XIII International Workshop on Hadron Physics

CERN Document Server

2015-01-01

The XIII International Workshop on Hadron Physics, XIII Hadron Physics, is intended for graduate students, postdocs and researchers in Hadronic Physics, High Energy Physics, Astrophysics and Effective Field Theories, who wish to improve their theoretical background, learn about recent experimental results and develop collaboration projects. The series Hadron Physics, in activity since 1988, has the format of an advanced school and has the objective to introduce, in a series of pedagogical lectures, new lines of research in Strong Interaction Physics, mainly concerned with QCD. It envisages also to stimulate collaborations in international level.

Genetics Home Reference: factor VII deficiency

Science.gov (United States)

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

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

Science.gov (United States)

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

Factor XII (Hageman factor) deficiency

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/000545.htm Factor XII (Hageman factor) deficiency To use the sharing features on this ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

Relative effects of plasma, fibrinogen concentrate, and factor XIII on ROTEM coagulation profiles in an in vitro model of massive transfusion in trauma.

Science.gov (United States)

Schmidt, David E; Halmin, Märit; Wikman, Agneta; Östlund, Anders; Ågren, Anna

2017-10-01

Massive traumatic haemorrhage is aggravated through the development of trauma-induced coagulopathy, which is managed by plasma transfusion and/or fibrinogen concentrate administration. It is yet unclear whether these treatments are equally potent in ensuring adequate haemostasis, and whether additional factor XIII (FXIII) administration provides further benefits. In this study, we compared ROTEM whole blood coagulation profiles after experimental massive transfusion with different transfusion regimens in an in vitro model of dilution- and transfusion-related coagulopathy. Healthy donor blood was mixed 1 + 1 with six different transfusion regimens. Each regimen contained RBC, platelet concentrate, and either fresh frozen plasma (FFP) or Ringer's acetate (RA). The regimens were further augmented through addition of a low- or medium-dose fibrinogen concentrate and FXIII. Transfusion with FFP alone was insufficient to maintain tissue-factor activated clot strength, coincidental with a deficiency in fibrin-based clot strength. Fibrinogen concentrate conserved, but did not improve coagulation kinetics and overall clot strength. Only combination therapy with FFP and low-dose fibrinogen concentrate improved both coagulation kinetics and fibrin-based clot strength. Administration of FXIII did not result in an improvement of clot strength. In conclusion, combination therapy with both FFP and low-dose fibrinogen concentrate improved clotting time and produced firm clots, representing a possible preferred first-line regimen to manage trauma-induced coagulopathy when RBC and platelets are also transfused. Further research is required to identify optimal first-line transfusion fluids for massive traumatic haemorrhage.

Factor V deficiency

Science.gov (United States)

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

Factor II deficiency

Science.gov (United States)

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

Factor X deficiency

Science.gov (United States)

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

Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency.

Science.gov (United States)

Deshpande, Rutuja; Ghosh, Kanjaksha; Shetty, Shrimati

2017-01-01

Congenital combined deficiency of coagulation factors VII and X are mainly attributed to large deletions involving both the genes in chromosome 13 or occasionally due to the coincidental occurrence of independently occurring mutations. We report the molecular basis of congenital combined deficiency of factors VII and X in a 6-year-old female child. Direct DNA sequencing of both factor VII (F7) and factor X (F10) genes showed a novel homozygous missense mutation p.Cys90Tyr (c.307G>A) in exon 4 of F10. No mutations were detected in F7; however, the patient was homozygous for three polymorphic alleles known to be associated with reduced factor VII levels. The present case illustrates the synergistic effect of multiple polymorphisms resulting in phenotypic factor VII deficiency in the absence of a pathogenic mutation.

Deficiency of the Chemotactic Factor Inactivator in Human Sera with α1-Antitrypsin Deficiency

Science.gov (United States)

Ward, Peter A.; Talamo, Richard C.

1973-01-01

As revealed by appropriate fractionation procedures, human serum deficient in α1-antitrypsin (α1-AT) is also deficient in the naturally occurring chemotactic factor inactivator. These serum donors had severe pulmonary emphysema. Serum from patients with clinically similar pulmonary disease, but with presence of α1-AT in the serum, showed no such deficiency of the chemotactic factor inactivator. When normal human serum and α1-AT-deficient human sera are chemotactically activated by incubation with immune precipitates, substantially more chemotactic activity is generated in α1-AT-deficient serum. These data indicate that in α1-AT-deficient serum there is an imbalance in the generation and control of chemotactic factors. It is suggested that the theory regarding development of pulmonary emphysema in patients lacking the α1-antitrypsin in their serum should be modified to take into account a deficiency of the chemotactic factor inactivator. PMID:4683887

Classical elements in the endowments of Serbian XIII century donors

OpenAIRE

Gligorijević-Maksimović Mirjana

2009-01-01

In Byzantine painting, starting from the XIII and particularly during the XIV century, there was a visible return to models from the period of Antiquity. The influences of ancient, ostensibly, Hellenistic heritage were reflected in the shapes, in the content of the compositions, as well as in the drawing, modellation and colours. In the art that came into being in the course of the XIII century, in the endowments of the Serbian donors numerous elements emerged that had existed in ancient art....

21 CFR 864.7290 - Factor deficiency test.

Science.gov (United States)

2010-04-01

... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Factor deficiency test. 864.7290 Section 864.7290 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7290 Factor deficiency...

40 CFR Appendix Xiii to Part 266 - Mercury Bearing Wastes That May Be Processed in Exempt Mercury Recovery Units

Science.gov (United States)

2010-07-01

... 40 Protection of Environment 26 2010-07-01 2010-07-01 false Mercury Bearing Wastes That May Be Processed in Exempt Mercury Recovery Units XIII Appendix XIII to Part 266 Protection of Environment... XIII to Part 266—Mercury Bearing Wastes That May Be Processed in Exempt Mercury Recovery Units These...

Recombinant factor VIIa treatment for asymptomatic factor VII deficient patients going through major surgery.

Science.gov (United States)

Livnat, Tami; Shenkman, Boris; Spectre, Galia; Tamarin, Ilia; Dardik, Rima; Israeli, Amnon; Rivkind, Avraham; Shabtai, Moshe; Marinowitz, Uri; Salomon, Ophira

2012-07-01

Factor VII deficiency is the most common among the rare autosomal recessive coagulation disorders worldwide. In factor VII deficient patients, the severity and clinical manifestations cannot be reliably determined by factor VII levels. Severe bleeding tends to occur in individuals with factor VII activity levels of 2% or less of normal. Patients with 2-10% factor VII vary between asymptomatic to severe life threatening haemorrhages behaviour. Recombinant factor VIIa (rFVIIa) is the most common replacement therapy for congenital factor VII deficiency. However, unlike haemophilia patients for whom treatment protocols are straight forward, in asymptomatic factor VII deficiency patients it is still debatable. In this study, we demonstrate that a single and very low dose of recombinant factor VIIa enabled asymptomatic patients with factor VII deficiency to go through major surgery safely. This suggestion was also supported by thrombin generation, as well as by thromboelastometry.

Factor VII deficiency: a single-center experience.

Science.gov (United States)

Salcioglu, Zafer; Akcay, Arzu; Sen, Hulya Sayilan; Aydogan, Gonul; Akici, Ferhan; Tugcu, Deniz; Ayaz, Nuray Aktay; Baslar, Zafer

2012-11-01

Congenital factor VII deficiency is the most common form of rare coagulation factor deficiencies. This article presents a retrospective evaluation of 73 factor VII deficiency cases that had been followed at our center. The study consisted of 48 males and 25 females (2 months-19 years). Thirty-one (42.5%) of them were asymptomatic. Out of symptomatic patients, 17 had severe clinical symptoms, whereas 8 presented with moderate and 17 with mild symptoms. The symptoms listed in order of frequency were as follows: epistaxis, petechia or ecchymose, easy bruising, and oral cavity bleeding. The genotype was determined in 8 patients. Recombinant activated factor VII (rFVIIa) was used to treat 49 bleeding episodes in 8 patients after 2002. In 2 patients with repeated central nervous system bleeding prophylaxis with rFVIIa was administered. No allergic and thrombotic events were observed during both treatment and prophylaxis courses. Antibody occurrence was not detected in the patients during treatment.

Acquired factor VII deficiency associated with acute myeloid leukemia.

Science.gov (United States)

Anoun, Soumaya; Lamchahab, Mouna; Oukkache, Bouchra; Qachouh, Maryam; Benchekroun, Said; Quessar, Asmaa

2015-04-01

Isolated acquired factor VII deficiency is a rare coagulopathy. It has been reported in 31 patients with malignancy, sepsis, postoperatively, aplastic anemia, and during bone marrow transplantation. We discuss, through a new case of acquired factor VII deficiency, the characteristics of this disease when it is associated with acute myeloid leukemia. Acquired factor VII deficiency in hematological diseases can be caused by intensive chemotherapy, infections, or hepatic dysfunction. The best treatment in developing countries remains corticosteroids associated with plasma exchange, frozen plasma, and antibiotics.

Characterization of carbonic anhydrase XIII in the erythrocytes of the Burmese python, Python molurus bivittatus.

Science.gov (United States)

Esbaugh, A J; Secor, S M; Grosell, M

2015-09-01

Carbonic anhydrase (CA) is one of the most abundant proteins found in vertebrate erythrocytes with the majority of species expressing a low activity CA I and high activity CA II. However, several phylogenetic gaps remain in our understanding of the expansion of cytoplasmic CA in vertebrate erythrocytes. In particular, very little is known about isoforms from reptiles. The current study sought to characterize the erythrocyte isoforms from two squamate species, Python molurus and Nerodia rhombifer, which was combined with information from recent genome projects to address this important phylogenetic gap. Obtained sequences grouped closely with CA XIII in phylogenetic analyses. CA II mRNA transcripts were also found in erythrocytes, but found at less than half the levels of CA XIII. Structural analysis suggested similar biochemical activity as the respective mammalian isoforms, with CA XIII being a low activity isoform. Biochemical characterization verified that the majority of CA activity in the erythrocytes was due to a high activity CA II-like isoform; however, titration with copper supported the presence of two CA pools. The CA II-like pool accounted for 90 % of the total activity. To assess potential disparate roles of these isoforms a feeding stress was used to up-regulate CO2 excretion pathways. Significant up-regulation of CA II and the anion exchanger was observed; CA XIII was strongly down-regulated. While these results do not provide insight into the role of CA XIII in the erythrocytes, they do suggest that the presence of two isoforms is not simply a case of physiological redundancy. Copyright © 2015. Published by Elsevier Inc.

Japanese family with congenital factor VII deficiency.

Science.gov (United States)

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

2015-10-01

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

First living-related liver transplant to cure factor VII deficiency.

Science.gov (United States)

Mohan, Neelam; Karkra, Sakshi; Jolly, Anu S; Vohra, Vijay; Mohanka, Ravi; Rastogi, Amit; Soin, A S

2015-09-01

Congenital factor VII deficiency is an autosomal recessive serious disorder of blood coagulation with wide genotypic and phenotypic variations. The clinical presentation can vary from asymptomatic patients to patients with major bleedings in severe deficiency (factor VII factor VII. Treatment modalities include FFP and repeated recombinant factor VII infusions. We hereby report the first successful LRLT for factor VII deficiency in an infant, the first-ever youngest baby reported worldwide. A six-month-old male child presented with easy bruisability, ecchymotic patches, hematuria, and convulsions. CT of the head showed subdural hemorrhage, which was treated conservatively. He had markedly increased PT (120 s) with normal platelets, and aPTT with factor VII level factor VII level was 57%. A factor VII infusion plan for pre-, intra- and postoperative periods was formulated and TEG followed. Postoperatively, his factor VII started increasing from third day and was 38% on 24th day with PT factor VII deficiency. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Is zinc deficiency a risk factor for atherosclerosis?

Science.gov (United States)

Beattie, John H; Kwun, In-Sook

2004-02-01

The development of atherosclerosis is influenced by genetic, lifestyle and nutritional risk factors. Zn and metallothionein deficiency can enhance oxidative-stress-related signalling processes in endothelial cells, and since changes in available plasma Zn may affect the Zn status of the endothelium, Zn deficiency could be a risk factor for IHD. Although the association of Zn with many proteins is essential for their function, three key signalling processes are highlighted as being principal targets for the effect of Zn deficiency: the activation of NF-kappaB, the activation of caspase enzymes and the signalling of NO. The need to develop a reliable indicator of Zn status is critical to any epidemiological approach for studying the relationship between Zn status and disease incidence. Studies using appropriate animal models and investigating how the plasma Zn pool influences endothelial intracellular labile Zn would be helpful in appreciating the importance of Zn deficiency in atherogenesis.

León XIII y la memoria de un catolicismo que «nació libre»

Directory of Open Access Journals (Sweden)

Robles Muñoz, Cristóbal

2004-06-01

Full Text Available Problems and responses during the pontificate of León XIII experienced changes of orientation after arrival of Pío XII. One of the problems was how to extend the presence of the Church among society, and expand relations of the latest with the Church. Responses were freedom and justice. Freedom to reflect on faith, thinking over its origins and dialoguing with culture, and to use recognised civil rights. Justice as a moral compromise towards the inhuman life conditions suffered by the population. León XIII was frightened at any innovation, but accepted the debate.

Los problemas y respuestas presentes en la etapa de León XIII experimentaron un cambio de rumbo con la llegada de Pío X. Los problemas enraízan la presencia de la Iglesia en la sociedad y de ésta en la Iglesia. Las respuestas, la libertad y la justicia. La libertad, para pensar la fe, investigando sus orígenes y dialogando con la cultura, para usar derechos civilmente reconocidos. La justicia, como exigencia moral frente a las condiciones inhumanas en las que vive el pueblo. León XIII temió las novedades, pero aceptó el debate.

Evaluating Factor XIII Specificity for Glutamine-Containing Substrates Using a MALDI-TOF Mass Spectrometry Assay

Science.gov (United States)

Doiphode, Prakash G.; Malovichko, Marina V.; Mouapi, Kelly Njine; Maurer, Muriel C.

2014-01-01

Activated Factor XIII (FXIIIa) catalyzes the formation of γ-glutamyl-ε-lysyl cross-links within the fibrin blood clot network. Although several cross-linking targets have been identified, the characteristic features that define FXIIIa substrate specificity are not well understood. To learn more about how FXIIIa selects its targets, a matrix-assisted laser desorption ionization – time of flight mass spectrometry (MALDI-TOF MS) based assay was developed that could directly follow the consumption of a glutamine-containing substrate and the formation of a cross-linked product with glycine ethylester. This FXIIIa kinetics assay is no longer reliant on a secondary coupled reaction, on substrate labeling, or on detecting the final deacylation portion of the transglutaminase reaction. With the MALDI-TOF MS assay, glutamine-containing peptides derived from α2-antiplasmin, S. Aureus fibronectin binding protein A, and thrombin activatable fibrinolysis inhibitor were examined directly. Results suggest that the FXIIIa active site surface responds to changes in substrate residues following the reactive glutamine. The P-1 substrate position is sensitive to charge character and the P-2 and P-3 to the broad FXIIIa substrate specificity pockets. The more distant P-8 to P-11 region serves as a secondary substrate anchoring point. New knowledge on FXIIIa specificity may be used to design better substrates or inhibitors of this transglutaminase. PMID:24751466

Evaluation of thromboelastography in two factor XII-deficient cats.

Science.gov (United States)

Blois, Shauna L; Holowaychuk, Marie K; Wood, R Darren

2015-01-01

The current report describes thromboelastography (TEG) findings in two cats with factor XII (FXII) deficiency. The first cat was diagnosed with bilateral perinephric pseudocysts; hemostatic testing was performed prior to performing renal aspirates. The second cat was healthy; hemostatic testing was performed prior to inclusion into a research project. Both cats had markedly prolonged partial thromboplastin times and hypocoagulable TEG tracings when samples were activated with kaolin. However, when tissue factor (TF) was used to activate the sample, both cats had normal-to-hypercoagulable TEG tracings. The cats each had a subnormal FXII level. TEG is becoming widely used to investigate hemostasis in veterinary patients, and TEG results in cats with FXII deficiency have not been previously reported. FXII deficiency is the most common hereditary hemostatic defect in cats. While FXII deficiency does not lead to in vivo hemorrhagic tendencies, it can lead to marked prolongation in activated partial thromboplastin and activated clotting times, and cannot be differentiated from true hemorrhagic diatheses without measuring individual factor activity. With the increased use of TEG to evaluate hemostasis in veterinary patients, it is important to recognize the effects of FXII deficiency on this testing modality. The finding of a hypocoagulable kaolin-activated TEG tracing and a concurrent normal TF-activated TEG tracing in samples should prompt clinicians to consider ruling out FXII deficiency.

Evaluation of thromboelastography in two factor XII-deficient cats

Directory of Open Access Journals (Sweden)

Shauna L Blois

2015-05-01

Full Text Available Case summary The current report describes thromboelastography (TEG findings in two cats with factor XII (FXII deficiency. The first cat was diagnosed with bilateral perinephric pseudocysts; hemostatic testing was performed prior to performing renal aspirates. The second cat was healthy; hemostatic testing was performed prior to inclusion into a research project. Both cats had markedly prolonged partial thromboplastin times and hypocoagulable TEG tracings when samples were activated with kaolin. However, when tissue factor (TF was used to activate the sample, both cats had normal-to-hypercoagulable TEG tracings. The cats each had a subnormal FXII level. Relevance and novel information TEG is becoming widely used to investigate hemostasis in veterinary patients, and TEG results in cats with FXII deficiency have not been previously reported. FXII deficiency is the most common hereditary hemostatic defect in cats. While FXII deficiency does not lead to in vivo hemorrhagic tendencies, it can lead to marked prolongation in activated partial thromboplastin and activated clotting times, and cannot be differentiated from true hemorrhagic diatheses without measuring individual factor activity. With the increased use of TEG to evaluate hemostasis in veterinary patients, it is important to recognize the effects of FXII deficiency on this testing modality. The finding of a hypocoagulable kaolin-activated TEG tracing and a concurrent normal TF-activated TEG tracing in samples should prompt clinicians to consider ruling out FXII deficiency.

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...

Storage Pool Deficiencies

Science.gov (United States)

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

Evaluation of factor IX deficiency by interdigitated electrode (IDE)

Science.gov (United States)

Gopinath, Subash C. B.; Hashim, Uda; Uda, M. N. A.

2017-03-01

Factor IX deficiency is the main cause of hemophilia A and B. This a severe excessive bleeding disorder that can even kill the patient if not treated with the right prescription of Factor IX hormone to stop the bleeding. The bleeding can be caused by an injury or even a sudden bleeding in some very rare cases. To find the Factor IX effectiveness and to understand the deficiency more carefully for the future of medicine, experiments are conducted to test the Factor IX using the Interdigitated Electrode (IDE) and gold Nanoparticle with the help of Nanoelectrical technology.

Cre/lox Studies Identify Resident Macrophages as the Major Source of Circulating Coagulation Factor XIII-A.

Science.gov (United States)

Beckers, Cora M L; Simpson, Kingsley R; Griffin, Kathryn J; Brown, Jane M; Cheah, Lih T; Smith, Kerrie A; Vacher, Jean; Cordell, Paul A; Kearney, Mark T; Grant, Peter J; Pease, Richard J

2017-08-01

To establish the cellular source of plasma factor (F)XIII-A. A novel mouse floxed for the F13a1 gene, FXIII-A flox/flox (Flox), was crossed with myeloid- and platelet-cre-expressing mice, and cellular FXIII-A mRNA expression and plasma and platelet FXIII-A levels were measured. The platelet factor 4-cre.Flox cross abolished platelet FXIII-A and reduced plasma FXIII-A to 23±3% ( P cre on plasma FXIII-A was exerted outside of the megakaryocyte lineage because plasma FXIII-A was not reduced in the Mpl -/- mouse, despite marked thrombocytopenia. In support of this, platelet factor 4-cre depleted FXIII-A mRNA in brain, aorta, and heart of floxed mice, where FXIII-A pos cells were identified as macrophages as they costained with CD163. In the integrin αM-cre.Flox and the double copy lysozyme 2-cre.cre.Flox crosses, plasma FXIII-A was reduced to, respectively, 75±5% ( P =0.003) and 30±7% ( P <0.001), with no change in FXIII-A content per platelet, further consistent with a macrophage origin of plasma FXIII-A. The change in plasma FXIII-A levels across the various mouse genotypes mirrored the change in FXIII-A mRNA expression in aorta. Bone marrow transplantation of FXIII-A +/+ bone marrow into FXIII-A -/- mice both restored plasma FXIII-A to normal levels and replaced aortic and cardiac FXIII-A mRNA, while its transplantation into FXIII-A +/+ mice did not increase plasma FXIII-A levels, suggesting that a limited population of niches exists that support FXIII-A-releasing cells. This work suggests that resident macrophages maintain plasma FXIII-A and exclude the platelet lineage as a major contributor. © 2017 The Authors.

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy.

Science.gov (United States)

Napolitano, Mariasanta; Siragusa, Sergio; Mariani, Guglielmo

2017-03-28

Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition-even in homozygous subjects-to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the current review is to depict an updated summary of clinical phenotype, laboratory diagnosis, and treatment of inherited Factor VII deficiency.

