is less common than previously reported. These data suggest that anterior cruciate ligament deficiency and reconstruction produce considerable changes in the lower extremity gait pattern. The results suggest that gait parameters tend to shift towards a normal value pattern; and the re-establishment of pre-injury gait patterns-including the normal biphase of muscles-takes at least 8 months to occur.

  15. Iron Deficiency and Iron-deficiency Anemia in Toddlers Ages 18 to 36 Months: A Prospective Study.

    Science.gov (United States)

    Levin, Carina; Harpaz, Shira; Muklashi, Isam; Lumelsky, Nadia; Komisarchik, Ina; Katzap, Ilia; Abu Hanna, Manhal; Koren, Ariel

    2016-04-01

    In young children, iron deficiency (ID)-the most common cause of anemia-may adversely affect long-term neurodevelopment and behavior. We prospectively evaluated the prevalence of ID and iron deficiency anemia (IDA) in 256 healthy 18- to 36-month-old children in Northern Israel. Complete blood count and ferritin evaluation were performed, and risk factors were assessed. Hemoglobin (Hgb) was compared with first-year routine screening. Complete data were obtained from 208 children: 56.2% were boys; the mean age was 26.1±5.27 months. A prevalence of 5.8% IDA, 16.3% ID without anemia, 9.6% anemia with normal ferritin, and 68.3% normal Hgb and ferritin was found. In nonanemic infants at 1 year of age (n=156), ID/IDA was found in 19.9%, and 12.8% became anemic at study evaluation. Despite iron supplementation in the first year, and normal Hgb at first-year screening, ID and IDA were still prevalent, and might develop during the second year of life. Recognition of this child subset and consideration of iron supplementation are mandatory.

  16. Iron deficiency anemia from diagnosis to treatment in children.

    Science.gov (United States)

    Özdemir, Nihal

    2015-03-01

    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

  17. Relationship between unexplained arthralgia and vitamin D deficiency: a case control study.

    Directory of Open Access Journals (Sweden)

    Behzad Heidari

    2014-05-01

    Full Text Available Arthralgia is a common presenting symptom of many rheumatic diseases. Vitamin D deficiency may lead to progression of skeletal symptoms to definite disease in susceptible subjects. This study was conducted to determine the relationship between vitamin D deficiency and unexplained arthralgia. Patients with arthralgia not related to a definite clinical condition were selected prospectively among subjects presented to a rheumatology clinic. Serum 25-hydroxyvitamin D (25-OHD was measured by ELISA method and levels less than 20 ng/ml were considered as deficient levels. Serum 25-OHD levels and proportion of 25-OHD deficiency was compared in patients versus control. The association of serum 25-OHD and arthralgia was assessed by calculation of odds ratio (OR using regression analysis. 167 patients with mean age of 38 ± 13.3 and 283 controls with mean age of 42.6±14.37 years (P=0.001 were studied. In patients mean serum 25-OHD was lower and proportion of deficiency was higher (P=0.001 for both.Serum 25-OHD deficiency was associated with 3.01 times increased risk of arthralgia (OR=3.01, 95% CI, 2.0- 4.25, P=0.001. After adjusment for age and sex, the risk of arthralgia remained significan at OR= 2.71(95%CI, 1.79-4.11,P=0.001.The odds of arthralgia decreased with increasing serum 25-OHD from OR=3.48 (95% CI,197-6,P=0.001 at serum <10 ng/ml to 3.39 (95%CI,1.93-5.98, P=0.001 at 10-19.9; and 1.31 (95%CI, 0.69-2.5, P=0.42 at 20-29.9 ng/ml. These findings indicate significant association of vitamin D deficiency and arthralgia. Regarding vitamin D deficiency as an environmental factor for development or progression of rheumatic diseases, this study justifies identification and correction of vitamin D deficiency in patients with arthralgia.

  18. Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.

    Science.gov (United States)

    Gelbart, David

    2014-04-01

    Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. Although studies are elaborating on the genetic basis for its associated comorbidities, little has been published comparing this anemia to other chronic anemias that have similar laboratory results in children. This article offers a global perspective of the disease and compares it with anemia due to vitamin B12 and folate deficiency in children.

  19. Effect of Dietary Selenium Deficiency on the Cell Apoptosis and the Level of Thyroid Hormones in Chicken.

    Science.gov (United States)

