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Sample records for complete adrenocorticotropin deficiency

  1. Complete adrenocorticotropin deficiency after radiation therapy for brain tumor with a normal growth hormone reserve

    International Nuclear Information System (INIS)

    Sakai, Haruna; Yoshioka, Katsunobu; Yamagami, Keiko

    2002-01-01

    A 34-year-old man with neurofibromatosis type 1, who had received radiation therapy after the excision of a brain tumor 5 years earlier, was admitted to our hospital with vomiting and weight loss. Cortisol and adrenocorticotropin (ACTH) were undetectable before and after administration of 100 μg corticotropin releasing hormone. The level of growth hormone without stimulation was 24.7 ng/ml. We diagnosed him to have complete ACTH deficiency attributable to radiation therapy. This is the first known case of a patient with complete ACTH deficiency after radiation therapy and a growth hormone reserve that remained normal. (author)

  2. Psychiatric symptoms in a patient with isolated adrenocorticotropin deficiency: case report and literature review.

    Science.gov (United States)

    Morigaki, Yoko; Iga, Jun-Ichi; Kameoka, Naomi; Sumitani, Satsuki; Ohmori, Tetsuro

    2014-01-01

    We report a 59-year-old man with isolated adrenocorticotropin (ACTH) deficiency. The patient presented with sudden onset of delusions and hallucinations at the age of 54, which resolved gradually without treatment. Subsequently, the patient manifested stereotypy, wandering, hypobulia, and autistic symptoms, and was treated with antipsychotics for 1 year without any improvement. He suffered from neuroleptic malignant syndrome-like symptoms at the age of 59. A thorough endocrine assessment revealed isolated ACTH deficiency. After hydrocortisone supplementation, the physical and psychiatric symptoms improved dramatically. Clinicians should consider this rare disease when diagnosing patients with refractory psychiatric symptoms and unique physical symptoms of isolated ACTH deficiency. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Optimizing glucocorticoid replacement therapy in severely adrenocorticotropin-deficient hypopituitary male patients.

    LENUS (Irish Health Repository)

    Behan, Lucy-Ann

    2012-02-01

    BACKGROUND: The optimal replacement regimen of hydrocortisone in adults with severe ACTH deficiency remains unknown. Management strategies vary from treatment with 15-30 mg or higher in daily divided doses, reflecting the paucity of prospective data on the adequacy of different glucocorticoid regimens. OBJECTIVE: Primarily to define the hydrocortisone regimen which results in a 24 h cortisol profile that most closely resembles that of healthy controls and secondarily to assess the impact on quality of life (QoL). DESIGN: Ten male hypopituitary patients with severe ACTH deficiency (basal cortisol <100 nm and peak response to stimulation <400 nm) were enrolled in a prospective, randomized, crossover study of 3 hydrocortisone dose regimens. Following 6 weeks of each regimen patients underwent 24 h serum cortisol sampling and QoL assessment with the Short Form 36 (SF36) and the Nottingham Health Profile (NHP) questionnaires. Free cortisol was calculated using Coolen\\'s equation. All results were compared to those of healthy, matched controls. RESULTS: Corticosteroid binding globulin (CBG) was significantly lower across all dose regimens compared to controls (P < 0.05). The lower dose regimen C (10 mg mane\\/5 mg tarde) produced a 24 h free cortisol profile (FCP) which most closely resembled that of controls. Both regimen A(20 mg mane\\/10 mg tarde) and B(10 mg mane\\/10 mg tarde) produced supraphysiological post-absorption peaks. There was no significant difference in QoL in patients between the three regimens, however energy level was significantly lower across all dose regimens compared to controls (P < 0.001). CONCLUSIONS: The lower dose of hydrocortisone (10 mg\\/5 mg) produces a more physiological cortisol profile, without compromising QoL, compared to higher doses still used in clinical practice. This may have important implications in these patients, known to have excess cardiovascular mortality.

  4. Optimising glucocorticoid replacement therapy in severely adrenocorticotropin (ACTH) deficient hypopituitary male patients.

    LENUS (Irish Health Repository)

    Behan, Lucy-Ann

    2011-04-18

    Context:  The optimal replacement regimen of hydrocortisone in adults with severe ACTH deficiency remains unknown. Management strategies vary from treatment with 15mg to 30mg or higher in daily divided doses, reflecting the paucity of prospective data on the adequacy of different glucocorticoid regimens. Objective:  Primarily to define the hydrocortisone regimen which results in a 24hour cortisol profile that most closely resembles that of healthy controls and secondarily to assess the impact on quality of life (QoL). Design:  10 male hypopituitary patients with severe ACTH deficiency (basal cortisol <100nM and peak response to stimulation <400nM) were enrolled in a prospective, randomised, crossover study of 3 hydrocortisone dose regimens. Following 6 weeks of each regimen patients underwent 24hour serum cortisol sampling and QoL assessment with the Short Form 36 and the Nottingham Health Profile questionnaires. Free cortisol was calculated using Coolen\\'s equation. All results were compared to those of healthy, matched controls. Results:  CBG was significantly lower across all dose regimens compared to controls (p<0.05). The lower dose regimen C(10mg mane\\/5mg tarde) produced a 24hour free cortisol profile which most closely resembled that of controls. Both regimen A(20mg mane\\/10mg tarde) and B(10mg mane\\/10mg tarde) produced supraphysiological post-absorption peaks. There was no significant difference in QoL in patients between the three regimens, however energy level was significantly lower across all dose regimens compared to controls (p<0.001). Conclusions:  The lower dose of HC(10mg\\/5mg) produces a more physiological cortisol profile, without compromising quality of life, compared to higher doses still used in clinical practice. This may have important implications in these patients, known to have excess cardiovascular mortality.

  5. Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Naville, D.; Barjhoux, L.; Jaillard, C. [Hopital Debrousse, Tours (France)] [and others

    1996-04-01

    The hereditary syndrome of unresponsiveness to ACTH is a rare autosomal recessive disorder characterized by low levels of serum cortisol and high levels of plasma ACTH. There is no cortisol response to exogenous ACTH. Recent cloning of the human ACTH receptor gene has enabled us to study this gene in patients with glucocorticoid deficiency. By using the PCR to amplify the coding sequence of the ACTH receptor gene, we identified three mutations in two unrelated patients. One mutation present in homozygous form converted the negatively charged Asp{sup 107}, located in the third transmembrane domain, to an uncharged Asn residue. The second patient was a compound heterozygote: the paternal allele contained a one-nucleotide insertion leading to a stop codon within the third extracellular loop, and the maternal allele contained a point mutation converting Cys{sup 235} to Phe, also in the third extracellular loop. Normal and mutant ACTH receptor genes were expressed in the M3 cell line, and intracellular cAMP production in response to ACTH was measured. For the mutant receptors, no response to physiological ACTH concentrations was detected, suggesting an impaired binding of ACTH to the receptors and/or an altered coupling to the adenylate cyclase effector. 24 refs., 6 figs., 2 tabs.

  6. Psychomotor retardation in a girl with complete growth hormone deficiency.

    Science.gov (United States)

    Dayal, Devi; Malhi, Prabhjot; Kumar Bhalla, Anil; Sachdeva, Naresh; Kumar, Rakesh

    2013-01-01

    Infants with complete growth hormone deficiency may suffer from psychomotor retardation in addition to severe growth failure. Without replacement therapy, they may have a compromised intellectual potential manifesting as learning disabilities and attention-deficit disorders in later life. In this communication, we discuss an infant who showed improvement in physical growth after growth hormone therapy but her psychomotor skills did not improve probably due to late start of treatment. There is a need to start growth hormone therapy as early as possible in infants with complete growth hormone deficiency to avoid adverse effects on psychomotor and brain development.

  7. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tsigos, C.; Arai, K.; Latronico, A.C. [National Inst. of Child Health and Human Development, Bethesda, MD (United States)]|[Temple Univ. School of Medicine, Philadelphia, PA (United States)]|[Children`s Hospital of New Jersey, Newark, NJ (United States)] [and others

    1995-07-01

    Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.

  8. Gitelman syndrome combined with complete growth hormone deficiency

    Directory of Open Access Journals (Sweden)

    Se Ra Min

    2013-03-01

    Full Text Available Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters, member 3 (SLC12A3 gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation. The incidence of growth retardation, the exact cause of which is unknown, is lower than that of Bartter syndrome. Herein, we discuss the case of an overweight 12.9-year-old girl of short stature presenting with hypokalemic metabolic alkalosis. The patient, on the basis of detection of a heterozygous mutation in the SLC12A3 gene and poor growth hormone (GH responses in two provocative tests, was diagnosed with Gitelman syndrome combined with complete GH deficiency. GH treatment accompanied by magnesium oxide and potassium replacement was associated with a good clinical response.

  9. Renal AA amyloidosis in a patient with hereditary complete complement C4 deficiency

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    Imed Helal

    2011-01-01

    Full Text Available Hereditary complete C4 deficiency has until now been reported in 30 cases only. A disturbed clearance of immune- complexes probably predisposes these individuals to systemic lupus erythematosus, other immune- complex diseases and recurrent microbial infections. We present here a 20- year- old female with hereditary complete C4 deficiency. Renal biopsy demonstrated renal AA amyloidosis. This unique case further substantiates that deficiency of classical pathway components predisposes to the development of recurrent microbial infections and that the patients may develop AA amyloidosis. Furthermore, in clinical practice, the nephrotic syndrome occurring in a patient with hereditary complete complement C4 deficiency should lead to the suspicion of renal AA amyloidosis.

  10. Chemotherapy-Induced Regression of an Adrenocorticotropin-Secreting Pituitary Carcinoma Accompanied by Secondary Adrenal Insufficiency

    Directory of Open Access Journals (Sweden)

    Robert Frank Cornell

    2013-01-01

    Full Text Available Purpose. Adrenocorticotropin- (ACTH- secreting pituitary carcinomas are rare and require multimodality treatment. The aim of this study was to report the response to various therapies and discuss the potential development of secondary adrenal insufficiency with cytotoxic chemotherapy. Methods. This report describes a man with a large silent corticotroph adenoma progressing to endogenous hypercortisolism and metastatic ACTH-secreting pituitary carcinoma over a period of 14 years. Results. Seven years after initial presentation, progressive tumor enlargement associated with the development of hypercortisolism mandated multiple pituitary tumor debulking procedures and radiotherapy. Testing of the Ki-67 proliferation index was markedly high and he developed a hepatic metastasis. Combination therapy with cisplatin and etoposide resulted in a substantial reduction in tumor size, near-complete regression of his liver metastasis, and dramatic decrease in ACTH secretion. This unexpectedly resulted in symptomatic secondary adrenal insufficiency. Conclusions. This is the first reported case of secondary adrenal insufficiency after use of cytotoxic chemotherapy for metastatic ACTH-secreting pituitary carcinoma. High proliferative indices may be predictive of dramatic responses to chemotherapy. Given the potential for such responses, the development of secondary adrenal insufficiency may occur and patients should be monitored accordingly.

  11. Effect of complete protein 4.1R deficiency on ion transport properties of murine erythrocytes

    International Nuclear Information System (INIS)

    Rivera, Alicia; De Franceschi, Lucia; Peters, Luanne L.; Gascard, Philippe; Mohandas, Narla; Brugnara, Carlo

    2006-01-01

    Moderate hemolytic anemia, abnormal erythrocyte morphology (spherocytosis), and decreased membrane stability are observed in mice with complete deficiency of all erythroid protein 4.1 protein isoforms (4.1-/-; Shi TS et al., J. Clin. Invest. 103:331,1999). We have examined the effects of erythroid protein 4.1 (4.1R) deficiency on erythrocyte cation transport and volume regulation. 4.1-/- mice exhibited erythrocyte dehydration that was associated with reduced cellular K and increased Na content. Increased Na permeability was observed in these mice, mostly mediated by Na/H exchange with normal Na-K pump and Na-K-2Cl cotransport activities. The Na/H exchange of 4.1-/- erythrocytes was markedly activated by exposure to hypertonic conditions (18.2+- 3.2 in 4.1 -/- vs.9.8 +- 1.3 mmol/1013 cell x h in control mice), with an abnormal dependence on osmolarity, (K0.5=417 +- 42 in 4.1 -/- vs. 460 +- 35 mOsmin control mice) suggestive of an up-regulated functional state. While the affinity for internal protons was not altered (K0.5= 489.7 +- 0.7 vs.537.0 +- 0.56 nM in control mice), the Vmax of the H-induced Na/H exchange activity was markedly elevated in 4.1-/- erythrocytes Vmax 91.47 Moderate hemolytic anemia, abnormal erythrocyte morphology (spherocytosis), and decreased membrane stability are observed in mice with complete deficiency of all erythroid protein 4.1 protein isoforms (4.1-/-; Shi TSet al., J. Clin. Invest. 103:331,1999). We have examined the effects of erythroid protein 4.1 (4.1R) deficiency on erythrocyte cation transport and volume regulation. 4.1-/- mice exhibited erythrocyte dehydration that was associated with reduced cellular K and increased Na content. Increased Na permeability was observed in these mice, mostly mediated by Na/H exchange with normal Na-K pump and Na-K-2Cl cotransport activities. The Na/H exchange of 4.1-/- erythrocytes was markedly activated by exposure to hypertonic conditions (18.2 +- 3.2 in 4.1 -/- vs. 9.8 +- 1.3mmol/1013 cell x h in

  12. Massage increases oxytocin and reduces adrenocorticotropin hormone in humans.

    Science.gov (United States)

    Morhenn, Vera; Beavin, Laura E; Zak, Paul J

    2012-01-01

    Human beings are highly social creatures who often touch each other during social interactions. Although the physiologic effects of touch are not understood fully, it appears to sustain social bonds and to increase cooperative behaviors. Oxytocin (OT) is a hormone known to facilitate social bonding, and touch may affect OT release. Previous studies seeking to relate massage and oxytocin in humans have been inconsistent in their findings. This study examined the effect of massage on oxytocin and also measured its effect on other physiologic factors, including adrenocorticotropin hormone (ACTH), nitric oxide (NO), and beta-endorphin (BE). The research team advertised that the trial would study relaxation and assigned participants randomly to the intervention or the control group. A lab administrator assigned a random numeric code to participants to mask their identities. The study took place at the University of California Los Angeles (UCLA), Los Angeles, CA. Ninety-five people from UCLA gave written informed consent for participation in the study, with the team paying them to participate. The intervention group included 65 participants and the control group 30 participants. For the intervention (massage) group, the research team drew participants' blood and followed the blood draw with 15 minutes of moderate-pressure massage of the upper back. The control (rest) group rested quietly for 15 minutes after the blood draw. A second blood draw followed for both groups. The research team assayed OT, ACTH, NO, and BE. The team used four survey instruments to examine the relationship between personality factors and the physiologic measures of interest. The team analyzed data using SPSS 15.0 for Windows. Massage was associated with an increase in OT and reductions in ACTH, NO, and BE. Comparing the effects of massage for the massage group with those for the rest group, the research team found significant differences between groups for changes in OT, ACTH, NO, and BE. This

  13. Effect of complete protein 4.1R deficiency on ion transportproperties of murine erythrocytes

    Energy Technology Data Exchange (ETDEWEB)

    Rivera, Alicia; De Franceschi, Lucia; Peters, Luanne L.; Gascard,Philippe; Mohandas, Narla; Brugnara, Carlo

    2006-06-02

    Moderate hemolytic anemia, abnormal erythrocyte morphology(spherocytosis), and decreased membrane stability are observed in micewith complete deficiency of all erythroid protein 4.1 protein isoforms(4.1-/-; Shi TS et al., J. Clin. Invest. 103:331,1999). We have examinedthe effects of erythroid protein 4.1 (4.1R) deficiency on erythrocytecation transport and volume regulation. 4.1-/- mice exhibited erythrocytedehydration that was associated with reduced cellular K and increased Nacontent. Increased Na permeability was observed in these mice, mostlymediated by Na/H exchange with normal Na-K pump and Na-K-2Cl cotransportactivities. The Na/H exchange of 4.1-/- erythrocytes was markedlyactivated by exposure to hypertonic conditions (18.2+- 3.2 in 4.1 -/- vs.9.8 +- 1.3 mmol/1013 cell x h in control mice), with an abnormaldependence on osmolarity, (K0.5=417 +- 42 in 4.1 -/- vs. 460 +- 35 mOsmin control mice) suggestive of an up-regulated functional state. Whilethe affinity for internal protons was not altered (K0.5= 489.7 +- 0.7 vs.537.0+- 0.56 nM in control mice), the Vmax of the H-induced Na/H exchangeactivity was markedly elevated in 4.1-/- erythrocytes (Vmax 91.47Moderatehemolytic anemia, abnormal erythrocyte morphology (spherocytosis), anddecreased membrane stability are observed in mice with completedeficiency of all erythroid protein 4.1 protein isoforms (4.1-/-; Shi TSet al., J. Clin. Invest. 103:331,1999). We have examined the effects oferythroid protein 4.1 (4.1R) deficiency on erythrocyte cation transportand volume regulation. 4.1-/- mice exhibited erythrocyte dehydration thatwas associated with reduced cellular K and increased Na content.Increased Na permeability was observed in these mice, mostly mediated byNa/H exchange with normal Na-K pump and Na-K-2Cl cotransport activities.The Na/H exchange of 4.1-/- erythrocytes was markedly activated byexposure to hypertonic conditions (18.2 +- 3.2 in 4.1 -/- vs. 9.8 +- 1.3mmol/1013 cell x h in control mice), with an

  14. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

    NARCIS (Netherlands)

    Peeters, A.C.T.; Kucharekova, M.; Timmermans, J.; Berkmortel, F.W.P.J. van den; Boers, G.H.J.; Nováková, I.R.O.; Egging, D.; Heijer, M. den; Schalkwijk, J.

    2004-01-01

    BACKGROUND: We recently described a new autosomal recessive type of Ehlers-Danlos syndrome (EDS) based on a deficiency of the extracellular matrix protein tenascin-X (TNX). TNX-deficient patients have hypermobile joints, hyperextensible skin and show easy bruising. Because of the reported

  15. ADRENOCORTICOTROPIN HORMONE AND CORTISOL DYNAMIC VARIATION IN CASE OF CHILDREN›S NEUROINFECTIONS

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    T. N. Malyugina

    2016-01-01

    Full Text Available The  data  presented in the  article  deal  with  research  of hormone changes in hypophysial-paranephric system in the course  of neuroinfections. The  given  work  was  carried  out with  the  purpose of detection of dependence of the  cortisol and adrenocorticotropin hormone level on aetiology, gender, severity and  period  (cycle  of the  disease.A comprehensive clinical  and  laboratorial checkup of 109 children with  different  nosological forms of neuroinfections was carried  out: meningitis: viral, enteroviral, purulent and  cerebromeningitis. Control board group was composed of 10 healthy children of the identical age. All the patients underwent the Adrenocorticotropin Hormone and  Cortisol  blood  serum  level,  IFA technique being  used,  during acuity and  reconvalesence. It has  been  determined that  in  case  of neuroinfections  irrrespective of the ethiology, hypophysis trophic funtction undergoes arrest during the whole disease period. While studying adrenal gland  functioning during the  acuity the  increased cortisol secretion is observed, the degree of which  is authentically  higher  in case  of purulent meningitis and  meningoencephalitis compared to hydromeningitis. On recovery  the cortisol values decrease to healthy children’s level. A reliable dependence of the  ACTH  and  cortisol  level  on the  severity degree in case of purulent meningitis and meningoencephalitis was discovered ( brought to light. It is also satisfactorily brought to light that ACTH and cortisol levels depend on the severity degree in case of purulent meningitis and meningoencephalitis. It is proved that adrenal gland  system function does  not depend on the patients’ gender and  age in case of neuroinfections.

  16. Continuous infusion of adrenocorticotropin elevates circulating lipoprotein cholesterol and corticosterone concentrations in chickens.

    Science.gov (United States)

    Latour, M A; Laiche, S A; Thompson, J R; Pond, A L; Peebles, E D

    1996-11-01

    The purpose of the present study was to investigate the effects of elevated corticosterone (CORT) on circulating lipoprotein cholesterol during a 1-wk period. For this study, 15 commercial broilers were randomly assigned to one of three treatment groups. Group 1 served as the control (CON) and received no treatment, whereas Groups 2 and 3 received subcutaneous mini-osmotic pumps containing either physiological saline (PS) or adrenocorticotropin (ACTH), respectively. The ACTH was delivered at a rate of 8 IU/kg of BW/d. Blood samples were taken at Time 0 (before implants) and on Days 2, 4, and 7 postimplantation. Continuous infusion of ACTH increased plasma glucose, cholesterol, triglycerides, very low density lipoprotein cholesterol, low density lipoprotein cholesterol, high density lipoprotein cholesterol, and CORT during the postimplantation period. The group treated with ACTH also exhibited a decrease in BW during the last 2 sampling d. There were no differences in any of the serum constituents measured between CON and PS birds, which suggest that CON birds can serve as useful controls. These data suggest that birds given a continuous infusion of ACTH at 8 IU/kg of BW/d can experience changes in plasma lipoprotein cholesterol concentrations along with changes in other blood parameters and may serve as a useful model in accelerated lipoprotein production.

  17. Haploinsufficiency of E-selectin ligand-1 is Associated with Reduced Atherosclerotic Plaque Macrophage Content while Complete Deficiency Leads to Early Embryonic Lethality in Mice

    Science.gov (United States)

    Luo, Wei; Wang, Hui; Guo, Chiao; Wang, Jintao; Kwak, Jeffrey; Bahrou, Kristina L; Eitzman, Daniel T.

    2012-01-01

    E-selectin-1 (ESL-1), also known as golgi complex-localized glycoprotein-1 (GLG1), homocysteine-rich fibroblast growth factor receptor (CGR-1), and latent transforming growth factor-β complex protein 1 (LTCP-1), is a multifunctional protein with widespread tissue distribution. To determine the functional consequences of ESL-1 deficiency, mice were generated carrying an ESL-1 gene trap. After backcrossing to C57BL6/J for 6 generations, mice heterozygous for the gene trap (ESL-1+/-) were intercrossed to produce ESL-1-/- mice, however ESL-1-/- mice were not viable, even at embryonic day E10.5. To determine the effect of heterozygous ESL-1 deficiency on atherosclerosis, apolipoprotein E deficient (ApoE-/-), ESL-1+/- mice were generated and fed western diet. Compared to ApoE-/-, ESL-1++ mice, atherosclerotic lesions from ApoE-/-, ESL-1+/- contained more collagen and fewer macrophages, suggesting increased plaque stability. In conclusion, heterozygous deficiency of ESL-1 is associated with features of increased atherosclerotic plaque stability while complete deficiency of ESL-1 leads to embryonic lethality. PMID:22939356

  18. Outcome of synthetic adrenocorticotropin hormone treatment in children with infantile spasm

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    I Gusti Ngurah Made Suwarba

    2011-04-01

    Full Text Available Background Infantile spasms (IS is an age-spedfic epilepsy syndrome characterized by flexor, extensor, and mixed flexor-extensor spasms which often occur in clusters during the first 2 years of life. IS is often difficult to manage 'With the usual anti-epilepsy drugs (AEDs. Therapy with adrenocorticotropin honnone (ACTH has been used since 1958. In Indonesia, ACTH usage is still rare. Objective This study aims to examine the effectiveness of ACTH as an anti-epileptic drug in managing IS. Methods This was descriptive retrospective cohort study. Subjects were IS patients who visited the neurology outpatient clinic in Sanglah Hospital, Bali, from January 2007 until June 2010. Each subject received AED(s plus either ACTH or methylprednisolone for 46 weeks. Results There were 19 IS patients over the four year duration of this study. They were mostly boys (11, aged 2 weeks to 17 months, with a mean age at treatment of 9 months. Eighteen patients received poly therapy, while one patient received only phenobarbital as monotherapy. Most patients who received ACTH (13/16 had a seizure-free period, while the 3 that did not receive ACTH continued having seizures. Patients who received ACTH showed a good response (seizure-free after 5-13 days therapy and their EEG pattern showed disappearance of burst suppression Mthin 1-2 weeks. ACTH side effects included weight gain and cushingoid appearance. One patient died from pneumonia. Conclusions Diagnosis of IS should be considered in patients pre-senting Mth spasms at less than 6 months old. IS treatment should begin as soon as possible. IS patients responded well to a short course of ACTH therapy.

  19. Complete tear of the lateral meniscus posterior root is associated with meniscal extrusion in anterior cruciate ligament deficient knees.

    Science.gov (United States)

    Kamatsuki, Yusuke; Furumatsu, Takayuki; Fujii, Masataka; Kodama, Yuya; Miyazawa, Shinichi; Hino, Tomohito; Ozaki, Toshifumi

    2018-01-25

    This study aimed to evaluate the relationship between preoperative lateral meniscal extrusion (LME) and arthroscopic findings of lateral meniscus posterior root tear (LMPRT) in knees with anterior cruciate ligament (ACL) tear. Thirty-five knees that had LMPRTs with concomitant ACL tears on arthroscopy were evaluated. Patients were divided into two groups, partial and complete root tears, via arthroscopic findings at the time of ACL reconstruction. For comparison, we added two groups, using the same database; 20 normal knees (normal group) and 20 ACL-injured knees without LM injury (intact LM group). We retrospectively measured preoperative LMEs using magnetic resonance imaging (MRI). Twenty-three knees had partial LMPRTs. Complete LMPRTs were observed in 12 knees. The average LME was -0.1 ± 0.4 mm in the normal group, 0.2 ± 0.5 mm in the intact LM group, 0.4 ± 0.8 mm in the partial LMPRT group, and 2.0 ± 0.6 mm in the complete LMPRT group. A significant difference in preoperative LMEs was observed between the complete LMPRT group and the other groups (p < 0.001). The receiver operating curve analysis, which distinguishes a partial tear from a complete tear, identified an optimal cut-off point of 1.1 mm for preoperative LME. This LME cut-off had a sensitivity of 100% and specificity of 83% for complete LMPRT. We found that preoperative LMEs were larger in complete LMPRTs associated with ACL injuries than in partial LMPRTs. Our results suggest that preoperative MRI-detected LME may be a useful indicator for estimating LMPRT severity in ACL-injured knees. Retrospective comparative study level IV. © 2018 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res. © 2018 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.

  20. Lrit3 deficient mouse (nob6: a novel model of complete congenital stationary night blindness (cCSNB.

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    Marion Neuillé

    Full Text Available Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB. The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knock-out mouse, a model to study the function and the pathogenic mechanism of LRIT3. We confirm that the insertion of a Bgeo/Puro cassette in the knock-out allele introduces a premature stop codon, which presumably codes for a non-functional protein. The mouse line does not harbor other mutations present in common laboratory mouse strains or in other known cCSNB genes. Lrit3 mutant mice exhibit a so-called no b-wave (nob phenotype with lacking or severely reduced b-wave amplitudes in the scotopic and photopic electroretinogram (ERG, respectively. Optomotor tests reveal strongly decreased optomotor responses in scotopic conditions. No obvious fundus auto-fluorescence or histological retinal structure abnormalities are observed. However, spectral domain optical coherence tomography (SD-OCT reveals thinned inner nuclear layer and part of the retina containing inner plexiform layer, ganglion cell layer and nerve fiber layer in these mice. To our knowledge, this is the first time that SD-OCT technology is used to characterize an animal model for CSNB. This phenotype is noted at 6 weeks and at 6 months. The stationary nob phenotype of mice lacking Lrit3, which we named nob6, confirms the findings previously reported in patients carrying LRIT3 mutations and is similar to other cCSNB mouse models. This novel mouse model will be useful for investigating the pathogenic mechanism(s associated with LRIT3 mutations and clarifying the role of LRIT3 in the ON-bipolar cell signaling cascade.

  1. Presence of mother and unfamiliar female alters levels of testosterone, progesterone, cortisol, adrenocorticotropin, and behavior in maturing Guinea pigs.

    Science.gov (United States)

    Hennessy, Michael B; Maken, Deborah S; Graves, Franklynn C

    2002-08-01

    Although the guinea pig is characterized by precocial physical development and minimal active maternal care, studies suggest the presence of the mother can influence neuroendocrine and behavioral activity of offspring even well beyond weaning. Previous results may have been influenced by the procedure of housing weaned subjects with the mother to within 2 days of testing. The present study examined approximately 40-day-old guinea pigs housed apart from the mother for 0 (not rehoused), 2, or 10 days. Rehousing without the mother led to elevations in plasma testosterone (measured in males), progesterone (measured in females), cortisol, and adrenocorticotropin (ACTH) (both measured in males and females). Offspring housed without the mother for 10 days had the highest progesterone, cortisol, and ACTH levels. Testosterone elevations were observed in 2-day-, but not 10-day-, rehoused animals. Regardless of rehousing condition, 60 min isolation in a novel test cage elevated progesterone, cortisol, and ACTH, and reduced testosterone. These effects were all moderated if the subject was tested with the mother or another female. Sexual behavior toward the mother was observed frequently, but only in males housed apart from her prior to testing. Overall, males and females that had been housed apart from the mother interacted with her as they would an unfamiliar female. Our results corroborate previous findings, suggest the effect of housing apart from the mother on male testosterone is transitory, and indicate that continuous housing with the mother past weaning suppresses circulating progesterone in females and cortisol and ACTH in both sexes.

  2. Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-α Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome.

    Science.gov (United States)

    Khorashad, Behzad S; Aghili, Zahra; Kreukels, Baudewijntje P C; Reid, Alistair G; Roshan, Ghasem M; Hiradfar, Mehran; Talaei, Ali; Cohen Kettenis, Peggy T

    2018-05-01

    Sixty-one patients (22 patients with congenital adrenal hyperplasia [CAH] with a mean age of 14.86 years [range, 5-23], 20 patients with 5-α reductase deficiency type 2 [5α-RD-2] with a mean age of 19.5 years [range, 5-29], and 19 patients with complete androgen insensitivity syndrome [CAIS] with a mean age of 18.26 years [range, 5-28]) were evaluated using the Kiddie Schedule for Affective Disorders and Schizophrenia, the Structured Clinical Interview for DSM-IV Axis I, Axis II, and the Global Assessment Functioning Scale. All participants were female-assigned at birth. Ten patients (16.4%) transitioned to the male gender. Overall, 68% of patients had one or more lifetime Axis I disorders, including 63.6% of the CAH participants, 90% of 5α-RD-2 participants, and 52.6% of the CAIS participants. The most commonly observed were affective disorders (27.9%), gender identity disorder (27.9%), and anxiety (16.4%). Our study demonstrates that mental health of Iranian patients with DSD is at risk. This might be due to the fact that patients with DSD conditions are mostly treated medically and their mental health is often superficially addressed in developing countries such as Iran, at least in the past. We argue that it is important to pay attention to the mental health issues of patients with DSD and focus on specific issues, which may vary cross-culturally.