Isolated acquired factor VII deficiency: review of the literature.

Science.gov (United States)

Mulliez, Sylvie M N; Devreese, Katrien M J

2016-04-01

Isolated acquired factor VII (FVII) deficiency is a rare haemorrhagic disorder. We report what is currently known about the pathogenesis, clinical features, diagnosis, treatment and prognosis of acquired FVII deficiency. We performed a literature search and included all articles published between 1980 and August 2015. Acquired FVII deficiency has been reported in 42 patients. There are well-established clinical diseases associated with acquired FVII deficiency, most notably infections, malignancy and haematological stem cell transplantation. The exact pathogenesis of the diseases is still unknown, but different pathophysiological hypotheses have been suggested. The clinical manifestation of acquired FVII deficiency varies greatly in severity; asymptomatic course as well as severe life-threatening bleeding diathesis and fatal bleedings have been described.

Lack of bleeding in patients with severe factor VII deficiency.

Science.gov (United States)

Barnett, J Mark; Demel, Kurt C; Mega, Anthony E; Butera, James N; Sweeney, Joseph D

2005-02-01

Factor VII deficiency, although rare, is now recognized as the most common autosomal recessive inherited factor deficiency. It is usually considered to be associated with bleeding only in the severely affected subject and heterozygotes (>10%) are not considered at risk. The general recommendation for surgery is to achieve a FVII level in excess of 15% (0.15 1U/mL). We present three cases of severe factor VII deficiency, each of whom appeared hemostatically competent based on clinical history. Subject 1 is a 33 year-old African-American female with a baseline FVII of American female with a factor VII level of 9% who underwent an elective left total hip replacement without any factor replacement and had no excessive bleeding, but who sustained a pulmonary embolism postoperatively. Subject 3 is a 19-year-old African-American male with a baseline FVII of 1% with a history of active participation in football without noticeable injury and who underwent an emergent appendectomy without bleeding. These three cases represent individuals with the severe form of FVII deficiency who did not exhibit excessive bleeding when challenged with surgical procedures. The clinical history would appear the most valuable tool in predicting the likelihood of bleeding in these patients, and we suggest that the presumption that all patients with severe FVII deficiency should receive replacement therapy before surgical procedures may not be valid in all cases. Copyright 2005 Wiley-Liss, Inc.

Classical elements in the endowments of Serbian XIII century donors

Directory of Open Access Journals (Sweden)

Gligorijević-Maksimović Mirjana

2009-01-01

Full Text Available In Byzantine painting, starting from the XIII and particularly during the XIV century, there was a visible return to models from the period of Antiquity. The influences of ancient, ostensibly, Hellenistic heritage were reflected in the shapes, in the content of the compositions, as well as in the drawing, modellation and colours. In the art that came into being in the course of the XIII century, in the endowments of the Serbian donors numerous elements emerged that had existed in ancient art. In the frescoes in the Church of the Mother of God in Studenica, the endowment of Stefan Nemanja and his sons, we see personifications, symbols, the introduction of details, and space acquiring depth, features that were later to come to full expression, especially from the middle of the XIII century. The few preserved frescoes dating from the XIII century in the Church of the Resurrection in the Žiča monastery, the endowment of Stefan the First Crowned, his son Radoslav and his brother Sava, are an iconographic continuation of the trends in the art one encounters in Studenica. The frescoes in the Church of Christ's Ascension in Mileševa, the endowment of King Vladislav, with their subtly fashioned figures and carefully modelled faces, as well as refined colouring, signal a return to the Hellenistic models. The painting in the Church of Dormition of the Virgin in the Morača monastery, the endowment of Prince Stefan, nephew of king Stefan, with its well-proportioned, firmly modelled figures, landscapes and architecture deepening the space, reminds one of the Sopoćani frescoes. In the fresco painting of the Holy Apostles in Peć, the endowment of Archbishop Sava which owed its outcome to the efforts of Archbishop Arsenije I, the images are very vivid, and the painted architecture is depicted in an abbreviated form, using different kinds of perspective. The painting in the Church of the Holy Trinity in Sopoćani, the endowment of king Uroš I, represents

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

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

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

Cerebral Venous Sinus Thrombosis in a Patient with Undiagnosed Factor VII Deficiency.

Science.gov (United States)

Qadir, Hira; Rashid, Anila; Adil, Salman Naseem

2017-09-01

Factor VII (FVII) deficiency is one of the rare inherited bleeding disorders. Thrombosis has been occasionally described in inherited FVII deficiency. Here, we report a young female with undiagnosed FVII deficiency who presented with cerebral venous sinus thrombosis (CVST). Oral contraceptive pill was found to be prothrombotic risk factor. The CVSToccurred in spite of the congenital FVII deficiency indicating that no definitive antithrombotic protection is assured by this defect. Low molecular weight heparin and anti-Xa assay were found to be safe choice of anticoagulation and monitoring, respectively, in this patient.

Inhibitor development after liver transplantation in congenital factor VII deficiency.

Science.gov (United States)

See, W-S Q; Chang, K-O; Cheuk, D K-L; Leung, Y-Y R; Chan, G C-F; Chan, S-C; Ha, S-Y

2016-09-01

Congenital factor VII (FVII) deficiency is the commonest type of the rare bleeding disorders. Very few cases of congenital FVII deficiency developed inhibitor and liver transplant is considered as definitive treatment. In the literature, twelve patients with congenital FVII deficiency developed inhibitors. Two had spontaneous resolution of inhibitors and one did not respond to high dose recombinant factor VIIa (rFVIIa) and died. Regarding liver transplant in congenital FVII patients, seven patients underwent liver transplant with good prognosis. We report a 5-year-old girl with confirmed severe congenital FVII deficiency since neonatal period. She suffered from recurrent intracranial bleeding despite rFVIIa replacement. After auxiliary liver transplant at the age of 4, she continued to show persistent deranged clotting profile and was found to have inhibitor towards FVII. Interestingly, she was still responsive to rFVIIa replacement. © 2016 John Wiley & Sons Ltd.

The Spanish King Alfonso XIII on pages of Russian Press in 1902–1917

Directory of Open Access Journals (Sweden)

Ariadna A. Petrova

2016-06-01

Full Text Available The article examines the approaches of the Russian press (“Moskovskie Vedomosti”, “Russkie Vedomosti”, “Novoe Vremia” to the evaluation of the Spanish King Alfonso XIII (1886–1941 at the first stage of his government. During this time he, acting within the powers granted to him by the Spanish constitution of the Restoration era, tried to stabilize the political situation in Spain and raise the prestige of the royal power, is also actively involved in social and political life of the country. Alfonso XIII also sought to raise the country's prestige in the international arena, seriously shaken after the “disaster in 1898”. The special attention is paid to the problem of formation of public opinion by the Russian press, on the example of newspaper coverage of humanitarian and intermediate activity of the Spanish king during the First World War. The activity of Alfonso XIII, aimed at protecting the interests of the citizens of the Russian Empire and the Slavic population of Austria-Hungary, in particular, his personal involvement in the rescue of the Austrian authorities was sentenced to death by a correspondent of the newspaper "New time" in Vienna D.G. Yanchevetskiy, forced the Russian public during the war to change the attitude towards Spain, its king and Spanish neutrality.

[Hereditary heterozygous factor VII deficiency in patients undergoing surgery : Clinical relevance].

Science.gov (United States)

Woehrle, D; Martinez, M; Bolliger, D

2016-10-01

A hereditary deficiency in coagulation factor VII (FVII) may affect the international normalized ratio (INR) value. However, FVII deficiency is occasionally associated with a tendency to bleed spontaneously. We hypothesized that perioperative substitution with coagulation factor concentrates might not be indicated in most patients. In this retrospective data analysis, we included all patients with hereditary heterozygous FVII deficiency who underwent surgical procedures at the University Hospital Basel between December 2010 and November 2015. In addition, by searching the literature, we identified publications reporting patients with FVII deficiency undergoing surgical procedures without perioperative substitution. We identified 22 patients undergoing 46 surgical procedures, resulting in a prevalence of 1:1500-2000. Coagulation factor concentrates were administered during the perioperative period in 15 procedures (33 %), whereas in the other 31 procedures (66 %), FVII deficiency was not substituted. No postoperative bleeding or thromboembolic events were reported. In addition, we found no differences in pre- and postoperative hemoglobin and coagulation parameters, with the exception of an improved postoperative INR value in the substituted group. In the literature review, we identified five publications, including 125 patients with FVII deficiency, undergoing 213 surgical procedures with no perioperative substitution. Preoperative substitution using coagulation factor concentrates does not seem to be mandatory in patients with an FVII level ≥15 %. For decision-making on preoperative substitution, patient history of an increased tendency to bleed may be more important than the FVII level or increased INR value.

What history tells us XIII. Fifty years of the Central Dogma

Indian Academy of Sciences (India)

2008-05-14

May 14, 2008 ... Home; Journals; Journal of Biosciences; Volume 33; Issue 2. What history tells us XIII. Fifty years of the Central Dogma. Michel Morange. Series Volume 33 Issue 2 June 2008 pp 171-175. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jbsc/033/02/0171-0175 ...

Prophylactic treatment of hereditary severe factor VII deficiency in pregnancy.

Science.gov (United States)

Pfrepper, Christian; Siegemund, Annelie; Hildebrandt, Sven; Kronberg, Juliane; Scholz, Ute; Niederwieser, Dietger

2017-09-01

: Severe hereditary factor VII deficiency is a rare bleeding disorder and may be associated with a severe bleeding phenotype. We describe a pregnancy in a 33-year-old woman with compound heterozygous factor VII deficiency and a history of severe menorrhagia and mucocutaneous bleedings. After discontinuation of contraceptives, menstruation was covered with recombinant activated factor VII (rFVIIa), and during pregnancy, rFVIIa had to be administered in first trimester in doses ranging from 15 to 90 μg/kg per day because of recurrent retroplacental hematomas and vaginal bleedings. Thrombin generation was measured in first trimester at different doses of rFVIIa and showed an increase in lag time when doses of less than 30 μg/kg/day were administered, whereas time to thrombin peak and peak thrombin were not influenced. A low-dose rFVIIa prophylactic treatment of 15 μg/kg every other day in the late second and in the third trimester was sufficient to allow a successful childbirth in this patient with severe factor VII deficiency.

Serendipitous Discovery of Factor VII Deficiency and the Ensuing Dilemma.

Science.gov (United States)

Umakanthan, Jayadev M; Dhakal, Prajwal; Gundabolu, Krishna; Koepsell, Scott A; Baljevic, Muhamed

2018-03-01

Congenital factor VII deficiency is a challenging disorder to manage, as it is associated with varied genotypes that do not clinically correlate with a bleeding phenotype. Individuals with severe factor VII deficiency (FVII: c 5%) may experience severe hemorrhages. In modern medicine, due to extensive routine pre-operative laboratory testing, clinically asymptomatic patients without any bleeding history might be incidentally discovered, raising clinical dilemmas. Careful consideration of bleeding versus thrombosis risk has to be made in such cases, especially in the elderly. Clinical history of no prior bleeding complications may be a reassuring factor. Minimal required replacement dosing of recombinant activated factor VII can be given peri-operatively in such situations, with close monitoring.

Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran.

Science.gov (United States)

Karimi, Mehran; Cairo, Andrea; Safarpour, Mohammad M; Haghpanah, Sezaneh; Ekramzadeh, Maryam; Afrasiabi, Abdolreza; Shahriari, Mahdi; Menegatti, Marzia

2014-06-01

Combined factor V (FV) and factor VIII (FVIII) deficiency is a rare autosomal recessive bleeding disorder characterized by mild-to-moderate bleeding. Epistaxis, postsurgical bleeding and menorrhagia are the most common symptoms. The aim of this study is to report the phenotype-genotype characterization carried out in patients affected with combined FV and FVIII deficiency from Iran. A cross-sectional study was conducted in Shiraz Hemophilia Center, southern Iran. Twelve cases, seven men and five women coming from eight families were included in our study after taking consent form. Coagulation activity for all patients was measured. All exons and intron-exon junctions of lectin mannose binding protein 1 (LMAN1) gene and multiple coagulation factor deficiency 2 genes were amplified by PCR, and subsequently sequenced by the Sanger method. Patients[Combining Acute Accent] age ranged from 6 to 59 years mean ± SD: 23.8 ± 15.4 years and median: 22 years. No patient presented with severe bleeding symptom. Only one patient had severe FV and FVIII deficiency (both factor levels stop codon. Larger studies are needed to calculate the correlation between factor levels, genetic and bleeding symptoms.

Risk Factors for Postoperative Fibrinogen Deficiency after Surgical Removal of Intracranial Tumors.

Directory of Open Access Journals (Sweden)

Naili Wei

Full Text Available Higher levels of fibrinogen, a critical element in hemostasis, are associated with increased postoperative survival rates, especially for patients with massive operative blood loss. Fibrinogen deficiency after surgical management of intracranial tumors may result in postoperative intracranial bleeding and severely worsen patient outcomes. However, no previous studies have systematically identified factors associated with postoperative fibrinogen deficiency. In this study, we retrospectively analyzed data from patients who underwent surgical removal of intracranial tumors in Beijing Tiantan Hospital date from 1/1/2013to12/31/2013. The present study found that patients with postoperative fibrinogen deficiency experienced more operative blood loss and a higher rate of postoperative intracranial hematoma, and they were given more blood transfusions, more plasma transfusions, and were administered larger doses of hemocoagulase compared with patients without postoperative fibrinogen deficiency. Likewise, patients with postoperative fibrinogen deficiency had poorer extended Glasgow Outcome Scale (GOSe, longer hospital stays, and greater hospital expenses than patients without postoperative fibrinogen deficiency. Further, we assessed a comprehensive set of risk factors associated with postoperative fibrinogen deficiency via multiple linear regression. We found that body mass index (BMI, the occurrence of postoperative intracranial hematoma, and administration of hemocoagulasewere positively associated with preoperative-to-postoperative plasma fibrinogen consumption; presenting with a malignant tumor was negatively associated with fibrinogen consumption. Contrary to what might be expected, intraoperative blood loss, the need for blood transfusion, and the need for plasma transfusion were not associated with plasma fibrinogen consumption. Considering our findings together, we concluded that postoperative fibrinogen deficiency is closely associated with

The Perils of Inhibiting Deficient Factors.

Science.gov (United States)

Sayar, Zara; Speed, Victoria; Patel, Jignesh P; Patel, Raj K; Arya, Roopen

2018-06-08

We report a case of a previously undiagnosed factor X deficiency in an 83-year old man, who had no previous bleeding history despite multiple haemostatic challenges. He was anticoagulated with warfarin for atrial fibrillation (AF) without bleeding complications; however, major haemorrhage occurred soon after a switch to rivaroxaban. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Use of recombinant factor VII for tooth extractions in a patient with severe congenital factor VII deficiency: a case report.

Science.gov (United States)

Weinstock, Robert J; Onyejiuwa, Andrew; Shnayder, Garry; Clarkson, Earl I

2015-04-01

Patients with factor VII deficiency have an increased risk of prolonged perioperative hemorrhage. In this article, the authors present a case of severe factor VII deficiency in a patient who required tooth extraction. A 44-year-old woman with severe congenital factor VII deficiency sought care for a symptomatic, carious, and nonrestorable maxillary right second molar that required extraction. The authors obtained hematologic consultation, and the patient underwent the extraction under general anesthesia in the inpatient setting. Perioperative management included performing relevant laboratory studies, preoperative recombinant factor VII infusion, and postoperative intravenous aminocaproic acid administration. No hemorrhagic complications occurred throughout the perioperative course. The degree of factor VII deficiency correlates poorly with bleeding risk. Perioperative management is variable, requiring preoperative consultation with a hematologist. Copyright © 2015 American Dental Association. Published by Elsevier Inc. All rights reserved.

Is prophylaxis required for delivery in women with factor VII deficiency?

Science.gov (United States)

Baumann Kreuziger, L M; Morton, Colleen T; Reding, Mark T

2013-11-01

Factor VII (fVII) deficiency is a rare congenital bleeding disorder in which fVII activity level and bleeding tendency do not completely correlate. Pregnancy and delivery present a significant haemostatic challenge to women with fVII deficiency. Treatment with recombinant factor VIIa (rfVIIa) carries a thrombotic risk and the literature is not clear whether prophylaxis is necessary prior to delivery. The aim of this study was to define management, haemorrhagic and thrombotic complications of pregnant women with fVII deficiency through a systematic review. Medical databases (PubMed, MEDLINE, CINAHL, Academic Search Premier, Cochrane Library, Web of Science and Scopus) were searched using "factor VII deficiency" and "pregnancy" or "surgery." Overall 34 articles, four abstracts, and three institutional cases were reviewed. Literature from 1953 to 2011 reported 94 live births from 62 women with fVII deficiency. The median fVII activity was 5.5%. Haemostatic prophylaxis was used in 32% of deliveries. Without prophylaxis, 40 vaginal deliveries and 16 caesarean sections were completed. The odds of receiving prophylaxis were 2.9 times higher in women undergoing caesarean section compared to vaginal delivery. Post-partum haemorrhage occurred in 10% of deliveries with prophylaxis and 13% of deliveries without prophylaxis. The fVII level did not significantly differ between women who did and did not receive prophylaxis. We present the only systematic review of the management of pregnancy in fVII deficient women. No difference in post-partum haemorrhage was seen in deliveries with and without prophylaxis. Therefore, we recommend that rfVIIa be available in the case of haemorrhage or surgical intervention, but not as mandatory prophylaxis. © 2013 John Wiley & Sons Ltd.

La expansión del posesivo pospuesto a la luz de documentación navarra (y aragonesa) del siglo XIII

OpenAIRE

Romero Cambrón, Angeles

2016-01-01

En los primitivos documentos romances el posesivo sólo aparece antepuesto al sustantivo (“(el) nuestro padre”). La posposición (“padre nuestro”) se empieza a registrar en el siglo XIII en aragonés y en dialecto navarro. Considerando principalmente la documentación de esta segunda variedad, el presente trabajo tiene como objetivo determinar el modo en que el posesivo adquirió la capacidad de aparecer pospuesto. Este cambio se vio impulsado por factores de naturaleza estructural. Uno de ellos e...

Ressenya a Ovidio Cuella Esteban i Juan B. Simó Castillo, Bulario de Benedicto XIII (1394-1423. VI. Diócesis de Tortosa. Maestrazgo de Santa María de Montesa. Testamento de Benedicto XIII, Peníscola, Associació ‘Amics del Papa Luna’, 2013, pp. 680, ISBN 978-84-616-7651-4

Directory of Open Access Journals (Sweden)

Blai Josep Server Server

2014-12-01

Full Text Available Review to Ovidio Cuella Esteban i Juan B. Simó Castillo, Bulario de Benedicto XIII (1394-1423. VI. Diócesis de Tortosa. Maestrazgo de Santa María de Montesa. Testamento de Benedicto XIII, Peníscola, Associació ‘Amics del Papa Luna’, 2013, pp. 680, ISBN 978-84-616-7651-4

Report of a Pediatric Case of Hemorrhagic Stroke

Directory of Open Access Journals (Sweden)

N Tabkhi

2009-01-01

Full Text Available Stroke, though rare in children is among the top 10 causes of death in childhood. Incidence of ischemic and hemorrhagic stroke is the same in children .We report a case of hemorrhagic stroke in a two year old girl who presented with a limp, inability to stand on the left leg and left hemiparesia. Her complaint began 10 days ago after a bout of left clonic seizure. She had been admitted to the hospital for a week due to delayed hemorrhage of the umbilical stump at the age of 18 days. Brain CT scan showed a round, hyper dense area with mass effect in the right supraparietal region. Craniotomy revealed a hemorrhage and report of pathology was hematoma. Considering the delayed umbilical cord bleeding and normality of usual tests for hemostasis and partial deficiency of factor XIII in both parents, the problem was diagnosed as homozygote severe deficiency of factor XIII.

Iron-deficiency anemia and associated factors among preschool children in Diamantina, Minas Gerais, Brazil

Directory of Open Access Journals (Sweden)

Luciana Neri NOBRE

Full Text Available ABSTRACT Objective: Study the prevalence of iron depletion and iron-deficiency anemia and their associated factors in preschool children. Methods: Cross-sectional study with five-year old preschool children from a birth cohort of the city of Diamantina, Minas Gerais state, Brazil. Socioeconomic, demographic, and dietary characteristics were obtained through a questionnaire administered to each child mother or guardian. Iron depletion (normal hemoglobin and low serum ferritin levels and iron-deficiency anemia (hemoglobin level than 11g/dL were detected after collecting 5mL of venous blood of preschool children. Poisson regression was used to identify the factors associated with iron depletion and iron-deficiency anemia. Results: A total of 228 preschool were evaluated, corresponding to 97.4% of the children from a cohort study followed-up up to the end of their first year of life. Iron depletion and iron-deficiency anemia were detected, respectively, in 15.9% and 18.9% of the preschool children evaluated. Iron depletion was not associated with any variable studied, while low maternal education level was associated with iron-deficiency anemia (PR=1.83; P=0.03. Conclusion: Iron-deficiency anemia is considered as a mild public health problem among 5-year old children in the city of Diamantina, Minas Gerais. Higher maternal education level was a protective factor against this deficiency, and therefore it is as an important marker for the occurrence of iron-deficiency anemia in the population studied.