    Huang, Yunmao; Li, Wanyan; Xu, Danning; Li, Bingxin; Tian, Yunbo; Zan, Linsen

    2016-06-01

    This study assessed the effect of dietary selenium (Se) deficiency on male reproductive function in chicken. A total of 180 Hy-line laying cocks (1 day old; Weiwei) were randomly divided into 2 groups (n = 90) of Se-deficient chickens and control chickens. The control group was fed a basic diet (containing 0.15 mg of Se/kg). The Se-deficient group was fed a Se-deficient corn-soy basal diet (containing 0.033 mg of Se/kg). Fifteen chickens were killed in each group on days 30, 60, and 90, respectively. Then, serum and testes were collected and used in the detection of experimental index. Results indicated that GSH-Px activity and Bcl-2 mRNA level in the testes and thyroidal triiodothyronine (T3) and free triiodothyronine (FT3) levels in serum by dietary Se deficiency were significantly decreased compared to the corresponding control groups. Se deficiency-treated group showed a significant increase in MDA concent, TUNEL-positive cells, and mRNA level of Bax, Caspase3, and p53 in the testes and thyroidal thyroxine (T4), free thyroxine (FT4), and thyroid-stimulating hormone (TSH) levels in serum. Histopathologically, Se deficiency caused impairments in the testes. These results suggested that dietary Se deficiency exerts significant harmful effects on male reproductive organ and that the intrinsic and extrinsic pathways and the upstream regulators such as p53, Bax, and Bcl-2 were all involved in Se deficiency-induced testicular apoptosis. PMID:26507440

  20. THE IMPACT OF IRON DEFICIENCY ON HBA2 LEVEL IN BETA THALASSEMIA MINOR IN SULAIMANI NORTHEASTERN IRAQ

    Directory of Open Access Journals (Sweden)

    Awaz Ahmed Kamal

    2015-11-01

    Full Text Available Background: HbA2 plays a key role in screening programs for beta thalassemia because a small increase in this fraction is the most important marker of beta thalassemia heterozygous carriers. The potential impact of coincident iron deficiency on HbA2 based identification of beta thalassemia minor is worrisome issue for screening laboratories, this is especially true for resource-constrained settings where iron deficiency is wide spread and molecular confirmatory tests for borderline HbA2 values may be unavailable. Objective: the aim of this study is to evaluate the effect of iron deficiency on HbA2 level in order to improve the detection of beta thalassemia trait with or without iron deficiency in our population. Materials and Method: In this study 145 individuals were enrolled including normal controls (50, beta thalassemia minor (50 and coincident beta thalassemia with iron deficiency cases (45. Complete blood count, serum iron, total iron binding capacity and HbA2 with HbF estimation were done for every individual. Result: The mean HbA2 level was (2.4± 0.4 in control, (5.2 ± 0.9 in beta thalassemia minor and 5.1± 0.9 in coincident iron deficiency with beta thalassemia minors. All hematological parameters were significantly lower in beta thalassemia minor and coincident iron deficiency with beta thalassemia minor in comparison to the control group .Mean HbA2 level did not show a significant difference in thalassemia minor (5.2±0.9 when compared with the mean HbA2 levels in coincidentiron deficiency with beta thalassemia minor. Conclusion: The presence of iron deficiency did not preclude the detection of beta thalassemia minor in our population

  1. Vitamin A-Deficient Diet Accelerated Atherogenesis in Apolipoprotein E−/− Mice and Dietary β-Carotene Prevents This Consequence

    Directory of Open Access Journals (Sweden)

    Noa Zolberg Relevy

    2015-01-01

    Full Text Available Vitamin A is involved in regulation of glucose concentrations, lipid metabolism, and inflammation, which are major risk factors for atherogenesis. However, the effect of vitamin A deficiency on atherogenesis has not been investigated. Therefore, the objective of the current study was to examine whether vitamin A deficiency accelerates atherogenesis in apolipoprotein E-deficient mice (apoE−/−. ApoE−/− mice were allocated into the following groups: control, fed vitamin A-containing chow diet; BC, fed chow diet fortified with Dunaliella powder containing βc isomers; VAD, fed vitamin A-deficient diet; and VAD-BC group, fed vitamin A-deficient diet fortified with a Dunaliella powder. Following 15 weeks of treatment, liver retinol concentration had decreased significantly in the VAD group to about 30% that of control group. Vitamin A-deficient diet significantly increased both plasma cholesterol concentrations and the atherosclerotic lesion area at the aortic sinus (+61% compared to the control group. Dietary βc fortification inhibited the elevation in plasma cholesterol and retarded atherogenesis in mice fed the vitamin A-deficient diet. The results imply that dietary vitamin A deficiency should be examined as a risk factor for atherosclerosis and that dietary βc, as a sole source of retinoids, can compensate for vitamin A deficiency.