  3. Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.

    Science.gov (United States)

    Tatti, Massimo; Motta, Marialetizia; Di Bartolomeo, Sabrina; Scarpa, Susanna; Cianfanelli, Valentina; Cecconi, Francesco; Salvioli, Rosa

    2012-12-01

    Saposin (Sap) C deficiency, a rare variant form of Gaucher disease, is due to mutations in the Sap C coding region of the prosaposin (PSAP) gene. Sap C is required as an activator of the lysosomal enzyme glucosylceramidase (GCase), which catalyzes glucosylceramide (GC) degradation. Deficit of either GCase or Sap C leads to the accumulation of undegraded GC and other lipids in lysosomes of monocyte/macrophage lineage. Recently, we reported that Sap C mutations affecting a cysteine residue result in increased autophagy. Here, we characterized the basis for the autophagic dysfunction. We analyzed Sap C-deficient and GCase-deficient fibroblasts and observed that autophagic disturbance was only associated with lack of Sap C. By a combined fluorescence microscopy and biochemical studies, we demonstrated that the accumulation of autophagosomes in Sap C-deficient fibroblasts is not due to enhanced autophagosome formation but to delayed degradation of autolysosomes caused, in part, to decreased amount and reduced enzymatic activity of cathepsins B and D. On the contrary, in GCase-deficient fibroblasts, the protein level and enzymatic activity of cathepsin D were comparable with control fibroblasts, whereas those of cathepsin B were almost doubled. Moreover, the enhanced expression of both these lysosomal proteases in Sap C-deficient fibroblasts resulted in close to functional autophagic degradation. Our data provide a novel example of altered autophagy as secondary event resulting from insufficient lysosomal function.

  4. An oral Na(V)1.8 blocker improves motor function in mice completely deficient of myelin protein P-0

    DEFF Research Database (Denmark)

    Rosberg, Mette R.; Alvarez Herrero, Susana; Krarup, Christian

    2016-01-01

    Mice deficient of myelin protein P0 are established models of demyelinating Charcot-Marie-Tooth (CMT) disease. Dysmyelination in these mice is associated with an ectopic expression of the sensory neuron specific sodium channel isoform NaV1.8 on motor axons. We reported that in P0+/−, a model of CMT......-/-, a CMT model with a much more severe neuropathy. We found that the progressive impairment of motor performance from 1 to 4 months of age in P0-/- could be acutely reversed by C31 treatment. The effect was associated with an improvement of the amplitude of the plantar CMAP evoked by tibial nerve...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... screen for iron-deficiency anemia, your doctor may order a blood test called a complete blood count ( ... your risk factors , do a physical exam, or order blood tests or other diagnostic tests. Physical exam ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause ... as complete blood count and iron studies. Prevent complications over your lifetime To prevent complications from iron- ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... at highest risk for iron-deficiency anemia. Special measures can help prevent the condition in these groups. ... is a complete blood count (CBC). The CBC measures many parts of your blood. This test checks ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... test called a complete blood count (CBC) to see if you have lower than normal red blood ... iron-deficiency anemia: Check for bleeding. Look to see whether your tongue, nails, or inner lining of ...

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  10. Health Deficiencies

    Data.gov (United States)

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

  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.

  12. VLCAD deficiency

    DEFF Research Database (Denmark)

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

    2006-01-01

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

  13. Iron-Deficiency Anemia

    Medline Plus

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

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

    DEFF Research Database (Denmark)

    Frøssing, Signe; Rønø, Birgitte; Hald, Andreas

    2010-01-01

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

  15. 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...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Leer en español What Is Iron-deficiency anemia ... cases, surgery may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is ...

  17. Iron-Deficiency Anemia

    Medline Plus

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

  18. The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB.

    Science.gov (United States)

    Schütz, Ekkehard; Wehrhahn, Christin; Wanjek, Marius; Bortfeld, Ralf; Wemheuer, Wilhelm E; Beck, Julia; Brenig, Bertram

    2016-01-01

    With the availability of massive SNP data for several economically important cattle breeds, haplotype tests have been performed to identify unknown recessive disorders. A number of so-called lethal haplotypes, have been uncovered in Holstein Friesian cattle and, for at least seven of these, the causative mutations have been identified in candidate genes. However, several lethal haplotypes still remain elusive. Here we report the molecular genetic causes of lethal haplotype 5 (HH5) and cholesterol deficiency (CDH). A targeted enrichment for the known genomic regions, followed by massive parallel sequencing was used to interrogate for causative mutations in a case/control approach. Targeted enrichment for the known genomic regions, followed by massive parallel sequencing was used in a case/control approach. PCRs for the causing mutations were developed and compared to routine imputing in 2,100 (HH5) and 3,100 (CDH) cattle. HH5 is caused by a deletion of 138kbp, spanning position 93,233kb to 93,371kb on chromosome 9 (BTA9), harboring only dimethyl-adenosine transferase 1 (TFB1M). The deletion breakpoints are flanked by bovine long interspersed nuclear elements Bov-B (upstream) and L1ME3 (downstream), suggesting a homologous recombination/deletion event. TFB1M di-methylates adenine residues in the hairpin loop at the 3'-end of mitochondrial 12S rRNA, being essential for synthesis and function of the small ribosomal subunit of mitochondria. Homozygous TFB1M-/- mice reportedly exhibit embryonal lethality with developmental defects. A 2.8% allelic frequency was determined for the German HF population. CDH results from a 1.3kbp insertion of an endogenous retrovirus (ERV2-1-LTR_BT) into exon 5 of the APOB gene at BTA11:77,959kb. The insertion is flanked by 6bp target site duplications as described for insertions mediated by retroviral integrases. A premature stop codon in the open reading frame of APOB is generated, resulting in a truncation of the protein to a length of

  19. Iron-Deficiency Anemia

    Science.gov (United States)

    ... Home / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español ... bleeding Consuming less than recommended daily amounts of iron Iron-deficiency anemia can be caused by getting ...

  20. Iron-Deficiency Anemia

    Medline Plus

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

  1. Iron-Deficiency Anemia

    Medline Plus

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

  2. Vitamin Deficiency Anemia

    Science.gov (United States)

    ... cancer can interfere with the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack ... vitamin B-12 deficiency anemia called pernicious anemia. Vitamin C deficiency anemia risk factors include: Smoking. Smoking ...

  3. Vitamin Deficiency Anemia

    Science.gov (United States)

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

  4. Genetics Home Reference: complete plasminogen activator inhibitor 1 deficiency

    Science.gov (United States)

    ... or soft tissues after even a minor injury. Internal bleeding after an injury, especially bleeding around the ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, ... can help prevent overdosing in children. Because recent research supports concerns that iron deficiency during infancy and ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... at 1 year of age. Women and Girls Women of childbearing age may be tested for iron-deficiency anemia, especially if they have: A history of iron-deficiency anemia Heavy blood loss during ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... condition. Women Women of childbearing age are at higher risk for iron-deficiency anemia because of blood ... iron-deficiency anemia. Pregnant women also are at higher risk for the condition because they need twice ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... absorb iron from the gastrointestinal tract (GI tract). Blood loss When you lose blood, you lose iron. ... other conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ... and is recruiting by invitation only. View more information about Donor Iron Deficiency Study - Red Blood Cells ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and young children and women are the two groups at highest risk for iron-deficiency anemia. Outlook Doctors usually can successfully treat iron-deficiency anemia. Treatment ... ...

  11. Iron-Deficiency Anemia

    Medline Plus

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

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... drawings also can cause iron-deficiency anemia. Poor Diet The best sources of iron are meat, poultry, ... more likely to develop iron-deficiency anemia. Vegetarian diets can provide enough iron if you eat the ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Health Topics Health Topics A-Z Clinical Trials Publications and Resources Health Education and Awareness The Science ... deficiency anemia. Endurance activities and athletes. Athletes, especially young females, are at risk for iron deficiency. Endurance ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... risk for the condition. Women Women of childbearing age are at higher risk for iron-deficiency anemia ... periods. About 1 in 5 women of childbearing age has iron-deficiency anemia. Pregnant women also are ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and ... of the mouth, an enlarged spleen, and frequent infections. People who have iron-deficiency anemia may have ...

  16. Iron-Deficiency Anemia

    Medline Plus

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

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... have iron-deficiency anemia, you'll have a high level of transferrin that has no iron. Other ... may include dietary changes and supplements, medicines, and surgery. Severe iron-deficiency anemia may require a blood ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and paler than normal when viewed under a microscope. Different tests help your doctor diagnose iron-deficiency ... if you have iron-deficiency anemia or another type of anemia. You may be diagnosed with iron- ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and ... Internal bleeding (bleeding inside the body) also may lead to iron-deficiency anemia. This type of blood ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs and ... much of the transferrin in your blood isn't carrying iron. If you have iron-deficiency anemia, ...

  1. Iron-Deficiency Anemia

    Medline Plus

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

  2. Iron-Deficiency Anemia

    Medline Plus

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

  3. Iron-Deficiency Anemia

    Medline Plus

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

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. ... Treatment may need to be done in a hospital. The goals of treating iron-deficiency anemia are ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... more information about diet and supplements, go to "How Is Iron-Deficiency Anemia Treated?" Infants and young ... who should be screened for iron deficiency, and how often: Girls aged 12 to 18 and women ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and ... iron-deficiency anemia. Treatment will depend on the cause and severity of the condition. Treatments may include ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is severe, you may get a transfusion of red blood cells. A blood transfusion is ...

  8. 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) ...

  9. Iron-Deficiency Anemia

    Medline Plus

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

  10. Iron-Deficiency Anemia

    Medline Plus

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

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Leer en español What Is Iron-deficiency anemia ... all types of anemia . Signs and Symptoms of Anemia The most common symptom of all types of ...

  12. Iron-Deficiency Anemia

    Medline Plus

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

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, ... prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the ...

  14. Carnitine Deficiency and Pregnancy

    Directory of Open Access Journals (Sweden)

    Anouk de Bruyn

    2015-01-01

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

  15. 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.

  16. Nutrient deficiencies before and after sleeve gastrectomy.

    Science.gov (United States)

    van Rutte, P W J; Aarts, E O; Smulders, J F; Nienhuijs, S W

    2014-10-01

    Obesity is associated with nutritional deficiencies. Bariatric surgery could worsen these deficiencies. Fewer nutritional deficiencies would be seen after sleeve gastrectomy compared to the Roux-en-Y gastric bypass, but sleeve gastrectomy would also cause further deterioration of the deficiencies. The aim of this study was to determine the amount of pre-operative nutrient deficiencies in sleeve gastrectomy patients and assess the evolution of the nutritional status during the first post-operative year. Four hundred seven sleeve gastrectomy patients were assigned to a standardized follow-up program. Data of interest were weight loss, pre-operative nutrient status and evolution of nutrient deficiencies during the first post-operative year. Deficiencies were supplemented when found. Two hundred patients completed blood withdrawal pre-operatively and in the first post-operative year. pre-operatively, 5 % of the patients were anemic, 7 % had low serum ferritin and 24 % had low folic acid. Hypovitaminosis D was present in 81 %. Vitamin A had excessive levels in 72 %. One year post-operatively, mean excess weight loss was 70 %. Anemia was found in 6 %. Low-ferritin levels were found in 8 % of the patients. Folate deficiency decreased significantly and hypovitaminosis D was still found in 36 %. In this study, a considerable amount of patients suffered from a deficient micronutrient status pre-operatively. One year after surgery, micronutrient deficiencies persisted or were found de novo in a considerable amount of patients, despite significant weight loss and supplementation. Significant reductions were seen only for folate and vitamin D.

  17. Colour vision deficiency.

    Science.gov (United States)

    Simunovic, M P

    2010-05-01

    Colour vision deficiency is one of the commonest disorders of vision and can be divided into congenital and acquired forms. Congenital colour vision deficiency affects as many as 8% of males and 0.5% of females--the difference in prevalence reflects the fact that the commonest forms of congenital colour vision deficiency are inherited in an X-linked recessive manner. Until relatively recently, our understanding of the pathophysiological basis of colour vision deficiency largely rested on behavioural data; however, modern molecular genetic techniques have helped to elucidate its mechanisms. The current management of congenital colour vision deficiency lies chiefly in appropriate counselling (including career counselling). Although visual aids may be of benefit to those with colour vision deficiency when performing certain tasks, the evidence suggests that they do not enable wearers to obtain normal colour discrimination. In the future, gene therapy remains a possibility, with animal models demonstrating amelioration following treatment.

  18. LACTASE DEFICIENCY IN CHILDREN

    Directory of Open Access Journals (Sweden)

    V.A. Shcherbak

    2011-01-01

    Full Text Available The topic of the article is the lactase deficiency in children. The most frequent clinical manifestations — diarrhea and flatulence —are not specific to this pathology. Symptoms, typical for the majority of the diseases nosologies of the digestive system, lack of timely laboratory diagnosis, and, often, lack of pediatricians awareness about the specifics of this disease are the cause of lactase deficiency under-diagnostics. The article describes in detail the physiopathological mechanisms, clinical picture, diagnosis and dietary correction of lactase deficiency, the data concerning the prevalence of this disease are cited.Key words: lactose, lactase deficiency, children, health food.

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and ... Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may ...

  20. Iodine deficiency disorders

    International Nuclear Information System (INIS)

    Ali, S.M.

    1993-01-01

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

  1. Vitamin B12 deficiency

    DEFF Research Database (Denmark)

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

    2017-01-01

    , subclinical deficiency affects between 2.5% and 26% of the general population depending on the definition used, although the clinical relevance is unclear. B12 deficiency can affect individuals at all ages, but most particularly elderly individuals. Infants, children, adolescents and women of reproductive age...... are also at high risk of deficiency in populations where dietary intake of B12-containing animal-derived foods is restricted. Deficiency is caused by either inadequate intake, inadequate bioavailability or malabsorption. Disruption of B12 transport in the blood, or impaired cellular uptake or metabolism...

  2. Iron-Deficiency Anemia

    Medline Plus

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

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... when used properly, can help prevent iron-deficiency anemia in infants and young children. Talk with your child's doctor ... and supplements, go to "How Is Iron-Deficiency Anemia Treated?" Infants and young children and women are the two ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... term but can't take iron supplements by mouth. This therapy also is given to people who need immediate treatment for iron-deficiency anemia. Living With If you have iron-deficiency anemia, get ongoing care to make sure your iron levels are improving. ...

  5. 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

  6. Iron deficiency in childhood

    NARCIS (Netherlands)

    Uijterschout, L.

    2015-01-01

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

  7. MENTAL DEFICIENCY. SECOND EDITION.

    Science.gov (United States)

    HILLIARD, L.T.; KIRMAN, BRIAN H.

    REVISED TO INCLUDE LEGISLATIVE AND ADMINISTRATIVE PROCEDURES NEW IN BRITAIN SINCE THE 1957 EDITION, THE TEXT INCLUDES RECENT ADVANCES IN ETIOLOGY, PATHOLOGY, AND TREATMENT OF MENTAL DEFICIENCY. CONSIDERATION OF THE BACKGROUND OF MENTAL DEFICIENCY INCLUDES HISTORICAL AND LEGAL ASPECTS, THE SOCIAL BACKGROUND OF MENTAL DEFECT, PRENATAL CAUSES OF…

  8. Iron-Deficiency Anemia

    Medline Plus

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

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español ... of growth and development. Inability To Absorb Enough Iron Even if you have enough iron in your ...

  10. G6PD Deficiency

    Science.gov (United States)

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... other conditions to prevent you from developing iron-deficiency anemia. Foods that are good sources of iron include dried ... patterns. Increase your daily intake of iron-rich foods to help treat your iron-deficiency anemia. See Prevention strategies to learn about foods ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español What Is ... all types of anemia . Signs and Symptoms of Anemia The most common symptom of all types of ...

  13. Iron-Deficiency Anemia

    Medline Plus

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

  14. 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)....

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your doctor may recommend you eat heart- ... infections Motor or cognitive development delays in ... with chronic conditions, iron-deficiency anemia can make their condition worse or result ...

  16. Iron-Deficiency Anemia

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

  17. Iron-Deficiency Anemia

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    Full Text Available ... women of childbearing age has iron-deficiency anemia. Pregnant women also are at higher risk for the condition ... for the fetus' growth. About half of all pregnant women develop iron-deficiency anemia. The condition can increase ...

  18. Iron-Deficiency Anemia

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

  19. Iron-Deficiency Anemia

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

  20. Iron-Deficiency Anemia

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

  1. Iron-Deficiency Anemia

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    Full Text Available ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to a condition ... symptoms of iron-deficiency anemia apply to all types of anemia . Signs and Symptoms of Anemia The most common ...

  2. Iron deficiency anemia

    Science.gov (United States)

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

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is severe, you ... get a transfusion of red blood cells. A blood transfusion is a safe, common procedure in which blood ...

  4. Urethral adenocarcinoma in a mental deficiency patient.

    Science.gov (United States)

    Ramírez-Sevilla, Cristóbal; Llopis-Manzanera, Juan; Romero-Martín, José Antonio; García-Vidal, Olga

    2014-12-01

    To report the case of a urethral tumour in a patient with mental deficiency. Complete resection of the tumour was performed and the pathologic examination informed the presence of urethral adenocarcinoma. The patient is disease-free twelve months after surgery. Bibliographic review for diagnosis and treatment was performed.

  5. Performance of the Androgen Deficiency in Aging Male ...

    African Journals Online (AJOL)

    failure, chronic liver disease, chronic renal failure, tuberculosis, chronic obstructive pulmonary diseases, acquired immunodeficiency syndrome and malignancy. Relevant socio- demographic and diabetes-related information were documented. Clinical evaluation of androgen deficiency. Participants completed the original ...

  6. Iron-Deficiency Anemia

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    Full Text Available ... an MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such ... explain our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and ...

  7. Iron-Deficiency Anemia

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    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... or an inability to absorb enough iron from food. Blood Loss When you lose blood, you lose ...

  8. Iron-Deficiency Anemia

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

  9. Iron-Deficiency Anemia

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    Full Text Available ... Look for Treatment will discuss medicines and eating pattern changes that your doctors may recommend if you ... iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... is caused by strong muscle contractions and the impact of feet repeatedly striking the ground, such as ... Treatment will explain treatment-related complications or side effects. Diagnosis Iron-deficiency anemia may be detected during ...

  11. Iron-Deficiency Anemia

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    Full Text Available ... also can cause internal bleeding. Other At-Risk Groups People who get kidney dialysis treatment may develop ... and young children and women are the two groups at highest risk for iron-deficiency anemia. Special ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... Safety Sleep Science and Sleep Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, ... symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in ...

  13. Iron-Deficiency Anemia

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

  14. Iron-Deficiency Anemia

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    Full Text Available ... the first prenatal visit. For pregnant women, medical care during pregnancy usually includes screening for anemia. Also, ... while checking for other problems. Specialists Involved Primary care doctors often diagnose and treat iron-deficiency anemia. ...

  15. Iron-Deficiency Anemia

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    Full Text Available ... Heavy blood loss during their monthly periods Other risk factors for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for ...

  16. Iron-Deficiency Anemia

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    Full Text Available ... in which your blood has a lower than normal number of red blood cells. Red blood cells ... cells it does make have less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness ...

  17. Iron-Deficiency Anemia

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    Full Text Available ... to improve health through research and scientific discovery. Improving health with current research Learn about the following ... donors for low iron stores. Reliable point-of-care testing may help identify iron deficiency before potentially ...

  18. Iron-Deficiency Anemia

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    Full Text Available ... apply to all types of anemia . Signs and Symptoms of Anemia The most common symptom of all ... growth and development, and behavioral problems. Signs and Symptoms of Iron Deficiency Signs and symptoms of iron ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... For this treatment, iron is injected into a muscle or an IV line in one of your ... body can damage your organs. You may have fatigue (tiredness) and other symptoms of iron-deficiency anemia ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ... because your need for iron increases during these times of growth and development. Inability To Absorb Enough ...

  1. Iron-Deficiency Anemia

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

  2. Iron-Deficiency Anemia

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    Full Text Available ... Search Form Search the NHLBI, use the drop down list to select: the entire site, the Health ... who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a ...

  3. Manganese deficiency in plants

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Heavy Menstrual Bleeding (Centers for Disease Control and Prevention) Iron - Health Professional Fact Sheet (NIH) Iron Dietary Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library ...

  5. Iron-Deficiency Anemia

    Medline Plus

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

  6. Iron-Deficiency Anemia

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    Full Text Available ... a frequent blood donor living in New York City? This study is looking at how iron-deficiency ... National Institute of Health Department of Health and Human Services OIG USA.gov

  7. Iron-Deficiency Anemia

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    Full Text Available ... lead in their blood from their environment or water. Lead interferes with the body’s ability to make ... explain tests and procedures that your doctor may use to diagnose iron-deficiency anemia. Living With will ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... for iron-deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for who ... heavy menstrual flow, your doctor may prescribe birth control pills to help reduce your monthly blood flow. ...

  9. Iron-Deficiency Anemia

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

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

  11. Iron-Deficiency Anemia

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    Full Text Available ... need for iron increases during these periods of growth and development, and it may be hard to get the ... iron-deficiency anemia, red blood cells will be small in size with an MCV of less than ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... Treatment will explain treatment-related complications or side effects. Diagnosis Iron-deficiency anemia may be detected during ... to your doctor if you are experiencing side effects such as a bad metallic taste, vomiting, diarrhea, ...

  13. Iron-Deficiency Anemia

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    Full Text Available ... iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, ... preventing, diagnosing, and treating heart, lung, blood, and sleep disorders. Learn more about participating in a clinical ...

  14. Iron-Deficiency Anemia

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    Full Text Available ... in infants and small children Heavy menstrual periods Injury or surgery Urinary tract bleeding Consuming less than recommended daily amounts of iron Iron-deficiency anemia can be caused by getting less than the recommended daily ...

  15. Iron-Deficiency Anemia

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    Full Text Available ... Grants & Training Grants and Training Home Policies and Guidelines Funding Opportunities and Contacts Training and Career Development ... Study - Red Blood Cells From Iron-deficient Donors: Recovery and Storage Quality. Learn more about participating in ...

  16. Iron-Deficiency Anemia

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    Full Text Available ... diagnose iron-deficiency anemia. Living With will discuss what your doctor may recommend to prevent your iron- ... colon under sedation to view the colon directly. What if my doctor thinks something else is causing ...

  17. Iron-Deficiency Anemia

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

  18. Iron-Deficiency Anemia

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    Full Text Available ... people who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a strong urge to move the legs. This urge to move often occurs with strange ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... leafy green vegetables like turnip greens and spinach. Treatment To Stop Bleeding If blood loss is causing ... flow. In some cases, surgery may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... also often take other medicines—such as proton pump inhibitors, anticoagulants, or blood thinners—that may cause iron-deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood thinners ...

  1. Iron-Deficiency Anemia

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    Full Text Available ... MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as ... our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and Complications ...

  2. Iron-Deficiency Anemia

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    Full Text Available ... size of your liver and spleen Do a pelvic and rectal exam to check for internal bleeding ... bleeding in the stomach, upper intestines, colon, or pelvic organs. Treatment Treatment for iron-deficiency anemia will ...

  3. Iron-Deficiency Anemia

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    Full Text Available ... striking the ground, such as with marathon runners. Sex Girls and women between the ages of 14 ... developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, eggs, ...

  4. Iron-Deficiency Anemia

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

  5. Iron-Deficiency Anemia

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    Full Text Available ... deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood thinners increase the likelihood of bleeding ... oranges, strawberries, and tomatoes, may help increase your absorption of iron. If you are pregnant, talk to ...

  6. Iron-Deficiency Anemia

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    Full Text Available ... recommended amounts of iron, in milligrams (mg) at different ages and stages of life. Until the teen ... mean corpuscular volume (MCV) that would suggest anemia. Different tests help your doctor screen for iron-deficiency ...

  7. Iron-Deficiency Anemia

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    Full Text Available ... can slow the absorption of iron. Screening and Prevention Eating a well-balanced diet that includes iron- ... deficiency anemia The Centers for Disease Control and Prevention (CDC) has developed guidelines for who should be ...

  8. Iron-Deficiency Anemia

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

  9. Iron-Deficiency Anemia

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    Full Text Available ... improved health for people with iron-deficiency anemia. Recipient Epidemiology Donor Studies program findings help to protect blood donors . NHLBI’s Recipient Epidemiology Donor Studies (REDS) program , which began in ...

  10. Iron-Deficiency Anemia

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

  11. Iron-Deficiency Anemia

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

  12. Iron-Deficiency Anemia

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    Full Text Available ... mouth Pale skin Swelling or soreness of the tongue Common symptoms of iron-deficiency anemia include: Chest ... Check for bleeding. Look to see whether your tongue, nails, or inner lining of your eyelids are ...

  13. Iron-Deficiency Anemia

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

  14. Iron-Deficiency Anemia

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    Full Text Available ... specialists also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs ... information, go to the Health Topics Blood Transfusion article. Iron Therapy If you have severe anemia, your ...

  15. Iron-Deficiency Anemia

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    Full Text Available ... re more likely to develop iron-deficiency anemia. Vegetarian diets can provide enough iron if you eat ... which are the best sources of iron. However, vegetarian diets can provide enough iron if you eat ...

  16. Iron-Deficiency Anemia

    Science.gov (United States)

    ... re more likely to develop iron-deficiency anemia. Vegetarian diets can provide enough iron if you eat ... which are the best sources of iron. However, vegetarian diets can provide enough iron if you eat ...

  17. Iron-Deficiency Anemia

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    Full Text Available ... may be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk ... upper endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily recommended ...

  18. Vitamin D Deficiency

    Science.gov (United States)

    ... inflammation) • Some lymphomas, a type of cancer Other risk factors for vitamin D deficiency ... medications • Frequent falls in older adults, or a non-traumatic fracture (bone break without ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... to 11 mg for children ages 7 to 12 months, and down to 7 mg for children ... deficiency at certain ages: Infants between 6 and 12 months, especially if they are fed only breast ...

  20. Iron-Deficiency Anemia

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    Full Text Available ... Disorders Lung Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  1. Iron-Deficiency Anemia

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

  2. Iron-Deficiency Anemia

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    Full Text Available ... lead in their blood from their environment or water. Lead interferes with the body’s ability to make ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  3. Iron-Deficiency Anemia

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

  4. Iron-Deficiency Anemia

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    Full Text Available ... can cause complications and may be life-threatening. Signs and Symptoms Common signs of iron-deficiency anemia ... abnormal heart rhythms and depression. Learn the warning signs of serious complications and have a plan Tell ...

  5. Iron-Deficiency Anemia

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    Full Text Available ... the cause and severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron ...

  6. Iron-Deficiency Anemia

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    Full Text Available ... iron-deficiency anemia. Learn about the current and future NHLBI efforts to improve health through research and ... blood donors. Cardiovascular Health Study identifies predictors of future health problems in older adults. The NHLBI-sponsored ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... often take other medicines—such as proton pump inhibitors, anticoagulants, or blood thinners—that may cause iron-deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood thinners increase ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as ... to iron-deficiency anemia. We are interested in studying in more detail how iron levels are regulated ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as ... infancy has lasting effects. We are interested in learning how having iron-deficiency anemia early in life ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... GI tract. Inflammation from congestive heart failure or obesity . These chronic conditions can lead to inflammation that may cause iron-deficiency anemia. Are you curious about how ...

  11. Iron-Deficiency Anemia

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    Full Text Available ... some stages of life, such as pregnancy and childhood, it may be hard to get enough iron ... supports concerns that iron deficiency during infancy and childhood can have long-lasting, negative effects on brain ...

  12. Iron-Deficiency Anemia

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    Full Text Available ... supports concerns that iron deficiency during infancy and childhood can have long-lasting, negative effects on brain health, the American Academy of Pediatrics recommends testing all ...

  13. Iron-Deficiency Anemia

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    Full Text Available ... disease also often take other medicines—such as proton pump inhibitors, anticoagulants, or blood thinners—that may cause iron-deficiency anemia. Proton pump inhibitors interfere with iron absorption, and blood ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as ... Learn about exciting research areas that NHLBI is exploring about iron-deficiency anemia. Read more New treatments ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... anemia at 1 year of age. Women and Girls Women of childbearing age may be tested for ... be screened for iron deficiency, and how often: Girls aged 12 to 18 and women of childbearing ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... risk for iron-deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who ... other dark green leafy vegetables Prune juice The Nutrition Facts labels on packaged foods will show how ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... treat iron-deficiency anemia. These doctors include pediatricians, family doctors, gynecologists/obstetricians, and internal medicine specialists. A hematologist (a blood disease specialist), a gastroenterologist (a digestive system specialist), and ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... screened for iron deficiency, and how often: Girls aged 12 to 18 and women of childbearing age ... For this treatment, iron is injected into a muscle or an IV line in one of your ...

  19. Iron-Deficiency Anemia

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    Full Text Available ... stomach also can interfere with iron absorption. Risk Factors Infants and Young Children Infants and young children ... blood loss during their monthly periods Other risk factors for iron-deficiency anemia The Centers for Disease ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this Health ... bleeding in the GI tract. Inflammation from congestive heart failure or obesity . These chronic conditions can lead to ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... All News NHLBI News NHLBI in the Press Research Features All Events Past Events Upcoming Events About ... NHLBI Entire Site Health Topics News & Resources Intramural Research Home / < Back To Health Topics / Iron-Deficiency Anemia ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the likelihood of bleeding in the GI tract. Inflammation from congestive heart failure or obesity . These chronic conditions can lead to inflammation that may cause iron-deficiency anemia. Are you ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia may cause the following complications: Depression Heart problems. If you do not have enough ... prevent complications such as abnormal heart rhythms and depression. Learn the warning signs of serious complications and ...