Importance of pharmacokinetic studies in the management of acquired factor X deficiency.

Science.gov (United States)

Lim, Ming Y; McCarthy, Timothy; Chen, Sheh-Li; Rollins-Raval, Marian A; Ma, Alice D

2016-01-01

Up to 14% of individuals with systemic AL amyloidosis develop acquired factor X deficiency, which occurs due to adsorption of factor X onto amyloid fibrils. Although baseline factor X levels are not predictive of bleeding risk in these patients, serious hemorrhagic complications can occur, particularly during invasive procedures. Optimal management strategies to attenuate bleeding risk in these patients are unknown. We describe our experience in the management of acquired factor X deficiency, secondary to systemic AL amyloidosis, in a case series of three patients who received prothrombin complex concentrates (PCCs) for treatment and prevention of bleeding events. We performed a retrospective review extracting information on baseline demographics, laboratory data, pharmacokinetic (PK) studies, and clinically documented bleeding events. Our case series demonstrates that individuals with acquired factor X deficiency secondary to amyloidosis have variable laboratory and clinical responses to PCCs. This is likely due to distinct amyloid loads and fibril sequences, leading to different binding avidities for factor X. Our data emphasize the importance of performing PK testing prior to any invasive procedures to determine the dose and frequency interval to achieve adequate factor X levels for hemostasis, given the variable response between individuals. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Story of Serum Prothrombin Conversion Accelerator, Proconvertin, Stable Factor, Cothromboplastin, Prothrombin Accelerator or Autoprothrombin I, and Their Subsequent Merging into Factor VII.

Science.gov (United States)

Girolami, Antonio; Cosi, Elisabetta; Santarossa, Claudia; Ferrari, Silvia; Luigia Randi, Maria

2015-06-01

Factor VII (FVII) deficiency is one of the two congenital coagulation disorders that was not discovered by the description of a new bleeding patient whose clotting pattern did not fit the blood coagulation knowledge of the time (the other is factor XIII deficiency). The existence of an additional factor capable of accelerating the conversion of prothrombin into thrombin was suspected before 1951, the year in which the first family with FVII deficiency was discovered. As several investigators were involved in the discovery of FVII deficiency from both sides of the Atlantic, several different names were tentatively suggested to define this entity, namely stable factor (in contrast with labile factor or FV), cothromboplastin, proconvertin, serum prothrombin conversion accelerator, prothrombin acceleration, and autoprothrombin I. The last term was proposed by those who denied the existence of this new entity, which was instead considered to be a derivate of prothrombin activation, namely autoprothrombin. The description of several families, from all over the world, of the same defect, however clearly demonstrated the singularity of the condition. Factor VII was then proposed to define this protein. In subsequent years, several variants were described with peculiar reactivity toward tissue thromboplastins of different origin. Molecular biology techniques demonstrated several gene mutations, usually missense mutations, often involving exon 8 of the FVII gene. Later studies dealt with the relation of FVII with tissue factor and activated FVII (FVIIa). The evaluation of circulating FVIIa was made possible by the use of a truncated form of tissue factor, which is only sensitive to FVIIa present in the circulation. The development of FVII concentrates, both plasma derived and recombinant, has facilitated therapeutic management of FVII-deficient patients. The use of FVIIa concentrates was noted to be associated with the occasional occurrence of thrombotic events, mainly

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 ...

Vena porta thrombosis in patient with inherited factor VII deficiency

DEFF Research Database (Denmark)

Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

2010-01-01

Most clotting factor VII (FVII)-deficient patients suffer from bleeding episodes and occasionally thromboembolic complications after surgical interventions or replacement therapy. However, thromboses without apparent triggering factors may occur as well. We report a case of a pregnant woman...... vein with well expressed portosystemic collaterals, heterozygosity for three common polymorphisms in FVII gene, associated with reduction in plasma FVII levels, and no other factors predisposing to thrombosis....

Vitamin D deficiency: a new risk factor for type 2 diabetes?.

Science.gov (United States)

Mezza, T; Muscogiuri, G; Sorice, G P; Prioletta, A; Salomone, E; Pontecorvi, A; Giaccari, A

2012-01-01

Recent compelling evidence suggests a role of vitamin D deficiency in the pathogenesis of insulin resistance and insulin secretion derangements, with a consequent possible interference with type 2 diabetes mellitus. The mechanism of this link is incompletely understood. In fact, vitamin D deficiency is usually detected in obesity in which insulin resistance is also a common finding. The coexistence of insulin resistance and vitamin D deficiency has generated several hypotheses. Some cross-sectional and prospective studies have suggested that vitamin D deficiency may play a role in worsening insulin resistance; others have identified obesity as a risk factor predisposing individuals to exhibit both vitamin D deficiency and insulin resistance. The available data from intervention studies are largely confounded, and inadequate considerations of seasonal effects on 25(OH)D concentrations are also a common design flaw in many studies. On the contrary, there is strong evidence that obesity might cause both vitamin D deficiency and insulin resistance, leaving open the possibility that vitamin D and diabetes are not related at all. Although it might seem premature to draw firm conclusions on the role of vitamin D supplementation in reducing insulin resistance and preventing type 2 diabetes, this manuscript will review the circumstances leading to vitamin D deficiency and how such a deficiency can eventually independently affect insulin sensitivity. Copyright © 2012 S. Karger AG, Basel.

[Religion and healing in the XIII century: some considerations about therapy and holy medical observations in Iacopo da Varagine's Cronica Civitatis Ianuensis].

Science.gov (United States)

Moggia, Carlo

2004-01-01

The article is dedicated to recovery and holy therapy in Medieval society. In the XIII century Roman Church define the religious observations of physical and spiritual healing: the intervention of Saints and their holy miracles is very important for a perfect recovery. The article analyse the holy therapy through the study of the Cronica Civitatis Ianuensis read by the Dominican friar Iacopo da Varagine, at the end of the XIII century. This work represents one of the most important literary and hagiographic instrument to comprehend medical medieval imaginary.

Red portuaria y control marítimo en el reino de Valencia (siglos XIII-XV)

OpenAIRE

Igual Luis, David

2013-01-01

El trabajo aborda la progresiva creación de una red portuaria en el litoral valenciano de los siglos XIII-XV y, a partir de ella, el desarrollo de diversos instrumentos de control marítimo que atendían a principios políticos, legales, infraestructurales y hasta territoriales.

Gyvulininkystė pietryčių Lietuvoje XIII-XIV a

OpenAIRE

Vitkūnas, Manvydas

2006-01-01

Gyvulininkystė XIII-XIV a. buvo viena svarbiausių ūkio šakų. Pietryčių Lietuvos archeologiniuose paminkluose surinktos osteologinės medžiagos tyrimų duomenimis, naminiai gyvuliai daugeliui gyventojų buvo pagrindiniu mėsos šaliniu. Pietryčių Lietuvos archeologiniuose paminkluose (Nemenčinės, Bradeliškių, Maišiagalos, Aukštadvario piliakalniuose, viduramžių Kernavės miesto vietoje, Vilniaus žemutinėje pilyje) naminių gyvulių kaulai sudarė dažniausiai 80-95%, o Maišiagalos piliakalnyje – net 99%...

Congenital factor XI and factor VII deficiencies assure an apparent opposite protection against arterial or venous thrombosis: An intriguing observation.

Science.gov (United States)

Girolami, A; Peroni, E; Girolami, B; Ferrari, S; Lombardi, A M

2016-09-01

To investigate the prevalence and type of thrombotic events reported in patients with congenital factor XI (FXI) or factor VII (FVII) deficiency. Data on all patients with congenital FXI or FVII deficiency and a thrombotic event were gathered by means of a time unlimited PubMed search carried out in June 2014 and in February 2015. Appropriate keywords including the medical subject headings were used in both instances. Side tables were also consulted and cross-checking of the references was carried out to avoid omissions. The thrombosis event had to be proven by objective methods. Forty-three patients with FXI deficiency had arterial thrombosis and only eight had venous thrombosis. On the contrary, only five patients with FVII deficiency had arterial thrombosis whereas 31 patients had venous thrombosis. The arterial/venous ratios were 5.37 and 0.17 for FXI or FVII, respectively. Arterial thrombosis is frequent in FXI deficiency whereas venous thrombosis is rare. The reverse is true for FVII deficiency. The significance of these findings is discussed especially in view of the recent use of synthetic anti-FXI compounds in the prophylaxis of post-orthopedic surgery of venous thrombosis complications.

Prevalence and factors promoting the occurrence of vitamin D deficiency in the elderly.

Science.gov (United States)

Wyskida, Magdalena; Wieczorowska-Tobis, Katarzyna; Chudek, Jerzy

2017-03-13

Vitamin D deficiency affects a large part of the population of elderly people, especially women, who live in moderate climate countries due to a reduced amount of vitamin D in the diet (small sea fish consumption) and reduced content of 7-dehydrocholesterol, which causes decreased skin synthesis. The lowest seasonal concentration of 25(OH)D3 is usually observed during winter and spring. Sun exposure influences 25(OH)D3 concentration more strongly in men than in women. Sociodemographic factors that increase the risk of vitamin D deficiency in the elderly include poor environmental conditions, low economic status, lower educational level, drug exposure (smoking), reduced physical activity, overall poor health and obesity, which causes reduced skin exposure to sunlight. The use of medications or supplements that contain vitamin D and staying in a nursing home that employ such supplementation are factors that prevent deficiency. Significant prevalence of diseases of the gastrointestinal tract may contribute to cholecalciferol and ergocalciferol malabsorption or impair their liver transformation. In addition, the high incidence of chronic kidney disease in old age reduces processing hydroxylation of vitamin D and the formation of active metabolites. Vitamin D deficiency can not only cause bone mineralization disorders, but also increase incidence of cardiovascular diseases, cancers, type 2 diabetes and depression. The aim of this study was to summarize current knowledge about the risk factors of vitamin D deficiency development in the elderly population.

Pathogenetic role of Factor VII deficiency and thrombosis in cross-reactive material positive patients.

Science.gov (United States)

Girolami, A; Sambado, L; Bonamigo, E; Ferrari, S; Lombardi, A M

2013-12-01

Congenital Factor VII (FVII) deficiency can be divided into two groups: cases of "true" deficiency, or cross-reactive material (CRM) negative and variants that are cross-reactive material positive.The first form is commonly recognized as Type I condition whereas the second one is known as Type II. FVII deficiency has been occasionally associated with thrombotic events, mainly venous. The reasons underlying this peculiar manifestation are unknown even though in the majority of associated patients thrombotic risk factors are present. The purpose of the present study was to investigate if a thrombotic event was more frequent in Type I or in Type II defect.The majority of patients with FVII deficiency and thrombosis belong to Type II defects. In the following paper we discuss the possible role of the dysfunctional FVII cross-reaction material as a contributory cause for the occurrence of thrombosis.

Vitamin D deficiency and its risk factors in Malaysian children with epilepsy.

Science.gov (United States)

Fong, Choong Yi; Kong, Ann Nie; Poh, Bee Koon; Mohamed, Ahmad Rithauddin; Khoo, Teik Beng; Ng, Rui Lun; Noordin, Mazidah; Nadarajaw, Thiyagar; Ong, Lai Choo

2016-08-01

Long-term use of antiepileptic drugs (AEDs) is a significant risk factor for vitamin D deficiency in children with epilepsy. The aims of our study were to evaluate the prevalence and risk factors for vitamin D deficiency among Malaysian children with epilepsy. Cross-sectional study of ambulant children with epilepsy on long-term AEDs for >1 year seen in three tertiary hospitals in Malaysia from April 2014 to April 2015. Detailed assessment of pubertal status, skin pigmentation, sunshine exposure behavior, physical activity, dietary vitamin D and calcium intake, anthropometric measurements and bone health blood tests (vitamin D, alkaline phosphatase, calcium, phosphate, and parathyroid hormone levels) were obtained on all patients. Vitamin D deficiency was defined as 25-hydroxy vitamin D [25(OH)D] levels ≤35 nmol/L and insufficiency as 25(OH)D levels of 36-50 nmol/L. A total of 244 children (146 male) participated in the study. Ages ranged between 3.7 and 18.8 years (mean 12.3 years). 25(OH)D levels ranged between 7.5 and 140.9 nmol/L (mean 53.9 nmol/L). Vitamin D deficiency was identified in 55 patients (22.5%), and a further 48 (19.7%) had vitamin D insufficiency. Multivariate logistic regression analysis identified polytherapy >1 AED (odds ratio [OR] 2.16, 95% confidence interval [CI] 1.07-4.36), age >12 years (OR 4.16, 95% CI 1.13-15.30), Indian ethnicity (OR 6.97, 95% CI 2.48-19.55), sun exposure time 30-60 min/day (OR 2.44, 95% CI 1.05-5.67), sun exposure time <30 min/day (OR 3.83, 95% CI 1.61-9.09), and female (OR 2.61, 95% CI 1.31-5.20) as statistically significant (p < 0.05) risk factors for vitamin D deficiency. Despite living in the tropics, a high proportion of Malaysian children with epilepsy are at risk of vitamin D deficiency. Targeted strategies including vitamin D supplementation and lifestyle advice of healthy sunlight exposure behavior should be implemented among children with epilepsy, particularly for those at high risk of having vitamin D

Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven(®)).

Science.gov (United States)

Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

2013-01-01

This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of severe side effects.

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 ...

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER).

Science.gov (United States)

Napolitano, Mariasanta; Giansily-Blaizot, Muriel; Dolce, Alberto; Schved, Jean F; Auerswald, Guenter; Ingerslev, Jørgen; Bjerre, Jens; Altisent, Carmen; Charoenkwan, Pimlak; Michaels, Lisa; Chuansumrit, Ampaiwan; Di Minno, Giovanni; Caliskan, Umran; Mariani, Guglielmo

2013-04-01

Because of the very short half-life of factor VII, prophylaxis in factor VII deficiency is considered a difficult endeavor. The clinical efficacy and safety of prophylactic regimens, and indications for their use, were evaluated in factor VII-deficient patients in the Seven Treatment Evaluation Registry. Prophylaxis data (38 courses) were analyzed from 34 patients with severe factor VII deficiency (factor VII (24 courses), four received plasma-derived factor VII, and ten received fresh frozen plasma. Prophylactic schedules clustered into "frequent" courses (three times weekly, n=23) and "infrequent" courses (≤ 2 times weekly, n=15). Excluding courses for menorrhagia, "frequent" and "infrequent" courses produced 18/23 (78%) and 5/12 (41%) "excellent" outcomes, respectively; relative risk, 1.88; 95% confidence interval, 0.93-3.79; P=0.079. Long term prophylaxis lasted from 1 to >10 years. No thrombosis or new inhibitors occurred. In conclusion, a subset of patients with factor VII deficiency needed prophylaxis because of severe bleeding. Recombinant activated factor VII schedules based on "frequent" administrations (three times weekly) and a 90 μg/kg total weekly dose were effective. These data provide a rationale for long-term, safe prophylaxis in factor VII deficiency.

Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy.

Science.gov (United States)

Tiscia, Giovanni; Favuzzi, Giovanni; Chinni, Elena; Colaizzo, Donatella; Fischetti, Lucia; Intrieri, Mariano; Margaglione, Maurizio; Grandone, Elvira

2017-01-01

This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified during routine or presurgery examinations or after a laboratory assessment of a bleeding episode. Mutation characterization was performed using the bioinformatics applications PROMO, SIFT, and Polyphen-2. Structural changes in the factor VII protein were analyzed using the SPDB viewer tool. Of the 10 variants we identified, 1 was responsible for a novel missense change (c.1199G>C, p.Cys400Ser); in 2 cases we identified the c.-54G>A and c.509G>A (p.Arg170His) polymorphic variants in the 5'-upstream region of the factor VII gene and exon 6, respectively. To our knowledge, neither of these polymorphic variants has been described previously in factor VII-deficient patients. In silico predictions showed differences in binding sites for transcription factors caused by the c.-54G>A variant and a probable damaging effect of the p.Cys400Ser missense change on factor VII active conformation, leading to breaking of the Cys400-Cys428 disulfide bridge. Our findings further suggest that, independently of factor VII levels and of variants potentially affecting factor VII levels, environmental factors, e.g., trauma, could heavily influence the clinical phenotype of factor VII-deficient patients.

Maternal Iron Deficiency Anemia as a Risk Factor for the Development of Retinopathy of Prematurity.

Science.gov (United States)

Dai, Alper I; Demiryürek, Seniz; Aksoy, Sefika Nur; Perk, Peren; Saygili, Oguzhan; Güngör, Kivanc

2015-08-01

Retinopathy of prematurity is a proliferative vascular disease affecting premature newborns and occurs during vessel development and maturation. The aim of this study was to evaluate the maternal iron deficiency anemia as possible risk factors associated with the development of retinopathy of prematurity among premature or very low birth weight infants. In this study, mothers of 254 infants with retinopathy of prematurity were analyzed retrospectively, and their laboratory results of medical records during pregnancy were reviewed for possible iron deficiency anemia. In a cohort of 254 mothers of premature infants with retinopathy of prematurity, 187 (73.6%) had iron deficiency, while the remaining 67 (26.4%) mothers had no deficiency. Babies born to mothers with iron deficiency anemia with markedly decreased hemoglobin, hematocrit, mean corpuscular volume, serum iron, and ferritin levels were more likely to develop retinopathy of prematurity. Our results are the first to suggest that maternal iron deficiency is a risk factor for the development of retinopathy of prematurity. Our data suggest that maternal iron supplementation therapy during pregnancy might lower the risk of retinopathy of prematurity. Copyright © 2015 Elsevier Inc. All rights reserved.

Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in women and girls with hereditary factor X deficiency.

Science.gov (United States)

Kulkarni, R; James, A H; Norton, M; Shapiro, A

2018-05-01

Essentials Plasma-derived factor X concentrate (pdFX) is used to treat hereditary factor X deficiency. pdFX pharmacokinetics, safety and efficacy were assessed in factor X-deficient women/girls. Treatment success rate was 98%; only 6 adverse events in 2 subjects were possibly pdFX related. On-demand pdFX 25 IU kg -1 was effective and safe in women/girls with factor X deficiency. Background A high-purity, plasma-derived factor X concentrate (pdFX) has been approved for the treatment of hereditary FX deficiency, an autosomal recessive disorder. Objective To perform post hoc assessments of pdFX pharmacokinetics, safety and efficacy in women and girls with hereditary FX deficiency. Patients/Methods Subjects aged ≥ 12 years with moderate/severe FX deficiency (plasma FX activity of girls (aged 14-58 years [median, 25.5 years]) received 267 pdFX infusions. Mean monthly infusions per subject were higher among women and girls (2.48) than among men and boys (1.62). In women and girls, 132 assessable bleeding episodes (61 heavy menstrual bleeds, 47 joint bleeds, 15 muscle bleeds, and nine other bleeds) were treated with pdFX, with a 98% treatment success rate versus 100% in men and boys. Mean pdFX incremental recovery was similar in the two groups (2.05 IU dL -1 versus 1.91 IU dL -1 per IU kg -1 ), as was the mean half-life (29.3 h versus 29.5 h). Of 142 adverse events in women and girls, headache was the most common (12 events in six subjects). Six events (two infusion-site erythema, two fatigue, one back pain, one infusion-site pain) in two subjects were considered to be possibly pdFX-related. Following the trial, pdFX was used to successfully maintain hemostasis in two subjects undergoing obstetric delivery. Conclusions pdFX was well tolerated and effective in women and girls with FX deficiency. Although women and girls had different bleeding symptoms and sites than men and boys, their pdFX pharmacokinetic profile was comparable. © 2018 The Authors. Journal of

Tactic "Tulgama" the Art of War the Mongols XIII century

Directory of Open Access Journals (Sweden)

Leonid A. Bobrov

2015-12-01

Full Text Available In this publication, based on a comprehensive analysis of the sources, considered one of the most important tactics of the Mongols of the XIII century, known under the Turkic name "Tulgama". The name of the maneuver is derived from the Turkic verb "talamak", meaning "to surround, to wrapped up, to turn, to whirl, to twist". It is established that the maneuver "Tulgama" was a special tactic, providing coverage flank (flanks of the enemy in the rear and the application of massed archery shot in his builds. Selected three varieties under consideration tactic: right flank or left flank and steam room (double "Tulgama". The most typical was right flanks "Tulgama" when doing the nomads, covered the left wing of the enemy with its right flank. This allowed the attacking archers to fire from the most convenient position (left-forward, left, and left-back. A characteristic feature of the Mongol tactical art was a steam room (double "Tulgama" when the troops of nomads covered both enemy's flank, concluding the enemy's army in the ring, then attacked her from all four sides. A similar technique could not only shoot down from the position, but almost completely destroy the enemy troops. For the most efficient use of maneuver "Tulgama" the Mongols made increasing use of expanded mesalamines system, with a powerful thrust forward flank groups. The concentration of the shock troops on the flanks (reinforced, including by weakening the Central shelf is dramatically different from the tactics of the Mongols from the traditional tactics of the Turks, whose best part was typically the center of the combat formations. However, direct confrontation of these two approaches during the military campaigns of the XIII century demonstrated the advantages of the Mongol tactical schemes. High efficiency of reception "Tulgama" led to its continued existence in the military art of the nomads.