  2. Vitamin A-Deficient Diet Accelerated Atherogenesis in Apolipoprotein E−/− Mice and Dietary β-Carotene Prevents This Consequence

    Science.gov (United States)

    Relevy, Noa Zolberg; Harats, Dror; Harari, Ayelet; Ben-Amotz, Ami; Bitzur, Rafael; Rühl, Ralph; Shaish, Aviv

    2015-01-01

    Vitamin A is involved in regulation of glucose concentrations, lipid metabolism, and inflammation, which are major risk factors for atherogenesis. However, the effect of vitamin A deficiency on atherogenesis has not been investigated. Therefore, the objective of the current study was to examine whether vitamin A deficiency accelerates atherogenesis in apolipoprotein E-deficient mice (apoE−/−). ApoE−/− mice were allocated into the following groups: control, fed vitamin A-containing chow diet; BC, fed chow diet fortified with Dunaliella powder containing βc isomers; VAD, fed vitamin A-deficient diet; and VAD-BC group, fed vitamin A-deficient diet fortified with a Dunaliella powder. Following 15 weeks of treatment, liver retinol concentration had decreased significantly in the VAD group to about 30% that of control group. Vitamin A-deficient diet significantly increased both plasma cholesterol concentrations and the atherosclerotic lesion area at the aortic sinus (+61%) compared to the control group. Dietary βc fortification inhibited the elevation in plasma cholesterol and retarded atherogenesis in mice fed the vitamin A-deficient diet. The results imply that dietary vitamin A deficiency should be examined as a risk factor for atherosclerosis and that dietary βc, as a sole source of retinoids, can compensate for vitamin A deficiency. PMID:25802864

  3. Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries

    DEFF Research Database (Denmark)

    Hasselt, P.M. van; Koning, T.J. de; Vries, E. de;

    2008-01-01

    OBJECTIVE: Newborns routinely receive vitamin K to prevent vitamin K deficiency bleeding. The efficacy of oral vitamin K administration may be compromised in infants with unrecognized cholestasis. We aimed to compare the risk of vitamin K deficiency bleeding under different prophylactic regimens...... in infants with biliary atresia. PATIENTS AND METHODS: From Dutch and Danish national biliary atresia registries, we retrieved infants who were either breastfed and received 1 mg of oral vitamin K at birth followed by 25 microg of daily oral vitamin K prophylaxis (Netherlands, 1991-2003), 2 mg of oral...... vitamin K at birth followed by 1 mg of weekly oral prophylaxis (Denmark, 1994 to May 2000), or 2 mg of intramuscular prophylaxis at birth (Denmark, June 2000-2005) or were fed by formula. We determined the absolute and relative risk of severe vitamin K deficiency and vitamin K deficiency bleeding...

  4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso

    Institute of Scientific and Technical Information of China (English)

    Abdoul Karim Ouattara; Cyrille Bisseye; Birama Diarra; Tegwind Rebeca Compaore; Florencia Djigma; Virginio Pietra; Remy Moret; Jacques Simpore

    2014-01-01

    Objective: To investigate 4 combinations of mutations responsible for glucose-6-phosphate dehydrogenase (G6PD) deficiency in a rural community of Burkina Faso, a malaria endemic country. Methods: Two hundred individuals in a rural community were genotyped for the mutations A376G, G202A, A542T, G680T and T968C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism. Results: The prevalence of the G6PD deficiency was 9.5% in the study population. It was significantly higher in men compared to women (14.3%vs 6.0%, P=0.049). The 202A/376G G6PD A-was the only deficient variant detected. Plasmodium falciparum asymptomatic parasitaemia was significantly higher among the G6PD-non-deficient persons compared to the G6PD-deficient (P Conclusions:This study showed that the G6PD A-variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.

  5. Pyridoxine deficiency in adult patients with status epilepticus.

    Science.gov (United States)

    Dave, Hina N; Eugene Ramsay, Richard; Khan, Fawad; Sabharwal, Vivek; Irland, Megan

    2015-11-01

    An 8-year-old girl treated at our facility for superrefractory status epilepticus was found to have a low pyridoxine level at 5 μg/L. After starting pyridoxine supplementation, improvement in the EEG for a 24-hour period was seen. We decided to look at the pyridoxine levels in adult patients admitted with status epilepticus. We reviewed the records on patients admitted to the neurological ICU for status epilepticus (SE). Eighty-one adult patients were identified with documented pyridoxine levels. For comparison purposes, we looked at pyridoxine levels in outpatients with epilepsy (n=132). Reported normal pyridoxine range is >10 ng/mL. All but six patients admitted for SE had low normal or undetectable pyridoxine levels. A selective pyridoxine deficiency was seen in 94% of patients with status epilepticus (compared to 39.4% in the outpatients) which leads us to believe that there is a relationship between status epilepticus and pyridoxine levels.

  6. Game Over Interdependent Networks: Rationality Makes the System Inherent Deficient

    CERN Document Server

    Fan, Yuhang; He, Shibo; Chen, Jiming; Sun, Youxian

    2016-01-01

    Many real-world systems are composed of interdependent networks that rely on one another. Such networks are typically designed and operated by different entities, who aim at maximizing their own interest. In this paper, we study the game over interdependent networks, investigating how the rational behaviors of entities impact the whole system. We first introduce a mathematical model to quantify the interacting payoffs among varying entities. Then we study the Nash equilibrium and compare it with the optimal social welfare. We reveal that the cooperation between different entities can be reached to maximize the social welfare only when the average degree of each network is constant. Otherwise, there may be a huge gap between the Nash equilibrium and optimal social welfare. Therefore, the rationality of different entities that operates these networks makes the system inherently deficient and even extremely vulnerable in some cases. Furthermore, we uncover some factors (such as weakening coupled strength of inte...