  4. Iron-Deficiency Anemia

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

  5. Iron-Deficiency Anemia

    Medline Plus

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

  6. Iron-Deficiency Anemia

    Medline Plus

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

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs and ... Reticulocytes are young, immature red blood cells. Over time, reticulocytes become mature red blood cells that carry ...

  8. Iron-Deficiency Anemia

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    Full Text Available ... to prevent you from developing iron-deficiency anemia. Foods that are good sources of iron include dried ... tofu, dried fruits, and dark green leafy vegetables. Foods rich in vitamin C, such as oranges, strawberries, ...

  9. Iron-Deficiency Anemia

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    Full Text Available ... breastfeeding women older than 18 need 9 mg. Problems absorbing iron Even if you consume the recommended ... prevention and treatment of heart, lung, blood, and sleep disorders, including iron-deficiency anemia. Learn about the ...

  10. Iron-Deficiency Anemia

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    Full Text Available ... endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily recommended iron ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ...

  11. Iron-Deficiency Anemia

    Medline Plus

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

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... as ice, dirt, paint, or starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause the following complications: Depression Heart problems. If you ...

  13. Iron-Deficiency Anemia

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    Full Text Available ... breastfeeding women older than 18 need 9 mg. Problems absorbing iron Even if you consume the recommended ... infancy has lasting effects. We are interested in learning how having iron-deficiency anemia early in life ...

  14. Iron-Deficiency Anemia

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    Full Text Available ... a frequent blood donor living in New York City? This study is looking at how iron-deficiency ... frequently. This study is located in New York City, and is recruiting by invitation only. View more ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Older adults, especially those over age 65. Unhealthy environments Children who have lead in their blood from ... a frequent blood donor living in New York City? This study is looking at how iron-deficiency ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Diseases Heart and Vascular Diseases Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and Epidemiology Studies ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ...

  17. Iron Deficiency Anemia in a Distance Runner

    OpenAIRE

    Clement, D. B.; Taunton, J. E.; Poskitt, Kenneth

    1982-01-01

    This paper discusses a case study of a 19-year-old male student who engaged in daily long distance running and presented with complaints of fatigue and dizziness. Laboratory test revealed a hemoglobin of 7.7 g/dl and a bone marrow negative for iron. After a complete evaluation no source of blood loss was identified. His iron deficient state may be caused by his exposure to long distance running for some years. Recent work from Sweden reports iron deficiency in eight runners, demonstrated by b...

  18. Completely continuous and weakly completely continuous abstract ...

    Indian Academy of Sciences (India)

    approximate identity for B, bounded in A. In addition, a necessary condition for the weak complete continuity of A is ... continuous elements of a Banach algebra A and symmetric abstract Segal algebras B with respect to A, in the case ..... [13] Hewitt E and Ross K A, Abstract harmonic analysis, 2nd edn. I, II (1970) (New York,.

  19. Nutritional deficiencies after sleeve gastrectomy: can they be predicted preoperatively?

    Science.gov (United States)

    Ben-Porat, Tair; Elazary, Ram; Yuval, Jonathan B; Wieder, Ariela; Khalaileh, Abed; Weiss, Ram

    2015-01-01

    Nutritional deficiencies are common among morbidly obese patients. Data are scarce for patients who have undergone laparoscopic sleeve gastrectomy (LSG). The aim of the study is to clarify the prevalence of deficiencies and to identify risk factors for postoperative deficiencies. Hebrew University, Israel. Preoperative and 1-year postoperative data were collected. We included anthropometric parameters, obesity-related co-morbidities, and laboratory findings. There were 192 candidates. Seventy-seven of them completed follow-ups at 12 months. Before surgery, 15% had anemia. Deficiencies of iron, folate, and B12 were 47%, 32%, and 13%, respectively. Women were more deficient in iron (56% women, 26% men, Psurgery, low levels of vitamin D and elevated parathyroid hormone (PTH) were 99% and 41%, respectively. One year postsurgery, the deficiencies of hemoglobin and vitamin B12 worsened (20% and 17%, Pdeficiencies of iron, folate, vitamin D, and PTH improved (28%, 21%, 94%, and 10%, respectively). Deficiencies of hemoglobin, folate, and B12 before surgery were predictors for deficiencies 1 year after surgery (P = .006 OR = .090; P = .012 OR = .069; P = .062 OR = .165, respectively). LSG had a modest effect on nutritional deficiencies in our patients at 1-year postsurgery. Focusing on the preoperative nutritional status and tailoring a specific supplemental program for each individual should prevent postoperative deficiencies. Copyright © 2015 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

  20. [Effects of copper deficiency on iron metabolism in rats].

    Science.gov (United States)

    Xiao, Fei; Wang, Chaoxu; Yang, Li

    2013-07-01

    To study the effects of copper deficiency on iron metabolism, the expression of IRP mRNA and Fn mRNA and transferrin receptor mRNA in rats. Forty clean male SD rats were randomly divided into four groups according to body weight and there were 10 rats in each group. The groups are normal iron and copper control group (group I), copper deficiency group (group II), normal iron and copper slightly deficient group (group III), both iron and copper slightly deficient group (group IV). After 8 weeks, all the rats were killed by sodium pentobarbital anesthesia and all samples were collected and detected for gene expression. Compared with the controls, the contents of serum iron and serum ferritin in completely copper deficiency group decreased (P copper deficiency (P copper deficiency group was significantly increased (P copper deficiency group was significantly decreased (P copper deficiency through influencing the absorption, the results indicate that copper deficiency influences iron homeostasis in cells through affecting the expression of IRP2 and the activity of IRP-RNA combination which change the expressions of ferritin and transferrin mRNA.

  1. Buffalo complete streets.

    Science.gov (United States)

    2013-01-01

    Buffalo, NY formally adopted a local Complete Streets ordinance in 2008; however, implementation has yet : to become institutionalized. Buffalos Complete Streets Coalition, a multi-sector partnership was convened : to implement a Summit and Neighb...

  2. X-linked mental deficiency.

    Science.gov (United States)

    des Portes, Vincent

    2013-01-01

    Ten percent of cases of intellectual deficiency in boys are caused by genes located on the X chromosome. X-linked mental retardation (XLMR) includes more than 200 syndromes and 80 genes identified to date. The fragile X syndrome is the most frequent syndrome, due to a dynamic mutation with a CGG triplet amplification. Mental retardation is virtually always present. Phonological and syntactic impairments are often combined with pragmatic language impairment and visuospatial reasoning difficulties. A minority fulfill the criteria for autism. In girls, the clinical expression of the complete mutation varies according to the X chromosome inactivation profile. Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thalassemia/mental retardation X-linked), Allan-Herdon-Dudley syndrome (MCT8 gene). Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved. Oligophrenine 1 (OPHN-1) gene mutations lead to vermal dysplasia. PQBP1 gene mutations (Renpenning syndrome) are responsible for moderate to severe mental deficiency, microcephaly, and small stature. Although some forms of XLMR are not very specific and the phenotype for each given gene is somewhat heterogeneous, a clinical diagnostic strategy is emerging. Copyright © 2013 Elsevier B.V. All rights reserved.

  3. Factor XI deficiency

    Directory of Open Access Journals (Sweden)

    Jayme Diamant

    2004-06-01

    Full Text Available We describe a patient with a prolonged aPTT who was diagnosedas having factor XI deficiency after a rather large hematoma wasformed after angiography. Factor XI deficiency affects 1 in 1 millionpeople, but it is more common in Ashkenazim with a gene frequencyof 5% to 11%, being 0.3% homozygotes. These individuals usuallydo not present hemorrhagic events, except in cases of trauma orsurgery. These patients should be identified by routine coagulationscreening; bleeding could be prevented by use of fresh humanplasma or plasma concentrates.

  4. Vitamin Excess and Deficiency.

    Science.gov (United States)

    Diab, Liliane; Krebs, Nancy F

    2018-04-01

    The published literature supports the high prevalence of supplement use in children and adolescents in the United States. Pediatricians today are faced with questions from parents and patients about the benefits, safety, efficacy, and correct dose of vitamins and minerals. In this article, we review 7 vitamins with the most clinical relevance as judged by abundance in food, risks and symptoms of deficiency, and potential for toxicity. Specifically, we focus on possible clinical scenarios that can be indicative of nutritional deficiency. We synthesize and summarize guidelines from nutrition experts, various medical societies, the World Health Organization, and the American Academy of Pediatrics. © American Academy of Pediatrics, 2018. All rights reserved.

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who have heavy periods ... because blood is lost during dialysis. Also, the kidneys are no longer able to make ... Centers for Disease Control and Prevention (CDC) has developed guidelines for ...

  6. Vitamin B12 deficiency

    Science.gov (United States)

    Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, sub...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... funding on iron-deficiency anemia. We stimulate high-impact research. Our Trans-Omics for Precision Medicine (TOPMed) Program now includes participants with anemia, which may help us understand how genes contribute to differences in disease severity and how patients respond to treatment. The ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... woman's risk for a premature or low-birth-weight baby. Adults Who Have Internal Bleeding Adults who have internal bleeding, such as intestinal bleeding, can develop iron-deficiency anemia due to blood loss. Certain conditions, such as colon cancer and bleeding ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Follow a high-fiber diet. Large amounts of fiber can slow the absorption of iron. Screening and Prevention Eating a well-balanced diet that includes iron-rich foods may help you prevent iron-deficiency anemia. Taking ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... donors for low iron stores. Reliable point-of-care testing may help identify iron deficiency before potentially harmful donations and protect individuals from needing iron supplementation. Advancing research for improved health In support of our mission , we are committed ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... proof packages for supplements can help prevent overdosing in children. Because recent research supports concerns that iron deficiency ... within months. Supplements come in pill form or in drops for children. Large amounts of iron can be harmful, so ...

  12. Iron deficiency in children

    African Journals Online (AJOL)

    Anaemia is a worldwide health problem affecting developed and developing countries. Children <5 years of age and women of child-bearing age are the most vulnerable. Iron deficiency anaemia (IDA) ranked 15th and 14th in the global disability-adjusted life-years in. 1990 and 2010, respectively.[1] Globally, the ...

  13. Diagnosing oceanic nutrient deficiency

    Science.gov (United States)

    Moore, C. Mark

    2016-11-01

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

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... ages of 14 and 50 years need more iron than boys and men of the same age. Women are at higher ... anemia. In iron-deficiency anemia, blood levels of iron will be low, or less than 10 micromoles per liter (mmol/L) for both men and women. Normal levels are 10 to 30 ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... develop restless legs syndrome (RLS). RLS is a disorder that causes a strong urge to move the legs. This ... may be a sign of infection, a blood disorder, or another ... may be a clue as to the cause of your anemia. In iron-deficiency anemia, for ...

  16. 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

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Activities Obesity, Nutrition, and Physical Activity Population and Epidemiology Studies Women’s Health All Science A-Z Grants ... health for people with iron-deficiency anemia. Recipient Epidemiology Donor Studies program findings help to protect blood ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... an MCV of less than 80 femtoliters (fL). Prevention strategies If you have certain risk factors , such as if you are following a ... unhealthy environments, or other factors that increase your risk of developing iron-deficiency ... to Screening and Prevention to review tests to screen for and strategies ...

  19. Iron-Deficiency Anemia

    Medline Plus

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

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Frequent blood tests, especially in infants and small children Heavy menstrual periods Injury or surgery Urinary tract bleeding Consuming less than recommended daily amounts of iron Iron-deficiency anemia ... iron intake for children and adults. The table lists the recommended amounts ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature or very small newborns . In collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how best to treat ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Site Health Topics News & Resources Intramural Research ... Is Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, ...

  3. Anemia - B12 deficiency

    Science.gov (United States)

    ... lack (deficiency) of vitamin B12 . Causes Your body needs vitamin B12 to make red blood cells. In order ... rest of your life. Some people may also need to take vitamin B12 supplements by mouth. Treatment may no longer ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Medicine (TOPMed) Program Non-NHLBI resources Anemia (National Library of Medicine, MedlinePlus) Anemia in Chronic Kidney Disease ( ... Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library of Medicine, MedlinePlus) Building 31 31 Center Drive ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... research and scientific discovery. Improving health with current research Learn about the following ways that NHLBI continues to translate ... Research Portfolio Online Reporting Tools (RePORT) to learn about research that NHLBI is funding on iron-deficiency anemia. ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Activity Population and Epidemiology Studies Women’s Health All Science A-Z ... 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 ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may be a sign of infection, a blood disorder, or another condition. Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. In iron-deficiency anemia, for ...

  8. Iron-Deficiency Anemia

    Medline Plus

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

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or advise you to eat more iron-rich foods. This not only will help you avoid iron-deficiency anemia, but also may lower your risk of having a low-birth-weight baby. Signs, Symptoms, and Complications The signs and ...

  10. Alpha1-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Stolk, Jan; Seersholm, Niels; Kalsheker, Noor

    2006-01-01

    The Alpha One International Registry (AIR), a multinational research program focused on alpha1-antitrypsin (AAT) deficiency, was formed in response to a World Health Organization recommendation. Each of the nearly 20 participating countries maintains a national registry of patients with AAT defic...... epidemiology, inflammatory and signalling processes, therapeutic advances, and lung imaging techniques....

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... may ask whether you might be pregnant. Physical Exam Your doctor will do a physical exam to look for signs of iron-deficiency anemia. ... liver and spleen Do a pelvic and rectal exam to check for internal bleeding Diagnostic Tests and ...

  12. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how best to treat premature newborns with low hemoglobin levels. We also are hoping to determine which iron supplements work best to treat iron-deficiency anemia in children ...

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron added). If you don't eat these foods regularly, or if you don't take an iron supplement, you're more likely to develop iron-deficiency anemia. Vegetarian diets can provide enough iron if you eat ...

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... is blood loss during dialysis. People who have chronic kidney disease also often take other medicines—such as proton ... reduces iron absorption. Other treatments If you have chronic kidney disease and iron-deficiency anemia, your doctor may recommend ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Working at the NHLBI Contact and FAQs Accessible Search Form Search the NHLBI, use the drop down list to ... treatment of blood diseases, including iron-deficiency anemia. Search the NIH Research Portfolio Online Reporting Tools (RePORT) ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... where there is blood loss during dialysis. People who have chronic kidney disease also often take other medicines—such as proton ... body. People with severe iron-deficiency anemia or who have chronic conditions such as kidney disease or celiac disease may be more likely to ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... interferes with the body’s ability to make hemoglobin. Family history and genetics Von Willebrand disease is an ... clamping of your newborn’s umbilical cord at the time of delivery. This may help prevent iron-deficiency ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... preventing, diagnosing, and treating heart, lung, blood, and sleep disorders. Are you a frequent blood donor living in New York City? This study is looking at how iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... your doctor about delayed clamping of your newborn’s umbilical cord at the time of delivery. This may help ... Common symptoms of iron-deficiency anemia include: Chest pain Coldness in the hands and feet Difficulty concentrating ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... normally stores but has used up. Increase your intake of vitamin C to help your body absorb iron. Avoid drinking black tea, which reduces iron absorption. Other treatments If you have chronic kidney disease and iron-deficiency anemia, your doctor may recommend ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Activities Obesity, Nutrition, and Physical Activity Population and Epidemiology Studies Women’s Health All Science A-Z Grants & ... health for people with iron-deficiency anemia. Recipient Epidemiology Donor Studies program findings help to protect blood ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as meat and fish, may result in you getting less than the recommended daily amount of iron. Frequent blood donation. Individuals who donate blood often may be ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a ... Topics Anemia Blood Tests Blood Transfusion Restless Legs Syndrome Other Resources Non-NHLBI Resources Anemia (MedlinePlus) "Dietary ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... and low-birth-weight babies (weighing less than 5.5 pounds) are at even greater risk for iron- ... loss during their monthly periods. About 1 in 5 women of childbearing age has iron-deficiency anemia. ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other ... poorly because of money, social, health, or other problems. Follow a very low-fat diet over a ...

  6. MCAD deficiency in Denmark

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  7. Latino College Completion: Hawaii

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  8. Latino College Completion: Nevada

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  9. Completely random signed measures

    DEFF Research Database (Denmark)

    Hellmund, Gunnar

    Completely random signed measures are defined, characterized and related to Lévy random measures and Lévy bases.......Completely random signed measures are defined, characterized and related to Lévy random measures and Lévy bases....

  10. Latino College Completion: Virginia

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  11. Completeness, supervenience and ontology

    International Nuclear Information System (INIS)

    Maudlin, Tim W E

    2007-01-01

    In 1935, Einstein, Podolsky and Rosen raised the issue of the completeness of the quantum description of a physical system. What they had in mind is whether or not the quantum description is informationally complete, in that all physical features of a system can be recovered from it. In a collapse theory such as the theory of Ghirardi, Rimini and Weber, the quantum wavefunction is informationally complete, and this has often been taken to suggest that according to that theory the wavefunction is all there is. If we distinguish the ontological completeness of a description from its informational completeness, we can see that the best interpretations of the GRW theory must postulate more physical ontology than just the wavefunction

  12. SOURgraphs for efficient completion

    Directory of Open Access Journals (Sweden)

    Christopher Lynch

    1998-12-01

    Full Text Available We introduce a data structure called SOUR graphs and present an efficient Knuth-Bendix completion procedure based on it. SOUR graphs allow for a maximal structure sharing of terms in rewriting systems. The term representation is a dag representation, except that edges are labelled with equational constraints and variable renamings. The rewrite rules correspond to rewrite edges, the unification problems to unification edges. The Critical Pair and Simplification inferences are recognized as patterns in the graph and are performed as local graph transformations. Our algorithm avoids duplicating term structure while performing inferences, which causes exponential behavior in the standard procedure. This approach gives a basis to design other completion algorithms, such as goal-oriented completion, concurrent completion and group completion procedures.

  13. Genetics Home Reference: prolidase deficiency

    Science.gov (United States)

    ... instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are ... Names for This Condition hyperimidodipeptiduria imidodipeptidase deficiency PD peptidase deficiency Related Information How are genetic conditions and ...

  14. Complete Ureteral Avulsion

    Directory of Open Access Journals (Sweden)

    V. Gupta

    2005-01-01

    Full Text Available Complete avulsion of the ureter is one of the most serious complications of ureteroscopy. It requires open or laparoscopic intervention for repair. This case report emphasizes its management and presents recommendations for prevention in current urological practice.

  15. ALPHA,·ANTITRYPSIN DEFICIENCY*

    African Journals Online (AJOL)

    1971-02-06

    Feb 6, 1971 ... Lieberman," in fact, found that 15·2% of 66 patients hospitalized with pulmonary emphysema had heterozygous alpha,-antitrypsin deficiency. The over-all incidence of the deficiency was 25'8% in this group. Of patients under the age of 50 years, 47·8% had deficient levels. If such observations are confirmed ...

  16. 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

  17. [Selective immunoglobulin A deficiency].

    Science.gov (United States)

    Binek, Alicja; Jarosz-Chobot, Przemysława

    2012-01-01

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

  18. Deficiently extremal Gorenstein algebras

    Indian Academy of Sciences (India)

    Thus, R/I is a Cohen–. Macaulay algebra of Type 1, and hence R/I is Gorenstein. In view of Theorem 2.1, R/I is a nearly (or 1-deficient) extremal Gorenstein algebra. We now shall describe a result of Bruns and Hibi [1] which characterizes the Stanley–. Reisner rings having 2-pure but not 2-linear resolutions. Theorem 2.3.

  19. Iron deficiency anaemia

    OpenAIRE

    Barragán-Ibañez, G.; Santoyo-Sánchez, A.; Ramos-Peñafiel, C.O.

    2016-01-01

    Iron deficiency anaemia is a public health problem that affects all age groups. In Mexico, it is a common cause of morbidity, and accounts for 50% of cases of anaemia worldwide. It is more prevalent during the first 2 years of life, during adolescence and pregnancy. It is characterised by fatigue, weakness, pallor and koilonychia. Treatment is based on dietary recommendations and oral and intravenous iron supplements. In this review article, we summarise the characteristics of iron efficiency...

  20. Biotin and biotinidase deficiency

    OpenAIRE

    Zempleni, Janos; Hassan, Yousef I; Wijeratne, Subhashinee SK

    2008-01-01

    Biotin is a water-soluble vitamin that serves as an essential coenzyme for five carboxylases in mammals. Biotin-dependent carboxylases catalyze the fixation of bicarbonate in organic acids and play crucial roles in the metabolism of fatty acids, amino acids and glucose. Carboxylase activities decrease substantially in response to biotin deficiency. Biotin is also covalently attached to histones; biotinylated histones are enriched in repeat regions in the human genome and appear to play a role...

  1. Orexin deficiency and narcolepsy

    OpenAIRE

    Sakurai, Takeshi

    2013-01-01

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

  2. Adenylosuccinate lyase deficiency.

    Science.gov (United States)

    Jurecka, Agnieszka; Zikanova, Marie; Kmoch, Stanislav; Tylki-Szymańska, Anna

    2015-03-01

    Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by the presence in the biologic fluids of two dephosphorylated substrates of ADSL enzyme: succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). More than 80 individuals with ADSL deficiency have been identified, but incidence of the disease remains unknown. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The fatal neonatal form has onset from birth and presents with fatal neonatal encephalopathy with a lack of spontaneous movement, respiratory failure, and intractable seizures resulting in early death within the first weeks of life. Patients with type I (severe form) present with a purely neurologic clinical picture characterized by severe psychomotor retardation, microcephaly, early onset of seizures, and autistic features. A more slowly progressing form has also been described (type II, moderate or mild form), as having later onset, usually within the first years of life, slight to moderate psychomotor retardation and transient contact disturbances. Diagnosis is facilitated by demonstration of SAICAr and S-Ado in extracellular fluids such as plasma, cerebrospinal fluid and/or followed by genomic and/or cDNA sequencing and characterization of mutant proteins. Over 50 ADSL mutations have been identified and their effects on protein biogenesis, structural stability and activity as well as on purinosome assembly were characterized. To date there is no specific and effective therapy for ADSL deficiency.

  3. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

    International Nuclear Information System (INIS)

    Alangari, Abdullah; AlHarbi, Abdullah; AlGhonaium Abdulaziz; Santisteban, Ines; Hershfield, Michael

    2009-01-01

    Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT. Expression of PNP (146L) cDNA in E coli indicated that the mutation greatly reduced, but did not completely eliminate PNP activity. (author)

  4. Vitamin B12 Deficiency: Recognition and Management.

    Science.gov (United States)

    Langan, Robert C; Goodbred, Andrew J

    2017-09-15

    Vitamin B12 deficiency is a common cause of megaloblastic anemia, various neuropsychiatric symptoms, and other clinical manifestations. Screening average-risk adults for vitamin B12 deficiency is not recommended. Screening may be warranted in patients with one or more risk factors, such as gastric or small intestine resections, inflammatory bowel disease, use of metformin for more than four months, use of proton pump inhibitors or histamine H2 blockers for more than 12 months, vegans or strict vegetarians, and adults older than 75 years. Initial laboratory assessment should include a complete blood count and serum vitamin B12 level. Measurement of serum methylmalonic acid should be used to confirm deficiency in asymptomatic high-risk patients with low-normal levels of vitamin B12. Oral administration of high-dose vitamin B12 (1 to 2 mg daily) is as effective as intramuscular administration for correcting anemia and neurologic symptoms. Intramuscular therapy leads to more rapid improvement and should be considered in patients with severe deficiency or severe neurologic symptoms. Absorption rates improve with supplementation; therefore, patients older than 50 years and vegans or strict vegetarians should consume foods fortified with vitamin B12 or take vitamin B12 supplements. Patients who have had bariatric surgery should receive 1 mg of oral vitamin B12 per day indefinitely. Use of vitamin B12 in patients with elevated serum homocysteine levels and cardiovascular disease does not reduce the risk of myocardial infarction or stroke, or alter cognitive decline.

  5. Vitamin D deficiency among healthy Egyptian females.

    Science.gov (United States)

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

    2015-01-01

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

  6. Completeness of Lyapunov Abstraction

    DEFF Research Database (Denmark)

    Wisniewski, Rafal; Sloth, Christoffer

    2013-01-01

    the vector field, which allows the generation of a complete abstraction. To compute the functions that define the subdivision of the state space in an algorithm, we formulate a sum of squares optimization problem. This optimization problem finds the best subdivisioning functions, with respect to the ability......This paper addresses the generation of complete abstractions of polynomial dynamical systems by timed automata. For the proposed abstraction, the state space is divided into cells by sublevel sets of functions. We identify a relation between these functions and their directional derivatives along...

  7. Construction completion report

    International Nuclear Information System (INIS)

    1990-01-01

    This Construction Completion Report documents the major construction projects at the Waste Isolation Pilot Plant (WIPP) site and related information on contracts, schedules, and other areas which affected construction. This report is not intended to be an exhaustive detailed analysis of construction, but is a general overview and summary of the WIPP construction. 10 refs., 29 figs

  8. Complete French Teach Yourself

    CERN Document Server

    Graham, Gaelle

    2010-01-01

    The best-selling complete course for a fun and effective way to learn French. This ISBN is for the paperback book. The corresponding audio support (ISBN: 9781444100068) is also available. The book and audio support can also be purchased as a pack (ISBN: 9781444100051).

  9. Primary Carnitine Deficiency

    DEFF Research Database (Denmark)

    Rasmussen, Jan; Hougaard, David M; Sandhu, Noreen

    2017-01-01

    Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight...... in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to detect newborns with PCD in the Faroe Islands. RESULTS: Newborns with PCD and newborns born to mothers with PCD did not differ with regard to Apgar...

  10. Pseudoachondroplasia with immune deficiency

    International Nuclear Information System (INIS)

    Kultursay, N.; Taneli, B.; Cavusoglu, A.

    1988-01-01

    A 5-year old boy was admitted to the hospital with failure to thrive since he was 2 years old, with weakness in his legs and a waddling gait. He has normal mental development. His parents are normal phenotypically and are unrelated. In analysing his pedigree only a grandfather is described to have waddling gait. He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile. The diagnosis of pseudoachondroplasia was made on clinical, radiological and laboratory findings. He also had immune deficiency characterised by low T-lymphocyte populations and a low level of serum immunoglobulin A. (orig.)

  11. Morbidity and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Laursen, Torben; Green, Anders

    2008-01-01

    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......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...

  12. Iron deficiency anaemia

    Directory of Open Access Journals (Sweden)

    G. Barragán-Ibañez

    2016-04-01

    Full Text Available Iron deficiency anaemia is a public health problem that affects all age groups. In Mexico, it is a common cause of morbidity, and accounts for 50% of cases of anaemia worldwide. It is more prevalent during the first 2 years of life, during adolescence and pregnancy. It is characterised by fatigue, weakness, pallor and koilonychia. Treatment is based on dietary recommendations and oral and intravenous iron supplements. In this review article, we summarise the characteristics of iron efficiency anaemia, its metabolism, epidemiology, symptoms and diagnosis, and explore different therapeutic approaches.

  13. Orexin deficiency and narcolepsy.

    Science.gov (United States)

    Sakurai, Takeshi

    2013-10-01

    Orexin deficiency results in the sleep disorder narcolepsy in many mammalian species, including mice, dogs, and humans, suggesting that the orexin system is particularly important for normal regulation of sleep/wakefulness states, and especially for maintenance of wakefulness. This review discusses animal models of narcolepsy; the contribution of each orexin receptor subtype to the narcoleptic phenotypes; and the etiology of orexin neuronal death. It also raises the possibility of novel therapies targeting the orexin system for sleep disorders including insomia and narcolepsy-cataplexy. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Iron deficiency anemia in a distance runner.

    Science.gov (United States)

    Clement, D B; Taunton, J E; Poskitt, K

    1982-05-01

    This paper discusses a case study of a 19-year-old male student who engaged in daily long distance running and presented with complaints of fatigue and dizziness. Laboratory test revealed a hemoglobin of 7.7 g/dl and a bone marrow negative for iron. After a complete evaluation no source of blood loss was identified. His iron deficient state may be caused by his exposure to long distance running for some years. Recent work from Sweden reports iron deficiency in eight runners, demonstrated by bone marrow examination. Further work in West Germany shows low ferritin values in runners. Source of iron loss may be from hemoglobinuria and/or excessive sweating. Hemoglobin and ferritin values should be monitored in runners every six to 12 months.

  15. The complete cosmicomics

    CERN Document Server

    Calvino, Italo

    2014-01-01

    The definitive edition of Calvino’s cosmicomics, bringing together all of these enchanting stories—including some never before translated—in one volume for the first time. In Italo Calvino’s cosmicomics, primordial beings cavort on the nearby surface of the moon, play marbles with atoms, and bear ecstatic witness to Earth’s first dawn. Exploring natural phenomena and the origins of the universe, these beloved tales relate complex scientific concepts to our common sensory, emotional, human world. Now, The Complete Cosmicomics brings together all of the cosmicomic stories for the first time. Containing works previously published in Cosmicomics, t zero, and Numbers in the Dark, this single volume also includes seven previously uncollected stories, four of which have never been published in translation in the United States. This “complete and definitive collection” (Evening Standard) reconfirms the cosmicomics as a crowning literary achievement and makes them available to new generations of reader...

  16. Complete scanpaths analysis toolbox.

    Science.gov (United States)

    Augustyniak, Piotr; Mikrut, Zbigniew

    2006-01-01

    This paper presents a complete open software environment for control, data processing and assessment of visual experiments. Visual experiments are widely used in research on human perception physiology and the results are applicable to various visual information-based man-machine interfacing, human-emulated automatic visual systems or scanpath-based learning of perceptual habits. The toolbox is designed for Matlab platform and supports infra-red reflection-based eyetracker in calibration and scanpath analysis modes. Toolbox procedures are organized in three layers: the lower one, communicating with the eyetracker output file, the middle detecting scanpath events on a physiological background and the one upper consisting of experiment schedule scripts, statistics and summaries. Several examples of visual experiments carried out with use of the presented toolbox complete the paper.

  17. CMS Is Finally Completed

    CERN Multimedia

    2008-01-01

    Yet another step in the completion of the Large Hadron Collider was taken yesterday morning, as the final element of the Compact Muon Solenoid was lowered nearly 100 meters bellow ground. After more than eight years of work at the world's most powerful particle accelerator, scientists hope that they will be able to start initial experiments with the LHC until the end of this year.