Mutation in the factor VII hepatocyte nuclear factor 4α-binding site contributes to factor VII deficiency.

Science.gov (United States)

Zheng, Xing-Wu; Kudaravalli, Rama; Russell, Theresa T; DiMichele, Donna M; Gibb, Constance; Russell, J Eric; Margaritis, Paris; Pollak, Eleanor S

2011-10-01

Severe coagulant factor VII (FVII) deficiency in postpubertal dizygotic twin males results from two point mutations in the FVII gene, a promoter region T→C transition at -60 and a His-to-Arg substitution at amino acid 348; both mutations prevent persistence of plasma functional FVII. This report documents longitudinal laboratory measurements from infancy to adulthood of FVII coagulant activity (FVII:C) in the twin FVII-deficient patients; it also details specific biochemical analyses of the -60 T→C mutation. The results revealed FVII:C levels of less than 1% in infancy that remain severely decreased through puberty and into adulthood. In-vitro analyses utilizing hepatocyte nuclear factor 4α (HNF4α) co-transfection and a chromatin immunoprecipitation assay indicate that the -60 T→C mutation severely diminishes functional interaction between the FVII promoter and transcription factor HNF4α. The importance of interaction between the FVII gene and HNF4α in normal FVII expression provides an in-vivo illustration of the regulated expression of an autosomal gene encoding a coagulation protein. The constancy of FVII:C and peripubertal patient symptomatology reported here illustrates androgen-independent expression in contrast to expression with an analogous mutation in the promoter region of the gene encoding coagulation FIX.

An immunologic approach to induction of epidermal growth factor deficiency

DEFF Research Database (Denmark)

Raaberg, Lasse; Nexø, Ebba; Poulsen, Steen Seier

1995-01-01

Epidermal growth factor (EGF) in pharmacologic doses is able to induce growth and development in the fetus and the newborn. To investigate the opposite situation, the effects of insufficient amounts of EGF during development, we wanted to establish an in vivo model with a state of EGF deficiency....

Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

Science.gov (United States)

Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

2013-01-01

This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. Case report A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. Conclusion This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of

Ethylene response factor AtERF72 negatively regulates Arabidopsis thaliana response to iron deficiency.

Science.gov (United States)

Liu, Wei; Li, Qiwei; Wang, Yi; Wu, Ting; Yang, Yafei; Zhang, Xinzhong; Han, Zhenhai; Xu, Xuefeng

2017-09-23

Ethylene regulates the plant's response to stress caused by iron (Fe) deficiency. However, specific roles of ERF proteins in response to Fe deficiency remain poorly understood. Here, we investigated the role of ERF72 in response to iron deficiency in Arabidopsis thaliana. In this study, the levels of the ethylene response factor AtERF72 increased in leaves and roots induced under the iron deficient conditions. erf72 mutant plants showed increased growth compared to wild type (WT) when grown in iron deficient medium for 5 d. erf72 mutants had increased root H + velocity and the ferric reductase activity, and increase in the expression of the iron deficiency response genes iron-regulated transporter 1 (IRT1) and H + -ATPase (HA2) levels in iron deficient conditions. Compared to WT plants, erf72 mutants retained healthy chloroplast structure with significantly higher Fe and Mg content, and decreased chlorophyll degradation gene pheophorbide a oxygenase (PAO) and chlorophyllase (CLH1) expression when grown in iron deficient media. Yeast one-hybrid analysis showed that ERF72 could directly bind to the promoter regions of iron deficiency responses genes IRT1, HA2 and CLH1. Based on our results, we suggest that ethylene released from plants under iron deficiency stress can activate the expression of ERF72, which responds to iron deficiency in the negative regulation. Copyright © 2017 Elsevier Inc. All rights reserved.

A case of factor X deficiency in a Chihuahua dog.

Science.gov (United States)

Heuss, Jessica; Weatherton, Linda

2016-08-01

A juvenile Chihuahua dog developed hemoperitoneum after routine ovariohysterectomy. She was managed with packed red blood cell and fresh frozen plasma transfusions as well as an exploratory laparotomy to verify ligature sites. No recurrence of hemorrhage occurred. Factor X deficiency was diagnosed and confirmed with repeat analysis including during times of health.

Factors Associated with Vitamin D Testing, Deficiency, Intake, and Supplementation in Patients with Chronic Pain.

Science.gov (United States)

Gaikwad, Manasi; Vanlint, Simon; Moseley, G Lorimer; Mittinty, Murthy N; Stocks, Nigel

2017-11-02

Vitamin D deficiency is a public health issue, with reports of six- to twenty-five-fold rise in vitamin D testing. Vitamin D deficiency has been linked to many chronic diseases such as diabetes mellitus, cardiovascular disease, depression, and chronic pain. Identifying factors associated with risk of deficiency in individuals with chronic pain will help minimize time and cost. This study aims to examine the factors associated with vitamin D testing, intake, and physician-advised supplementation in individuals with chronic pain. Using a cross-sectional design, data were collected from 465 individuals with chronic pain. These data were analyzed using penalized logistic regression with the LASSO technique. Fifty-seven percent reported being tested for vitamin D, about 40% reported being diagnosed with vitamin D deficiency, and of those who had been tested, 60% reported taking vitamin D supplementation. The findings suggest older age (OR 3.12, CI [1.02, 9.50]) and higher mean pain intensity score (OR 2.02, CI [1.13, 3.59]) increased an individual's chance of being vitamin D deficient. Unemployment or on leave due to pain (OR 1.79, [CI 1.03, 3.11]), part-time employment (OR 1.86, CI [1.02, 3.39]), and being a resident of Australia (OR 2.32, CI [1.13, 4.72]) increased chances of being tested for vitamin D. Being diagnosed with vitamin D deficiency (OR 6.67, CI [2.75, 16.19]), unemployed or on leave due to pain (OR 3.71, CI [1.25, 11.00]), and in part-time employment (OR 2.69, CI [0.86, 8.38]) were associated with physician-advised vitamin D supplementation. Our results may have practical implications, as identifying pretest risk factors may assist in identifying who is at risk of vitamin D deficiency, whom to test, and when to treat.

Hypothalamic growth hormone releasing factor deficiency following cranial irradiation

International Nuclear Information System (INIS)

Ahmed, S.R.; Shalet, S.M.

1984-01-01

The effect of synthetic human pancreatic tumour GH releasing factor (hp GRF1-44) on GH release has been studied in 10 patients with radiation-induced GH deficiency and four normal subjects. All 10 patients showed subnormal GH responses to both an ITT (median peak GH 3.2 mU/1) and to arginine stimulation (median peak GH 2.9 mU/1), although the remainder of pituitary function was intact. Following an acute intravenous bolus (100 μg) of hp GRF1-44, there was no GH response in two patients and a subnormal but definite GH response in a further four. The remaining four patients showed a significant GH response (median peak GH level 29 mU/1; range 22-57 mU/1) to hp GRF1-44, similar in magnitude and timing to that seen in th four normals. This strongly suggests that in these four subjects, the discrepancy in GH responses to hp GRF1-44, ITT and to arginine was a result of radiation-induced hypothalamic damage leading to a deficiency of endogenous GRF. The availability of synthetic hp GRF capable of stimulating GH secretion means that the distinction between hypothalamic and pituitary causes of GH deficiency will be of considerable therapeutic importance in the future. (author)

Factors affecting sustainable iodine deficiency elimination in Pakistan: A global perspective

Directory of Open Access Journals (Sweden)

Rehman Mehmood Khattak

2017-06-01

Full Text Available Iodine deficiency remains a considerable challenge worldwide, even after decades of efforts to address the problem. The aim of this review is to present the current situation in historically iodine-deficient Pakistan regarding iodine nutritional status and place it in a global perspective. We collected relevant articles from online bibliographic databases and websites of concerned organizations that addressed prevalence of goiter/iodine deficiency and barriers to sustainable control. We divided the studies into pre- and post-1994, a landmark year when Pakistan formally adopted the universal salt iodization (USI programme. Overall, 56 studies reported goiter/iodine deficiency prevalence in Pakistan. Before 1994, six studies (30% reported a goiter prevalence ≥70%, while nine studies (45% reported a goiter prevalence between 30% and 70%. Only five studies (25% found a goiter prevalence less than 30%, of which only two studies reported prevalence <10%. From 1994 onwards, 15 studies (41.7% reported a goiter/iodine deficiency (ID prevalence ≥50%, of which seven studies reported prevalence ≥70%, while three studies (8.3% found a goiter prevalence of 30%–49%, nine studies (25% found a goiter prevalence of 10%–29%, and five studies (13.9% reported prevalence of <10%. Four studies (11.1% reported lower goiter prevalence but higher prevalence of iodine deficiency. The efforts in the past two decades resulted in up to a 50% decline in iodine deficiency disorders (IDD. Variable remaining factors and the recent results, however, indicate that this decline may be non-uniform and even over-estimated. Coordinated and regionally adopted efforts for eradication of IDD from all stakeholders should be pursued. Policy makers should take steps to protect future generations and alert concerned organizations about the importance of careful assessments and estimates of iodine nutritional status.

High Prevalence of Vitamin D Deficiency and Associated Risk Factors among Employed Women in a Sunny Industrial City.

Science.gov (United States)

Hassannia, Tahereh; GhaznaviRad, Ehsan; Vakili, Rosita; Taheri, Sohaila; Rezaee, Seyed Abdolrahim

2015-01-01

Vitamin D deficiency is a public health concern associated with the pathogenesis of several chronic disorders, particularly in women. To evaluate serum vitamin D levels and its deficiency and risk factors among employed women in a sunny industrial city. In this cross-sectional study, serum vitamin D levels, biochemical and hematological factors were assessed in 382 healthy employed women. Demographic information was collected using a standard questionnaire and data was analyzed by SPSS software. The mean vitamin D serum level was 22 ± 19.8 ng/ml. Prevalence of vitamin D deficiency and insufficiency were 62 % and 12.94 %, respectively. Deficiency was more common among younger subjects (Organizations (15 ng/ml).Vitamin D deficiency was associated with the lack of sunlight exposure at home, and taking anti-hypertensive medications. The common symptoms in deficiency condition were history of hyperlipidemia, depression, weakness, fatigue, finger tingling, leg cramps, and body and muscle pain. Moreover, LDL-cholesterol serum levels were significantly higher in the vitamin D deficiency group, with a prevalence of 40 %. The symptoms of vitamin D deficiency including depression, weakness, fatigue, tingling, leg cramps and body and muscle pain have been observed in more than 90 % after recruitment and treatment. Therefore, for improving the health and productivity of employees, a routine monitoring system for vitamin D and the other factors should be put in place.

Las tesis de los filósofos del siglo XIII que afirmaron la existencia del intelecto agente

Directory of Open Access Journals (Sweden)

Sellés, Juan Fernando

2008-06-01

Full Text Available In this article we review the statements of relevant philosophers of the XIII^eme century supporting the existence of the human agent intellect. Three groups can be distinguished: I The universal hylemorphism (Alexander of Hales, John de la Rochelle, Mathew of Acquasparta; II The synthesis between the augustinianism and the aristhotelism (Peter Hispanus, Saint Bonaventura, John Peckham; III The purified and advanced aristotelism (Albert the Great, Thomas Aquinas, Ramon Llull.

En este trabajo se revisan las tesis de relevantes filósofos del s. XIII que defendieron la existencia del intelecto agente en el hombre. En el trabajo se dividen en tres grupos a los pensadores: I Los que se suelen encuadrar dentro del llamado hilemorfismo universal (Alejandro de Hales, Juan de la Rochela y Mateo de Acquasparta. II La síntesis entre el agustinismo y el aristotelismo (Pedro Hispano, San Buenaventura, Juan Peckham. III El aristotelismo depurado y proseguido (San Alberto Magno, Sto. Tomás de Aquino, Ramón Llull.

Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.

Science.gov (United States)

Kemp, Kevin; Dey, Rimi; Cook, Amelia; Scolding, Neil; Wilkins, Alastair

2017-08-01

Friedreich's ataxia is an inherited neurological disorder characterised by mitochondrial dysfunction and increased susceptibility to oxidative stress. At present, no therapy has been shown to reduce disease progression. Strategies being trialled to treat Friedreich's ataxia include drugs that improve mitochondrial function and reduce oxidative injury. In addition, stem cells have been investigated as a potential therapeutic approach. We have used siRNA-induced knockdown of frataxin in SH-SY5Y cells as an in vitro cellular model for Friedreich's ataxia. Knockdown of frataxin protein expression to levels detected in patients with the disorder was achieved, leading to decreased cellular viability, increased susceptibility to hydrogen peroxide-induced oxidative stress, dysregulation of key anti-oxidant molecules and deficiencies in both cell proliferation and differentiation. Bone marrow stem cells are being investigated extensively as potential treatments for a wide range of neurological disorders, including Friedreich's ataxia. The potential neuroprotective effects of bone marrow-derived mesenchymal stem cells were therefore studied using our frataxin-deficient cell model. Soluble factors secreted by mesenchymal stem cells protected against cellular changes induced by frataxin deficiency, leading to restoration in frataxin levels and anti-oxidant defences, improved survival against oxidative stress and stimulated both cell proliferation and differentiation down the Schwann cell lineage. The demonstration that mesenchymal stem cell-derived factors can restore cellular homeostasis and function to frataxin-deficient cells further suggests that they may have potential therapeutic benefits for patients with Friedreich's ataxia.

Case report: a 70-year-old man with undiagnosed factor VII deficiency presented with acute ischemic stroke.

Science.gov (United States)

Ip, Hing-Lung; Chan, Anne Yin-Yan; Ng, Kit-Chung; Soo, Yannie Oi-Yan; Wong, Lawrence Ka-Sing

2013-11-01

Factor VII deficiency is an uncommon coagulation disorder that patient usually presents with bleeding diathesis, but thrombotic event has been reported. We report a case of unusual clinical presentation in a patient with undiagnosed factor VII deficiency who presented with acute ischemic stroke. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

4p-5s transitions in In XIII, In XIV and In XV

International Nuclear Information System (INIS)

Carroll, P.K.; Costello, J.T.; O'Sullivan, G.

1986-01-01

The spectrum of an indium plasma produced by a 1.5 J, 25 ns ruby laser was recorded in the XUV. At wavelengths below 100 A, the spectrum is dominated by 4p-5s transitions in a number of ion stages. Many lines arising from 4p 6 4d-4p 5 4d5s, 4p 6 -4p 5 5s and 4p 5 -4p 4 5s transitions in In XIII, In XIV and In XV have been identified by isoelectronic extrapolation and Dirac-Fock calculations. (orig.)

Continuous infusion of recombinant activated factor VII for bleeding control after lobectomy in a patient with inherited factor VII deficiency.

Science.gov (United States)

Miyata, Naoko; Isaka, Mitsuhiro; Kojima, Hideaki; Maniwa, Tomohiro; Takahashi, Shoji; Takamiya, Osamu; Ohde, Yasuhisa

2016-03-01

Inherited factor VII (FVII) deficiency is a rare recessive inherited coagulation disorder with limited available information, especially in patients undergoing major thoracic surgery. In addition, an optimal management strategy for the disease has not been defined. We herein report a case involving a 61-year-old man with asymptomatic FVII deficiency who underwent a right middle and lower lobectomy to treat lung cancer. To the best of our knowledge, the present report is the first to describe the use of recombinant activated FVII continuous infusion for bleeding control after a major thoracic surgery in a patient with inherited FVII deficiency.

Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency.

Science.gov (United States)

Reddy, Manasa; Tawfik, Bernard; Gavva, Chakri; Yates, Sean; De Simone, Nicole; Hofmann, Sandra L; Rambally, Siayareh; Sarode, Ravi

2016-12-01

Thrombosis is known to occur in patients with rare inherited bleeding disorders, usually in the presence of a thrombotic risk factor such as surgery and/or factor replacement therapy, but sometimes spontaneously. We present the case of a 72-year-old African American male diagnosed with congenital factor VII (FVII) deficiency after presenting with ischemic stroke, presumably embolic, in the setting of atherosclerotic carotid artery stenosis. The patient had an international normalized ratio (INR) of 2.0 at presentation, with FVII activity of 6% and normal Extem clotting time in rotational thromboelastometry. He was treated with aspirin (325 mg daily) and clopidogrel (75 mg daily) with no additional bleeding or thrombotic complications throughout his admission. This case provides further evidence that moderate to severe FVII deficiency does not protect against thrombosis. Copyright © 2016 Elsevier Ltd. All rights reserved.

I governi di “popolo” e le istituzioni comunali nella seconda metà del secolo XIII

Directory of Open Access Journals (Sweden)

Enrico Artifoni

2003-12-01

Full Text Available Nella seconda metà del secolo XIII la cultura politica dei governi popolari si esprime in modo articolato e consapevole attraverso molteplici scelte: l’istituzione di organismi collegiali ristretti, la valorizzazione delle forme associative di quartiere o di rione, la “domanda” rivolta al ceto notarile di elaborare forme documentarie adeguate a un assetto istituzionale complesso qual era quello del comune duecentesco.

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

NARCIS (Netherlands)

Borensztajn, K.; Spek, C. A.

2005-01-01

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

Patho-epidemiological study on Genotype-XIII Newcastle disease virus infection in commercial vaccinated layer farms

Directory of Open Access Journals (Sweden)

J. H. Khorajiya

2015-03-01

Full Text Available Aim: The present research work was carried out to study the patho-epidemiological aspects of Genotype-XIII Newcastle disease virus (NDV infection in commercial layer in and around Anand, Gujarat. As the outbreaks have reported in vaccinated flocks, it was felt necessary to study the disease with respect to its changing pathogenicity and relevant aspects. Materials and Methods: The study comprised of patho-epidemiology of Newcastle disease (ND by information collected from different layer farms suffering from the disease in relation to incidence pattern and mortality, duration of mortality, susceptible age, and loss due to production performance. Clinical signs were recorded based on observations. During postmortem, gross lesions were also recorded. For histopathological examination visceral organs according to lesions were collected in 10% formalin and processed slide stained by hematoxylin and eosin for microscopic examination. Cultivation of virus was done in embryonated specific pathogen-free (SPF eggs of 9-11 days and isolation of virus was done for haemagglutination (HA and haemagglutination inhibition (HI test and to identify pathotype of virus by intracerebral pathogenicity index (ICPI test to determine the virulence of virus. The Genotype-XIII NDV was confirmed by F gene sequence and whole genome sequence. Results: During the study mortality due to ND was recorded in 13 layer flocks in spite of routine vaccination, which usually contain Genotype-II strain of virus. The mortality was observed as high as above 50% with an average of 21.21%. The susceptible age for disease was found to be 6-14 weeks. The duration of mortality observed was 23 days. The disease resulted in a significant reduction in body weight, feed intake and drop in egg production. Majority of the outbreaks appeared during extremely hot months of April to June. Greenish diarrhoea was frequently seen in birds that survived early in infection. Mortality continued for 2

[Prevalence of vitamin D deficiency and associated factors in women and newborns in the immediate postpartum period].

Science.gov (United States)

do Prado, Mara Rúbia Maciel Cardoso; Oliveira, Fabiana de Cássia Carvalho; Assis, Karine Franklin; Ribeiro, Sarah Aparecida Vieira; do Prado Junior, Pedro Paulo; Sant'Ana, Luciana Ferreira da Rocha; Priore, Silvia Eloiza; Franceschini, Sylvia do Carmo Castro

2015-01-01

To assess the prevalence of vitamin D deficiency and its associated factors in women and their newborns in the postpartum period. This cross-sectional study evaluated vitamin D deficiency/insufficiency in 226 women and their newborns in Viçosa (Minas Gerais, BR) between December 2011 and November 2012. Cord blood and venous maternal blood were collected to evaluate the following biochemical parameters: vitamin D, alkaline phosphatase, calcium, phosphorus and parathyroid hormone. Poisson regression analysis, with a confidence interval of 95% was applied to assess vitamin D deficiency and its associated factors. Multiple linear regression analysis was performed to identify factors associated with 25(OH)D deficiency in the newborns and women from the study. The criteria for variable inclusion in the multiple linear regression model was the association with the dependent variable in the simple linear regression analysis, considering p<0.20. Significance level was α<5%. From 226 women included, 200 (88.5%) were 20 to 44 years old; the median age was 28 years. Deficient/insufficient levels of vitamin D were found in 192 (85%) women and in 182 (80.5%) neonates. The maternal 25(OH)D and alkaline phosphatase levels were independently associated with vitamin D deficiency in infants. This study identified a high prevalence of vitamin D deficiency and insufficiency in women and newborns and the association between maternal nutritional status of vitamin D and their infants' vitamin D status. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

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. ...

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

DEFF Research Database (Denmark)

Schejbel, L; Schmidt, I M; Kirchhoff, Eva Maria

2011-01-01

Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child...