  7. [GPI-Pr Deficiency and Apoptosis of PNH Granulocytes

    Science.gov (United States)

    Liu, Hai-Li; Xu, Cai-Min; Liu, Fu-Qiang; Lu, Zhao-Jiang; Pan, Hua-Zhen; Zhang, Zhi-Nan

    2001-09-01

    To study the relationship of Glycosyl phosphatidylinositol anchored proteins (GIP-Pr) and apoptosis of paroxysmal nocturnal hemoglobinuria (PNH) cells, we isolated peripheral granulocytes from 10 patients with PNH and 10 normal controls and measured apoptosis induced by serum starvation. The FCM analysis of phosphotidylserine (ps) externalization in granulocytes was determined using Annexin-V-FLUOS labeling. After the cells were induced for apoptosis in serum-free medium for 20 hours, the percentage of externalization was 78.6% in normal control cells but 39.5% in PNH cells. The results of FCM analysis of PI stained granulocytes showed that the PI positive rate was 51.5% in control cells and 30.2% in PNH cells. The gel electrophoresis analysis of DNA fragmentation all indicate that PNH granulocytes were relatively resistant to apoptosis as compared with normal controls. This resistance to apoptosis might not be related to the percentage of CD59 deficient granulocytes. PMID:12578597

  8. 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.

  9. Vitamin D deficiency at pediatric intensive care admission

    Directory of Open Access Journals (Sweden)

    Corsino Rey

    2014-04-01

    Full Text Available OBJECTIVE:to assess whether 25hydroxivitaminD or 25(OHvitD deficiency has a high prevalence at pediatric intensive care unit (PICU admission, and whether it is associated with increased prediction of mortality risk scores.METHOD:prospective observational study comparing 25(OHvitD levels measured in 156 patients during the 12 hours after critical care admission with the 25(OHvitD levels of 289 healthy children. 25(OHvitD levels were also compared between PICU patients with pediatric risk of mortality III (PRISM III or pediatric index of mortality 2 (PIM 2 > p75 [(group A; n = 33 vs. the others (group B; n = 123]. Vitamin D deficiency was defined as < 20 ng/mL levels.RESULTS:median (p25-p75 25(OHvitD level was 26.0 ng/mL (19.2-35.8 in PICU patients vs. 30.5 ng/mL (23.2-38.6 in healthy children (p = 0.007. The prevalence of 25(OHvitD < 20 ng/mL was 29.5% (95% CI: 22.0-37.0 vs. 15.6% (95% CI: 12.2-20.0 (p = 0.01. Pediatric intensive care patients presented an odds ratio (OR for hypovitaminosis D of 2.26 (CI 95%: 1.41-3.61. 25(OHvitD levels were 25.4 ng/mL (CI 95%: 15.5-36.0 in group A vs. 26.6 ng/mL (CI 95%: 19.3-35.5 in group B (p = 0.800.CONCLUSIONS:hypovitaminosis D incidence was high in PICU patients. Hypovitaminosis D was not associated with higher prediction of risk mortality scores.

  10. Matrine ameliorates spontaneously developed colitis in interleukin-10-deficient mice.

    Science.gov (United States)

    Wu, Cong; Xu, Zheng; Gai, Renhua; Huang, Kehe

    2016-07-01

    Interleukin-10 (IL-10)-deficient mice spontaneously develop T cell-mediated colitis. Previous reports have shown that Matrine may reduce the symptoms of acute colitis induced by trinitrobenzene sulfonic acid (TNBS). However, whether Matrine impacts chronic colitis remains unknown. In this study, we investigated whether Matrine could limit the symptoms of spontaneously developed colitis and its potential molecular mechanisms. IL-10 deficient mice were given Matrine or a PBS control by oral gavage daily for 4weeks and were euthanized at week 2 or week 4. We measured body weight, colon length and weight, and histological scores. We also evaluated the spontaneous secretion of IL-12/23p40, IFN-γ and IL-17 in colon explant cultures as well as IFN-γ and IL-17 secretion in unseparated mesenteric lymph node (MLN) cells, and assessed IFN-γ, IL-17, IL-1β and IL-6 mRNA expression in colon tissue. In addition, we analyzed the proportions of CD4-positive and CD8-positive cells in unseparated MLN cells. Our results show that Matrine-treated mice exhibited better body weight recovery than controls and that histological scores and spontaneously secreted IL-12/23p40, IFN-γ and IL-17 in colon tissue were significantly decreased in treated mice compared with controls. The proportion of CD4-positive cells of MLNs in treated mice was significantly smaller than that in controls at week 4. Both cytokine production and mRNA expression of IFN-γ and IL-17 were significantly reduced in treated mice compared with controls. Taken together, our results indicate that Matrine may ameliorate spontaneously developed chronic colitis and could be considered as a therapeutic alternative for chronic colitis.