  18. LEAR construction completed

    CERN Multimedia

    CERN PhotoLab

    1982-01-01

    In July 1982, LEAR construction was completed, the individual systems had been dry-tested. On 16 July, the first 50 MeV (309 MeV/c) protons from Linac 1 were injected and circulated. On 11 October, the first antiprotons from the AA, decelerated in the PS to 609 MeV/c, were injected. Also in 1982, acceleration, deceleration and stochastic cooling were successfully tested. See 9007366 for a more detailed description. See also 8201061, 8204131, 8309026.

  19. SOURgraphs for efficient completion

    OpenAIRE

    Christopher Lynch; Polina Strogova

    1998-01-01

    We introduce a data structure called SOUR graphs and present an efficient Knuth-Bendix completion procedure based on it. SOUR graphs allow for a maximal structure sharing of terms in rewriting systems. The term representation is a dag representation, except that edges are labelled with equational constraints and variable renamings. The rewrite rules correspond to rewrite edges, the unification problems to unification edges. The Critical Pair and Simplification inferences are recogniz...

  20. SHIVA laser: nearing completion

    International Nuclear Information System (INIS)

    Glaze, J.A.; Godwin, R.O.

    1977-01-01

    Construction of the Shiva laser system is nearing completion. This laser will be operating in fall 1977 and will produce over 20 terawatts of focusable power in a subnanosecond pulse. Fusion experiments will begin early in 1978. It is anticipated that thermonuclear energy release equal to one percent that of the incident light energy will be achieved with sub-millimeter deuterium-tritium targets. From other experiments densities in excess of a thousand times that of liquid are also expected

  1. SCT Barrel Assembly Complete

    CERN Multimedia

    L. Batchelor

    As reported in the April 2005 issue of the ATLAS eNews, the first of the four Semiconductor Tracker (SCT) barrels, complete with modules and services, arrived safely at CERN in January of 2005. In the months since January, the other three completed barrels arrived as well, and integration of the four barrels into the entire barrel assembly commenced at CERN, in the SR1 building on the ATLAS experimental site, in July. Assembly was completed on schedule in September, with the addition of the innermost layer to the 4-barrel assembly. Work is now underway to seal the barrel thermal enclosure. This is necessary in order to enclose the silicon tracker in a nitrogen atmosphere and provide it with faraday-cage protection, and is a delicate and complicated task: 352 silicon module powertapes, 352 readout-fibre bundles, and over 400 Detector Control System sensors must be carefully sealed into the thermal enclosure bulkhead. The team is currently verifying the integrity of the low mass cooling system, which must be d...

  2. Mortality and GH deficiency

    DEFF Research Database (Denmark)

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

    2007-01-01

    OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided into chil......OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided...... in CO and AO GHD in both genders, when compared with controls. The hazard ratio (HR) for CO males was 8.3 (95% confidence interval (CI) 4.5-15.1) and for females 9.4 (CI 4.6-19.4). For AO males, HR was 1.9 (CI 1.7-2.2) and for females 3.4 (CI 2.9-4.0). We found a significantly higher HR in AO females...... a significantly increased mortality in GHD patients when compared with controls, possibly due to their hypopituitary status. Mortality was increased in AO female patients when compared with males. For CO and AO GHD, different causes of significantly increased mortality were identified...

  3. Vitamin A deficiency disorders.

    Science.gov (United States)

    McLaren, D S

    1999-08-01

    The major cause of blindness in children worldwide is xerophthalmia caused by vitamin A deficiency. In addition it has other adverse effects, including increased mortality and the term vitamin A deficiency disorders (VADD) has been introduced to cover the whole clinical spectrum of disease. The ocular manifestations of xerophthalmia have been classified and a set of prevalence criteria for the detection of a problem of public health magnitude has been in use for more than two decades. The global prevalence of VADD is now well documented and World Health Organisation (WHO) receives information continuously for updating its data base on the subject. The pathogenesis of the disease is still imperfectly understood, it is not at all clear precisely why certain subjects in vulnerable communities develop xerophthalmia, while the majority are spared. A schedule for treatment of the established case has been available for a long time, but at both clinic and hospital level concentrated sources of vitamin A for treatment are frequently not available. More emphasis needs to be laid on prevention and a choice of methods consisting of large dose supplementation, fortification of food, control of precipitating infections and dietary improvement. The advantages and drawbacks of each are discussed.

  4. Lead toxicity and nutritional deficiencies

    Energy Technology Data Exchange (ETDEWEB)

    Levander, O.A.

    1979-04-01

    Recent data concerning lead toxicity and nutritional deficiencies are summarized. Lead poisoning can be exacerbated by consumption of either deficient or excessive levels of protein. Mineral deficiencies also exaggerate lead poisoning. Evidence for antagonism between lead and nutritional levels of selenium is inconclusive. Vitamin E deficiency and lead poisoning interact to produce an anemia in rats that is more severe than that caused by either treatment alone. A pro-oxidant stress of lead on red blood cells is hypothesized to cause their accelerated destruction. In addition, disruption of normal membrane structure, leading to peroxidative damage, may occur. Calcium deficiencies in children are negatively correlated with lead concentrations in their blood. Other examples of interactions between minerals and lead poisoning are provided. Nutritional deficiencies have been shown to have an additive effect in potentiating lead toxicity in some cases. (112 references, 4 tables)

  5. 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

  6. Glucose-6-phosphatase deficiency.

    Science.gov (United States)

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

    2011-05-20

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

  7. Iron Deficiency and Bariatric Surgery

    OpenAIRE

    J?uregui-Lobera, Ignacio

    2013-01-01

    It is estimated that the prevalence of anaemia in patients scheduled for bariatric surgery is higher than in the general population and the prevalence of iron deficiencies (with or without anaemia) may be higher as well. After surgery, iron deficiencies and anaemia may occur in a higher percentage of patients, mainly as a consequence of nutrient deficiencies. In addition, perioperative anaemia has been related with increased postoperative morbidity and mortality and poorer quality of life aft...

  8. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

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

  9. Genetics Home Reference: transcobalamin deficiency

    Science.gov (United States)

    ... Deficiency Patient Support and Advocacy Resources (3 links) American Association on Intellectual and Developmental Disabilities (AAIDD) CLIMB: Children Living with Inherited Metabolic Diseases ( ...

  10. Nutritional deficiencies after bariatric surgery.

    Science.gov (United States)

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

    2012-09-01

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

  11. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

    Science.gov (United States)

    Choe, Chi-un; Nabuurs, Christine; Stockebrand, Malte C; Neu, Axel; Nunes, Patricia; Morellini, Fabio; Sauter, Kathrin; Schillemeit, Stefan; Hermans-Borgmeyer, Irm; Marescau, Bart; Heerschap, Arend; Isbrandt, Dirk

    2013-01-01

    Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine synthesis or distribution include mental retardation and muscular weakness. Human mutations in l-arginine:glycine amidinotransferase (AGAT), the first enzyme of Cr synthesis, lead to severely reduced Cr and guanidinoacetate (GuA) levels. Here, we report the generation and metabolic characterization of AGAT-deficient mice that are devoid of Cr and its precursor GuA. AGAT-deficient mice exhibited decreased fat deposition, attenuated gluconeogenesis, reduced cholesterol levels and enhanced glucose tolerance. Furthermore, Cr deficiency completely protected from the development of metabolic syndrome caused by diet-induced obesity. Biochemical analyses revealed the chronic Cr-dependent activation of AMP-activated protein kinase (AMPK), which stimulates catabolic pathways in metabolically relevant tissues such as the brain, skeletal muscle, adipose tissue and liver, suggesting a mechanism underlying the metabolic phenotype. In summary, our results show marked metabolic effects of Cr deficiency via the chronic activation of AMPK in a first animal model of AGAT deficiency. In addition to insights into metabolic changes in Cr deficiency syndromes, our genetic model reveals a novel mechanism as a potential treatment option for obesity and type 2 diabetes mellitus.

  12. Statistics a complete introduction

    CERN Document Server

    Graham, Alan

    2013-01-01

    Statistics: A Complete Introduction is the most comprehensive yet easy-to-use introduction to using Statistics. Written by a leading expert, this book will help you if you are studying for an important exam or essay, or if you simply want to improve your knowledge. The book covers all the key areas of Statistics including graphs, data interpretation, spreadsheets, regression, correlation and probability. Everything you will need is here in this one book. Each chapter includes not only an explanation of the knowledge and skills you need, but also worked examples and test questions.

  13. Complete pancreas traumatic transsection

    Directory of Open Access Journals (Sweden)

    H. Hodžić

    2005-02-01

    Full Text Available This report presents a case of a twenty-year old male with complete pancreas breakdown in the middle of its corpus, which was caused by a strong abdomen compression, with injuries of the spleen, the firstjejunumcurve,mesocolon transversum, left kidney, and appereance of retroperitoneal haemathoma. Surgical treatment started 70 minutes after the injury. The treatment consisted of left pancreatectomy with previous spleenectomy, haemostasis of ruptured mesocolon transversum blood vessels, left kidney exploration, suturing of the firstjejunumcurvelession and double abdomen drainage. Posttraumatic pancreatitis which appeared on the second postoperative day and prolonged drain secretion were successfully solved by conservative treatment.

  14. TestComplete cookbook

    CERN Document Server

    Alpaev, Gennadiy

    2013-01-01

    A practical cookbook, with a perfect package of simple, medium, and advanced recipes targeted at basic programmers as well as expert software testers, who will learn to create, manage, and run automated tests. It is packed with problem-solving recipes that are supported by simple examples.If you are a software tester or a programmer who is involved with testing automation using TestComplete, this book is ideal for you! You will be introduced to the very basics of using the tool, as well as polish any previously gained knowledge in using the tool. If you are already aware of programming basics,

  15. Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

    Science.gov (United States)

    Zielonka, Matthias; Makhseed, Nawal; Blau, Nenad; Bettendorf, Markus; Hoffmann, Georg Friedrich; Opladen, Thomas

    2015-01-01

    Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature. Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. The diagnosis was confirmed by a novel homozygous mutation c.530G>C; p.(Arg177Pro) in exon 2 of the SPR gene. Because of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present. A general hypothalamic affection could be excluded. Since dopamine is known to regulate growth-hormone excretion, IGF-1, IGF-BP3, and peripheral thyroid hormone levels were monitored under L-dopa/carbidopa supplementation. Both growth-hormone-dependent factors and thyroid function normalized under treatment. This is the first report describing growth-hormone deficiency and central hypothyroidism in SR deficiency. It extends the phenotypic spectrum of the disease and identifies dopamine depletion as cause for the endocrinological disturbances.

  16. Argininosuccinate lyase deficiency.

    Science.gov (United States)

    Nagamani, Sandesh C S; Erez, Ayelet; Lee, Brendan

    2012-05-01

    The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCDs), a group of inborn errors of hepatic metabolism that often result in life-threatening hyperammonemia. Argininosuccinate lyase (ASL) catalyzes the fourth reaction in this cycle, resulting in the breakdown of argininosuccinic acid to arginine and fumarate. ASL deficiency (ASLD) is the second most common UCD, with a prevalence of ~1 in 70,000 live births. ASLD can manifest as either a severe neonatal-onset form with hyperammonemia within the first few days after birth or as a late-onset form with episodic hyperammonemia and/or long-term complications that include liver dysfunction, neurocognitive deficits, and hypertension. These long-term complications can occur in the absence of hyperammonemic episodes, implying that ASL has functions outside of its role in ureagenesis and the tissue-specific lack of ASL may be responsible for these manifestations. The biochemical diagnosis of ASLD is typically established with elevation of plasma citrulline together with elevated argininosuccinic acid in the plasma or urine. Molecular genetic testing of ASL and assay of ASL enzyme activity are helpful when the biochemical findings are equivocal. However, there is no correlation between the genotype or enzyme activity and clinical outcome. Treatment of acute metabolic decompensations with hyperammonemia involves discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen-scavenging therapy. Dietary restriction of protein and dietary supplementation with arginine are the mainstays in long-term management. Orthotopic liver transplantation (OLT) is best considered only in patients with recurrent hyperammonemia or metabolic decompensations resistant to conventional medical therapy.

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... an inability to absorb enough iron from food. Blood Loss When you lose blood, you lose iron. ... find out how severe the condition is. Complete Blood Count Often, the first test used to diagnose ...

  18. Correntropy Based Matrix Completion

    Directory of Open Access Journals (Sweden)

    Yuning Yang

    2018-03-01

    Full Text Available This paper studies the matrix completion problems when the entries are contaminated by non-Gaussian noise or outliers. The proposed approach employs a nonconvex loss function induced by the maximum correntropy criterion. With the help of this loss function, we develop a rank constrained, as well as a nuclear norm regularized model, which is resistant to non-Gaussian noise and outliers. However, its non-convexity also leads to certain difficulties. To tackle this problem, we use the simple iterative soft and hard thresholding strategies. We show that when extending to the general affine rank minimization problems, under proper conditions, certain recoverability results can be obtained for the proposed algorithms. Numerical experiments indicate the improved performance of our proposed approach.

  19. GOGOL: ACADEMIC AND COMPLETE

    Directory of Open Access Journals (Sweden)

    Yuri V. Mann

    2016-12-01

    Full Text Available The ever-increasing international interest to Gogol explains the necessity of publishing a new edition of his works. The present Complete Collection of Gogol’s Works and Letters is an academic edition prepared and published by the A. M. Gorky Institute of World Literature of the Russian Academy of Sciences. It draws on rich experience of studying and publishing Gogol’s heritage in Russia but at the same time questions and underscores Gogol’s relevance for the modern reader and his place in the world culture of our time. It intends to fill in the gaps left by the previous scholarly tradition that failed to recognize some of Gogol’s texts as part of his heritage. Such are, for example, dedicatory descriptions in books and business notes. The present edition accounts not only for the completeness of texts but also for their place within the body of Gogol’s work, as part of his life-long creative process. By counterpoising different editions, it attempts to trace down the dynamics of Gogol’s creative thought while at the same time underscores the autonomy and relevance of each period in his career. For example, this collection publishes two different versions (editions of the same work: while the most recent version has become canonical at the expense of the preceding one, the latter still preserves its meaning and historical relevance. The present edition has the advantage over its predecessors since it has an actual, physical opportunity to erase the gaps, e.g. to publish the hitherto unpublished texts. However, the editors realize that new, hitherto unknown gaps may appear and the present edition will become, in its turn, outdated. At this point, there will be a necessity in the new edition.

  20. Repair deficient and hypersensitive diseases of man

    Energy Technology Data Exchange (ETDEWEB)

    Cleaver, J.E.; Bodell, W.J.; Park, S.D.

    1979-01-01

    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 an 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.

  1. Impact of Partial and complete rupture of anterior cruciate ligament on medial meniscus: A cadavaric study

    Directory of Open Access Journals (Sweden)

    Wei Jiang

    2012-01-01

    Conclusions: Similar to complete rupture, partial rupture of ACL can also trigger strain concentration on medial meniscus, especially posterior horn, which may be a more critical reason for meniscus injury associated with chronic ACL deficiency.

  2. Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.

    Science.gov (United States)

    Seymons, Katia; De Moor, Anja; De Raeve, Hendrik; Lambert, Julien

    2004-01-01

    The biotin-responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin-dependent carboxylases show diminished activity. This results in an accumulation of organic acids in the urine. The clinical picture involves the nervous system, skin, respiratory system, digestive system, and immune system. The disorder has a good prognosis if biotin therapy is introduced early. If not, it can result in irreversible damage to the central nervous system and early death from metabolic acidosis. We report a 4-year-old girl with unexplained seizures that did not respond well to anticonvulsants. The development of skin problems, which histologically could match the diagnosis of a nutritional dermatitis, together with the fact that the child was constantly eating without gaining weight, led us to the diagnosis of a metabolic disorder. The accumulation of organic acids in the urine suggested the possibility of a biotin deficiency. With biotin therapy the skin problems resolved completely. The seizures also diminished. This case shows that in young children with unexplained seizures that do not respond well to classic anticonvulsant therapy, the possibility of biotin deficiency should always be considered. This article also includes a thorough review of the skin manifestations and other problems caused by biotin deficiency.

  3. Vitamin D deficiency in Europe: pandemic?12

    Science.gov (United States)

    Dowling, Kirsten G; Škrabáková, Zuzana; Gonzalez-Gross, Marcela; Valtueña, Jara; De Henauw, Stefaan; Moreno, Luis; Damsgaard, Camilla T; Michaelsen, Kim F; Mølgaard, Christian; Jorde, Rolf; Grimnes, Guri; Moschonis, George; Mavrogianni, Christina; Manios, Yannis; Thamm, Michael; Mensink, Gert BM; Rabenberg, Martina; Busch, Markus A; Cox, Lorna; Meadows, Sarah; Goldberg, Gail; Prentice, Ann; Dekker, Jacqueline M; Nijpels, Giel; Pilz, Stefan; Swart, Karin M; van Schoor, Natasja M; Lips, Paul; Eiriksdottir, Gudny; Gudnason, Vilmundur; Cotch, Mary Frances; Koskinen, Seppo; Lamberg-Allardt, Christel; Durazo-Arvizu, Ramon A; Sempos, Christopher T; Kiely, Mairead

    2016-01-01

    Background: Vitamin D deficiency has been described as being pandemic, but serum 25-hydroxyvitamin D [25(OH)D] distribution data for the European Union are of very variable quality. The NIH-led international Vitamin D Standardization Program (VDSP) has developed protocols for standardizing existing 25(OH)D values from national health/nutrition surveys. Objective: This study applied VDSP protocols to serum 25(OH)D data from representative childhood/teenage and adult/older adult European populations, representing a sizable geographical footprint, to better quantify the prevalence of vitamin D deficiency in Europe. Design: The VDSP protocols were applied in 14 population studies [reanalysis of subsets of serum 25(OH)D in 11 studies and complete analysis of all samples from 3 studies that had not previously measured it] by using certified liquid chromatography–tandem mass spectrometry on biobanked 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 estimate, irrespective of age group, ethnic mix, and latitude of study populations, showed that 13.0% of the 55,844 European individuals had serum 25(OH)D concentrations <30 nmol/L on average in the year, with 17.7% and 8.3% in those sampled during the extended winter (October–March) and summer (April–November) periods, respectively. According to an alternate suggested definition of vitamin D deficiency (<50 nmol/L), the prevalence was 40.4%. Dark-skinned ethnic subgroups had much higher (3- to 71-fold) prevalence of serum 25(OH)D <30 nmol/L than did white populations. Conclusions: Vitamin D deficiency is evident throughout the European population at prevalence rates that are concerning and that require action from a public health perspective. What direction these

  4. Interactions between copper deficiency, selenium deficiency and adriamycin toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, J.; Tackett, R.; Johnson, M.A. (Univ. of Georgia, Athens (United States))

    1991-03-15

    The objective of this study was to test the hypothesis that there are interactions between copper (Cu) and selenium (Se) status, and adriamycin (ADR) toxicity. Male Sprague Dawley rats were fed Cu,Se adequate; Cu deficient, Se adequate ({minus}Cu); Cu adequate, Se deficient; or Cu,Se deficient diets for 38-41 days. ADR or saline (SAL) were administered weekly for the last 4 weeks of the study. Cu deficiency was confirmed by a 3-fold decrease in liver Cu,Zn-superoxide dismutase and liver Cu, and a 5-fold decrease in RBC Cu,Zn-SOD. Se deficiency was confirmed by a 10-fold decrease in liver glutathione peroxidase (GSH-Px). ADR, Cu deficiency and Se deficiency all caused EKG abnormalities. However, Cu and Se deficiencies did not enhance ADR's influence on EKGs. ADR increased lipid peroxidation in liver by 15% and in heart by 18% (NS). Cu deficiency decreased ADR-induced lipid peroxidation in heart tissue by 25%. ADR influenced Se status by significantly increasing heart GSH-Px, and Cu status by increasing liver Cu, plasma ceruloplasmin and liver Cu, Zn-SOD. These elevations in Cu,Zn-SOD and GSH-Px may be a consequence of the increased lipid peroxidation initiated by ADR. In {minus}Cu rats, ADR caused severe hemolytic anemia characterized by a 19% decrease in hematocrit and a 17-fold increase in splenic Fe. These data suggest that there are numerous interactions between ADR toxicity and Cu and Se status.

  5. Genetics Home Reference: dopamine transporter deficiency syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Dopamine transporter deficiency syndrome Dopamine transporter deficiency syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Dopamine transporter deficiency syndrome is a rare movement disorder. ...

  6. Genetics Home Reference: lactate dehydrogenase deficiency

    Science.gov (United States)

    ... this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with ... Resources Genetic Testing (2 links) Genetic Testing Registry: Glycogen storage disease XI Genetic Testing Registry: Lactate dehydrogenase B deficiency ...

  7. 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 ...

  8. Alpha-1-antitrypsin deficiency.

    Science.gov (United States)

    Bals, Robert

    2010-10-01

    Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes can result in liver disease. Exposure to smoke is the major risk factor for the development of lung disease characterised as early chronic obstructive lung disease (COPD). Diagnosis is based on the analysis of the AAT genotype and phenotype. The measurement of the AAT serum level is useful as screening test. Liver biopsy is not necessary to establish the diagnosis. Therapy for AAT-related liver disease is supportive, a specific therapy is not available. AATD is a rare condition (1:5000-10000) and, as a consequence, data and information on diagnosis and treatment are not easily accessible. This chapter provides a comprehensive overview on AATD, covering basic biology, diagnostic and therapeutic approaches. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. Iron deficiency - a global problem

    International Nuclear Information System (INIS)

    Ali, S.M.

    1993-01-01

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

  10. Pagophagia in iron deficiency anemia.

    Science.gov (United States)

    Uchida, Tatsumi; Kawati, Yasunori

    2014-04-01

    The relationship between pagophagia (ice pica) and iron deficiency anemia was studied. All 81 patients with iron deficiency anemia defined as hemoglobin Pagophagia was defined as compulsive and repeated ingestion of at least one tray of ice or ice eating which was relieved after iron administration. Pagophagia was present in 13 patients (16.0%). All patients who received oral iron were periodically assessed employing a questionnaire on pagophagia and laboratory data. Iron therapy can cure the pagophagia earlier than hemoglobin recovery and repair of tissue iron deficiency. Although the pathogenesis of pagophagia is unclear, a biochemical approach involving the central nervous system might elucidate the mechanism underlying these abnormal behaviors.

  11. Vitamin B12 Deficiency due to Chlorofluorocarbon: A Case Report

    Directory of Open Access Journals (Sweden)

    Hemlata Bhaskar

    2010-01-01

    Full Text Available Background. Vitamin B12 is vital for optimal functioning of various organ systems but more importantly the central nervous system and the hematological system. Deficiency of vitamin B12 clinically manifests as excessive daytime fatigue, memory difficulties, encephalopathy, myelopathy, peripheral neuropathy, and optic neuropathy. In occupational medicine, vitamin B12 deficiency has been reported with exposure to nitrous oxide in health care workers. However, not much is known about exposure to Freons in other industries and vitamin B12 deficiency. Aim. We are reporting a case of vitamin B12 deficiency in the setting of exposure to chlorofluorocarbon (CFC gases. Case Report. A 55-year-old male refrigerator mechanic experienced recurrent visual symptoms, which included diplopia and blurring. A complete workup was done and was significant of vitamin B12 deficiency. However, his B12 levels were refractory to supplementation. Appropriate precautions at workplace improved patient's symptoms and were associated with significant improvement in B12 levels. Conclusion. To the best of our knowledge, this is the first reported case of vitamin B12 deficiency (that remains refractory to supplementation in the setting of exposure to Freon gases.

  12. Cell Motility and Invasiveness of Neurofibromin-Deficient Neural Crest Cells and Malignant Triton Tumor Lines

    National Research Council Canada - National Science Library

    Vogel, Kristine S

    2005-01-01

    .... We have completed our analyses of NfI4- embryonic NOC invasiveness in vitro, and compared effects of neurofibromin deficiency in different embryonic mesenchymal cell populations derived from cranial and trunk regions...

  13. Iron deficiency among blood donors

    DEFF Research Database (Denmark)

    Rigas, A S; Pedersen, O B; Magnussen, K

    2017-01-01

    and menopausal status are the strongest predictors of iron deficiency. Only little information on the health effects of iron deficiency in blood donors exits. Possibly, after a standard full blood donation, a temporarily reduced physical performance for women is observed. However, iron deficiency among blood...... donors is not reflected in a reduced self-perceived mental and physical health. In general, the high proportion of iron-deficient donors can be alleviated either by extending the inter-donation intervals or by guided iron supplementation. The experience from Copenhagen, the Capital Region of Denmark......, is that routine ferritin measurements and iron supplementation are feasible and effective ways of reducing the proportion of donors with low haemoglobin levels....

  14. 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)

  15. Selective IgA Deficiency

    OpenAIRE

    Yel, Leman

    2010-01-01

    Introduction: Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency defined as decreased serum level of IgA in the presence of normal levels of other immunoglobulin isotypes. Most individuals with IgA deficiency are asymptomatic and identified coincidentally. However, some patients may present with recurrent infections of the respiratory and gastrointestinal tracts, allergic disorders, and autoimmune manifestations. IgA and Its Functions: Although IgA is the most abund...

  16. Iron deficiency and cognitive functions

    OpenAIRE

    Jáuregui-Lobera, Ignacio

    2014-01-01

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

  17. Adverse effects of parental zinc deficiency on metal homeostasis and embryonic development in a zebrafish model.

    Science.gov (United States)

    Beaver, Laura M; Nkrumah-Elie, Yasmeen M; Truong, Lisa; Barton, Carrie L; Knecht, Andrea L; Gonnerman, Greg D; Wong, Carmen P; Tanguay, Robert L; Ho, Emily

    2017-05-01

    The high prevalence of zinc deficiency is a global public health concern, and suboptimal maternal zinc consumption has been associated with adverse effects ranging from impaired glucose tolerance to low birthweights. The mechanisms that contribute to altered development and poor health in zinc deficient offspring are not completely understood. To address this gap, we utilized the Danio rerio model and investigated the impact of dietary zinc deficiency on adults and their developing progeny. Zinc deficient adult fish were significantly smaller in size, and had decreases in learning and fitness. We hypothesized that parental zinc deficiency would have an impact on their offspring's mineral homeostasis and embryonic development. Results from mineral analysis showed that parental zinc deficiency caused their progeny to be zinc deficient. Furthermore, parental dietary zinc deficiency had adverse consequences for their offspring including a significant increase in mortality and decreased physical activity. Zinc deficient embryos had altered expression of genes that regulate metal homeostasis including several zinc transporters (ZnT8, ZnT9) and the metal-regulatory transcription factor 1 (MTF-1). Zinc deficiency was also associated with decreased expression of genes related to diabetes and pancreatic development in the embryo (Insa, Pax4, Pdx1). Decreased expression of DNA methyltransferases (Dnmt4, Dnmt6) was also found in zinc deficient offspring, which suggests that zinc deficiency in parents may cause altered epigenetic profiles for their progeny. These data should inform future studies regarding zinc deficiency and pregnancy and suggest that supplementation of zinc deficient mothers prior to pregnancy may be beneficial. Published by Elsevier Inc.

  18. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Iron-Deficiency Anemia KidsHealth / For Parents / Iron-Deficiency Anemia ... anemia, a common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the ...

  19. p-topological Cauchy completions

    Directory of Open Access Journals (Sweden)

    J. Wig

    1999-01-01

    Full Text Available The duality between “regular” and “topological” as convergence space properties extends in a natural way to the more general properties “p-regular” and “p-topological.” Since earlier papers have investigated regular, p-regular, and topological Cauchy completions, we hereby initiate a study of p-topological Cauchy completions. A p-topological Cauchy space has a p-topological completion if and only if it is “cushioned,” meaning that each equivalence class of nonconvergent Cauchy filters contains a smallest filter. For a Cauchy space allowing a p-topological completion, it is shown that a certain class of Reed completions preserve the p-topological property, including the Wyler and Kowalsky completions, which are, respectively, the finest and the coarsest p-topological completions. However, not all p-topological completions are Reed completions. Several extension theorems for p-topological completions are obtained. The most interesting of these states that any Cauchy-continuous map between Cauchy spaces allowing p-topological and p′-topological completions, respectively, can always be extended to a θ-continuous map between any p-topological completion of the first space and any p′-topological completion of the second.

  20. Iron deficiency and bariatric surgery.

    Science.gov (United States)

    Jáuregui-Lobera, Ignacio

    2013-05-15

    It is estimated that the prevalence of anaemia in patients scheduled for bariatric surgery is higher than in the general population and the prevalence of iron deficiencies (with or without anaemia) may be higher as well. After surgery, iron deficiencies and anaemia may occur in a higher percentage of patients, mainly as a consequence of nutrient deficiencies. In addition, perioperative anaemia has been related with increased postoperative morbidity and mortality and poorer quality of life after bariatric surgery. The treatment of perioperative anaemia and nutrient deficiencies has been shown to improve patients' outcomes and quality of life. All patients should undergo an appropriate nutritional evaluation, including selective micronutrient measurements (e.g., iron), before any bariatric surgical procedure. In comparison with purely restrictive procedures, more extensive perioperative nutritional evaluations are required for malabsorptive procedures due to their nutritional consequences. The aim of this study was to review the current knowledge of nutritional deficits in obese patients and those that commonly appear after bariatric surgery, specifically iron deficiencies and their consequences. As a result, some recommendations for screening and supplementation are presented.

  1. Iron Deficiency and Bariatric Surgery

    Directory of Open Access Journals (Sweden)

    Ignacio Jáuregui-Lobera

    2013-05-01

    Full Text Available It is estimated that the prevalence of anaemia in patients scheduled for bariatric surgery is higher than in the general population and the prevalence of iron deficiencies (with or without anaemia may be higher as well. After surgery, iron deficiencies and anaemia may occur in a higher percentage of patients, mainly as a consequence of nutrient deficiencies. In addition, perioperative anaemia has been related with increased postoperative morbidity and mortality and poorer quality of life after bariatric surgery. The treatment of perioperative anaemia and nutrient deficiencies has been shown to improve patients’ outcomes and quality of life. All patients should undergo an appropriate nutritional evaluation, including selective micronutrient measurements (e.g., iron, before any bariatric surgical procedure. In comparison with purely restrictive procedures, more extensive perioperative nutritional evaluations are required for malabsorptive procedures due to their nutritional consequences. The aim of this study was to review the current knowledge of nutritional deficits in obese patients and those that commonly appear after bariatric surgery, specifically iron deficiencies and their consequences. As a result, some recommendations for screening and supplementation are presented.