Factor XI Deficiency Alters the Cytokine Response and Activation of Contact Proteases during Polymicrobial Sepsis in Mice.

Directory of Open Access Journals (Sweden)

Charles E Bane

Full Text Available Sepsis, a systemic inflammatory response to infection, is often accompanied by abnormalities of blood coagulation. Prior work with a mouse model of sepsis induced by cecal ligation and puncture (CLP suggested that the protease factor XIa contributed to disseminated intravascular coagulation (DIC and to the cytokine response during sepsis. We investigated the importance of factor XI to cytokine and coagulation responses during the first 24 hours after CLP. Compared to wild type littermates, factor XI-deficient (FXI-/- mice had a survival advantage after CLP, with smaller increases in plasma levels of TNF-α and IL-10 and delayed IL-1β and IL-6 responses. Plasma levels of serum amyloid P, an acute phase protein, were increased in wild type mice 24 hours post-CLP, but not in FXI-/- mice, supporting the impression of a reduced inflammatory response in the absence of factor XI. Surprisingly, there was little evidence of DIC in mice of either genotype. Plasma levels of the contact factors factor XII and prekallikrein were reduced in WT mice after CLP, consistent with induction of contact activation. However, factor XII and PK levels were not reduced in FXI-/- animals, indicating factor XI deficiency blunted contact activation. Intravenous infusion of polyphosphate into WT mice also induced changes in factor XII, but had much less effect in FXI deficient mice. In vitro analysis revealed that factor XIa activates factor XII, and that this reaction is enhanced by polyanions such polyphosphate and nucleic acids. These data suggest that factor XI deficiency confers a survival advantage in the CLP sepsis model by altering the cytokine response to infection and blunting activation of the contact (kallikrein-kinin system. The findings support the hypothesis that factor XI functions as a bidirectional interface between contact activation and thrombin generation, allowing the two processes to influence each other.

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

LENUS (Irish Health Repository)

Suibhne, Treasa Nic

2012-03-01

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

Retinal venous thrombosis in a young patient with coagulation factor XII deficiency.

Science.gov (United States)

Borrego-Sanz, L; Santos-Bueso, E; Sáenz-Francés, F; Martínez-de-la-Casa, J M; García-Feijoo, J; Gegúndez-Fernández, J A; García-Sánchez, J

2014-08-01

A 35-year-old woman, with no relevant medical history, was referred for sudden vision loss in the left eye. Ophthalmological examination showed best corrected visual acuity of 1.0 in the right eye and 0.3 in left eye, with normal anterior pole and intraocular pressure. Fundus examination of the left eye revealed a venous thrombosis in the superior temporal branch, with dilated and tortuous retinal veins. The patient was referred to the hematology unit for thrombophilia study, and was diagnosed with a coagulation XII or Hageman factor deficiency. The development of retinal vessel occlusions, in patients under 50 years of age, is frequently associated with thrombophilia or hypercoagulability disorders. Factor XII deficiency is a rare condition, and its presence could contribute to a higher risk of thromboembolic events. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

Iron-Deficiency Anemia

Medline Plus

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

Prevalence and risk factors of vitamin D deficiency in patients with widespread musculoskeletal pain

Directory of Open Access Journals (Sweden)

Muharrem Çidem

2013-12-01

Full Text Available Objective: Vitamin D deficiency is a worldwide common health problems. Vitamin D deficiency in adults has been associated with proximal muscle weakness, skeletal mineralization defect, and an increased risk of falling. Patients with vitamin D deficiency commonly complain of widespread pain in the body. The aim of this study was to examine the prevalence and risk factors of 25-hydroxyvitamin D deficiency in patients complaining of widespread musculoskeletal pain. Methods: In this cross-sectional study, 8457 patients with widespread musculoskeletal pain (7772 females, 685 males, aged 46.7 (range 20-100 years were included. Serum 25-hydroxyvitamin D was measured with ELISA method. Patients were classified into two groups: 1 Patients with vitamin D deficiency (20 ng/ml. Results: Prevalence of vitamin D deficiency was found to be 71.7%. A binary logistic regression model showed that low 25(OHVit D level was associated with gender, age and month in which 25(OH hypovitaminosis was determined. The risk of low 25(OH Vit D was found to be 2.15 times higher in female patients and 1.52 times higher on March and 1.55 times higher on April. Conclusion: This study indicates that Vitamin D deficiency should be taken into consideration in patients with widespread musculoskeletal pain, and some precautions such as sunbathe during summer should be recommended patients having risk of vitamin D deficiency. J Clin Exp Invest 2013; 4 (4: 48-491

L'escriptura i el llibre a la Catalunya Central als segles XIII i XIV

OpenAIRE

Torras i Cortina, Miquel

2004-01-01

Consultable des del TDX Títol obtingut de la portada digitalitzada Aquesta investigació reconstrueix la vida cultural de la ciutat de Manresa, a la Catalunya Central, al llarg dels segles XIII i XIV, amb el còdex baixmedieval com a fil conductor. L'estudi es basa en l'anàlisi de 305 documents amb mencions libràries (editats conjuntament), pràcticament tots ells inèdits, que procedeixen d'un buidatge exhaustiu dels fons notarials que custodien l'Arxiu Històric Comarcal de Manresa i l'Arx...

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

Science.gov (United States)

Pfäffle, R; Klammt, J

2011-02-01

The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its major components--growth hormone--is produced by the anterior lobe of the pituitary, which also expresses and secretes five additional hormones (prolactin, thyroid stimulating hormone, follicle stimulating hormone, luteinizing hormone, adrenocorticotropic hormone). Proper development of the pituitary assures the regulation of critical processes such as metabolic control, puberty and reproduction, stress response and lactation. Ontogeny of the adenohypophysis is orchestrated by inputs from neighbouring tissues, cellular signalling molecules and transcription factors. Perturbation of expression or function of these factors has been implicated in the aetiology of combined pituitary hormone deficiency (CPHD). Mutations within the genes encoding for the transcription factors LHX3, LHX4, PROP1, and POU1F1 (PIT1) that act at different stages of pituitary development result in unique patterns of hormonal deficiencies reflecting their differential expression during organogenesis. In the case of LHX3 and LHX4 the phenotype may include extra-pituitary manifestations due to the function of these genes/proteins outside the pituitary gland. The remarkable variability in the clinical presentation of affected patients indicates the influence of the genetic background, environmental factors and possibly stochastic events. However, in the majority of CPHD cases the aetiology of this heterogeneous disease remains unexplained, which further suggests the involvement of additional genes. Identification of these factors might also help to close the gaps in our understanding of pituitary development, maintenance and function. Copyright © 2010 Elsevier Ltd. All rights reserved.

Proceedings of the XIII International Symposium on Biological Control of Weeds; September 11-16, 2011; Waikoloa, Hawaii, USA

Science.gov (United States)

Yun Wu; Tracy Johnson; Sharlene Sing; S. Raghu; Greg Wheeler; Paul Pratt; Keith Warner; Ted Center; John Goolsby; Richard Reardon

2013-01-01

A total of 208 participants from 78 organizations in 19 countries gathered at the Waikoloa Beach Marriott on the Big Island of Hawaii on September 11-16, 2011 for the XIII International Symposium on Biological Control of Weeds. Following a reception on the first evening, Symposium co-chairs Tracy Johnson and Pat Conant formally welcomed the attendees on the morning of...

Human conditions of insulin-like growth factor-I (IGF-I) deficiency

Science.gov (United States)

2012-01-01

Insulin-like growth factor I (IGF-I) is a polypeptide hormone produced mainly by the liver in response to the endocrine GH stimulus, but it is also secreted by multiple tissues for autocrine/paracrine purposes. IGF-I is partly responsible for systemic GH activities although it possesses a wide number of own properties (anabolic, antioxidant, anti-inflammatory and cytoprotective actions). IGF-I is a closely regulated hormone. Consequently, its logical therapeutical applications seems to be limited to restore physiological circulating levels in order to recover the clinical consequences of IGF-I deficiency, conditions where, despite continuous discrepancies, IGF-I treatment has never been related to oncogenesis. Currently the best characterized conditions of IGF-I deficiency are Laron Syndrome, in children; liver cirrhosis, in adults; aging including age-related-cardiovascular and neurological diseases; and more recently, intrauterine growth restriction. The aim of this review is to summarize the increasing list of roles of IGF-I, both in physiological and pathological conditions, underlying that its potential therapeutical options seem to be limited to those proven states of local or systemic IGF-I deficiency as a replacement treatment, rather than increasing its level upper the normal range. PMID:23148873

Human conditions of insulin-like growth factor-I (IGF-I deficiency

Directory of Open Access Journals (Sweden)

Puche Juan E

2012-11-01

Full Text Available Abstract Insulin-like growth factor I (IGF-I is a polypeptide hormone produced mainly by the liver in response to the endocrine GH stimulus, but it is also secreted by multiple tissues for autocrine/paracrine purposes. IGF-I is partly responsible for systemic GH activities although it possesses a wide number of own properties (anabolic, antioxidant, anti-inflammatory and cytoprotective actions. IGF-I is a closely regulated hormone. Consequently, its logical therapeutical applications seems to be limited to restore physiological circulating levels in order to recover the clinical consequences of IGF-I deficiency, conditions where, despite continuous discrepancies, IGF-I treatment has never been related to oncogenesis. Currently the best characterized conditions of IGF-I deficiency are Laron Syndrome, in children; liver cirrhosis, in adults; aging including age-related-cardiovascular and neurological diseases; and more recently, intrauterine growth restriction. The aim of this review is to summarize the increasing list of roles of IGF-I, both in physiological and pathological conditions, underlying that its potential therapeutical options seem to be limited to those proven states of local or systemic IGF-I deficiency as a replacement treatment, rather than increasing its level upper the normal range.

TDRP deficiency contributes to low sperm motility and is a potential risk factor for male infertility.

Science.gov (United States)

Mao, Shanhua; Wu, Fei; Cao, Xinyi; He, Min; Liu, Naijia; Wu, Huihui; Yang, Zhihong; Ding, Qiang; Wang, Xuanchun

2016-01-01

TDRP (Testis Development-Related Protein), a nuclear factor, might play an important role in spermatogenesis. However, the molecular mechanisms of TDRP underlying these fundamental processes remain elusive. In this study, a Tdrp-deficient mouse model was generated. Fertility tests and semen analysis were performed. Tdrp-deficient mice were not significantly different from wild-type littermates in development of testes, genitourinary tract, or sperm count. Morphologically, spermatozoa of the Tdrp-deficient mice was not significantly different from the wild type. Several sperm motility indexes, i.e. the average path velocity (VAP), the straight line velocity (VSL) and the curvilinear velocity (VCL) were significantly decreased in Tdrp-deficient mice (psperm also increased significantly in the mutant mice (psperm motility, but Tdrp deficiency alone was not sufficient to cause male infertility in mice. Additionally, TDRP1 might participate in spermatogenes is through interaction with PRM2.

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....

Genotype/phenotype correlations in complement factor h deficiency arising from uniparental isodisomy

DEFF Research Database (Denmark)

Wilson, Valerie; Darlay, Rebecca; Wong, William

2013-01-01

We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of th...

Decreased Lumbar Lordosis and Deficient Acetabular Coverage Are Risk Factors for Subchondral Insufficiency Fracture.

Science.gov (United States)

Jo, Woo Lam; Lee, Woo Suk; Chae, Dong Sik; Yang, Ick Hwan; Lee, Kyoung Min; Koo, Kyung Hoi

2016-10-01

Subchondral insufficiency fracture (SIF) of the femoral head occurs in the elderly and recipients of organ transplantation. Osteoporosis and deficient lateral coverage of the acetabulum are known risk factors for SIF. There has been no study about relation between spinopelvic alignment and anterior acetabular coverage with SIF. We therefore asked whether a decrease of lumbar lordosis and a deficiency in the anterior acetabular coverage are risk factors. We investigated 37 patients with SIF. There were 33 women and 4 men, and their mean age was 71.5 years (59-85 years). These 37 patients were matched with 37 controls for gender, age, height, weight, body mass index and bone mineral density. We compared the lumbar lordosis, pelvic incidence, pelvic tilt, sacral slope, acetabular index, acetabular roof angle, acetabular head index, anterior center-edge angle and lateral center-edge angle. Lumbar lordosis, pelvic tilt, sacral slope, lateral center edge angle, anterior center edge angle, acetabular index and acetabular head index were significantly different between SIF group and control group. Lumbar lordosis (OR = 1.11), lateral center edge angle (OR = 1.30) and anterior center edge angle (OR = 1.27) had significant associations in multivariate analysis. Decreased lumbar lordosis and deficient anterior coverage of the acetabulum are risk factors for SIF as well as decreased lateral coverage of the acetabulum.

Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology.

Science.gov (United States)

Pfeiffer, Caroline; Mathieu-Dupas, Eve; Logghe, Pauline; Lissalde-Lavigne, Géraldine; Balicchi, Julien; Caliskan, Umran; Valentin, Thomas; Laune, Daniel; Molina, Franck; Schved, Jean François; Giansily-Blaizot, Muriel

2016-05-01

While the immune response to hemophilic factors in hemophilia has been widely studied, little is known about the development of anti-Factor VII (FVII) antibodies in FVII deficiency. We developed a robust technique based on the x-MAP technology to detect the presence of antibodies against FVII and characterize their isotype and validated this method using blood samples from 100 patients with FVII deficiency (median FVII clotting activity [FVII:C]: 6%) and 95 healthy controls. Anti-FVII antibodies were detected in patients but also in some controls, although the concentration of total immunoglobulin G (IgGt) and IgG1 and IgG4 subclasses was significantly different between groups. The IgG1 subclass concentrations remained significantly different also when only untreated patients were compared with controls. This difference could partially be related to the F7 genotype, particularly in patients harboring the p.Arg139Gln mutation. This x-MAP-based method might be useful for assessing the immunogenicity of novel FVII compounds and of activated FVII (FVIIa) concentrates. Further prospective studies are needed to better understand the clinical relevance of these antibodies in the management of patients with FVII deficiency. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

Pawlak, Roman

2015-06-01

The goal of this paper is to describe the role of vitamin B12 deficiency in cardiovascular disease development among vegetarians. Vegetarians have a high prevalence of vitamin B12 deficiency. Deficiency of this vitamin is associated with a variety of atherogenic processes that are mainly, but not exclusively, due to vitamin B12 deficiency-induced hyperhomocysteinemia. Each 5-μmol/L increase above 10 μmol/L of serum homocysteine is associated with a 20% increased risk of circulatory health problems. Mean homocysteine concentration >10 μmol/L among vegetarians was reported in 32 of 34 reports. Macrocytosis associated with vitamin B12 deficiency is also associated with fatal and non-fatal coronary disease, myocardial infarction, stroke, and other circulatory health problems. Compared with non-vegetarians, vegetarians have an improved profile of the traditional cardiovascular disease risk factors, including serum lipids, blood pressure, serum glucose concentration, and weight status. However, not all studies that assessed cardiovascular disease incidence among vegetarians reported a protective effect. Among studies that did show a lower prevalence of circulatory health problems, the effect was not as pronounced as expected, which may be a result of poor vitamin B12 status due to a vegetarian diet. Vitamin B12 deficiency may negate the cardiovascular disease prevention benefits of vegetarian diets. In order to further reduce the risk of cardiovascular disease, vegetarians should be advised to use vitamin B12 supplements. Copyright © 2015 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Kinerja Uptd dalam Pengelolaan Objek Wisata Candi Muara Takus Kecamatan XIII Koto Kampar Kabupaten Kampar

OpenAIRE

Rusli. SD, Zaili; Dewi, Marta

2016-01-01

Based on interviews and observations at the resort, there is found a phenomenon that occurs : (a) The main duties of UPTD in resort areaa of Muara Takus Tempel at XIII Koto Kampar has not been done entirely properly, (b) Many programs that have been created by UPTD inresort areas of Muara Takus Tempel was not implemented, (c) The employees in the UPTD is stiil lacking so it is affecting the main duties to be carried out properly. The aim of this study was to determine how the performance of U...

Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

Science.gov (United States)

Kuperman, A A; Barg, A A; Fruchtman, Y; Shaoul, E; Rosenberg, N; Kenet, G; Livnat, T

2017-09-01

Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed. Clinical follow up and monitoring laboratory assays, including thrombin generation, measured at various time points after prophylactic rFVIIa administration are presented. Among our treated patients neither FVII activity nor thrombin generation parameters (both already declined 24h post rFVIIa administration) were able to predict the impact of prophylaxis, and could not be used as surrogate markers in order to assess the most beneficial treatment frequency. However, the long clinical follow-up and comprehensive laboratory assessment performed, have shown that early primary prophylaxis as administered in our cohort was safe and effective. Copyright © 2016 Elsevier Inc. All rights reserved.

Use of global assays to understand clinical phenotype in congenital factor VII deficiency.

Science.gov (United States)

Greene, L A; Goldenberg, N A; Simpson, M L; Villalobos-Menuey, E; Bombardier, C; Acharya, S S; Santiago-Borrero, P J; Cambara, A; DiMichele, D M

2013-09-01

Congenital factor VII (FVII) deficiency is characterized by genotypic variability and phenotypic heterogeneity. Traditional screening and factor assays are unable to reliably predict clinical bleeding phenotype and guide haemorrhage prevention strategy. Global assays of coagulation and fibrinolysis may better characterize overall haemostatic balance and aid in haemorrhagic risk assessment. We evaluated the ability of novel global assays to better understand clinical bleeding severity in congenital FVII deficiency. Subjects underwent central determination of factor VII activity (FVII:C) as well as clot formation and lysis (CloFAL) and simultaneous thrombin and plasmin generation (STP) global assay analysis. A bleeding score was assigned to each subject through medical chart review. Global assay parameters were analysed with respect to bleeding score and FVII:C. Subgroup analyses were performed on paediatric subjects and subjects with FVII ≥ 1 IU dL(-1). CloFAL fibrinolytic index (FI2 ) inversely correlated with FVII:C while CloFAL maximum amplitude (MA) and STP maximum velocity of thrombin generation (VT max) varied directly with FVII:C. CloFAL FI2 directly correlated with bleeding score among subjects in both the total cohort and paediatric subcohort, but not among subjects with FVII ≥ 1 IU dL(-1) . Among subjects with FVII ≥ 1 IU dL(-1), STP time to maximum velocity of thrombin generation and time to maximum velocity of plasmin generation inversely correlated with bleeding score. These preliminary findings suggest a novel potential link between a hyperfibrinolytic state in bleeding severity and congenital FVII deficiency, an observation that should be further explored. © 2013 John Wiley & Sons Ltd.

Prevalence and demographic factors associated with vitamin A deficiency in Colombian children aged 12-59 months.

Science.gov (United States)

Martínez-Torres, Javier; Meneses-Echavéz, José F; Ramírez-Vélez, Robinson

2014-11-01

To examine the sociodemographic factors associated with subclinical vitamin A deficiency in a representative sample of Colombian children. Subjects and methods A cross-sectional, descriptive study was conducted of data from the 2010 National Nutrition Survey of Colombia (ENSIN 2010) on 4,279 children aged 12 to 59 months. Plasma vitamin A levels were measured using high resolution liquid chromatography (HRLC), and sociodemographic factors (sex, age, ethnicity, SISBEN score, and geographic region) were collected using a structured survey. Prevalence rates and associations were established using a multivariate regression model. Vitamin A levels ranged from 7.5-93.7 μg/dL (mean=26.2; 95% CI, 25.9 to 26.5μg/dL). Vitamin A levels less than 20 μg/dL (subclinical deficiency) were found in 24.3% of children. Children belonging to ethnic groups of African ascent, those living in the Orinoquia and Amazonia regions, and those aged 12-23 months had the greatest subclinical vitamin A deficiencies (29.5%, 31.1%, and 27.6% respectively. Regression models showed that age ranging from 12 and 23 months (OR 1.32; 95% CI, 1.01 to 1.73), a SISBEN score 1 (OR 1.66; 95% CI, 1.18 to 2.34), an African ascent (OR 1.35; 95% CI, 1.05 to 1.74), and living in the Orinoquia and Amazonia regions (OR 2.38; 95% CI, 1.62 to 3.51) were factors associated to subclinical vitamin A deficiency. The study population shows a high prevalence of subclinical vitamin A deficiency, and comprehensive interventions involving nutritional and educational components are therefore recommended. Copyright © 2014 SEEN. Published by Elsevier Espana. All rights reserved.