  11. 5-Lipoxygenase Deficiency Reduces Acetaminophen-Induced Hepatotoxicity and Lethality

    Directory of Open Access Journals (Sweden)

    Miriam S. N. Hohmann

    2013-01-01

    Full Text Available 5-Lipoxygenase (5-LO converts arachidonic acid into leukotrienes (LTs and is involved in inflammation. At present, the participation of 5-LO in acetaminophen (APAP-induced hepatotoxicity and liver damage has not been addressed. 5-LO deficient (5-LO-/- mice and background wild type mice were challenged with APAP (0.3–6 g/kg or saline. The lethality, liver damage, neutrophil and macrophage recruitment, LTB4, cytokine production, and oxidative stress were assessed. APAP induced a dose-dependent mortality, and the dose of 3 g/kg was selected for next experiments. APAP induced LTB4 production in the liver, the primary target organ in APAP toxicity. Histopathological analysis revealed that 5-LO-/- mice presented reduced APAP-induced liver necrosis and inflammation compared with WT mice. APAP-induced lethality, increase of plasma levels of aspartate aminotransferase and alanine aminotransferase, liver cytokine (IL-1β, TNF-α, IFN-γ, and IL-10, superoxide anion, and thiobarbituric acid reactive substances production, myeloperoxidase and N-acetyl-β-D-glucosaminidase activity, Nrf2 and gp91phox mRNA expression, and decrease of reduced glutathione and antioxidant capacity measured by 2,2′-azinobis(3-ethylbenzothiazoline 6-sulfonate assay were prevented in 5-LO-/- mice compared to WT mice. Therefore, 5-LO deficiency resulted in reduced mortality due to reduced liver inflammatory and oxidative damage, suggesting 5-LO is a promising target to reduce APAP-induced lethality and liver inflammatory/oxidative damage.

  12. 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.

  13. Glucose-6-phosphate dehydrogenase (G6PD-deficient epithelial cells are less tolerant to infection by Staphylococcus aureus.

    Directory of Open Access Journals (Sweden)

    Yi-Ting Hsieh

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a key enzyme in the pentose phosphate pathway and provides reducing energy to all cells by maintaining redox balance. The most common clinical manifestations in patients with G6PD deficiency are neonatal jaundice and acute hemolytic anemia. The effects of microbial infection in patients with G6PD deficiency primarily relate to the hemolytic anemia caused by Plasmodium or viral infections and the subsequent medication that is required. We are interested in studying the impact of bacterial infection in G6PD-deficient cells. G6PD knock down A549 lung carcinoma cells, together with the common pathogen Staphylococcus aureus, were employed in our cell infection model. Here, we demonstrate that a lower cell viability was observed among G6PD-deficient cells when compared to scramble controls upon bacterial infection using the MTT assay. A significant increase in the intracellular ROS was detected among S. aureus-infected G6PD-deficient cells by observing dichlorofluorescein (DCF intensity within cells under a fluorescence microscope and quantifying this signal using flow cytometry. The impairment of ROS removal is predicted to enhance apoptotic activity in G6PD-deficient cells, and this enhanced apoptosis was observed by annexin V/PI staining under a confocal fluorescence microscope and quantified by flow cytometry. A higher expression level of the intrinsic apoptotic initiator caspase-9, as well as the downstream effector caspase-3, was detected by Western blotting analysis of G6PD-deficient cells following bacterial infection. In conclusion, we propose that bacterial infection, perhaps the secreted S. aureus α-hemolysin in this case, promotes the accumulation of intracellular ROS in G6PD-deficient cells. This would trigger a stronger apoptotic activity through the intrinsic pathway thereby reducing cell viability when compared to wild type cells.

  14. Molecular basis of hereditary C3 deficiency.

    OpenAIRE

    Botto, M.; Fong, K. Y.; So, A K; Rudge, A; Walport, M.J. (Mark J.)

    1990-01-01

    Hereditary deficiency of complement component C3 in a 10-yr-old boy was studied. C3 could not be detected by RIA of serum from the patient. Segregation of C3 S and C3 F allotypes within the family confirmed the presence of a null gene for C3, for which the patient was homozygous. 30 exons have been characterized, spanning the entire beta chain of C3 and the alpha chain as far as the C3d region. Sequence analysis of the exons derived from the C3 null gene showed no abnormalities in the coding ...

  15. Selective deficiency of immunoglobulin A2.

    OpenAIRE

    van Loghem, E; Zegers, B J; Bast, E J; KATER, L

    1983-01-01

    A case of familial selective IgA2 deficiency is described. The mother had no detectable IgA2, but a low level of IgA1. She had anti-alpha 2 antibodies of the IgG class. One of her daughters also lacked IgA2 with a normal level of IgA1. The analysis of the immunoglobulin haplotypes of the family suggested the deletion of the alpha 2-gene. In addition, the analysis of B lymphocytes of mother and daughter showed the absence of IgA2-bearing cells. Upon stimulation with pokeweed mitogen, the B cel...