  2. Leaf Senescence by Magnesium Deficiency

    Directory of Open Access Journals (Sweden)

    Keitaro Tanoi

    2015-12-01

    Full Text Available Magnesium ions (Mg2+ are the second most abundant cations in living plant cells, and they are involved in various functions, including photosynthesis, enzyme catalysis, and nucleic acid synthesis. Low availability of Mg2+ in an agricultural field leads to a decrease in yield, which follows the appearance of Mg-deficient symptoms such as chlorosis, necrotic spots on the leaves, and droop. During the last decade, a variety of physiological and molecular responses to Mg2+ deficiency that potentially link to leaf senescence have been recognized, allowing us to reconsider the mechanisms of Mg2+ deficiency. This review focuses on the current knowledge about the physiological responses to Mg2+ deficiency including a decline in transpiration, accumulation of sugars and starch in source leaves, change in redox states, increased oxidative stress, metabolite alterations, and a decline in photosynthetic activity. In addition, we refer to the molecular responses that are thought to be related to leaf senescence. With these current data, we give an overview of leaf senescence induced by Mg deficiency.

  3. Iodine deficiency among goiter patients in rural South Sudan.

    Science.gov (United States)

    Chuot, Chep C; Galukande, Moses; Ibingira, Charles; Kisa, Nicholas; Fualal, Jane Odubu

    2014-10-23

    It is estimated that 2.2 billion or approximately 30% of the world's population live in iodine-deficient areas. In a 2005 study households consuming iodized salt in South Sudan increased from 40% to 73%. Despite this achievement, there are still many goiter cases in rural South Sudan and iodine deficiency remains as a major public health problem in this part of sub Saharan Africa.The purpose of this study therefore was to determine the prevalence of iodine deficiency among rural Southern Sudan goiter patients. A cross-sectional study was carried out in three South Sudan counties, adults with goiter were from three centers following a mobilization campaign that lasted 4 weeks for free medical care. They were clinically evaluated and completed interviewer administered questionnaires to determine their age, gender, diet, family history, drug history, and medical history. Urine samples were then taken for urinary iodine levels. The outcome was iodine deficiency measured as urinary iodine less than 100 μg per/ L. Multiple logistic regression was used to establish the factors associated with iodine deficiency in South Sudan. Ethical approval was obtained. A total of 286 goitre patients were recruited. The mean age was 38 years (SD 9), 262(92%) were females (F: M ratio 11:1), and 257(90%) were rural- peasants, 25% (20/286) had moderate to severe iodine deficiency. 174(62%) consumed non-iodized salts. Iodine deficiency is highly prevalent among rural South Sudan communities and a likely cause for goiters. Rural poor women are highly vulnerable.

  4. [Iron deficiency towards the year 2000].

    Science.gov (United States)

    Layrisse, M

    1999-09-01

    This is a non-comprehensive overview of the latest 50 years about the evolution of iron metabolism and the methodology we currently have for the diagnosis of iron deficiency and its effects on human health. In the 40's iron absorption was determined by chemistry. The amount of iron absorbed was calculated as the difference between dietary iron and excreted iron. The other methods used to measure dietary iron was hemoglobin repletion. In the 70's the measurement of plasmatic ferritin was an important contribution to iron metabolism to assess iron deficiency and iron overload. In the same decade the extrinsic and intrinsic labelled methodology was an important advancement. The 70's and 80's were years where scientists aimed at finding iron absorption inhibitors, namely coffee, calcium, tea, zinc and fiber. The 80's and 90's were characterized for the emerging knowledge an iron absorption from a food, a meal and a complete diet and for the favorable effect of food iron fortification in developing countries. Also for the effect of iron excess in overall health and myocardial infarction in developed countries were studied.

  5. IgA deficiency in wolves.

    Science.gov (United States)

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

    2013-06-01

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

  6. The responsibility of the contractor for project deficiencies

    Directory of Open Access Journals (Sweden)

    Pušac Jovana

    2011-01-01

    Full Text Available In this paper the author analyzes a civil law responsibility of the Contractor for project deficiencies resulting in reduced quality of the construction, i.e. not affecting its solidity. Primary obligation of the Contractor is to perform works in compliance with professional standards, the contract and the approved project. The Contractor cannot change the approved project at will, even when he has designed it. Hence, the question must be raised of the obligation of the Contractor to strictly abide by the project, assigned to him by the Authority, regardless of evident deficiencies of the Project and of his responsibility for performing works in compliance with the said project resulting in deficiencies in the construction, that is construction works. If the latter hypothesis is correct, then it must be established what deficiencies in the project fall under the responsibility of the Contractor (visible or hidden, i.e. the issue of dividing responsibility between the Project Designer and the Contractor in terms of the project deficiencies must be set up and solved. Finally, it is also important to define the realization of rights and duties of the Contractor in case the Contractor has to recede from the Project. In this paper the author tries to offer detail and complete answers to raised questions.

  7. West syndrome due to vitamin B12 deficiency.

    Science.gov (United States)

    Serin, Hepsen Mine; Kara, Aslıhan Oruçoğlu; Oğuz, Baran

    2015-12-01

    Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.

  8. 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

  9. Serum transferrin receptors in detection of iron deficiency in pregnancy.

    Science.gov (United States)

    Rusia, U; Flowers, C; Madan, N; Agarwal, N; Sood, S K; Sikka, M

    1999-08-01

    A prospective hospital-based study was conducted to evaluate the efficacy of serum transferrin receptors in the detection of iron deficiency in pregnant women. The iron status of 100 pregnant women with single uncomplicated term pregnancies in the first stage of labor was established using standard laboratory measures. These included complete hemogram, red cell indices, serum iron, percent transferrin saturation, and serum ferritin. In addition, serum transferrin receptor (STFR) was estimated. The results of 81 women with complete laboratory profiles were analyzed. Thirty-five (43.2%) women were anemic (hemoglobin <11 g/dl). Hemoglobin (Hb) showed a significant correlation with MCH, MCHC, serum iron, and percent transferrin saturation, suggesting that the anemia was likely to be due to iron deficiency. The mean STFR level was 18.05+/-9.9 mg/l in the anemic women and was significantly raised (p<0.001) compared with that of the nonanemic women. STFR correlated significantly with Hb (p<0.001), MCH (p<0.05), MCHC (p<0.01), serum iron (p<0.01), and percent transferrin saturation (p<0.01) and also showed a highly significant correlation with the degree of anemia. Serum ferritin in these women did not correlate with Hb, and only 54.4% of the women had levels <12 ng/ml, which does not reflect the true prevalence of iron deficiency. Serum transferrin receptor estimation is thus a useful measure for detecting iron deficiency in pregnancy.

  10. [Nutritional deficiencies associated with bariatric surgery].

    Science.gov (United States)

    Folope, Vanessa; Coëffier, Moïse; Déchelotte, Pierre

    2007-04-01

    Morbidly obese patients often have nutritional deficiencies, particularly in fat-soluble vitamins, folic acid and zinc. After bariatric surgery, these deficiencies may increase and others can appear, especially because of the limitation of food intake in gastric reduction surgery and of malabsorption in by-pass procedures. The latter result in more important weight loss but also increase the risk of more severe deficiencies. The protein deficiency associated with a decrease in the fat-free mass has been described in both procedures. It can sometimes require an enteral or parenteral support. Anemia can be secondary to iron deficiency, folic acid deficiency and even to vitamin B12 deficiency. Neurological disorders such as Gayet-Wernicke encephalopathy due to thiamine deficiency, or peripheral neuropathies may also be observed. Malabsorption of fat-soluble vitamins and other nutrients, especially if diagnosed after by-pass surgery, rarely cause clinical symptoms. However, some complications have been reported such as bone demineralization due to vitamin D deficiency, hair loss secondary to zinc deficiency or hemeralopia from vitamin A deficiency. A careful nutritional follow-up should be performed during pregnancy after obesity surgery, because possible deficiencies can affect the health of both the mother and child. In conclusion, increased awareness of the risk of deficiency and the systematic dosage of micronutrients are needed in the pre- and postoperative period in obese patients undergoing bariatric surgery. The case by case correction of these deficiencies is mandatory, and their systematic prevention should be evaluated.

  11. Serum transferrin receptor levels in the evaluation of iron deficiency in the neonate.

    Science.gov (United States)

    Rusia, U; Flowers, C; Madan, N; Agarwal, N; Sood, S K; Sikka, M

    1996-10-01

    Iron deficiency anemia (IDA) is a major global problem. Early onset of iron deficiency in developing countries makes it imperative to identify iron deficiency in neonates. Most conventional laboratory parameters of iron status fail to distinguish neonates with iron deficient erythropoiesis. Serum transferrin receptor (STFR) levels are a recent sensitive measure of iron deficiency and the present study was carried out to evaluate the usefulness of cord serum transferrin receptors in identifying iron deficient erythropoiesis in neonates. A complete hemogram, red cell indices, iron profile: serum iron (SI), percent transferrin saturation (TS%) and serum ferritin (SF) was carried out in 100 full-term neonates and their mothers at parturition. Cord and maternal STFR levels were estimated using a sensitive enzyme-linked immunosorbent assay (ELISA) technique. Anemic women had a significantly lower SI, their TS% and high STFR levels suggesting that iron deficiency was responsible for the anemia. In the neonates of iron deficient mothers, cord SI, TS% and cord ferritin were not significantly different from those of neonates born to non-anemic mothers. Cord STFR level correlated well with hemoglobin (Hb) and laboratory parameters of iron status, and its level was significantly higher in neonates born to anemic mothers than in those born to non-anemic mothers. It was the only laboratory parameter to differentiate between neonates born to anemic and non-anemic mothers. Therefore, STFR is a sensitive index of iron status in neonates and identifies neonates with iron deficient erythropoiesis.

  12. Two infants with infantile spasms associated with vitamin B12 deficiency.

    Science.gov (United States)

    Malbora, Baris; Yuksel, Deniz; Aksoy, Ayse; Ozkan, Mehpare

    2014-07-01

    In developing countries, nutritional vitamin B12 deficiency in infants because of maternal deficiency often causes hematological and neurological disorders. However, epilepsy is a rare manifestation of vitamin B12 deficiency. The biological basis for the observed neurological symptoms of infantile vitamin B12 deficiency remains uncertain. There are only a few reports in the English literature regarding the relationship between infantile spasms and vitamin B12 deficiency. We report two unrelated infants having infantile spasms associated with vitamin B12 deficiency related to maternal nutritional deficiency. During the first month of adrenocorticotropic hormone (ACTH), phenobarbital, and vitamin B12 treatments, both infants' abnormalities resolved. After 3 months, electroencephaography was completely normal. ACTH and phenobarbital treatments were ended. The children are disease-free 9 months after the treatment. We suggest that vitamin B12 deficiency should be considered in the differential diagnosis of infantile spasms as a treatable cause, especially with a history of maternal nutritional deficiency. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Preventing Iron Deficiency and Anaemia

    African Journals Online (AJOL)

    Siegal_D

    Anaemia, often due to iron deficiency, is one of the most widespread causes of mortality and morbidity in ... Pregnant women must make many new red blood cells, provide iron for the foetus and may lose much blood during .... Do not give tea and coffee to children. • Eat fermented porridges and germinate/malt cereals and ...

  14. 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 existi...

  15. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes . Low levels of ACTH ... to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency POMC deficiency is a rare ...

  16. Iron deficiency anemia in children

    Directory of Open Access Journals (Sweden)

    Pochinok T.V.

    2016-05-01

    Full Text Available In the article the role of iron in the human body is highlighted. The mechanism of development of iron deficiency states, their consequences and the basic principles of diagnosis and correction of children of different ages are shown.

  17. Educational paper: Primary antibody deficiencies

    NARCIS (Netherlands)

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

    2011-01-01

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

  18. Iron deficiency in cancer patients

    Directory of Open Access Journals (Sweden)

    Flávio Augusto Naoum

    Full Text Available ABSTRACT Anemia is a frequent complication in cancer patients, both at diagnosis and during treatment, with a multifactorial etiology in most cases. Iron deficiency is among the most common causes of anemia in this setting and can develop in nearly half of patients with solid tumors and hematologic malignancies. Surprisingly, this fact is usually neglected by the attending physician in a way that proper and prompt investigation of the iron status is either not performed or postponed. In cancer patients, functional iron deficiency is the predominant mechanism, in which iron availability is reduced due to disease or the therapy-related inflammatory process. Hence, serum ferritin is not reliable in detecting iron deficiency in this setting, whereas transferrin saturation seems more appropriate for this purpose. Besides, lack of bioavailable iron can be further worsened by the use of erythropoiesis stimulating agents that increase iron utilization in the bone marrow. Iron deficiency can cause anemia or worsen pre-existing anemia, leading to a decline in performance status and adherence to treatment, with possible implications in clinical outcome. Due to its frequency and importance, treatment of this condition is already recommended in many specialty guidelines and should be performed preferably with intravenous iron. The evidences regarding the efficacy of this treatment are solid, with response gain when combined with erythropoiesis stimulating agents and significant increments in hemoglobin as monotherapy. Among intravenous iron formulations, slow release preparations present more favorable pharmacological characteristics and efficacy in cancer patients.

  19. Management of Iron Deficiency Anemia

    Science.gov (United States)

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie

    2015-01-01

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

  20. 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...

  1. N-matrix completion problem

    OpenAIRE

    Araújo, C. Mendes; Torregrosa, Juan R.; Urbano, Ana M.

    2003-01-01

    An n x n matrix is called an N-matrix if all principal minors are negative. In this paper, we are interested in N-matrix completion problems, that is, when a partial N-matrix hás an N-matrix completion. In general, a combinatorially or non-combinatorially symmetric partial N-matrix does not have an N-matrix completion. Here we prove that a combinatorially symmetric partial N-matrix has an N-matrix completion if the graph of its specified entries is a 1-chordal graph. We also prove that there ...

  2. Completeness theorems in transport theory

    International Nuclear Information System (INIS)

    Zweifel, P.F.

    1984-01-01

    Ever since K. M.; Case's famous 1960 paper, transport theorists have been studying the questions of full- and half-range completeness for various transport type equations. The purpose of this note is to try to define exactly what is meant by completeness as it is needed, and used, in solving transport equations and to discuss some of the various techniques which have been, or might be, used to verify completeness. Attention is restricted to the question of full-range completeness. As a paradigm the generalized form of the transport equation first introduced by Beals is adopted

  3. Biosynthesis of amidated joining peptide from pro-adrenocorticotropin-endorphin

    Energy Technology Data Exchange (ETDEWEB)

    Cullen, E.I.; Mains, R.E. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (USA))

    1987-09-01

    Joining peptide is the major alpha-amidated product of pro-ACTH/endorphin (PAE) in AtT-20 corticotropic tumor cells. To study intracellular joining peptide synthesis, affinity purified antibodies directed against gamma-MSH, joining peptide, and ACTH were used to immunoprecipitate extracts from biosynthetically labeled AtT-20 cells. Immunoprecipitates were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and by tryptic peptide mapping on HPLC. In steady labeling experiments, radioactivity in amidated joining peptide (JP) increased roughly linearly with time, in the manner of a final product, whereas radioactivity associated with PAE (1-94)NH2 reached a constant value after 2-4 h, indicating that PAE(1-94)NH2 is an intermediate in the biosynthesis of JP. Radioactivity appeared in ACTH(1-39) well before JP, consistent with a cleavage order in which ACTH is cleaved from PAE(1-95) before JP sequences are cleaved from PAE(1-74). This conclusion was supported by tryptic peptide analyses of immunoprecipitates, which indicated that less than 5% of JP-related material is cleaved from PAE(1-74) before being cleaved from ACTH-related sequences. After a pulse label, radioactivity in PAE(1-94)NH2 reached a peak value after 1 h of chase and declined with a half-life of less than 1 h. Amidated JP increased to a constant level after 2 h of chase. Enough radiolabeled PAE(1-94)NH2 was detected to account for about half of the radioactivity found in amidated JP, indicating that about half of JP-related material is first cleaved from PAE(1-95) before being amidated. This result was corroborated using HPLC purification to determine both amidated and glycine-extended forms of JP.

  4. Treatment of adrenocorticotropin-dependent cushing's syndrome: A consensus statement

    NARCIS (Netherlands)

    B.M.K. Biller; A. Grossman (Ashley Barry); P.M. Stewart; S. Melmed (Shlomo); X. Bertagna; J. Bertherat (Jerome); M. Buchfelder; A. Colao (Annamaria); A.R.M.M. Hermus (Ad); L.J. Hofland (Leo); A. Klibanski; A. Lacroix; J.R. Lindsay; J. Newell-Price; L.K. Nieman; S. Petersenn; N. Sonino; G.K. Stalla (Günter); B. Swearingen; M.L. Vance; J.A.H. Wass (John); M. Boscaro

    2008-01-01

    textabstractObjective: Our objective was to evaluate the published literature and reach a consensus on the treatment of patients with ACTH-dependent Cushing's syndrome, because there is no recent consensus on the management of this rare disorder. Participants: Thirty-two leading endocrinologists,

  5. Treatment of adrenocorticotropin-dependent Cushing's syndrome: a consensus statement.

    NARCIS (Netherlands)

    Biller, B.M.; Grossman, A.B.; Stewart, P.M.; Melmed, S.; Bertagna, X.; Bertherat, J.; Buchfelder, M.; Colao, A.; Hermus, A.R.M.M.; Hofland, L.J.; Klibanski, A.; Lacroix, A.; Lindsay, J.R.; Newell-Price, J.; Nieman, L.K.; Petersenn, S.; Sonino, N.; Stalla, G.K.; Swearingen, B.; Vance, M.L.; Wass, J.A.; Boscaro, M.

    2008-01-01

    OBJECTIVE: Our objective was to evaluate the published literature and reach a consensus on the treatment of patients with ACTH-dependent Cushing's syndrome, because there is no recent consensus on the management of this rare disorder. PARTICIPANTS: Thirty-two leading endocrinologists, clinicians,

  6. Chronic ethanol consumption decreases adrenal responsiveness to adrenocorticotropin (ACTH) stimulation

    International Nuclear Information System (INIS)

    Nolan, C.J.; Bestervelt, L.L.; Cai, Y.; Maimansomsuk, P.; Coleman, L.; Piper, W.N.

    1991-01-01

    Increased alcohol consumption by adolescents and teenagers has heightened awareness of potential endocrine and developmental alterations. The current study was designed to determine whether chronic ethanol intake alters pituitary and adrenal function in the developing rat. One month old male Sprague Dawley rats were administered 6% ethanol in drinking water. After one month of treatment animals were sacrificed and blood, pituitary and adrenal glands collected. Plasma was assayed for ACTH and corticosterone (CS) by radioimmunossay (RIA). Five anterior pituitary glands per group were challenged with 100 μM corticotropin releasing factor (CRF) for 90 min at 37C under 95% air / 5% CO 2 . Media were analyzed for either ACTH (pituitary) or CS (adrenal) by RIA. Plasma ACTH and CS were unaffected by ethanol consumption. Pituitary response to CRF was not altered by ethanol. The lack of difference in ACTH release was not due to differences in pituitary content of ACTH. However, chronic ethanol consumption did decrease adrenal responsiveness to ACTH stimulation. In vitro corticosterone production was 1.21 ± 0.14 μg/adrenal in controls and 0.70 ± 0.06 μg/adrenal in ethanol consuming rats

  7. Iron refractory iron deficiency anemia

    Science.gov (United States)

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

    2013-01-01

    Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. To date, 40 different Matriptase-2 mutations have been reported, affecting all the functional domains of the large ectodomain of the protein. In vitro experiments on transfected cells suggest that Matriptase-2 cleaves Hemojuvelin, a major regulator of hepcidin expression and that this function is altered in this genetic form of anemia. In contrast to the low/undetectable hepcidin levels observed in acquired iron deficiency, in patients with Matriptase-2 deficiency, serum hepcidin is inappropriately high for the low iron status and accounts for the absent/delayed response to oral iron treatment. A challenge for the clinicians and pediatricians is the recognition of the disorder among iron deficiency and other microcytic anemias commonly found in pediatric patients. The current treatment of iron refractory iron deficiency anemia is based on parenteral iron administration; in the future, manipulation of the hepcidin pathway with the aim of suppressing it might become an alternative therapeutic approach. PMID:23729726

  8. Latino College Completion: New Mexico

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  9. Latino College Completion: West Virginia

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  10. Latino College Completion: United States

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  11. Latino College Completion: South Dakota

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  12. Latino College Completion: North Dakota

    Science.gov (United States)

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  13. Structure completion for facade layouts

    KAUST Repository

    Fan, Lubin

    2014-11-18

    (Figure Presented) We present a method to complete missing structures in facade layouts. Starting from an abstraction of the partially observed layout as a set of shapes, we can propose one or multiple possible completed layouts. Structure completion with large missing parts is an ill-posed problem. Therefore, we combine two sources of information to derive our solution: the observed shapes and a database of complete layouts. The problem is also very difficult, because shape positions and attributes have to be estimated jointly. Our proposed solution is to break the problem into two components: a statistical model to evaluate layouts and a planning algorithm to generate candidate layouts. This ensures that the completed result is consistent with the observation and the layouts in the database.

  14. Genetics Home Reference: factor VII deficiency

    Science.gov (United States)

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

  15. Genetics Home Reference: leptin receptor deficiency

    Science.gov (United States)

    ... People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production ... weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency , researchers suggest that ...

  16. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... cells that help protect the body against infection (agammaglobulinemia). Related Information What does it mean if a ... deficiency type 1B Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency Other Diagnosis and Management ...

  17. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

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

  18. Genetics Home Reference: IRAK-4 deficiency

    Science.gov (United States)

    ... Encyclopedia: Septicemia Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) IRAK-4 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (2 ...

  19. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Description Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. ... are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more ...

  20. Genetics Home Reference: pyruvate carboxylase deficiency

    Science.gov (United States)

    ... condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup ... Pyruvate carboxylase deficiency MalaCards: pyruvate carboxylase deficiency Merck Manual Consumer Version: Overview of Hereditary Metabolic Disorders Orphanet: ...

  1. Genetics Home Reference: dihydropyrimidine dehydrogenase deficiency

    Science.gov (United States)

    ... 5-fluorouracil and capecitabine. These drugs are not broken down efficiently by people with dihydropyrimidine dehydrogenase deficiency ... of this enzyme. Because fluoropyrimidine drugs are also broken down by the dihydropyrimidine dehydrogenase enzyme, deficiency of ...

  2. 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

  3. Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency

    DEFF Research Database (Denmark)

    Bay, Jakob Thaning; Katzenstein, Terese Lea; Kofoed, Kristian

    2015-01-01

    presentation of Factor I deficiency varies and includes severe recurrent bacterial infections, glomerulonephritis and autoimmune diseases. The patient, a 28-years old woman with consanguineous parents, presented with recurrent leukocytoclastic vasculitis in the lower extremities with no associated systemic...... mutations vary among patients sole association with leukocytoclastic vasculitis redefines the clinical spectrum of complete Factor I deficiency....

  4. Complexity of Products of Some Complete and Complete Bipartite Graphs

    Directory of Open Access Journals (Sweden)

    S. N. Daoud

    2013-01-01

    Full Text Available The number of spanning trees in graphs (networks is an important invariant; it is also an important measure of reliability of a network. In this paper, we derive simple formulas of the complexity, number of spanning trees, of products of some complete and complete bipartite graphs such as cartesian product, normal product, composition product, tensor product, and symmetric product, using linear algebra and matrix analysis techniques.

  5. G6PD Deficiency in Turkish Cypriots

    OpenAIRE

    SÖZÜÖZ, Ayşe

    2014-01-01

    1108 Turkish Cypriot men and 318 male labourers from mainland Turkey were screened for G6PD deficiency and haemoglobinopathy traits. The results revealed a 6.7% G6PD deficiency rate in the Turkish Cypriot men and a 1.6% prevalance rate in the Turkish men. The mean haemoglobin level of the G6PD deficient males was approximately 1g/dl lower than that of the non-deficient males.

  6. Trend of Complete Hydatidiform Mole

    Directory of Open Access Journals (Sweden)

    K Thapa

    2010-03-01

    Full Text Available INTRODUCTION: Complete Hydatidiform mole is one of the most frequent abnormal pregnancies. This review studies the trend of complete mole in Paropakar Maternity and Women's hospital and clinical ability to detect it. METHODS: This is a retrospective study of 504 cases of complete hydatidiform mole recorded at Paropakar maternity and women's hospital, Kathmandu, during 2058-2065 B.S. Medical records were reviewed and incidence, clinical presentation and method of diagnosis were studied. RESULTS: During the study period, there were 13,9117 births and 504 complete moles, 12 partial moles, 48 persistent gestational tumours, six choriocarcinoma and four invasive moles recorded in the hospital. The incidence of complete mole was one per 276 births. It was prevalent among women younger than 29 years (80% and among the primigravidae (36.7%. More than 90% women presented in the first half of their pregnancy and vaginal bleeding was the main complaint (68.3%. Suction evacuation, dilation and evacuation followed by sharp curettage and abdominal hysterectomy were performed in 80.6%, 17.6% and 1.2% of the women respectively. Persistent mole and choriocarcinoma developed in 9.5% and 0.4% respectively. CONCLUSIONS: Complete mole has the highest incidence. It affects mostly younger women and presents with vaginal bleeding most of the time, usually in the first half of their pregnancy. Keywords: complete hydatidiform mole, gestational trophoblastic disease, persistent gestational tumours.

  7. Common micronutrient deficiencies among food aid beneficiaries ...

    African Journals Online (AJOL)

    Results: Vitamin A and iron deficiencies were the most prevalent micronutrient deficiencies among food aid beneficiaries. Other probable deficiencies prevailing were zinc, vitamins thiamine, riboflavin, niacin folate, cyano-cobalamine, ascorbic acid vitamin D and calcium because of the low intake of dairy products and meat.

  8. Galactose Epimerase Deficiency: Expanding the Phenotype

    NARCIS (Netherlands)

    Dias Costa, Filipa; Ferdinandusse, Sacha; Pinto, Carla; Dias, Andrea; Keldermans, Liesbeth; Quelhas, Dulce; Matthijs, Gert; Mooijer, Petra A.; Diogo, Luísa; Jaeken, Jaak; Garcia, Paula

    2017-01-01

    Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a

  9. Isolated complete corpus callosal agenesis

    Directory of Open Access Journals (Sweden)

    Jaiganesh S, Venkateshwaran A, Naresh Kumar C, Rajasekhar KV

    2014-11-01

    Full Text Available Isolated complete corpus callosal agenesis is a rare entity. Usually this condition will be an associated finding in other syndromes. 3 month old male child came with complaints of deformed foot on both sides, not having a social smile and neck holding. Patient referred to the Radiology department for MRI brain which showed complete absence of corpus callosum, widely separated and parallely placed lateral ventricles, colpocephaly, high riding of 3rd ventricle and absence of cingulate gyrus and radial arrangement of gyri along the interhemispheric fissure. Hence it was reported as isolated complete corpus callosal agenesis and this article describes the Embryogenesis, anatomy, developmental anomalies and its clinical manifestations & prognosis.

  10. Complete denture analyzed by optical coherence tomography

    Science.gov (United States)

    Negrutiu, Meda L.; Sinescu, Cosmin; Todea, Carmen; Podoleanu, Adrian G.

    2008-02-01

    The complete dentures are currently made using different technologies. In order to avoid deficiencies of the prostheses made using the classical technique, several alternative systems and procedures were imagined, directly related to the material used and also to the manufacturing technology. Thus, at the present time, there are several injecting systems and technologies on the market, that use chemoplastic materials, which are heat cured (90-100°C), in dry or wet environment, or cold cured (below 60°C). There are also technologies that plasticize a hard cured material by thermoplastic processing (without any chemical changes) and then inject it into a mold. The purpose of this study was to analyze the existence of possible defects in several dental prostheses using a non invasive method, before their insertion in the mouth. Different dental prostheses, fabricated from various materials were investigated using en-face optical coherence tomography. In order to discover the defects, the scanning was made in three planes, obtaining images at different depths, from 0,01 μm to 2 mm. In several of the investigated prostheses we found defects which may cause their fracture. These defects are totally included in the prostheses material and can not be vizualised with other imagistic methods. In conclusion, en-face OCT is an important investigative tool for the dental practice.

  11. 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...

  12. Large Hadron Collider nears completion

    CERN Multimedia

    2008-01-01

    Installation of the final component of the Large Hadron Collider particle accelerator is under way along the Franco-Swiss border near Geneva, Switzerland. When completed this summer, the LHC will be the world's largest and most complex scientific instrument.

  13. Congenital deficiency of factor VII.

    Science.gov (United States)

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

    1996-01-01

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

  14. Vitamin D deficiency in Fibromyalgia

    International Nuclear Information System (INIS)

    Bhatty, S.A.; Shaikh, N.A.; Irfan, M.; Kashif, S.M.; Vaswani, A.S.; Sumbhai, A.; Gunpat

    2010-01-01

    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)

  15. Panorama completion for street views

    OpenAIRE

    Zhu, Zhe; Martin, Ralph Robert; Hu, Shi-Min

    2015-01-01

    This paper considers panorama images used for street views. Their viewing angle of 360° causes pixels at the top and bottom to appear stretched and warped. Although current image completion algorithms work well, they cannot be directly used in the presence of such distortions found in panoramas of street views. We thus propose a novel approach to complete such 360° panoramas using optimization-based projection to deal with distortions. Experimental results show that our approach is efficient ...