Il fenomeno abachistico a supporto dei cambiamenti socio-economici: Arezzo tra il XIII ed il XVI secolo = The role of the abacus tradition for the economic and social development of the society: evidence from Tuscany (Italy between XIII and XVI century

Directory of Open Access Journals (Sweden)

Maria Pia Maraghini

2011-12-01

Full Text Available Este artículo indaga sobre los orígenes de la contabilidad con el objetivo de analizar el comportamiento económico. En particular, se examinan los primeros lugares específica-mente dispuestos y organizados para la enseñanza del conocimiento contable así como los medios de estudio para su transmisión: las escuelas y los libros de ábaco. Ampliamente extendidos en Italia entre los siglos XIII y XVI tenían la finalidad de transmitir, por un lado, el conocimiento generalmente difundido como matemática práctica y, por otro, las técnicas para realizar operaciones aritméticas y las reglas prácticas para la resolución de problemas comerciales y financieros.El objetivo de esta investigación es profundizar en el estudio de las escuelas y de los libros de ábaco evidenciando el papel desempeñado en el origen de la contabilidad y en el desarrollo económico y social en la época medieval y los primeros siglos del Renacimiento.Con este fin, el estudio se basa en algunas evidencias sobre la evolución de los estudios y las escuelas de ábaco en Arezzo (Toscana, Italia entre los siglos XIII y XVI. Combinando evidencias similares con el análisis teórico el estudio revela la contribución de la tradición del ábaco en el mejor desarrollo de la vida pública en época medieval y renacentista. La constatación de esta contribución ha sido la base del creciente interés mostrado hacia la cultura del ábaco por las autoridades locales de la época.This paper focuses on the “origins” of the book-keeping art which aims to record economic behaviour. In particular, this research investigates the early specific “places” arranged and organized to teach the accounting knowledge and the primitive “means” of study with which it could be handed over: the abacus schools and books. They prevalently spread in Italy between XIII and XVI century with the aim of transferring the knowledge generally defined as “practical maths”, such as the

Iron-Deficiency Anemia

Medline Plus

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

A case presenting concurrence of Marfan syndrome, Basedow's disease and Arg353Gln polymorphism-related factor VII deficiency.

Science.gov (United States)

Tanaka, Kotoko; Seino, Yoshihiko; Inokuchi, Koiti; Ohmura, Kazuko; Kobayashi, Yoshinori; Takano, Teruo

2005-02-15

We report the case of a 48-year-old Japanese man who suffered from Marfan syndrome with severe aortic regurgitation, mitral regurgitation and rapid atrial fibrillation, which were aggravated by hyperdynamic circulatory conditions associated with coexistent Basedow's disease. Furthermore, concurrence of Arg353Gln polymorphism-related factor VII deficiency was discovered at the preoperative assessments. Both of his two brothers suffered from Marfan syndrome; however they had no findings of Arg353Glu polymorphism-related factor VII deficiency or Basedow's disease. After normalization of thyroid function, he had successfully the operations of Bentall procedure: a composite prosthetic graft: replacement of both the ascending aorta and aortic valve, and mitral valve annuloplasty. No specific therapy such as fresh frozen plasma or factor VII replacement therapy was required. He completely returned to his business work 6 weeks after the operation. Concurrence of Marfan syndrome and factor VII deficiency induced by two-hit genomic abnormalities and furthermore Basedow's disease, which significantly compromised the pathophysiological condition of Marfan syndrome, is extremely rare.

Gestión odontológica en los niveles de la educación básica regular en la UGEL 01 Papa León XIII - Chilca, 2015

OpenAIRE

Cornejo Serna, Manuel Elias

2016-01-01

El objetivo del presente trabajo de investigación es determinar nivel de percepción de la gestión odontológica en los niveles de la educación básica regular, en la UGEL 01, Papa León XIII - Chilca, 2015. El tipo de investigación es descriptiva y comparativa su diseño de la investigación fue de tipo no experimental de corte transversal. La población estuvo conformada por los padres de familia de la institución educativa de Papa León XIII de los niveles de educación básica reg...

Testing the hypothesis that vitamin C deficiency is a risk factor for clozapine-induced agranulocytosis using guinea pigs and ODS rats.

Science.gov (United States)

Ip, Julia; Wilson, John X; Uetrecht, Jack P

2008-04-01

The use of clozapine is limited by a relatively high incidence of drug-induced agranulocytosis. Clozapine is oxidized by bone marrow cells to a reactive nitrenium ion. Although many idiosyncratic drug reactions are immune-mediated, the fact that patients with a history of clozapine-induced agranulocytosis do not immediately develop agranulocytosis on rechallenge suggests that some other factor may be responsible for the idiosyncratic nature of this reaction. The reactive nitrenium ion is very rapidly reduced back to clozapine by vitamin C, and many schizophrenic patients are vitamin C deficient. We set out to test the hypothesis that vitamin C deficiency is a major risk factor for clozapine-induced agranulocytosis using a vitamin C deficient guinea pig model. Although the vitamin C deficient guinea pigs did not develop agranulocytosis, the amount of clozapine covalent binding in these animals was less than we had previously observed in samples from rats and humans. Therefore, we studied ODS rats that also cannot synthesize vitamin C. Vitamin C deficient ODS rats also did not develop agranulocytosis, and furthermore, although covalent binding in the bone marrow was greater than that in the guinea pig, it was not increased in the vitamin C deficient ODS rats relative to ODS rats that had adequate vitamin C in their diet. Therefore, it is very unlikely that vitamin C deficiency is a major risk factor for clozapine-induced agranulocytosis.

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

Science.gov (United States)

Napolitano, M; Di Minno, M N D; Batorova, A; Dolce, A; Giansily-Blaizot, M; Ingerslev, J; Schved, J-F; Auerswald, G; Kenet, G; Karimi, M; Shamsi, T; Ruiz de Sáez, A; Dolatkhah, R; Chuansumrit, A; Bertrand, M A; Mariani, G

2016-09-01

A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed. In our cohort (N = 449; 215 male, 234 female), the higher prevalence of mucocutaneous bleeds in females strongly predicted ensuing gynaecological bleeding (hazard ratio = 12.8, 95% CI 1.68-97.6, P = 0.014). Menorrhagia was the most prevalent type of bleeding (46.4% of patients), and was the presentation symptom in 12% of cases. Replacement therapies administered were also analysed. For surgical procedures (n = 50), a receiver operator characteristic analysis showed that the minimal first dose of rFVIIa to avoid postsurgical bleeding during the first 24 hours was 22 μg kg(-1) , and no less than two administrations. Prophylaxis was reported in 25 women with excellent or effective outcomes when performed with a total weekly rFVIIa dose of 90 μg kg(-1) (divided as three doses). Women with FVII deficiency have a bleeding disorder mainly characterized by mucocutaneous bleeds, which predicts an increased risk of ensuing gynaecological bleeding. Systematic replacement therapy or long-term prophylaxis with rFVIIa may reduce the impact of menorrhagia on the reproductive system, iron loss and may avoid unnecessary hysterectomies. © 2016 John Wiley & Sons Ltd.

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

Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.

Science.gov (United States)

Wolf, Myles; White, Kenneth E

2014-07-01

High levels of fibroblast growth factor 23 (FGF23) cause the rare disorders of hypophosphatemic rickets and are a risk factor for cardiovascular disease and death in patients with chronic kidney disease (CKD). Despite major advances in understanding FGF23 biology, fundamental aspects of FGF23 regulation in health and in CKD remain mostly unknown. Autosomal dominant hypophosphatemic rickets (ADHR) is caused by gain-of-function mutations in FGF23 that prevent its proteolytic cleavage, but affected individuals experience a waxing and waning course of phosphate wasting. This led to the discovery that iron deficiency is an environmental trigger that stimulates FGF23 expression and hypophosphatemia in ADHR. Unlike osteocytes in ADHR, normal osteocytes couple increased FGF23 production with commensurately increased FGF23 cleavage to ensure that normal phosphate homeostasis is maintained in the event of iron deficiency. Simultaneous measurement of FGF23 by intact and C-terminal assays supported these breakthroughs by providing minimally invasive insight into FGF23 production and cleavage in bone. These findings also suggest a novel mechanism of FGF23 elevation in patients with CKD, who are often iron deficient and demonstrate increased FGF23 production and decreased FGF23 cleavage, consistent with an acquired state that mimics the molecular pathophysiology of ADHR. Iron deficiency stimulates FGF23 production, but normal osteocytes couple increased FGF23 production with increased cleavage to maintain normal circulating levels of biologically active hormone. These findings uncover a second level of FGF23 regulation within osteocytes, failure of which culminates in elevated levels of biologically active FGF23 in ADHR and perhaps CKD.

Pharmacodynamics of recombinant activated factor VII and plasma-derived factor VII in a cohort of severe FVII deficient patients.

Science.gov (United States)

van Geffen, Mark; Mathijssen, Natascha C J; Holme, Pål A; Laros-van Gorkom, Britta A P; van Kraaij, Marian G J; Masereeuw, Roselinde; Peyvandi, Flora; van Heerde, Waander L

2013-07-01

Recombinant activated factor VII (rFVIIa) and plasma-derived factor VII (pdFVII) are used to prevent bleedings in severe FVII deficient patients, despite their short half-lifes. It is suggested that FVII levels of 15-20 IU/dL are sufficient to maintain hemostasis. We analyzed the pharmacodynamic effects of FVII substitution therapy in the Nijmegen Hemostasis Assay (NHA) that simultaneously measures thrombin and plasmin generation. Ten severe FVII deficient patients were treated with 20 μg/kg rFVIIa or 25 IU/kg pdFVII in a cross-over design. Thrombin generation lag-time (TG-LT) was identified as an effect-response parameter. Pharmacodynamic analysis using a maximum effect model showed 50% reduction of the TG-LT effect at ~2 IU/dL FVII activity for both rFVIIa and pdFVII. The FVII activity to obtain TG-LT comparable to the upper limit of normal range in healthy controls (4 min) was given by the effective concentration (ECnormal), showing sufficient hemostasis at 3-4 IU/dL FVII activity. No association was seen between FVII activity and other thrombin or plasmin generation parameters as measured by NHA. In conclusion, 3-4 IU/dL FVII activity seems sufficient to maintain hemostasis in patients with severe FVII deficiency during prophylaxis. These data may suggest a potential value for measurement of TG-LT in the monitoring of FVII(a) therapy. Copyright © 2013 Elsevier Ltd. All rights reserved.

The correlation of prenatal zinc concentration and deficiency with anthropometric factors.

Directory of Open Access Journals (Sweden)

Parichehr Hanachi

2014-03-01

Full Text Available To determine the status of serum zinc in pregnant women in different gestational ages and correlation with socio-demographic and anthropometric factors in Iranian women referring to prenatal care public health clinics.We analyzed the zinc concentrations in plasma samples obtained at different gestational ages from 961 women and recorded BMI at the first trimester in pregnant women who were screened for a trial designed to evaluate the zinc concentration. Subjects were from different socio economical backgrounds and attended public health clinics for their prenatal care. All analyses were performed by SPSS (version 16. P values < 0.05 were considered significant.The results showed that after plasma zinc concentrations were adjusted with Parity, weight (early pregnancy, BMI (at early pregnancy, age and educational statues. Plasma zinc deficiency declined as gestational age progressed, however it was not significant. There was no significant correlation between zinc concentration, anthropometric, method of contraception and socio factors. However, there were significant relation between parity (p = 0.007 and weight at early pregnancy (p= 0.039 with serum zinc levels.We conclude that plasma zinc concentrations decreased during the late first trimester to the early third trimester and with parity. These findings may indicate that the deficient levels of zinc in the latter third of pregnancy suggest a tendency for insufficient maternal nutrition. However larger studies are required to support this finding.

Are there anamnestic risk factors for iron deficiency in pregnancy? Results from a feasibility study.

Science.gov (United States)

Kirschner, Wolf; Dudenhausen, Joachim W; Henrich, Wolfgang

2016-04-01

The conditions of iron deficiency are highly incident in pregnancy with elevated risks for preterm birth and low birth weight. In our recent study, we found 6% of participants having anemia, whereas between 39% and 47% showed iron deficiency without anemia. In many countries in prenatal care solely hemoglobin (Hb) measurement is applied. For the gynecologists till date there is no indication to determine other markers (e.g., serum-ferritin). As iron deficiency results from an imbalance between intake and loss of iron, our aim was to find out if the risk of iron deficiency conditions can be estimated by a diet history protocol as well as questionnaires to find about iron loss. We found that the risk of having iron deficiency in upper gestational week (>=21) increased by a factor of five. Thus, additional diagnostics should be done in this group by now. Using the questionnaire as a screening instrument, we further estimated the probability of disease in terms of a positive likelihood ratio (LR+). The positive LR for the group below 21th week of gestation is 1.9 thus, increasing the post-test probability to 52% from 36% as before. Further research based on higher sample sizes will show if the ratios can be increased further.

Comprehensive Behavioral Analysis of Activating Transcription Factor 5-Deficient Mice

Directory of Open Access Journals (Sweden)

Mariko Umemura

2017-07-01

Full Text Available Activating transcription factor 5 (ATF5 is a member of the CREB/ATF family of basic leucine zipper transcription factors. We previously reported that ATF5-deficient (ATF5-/- mice demonstrated abnormal olfactory bulb development due to impaired interneuron supply. Furthermore, ATF5-/- mice were less aggressive than ATF5+/+ mice. Although ATF5 is widely expressed in the brain, and involved in the regulation of proliferation and development of neurons, the physiological role of ATF5 in the higher brain remains unknown. Our objective was to investigate the physiological role of ATF5 in the higher brain. We performed a comprehensive behavioral analysis using ATF5-/- mice and wild type littermates. ATF5-/- mice exhibited abnormal locomotor activity in the open field test. They also exhibited abnormal anxiety-like behavior in the light/dark transition test and open field test. Furthermore, ATF5-/- mice displayed reduced social interaction in the Crawley’s social interaction test and increased pain sensitivity in the hot plate test compared with wild type. Finally, behavioral flexibility was reduced in the T-maze test in ATF5-/- mice compared with wild type. In addition, we demonstrated that ATF5-/- mice display disturbances of monoamine neurotransmitter levels in several brain regions. These results indicate that ATF5 deficiency elicits abnormal behaviors and the disturbance of monoamine neurotransmitter levels in the brain. The behavioral abnormalities of ATF5-/- mice may be due to the disturbance of monoamine levels. Taken together, these findings suggest that ATF5-/- mice may be a unique animal model of some psychiatric disorders.

Long-term prophylaxis in severe factor VII deficiency.

Science.gov (United States)

Siboni, S M; Biguzzi, E; Mistretta, C; Garagiola, I; Peyvandi, F

2015-11-01

The spectrum of bleeding problems in FVII deficiency is highly variable and FVII levels and causative genetic mutations correlate poorly with the bleeding risk. Long-term prophylaxis is generally initiated in order to prevent subsequent CNS bleeding after a first event or in patients with other major/ life threatening/ frequent bleeding symptoms as gastrointestinal bleeding or hemarthrosis. However few data are available in the literature regarding FVII prophylaxis and clinical decisions cannot be based on evidence. We report the data available in the literature on FVII prophylaxis and our personal experience regarding three patients affected by severe FVII deficiency. Specific papers on long-term prophylaxis in severe FVII deficiency were identified using the database, PUBMED. The most frequent indications for long-term prophylaxis were CNS bleeding (58%), hemartrosis (15%) and GI bleeding (9%). Patients were treated with various dosages and frequency. Prophylactic treatment with 10-30U/kg (pdFVII) or 20-30mcg/kg (rFVIIa) twice or three times/weeks was described to be effective. In the literature and in our experience, prophylaxis can be considered in patients with severe FVII deficiency and severe bleeding phenotype. A dose of 10-30U/kg (pdFVII) or 20-30 microg/kg (rFVIIa) twice or three times/week is usually administrated, but dose and frequency can be tailored based on the clinical follow-up of the patients. Since hemarthrosis is a frequent manifestation, a suggestion to improve the outcomes of patients with severe FVII deficiency is to monitor joint condition in order to identify early arthropathy that could be another indication to start secondary prophylaxis. © 2015 John Wiley & Sons Ltd.

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency.

Science.gov (United States)

Borhany, M; Boijout, H; Pellequer, J-L; Shamsi, T; Moulis, G; Aguilar-Martinez, P; Schved, J-F; Giansily-Blaizot, M

2013-11-01

Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients are still scarcely explored in Pakistan although rare bleeding disorders became quite common as a result of traditional consanguineous marriages. The aim of the study was to give a first insight of F7 gene mutations in Pakistani population. Ten unrelated FVII-deficient patients living in Pakistan were investigated (median FVII:C = 2%; range = 2-37%). A clinical questionnaire was filled out for each patient and direct sequencing was performed on the coding regions, intron/exon boundaries and 5' and 3' untranslated regions of the F7 gene. Nine different mutations (eight missense mutations and one located within the F7 promoter) were identified on the F7 gene. Five of them were novel (p.Cys82Tyr, p.Cys322Ser, p.Leu357Phe, p.Thr410Ala, c-57C>T, the last being predicted to alter the binding site of transcription factor HNF-4). Half of the patients had single mutations in Cys residues involved in disulfide bridges. The p.Cys82Arg mutation was the most frequent in our series. Six of seven patients with FVII:C levels below 10% were homozygous in connection with the high percentage of consanguinity in our series. In addition, we graded the 10 patients according to three previously published classifications for rare bleeding disorders. The use of the bleeding score proposed by Tosetto and co-workers in 2006 appears to well qualify the bleeding tendency in our series. © 2013 John Wiley & Sons Ltd.

Potential human factors deficiencies in the design of local control stations and operator interfaces in nuclear power plants

International Nuclear Information System (INIS)

Hartley, C.S.; Levy, I.S.; Fecht, B.A.

1984-04-01

The Pacific Northwest Laboratory has completed a project to identify human factors deficiencies in safety-significant control stations outside the control room of a nuclear power plant and to determine whether NUREG-0700, Guidelines for Control Room Design Reviews, would be sufficient for reviewing those local control stations (LCSs). The project accomplished this task by first, reviewing existing data pertaining to human factors deficiencies in LCSs involved in significant safety actions; second, surveying LCSs environments and design features at several operating nuclear power plants; and third, assessing the results of that survey relative to the contents of NUREG-0700

Do deficiencies in growth hormone and insulin-like growth factor-1 (IGF-1) shorten or prolong longevity?

Science.gov (United States)

Laron, Zvi

2005-02-01

Present knowledge on the effects of growth hormone (GH) and insulin-like growth factor-I (IGF-I) deficiency on aging and lifespan are controversial. Studying untreated patients with either isolated GH deficiency due to GH gene deletion, patients with multiple pituitary hormone deficiency due to PROP-1 gene mutation and patients with isolated IGF-I deficiency due to deletions or mutations of the GH receptor gene (Laron syndrome); it was found, that these patients despite signs of early aging (wrinkled skin, obesity, insulin resistance and osteopenia) have a long life span reaching ages of 80-90 years. Animal models of genetic GH deficiencies such as Snell mice (Pit-1 gene mutations) the Ames mice (PROP-1 gene mutation) and the Laron mice (GH receptor gene knock-out) have a statistically significant higher longevity compared to normal controls. On the contrary, mice transgenic for GH and acromegalic patients secreting high amounts of GH have premature death. Those data raise the question whether pharmacological GH administration to adults is deleterious, in contrast to policies advocating such therapies.

Effect of iron deficiency on the expression of insulin-like growth factor-II and its receptor in neuronal and glial cells.

Science.gov (United States)

Morales González, E; Contreras, I; Estrada, J A

2014-09-01

Many studies have demonstrated that iron deficiency modifies the normal function of the central nervous system and alters cognitive abilities. When cellular damage occurs in the central nervous system, neuroprotective mechanisms, such as the production of neurotrophic factors, are essential in order for nervous tissue to function correctly. Insulin-like growth factor II (IGF- II) is a neurotrophic factor that was recently shown to be involved in the normal functioning of cognitive processes in animal models. However, the impact of iron deficiency on the expression and function of this molecule has not yet been clarified. Mixed primary cell cultures from the central nervous system were collected to simulate iron deficiency using deferoxamine. The expression of IGF-I, IGF-II, IGF-IR, and IGF-IIR was determined with the western blot test. We observed increased expression of IGF-II, along with a corresponding decrease in the expression of IGF-IIR, in iron-deficient mixed primary cell cultures. We did not observe alterations in the expression of these proteins in isolated microglia or neuronal cultures under the same conditions. We did not detect differences in the expression of IGF-I and IGF-IR in iron-deficient cultures. In vitro iron deficiency increases the expression of IGF-II in mixed glial cell cultures, which may have a beneficial effect on brain tissue homeostasis in a situation in which iron availability is decreased. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

Successful Pregnancy in a Patient with Combined Deficiency of Factor V and Factor VIII.

Science.gov (United States)

El Adib, Ahmed Ghassan; Majdi, Farah; Dilai, Mohamed Othmane; Asmouki, Hamid; Bassir, Ahlam; Harou, Karam; Soumani, Abderraouf; Younous, Said; Mahmal, Lahoucine

2014-01-01

Inherited combined factor V and factor VIII deficiency (F5F8D) is autosomal recessive transmission disorder. Epistaxis, postsurgical bleeding, and menorrhagia are the most common symptoms. The risk of miscarriage and placental abruption is consequent. We report a case of successful pregnancy in a patient with F5F8D. 20-year-old woman, born of consanguineous parents, third gestate, first parity, two miscarriages, admitted for child birth of a spontaneous pregnancy estimated at 38 weeks and was diagnosed with F5F8D. At admission, patient was hemodynamically stable, with good obstetric conditions. The biologic results showed low levels of PT (52%), factor V (7%), and factor VIII (5%), and the activated partial thromboplastin time was prolonged (68,6%). Parturient was admitted in intensive care unit, maternal and fetal monitoring was performed. Fresh frozen plasma (FFP) and factor VIII concentrates were perfused at the induction of labor. Analgesia used fentanyl titration. The delivery gave birth to a newborn male, with Apgar 10/10 and 3000 g. The puerperium was simple without any important bleeding. Laboratory tests for the newborn were acceptable. Little literature is available on this subject and there are no guidelines available concerning pregnancy; we chose to prescribe a combination of factor VIII concentrate and FFP in pre-, per- and postpartum. The same protocol was successfully used in a patient before dental extraction and prostatectomy. Vaginal delivery is possible, as our case. Management by multidisciplinary team is recommended.