  16. 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.

  17. 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...... identified in the National Patient Registry. Lag time until first admission was used as a measure of morbidity. Patients were divided into childhood onset (CO) and adult onset (AO), discriminated by an age cut-off of 18 years at onset of GHD. Method: Sex- and cause-specific hazard ratios (HRs) in CO and AO...

  18. Repair deficient and hypersensitive diseases of man

    International Nuclear Information System (INIS)

    Many diseases are hypersensitive to DNA damaging agents but only xeroderma pigmentosum is consistently DNA repair deficient. Groups A to G exhibit reduction in excision of pyrimidine dimers and other lesions, the variant and alteration in polymerization or ligation. Pulse chase experiments indicate that excision defective and variant cells suffer increased blocking of replication forks during semiconservative replication after irradiation; but later bypass of such blocks is completely normal in all cell types. Thus, the variant is not defective in ''post-replication repair,'' and even the definition of such a system comes under question. (author)

  19. Symptomatic zinc deficiency in experimental zinc deprivation.

    OpenAIRE

    Taylor, C M; Goode, H F; Aggett, P J; Bremner, I; Walker, B E; Kelleher, J.

    1992-01-01

    An evaluation of indices of poor zinc status was undertaken in five male subjects in whom dietary zinc intake was reduced from 85 mumol d-1 in an initial phase of the study to 14 mumol d-1. One of the subjects developed features consistent with zinc deficiency after receiving the low zinc diet for 12 days. These features included retroauricular acneform macullo-papular lesions on the face, neck, and shoulders and reductions in plasma zinc, red blood cell zinc, neutrophil zinc and plasma alkal...

  20. Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease.

    Science.gov (United States)

    Luz, Paola Rosa; Miyazaki, Márcia I; Chiminacio Neto, Nelson; Padeski, Marcela C; Barros, Ana Cláudia M; Boldt, Angelica B W; Messias-Reason, Iara J

    2016-01-01

    Chagas disease (CD) is caused by Trypanosoma cruzi, whose sugar moieties are recognized by mannan binding lectin (MBL), a soluble pattern-recognition molecule that activates the lectin pathway of complement. MBL levels and protein activity are affected by polymorphisms in the MBL2 gene. We sequenced the MBL2 promoter and exon 1 in 196 chronic CD patients and 202 controls. The MBL2*C allele, which causes MBL deficiency, was associated with protection against CD (P = 0.007, OR = 0.32). Compared with controls, genotypes with this allele were completely absent in patients with the cardiac form of the disease (P = 0.003). Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07). Among the patients, those with alleles causing MBL deficiency presented lower levels of cytokines and chemokines possibly implicated in symptom development (IL9, p = 0.013; PDGFB, p = 0.036 and RANTES, p = 0.031). These findings suggest a protective effect of genetically determined MBL deficiency against the development and progression of chronic CD cardiomyopathy.

  1. Vitamin D deficiency at admission is not associated with 90-day mortality in patients with severe sepsis or septic shock: Observational FINNAKI cohort study.

    Science.gov (United States)

    Ala-Kokko, Tero I; Mutt, Shivaprakash J; Nisula, Sara; Koskenkari, Juha; Liisanantti, Janne; Ohtonen, Pasi; Poukkanen, Meri; Laurila, Jouko J; Pettilä, Ville; Herzig, Karl-Heinz

    2016-01-01

    Introduction Low levels of vitamin D have been associated with increased mortality in patients that are critically ill. This study explored whether vitamin D levels were associated with 90-day mortality in severe sepsis or septic shock. Methods Plasma vitamin D levels were measured on admission to the intensive care unit (ICU) in a prospective multicentre observational study. Results 610 patients with severe sepsis were included; of these, 178 (29%) had septic shock. Vitamin D deficiency (D deficiency (28.3% vs. 28.5%, p = 0.789). Diabetes was more common among patients deficient compared to those not deficient in vitamin D (30% vs. 18%, p D deficiency (31% vs. 16%, p D levels could not predict 90-day mortality ( 0.9; and D deficiency detected upon ICU admission was not associated with 90-day mortality in patients with severe sepsis or septic shock. Key messages In severe sepsis and septic shock, a vitamin D deficiency upon ICU admission was not associated with increased mortality. Compared to patients with sufficient vitamin D, patients with deficient vitamin D more frequently exhibited diabetes, elevated C-reactive protein levels, and hospital-acquired infections upon ICU admission, and they more frequently developed acute kidney injury.

  2. Deficiência de alfa-1 antitripsina: diagnóstico e tratamento Alpha-1 antitrypsin deficiency: diagnosis and treatment

    OpenAIRE

    Aquiles A Camelier; Daniel Hugo Winter; José Roberto Jardim; Carlos Eduardo Galvão Barboza; Alberto Cukier; Marc Miravitlles

    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...