  16. DOD Financial Management: Significant Efforts Still Needed for Remediating Audit Readiness Deficiencies

    Science.gov (United States)

    2017-02-01

    such as DOD OIG and GAO and from the Naval Audit Service does not include specific details and procedures for reasonably assuring the (1...of over 700 findings and recommendations. These weaknesses included, among other things, the military services ’ inability to reasonably assure that...tracking the complete universe of unresolved deficiencies, the military services cannot provide reasonable assurance that the deficiencies will be

  17. Metabolic surgery and nutritional deficiencies.

    Science.gov (United States)

    Stroh, Christine; Manger, Thomas; Benedix, Frank

    2017-10-01

    The increasing prevalence of morbid obesity in Germany is associated with an increasing number of metabolic surgical interventions. Short-term surgical and long-term metabolic complications such as nutrient deficiencies can be considered as the main risks of metabolic surgery with its malabsorptive but also restrictive procedures. The aim of this review was to characterize the most relevant metabolic complications specific for the various bariatric procedures, which, subsequently, require a permanent surveillance and supplementation, respectively. Furthermore, we aimed to identify if there are diagnostic and therapeutic measures that can prevent those complications. Restrictive bariatric surgery such as "gastric banding" and "sleeve gastrectomy" can be associated with deficiencies related to B-vitamins whereas iron, folate, vitamin B1, B12 and D deficiencies are associated with the malabsorptive procedure such as "biliopancreatic diversion," "duodenal switch" and "Roux-en-Y gastric bypass". Due to possible metabolic and surgical complications after bariatric surgery, patients need to undergo life-long medical and dietetic surveillance. The recently published guidelines of the "American Association of Bariatric and Metabolic Surgery" are the basis for recommendations on supplementation and treatment following weight loss surgery.

  18. Nutritional Deficiencies and Phospholipid Metabolism

    Directory of Open Access Journals (Sweden)

    Nidia N. Gomez

    2011-04-01

    Full Text Available Phospholipids are important components of the cell membranes of all living species. They contribute to the physicochemical properties of the membrane and thus influence the conformation and function of membrane-bound proteins, such as receptors, ion channels, and transporters and also influence cell function by serving as precursors for prostaglandins and other signaling molecules and modulating gene expression through the transcription activation. The components of the diet are determinant for cell functionality. In this review, the effects of macro and micronutrients deficiency on the quality, quantity and metabolism of different phospholipids and their distribution in cells of different organs is presented. Alterations in the amount of both saturated and polyunsaturated fatty acids, vitamins A, E and folate, and other micronutrients, such as zinc and magnesium, are discussed. In all cases we observe alterations in the pattern of phospholipids, the more affected ones being phosphatidylcholine, phosphatidylethanolamine and sphingomyelin. The deficiency of certain nutrients, such as essential fatty acids, fat-soluble vitamins and some metals may contribute to a variety of diseases that can be irreversible even after replacement with normal amount of the nutrients. Usually, the sequelae are more important when the deficiency is present at an early age.

  19. Nuclear security. Improving correction of security deficiencies at DOE's weapons facilities

    International Nuclear Information System (INIS)

    Wells, James E.; Cannon, Doris E.; Fenzel, William F.; Lightner, Kenneth E. Jr.; Curtis, Lois J.; DuBois, Julia A.; Brown, Gail W.; Trujillo, Charles S.; Tumler, Pamela K.

    1992-11-01

    The US nuclear weapons research, development, and production are conducted at 10 DOE nuclear weapons facilities by contractors under the guidance and oversight of 9 DOE field offices. Because these facilities house special nuclear materials used in making nuclear weapons and nuclear weapons components, DOE administers a security program to protect (1) against theft, sabotage, espionage, terrorism, or other risks to national security and (2) the safety and health of DOE employees and the public. DOE spends almost $1 billion a year on this security program. DOE administers the security program through periodic inspections that evaluate and monitor the effectiveness of facilities' safeguards and security. Security inspections identify deficiencies, instances of noncompliance with safeguards and security requirements or poor performance of the systems being evaluated, that must be corrected to maintain adequate security. The contractors and DOE share responsibility for correcting deficiencies. Contractors, in correcting deficiencies, must comply with several DOE orders. The contractors' performances were not adequate in conducting four of the eight procedures considered necessary in meeting DOE's deficiency correction requirements. For 19 of the 20 deficiency cases we reviewed, contractors could not demonstrate that they had conducted three critical deficiency analyses (root cause, risk assessment, and cost-benefit) required by DOE. Additionally, the contractors did not always adequately verify that corrective actions taken were appropriate, effective, and complete. The contractors performed the remaining four procedures (reviewing deficiencies for duplication, entering deficiencies into a data base, tracking the status of deficiencies, and preparing and implementing a corrective action plan) adequately in all 20 cases. DOE's oversight of the corrective action process could be improved in three areas. The computerized systems used to track the status of security

  20. ORAL INJURIES ASSOCIATED WITH THE USE OF COMPLETE ENTURE

    Directory of Open Access Journals (Sweden)

    Thanny de Paula Mascarenhas Barbosa

    2011-05-01

    Full Text Available Nowadays the complete denture still is a very used method of treatment in the rehabilitation of persons who lost their teeth. Oral lesions may occur due to the use of denture with deficiency in confection, or even an inadequate orientation of the patient by the dental surgeon about the use of the dentures and its cleaning. Among the oral lesions caused by the use of complete denture most frequent were the chronic atrophic candidiasis, chronic hyperplastic candidiasis, inflammatory fibrous hyperplasia, angular cheilitis, and traumatic ulceration. A neoplasic lesion wasn’t found associated with the use of dentures. This study aims to identify through a literature review of the prevalence of major diseases due to the use of complete dentures as well as their treatments.

  1. Flu Vaccine Guidance for Patients with Immune Deficiency

    Science.gov (United States)

    ... Guidance for Patients with Immune Deficiency Share | Flu Vaccine Guidance for Patients with Immune Deficiency This article ... should patients with immune deficiency be given the vaccine? Immune deficient patients have a decreased resistance to ...

  2. Impact of vitamin D deficiency on increased blood eosinophil counts.

    Science.gov (United States)

    Souto Filho, João Tadeu Damian; de Andrade, Alícia Souza; Ribeiro, Felipe Mesquita; Alves, Paola de Araujo Sardenberg; Simonini, Virgínia Ribeiro Fernandes

    2018-03-01

    Vitamin D has been increasingly recognized as an immunomodulatory agent. Its deficiency has been associated with immune-mediated diseases such as asthma, rhinitis, and atopic dermatitis. These allergic conditions are dependent on T-helper type 2 (Th2) cells secreting interleukins, overproduction of immunoglobulin E (IgE), and eosinophil activation. We investigated the association between serum vitamin D levels and blood absolute eosinophil count. We carried out a cross-sectional study of 669 men and women referred to a clinical pathology laboratory who underwent 25-hydroxyvitamin D testing and complete blood count analysis on the same day. Vitamin D levels were stratified into four ranges: severely deficient (p=.001). The difference was significant between the severe deficiency group and each of the other three groups (p=.012, p=.002, and p=.001, respectively). There was no statistical difference among the four groups in terms of total leukocyte counts (p=.151), neutrophils (p=.177), or lymphocytes (p=.582). Vitamin D deficiency was associated with higher blood eosinophil count. These results support the possible role of vitamin D in the eosinophil immune response. Copyright © 2017 King Faisal Specialist Hospital & Research Centre. Published by Elsevier B.V. All rights reserved.

  3. Awareness of vitamin D deficiency among at-risk patients

    Directory of Open Access Journals (Sweden)

    Alemu Esubalew

    2012-01-01

    Full Text Available Abstract Background Vitamin D deficiency is a significant problem for a growing proportion of the UK population. Individuals with dark or covered skin are at particularly high risk due to ethno-cultural, environmental and genetic factors. We assessed the level of awareness of vitamin D deficiency among at-risk patients in order to identify groups most in need of education. Findings A cross-sectional survey using a piloted questionnaire was conducted among consecutive at-risk patients without a diagnosis of Vitamin D deficiency arriving at a large inner city general practice in the North West of England over a five day period. The survey was completed by 221 patients. The mean age was 35 years. 28% of them (n = 61 had never heard about vitamin D. Older patients (p = 0.003 were less likely to have heard about vitamin D. 54% of participants were unaware of the commonest symptoms of vitamin D deficiency. 34% did not expose their skin other than their face in the last one year, and 11% did not include vitamin D rich foods in their diet. Conclusion The majority of at-risk patients are aware of vitamin D; nevertheless, there is a significant lack of knowledge among older people, who have higher morbidity. A programme of targeted education of the at-risk population is recommended.

  4. RAG1 deficiency may present clinically as selective IgA deficiency.

    Science.gov (United States)

    Kato, Tamaki; Crestani, Elena; Kamae, Chikako; Honma, Kenichi; Yokosuka, Tomoko; Ikegawa, Takeshi; Nishida, Naonori; Kanegane, Hirokazu; Wada, Taizo; Yachie, Akihiro; Ohara, Osamu; Morio, Tomohiro; Notarangelo, Luigi D; Imai, Kohsuke; Nonoyama, Shigeaki

    2015-04-01

    Recombination-activating gene (RAG) 1 and 2 deficiency is seen in patients with severe combined immunodeficiency (SCID) and Omenn syndrome. However, the spectrum of the disease has recently expanded to include a milder phenotype. We analyzed a 4-year-old boy who was initially given the diagnosis of selective immunoglobulin A deficiency (SIgAD) based on immunoglobulin serum levels without any opportunistic infections, rashes, hepatosplenomegaly, autoimmunity or granulomas. The patient was found to be infected with varicella zoster; however, the clinical course was not serious. He produced antiviral antibodies. We performed lymphocyte phenotyping, quantification of T cell receptor excision circles (TRECs) and kappa deleting recombination excision circles (KRECs), an analysis of target sequences of RAG1 and 2, a whole-genome SNP array, an in vitro V(D)J recombination assay, a spectratype analysis of the CDR3 region and a flow cytometric analysis of the bone marrow. Lymphocyte phenotyping demonstrated that the ratio of CD4+ to CD8+ T cells was inverted and the majority of CD4+T cells expressed CD45RO antigens in addition to the almost complete lack of B cells. Furthermore, both TRECs and KRECs were absent. Targeted DNA sequencing and SNP array revealed that the patient carried a deletion of RAG1 and RAG2 genes on the paternally-derived chromosome 11, and two maternally-derived novel RAG1 missense mutations (E455K, R764H). In vitro analysis of recombination activity showed that both RAG1 mutant proteins had low, but residual function. The current case further expands the phenotypic spectrum of mild presentations of RAG deficiency, and suggests that TRECs and KRECs are useful markers for detecting hidden severe, as well as mild, cases.

  5. Complete Normal Ordering 1: Foundations

    CERN Document Server

    Ellis, John; Skliros, Dimitri P.

    2016-01-01

    We introduce a new prescription for quantising scalar field theories perturbatively around a true minimum of the full quantum effective action, which is to `complete normal order' the bare action of interest. When the true vacuum of the theory is located at zero field value, the key property of this prescription is the automatic cancellation, to any finite order in perturbation theory, of all tadpole and, more generally, all `cephalopod' Feynman diagrams. The latter are connected diagrams that can be disconnected into two pieces by cutting one internal vertex, with either one or both pieces free from external lines. In addition, this procedure of `complete normal ordering' (which is an extension of the standard field theory definition of normal ordering) reduces by a substantial factor the number of Feynman diagrams to be calculated at any given loop order. We illustrate explicitly the complete normal ordering procedure and the cancellation of cephalopod diagrams in scalar field theories with non-derivative i...

  6. 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.

  7. Functional significance of early-life iron deficiency: outcomes at 25 years.

    Science.gov (United States)

    Lozoff, Betsy; Smith, Julia B; Kaciroti, Niko; Clark, Katy M; Guevara, Silvia; Jimenez, Elias

    2013-11-01

    To evaluate adulthood function following chronic iron deficiency in infancy. At 25 years, we compared 33 subjects with chronic iron deficiency in infancy to 89 who were iron-sufficient before and/or after iron therapy. Outcomes included education, employment, marital status, and physical and mental health. Adjusting for sex and socioeconomic status, a higher proportion of the group with chronic iron deficiency did not complete secondary school (58.1% vs 19.8% in iron-sufficient group; Wald value = 8.74; P = .003), were not pursuing further education/training (76.1% vs 31.5%; Wald value = 3.01; P = .08; suggestive trend), and were single (83.9% vs 23.7%, Wald value = 4.49; P = .03). They reported poorer emotional health and more negative emotions and feelings of dissociation/detachment. Results were similar in secondary analyses comparing the chronic iron-deficient group with subjects in the iron-sufficient group who had been iron-deficient before treatment in infancy. Path analysis showed direct paths for chronic iron deficiency in infancy and being single and more detachment/dissociation at 25 years. There were indirect paths for chronic iron deficiency and not completing secondary school via poorer cognitive functioning in early adolescence and more negative emotions via behavior problems in adolescence, indicating a cascade of adverse outcomes. The observational nature of this study limits our ability to draw causal inference, even when controlling for background factors. Nonetheless, our results indicate substantial loss of human potential. There may be broader societal implications, considering that many adults worldwide had chronic iron deficiency in infancy. Iron deficiency can be prevented or treated before it becomes chronic or severe. Copyright © 2013 Mosby, Inc. All rights reserved.

  8. Toward reassessing data-deficient species.

    Science.gov (United States)

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

    2017-06-01

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

  9. Nutrient deficiencies prior to bariatric surgery.

    Science.gov (United States)

    Roust, Lori R; DiBaise, John K

    2017-03-01

    The purpose of this review is to provide an update of recent additions to our understanding of the prevalence of nutrient deficiencies and the potential role of preoperative weight loss in contributing to these deficiencies in obese individuals planning to undergo bariatric surgery. Recent reports that have included bariatric surgery candidates from sites around the world have shown consistent deficiencies in a variety of nutrients. Although protein-energy malnutrition is uncommon preoperatively, micronutrient deficiencies occur commonly with multiple deficiencies often present in the same individual. No difference in the prevalence of deficiency between men and women is apparent, and a standard profile of susceptibility to deficiency has not been identified. In the only studies that have evaluated dietary intake of total energy, macronutrients and micronutrients preoperatively, despite an excess of calories ingested, micronutrient intake tends to be lower than recommended. A high prevalence of micronutrient deficiencies, especially vitamin D, folate, B12 and iron, is present in obese individuals being considered for bariatric surgery. Despite high-caloric intake, the deficiencies present appear to be related to the poor quality of the diet and low micronutrient intake. These findings strengthen prior recommendations of routine preoperative nutritional screening. Because a standard profile of susceptibility to deficiency has not been identified, extensive nutritional screening, including micronutrient testing, should be considered in all patients in the preoperative setting. Finally, we recommend early supplementation of vitamins and minerals based on laboratory assessment and incorporation of a program to optimize eating behaviors prior to surgery.

  10. A-3 steel work completed

    Science.gov (United States)

    2009-01-01

    Stennis Space Center engineers celebrated a key milestone in construction of the A-3 Test Stand on April 9 - completion of structural steel work. Workers with Lafayette (La.) Steel Erector Inc. placed the last structural steel beam atop the stand during a noon ceremony attended by more than 100 workers and guests.

  11. Complete nitrification by Nitrospira bacteria

    DEFF Research Database (Denmark)

    Daims, Holger; Lebedeva, Elena V.; Pjevac, Petra

    2015-01-01

    Nitrification, the oxidation of ammonia via nitrite to nitrate, has always been considered to be a two-step process catalysed by chemolithoautotrophic microorganisms oxidizing either ammonia or nitrite. No known nitrifier carries out both steps, although complete nitrification should be energetic...

  12. The Completeness Theorem of Godel

    Indian Academy of Sciences (India)

    GENERAL I ARTICLE. The Completeness Theorem of Godel. 2. Henkin's Proof for First Order Logic. S M Srivastava is with the. Indian Statistical,. Institute, Calcutta. He received his PhD from the Indian Statistical. Institute in 1980. His research interests are in descriptive set theory. I Part 1. An Introduction to Math- ematical ...

  13. YB0 SERVICES INSTALLATION COMPLETED

    CERN Document Server

    The beauty of the completed YB0 was briefly visible at P5 as preparations continue for Tracker installation. A tremendous effort, lasting 7 months and involving more than 100 workers on the busiest days, resulted in 5700 electrical cables, 780 optical cables with 65k fibre channels, and 550 pipes laid on YB0 for HB, EB and Tracker.

  14. Program Costs and Student Completion

    Science.gov (United States)

    Manning, Terri M.; Crosta, Peter M.

    2014-01-01

    Community colleges are under pressure to increase completion rates, prepare students for the workplace, and contain costs. Colleges need to know the financial implications of what are often perceived as routine decisions: course scheduling, program offerings, and the provision of support services. This chapter presents a methodology for estimating…

  15. Completely integrable operator evolutionary equations

    International Nuclear Information System (INIS)

    Chudnovsky, D.V.

    1979-01-01

    The authors present natural generalizations of classical completely integrable equations where the functions are replaced by arbitrary operators. Among these equations are the non-linear Schroedinger, the Korteweg-de Vries, and the modified KdV equations. The Lax representation and the Baecklund transformations are presented. (Auth.)

  16. Structural Completeness in Fuzzy Logics

    Czech Academy of Sciences Publication Activity Database

    Cintula, Petr; Metcalfe, G.

    2009-01-01

    Roč. 50, č. 2 (2009), s. 153-183 ISSN 0029-4527 R&D Projects: GA MŠk(CZ) 1M0545 Institutional research plan: CEZ:AV0Z10300504 Keywords : structral logics * fuzzy logics * structural completeness * admissible rules * primitive variety * residuated lattices Subject RIV: BA - General Mathematics

  17. Completeness in Hybrid Type Theory

    DEFF Research Database (Denmark)

    Areces, Carlos; Blackburn, Patrick Rowan; Huertas, Antonia

    2014-01-01

    We show that basic hybridization (adding nominals and @ operators) makes it possible to give straightforward Henkin-style completeness proofs even when the modal logic being hybridized is higher-order. The key ideas are to add nominals as expressions of type t, and to extend to arbitrary types th...

  18. Largest particle detector nearing completion

    CERN Multimedia

    2006-01-01

    "Construction of another part of the Large Hadron Collider (LHC), the worl's largest particle accelerator at CERN in Switzerland, is nearing completion. The Compact Muon Solenoid (CMS) is oner of the LHC project's four large particle detectors. (1/2 page)

  19. Organophosphate exposure with pseudocholinesterase deficiency.

    Science.gov (United States)

    Lurati, Ann R

    2013-06-01

    A 36-year-old correctional officer was exposed to lice while at work and self-treated with chlorpyrifos, an organophosphate. The correctional officer applied chlorpyrifos to her entire body and did not wash it off for 8 to 12 hours. Eight hours after the initial application, the correctional officer developed abdominal cramps, diarrhea, sweating, excessive salivation, frequent urination, and increased bronchial secretions. After a phone consultation with the occupational health clinic, the correctional officer reported to the emergency department, was diagnosed with organophosphate toxicity, and was treated with atropine. Later testing revealed that the correctional officer had pseudocholinesterase deficiency. Copyright 2013, SLACK Incorporated.

  20. 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...

  1. Molecular characterization of benzoxazinone-deficient mutation in diploid wheat.

    Science.gov (United States)

    Nomura, Taiji; Ishihara, Atsushi; Iwamura, Hajime; Endo, Takashi R

    2007-04-01

    Benzoxazinones (Bxs) are representative defensive compounds in gramineous plants, including wheat (genus Triticum) and its wild relative species (genus Aegilops). Bx production was found to be variable among three diploid wheat species with the same A genome as hexaploid wheat (2n=6x=42, genomes AABBDD). All accessions of Triticum monococcum (2n=2x=14, AA) and Triticum urartu (2n=2x=14, AA) accumulated Bxs, but 18 out of 28 accessions of Triticum boeoticum (2n=2x=14, AA) were Bx-deficient. Bx-deficient accessions were grouped into two types by genomic PCR analysis of the five Bx biosynthetic loci (TbBx1-TbBx5): those retaining all five loci (type I) and those lacking TbBx3 and TbBx4 loci (type II). Despite the Bx-deficient phenotype, all five TbBx genes were transcribed in the type-I accessions. The Bx deficiency in one accession of type I was due to the disintegration of the TbBx1, TbBx4 and TbBx5 genes due to insertions or deletions in their coding sequences. The TbBx2 and TbBx3 genes of those accessions had the complete sequences of the functional enzymes. In the type-II accessions, the remaining three genes, TbBx1, TbBx2 and TbBx5, were all transcribed, with the exception of two accessions in which either TbBx1 or TbBx5 was not transcribed. The TbBx1 coding sequence of the type-II accessions was also disintegrated, like that of the type-I accessions. These findings suggest that the Bx deficiency in T. boeoticum first resulted from disintegration of the TbBx1 coding sequence, followed by transcription failure, disintegration of the coding sequences and elimination of the TbBx1-TbBx5 genes.

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

    Science.gov (United States)

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

    2010-07-16

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

  3. 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.

  4. Prevalence and hematological indicators of G6PD deficiency in malaria-infected patients.

    Science.gov (United States)

    Kotepui, Manas; Uthaisar, Kwuntida; PhunPhuech, Bhukdee; Phiwklam, Nuoil

    2016-04-25

    This study aimed to evaluate the prevalence and alteration of hematological parameters in malaria patients with a glucose-6-phosphate dehydrogenase (G6PD) deficiency, in the western region of Thailand, an endemic region for malaria. Data about patients with malaria hospitalized between 2013 and 2015 were collected. Clinical and sociodemographic characteristics such as age and gender, diagnosis on admission, and parasitological results were mined from medical records of the laboratory unit of the Phop Phra Hospital in Tak Province, Thailand. Venous blood samples were collected at the time of admission to hospital to determine G6PD deficiency by fluorescence spot test and detect malaria parasites by thick and thin film examination. Other data such as complete blood count and parasite density were also collected and analyzed. Among the 245 malaria cases, 28 (11.4 %) were diagnosed as Plasmodium falciparum infections and 217 cases (88.6 %) were diagnosed as P. vivax infections. Seventeen (6.9 %) patients had a G6PD deficiency and 228 (93.1 %) patients did not have a G6PD deficiency. Prevalence of male patients with G6PD deficiency was higher than that of female patients (P G6PD deficiency, two (11.8 %) were infected with P. falciparum, while the remaining were infected with P. vivax. Malaria patients with a G6PD deficiency have higher monocyte counts (0.6 × 10(3)/μL) than those without a G6PD deficiency (0.33 × 10(3)/μL) (P G6PD deficiency have high monocyte counts. The association between G6PD status and monocyte counts was independent of age, gender, nationality, Plasmodium species, and parasite density (P G6PD deficiency in a malaria-endemic area. This study also supported the assertion that patients with G6PD-deficient red blood cells had no protection against the P. falciparum infection. In addition, malaria patients with a G6PD deficiency had higher monocyte counts than those without a G6PD deficiency. These findings will help to recognize and

  5. UV-Completion by Classicalization

    CERN Document Server

    Dvali, Gia; Gomez, Cesar; Kehagias, Alex

    2011-01-01

    We suggest a novel approach to UV-completion of a class of non-renormalizable theories, according to which the high-energy scattering amplitudes get unitarized by production of extended classical objects (classicalons), playing a role analogous to black holes, in the case of non-gravitational theories. The key property of classicalization is the existence of a classicalizer field that couples to energy-momentum sources. Such localized sources are excited in high-energy scattering processes and lead to the formation of classicalons. Two kinds of natural classicalizers are Nambu-Goldstone bosons (or, equivalently, longitudinal polarizations of massive gauge fields) and scalars coupled to energy-momentum type sources. Classicalization has interesting phenomenological applications for the UV-completion of the Standard Model both with or without the Higgs. In the Higgless Standard Model the high-energy scattering amplitudes of longitudinal $W$-bosons self-unitarize via classicalization, without the help of any new...

  6. Complete spacelike immersions with topology

    International Nuclear Information System (INIS)

    Harris, S.G.

    1988-01-01

    A fairly large class of Lorentz manifolds is defined, called WH normal manifolds, which are approximately those for which timelike infinity is a single point. It is shown that, in such a space, an immersed spacelike hypersurface which is complete must, if it is self-intersecting, not achronal or proper, satisfy strong topological conditions; in particular, if the immersion is injective in the fundamental group, then the hypersurface must be closed, embedded and achronal (i.e. a partial Cauchy surface). WH normal spaces include products of any Riemannian manifold with Minkowski 1-space; in such space, a complete immersed spacelike hypersurface must be immersed as a covering space for the Riemannian factor. (author)

  7. [Anterior guidance in complete dentures].

    Science.gov (United States)

    Dubreuil, J; Trevelo, A

    1990-01-01

    Although the anterior guidance in complete dentures is not really a guide, the arrangement of the anterior maxillary and mandibular prosthetic teeth, defines a propulsive line called the virtual anterior guidance, a part from the cinematic criterias. The influence of this guide on cuspal movement is superior, in all mandibular points, to the influence of the condylar pathway. If this line is not respected, the practitioner may have to do excessive grindings during occlusal adjustments.

  8. SOUR graphs for efficient completion

    OpenAIRE

    Lynch, Christopher; Strogova, Polina

    1998-01-01

    International audience; We introduce a data structure called \\emphSOUR graphs and present an efficient Knuth-Bendix completion procedure based on it. \\emphSOUR graphs allow for a maximal structure sharing of terms in rewriting systems. The term representation is a dag representation, except that edges are labelled with equational constraints and variable renamings. The rewrite rules correspond to rewrite edges, the unification problems to unification edges. The Critical Pair and Simplificatio...

  9. Complete normal ordering 1: Foundations

    Directory of Open Access Journals (Sweden)

    John Ellis

    2016-08-01

    Full Text Available We introduce a new prescription for quantising scalar field theories (in generic spacetime dimension and background perturbatively around a true minimum of the full quantum effective action, which is to ‘complete normal order’ the bare action of interest. When the true vacuum of the theory is located at zero field value, the key property of this prescription is the automatic cancellation, to any finite order in perturbation theory, of all tadpole and, more generally, all ‘cephalopod’ Feynman diagrams. The latter are connected diagrams that can be disconnected into two pieces by cutting one internal vertex, with either one or both pieces free from external lines. In addition, this procedure of ‘complete normal ordering’ (which is an extension of the standard field theory definition of normal ordering reduces by a substantial factor the number of Feynman diagrams to be calculated at any given loop order. We illustrate explicitly the complete normal ordering procedure and the cancellation of cephalopod diagrams in scalar field theories with non-derivative interactions, and by using a point splitting ‘trick’ we extend this result to theories with derivative interactions, such as those appearing as non-linear σ-models in the world-sheet formulation of string theory. We focus here on theories with trivial vacua, generalising the discussion to non-trivial vacua in a follow-up paper.

  10. 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...

  11. Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates

    Directory of Open Access Journals (Sweden)

    Obediat, Ahmad D.

    2008-09-01

    Full Text Available Objective: The mechanism by which glucose-6-phosphate dehydrogenase (G6PD deficiency causes neonatal hyperbilirubinemia is not completely understood. However, the genetic disorder G6PD deficiency predisposes red blood cells to oxidative stress. The aim of this study was to establish the relationship between plasma antioxidant vitamin (E and C levels and the development of hyperbilirubinemia in full-term neonates with deficient G6PD. Methods: A total of 196 live birth neonates of healthy mothers were included in this study. Twelve of them were deficient in G6PD. In addition to demographic data, serum total bilirubin, hemoglobin, hematocrit, and vitamin E and C levels were measured on the first day after birth.Results: Neonates with G6PD deficiency (n=7 who did not develop hyperbilirubinemia (mean serum bilirubin level of 70.8±23 µmol/l, median 71.8 and neonates with G6PD deficiency (n=4 who developed hyperbilirubinemia (mean serum bilirubin level of 226.7±79 µmol/l, median 233.4 on the first day of life had similar gestational weights and age. The second group, however, had lower hemoglobin and hematocrit as well as plasma vitamin C and E levels. None of these results showed significant difference. Conclusion: The results of the present study indicate that red blood cell hemolysis as a result of inadequate antioxidants system in G6PD-deficient neonates is not the only contributing factor for hyperbilirubinemia.

  12. Fiber optic spectrophotometry monitoring of plant nutrient deficiency under hydroponic culture conditions

    Science.gov (United States)

    Liew, Oi Wah; Boey, William S. L.; Asundi, Anand K.; Chen, Jun-Wei; He, Duo-Min

    1999-05-01

    In this paper, fiber optic spectrophotometry (FOSpectr) was adapted to provide early detection of plant nutrient deficiency by measuring leaf spectral reflectance variation resulting from nutrient stress. Leaf reflectance data were obtained form a local vegetable crop, Brassica chinensis var parachinensis (Bailey), grown in nitrate-nitrogen (N)- and calcium (Ca)- deficient hydroponics nutrient solution. FOSpectr analysis showed significant differences in leaf reflectance within the first four days after subjecting plants to nutrient-deficient media. Recovery of the nutrient-stressed plants could also be detected after transferring them back to complete nutrient solution. In contrast to FOSpectr, plant response to nitrogen and calcium deficiency in terms of reduced growth and tissue elemental levels was slower and less pronounced. Thus, this study demonstrated the feasibility of using FOSpectr methodology as a non-destructive alternative to augment current methods of plant nutrient analysis.

  13. Red cell distribution width in the diagnosis of iron deficiency anemia and thalassemia trait

    International Nuclear Information System (INIS)

    Adil, M.M.; Junaid, A.; Zaman, I.; Ishtiaque, Z.B.

    2010-01-01

    To evaluate diagnostic importance of Red Cell Distribution Width (RDW) in differentiating iron deficiency anemia from Thalassemia trait. A total of 100 cases aged 5 months to 50 years of either sex with diagnosed iron deficiency anemia or thalassemia trait were compared with respect to their RDW value. RDW value in iron deficiency anemia was between 36.2% to 55.2% (Mean 44.1%). The range of RDW in Thalassemia trait was 14.7% to 24.9% (Mean 19.8%). Conclusions The very high range of RDW in iron deficiency anemia as compared to slight elevation of the value in thalassemia trait in our study suggests that RDW value obtained from simple Complete Blood Counts (CBC) can help in differentiating the two pathologies. (author)

  14. Cobalamin deficiency resulting in a rare haematological disorder: a case report

    Directory of Open Access Journals (Sweden)

    Chapuis Thomas M

    2009-10-01

    Full Text Available Abstract Introduction We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency. Case presentation A 52-year-old man from the Democratic Republic of Congo presented to the emergency department with shortness of breath and a sore tongue. Physical examination was unremarkable. His haemoglobin was low and the peripheral blood smear revealed pancytopaenia with a thrombotic microangiopathy. The findings were low cobalamin and folate levels, and high homocysteine and methylmalonate levels. Pernicious anaemia with chronic atrophic gastritis was confirmed by gastric biopsy and positive antiparietal cell and anti-intrinsic factor antibodies. Cobalamin with added folate was given. Six months later, the patient was asymptomatic. Conclusion Cobalamin deficiency should always be ruled out in a patient with pancytopaenia. Our case report highlights a life-threatening cobalamin deficiency completely reversible after treatment.