Obesity as an Emerging Risk Factor for Iron Deficiency

Directory of Open Access Journals (Sweden)

Elmar Aigner

2014-09-01

Full Text Available Iron homeostasis is affected by obesity and obesity-related insulin resistance in a many-facetted fashion. On one hand, iron deficiency and anemia are frequent findings in subjects with progressed stages of obesity. This phenomenon has been well studied in obese adolescents, women and subjects undergoing bariatric surgery. On the other hand, hyperferritinemia with normal or mildly elevated transferrin saturation is observed in approximately one-third of patients with metabolic syndrome (MetS or nonalcoholic fatty liver disease (NAFLD. This constellation has been named the “dysmetabolic iron overload syndrome (DIOS”. Both elevated body iron stores and iron deficiency are detrimental to health and to the course of obesity-related conditions. Iron deficiency and anemia may impair mitochondrial and cellular energy homeostasis and further increase inactivity and fatigue of obese subjects. Obesity-associated inflammation is tightly linked to iron deficiency and involves impaired duodenal iron absorption associated with low expression of duodenal ferroportin (FPN along with elevated hepcidin concentrations. This review summarizes the current understanding of the dysregulation of iron homeostasis in obesity.

Enhanced response to radiotherapy in tumours deficient in the function of hypoxia-inducible factor-1.

NARCIS (Netherlands)

Williams, K.J.; Telfer, B.A.; Xenaki, D.; Sheridan, M.R.; Desbaillets, I.; Peters, H.J.; Honess, D.; Harris, A.L.; Dachs, G.U.; Kogel, A.J. van der; Stratford, I.J.

2005-01-01

BACKGROUND AND PURPOSE: To test the hypothesis that deficiency in expression of the transcription factor, HIF-1, renders tumours more radioresponsive than HIF-1 proficient tumours. PATIENTS AND METHODS: Tumours comprising mouse hepatoma cells lacking HIF-1beta (and thereby HIF-1 function) were grown

Desmopressin acetate as a haemostatic elevator in individuals with combined deficiency of factors V and VIII: a clinical trial.

Science.gov (United States)

Mansouritorghabeh, H; Shirdel, A

2016-02-01

ESSENTIALS: Combined factor V (FV) and factor VIII (FVIII) deficiency (CF5F8D) is an autosomal recessive coagulation disorder. Desmopressin acetate (DDAVP) was intravenously infused in 20 adult patients with CF5F8D. DDAVP can enhance FVIII levels but has no effect on FV levels in patients with CF5F8D. DDAVP can be substituted for FVIII concentrates in patients with CF5F8D. Combined factor V (FV) and FVIII deficiency (CF5F8D) is a rare inherited autosomal recessive double-gene disorder most frequently seen in the Middle East. Although affected individuals have deficiency of two coagulation factors (range 5-30%), their bleeding tendencies are similar to patients who have deficiency of a single coagulation factor at the same level. The mainstay of their treatment is infusion of FVIII concentrate and fresh frozen plasma. Here, the effect of intravenous infusion of desmopressin acetate (DDAVP) on elevation of coagulation FV and FVIII was investigated through a clinical trial in May 2015. In a registered controlled trial, DDAVP (dosage 0.3 μg kg(-1) ) was intravenously infused into 20 adult patients with CF5F8D over 20 min. After an hour, blood samples were collected and plasma levels of FV and FVIII were measured. This study revealed that DDAVP can enhance FVIII levels but has no effect on FV plasma concentration in patients with CF5F8D. Based on these findings, FVIII concentrates may be substituted for DDAVP in patients with CF5F8D. © 2015 International Society on Thrombosis and Haemostasis.

Construction of a mouse model of factor VIII deficiency by gene targeting

Energy Technology Data Exchange (ETDEWEB)

Bi, L.; Lawler, A.; Gearhart, J. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)] [and others

1994-09-01

To develop a small animal model of hemophilia A for gene therapy experiments, we set out to construct a mouse model for factor VIII deficiency by gene targeting. First, we screened a mouse liver cDNA library using a human FVIII cDNA probe. We cloned a 2.6 Kb partial mouse factor VIII cDNA which extends from 800 base pairs of the 3{prime} end of exon 14 to the 5{prime} end of exon 26. A mouse genomic library made from strain 129 was then screened to obtain genomic fragments covering the exons desired for homologous recombination. Two genomic clones were obtained, and one covering exon 15 through 22 was used for gene targeting. To make gene targeting constructs, a 5.8 Kb genomic DNA fragment covering exons 15 to 19 of the mouse FVIII gene was subcloned, and the neo expression cassette was inserted into exons 16 and 17 separately by different strategies. These two constructs were named MFVIIIC-16 and MFVIIIC-17. The constructs were linearized and transfected into strain 129 mouse ES cells by electroporation. Factor VIII gene-knockout ES cell lines were selected by G-418 and screened by genomic Southern blots. Eight exon 16 targeted cell lines and five exon 17 targeted cell lines were obtained. Three cell lines from each construct were injected into blastocysts and surgically transferred into foster mothers. Multiple chimeric mice with 70-90% hair color derived from the ES-cell genotype were seen with both constructs. Germ line transmission of the ES-cell genotype has been obtained for the MFVIIIC-16 construct, and multiple hemophilia A carrier females have been identified. Factor VIII-deficient males will be conceived soon.

Technologies for Hemostasis and Stabilization of the Acute Traumatic Wound

Science.gov (United States)

2012-10-01

purified fibrinogen from USARMY donated plasma. 6. Generation of purified recombinant activated Factor XIII (rFXIIIA2-a) made from yeast fermentation ...Figure 5. SDS-PAGE of purified recombinant activated Factor XIII, from fermentation of Pichia pastoris. Lane 1: molecular weight marker...fibrinogen (FI) and activated Factor XIII (FXIIIa) were generated in the milk of transgenic cows and in yeast , respectively; human r- thrombin (FIIa

El consulado genovés de Sevilla (siglos XIII-XV. Aspectos jurisdiccionales, comerciales y fiscales

Directory of Open Access Journals (Sweden)

José Damián GONZÁLEZ ARCE

2011-02-01

Full Text Available El presente artículo analiza el funcionamiento del consulado genovés de Sevilla, entre los siglos XIII y XV, a partir de los privilegios concedidos por los reyes castellanos y otros documentos donde se contienen noticias sobre la actividad de estos italianos. En primer lugar, se estudian las competencias jurisdiccionales de dicho consulado y las facultades judiciales de sus cónsules. Luego son descritas las actividades mercantiles de la colonia ligur en el marco del consulado, así como otros aspectos ligados al comercio, como seguros y transportes. Y, finalmente, las exacciones fiscales a las que fueron sometidas esta colonia y las mercancías con las que traficó.

Vitamin D deficiency in older adults and its associated factors: a cross-sectional analysis of the Mexican Health and Aging Study.

Science.gov (United States)

Carrillo-Vega, María Fernanda; García-Peña, Carmen; Gutiérrez-Robledo, Luis Miguel; Pérez-Zepeda, Mario Ulises

2017-12-01

Vitamin D deficiency was common in older adults from a country with adequate sun exposure. The variables associated with this deficiency provide insight into the next steps needed to characterize older adults with this deficiency and to treat it accordingly. The aim of this study was to describe the prevalence of and factors associated with vitamin D deficiency among Mexican older adults. This was a secondary analysis of the last wave of the Mexican Health and Aging Study. Vitamin D levels along with other biomarkers were obtained from a sub-sample of Mexican adults older than 60 years. Prevalence was described by sex and age group, and a multivariate analysis was performed to test the factors associated with this condition. Data from 1088 adults over the age of 60 years were analyzed. The mean serum vitamin D level was 23.1 ± 8.1 ng/mL and was significantly higher among men than women (25.6 ± 0.6 and 22.8 ± 0.5 ng/mL, respectively; p vitamin D deficiency, 65% of whom were women. Low 25-(OH)-vitamin D levels were associated with female sex (OR 1.74, 95% CI 1.59-2.42), current smoking (OR 2.21, 95% CI 1.47-3.39), education (OR 1.1, 95% CI 1.06-1.13), physical activity (OR 1.74, 95% CI 1.31-2.23), and high levels of glycated hemoglobin (OR 1.16, 95% CI 1.07-1.25). Vitamin D deficiency was highly prevalent in Mexican older adults and was associated with a number of factors, indicating the multifactorial causality of this deficiency.

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 ...

Iron-Deficiency Anemia

Medline Plus

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

Effect of Factor XIII-A G185T Polymorphism on Visual Prognosis after Photodynamic Therapy for Neovascular Macular Degeneration

Directory of Open Access Journals (Sweden)

Francesco Parmeggiani

2015-08-01

Full Text Available Macular degenerations represent leading causes of central blindness or low vision in developed countries. Most of these severe visual disabilities are due to age-related macular degeneration (AMD and pathologic myopia (PM, both of which are frequently complicated by subfoveal choroidal neovascularization (CNV. Photodynamic therapy with verteporfin (PDT-V is still employed for CNV treatment in selected cases or in combined regimen. In Caucasian patients, the common polymorphism G185T of factor XIII-A gene (FXIII-A-G185T; rs5985 has been described as predictor of poor angiographic CNV responsiveness to PDT-V. Nevertheless, the prognostic implications of this pharmacogenetic determinant on long-term visual outcome after a PDT-V regimen have not been evaluated. We retrospectively selected Caucasian patients presenting with treatment-naive CNV and receiving standardized PDT-V protocol for two years. The study population included patients affected by subfoveal CNV secondary to AMD or PM. We assessed the correlations between the polymorphic allele T of FXIII-A-G185T and: (1 total number of photodynamic treatments; and (2 change in visual acuity from baseline to the end of the follow-up period. Considering a total study population of 412 patients with neovascular AMD or PM, the carriers of 185 T-allele of FXIII-A (GT or TT genotype received a higher number of photodynamic treatments than patients without it (GG wild-type genotype (p < 0.01; mean number of PDT-V: 5.51 vs. 3.76, respectively. Moreover, patients with 185 T-allele of FXIII-A had a more marked worsening of visual acuity at 24 months than those with the GG-185 wild genotype (p < 0.01; mean difference in logMAR visual acuity: 0.22 vs. 0.08, respectively. The present findings show that the G185T polymorphism of the FXIII-A gene is associated with significant differences in the long-term therapeutic outcomes of patients treated with standardized PDT-V protocol. The comprehensive appraisal of

EVALUASI PENGENDALIAN INTERNAL TERHADAP PENERIMAAN DAN PENGELUARAN KAS PADA PT PLN (PerseroUNIT INDUK PEMBANGUNAN XIII MAKASSAR

Directory of Open Access Journals (Sweden)

ESTER DEWI

2017-05-01

There is also the purpose of writing is: 1 .To analyze the structure of the organization, 2. Analyze the system mechanisms and procedures for cash receipts and expenditure, 3 Analyze healthy practice associated with research at PT PLN (Persero Parent Unit XIII development Makassar. The purpose of writing, 4. Analyzing the quality and reliability of employees in his work responsibility. The methodology used is the research field research and questionnaires while the analysis used was a descriptive comparative analysis aims to describe the activities of the company, especially in the Internal Control System Cash Receipts and Expenditure.

Vitamin C deficiency aggravates tumor necrosis factor α-induced insulin resistance.

Science.gov (United States)

Qing, Zhou; Xiao-Hui, Wu; Xi-Mei, Wu; Chao-Chun, Zou

2018-06-15

Chronic low-grade inflammation plays a major role in the development of insulin resistance. The potential role and underlying mechanism of vitamin C, an antioxidant and anti-inflammatory agent, was investigated in tumor necrosis factor-α (TNF-α)-induced insulin resistance. Gulonolactone oxidase knockout (Gulo -/- ) mice genetically unable to synthesize vitamin C were used to induce insulin resistance by continuously pumping small doses of TNF-α for seven days, and human liver hepatocellular carcinoma cells (HepG2 cells) were used to induce insulin resistance by treatment with TNF-α. Vitamin C deficiency aggravated TNF-α-induced insulin resistance in Gulo -/- mice, resulting in worse glucose tolerance test (GTT) results, higher fasting plasma insulin level, and the inactivation of the protein kinase B (AKT)/glycogen synthase kinase-3β (GSK3β) pathway in the liver. Vitamin C deficiency also worsened liver lipid accumulation and inflammation in TNF-α-treated Gulo -/- mice. In HepG2 cells, vitamin C reversed the TNF-α-induced reduction of glucose uptake and glycogen synthesis, which were mediated by increasing GLUT2 levels and the activation of the insulin receptor substrate (IRS-1)/AKT/GSK3β pathway. Furthermore, vitamin C inhibited the TNF-α-induced activation of not only the mitogen-activated protein kinase (MAPKs), but also nuclear factor-kappa B (NF-κB) signaling. Taken together, vitamin C is essential for preventing and improving insulin resistance, and the supplementing with vitamin C may be an effective therapeutic intervention for metabolic disorders. Copyright © 2018 Elsevier B.V. All rights reserved.

Of decentralization of public power Ukrainian land that belonged to Lithuanian (XIII – the early XVII century

Directory of Open Access Journals (Sweden)

C. V. Manuilova

2016-06-01

Full Text Available A comprehensive crisis in Ukraine and continued military confrontation in the Donbass demonstrated the urgent need to establish effective governance, which would imply decentralization of public power. Note that in implementing the decentralization of power in Ukraine insists the International Monetary Fund; United Nations Development Program; the transfer of authority to the field and decentralization of power in Ukraine is one of the points of the Minsk agreements and obligations of Ukraine to the EU. The article deals with the Ukrainian lands topical issue features the decentralization of public power in the XIII - the beginning of XVII century. The importance of the topic due to the need to study the historical experience of the implementation of decentralization. It was, emphasized that the success of the reforms depends largely because of the historical experience and features of the decentralization of public power in the past. Characterized by the development of local government in the Ukrainian lands was part of the Lithuanian state. The purpose of the article is to clarify the characteristics of decentralization of public authority on Ukrainian lands were part of the Lithuanian state during the XVII century XIII. To address this goal, outline decentralization of public power in the state; analyze, competence of local government in the Ukrainian lands that belonged to the Lith uanian State; determine how close to the power of the people. The level of decentralization of public power in the Grand Duchy of Lithuania in the XIII - the beginning of XVII century was high. It was, found that Lithuania had not established a centralized state. It is, noted that the Board of the nobility limited the princely power. The effect of delegated deputies from different parts of the Lithuanian statehood solutions nobility Council.Clarified the facts that confirm the existence of decentralization of public power in Lithuania: the functioning of local

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency)

International Nuclear Information System (INIS)

Taylor, S.A.M.; Deugau, K.V.; Lillicrap, D.P.

1991-01-01

Studies have shown that hemophilia B (Christmas disease; factor IX deficiency) results from many different mutations in the factor IX gene, of which >95% are single nulceotide substitutions. This study has identified a previously unreported form of hemophilia B in a patient who was a somatic mosaic for a guanine-to-cytosine transversion at nucleotide 31,170 in the factor IX gene. This point mutation changes the codon for residue 350 in the catalytic domain of factor IX from a cysteine to a serine. The authors used differential termination of primer extension to confirm and measure the degree of mosaicism. The study shows that a varying proportion of cells from hepatic, renal, smooth muscle, and hematopoietic populations possessed normal as well as mutant factor IX sequences. These results indicate that the mutation in this patient occurred either as an uncorrected half-chromatid mutation in the female gamete or as a replication or postreplication error in the initial mitotic divisions of the zygote preceding implantation. In addition, this kindred also contains two females in successive generations who have moderately severe factor IX deficiency. The molecular pathogenesis of this latter phenomenon has been studied and seems to relate to the unaccompanied expression of the mutant factor IX gene consequent upon a second, as yet undefined, genetic event that has prevented inactivation of sequences including the mutant factor IX gene on the X chromosome inherited from the affected male

PIXE and IL analysis of an archeologically problematic XIII century ceramic production

Energy Technology Data Exchange (ETDEWEB)

Zucchiatti, Alessandro, E-mail: alessandro.zucchiatti@uam.es [Centro de Micro-Análisis de Materiales, Universidad Autónoma de Madrid, C/Faraday 3, Madrid (Spain); Jiménez-Rey, David [Centro de Micro-Análisis de Materiales, Universidad Autónoma de Madrid, C/Faraday 3, Madrid (Spain); Laboratorio Nacional de Fusión CIEMAT, E06.P2.09, Madrid (Spain); Climent-Font, Aurelio [Centro de Micro-Análisis de Materiales, Universidad Autónoma de Madrid, C/Faraday 3, Madrid (Spain); Departamento di Física Aplicada, Universidad Autónoma de Madrid, Madrid (Spain); Martina, Silvia [Centro de Micro-Análisis de Materiales, Universidad Autónoma de Madrid, C/Faraday 3, Madrid (Spain); Universitá degli Studi di Torino, Turin (Italy); Faieta, Rosangela [Centro de Micro-Análisis de Materiales, Universidad Autónoma de Madrid, C/Faraday 3, Madrid (Spain); Universitá della Tuscia, Viterbo (Italy); Maggi, Marco [Musei Vaticani, Ufficio del Conservatore, Rome (Italy); Giuntini, Lorenzo; Calusi, Silvia [INFN – Laboratorio di tecniche Nucleari per i Beni Culturali, Florence (Italy)

2015-11-15

At the beginning of the XIII century the archaeologists have found evidence of a singular, transitional, pottery technique limited to a small area around western Liguria (Northwest of Italy). Known as Ligurian Protomajolica (PML), it shows in the same ceramic body and on the same surface white slip and enamel together, addressing questions about the technical reasons of this unusual combination, its origin and evolution. To integrate previous morphological and mineralogical studies, we have analysed by particle induced X-ray emission (also with mapping) and ionoluminescence (IL) the ceramic body, slip and glaze composition of 56 samples, of which 25 PML’s. We have identified some PML’s compositional features which are distinct from those of other coeval or later productions from the same area. A few PML imitations are described. A plausible explanation of the origin of the PML’s, based both on the archaeometric results and the archaeological and historical knowledge, is presented.

VitaminA, E, and D deficiencies in tunisian very low birth weight neonates: prevalence and risk factors.

Science.gov (United States)

Fares, Samira; Sethom, Mohamed Marouane; Khouaja-Mokrani, Chahnez; Jabnoun, Sami; Feki, Moncef; Kaabachi, Naziha

2014-06-01

Preterm neonates are at high risk of vitamin deficiencies, which may expose them to increased morbidity and mortality. This study aimed to determine the prevalence and risk factors for vitamin A, E, and D deficiencies in Tunisian very low birth weight (VLBW) neonates. A total of 607 VLBW and 300 term neonates were included in the study. Plasma vitamins A and E were assessed by high performance liquid chromatography and vitamin D was assessed by radioimmunoassay. Prevalence of vitamin A, E, and D deficiencies were dramatically elevated in VLBW neonates and were significantly higher than term neonates (75.9% vs. 63.3%; 71.3% vs. 55.5%; and 65.2% vs. 40.4%, respectively). In VLBW neonates, the prevalence of vitamin deficiencies was significantly higher in lower classes of gestational age and birth weight. Vitamin E deficiency was associated with pre-eclampsia [odds ratio (OR) (95% confidence interval, 95% CI), 1.56 (1.01-2.44); p < 0.01] and gestational diabetes [4.01 (1.05-17.0); p < 0.01]. Vitamin D deficiency was associated with twin pregnancy [OR (95% CI), 2.66 (1.33-5.35); p < 0.01] and pre-eclampsia [2.89 (1.36-6.40); p < 0.01]. Vitamin A, E, and D deficiencies are very common in Tunisian VLBW neonates and are associated with pre-eclampsia. Improved nutritional and health support for pregnant women and high dose vitamins A, E, and D supplementation in VLBW neonates are strongly required in Tunisia. Copyright © 2013. Published by Elsevier B.V.

Iron deficiency anaemia among apparently healthy pre-school ...

African Journals Online (AJOL)

Background: Iron deficiency, and specifically iron deficiency anaemia, remains one of the most severe and important nutritional deficiencies in the world today. Objective: To estimate the prevalence and associated factors for iron deficiency anaemia among pre-school children in Lagos. Methodology: The study was ...

Elevated prothrombin time on routine preoperative laboratory results in a healthy infant undergoing craniosynostosis repair: Diagnosis and perioperative management of congenital factor VII deficiency.