  3. MSH3-deficiency initiates EMAST without oncogenic transformation of human colon epithelial cells.

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    Christoph Campregher

    Full Text Available BACKGROUND/AIM: Elevated microsatellite instability at selected tetranucleotide repeats (EMAST is a genetic signature in certain cases of sporadic colorectal cancer and has been linked to MSH3-deficiency. It is currently controversial whether EMAST is associated with oncogenic properties in humans, specifically as cancer development in Msh3-deficient mice is not enhanced. However, a mutator phenotype is different between species as the genetic positions of repetitive sequences are not conserved. Here we studied the molecular effects of human MSH3-deficiency. METHODS: HCT116 and HCT116+chr3 (both MSH3-deficient and primary human colon epithelial cells (HCEC, MSH3-wildtype were stably transfected with an EGFP-based reporter plasmid for the detection of frameshift mutations within an [AAAG]17 repeat. MSH3 was silenced by shRNA and changes in protein expression were analyzed by shotgun proteomics. Colony forming assay was used to determine oncogenic transformation and double strand breaks (DSBs were assessed by Comet assay. RESULTS: Despite differential MLH1 expression, both HCT116 and HCT116+chr3 cells displayed comparable high mutation rates (about 4×10(-4 at [AAAG]17 repeats. Silencing of MSH3 in HCECs leads to a remarkable increased frameshift mutations in [AAAG]17 repeats whereas [CA]13 repeats were less affected. Upon MSH3-silencing, significant changes in the expression of 202 proteins were detected. Pathway analysis revealed overexpression of proteins involved in double strand break repair (MRE11 and RAD50, apoptosis, L1 recycling, and repression of proteins involved in metabolism, tRNA aminoacylation, and gene expression. MSH3-silencing did not induce oncogenic transformation and DSBs increased 2-fold. CONCLUSIONS: MSH3-deficiency in human colon epithelial cells results in EMAST, formation of DSBs and significant changes of the proteome but lacks oncogenic transformation. Thus, MSH3-deficiency alone is unlikely to drive human colon

  4. Metabolite profiling of Arabidopsis seedlings in response to exogenous sinalbin and sulfur deficiency.

    Science.gov (United States)

    Zhang, Jixiu; Sun, Xiumei; Zhang, Zhiping; Ni, Yuwen; Zhang, Qing; Liang, Xinmiao; Xiao, Hongbin; Chen, Jiping; Tokuhisa, James G

    2011-10-01

    In order to determine how plant uptake of a sulfur-rich secondary metabolite, sinalbin, affects the metabolic profile of sulfur-deficient plants, gas chromatography time-of-flight mass spectrometry (GC-TOF-MS), in combination with liquid chromatography-mass spectrometry (LC-MS), was used to survey the metabolome of Arabidopsis seedlings grown in nutrient media under different sulfur conditions. The growth media had either sufficient inorganic sulfur for normal plant growth or insufficient inorganic sulfur in the presence or absence of supplementation with organic sulfur in the form of sinalbin (p-hydroxybenzylglucosinolate). A total of 90 metabolites were identified by GC-TOF-MS and their levels were compared across the three treatments. Of the identified compounds, 21 showed similar responses in plants that were either sulfur deficient or sinalbin supplemented compared to sulfur-sufficient plants, while 12 metabolites differed in abundance only in sulfur-deficient plants. Twelve metabolites accumulated to higher levels in sinalbin-supplemented than in the sulfur-sufficient plants. Secondary metabolites such as flavonol conjugates, sinapinic acid esters and glucosinolates, were identified by LC-MS and their corresponding mass fragmentation patterns were determined. Under sinalbin-supplemented conditions, sinalbin was taken up by Arabidopsis and contributed to the endogenous formation of glucosinolates. Additionally, levels of flavonol glycosides and sinapinic acid esters increased while levels of flavonol diglycosides with glucose attached to the 3-position were reduced. The exogenously administered sinalbin resulted in inhibition of root and hypocotyl growth and markedly influenced metabolite profiles, compared to control and sulfur-deficient plants. These results indicate that, under sulfur deficient conditions, glucosinolates can be a sulfur source for plants. This investigation defines an opportunity to elucidate the mechanism of glucosinolate degradation in

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

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    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.

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

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    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.

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

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    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.

  8. Low Phosphorus Tolerance Mechanisms: Phosphorus Recycling and Photosynthate Partitioning in the Tropical Forage Grass, Brachiaria Hybrid cultivar Mulato Compared with Rice

    OpenAIRE

    Nanamori, Masahiko; Shinano, Takuro; Wasaki, Jun; Yamamura, Takuya; Rao, Idupulapati M.; Osaki, Mitsuru

    2004-01-01

    The Brachiaria hybrid cv. Mulato is well adapted to low-fertility acid soils deficient in phosphorus (P). To study the grassy forage’s mechanisms for tolerating low P supply, we compared it with rice (Oryza sativa L. cv. Kitaake). We tested by using nutrient solution cultures, and quantified the effects of P deficiency on the enzymatic activities of phosphohydrolases and on carbon metabolism in P-deficient leaves. While P deficiency markedly induced activity of phosphohydrolases in both crop...