  15. On convergence completeness in symmetric spaces | Moshokoa ...

    African Journals Online (AJOL)

    convergence complete symmetric space. As applications of convergence completeness, we present some fixed point results for self-maps defined on a symmetric space. Keywords: completeness; convergence completeness; fixed points; metric ...

  16. Robert Zajonc: The Complete Psychologist

    Science.gov (United States)

    Berridge, Kent C.

    2010-01-01

    This article joins with others in the same issue to celebrate the career of Robert B. Zajonc who was a broad, as well as deeply talented, psychologist. Beyond his well-known focus in social psychology, the work of Zajonc also involved, at one time or another, forays into nearly every other subfield of psychology. This article focuses specifically on his studies that extended into biopsychology, which deserve special highlighting in order to be recognized alongside his many major achievements in emotion and related social topics. The biopsychological focus is offered here in the hope that all his diverse contributions be savored together when celebrating the complete psychology of Robert Zajonc. PMID:22473376

  17. Juvenile eye growth, when completed?

    DEFF Research Database (Denmark)

    Fledelius, Hans C; Christensen, Anders S; Fledelius, Christian

    2014-01-01

    PURPOSE: To test Sorsby's classical statement of axial eye growth as completed at the age of 13 years, with a view also to differentiating between basic eye growth and juvenile elongation associated with eventual refractive change towards myopia. METHODS: (i) A total of 160 healthy eyes close...... about age 13 as general limit found support from the cross-sectional data, which suggested stable emmetropic eye size from about 11-12 years, with an average apparently outgrown male emmetropic value of 23.5 mm versus females' 22.9 mm. The longitudinal data, however, showed emmetropic growth also beyond...

  18. Projective modules and complete intersections

    CERN Document Server

    Mandal, Satya

    1997-01-01

    In these notes on "Projective Modules and Complete Intersections" an account on the recent developments in research on this subject is presented. The author's preference for the technique of Patching isotopic isomorphisms due to Quillen, formalized by Plumsted, over the techniques of elementary matrices is evident here. The treatment of Basic Element theory here incorporates Plumstead's idea of the "generalized dimension functions". These notes are highly selfcontained and should be accessible to any graduate student in commutative algebra or algebraic geometry. They include fully self-contained presentations of the theorems of Ferrand-Szpiro, Cowsik-Nori and the techniques of Lindel.

  19. The hobbit - an unexpected deficiency.

    Science.gov (United States)

    Hopkinson, Joseph A; Hopkinson, Nicholas S

    2013-12-16

    Vitamin D has been proposed to have beneficial effects in a wide range of contexts. We investigate the hypothesis that vitamin D deficiency, caused by both aversion to sunlight and unwholesome diet, could also be a significant contributor to the triumph of good over evil in fantasy literature. Data on the dietary habits, moral attributes and martial prowess of various inhabitants of Middle Earth were systematically extracted from J R R Tolkien's novel The hobbit. Goodness and victoriousness of characters were scored with binary scales, and dietary intake and habitual sun exposure were used to calculate a vitamin D score (range, 0-4). The vitamin D score was significantly higher among the good and victorious characters (mean, 3.4; SD, 0.5) than the evil and defeated ones (mean, 0.2; SD, 0.4; P imagined.

  20. Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia

    LENUS (Irish Health Repository)

    McGrath, T

    2018-01-01

    We describe the case of a 17-month-old boy with a hypochromic microcytic anaemia, refractory to oral iron treatment. After exclusion of dietary and gastrointestinal causes of iron deficiency, a genetic cause for iron deficiency was confirmed by finding two mutations in the TMPRSS6 gene, consistent with a diagnosis of iron-refractory iron deficiency anaemia (IRIDA).

  1. Absolute and Functional Iron Deficiency Anemia among Different Tumors in Cancer Patients in South Part of Iran, 2014

    Science.gov (United States)

    Hashemi, Seyed Mehdi; Mashhadi, Mohammad Ali; Mohammadi, Mehdi; Ebrahimi, Maryam; Allahyari, Abolghasem

    2017-01-01

    Background: Anemia is a common problem in cancer patients. This study aimed to investigate the frequency rate of absolute and functional iron deficiency anemia among different tumors and its distribution in different stages of cancer in solid tumors. Materials and Methods: This study was performed on 597 patients with cancer referred to Ali-Ebne-Abitaleb Hospital in Zahedan. Laboratory tests included serum iron, transferrin saturation, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and complete blood count (CBC). The malignancy type and stages were recorded. Data were analysed using SPSS statistics software (Ver.19). Results: Four hundred and fifty-seven patients (76.5 %) diagnosed with solid tumors and 140 (23.5%) suffered from hematologic malignancies. Among patients with solid tumors, functional iron deficiency had the highest rate (300 patients had anemia and 243 (53.2%) of whom were functionally iron deficient), but in hematologic malignancies most of patients had not iron deficiency (66 patients had not iron deficiency against 12 patients had absolute iron deficiency and 62 patients had functional iron deficiency anemia) (P-value=0.021). No significant differences were observed among the various stages of cancers in terms of degrees of iron deficiency (P>0.05). Conclusion: The results of the study showed that solid tumors had a higher rate of absolute and functional iron deficiency anemia, compared to hematologic malignancies. But there was no difference between the different stages of the disease. PMID:28989585

  2. SPS completes LS1 activities

    CERN Multimedia

    Katarina Anthony

    2014-01-01

    On 27 June, the SPS closed its doors to the LS1 engineers, bringing to an end almost 17 months of activities. The machine now enters the hardware-testing phase in preparation for an October restart.   Photo 1: The SPS transfer tunnel, TT10, reinforced with steal beams. Having completed their LS1 activities right on schedule (to the day!), the SPS team is now preparing the machine for its restart. Over the next eight weeks, hardware tests of the SPS dipole and quadrupole power converters will be underway, led by the TE-EPC (Electrical Power Converters) team. "OP start-up test activities will also be running in parallel, utilising the off hours when EPC is not using the machine," says David McFarlane, the SPS technical coordinator from the Engineering Department. "The primary beam testing phase will start at the beginning of September, once hardware tests and DSO safety tests have been completed." It has been a long journey to this point, with several major...

  3. Completion of the TRT Barrel

    CERN Multimedia

    Gagnon, P

    On February 3, the US-TRT team proudly completed the installation of the 96th barrel TRT module on its support structure in the SR building at CERN. This happy event came after many years of R&D initiated in the nineties by the TA1 team at CERN, followed by the construction of the modules in three American institutes (Duke, Hampton and Indiana Universities) from 1996 to 2003. In total, the 96 barrel modules contain 52544 kapton straws, each 4 mm in diameter and strung with a 30 micron gold-plated tungsten wire. Each wire was manually inserted, a feat in itself! The inner layer modules contain 329 straws, the middle layer modules have 520 straws and the outer layer, 793 straws. Thirty- two modules of each type form a full layer. Their special geometry was designed such as to leave no dead region. On average, a particle will cross 36 straws. Kirill Egorov, Chuck Mahlon and John Callahan inserted the last module in the Barrel Support Structure. After completion in the US, all modules were transferred...

  4. AEgIS installation completed

    CERN Multimedia

    Katarina Anthony

    2012-01-01

    Gravity. Despite first being described over three centuries ago, it remains one of the least understood of the fundamental forces explored by physicists. At CERN’s recently completed AEgIS experiment, a team has set out to examine the effect of gravity on an as-yet-uncharted realm: antimatter.   The complete AEgIS set-up. Located in the AD hall, the AEgIS experiment plans to  make the first direct measurement of Earth’s gravitation effect on antimatter. By sending a beam of antihydrogen atoms through very thin gratings, the experiment will be able to measure how far the antihydrogen atoms fall and in how much time – giving the AEgIS team a measurement of the gravitational coupling. “By the end of 2012, we had finished by putting all the elements of the experiment together,” explains Michael Doser, AEgIS Spokesperson. “Now we have to show that they can all work together and, unfortunately, we will have no antiproton beams fo...

  5. LHCf completes its first run

    CERN Multimedia

    CERN Bulletin

    2010-01-01

    LHCf, one of the three smaller experiments at the LHC, has completed its first run. The detectors were removed last week and the analysis of data is continuing. The first results will be ready by the end of the year.   One of the two LHCf detectors during the removal operations inside the LHC tunnel. LHCf is made up of two independent detectors located in the tunnel 140 m either side of the ATLAS collision point. The experiment studies the secondary particles created during the head-on collisions in the LHC because they are similar to those created in a cosmic ray shower produced when a cosmic particle hits the Earth’s atmosphere. The focus of the experiment is to compare the various shower models used to estimate the primary energy of ultra-high-energy cosmic rays. The energy of proton-proton collisions at the LHC will be equivalent to a cosmic ray of 1017eV hitting the atmosphere, very close to the highest energies observed in the sky. “We have now completed the fir...

  6. Fluorescence spectral classification of iron deficiency anemia and thalassemia.

    Science.gov (United States)

    Devanesan, Sandhanasamy; Mohamad Saleh, AlSalhi; Ravikumar, Mani; Perinbam, Kantharaj; Prasad, Saradh; Abbas, H Al-Saeed; Palled, Siddanna R; Jeyaprakash, Karuppaiah; Masilamani, Vadivel

    2014-02-01

    Thalassemia (Thal), sickle cell anemia, and iron deficiency anemia (IDA) are the most common blood disorders in many parts of the world, particularly in developing countries like India and Bangladesh. The well-established diagnostic procedure for them is the complete blood count (CBC); however, there is substantial confusion in discrimination between Thal and IDA blood samples based on such CBC. We propose a new spectral technique for reliable classification between the above two anemias. This is based on the identification and quantification of a certain set of fluorescent metabolites found in the blood samples of patients of Thal and IDA.

  7. Iron deficiency anemia among kindergarten children living in the marginalized areas of Gaza Strip, Palestine

    Directory of Open Access Journals (Sweden)

    Mahmoud Mohammed Sirdah

    2014-04-01

    Full Text Available Background: iron deficiency anemia is the most common type of nutritional anemia; it has been recognized as an important health problem in Palestine. This study was conducted to estimate the prevalence and to identify possible risk factors of iron deficiency anemia among kindergarten children living in the marginalized areas of the Gaza Strip and to evaluate the effectiveness of supplementing oral iron formula in the anemic children. Methods: the study included 735 (384 male and 351 female kindergarten children. Data was collected by questionnaire interviews, anthropometric measurements, and complete blood count analysis. All iron deficient anemic children were treated using an oral iron formula (50 mg ferrous carbonate + 100 mg vitamin C /5 mL and the complete blood count was reassessed after three months. A univariate analysis and a multiple logistic regression model were constructed; crude and adjusted odds ratios (OR, and 95% confidence intervals (95% CI were calculated. Results: the overall prevalence of iron deficiency anemia was 33.5% with no significant differences between boys and girls. Significantly different prevalences of iron deficiency anemia were reported between different governorates of the Gaza Strip. Governorate, low education level of the parents and smoking are significant risk factors for children developing anemia. Significantly lower complete blood count parameters, except for WBC, were reported in anemic children. The oral iron treatment significantly improved hemoglobin concentrations, and normalized the iron deficiency marker. Conclusions: iron deficiency anemia is a serious health problem among children living in the marginalized areas of the Gaza Strip, which justifies the necessity for national intervention programs to improve the health status for the less fortunate development areas.

  8. How common is vitamin B12 deficiency?

    Science.gov (United States)

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

  9. Prenatal diagnostic procedure for leukocyte adhesion deficiency

    NARCIS (Netherlands)

    Weening, R. S.; Bredius, R. G.; Wolf, H.; van der Schoot, C. E.

    1991-01-01

    Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is

  10. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... be associated with a deficiency of the hormone cortisol . Cortisol deficiency can impair the body's immune system, causing ... proteins called transcription factors, which help control the activity of many ... play a role in sexual development and the ability to have children (fertility); ...

  11. Nutrient deficiencies secondary to bariatric surgery.

    Science.gov (United States)

    Alvarez-Leite, Jacqueline I

    2004-09-01

    The number of adolescent and adult patients submitting to bariatric surgery is increasing rapidly around the world. This review describes the literature published in the last few years concerning nutritional deficiencies after bariatric surgery as well as their etiology, incidence, treatment and prevention. Although bariatric surgery was first introduced in the 1950s, safe and successful surgical management has progressed over the last two decades and longer post-surgical follow-up data are now available. Most of the patients undergoing malabsorptive procedures will develop some nutritional deficiency, justifying mineral and multivitamin supplementation to all postoperatively. Nutrient deficiency is proportional to the length of absorptive area and to the percentage of weight loss. Low levels of iron, vitamin B12, vitamin D and calcium are predominant after Roux-en-Y gastric bypass. Protein and fat-soluble vitamin deficiencies are mainly detected after biliopancreatic diversion. Thiamine deficiency is common in patients with frequent vomiting. As the incidence of these deficiencies progresses with time, the patients should be monitored frequently and regularly to prevent malnutrition. Nutritional deficiencies can be prevented if a multidisciplinary team regularly assists the patient. Malnutrition is generally reverted with nutrient supplementation, once it is promptly diagnosed. Especial attention should be given to adolescents, mainly girls at reproductive age who have a substantial risk of developing iron deficiency. Future studies are necessary to detect nutrient abnormalities after new procedures and to evaluate the safety of bariatric surgery in younger obese patients.

  12. Common micronutrient deficiencies among food aid beneficiaries ...

    African Journals Online (AJOL)

    admin

    Abstract. Background: Ethiopia is amongst the African countries that have received significant food aid. Nonetheless, the common micronutrient deficiencies among food aid beneficiaries are not well documented. Objective: To find out the common micronutrient deficiencies among food aid beneficiaries in the country based ...

  13. INTRODUCTION Micronutrient deficiencies are becoming more ...

    African Journals Online (AJOL)

    the recommended strategy for the prevention of micronutrient deficiency, literature provides the basis for the adoption of supplementation programmes in certain circumstances, such as in cases of severe deficiencies. Evidence has shown that the rate of conversion of â-carotene in fruits and vegetables to retinol is less than ...

  14. Mechanism of hypercholesterolemia produced by biotin deficiency ...

    Indian Academy of Sciences (India)

    The effect of biotin deficiency on the metabolism of cholesterol was studied in rats fed cholesterol-free and cholesterol-containing diet. Biotin deficiency induced by feeding raw egg-white resulted in higher cholesterol in the serum and aorta, and higher high density lipoprotein cholesterol and low density lipoprotein + very ...

  15. Vitamin D Deficiency and Tuberculosis Progression

    OpenAIRE

    Talat, Najeeha; Perry, Sharon; Parsonnet, Julie; Dawood, Ghaffar; Hussain, Rabia

    2010-01-01

    To assess the association between vitamin D deficiency and tuberculosis disease progression, we studied vitamin D levels in a cohort of tuberculosis patients and their contacts (N = 129) in Pakistan. Most (79%) persons showed deficiency. Low vitamin D levels were associated with a 5-fold increased risk for progression to tuberculosis.

  16. Review Article: Practical Aspects of Testosterone Deficiency ...

    African Journals Online (AJOL)

    In this review we describe the clinical manifestations associated with testosterone deficiency in aging men, termed the testosterone deficiency syndrome (TDS). Since aging men suffer from multiple urological and andrological symptoms, TDS is an important medical condition to be suspected, recognized, clinically ...

  17. Ferrotherapy of iron deficiency anemia in children

    OpenAIRE

    Berezhniy V.V.; Korneva V.V.

    2016-01-01

    Present article devoted to the steps for implementation unified clinical protocol of the primary, secondary (specialized) medical care «Iron deficiency» to the practical activities of pediatricians, family physicians. The features of ferrotherapy in children of different age groups and the issues of prevention of iron deficiency states are highlighted.

  18. Genetics Home Reference: monoamine oxidase A deficiency

    Science.gov (United States)

    ... Sleep problems, such as trouble falling asleep or night terrors, can also occur in monoamine oxidase A deficiency . Some people with monoamine oxidase A deficiency have episodes of skin flushing, sweating, headaches, ... regulate mood, emotion, sleep, and appetite. Epinephrine and norepinephrine control the body's ...

  19. ADAPTATION TO PROTEIN DEFICIENCY: CORTISOL, THYROXINE ...

    African Journals Online (AJOL)

    Sci.6, I0I- 104 (1976). ADAPTATION TO PROTEIN DEFICIENCY: CORTISOL, THYROXINE,. INSULIN AND GLUCOSE IN YOUNG PIGS. J.M. van der Westhuysen*, P.C. Belonje**. A.P.D. de Satge*** & D.H. Holness***. Nutritional deficiencies place stress on the body. To maintain metabolic integrity. the body adapts by re-.

  20. Dietary recommendations in patients with deficiency anaemia

    Directory of Open Access Journals (Sweden)

    A. Santoyo-Sánchez

    2015-07-01

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

  1. An update on serine deficiency disorders

    NARCIS (Netherlands)

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

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

  2. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency

    DEFF Research Database (Denmark)

    Sass, Jörn Oliver; Ensenauer, Regina; Röschinger, Wulf

    2008-01-01

    -mass spectrometry due to elevated pentanoylcarnitine (C5 acylcarnitine) in blood, but little information is available on the clinical relevance of MBD deficiency. We biochemically and genetically characterize six individuals with MBD deficiency from four families of different ethnic backgrounds. None of the six...

  3. Growth hormone deficiency and hyperthermia during exercise

    DEFF Research Database (Denmark)

    Juul, A; Hjortskov, N; Jepsen, Leif

    1995-01-01

    levels [11 with multiple pituitary deficiency (MPD) and 5 with isolated GH deficiency] and in 10 healthy subjects as controls (CTs). Each subject exercised on a bicycle ergometer for 60 min at a workload corresponding to 45% of their individual maximal oxygen consumption (VO2max), in a room maintained...

  4. Effects of Nutritional variables in children with iron deficiency anemia

    Directory of Open Access Journals (Sweden)

    Ali Ghasemi

    2014-07-01

    Full Text Available Introduction: Iron deficiency (ID is the most prevalent nutritional disorder in the world. The prevalence of iron deficiency anemia (IDA is about 9% in toddlers, 9-11% in adolescent girls and less than 1% in teenage boys. IDA presents when there is not sufficient iron for haemoglobin synthesis. In particular it has negative effects on the behavior, cognitive performance, immune system and physical growth of infants, preschool and school age children. Material and Methods: Blood samples of 337 randomly selected children (6-59 months living in the Ahwaz, Khuzestan province, were taken. Serum ferritin, Complete Blood Cell (CBC and hematological indices were measured Results and Discussion: In this study 61.1% of the children had serum ferritin less than 12mcg/dl. Prevalence of IDA were 29.1 %. The results showed that most children with IDA were at 12-23 months. Families with more than 6 children had 4.49 times greater chance of IDA. The mean of breast-feeding in non-IDA children was higher than IDA children (17.6 and 16.3 months respectively, P>0.05. In this study families who gave tea to their children for 1-11 months had the highest prevalence of IDA. Conclusion: There are several main risk factors for ID & IDA in the children. Parent's illiteracy, family income and using cow's milk before 12 months are among most important risk factors for iron deficiency for children.

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

    Directory of Open Access Journals (Sweden)

    Layara Alexandre Bessa

    2012-12-01

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

  6. Thiamin deficiency in people with obesity.

    Science.gov (United States)

    Kerns, Jennifer C; Arundel, Cherinne; Chawla, Lakhmir S

    2015-03-01

    Although obesity has been viewed traditionally as a disease of excess nutrition, evidence suggests that it may also be a disease of malnutrition. Specifically, thiamin deficiency was found in 15.5-29% of obese patients seeking bariatric surgery. It can present with vague signs and symptoms and is often overlooked in patients without alcohol use disorders. This review explores the relatively new discovery of high rates of thiamin deficiency in certain populations of people with obesity, including the effects of thiamin deficiency and potential underlying mechanisms of deficiency in people with obesity. The 2 observational studies that examined the prevalence in preoperative bariatric surgery patients and gaps in our current knowledge (including the prevalence of thiamin deficiency in the general obese population and whether the current RDA for thiamin meets the metabolic needs of overweight or obese adults) are reviewed. Suggestions for future areas of research are included. © 2015 American Society for Nutrition.

  7. DAQ INSTALLATION IN USC COMPLETED

    CERN Multimedia

    A. Racz

    After one year of work at P5 in the underground control rooms (USC55-S1&S2), the DAQ installation in USC55 is completed. The first half of 2006 was dedicated to the DAQ infrastructures installation (private cable trays, rack equipment for a very dense cabling, connection to services i.e. water, power, network). The second half has been spent to install the custom made electronics (FRLs and FMMs) and place all the inter-rack cables/fibers connecting all sub-systems to central DAQ (more details are given in the internal pages). The installation has been carried out by DAQ group members, coming from the hardware and software side as well. The pictures show the very nice team spirit !

  8. The Completion of SPEAR 3

    Energy Technology Data Exchange (ETDEWEB)

    Hettel, R.

    2005-04-11

    On December 15, 2003, 8 1/2 months after the last electrons circulated in the old SPEAR2 storage ring and 5 days after the beginning of commissioning, the first electrons were accumulated in the completely new SPEAR 3 ring. By January 22, the first 100-mA beam was stored, preparing the path for delivering beam to users in early March of this year. The rapid installation and commissioning are a testimony to the SPEAR 3 project staff and collaborators who have built an excellent machine and equipped it with powerful and accessible machine modeling and control programs. The final year of component fabrication, the 7-month installation period, and present-day SPEAR 3 operation are described.

  9. Completeness of algebraic CPS simulations

    Directory of Open Access Journals (Sweden)

    Ali Assaf

    2012-07-01

    Full Text Available The algebraic lambda calculus and the linear algebraic lambda calculus are two extensions of the classical lambda calculus with linear combinations of terms. They arise independently in distinct contexts: the former is a fragment of the differential lambda calculus, the latter is a candidate lambda calculus for quantum computation. They differ in the handling of application arguments and algebraic rules. The two languages can simulate each other using an algebraic extension of the well-known call-by-value and call-by-name CPS translations. These simulations are sound, in that they preserve reductions. In this paper, we prove that the simulations are actually complete, strengthening the connection between the two languages.

  10. Iron Deficiency Anemia, Not Iron Deficiency, Is Associated with Reduced Attention in Healthy Young Women.

    Science.gov (United States)

    Cook, Rebecca L; O'Dwyer, Nicholas J; Parker, Helen M; Donges, Cheyne E; Cheng, Hoi Lun; Steinbeck, Katharine S; Cox, Eka P; Franklin, Janet L; Garg, Manohar L; Rooney, Kieron B; O'Connor, Helen T

    2017-11-05

    Women of reproductive age are at increased risk for iron deficiency (ID) and iron deficiency anemia (IDA), with both implicated in decreased cognitive function (CF). Obesity may complicate this association via inflammatory-mediated ferritin elevation. This cross-sectional study examined the association between hematological iron status (iron replete (IR), ID or IDA) and CF in healthy, young (18-35 years) women of normal-weight (NW: BMI 18.5-24.9 kg/m²) or obese-weight (OB: BMI >30 kg/m²). Participants completed a validated, computer-based cognition assessment evaluating impulsivity, attention, information processing, memory and executive function; CF reported as z -scores (mean ± SD). Iron status and CF were compared between groups via ANOVA, with adjustment for potential confounders (BMI, physical activity, C-reactive protein) via ANCOVA. A total of 157 NW and 142 OB women (25.8 ± 5.1 years) participated. Prevalence of ID and IDA were 14% and 6% respectively, with no significant difference between NW and OB groups. Women with IDA scored significantly lower on attention (although within normal range; ±1 z -score), compared to ID (IDA: -0.75 ± 1.89; ID: 0.53 ± 1.37; p = 0.004) but not IR (0.03 ± 1.33, p = 0.21) groups; there were no significant differences between ID and IR groups ( p = 0.34). Adjustment for confounders did not significantly alter these results. In conclusion, women with IDA showed significantly reduced attention compared to women with ID.

  11. Iron Deficiency Anemia, Not Iron Deficiency, Is Associated with Reduced Attention in Healthy Young Women

    Directory of Open Access Journals (Sweden)

    Rebecca L. Cook

    2017-11-01

    Full Text Available Women of reproductive age are at increased risk for iron deficiency (ID and iron deficiency anemia (IDA, with both implicated in decreased cognitive function (CF. Obesity may complicate this association via inflammatory-mediated ferritin elevation. This cross-sectional study examined the association between hematological iron status (iron replete (IR, ID or IDA and CF in healthy, young (18–35 years women of normal-weight (NW: BMI 18.5–24.9 kg/m2 or obese-weight (OB: BMI >30 kg/m2. Participants completed a validated, computer-based cognition assessment evaluating impulsivity, attention, information processing, memory and executive function; CF reported as z-scores (mean ± SD. Iron status and CF were compared between groups via ANOVA, with adjustment for potential confounders (BMI, physical activity, C-reactive protein via ANCOVA. A total of 157 NW and 142 OB women (25.8 ± 5.1 years participated. Prevalence of ID and IDA were 14% and 6% respectively, with no significant difference between NW and OB groups. Women with IDA scored significantly lower on attention (although within normal range; ±1 z-score, compared to ID (IDA: −0.75 ± 1.89; ID: 0.53 ± 1.37; p = 0.004 but not IR (0.03 ± 1.33, p = 0.21 groups; there were no significant differences between ID and IR groups (p = 0.34. Adjustment for confounders did not significantly alter these results. In conclusion, women with IDA showed significantly reduced attention compared to women with ID.

  12. 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

  13. Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

    Directory of Open Access Journals (Sweden)

    Alba-Domínguez María

    2012-06-01

    Full Text Available Abstract Background Complement Factor I (CFI is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. Patients and methods We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous, 10 heterozygous and 2 healthy subjects were identified. Clinical, biochemical and genetic descriptions are included. Results Molecular studies demonstrated 4 novel mutations in the screened individuals; amongst them, we describe here the first great gene deletion reported in the CFI locus, which includes full exon 2 and part of the large intron 1. Conclusion CFI deficiency is possibly an underestimated defect and the eventual existence of this deficiency should be tested in those patients exhibiting low C3 and recurrent bacterial infections. We propose a simple diagnostic flowchart to help clinicians in the identification and correct diagnosis of such patients.

  14. Genetics Home Reference: leukocyte adhesion deficiency type 1

    Science.gov (United States)

    ... Home Health Conditions Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency type 1 Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Leukocyte adhesion deficiency type 1 is a disorder that ...

  15. Genetics Home Reference: dopamine beta-hydroxylase deficiency

    Science.gov (United States)

    ... Twitter Home Health Conditions Dopamine beta-hydroxylase deficiency Dopamine beta-hydroxylase deficiency Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Dopamine beta (β)-hydroxylase deficiency is a condition that ...

  16. Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

    Science.gov (United States)

    2017-10-17

    GLUT1DS1; Epilepsy; Glut1 Deficiency Syndrome 1, Autosomal Recessive; Glucose Metabolism Disorders; Glucose Transport Defect; Glucose Transporter Type 1 Deficiency Syndrome; Glucose Transporter Protein Type 1 Deficiency Syndrome

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

    Science.gov (United States)

    ... refractory iron deficiency anemia Iron-refractory iron deficiency anemia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Iron-refractory iron deficiency anemia is one of many types of anemia , which ...

  18. Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice.

    NARCIS (Netherlands)

    Egging, D.F.; Vlijmen-Willems, I van; Choi, J.; Peeters, A.C.T.; Rens, D. van; Veit, G.; Koch, M.; Davis, E.C.; Schalkwijk, J.

    2008-01-01

    Tenascin-X (TNX) is a large, multi-domain, extracellular matrix glycoprotein. Complete deficiency of TNX in humans leads to a recessive form of Ehlers-Danlos syndrome (EDS), and TNX haploinsufficiency is a cause of hypermobility type EDS. EDS patients appear to have a higher risk of several

  19. Self Completeness of Einstein Gravity

    CERN Document Server

    Dvali, Gia

    2010-01-01

    We argue, that in Einsteinian gravity the Planck length is the shortest length of nature, and any attempt of resolving trans-Planckian physics bounces back to macroscopic distances due to black hole formation. In Einstein gravity trans-Planckian propagating quantum degrees of freedom cannot exist, instead they are equivalent to the classical black holes that are fully described by lighter infra-red degrees of freedom and give exponentially-soft contribution into the virtual processes. Based on this property we argue that pure-Einstein (super)gravity and its high-dimensional generalizations are self-complete in deep-UV, but not in standard Wilsonian sense. We suggest that certain strong-coupling limit of string theory is built-in in pure Einstein gravity, whereas the role of weakly-coupled string theory limit is to consistently couple gravity to other particle species, with their number being set by the inverse string coupling. We also discuss some speculative ideas generalizing the notion of non-Wilsonian sel...

  20. Ear recognition: a complete system

    Science.gov (United States)

    Abaza, Ayman; Harrison, Mary Ann F.

    2013-05-01

    Ear Recognition has recently received significant attention in the literature. Even though current ear recognition systems have reached a certain level of maturity, their success is still limited. This paper presents an efficient complete ear-based biometric system that can process five frames/sec; Hence it can be used for surveillance applications. The ear detection is achieved using Haar features arranged in a cascaded Adaboost classifier. The feature extraction is based on dividing the ear image into several blocks from which Local Binary Pattern feature distributions are extracted. These feature distributions are then fused at the feature level to represent the original ear texture in the classification stage. The contribution of this paper is three fold: (i) Applying a new technique for ear feature extraction, and studying various optimization parameters for that technique; (ii) Presenting a practical ear recognition system and a detailed analysis about error propagation in that system; (iii) Studying the occlusion effect of several ear parts. Detailed experiments show that the proposed ear recognition system achieved better performance (94:34%) compared to other shape-based systems as Scale-invariant feature transform (67:92%). The proposed approach can also handle efficiently hair occlusion. Experimental results show that the proposed system can achieve about (78%) rank-1 identification, even in presence of 60% occlusion.

  1. Seventeen Alpha-hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Siew-Lee Wong

    2006-01-01

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

  2. Deficient approaches to human neuroimaging

    Science.gov (United States)

    Stelzer, Johannes; Lohmann, Gabriele; Mueller, Karsten; Buschmann, Tilo; Turner, Robert

    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 on the functional localization of condition- or stimulus-dependent changes in the blood-oxygenation-level dependent signal. In recent years, however, many aspects of the commonly practiced analysis frameworks and methodologies have been critically reassessed. Here we summarize these critiques, providing an overview of the major conceptual and practical deficiencies in widely used brain-mapping approaches, and exemplify some of these issues by the use of imaging data and simulations. In particular, we discuss the inherent pitfalls and shortcomings of methodologies for statistical parametric mapping. Our critique emphasizes recent reports of excessively high numbers of both false positive and false negative findings in fMRI brain mapping. We outline our view regarding the broader scientific implications of these methodological considerations and briefly discuss possible solutions. PMID:25071503

  3. 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.

  4. Prevalence of nutrient deficiencies in bariatric patients.

    Science.gov (United States)

    Toh, Seok Yee; Zarshenas, Nazy; Jorgensen, John

    2009-01-01

    The aims of this study were to determine the prevalence of nutrient deficiencies in patients who present for bariatric surgery, assess nutritional status after surgery, and compare these with preoperative levels. A retrospective study was conducted to identify preoperative and 1-year postoperative nutrition deficiencies in patients undergoing bariatric surgery. The screening included serum ferritin, vitamin D, vitamin B(12), homocysteine, folate, red blood cell folate, and hemoglobin. Results were available for 232 patients preoperatively and 149 patients postoperatively. Two-tailed chi(2) tests and paired-sample t tests were used. Preoperatively, vitamin D deficiency was noted at 57%. The prevalence of abnormalities 1 year after roux-en-Y gastric bypass was higher compared with preoperative levels (P surgery, anemia was detected in 17%, elevated homocysteine levels (women only) in 29%, low ferritin in 15%, low vitamin B(12) in 11%, and low RBC folate in 12%. Mean hemoglobin, ferritin, and RBC folate levels deteriorated significantly but remained well within normal ranges. The prevalence of vitamin D deficiencies decreased, but not significantly. In sleeve gastrectomy patients, mean ferritin levels decreased (P deficiency. Vitamin D deficiency is common among morbidly obese patients seeking bariatric surgery. Because the prevalence of micronutrient deficiencies persists or worsens postoperatively, routine nutrition screening, recommendation of appropriate supplements, and monitoring adherence are imperative in this population.

  5. [Deficiency of surfactant protein: Case report].

    Science.gov (United States)

    Milet, María Beatriz; Mena N, Patricia; Pérez, Héctor I; Espinoza, Tatiana

    Congenital surfactant deficiency is a condition infrequently diagnosed in newborns. A clinical case is presented of surfactant protein B deficiency. A review is performed on the study, treatment and differential diagnosis of surfactant protein deficiencies and infant chronic interstitial lung disease. The case is presented of a term newborn that developed respiratory distress, recurrent pulmonary opacification, and a transient response to the administration of surfactant. Immunohistochemical and genetic studies confirmed the diagnosis of surfactant protein B deficiency. Pulmonary congenital anomalies require a high index of suspicion. Surfactant protein B deficiency is clinically progressive and fatal in the majority of the cases, similar to that of ATP binding cassette subfamily A member 3 (ABCA3) deficiency. Protein C deficiency is insidious and may present with a radiological pulmonary interstitial pattern. Due to the similarity in the histological pattern, genetic studies help to achieve greater certainty in the prognosis and the possibility of providing adequate genetic counselling. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. 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.

  7. Biliary Dysfunction in Children with Iron Deficiency

    Directory of Open Access Journals (Sweden)

    Yu.V. Marushko

    2016-04-01

    Full Text Available Background. Functional disorders of the biliary tract (FDBT remain a topical problem of pediatric gastroenterology due to the high incidence and progressive course with formation of chronic cholecystitis and cholelithiasis in patients. Iron deficiency (ID has a well-known effect on the course of the gastrointestinal tract pathology. With the aim of evaluating the state of the biliary system and clinical features of FDBT associated with ID, a case-control study was conducted in 160 children aged 9 to 17 years, who underwent in-patient treatment for exacerbation of biliary tract pathology. According to the iron metabolism tests, children were divided into 3 groups: I — 29 children with FDBT and I degree anemia; II — 91 children with FDBT and latent ID; III — 40 children with FDBT and normal iron metabolism parameters. Research methods included: the study of anamnesis, clinical examination, complete blood count, serum iron level, total iron-binding capacity, calculation of percent transferrin saturation, ultrasound of the abdominal organs and dynamic ultrasound cholecystography with choleretic breakfast. Results. The study found that children with FDBT and ID have a higher incidence of FDBT exacerbations, increased intensity of dyspeptic and asthenovegetative symptoms in case of FDBT exacerbation, increase in size, reduced contractile function of gallbladder (GB and hypotonic-hypokinetic FDBT type. Conclusions. Children with FDBT and ID have burdened course of FDBT due to the high incidence of exacerbations, severe dyspeptic and asthenovegetative symptoms in the acute phase, as well as reduced contractile function of GB and hypotonic-hypokinetic FDBT type, which is clinically unfavorable because of the risk of biliary sludge and cholelithiasis.

  8. Growth hormone deficiency in children and young adults

    Directory of Open Access Journals (Sweden)

    Joanna Oświęcimska

    2016-09-01

    Full Text Available Growth hormone (GH is a naturally occurring polypeptide hormone produced by somatotropic cells in the anterior pituitary. The main function of somatotropin is stimulation of linear growth, but it also affects carbohydrate metabolism, increases bone mass and has potent lipolytic, antinatriuretic and antidiuretic effects. Growth hormone deficiency (GHD may occur both in children and in adults. At the moment there is no gold standard for the diagnosis of GHD, and the diagnosis should take into account clinical, auxological, biochemical and radiological changes and, if necessary, genetic testing. Recent studies have highlighted that the biochemical diagnosis of GH deficiency is still imperfect. Stimuli used in the tests are non-physiological, and various substances are characterized by a different mechanism of action and potency. A few years ago it was thought that GHD treatment in children must be completed at the end of linear growth. Studies performed in the last two decades have shown that GHD deficiency in adults may result in complex clinical problems, and if untreated shortens the life expectancy and worsens its comfort. Discontinuation of GH therapy after the final height has been reached in fact negatively impacts the physiological processes associated with the transition phase, which is the period of human life between achieving the final height and 25-30 years of age. Given the adverse metabolic effects of GH treatment interruption after linear growth has been completed, the latest recommendations propose reassessment of GH secretion in the period at least one month after cessation of treatment and continuation of the therapy in case of persistent deficit.

  9. Copper Deficiency Myelopathy After Upper Gastrointestinal Surgery.

    Science.gov (United States)

    King, Dominic; Siau, Keith; Senthil, Latha; Kane, Katherine F; Cooper, Sheldon C

    2017-06-01

    A well-functioning alimentary canal is required for adequate nutrient absorption. Disruption to the upper gastrointestinal tract through surgery can lead to micronutrient malnourishment. Copper deficiency has been noted in up to 10% of those undergoing Roux-en-Y gastric bypass surgery, but sequalae are not frequently reported. The resultant deficiency states can have profound and long-term consequences if not realized early and managed appropriately. Here we present a case of copper deficiency myelopathy, a condition indistinguishable from subacute combined degeneration of the spinal cord, following upper gastrointestinal bypass surgery for gastric ulceration, further complicated by inadequate nutrition.

  10. 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...

  11. An uncommon presentation of hexosaminidase deficiency

    Directory of Open Access Journals (Sweden)

    Iype Mary

    2006-01-01

    Full Text Available Focal muscular atrophy (FMA can occur due to several causes. We report three cases of FMA associated with deficiency of hexosaminidase A. The serum level of hexosaminidase A was assayed in seven patients with FMA without any definite aetiology identified over a period of two years. Three cases of FMA showed deficiency of hexosaminidase A. All these patients had clinical features of isolated lower motor neurone involvement in one limb without any evidence of involvement of the rest of the neuraxis. Detailed laboratory tests were negative. Electromyography confirmed neurogenic involvement without any evidence of radiculopathy or neuropathy. Hexosaminidase deficiency as a possible association for FMA is highlighted.

  12. 1Restoration of ATM expression in DNA-PKcs deficient cells inhibits signal end joining

    Science.gov (United States)

    Neal, Jessica A.; Xu, Yao; Abe, Masumi; Hendrickson, Eric; Meek, Katheryn

    2016-01-01

    Unlike most DNA-PKcs deficient mouse cell strains, we show here that targeted deletion of DNA-PKcs in two different human cell lines abrogates VDJ signal end joining in episomal assays. Although the mechanism is not well defined, DNA-PKcs deficiency results in spontaneous reduction of ATM expression in many cultured cell lines (including those studied here) and in DNA-PKcs deficient mice. We considered that varying loss of ATM expression might explain differences in signal end joining in different cell strains and animal models, and we investigated the impact of ATM and/or DNA-PKcs loss on VDJ recombination in cultured human and rodent cell strains. To our surprise, in DNA-PKcs deficient mouse cell strains that are proficient in signal end joining, restoration of ATM expression markedly inhibits signal end joining. In contrast, in DNA-PKcs deficient cells that are deficient in signal end joining, complete loss of ATM enhances signal (but not coding) joint formation. We propose that ATM facilitates restriction of signal ends to the “classical” non-homologous end-joining pathway. PMID:26921311

  13. Obesity, bariatric surgery, and iron deficiency: true, true, true and related.

    Science.gov (United States)

    Love, Aileen L; Billett, Henny H

    2008-05-01

    Morbid obesity is a health problem that has been shown to be refractory to diet, exercise, and medical treatment. Surgeries designed to promote weight loss, termed bariatric surgery and typically involving a gastric bypass procedure, have recently been implemented to treat obesity with high success rates. However, long-term sequelae can result in micronutrient deficiencies. This review will focus on iron deficiency and its association with obesity and bariatric surgery. Iron deficiency develops after gastric bypass for several reasons including intolerance for red meat, diminished gastric acid secretion, and exclusion of the duodenum from the alimentary tract. Menstruating women, pregnant women, and adolescents may be particularly predisposed toward developing iron deficiency and microcytic anemias after bypass surgery. Preoperative assessment of patients should include a complete hematological work-up, including measurement of iron stores. Postoperatively, oral iron prophylaxis and vitamin C in addition to a multivitamin should be prescribed for bypass patients, especially for vulnerable populations. Once iron deficiency has developed, it may prove refractory to oral treatment, and require parenteral iron, blood transfusions, or surgical interventions. Bariatric surgery patients require lifelong follow-up of hematological and iron parameters since iron deficiency and anemia may develop years after surgery. Copyright 2008 Wiley-Liss, Inc.

  14. Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

    Science.gov (United States)

    Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

    2017-06-01

    In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

  15. Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony.

    Science.gov (United States)

    Carlstrom, Lucas P; Jens, Jackie K; Dobyns, Marley E; Passage, Merry; Dickson, Patricia I; Ellinwood, N Matthew

    2009-08-01

    Issues of cost and genetics can result in inbreeding of canine genetic disease colonies. Beagles often are used to maintain such colonies, providing stock for outcrosses. Factor VII (FVII) deficiency is a hemostatic disorder found at increased frequency in beagles and has been characterized at the DNA level. Deficiency of FVII presents obstacles in colonies founded with beagles. An initial finding of a FVII-deficient pup from a longstanding colony prompted us to evaluate FVII deficiency fully in this colony. Current and archival records and tissues were used to reconstruct the colony pedigree, assess the contribution from beagles, and test samples to document the source and frequency of the mutant FVII allele. As part of this study we developed a PCR-based diagnostic assay that was simpler than what was previously available. Pedigree analysis revealed a founder effect implicating beagles that led to high frequency (55%) of the mutant allele. In addition, affected animals were identified. The complete picture of the clinical effect within the colony remains unclear, but unusual neonatal presentations, including hemoabdomen, have occurred in pups affected with FVII deficiency. Use of a PCR-based diagnostic assay to screen all potential beagle breeding stock will prevent similar occurrences of FVII deficiency in future canine research colonies.

  16. Completely Described Undirected Graph Structure

    Directory of Open Access Journals (Sweden)

    G. S. Ivanova

    2016-01-01

    Full Text Available The objects of research are undirected graphs. The paper considers a problem of their isomorphism. A literature analysis of its solution, has shown that there is no way to define a complete graph invariant in the form of unique structural characteristics of each its vertex, which has a computational complexity of definition better than О (n 4 .The work objective is to provide the characteristics of the graph structure, which could be used to solve the problem of their isomorphism for a time better than О (n 4 . As such characteristics, the paper proposes to use the set of codes of tree roots of all the shortest - in terms of the number of edges - paths from each vertex to the others, uniquely defining the structure of each tree. It proves the theorem that it is possible to reduce the problem of isomorphism of the undirected graphs to the isomorphism problem of their splitting into the trees of all the shortest - in terms of the number of edges - paths of each vertex to the others. An algorithm to construct the shortest paths from each vertex to all others and to compute codes of their vertices has been developed. As the latter, are used Aho-codes, which find application in recognising the isomorphism of trees. The computational complexity to obtain structural characteristics of vertices has been estimated to be about О (n 3 .The pilot studies involved the full-scale experiment using the developed complex programmes to generate raw data, i.e. analytic representation of the graph with the number of vertices equal to 1200, and a programme to provide codes of the tree roots. To have an estimate of - "the worst" in terms of time - complexity of expansion algorithm of graphs into trees of the shortest paths and define the codes of their roots has been an experimentally studied how the number of tree vertices depends on the graph density. For the worst case was obtained a dependence of the number of tree vertices on the number of graph vertices

  17. Prenatal diagnosis in adenylosuccinate lyase deficiency

    NARCIS (Netherlands)

    Marie, S.; Flipsen, J. W.; Duran, M.; Poll-The, B. T.; Beemer, F. A.; Bosschaart, A. N.; Vincent, M. F.; van den Berghe, G.

    2000-01-01

    Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe

  18. Genetics Home Reference: guanidinoacetate methyltransferase deficiency

    Science.gov (United States)

    ... movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  19. LACTASE DEFICIENCY IN BABIES AND INFANTS

    Directory of Open Access Journals (Sweden)

    E.A. Kornienko

    2006-01-01

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

  20. Patient reported outcome in posttraumatic pituitary deficiency

    DEFF Research Database (Denmark)

    Klose, Marianne; Stochholm, Kirstine; Janukonyté, Jurgita

    2015-01-01

    . RESULTS: Patients with TBI had significant detriments in QoL. Impairment (mainly physical scales) related to pituitary deficiency, although only partially confirmed after adjustment for demographic differences. Hypogonadotropic hypogonadism related to several QoL scores. Increasing impairments were...

  1. Genetics Home Reference: complement factor I deficiency

    Science.gov (United States)

    ... I deficiency: evaluation of three generations of a Brazilian family. Clin Exp Immunol. 2006 Feb;143(2): ... should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map ...

  2. Growth hormone deficiency and hyperthermia during exercise

    DEFF Research Database (Denmark)

    Juul, A; Hjortskov, N; Jepsen, Leif

    1995-01-01

    levels [11 with multiple pituitary deficiency (MPD) and 5 with isolated GH deficiency] and in 10 healthy subjects as controls (CTs). Each subject exercised on a bicycle ergometer for 60 min at a workload corresponding to 45% of their individual maximal oxygen consumption (VO2max), in a room maintained......-deficiency may be at risk for developing hyperthermia. To pursue this, we performed a controlled study on sweating and body temperature regulation during exercise in the heat in 16 GH-treated GH-deficient patients with normalized insulin-like growth factor-I and insulin-like growth factor/binding protein-3 serum...... at 35 C. GH serum concentrations increased significantly after approximately 10 min of exercise in the CTs (P

  3. Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency

    Science.gov (United States)

    ... Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. Mol Genet Metab. 2013 May;109(1):28- ...

  4. Genetics Home Reference: eosinophil peroxidase deficiency

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... EPXD peroxidase and phospholipid deficiency in eosinophils Presentey anomaly Related Information How are genetic conditions and genes ...

  5. Genetics Home Reference: carnitine palmitoyltransferase I deficiency

    Science.gov (United States)

    ... SL, Raff ML. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  6. Genetics Home Reference: beta-ureidopropionase deficiency

    Science.gov (United States)

    ... AB. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  7. Genetics Home Reference: beta-ketothiolase deficiency

    Science.gov (United States)

    ... The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  8. Iron deficiency anemia refractory to iron preparations.

    Science.gov (United States)

    Suzuki, Takahiro

    2016-01-01

    Most patients with iron deficiency anemia are treated effectively with oral iron preparations. However, a small number of these patients are refractory to such treatments, even when the pathologic condition underlying the anemia is concurrently treated. The pathological basis for this refractoriness can be explained by several factors, including malabsorption of iron, e.g. atrophic gastritis, deficiency of other hematopoietic vitamins or minerals, e.g. vitamin B12 or zinc, other undiagnosed anemic disorders, e.g. renal anemia or hematopoietic diseases, as well as certain hereditary disorders of iron metabolism, e.g. iron refractory iron deficiency anemia (IRIDA) caused by genetic mutation of the TMPRSS6 gene. This review focuses on the diagnosis and pathoetiology of iron deficiency anemia that is refractory to conventional oral iron preparations.

  9. Historical aspects of iodine deficiency control.

    Science.gov (United States)

    Vanderpas, Jean-Baptiste; Moreno-Reyes, Rodrigo

    2017-04-01

    In 1895, iodine was characterized as an essential element of thyroid tissue by Baumann. The efficacy of iodine to prevent goiter was demonstrated by Marine in Northern USA in 1916-1920. Severe endemic goiter and cretinism had been almost entirely eliminated from continental Western Europe and Northern America before the 1930's; however large populations elsewhere and even some places in Western Europe (Sicily) were still affected up to the 2000's. Public health consequences of iodine deficiency are not limited to endemic goiter and cretinism. Iodine deficiency disorders include also increased neonatal death rate and decreased intellectual development, although these consequences are not included in the current estimation of the Global Burden Disease related to iodine deficiency. Severe iodine deficiency as a public health problem is now largely under control worldwide, but can still affect isolated places, in hard-to-reach and/or politically neglected populations. We emphasize the importance of maintaining international cooperation efforts, in order to monitor iodine status where iodine deficiency is now adequately controlled, and identify at-risk population where it is not. The goal should be now global eradication of severe iodine deficiency. Commercial distribution of iodized salt remains the most appropriate strategy. A randomized clinical trial in New Guinea clearly showed in the 1970's that correcting severe iodine deficiency early in pregnancy prevents endemic neurological cretinism. This supports the essential role of thyroid hormones of maternal origin on the normal fetal development, during the first trimester of pregnancy (i.e. when fetal thyroid is still not functional). A randomized clinical trial in Congo (RD) in the 1970's also showed that correcting severe iodine deficiency during pregnancy prevents myxœdematous cretinism, particularly prevalent in affected Congolese areas.

  10. Study of neutron-deficient Sn isotopes

    International Nuclear Information System (INIS)

    Auger, G.

    1982-05-01

    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 106 Sn, high spin states in 107 Sn and 107 In; Yrast levels of 106 Sn, 107 Sn, 108 Sn; study of neutron deficient Sn and In isotopes formed by the desintegration of the compound nucleus 112 Xe. All these results are discussed [fr

  11. IgA deficiency and autoimmunity.

    Science.gov (United States)

    Singh, Karmtej; Chang, Christopher; Gershwin, M Eric

    2014-02-01

    IgA is the most abundant immunoglobulin in the human body, and performs a very specialized role which involves mucosal immunity, development of tolerance and protection against infection. IgA is the key immunoglobulin in the respiratory and gastrointestinal tracts, which provide the most intimate interface between the environment and self. Normal levels of IgA are based on early studies consisting of only small numbers of patients. The international consensus definition of IgA deficiency is a level of 0.07g/l after the age of four years in the absence of IgG and IgM deficiencies. The epidemiology of IgA deficiency reveals interesting variances between geographical regions - the incidence in Caucasians being much higher than that in Asians. IgA deficiency has also been found to co-exist with autoimmune diseases, allergies and malignancies. The association with autoimmunity is particularly interesting because it suggests a common genetic linkage that could potentially also explain the diversity in geoepidemiology. Both MHC and non-MHC associations have been described and the 8.1 haplotype has been significantly associated with autoimmunity in IgA deficiency patients over controls. Non-MHC genetic associations include IFIH1 and CLEC16A. The mutations leading to IgA deficiency have not been defined, but in some cases of IgA deficiency it has been suggested that the pathogenesis involves a failure in switched memory B cells that can lead to this cohort experiencing an increased incidence of recurrent bacterial infections or autoimmune diseases. Attempts to investigate the role of cytokines that can induce IgA synthesis in cells of patients with IgA deficiency, such as IL21 or the combination of CD40L/anti-CD40, IL-4 and IL10, are underway. © 2013.

  12. An Approach to Iron-Deficiency Anemia

    OpenAIRE

    Rasul, Imran; Kandel, Gabor P

    2001-01-01

    Iron-deficiency anemia is a common reason for referral to a gastroenterologist. In adult men and postmenopausal women, gastrointestinal tract pathology is often the cause of iron-deficiency anemia, so patients are frequently referred for endoscopic evaluation. Endoscopy may be costly and at times difficult for the patient. Therefore, physicians need to know what lesions can be identified reliably and, more importantly, the importance of ruling out life-threatening conditions such as occult ma...

  13. Iron deficiency and anemia in heart failure.

    Science.gov (United States)

    Çavuşoğlu, Yüksel; Altay, Hakan; Çetiner, Mustafa; Güvenç, Tolga Sinan; Temizhan, Ahmet; Ural, Dilek; Yeşilbursa, Dilek; Yıldırım, Nesligül; Yılmaz, Mehmet Birhan

    2017-03-01

    Heart failure is an important community health problem. Prevalence and incidence of heart failure have continued to rise over the years. Despite recent advances in heart failure therapy, prognosis is still poor, rehospitalization rate is very high, and quality of life is worse. Co-morbidities in heart failure have negative impact on clinical course of the disease, further impair prognosis, and add difficulties to treatment of clinical picture. Therefore, successful management of co-morbidities is strongly recommended in addition to conventional therapy for heart failure. One of the most common co-morbidities in heart failure is presence of iron deficiency and anemia. Current evidence suggests that iron deficiency and anemia are more prevalent in patients with heart failure and reduced ejection fraction, as well as those with heart failure and preserved ejection fraction. Moreover, iron deficiency and anemia are referred to as independent predictors for poor prognosis in heart failure. There is strong relationship between iron deficiency or anemia and severity of clinical status of heart failure. Over the last two decades, many clinical investigations have been conducted on clinical effectiveness of treatment of iron deficiency or anemia with oral iron, intravenous iron, and erythropoietin therapies. Studies with oral iron and erythropoietin therapies did not provide any clinical benefit and, in fact, these therapies have been shown to be associated with increase in adverse clinical outcomes. However, clinical trials in patients with iron deficiency in the presence or absence of anemia have demonstrated considerable clinical benefits of intravenous iron therapy, and based on these positive outcomes, iron deficiency has become target of therapy in management of heart failure. The present report assesses current approaches to iron deficiency and anemia in heart failure in light of recent evidence.

  14. An uncommon presentation of hexosaminidase deficiency

    OpenAIRE

    Iype Mary; Jyothy Prabhakar; Sudhakaran P; Narayanan Noel; PAM Kunju

    2006-01-01

    Focal muscular atrophy (FMA) can occur due to several causes. We report three cases of FMA associated with deficiency of hexosaminidase A. The serum level of hexosaminidase A was assayed in seven patients with FMA without any definite aetiology identified over a period of two years. Three cases of FMA showed deficiency of hexosaminidase A. All these patients had clinical features of isolated lower motor neurone involvement in one limb without any evidence of involvement of the rest of the neu...

  15. Micronutrient Deficiency Conditions: Global Health Issues

    Directory of Open Access Journals (Sweden)

    Tulchinsky Theodore H

    2010-07-01

    Full Text Available Micronutrient deficiency conditions are widespread among 2 billion people in developing and in developed countries. These are silent epidemics of vitamin and mineral deficiencies affecting people of all genders and ages, as well as certain risk groups. They not only cause specific diseases, but they act as exacerbating factors in infectious and chronic diseases, greatly impacting morbidity, mortality, and quality of life. Deficiencies in some groups of people at special risk require supplementation, but the most effective way to meet community health needs safely is by population based approaches involving food fortification. These complementary methods, along with food security, education, and monitoring, are challenges for public health and for clinical medicine. Micronutrient deficiency conditions relate to many chronic diseases, such as osteoporosis osteomalacia, thyroid deficiency colorectal cancer and cardiovascular diseases. Fortification has a nearly century long record of success and safety, proven effective for prevention of specific diseases, including birth defects. They increase the severity of infectious diseases, such as measles, HIV/AIDS and tuberculosis. Understanding the pathophysiology and epidemiology of micronutrient deficiencies, and implementing successful methods of prevention, both play a key part in the New Public Health as discussed in this section, citing the examples of folic acid, vitamin B12, and vitamin D.

  16. How common is vitamin B-12 deficiency?

    Science.gov (United States)

    Allen, Lindsay H

    2009-02-01

    In considering the vitamin B-12 fortification of flour, it is important to know who is at risk of vitamin B-12 deficiency and whether those individuals would benefit from flour fortification. This article reviews current knowledge of the prevalence and causes of vitamin B-12 deficiency and considers whether fortification would improve the status of deficient subgroups of the population. In large surveys in the United States and the United Kingdom, approximately 6% of those aged > or =60 y are vitamin B-12 deficient (plasma vitamin B-12 life. In developing countries, deficiency is much more common, starting in early life and persisting across the life span. Inadequate intake, due to low consumption of animal-source foods, is the main cause of low serum vitamin B-12 in younger adults and likely the main cause in poor populations worldwide; in most studies, serum vitamin B-12 concentration is correlated with intake of this vitamin. In older persons, food-bound cobalamin malabsorption becomes the predominant cause of deficiency, at least in part due to gastric atrophy, but it is likely that most elderly can absorb the vitamin from fortified food. Fortification of flour with vitamin B-12 is likely to improve the status of most persons with low stores of this vitamin. However, intervention studies are still needed to assess efficacy and functional benefits of increasing intake of the amounts likely to be consumed in flour, including in elderly persons with varying degrees of gastric atrophy.

  17. Dietary phytate, zinc and hidden zinc deficiency.

    Science.gov (United States)

    Sandstead, Harold H; Freeland-Graves, Jeanne H

    2014-10-01

    Epidemiological data suggest at least one in five humans are at risk of zinc deficiency. This is in large part because the phytate in cereals and legumes has not been removed during food preparation. Phytate, a potent indigestible ligand for zinc prevents it's absorption. Without knowledge of the frequency of consumption of foods rich in phytate, and foods rich in bioavailable zinc, the recognition of zinc deficiency early in the illness may be difficult. Plasma zinc is insensitive to early zinc deficiency. Serum ferritin concentration≤20μg/L is a potential indirect biomarker. Early effects of zinc deficiency are chemical, functional and may be "hidden". The clinical problem is illustrated by 2 studies that involved US Mexican-American children, and US premenopausal women. The children were consuming home diets that included traditional foods high in phytate. The premenopausal women were not eating red meat on a regular basis, and their consumption of phytate was mainly from bran breakfast cereals. In both studies the presence of zinc deficiency was proven by functional responses to controlled zinc treatment. In the children lean-mass, reasoning, and immunity were significantly affected. In the women memory, reasoning, and eye-hand coordination were significantly affected. A screening self-administered food frequency questionnaire for office might help caregiver's identify patients at risk of zinc deficiency. Copyright © 2014 Elsevier GmbH. All rights reserved.

  18. [Ensure - complete and balanced nutrition, convenient on work].

    Science.gov (United States)

    Kurenkov, A V; Iuriatin, A A

    2013-01-01

    The work conditions often may compromise a company ability to supply their employees with adequate, hot meals. For heavy labor workers and some office employees it is important to restore energy and nutrients with food, balanced in nutrients. The lack of adequate nutritive support can give a negative impact on different organs functions. One of the main principles of healthy nutrition is - diet must be balanced in nutrients. Which is easy to say, but difficult to implement, especially on some industries. Complete and balanced liquid and ready-to-use nutrition is new trend in nutrition of healthy people who cannot consume optimal diet, and in people with the risk of nutrient deficiencies. One-two packs of Ensure daily can significantly improve a worker ration. 2 and more packs could serve as a real complete and balanced lunch (>or=780 kcal). Also Ensure is easy to store and to deliver in distant places of work and can be recommended for use as a convenient, complete and balanced nutrition on work.

  19. Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

    Directory of Open Access Journals (Sweden)

    Anna-Kaisa Niemi

    2014-01-01

    Full Text Available The pathophysiology of succinic semialdehyde dehydrogenase (SSADH deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH deficiency in whom we found low levels of blood reduced glutathione (GSH, and elevations of dicarboxylic acids in urine, suggestive of possible redox imbalance and/or mitochondrial dysfunction. Thus, targeting the oxidative stress axis may be a potential therapeutic approach if our findings are confirmed in other patients.

  20. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency

    DEFF Research Database (Denmark)

    Rodrigues, Rute; Artieda, Marta; Tejedor, Diego

    2016-01-01

    BACKGROUND: Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight...... into the deleterious effect of the mutations is clinically essential. METHODS: We used gene sequencing followed by in-vivo/in-vitro and in-silico tools for classification. We classified 125 rare LPL mutations in 33 subjects thought to have LPL deficiency and in 314 subjects selected for very SHTG. RESULTS: Of the 33...