  9. Pannexin 1 deficiency can induce hearing loss.

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    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.

  10. Vitamin D deficiency in chronic idiopathic urticaria.

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    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.

  11. 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.

  12. 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.

  13. [Alpha-1 antitrypsin deficiency: diagnosis and treatment].

    Science.gov (United States)

    Camelier, Aquiles A; Winter, Daniel Hugo; Jardim, José Roberto; Barboza, Carlos Eduardo Galvão; Cukier, Alberto; Miravitlles, Marc

    2008-07-01

    Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The mutation most commonly associated with the clinical disease is the Z allele, which causes polymerization and accumulation within hepatocytes. The accumulation of and the consequent reduction in the serum levels of alpha-1 antitrypsin cause, respectively, liver and lung disease, the latter occurring mainly as early emphysema, predominantly in the lung bases. Diagnosis involves detection of low serum levels of alpha-1 antitrypsin as well as phenotypic confirmation. In addition to the standard treatment of chronic obstructive pulmonary disease, specific therapy consisting of infusion of purified alpha-1 antitrypsin is currently available. The clinical efficacy of this therapy, which appears to be safe, has yet to be definitively established, and its cost-effectiveness is also a controversial issue that is rarely addressed. Despite its importance, in Brazil, there are no epidemiological data on the prevalence of the disease or the frequency of occurrence of deficiency alleles. Underdiagnosis has also been a significant limitation to the study of the disease as well as to appropriate treatment of patients. It is hoped that the creation of the Alpha One International Registry will resolve these and other important issues. PMID:18695797

  14. Non haematological effects of iron deficiency - A perspective

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    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. CORD SERUM FERRITIN AS BIOCHEMICAL MARKER IN IRON DEFICIENCY ANEMIA

    OpenAIRE

    Sherin; Jyothy

    2014-01-01

    Iron deficiency anemia is by far the most frequent type of anemia seen in pregnancy, accounting for 90% or more of all cases. Iron deficiency anemia has adverse consequences on infant development. Therefore maternal anemia should be prevented and treated. Serum ferritin is the single best non-invasive test and is a very useful and reliable index of iron stores especially during pregnancy, with low levels indicating iron deficiency. While infants born to anemic mother are ...

  17. Neuro-regression in vitamin B12 deficiency

    OpenAIRE

    Agrawal, Sanwar; Nathani, Shweta

    2009-01-01

    Neuroregression in infants has varied aetiology and vitamin B12 deficiency is one of the uncommon causes. Infantile vitamin B12 deficiency is encountered in malnourished infants or in offspring of strict vegan mothers. We present two cases, both infants of 10 and 8 months of age, whose mothers had vitamin B12 deficiency. On admission, the patients were apathic, hypotonic and lethargic. Serum vitamin B12 levels were below normal limits. On cranial MRI, T2-weighted images revealed frontoparieta...

  18. Index formulas and charge deficiencies on the Landau levels

    Science.gov (United States)

    Goffeng, Magnus

    2010-02-01

    The notion of charge deficiency by Avron et al. ["Charge deficiency, charge transport and comparison of dimensions," Commun. Math. Phys. 159, 399 (1994)] is studied from the view of K-theory of operator algebras and is applied to the Landau levels in R2n. We calculate the charge deficiencies at the higher Landau levels in R2n by means of an Atiyah-Singer-type index theorem.

  19. Relative nutritional deficiencies associated with centrally acting monoamines

    OpenAIRE

    Hinz M; Stein A; Uncini T

    2012-01-01

    Marty Hinz1, Alvin Stein2, Thomas Uncini31Clinical Research, NeuroResearch Clinics Inc, Cape Coral, 2Stein Orthopedic Associates, Plantation, FL, 3DBS Labs, Duluth, MN, USABackground: Two primary categories of nutritional deficiency exist. An absolute nutritional deficiency occurs when nutrient intake is not sufficient to meet the normal needs of the system, and a relative nutritional deficiency exists when nutrient intake and systemic levels of nutrients are normal, while a change occurs in ...

  20. Iron deficiency anemia: current strategies for the diagnosis and management

    OpenAIRE

    Zühre Kaya

    2013-01-01

    Iron deficiency is one of the commonest nutritional deficiencies in the world. It is multifactorial and may be caused by lack of intake, blood loss and intestinal causes. Clinical features are highly variable, and most patients are asymptomatic. Typical laboratory features of iron deficiency anemia (IDA) include a hypochromic microcytic anemia, low serum iron level, high total iron binding capacity, low serum ferritin level. Usefulness of monitoring serum transferrin receptor level (sTf...