Science.gov (United States)

Jones, Kareen L; Greenberg, Robert S; Ahn, Edward S; Kudchadkar, Sapna R

2016-01-01

Congenital factor VII deficiency is a rare bleeding disorder with high phenotypic variability. It is critical that children with congenital Factor VII deficiency be identified early when high-risk surgery is planned. Cranial vault surgery is common for children with craniosynostosis, and these surgeries are associated with significant morbidity mostly secondary to the risk of massive blood loss. A two-month old infant who presented for elective craniosynostosis repair was noted to have an elevated prothrombin time (PT) with a normal activated partial thromboplastin time (aPTT) on preoperative labs. The infant had no clinical history or reported family history of bleeding disorders, therefore a multidisciplinary decision was made to repeat the labs under general anesthesia and await the results prior to incision. The results confirmed the abnormal PT and the case was canceled. Hematologic workup during admission revealed factor VII deficiency. The patient underwent an uneventful endoscopic strip craniectomy with perioperative administration of recombinant Factor VIIa. Important considerations for perioperative laboratory evaluation and management in children with factor VII deficiency are discussed. Anesthetic and surgical management of the child with factor VII deficiency necessitates meticulous planning to prevent life threatening bleeding during the perioperative period. A thorough history and physical examination with a high clinical suspicion are vital in preventing hemorrhage during surgeries in children with coagulopathies. Abnormal preoperative lab values should always be confirmed and addressed before proceeding with high-risk surgery. A multidisciplinary discussion is essential to optimize the risk-benefit ratio during the perioperative period. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Macrophage migration inhibitory factor deficiency is associated with impaired killing of gram-negative bacteria by macrophages and increased susceptibility to Klebsiella pneumoniae sepsis.

Science.gov (United States)

Roger, Thierry; Delaloye, Julie; Chanson, Anne-Laure; Giddey, Marlyse; Le Roy, Didier; Calandra, Thierry

2013-01-15

The cytokine macrophage migration inhibitory factor (MIF) is an important component of the early proinflammatory response of the innate immune system. However, the antimicrobial defense mechanisms mediated by MIF remain fairly mysterious. In the present study, we examined whether MIF controls bacterial uptake and clearance by professional phagocytes, using wild-type and MIF-deficient macrophages. MIF deficiency did not affect bacterial phagocytosis, but it strongly impaired the killing of gram-negative bacteria by macrophages and host defenses against gram-negative bacterial infection, as shown by increased mortality in a Klebsiella pneumonia model. Consistent with MIF's regulatory role of Toll-like 4 expression in macrophages, MIF-deficient cells stimulated with lipopolysaccharide or Escherichia coli exhibited reduced nuclear factor κB activity and tumor necrosis factor (TNF) production. Addition of recombinant MIF or TNF corrected the killing defect of MIF-deficient macrophages. Together, these data show that MIF is a key mediator of host responses against gram-negative bacteria, acting in part via a modulation of bacterial killing by macrophages.

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.

Science.gov (United States)

Rath, M; Najm, J; Sirb, H; Kentouche, K; Dufke, A; Pauli, S; Hackmann, K; Liehr, T; Hübner, C A; Felbor, U

2015-01-01

Congenital factor VII (FVII) and factor X (FX) deficiencies belong to the group of rare bleeding disorders which may occur in separate or combined forms since both the F7 and F10 genes are located in close proximity on the distal long arm of chromosome 13 (13q34). We here present data of 192 consecutive index cases with FVII and/or FX deficiency. 10 novel and 53 recurrent sequence alterations were identified in the F7 gene and 5 novel as well as 11 recurrent in the F10 gene including one homozygous 4.35 kb deletion within F7 (c.64+430_131-6delinsTCGTAA) and three large heterozygous deletions involving both the F7 and F10 genes. One of the latter proved to be cytogenetically visible as a chromosome 13q34 deletion and associated with agenesis of the corpus callosum and psychomotor retardation. Large deletions play a minor but essential role in the mutational spectrum of the F7 and F10 genes. Copy number analyses (e. g. MLPA) should be considered if sequencing cannot clarify the underlying reason of an observed coagulopathy. Of note, in cases of combined FVII/FX deficiency, a deletion of the two contiguous genes might be part of a larger chromosomal rearrangement.

Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.

Science.gov (United States)

Li, Min; Jin, Yanhui; Wang, Mingshan; Xie, Yaosheng; Ding, Hongxiang

2016-11-01

To explore the characteristics of laboratory examination and confirm the diagnosis of a patient with combined inherited FVII and FX deficiency after he ingested diphacinone rodenticide accidentally. The coagulant parameter screening tests and coagulation factor activities were tested many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members by DNA direct sequencing. 106 persons were selected as controls from routine health examinations. After the patient was admitted to hospital, routine coagulation screening tests revealed the prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and low levels of vitamin K-dependent coagulation factors (FII, FVII, FIX, FX) activity, which was 102.4 seconds, 88.5 seconds, 7%, 3%, 8%, and 2%, respectively. During more than one year of treatment, the value of PT and APTT still showed significantly prolonged activity and FVII and FX activity levels were about 5%. While FII and FIX activity levels were in the normal range after 12 weeks of treatment. Two homozygous mutations, g.11267C>T of F7 gene resulting in the substitution Arg277Cys and g.28139G>T of F10 gene leading to the substitution Val384Phe, were identified in the patient. The patient's parents and sister was heterozygous for Arg277Cys and Val384Phe mutations. FVII and FX antigen levels in the patient were 7% and 30%, respectively. There were many similarities in the characteristics of laboratory examination between combined inherited FVII and FX deficiency and acquired vitamin K deficiency. The best way to identify them was gene analysis.

Iron deficiency anaemia -a risk factor for febrile seizures in children

International Nuclear Information System (INIS)

Sherjil, A.; Saeed, Z.U.; Shehzad, S.; Amjad, R.

2010-01-01

Background: Iron deficiency anaemia and febrile seizures are two common diseases in children worldwide as well as in our country. Iron insufficiency is known to cause neurological symptoms like behavioural changes, poor attention span and learning deficits in children. Therefore, it may also be associated with other neurological disturbances like febrile seizures in children. Objective of our case-control study was to find association between iron deficiency anaemia and febrile seizures in children. Methods: This multicentre study was conducted in Department of Paediatrics HIT Hospital Taxila Cantt, Department of Paediatrics CMH Mangla and Department of Paediatrics POF Hospital Wah Cantt, from June 2008 to June 2010. Three hundred and ten children aged between 6 months to 6 years were included in the study. One hundred and fifty-seven children who presented with febrile seizures were our cases, while, 153 children who presented with febrile illnesses without seizures were recruited as controls. All patients were assessed for iron deficiency anaemia by measuring haemoglobin level, serum ferritin level, Mean Corpuscular Haemoglobin Concentration (MCHC) and Mean Corpuscular Volume (MCV). Patients with iron deficiency anaemia amongst controls and cases were documented. Percentages and Odds ratio were derived from the collected data. Results: 31.85% of cases (50 out of 157) had iron deficiency anaemia whereas, 19.6% of controls (30 out of 153) were found to have iron deficiency anaemia as revealed by low levels of haemoglobin level, serum ferritin level, Mean Corpuscular Haemoglobin Concentration and Mean Corpuscular Volume. Odds ratio was 1.93. Conclusion: Patients with febrile seizures are 1.93 times more likely to have iron deficiency anaemia compared to febrile patients without seizures. (author)

Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency.

Science.gov (United States)

Katsu-Jiménez, Yurika; Loría, Frida; Corona, Juan Carlos; Díaz-Nido, Javier

2016-05-01

Friedreich's ataxia is a predominantly neurodegenerative disease caused by recessive mutations that produce a deficiency of frataxin (FXN). Here, we have used a herpesviral amplicon vector carrying a gene encoding for brain-derived neurotrophic factor (BDNF) to drive its overexpression in neuronal cells and test for its effect on FXN-deficient neurons both in culture and in the mouse cerebellum in vivo. Gene transfer of BDNF to primary cultures of mouse neurons prevents the apoptosis which is triggered by the knockdown of FXN gene expression. This neuroprotective effect of BDNF is also observed in vivo in a viral vector-based knockdown mouse cerebellar model. The injection of a lentiviral vector carrying a minigene encoding for a FXN-specific short hairpin ribonucleic acid (shRNA) into the mouse cerebellar cortex triggers a FXN deficit which is accompanied by significant apoptosis of granule neurons as well as loss of calbindin in Purkinje cells. These pathological changes are accompanied by a loss of motor coordination of mice as assayed by the rota-rod test. Coinjection of a herpesviral vector encoding for BDNF efficiently prevents both the development of cerebellar neuropathology and the ataxic phenotype. These data demonstrate the potential therapeutic usefulness of neurotrophins like BDNF to protect FXN-deficient neurons from degeneration.

High prevalence of vitamin D deficiency among middle-aged and elderly individuals in northwestern China: its relationship to osteoporosis and lifestyle factors.

Science.gov (United States)

Zhen, Donghu; Liu, Lijuan; Guan, Conghui; Zhao, Nan; Tang, Xulei

2015-02-01

Vitamin D deficiency has reached epidemic proportions; this deficiency has been associated with osteoporosis and certain lifestyle factors in adults. This relationship is not well documented among the Lanzhou population in northwest China. This study sought to determine the prevalence of vitamin D deficiency and its risk factors in addition to its relationship with osteoporosis in a Chinese population living in Lanzhou. This cross-sectional study involved 2942 men and 7158 women aged 40-75years who were randomly selected from 3 communities in the Lanzhou urban district and examined medically. Levels of 25-hydroxy-vitamin D [25(OH)D] and other parameters were measured according to detailed inclusion criteria. Vitamin D deficiency was defined as serum 25(OH)D levels below 20ng/mL. Calcaneus bone mineral density (BMD) was measured by quantitative ultrasound (QUS). The prevalence of vitamin D deficiency (25(OH)D levels Vitamin D deficiency was more prevalent in women (79.7%) than in men (64%; Pvitamin D deficiency included coronary heart disease (CHD), obesity, dyslipidemia, older age, female sex, and smoking (all Pvitamin D supplementation and sun exposure were protective (all Pvitamin D levels (0.53±0.13 vs. 0.54±0.13; P=0.089). The risk of having osteoporosis did not increase when vitamin D levels decreased from ≥20ng/mL to Vitamin D deficiency is prevalent in the middle-aged and elderly northwestern Chinese population and is largely attributed to CHD, obesity, dyslipidemia, older age, female sex, and smoking. Reduced 25(OH)D levels are not associated with an increased osteoporosis risk. Copyright © 2014 Elsevier Inc. All rights reserved.

Life-threatening bleeding in a case of autoantibody-induced factor VII deficiency.

Science.gov (United States)

Okajima, K; Ishii, M

1999-02-01

A male patient presented with life-threatening bleeding induced by autoantibody-induced factor VII (F.VII) deficiency. This patient had macroscopic hematuria, skin ecchymosis, gastrointestinal bleeding, and a neck hematoma that was causing disturbed respiration. He developed acute renal failure and acute hepatic failure, probably due to obstruction of the ureters and the biliary tract, respectively. Although activated partial thromboplastin time was normal, prothrombin time (PT) was remarkably prolonged at 71.8 seconds compared to 14.0 seconds in a normal control. Both the immunoreactive level of F.VII antigen and the F.VII activity of the patient's plasma samples were VII activity. These findings suggested the presence of a plasma inhibitor for F.VII. After administration of large doses of methylprednisolone, PT was gradually shortened and plasma levels of F.VII increased over time. Bleeding, acute renal failure, and acute hepatic failure improved markedly following the steroid treatment. These observations suggest that life-threatening bleeding can be induced by autoantibody-induced F.VII deficiency and that immunosuppressive therapy using large doses of steroid can be successful in inhibiting the production of the autoantibody.

Risk factors of vitamin D deficiency in children with epilepsy taking anticonvulsants at initial and during follow-up

Directory of Open Access Journals (Sweden)

Seung Ho Lee

2015-12-01

Full Text Available PurposeVitamin D status was evaluated in children with epilepsy taking anticonvulsants to determine the prevalence and risk factors of vitamin D deficiency.MethodsThis study was designed as both a cross-sectional and a retrospective cohort study. A sum of 198 children who were diagnosed with epilepsy at the Department of Pediatrics in Dankook University Hospital was included. Their serum vitamin D levels were reviewed based on clinical information, and analyzed using IBM SPSS ver. 20.0.ResultsOne hundred twenty-four children (62.6% had vitamin D deficiency. Two risk factors were associated: winter to spring season (odds ratio [OR], 3.71; 95% confidence interval [CI], 1.835-7.492 and age more than 12 years (OR, 3.22; 95% CI, 1.377-7.542. Out of the 57 patients who were not vitamin D deficient at the time of initial assay, 47 patients (82.5% became vitamin D deficient during followup. The change of serum 25-hydroxy vitamin D3 (25(OHD levels during follow up showed a weak negative correlation with the duration of medication (r=-0.283, P=0.033. Medication duration was longer and brain magnetic resonance imaging (MRI abnormality, abnormal underlying conditions, and nonambulatory status were more frequently present in twenty-five patients (44% who showed a decline of more than 15 ng/mL during follow-up (P<0.05.ConclusionVitamin D deficiency is common in children with epilepsy taking anticonvulsants, especially in adolescents more than 12 years of age. This study emphasizes the regular monitoring of vitamin D level, especially in the presence of longer duration of medication, brain MRI abnormality, abnormal underlying conditions, and nonambulatory status.

Management of Surgical Third Lower Molar Extraction and Postoperative Progress in Patients With Factor VII Deficiency: A Clinical Protocol and Focus on This Rare Pathologic Entity.

Science.gov (United States)

Passarelli, Pier Carmine; Pasquantonio, Guido; D'Addona, Antonio

2017-10-01

The purpose of the present study was to analyze the management of surgical third molar extraction and postoperative progress in patients with a diagnosis of factor VII deficiency. Close collaboration between the oral-maxillofacial surgeon and hematologist will allow the team to categorize the risk and operate safely, thereby minimizing the incidence and severity of intraoperative and postoperative complications. The present retrospective study included 7 patients with factor VII deficiency who had undergone third lower molar surgery. Their factor VII deficiency ranged from 10.5 to 21.0%. Recombinant activated factor VII (rFVIIa) (coagulation factor VIIa [recombinant]; NovoSeven RT; Novo Nordisk, Bagsvaerd, Denmark) was transfused intravenously in a single dose of 25 μg/kg body weight, 30 minutes before surgical extractions. After the surgery, betamethasone, an analgesic, and an ice pack were administered. Pretreatment with recombinant activated factor VII resulted in excellent hemostasis. No hemorrhagic complications and no postoperative major bleeding were observed. The extraction of the third lower molar appears to be a safe procedure for patients with factor VII deficiency when appropriate prophylaxis with rFVIIa is used. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

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 ...

Molecular characterization of FXI deficiency.

Science.gov (United States)

Berber, Ergul

2011-02-01

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

ODH, oxygen deficiency hazard cryogenic analysis

International Nuclear Information System (INIS)

Augustynowicz, S.D.

1994-01-01

An oxygen deficiency exists when the concentration of oxygen, by volume, drops to a level at which atmosphere supplying respiratory protection must be provided. Since liquid cryogens can expand by factors of 700 (LN 2 ) to 850 (LH e ), the uncontrolled release into an enclosed space can easily cause an oxygen-deficient condition. An oxygen deficiency hazard (ODH) fatality rate per hour (OE) is defined as: OE = Σ N i P i F i , where N i = number of components, P i = probability of failure or operator error, and F i = fatality factor. ODHs range from open-quotes unclassifiedclose quotes (OE -9 1/h) to class 4, which is the most hazardous (OE>10 -1 1/h). For Superconducting Super Collider Laboratory (SSCL) buildings where cryogenic systems exist, failure rate, fatality factor, reduced oxygen ratio, and fresh air circulation are examined

[Vitamin B12 deficiency: what's new?].

Science.gov (United States)

Braillard, O; Casini, A; Samii, K; Rufenacht, P; Junod, Perron N

2012-09-26

Vitamin B12 screening is only recommended among symptomatic patients or in those with risk factors. The main cause of vitamin B12 deficiency is the food cobalamin malabsorption syndrom. Holotranscobalamin is a more reliable marker than cyanocobalamin to confirm vitamin B12 deficiency, but it has not been validated yet in complex situations. An autoimmune gastritis must be excluded in the absence of risk factors but in the presence of a probable deficiency. Oral substitution treatment is effective but requires excellent therapeutic compliance and close follow-up to monitor the response to treatment. It has not yet been studied among patients suffering from severe symptoms, inflammatory bowel disease and ileal resection.

Myeloid differentiation factor 88 (MyD88-deficiency increases risk of diabetes in mice.

Directory of Open Access Journals (Sweden)

Toru Hosoi

Full Text Available BACKGROUND: Multiple lines of evidence suggest innate immune response pathways to be involved in the development of obesity-associated diabetes although the molecular mechanism underling the disease is unknown. Recent observations suggest that saturated fatty acids can act as a ligand for toll-like receptor (TLR 4, which is thought to mediate obesity-associated insulin resistance. Myeloid differentiation factor 88 (MyD88 is an adapter protein for TLR/IL-1 receptor signaling, which is involved in the activation of inflammatory pathways. To evaluate molecular mechanisms linking obesity-associated diabetes down-stream of TLR4, we investigated physiological role of MyD88 in high-fat diet (HFD-induced obesity. METHODOLOGY/PRINCIPAL FINDINGS: In the present study, we found MyD88-deficient mice fed a HFD had increased circulating levels of insulin, leptin and cholesterol, as well as liver dysfunction (increased induction of ALT levels, increased activation of JNK and cleavage of PARP, which were linked to the onset of severe diabetes. On the other hand, TNF-alpha would not be involved in HFD-induced diabetes in MyD88-deficient mice, because TNF-alpha level was attenuated in MyD88-deficient mice fed with HFD. CONCLUSIONS/SIGNIFICANCE: The present finding of an unexpected role for MyD88 in preventing diabetes may provide a potential novel target/strategy for treating metabolic syndrome.

Del "scriptor" al "publicus notarius" : los escribanos de Madrid en el siglo XIII

Directory of Open Access Journals (Sweden)

María Teresa Carrasco Lazareno

2003-01-01

Full Text Available Estudio diplomático y jurídicoinstitucional de las escribanías de Madrid en el siglo XIII. Se analiza su evolución desde los primeros "Scriptores» prenotariales conocidos, clérigos y laicos de libre profesión, documentados hasta 1260, hasta la consolidación definitiva de la institución notarial y del instrumento público en el último cuarto del siglo XIII. Se estudian con detenimiento la compleja etapa de transición, en las décadas centrales de la centuria, la figura del «escrivano de congejo de Madrit», profesional estable y antecedente inmediato del escribano público, y la instauración del notariado, de acuerdo con la legislación alfonsina, así como de la escribanía municipal, por otorgamiento de Alfonso X, en 1264. A través de la documentación conservada, se analiza, asimismo, la transformación de la simple carta o «scriptura» testifical en «publicum instrumentum», mediante la valoración de la pervivencia de elementos tradicionales y la aparición de fórmulas diplomáticas que revelan la paulatina introducción.This is a diplomatic and a legal — institutional study about the actuarles offices in Madrid during the Xlllth century Its evolution is analyzed from the first known prenotarial "scriptores», priests and liberal professionals seculars, documented until 1260, until the final consolidation of the notary institution and the public instrument during the last quarter of the Xlllth century There is a detailed study about the complexity of the transitional period, during the central decades of that century, the figure of the «Notary of the Madrid Town Council», as a stable professional and immediate predecessor of the public actuary the establishment of the body of actuarles, according to the Alphonsine legislation, an the municipal actuary office, established by King Alphonse Xth., in 1264. Through the preserved documentation, it is analized, at the same time, the transformation of the simple letter, or

Prevalence of vitamin D deficiency and its associated factors among the urban elderly population in Hyderabad metropolitan city, South India.

Science.gov (United States)

Suryanarayana, Palla; Arlappa, Nimmathota; Sai Santhosh, Vadakattu; Balakrishna, Nagalla; Lakshmi Rajkumar, Pondey; Prasad, Undrajavarapu; Raju, Banavath Bhoja; Shivakeseva, Kommula; Divya Shoshanni, Kondru; Seshacharyulu, Madabushi; Geddam, Jagjeevan Babu; Prasanthi, Prabhakaran Sobhana; Ananthan, Rajendran

2018-03-01

Deficiency of vitamin D has been associated with various health conditions. However, vitamin D deficiency (VDD) and factors associated with VDD are not well studied, especially among the urban elderly population of India. To assess the prevalence of VDD and its associated factors among the urban free-living elderly population in Hyderabad. A community-based cross-sectional study was conducted among 298 urban elderly (≥60 years) by adapting a random sampling procedure. Demographic particulars were collected. Blood pressure and anthropometric measurements were recorded using standard equipment. Fasting glucose, lipid profile and 25-hydroxy vitamin D [25(OH) D] were estimated in plasma samples. The mean ± SE plasma vitamin D and the prevalence of VDD among the urban elderly population were 19.3 ± 0.54 (ng/ml) and 56.3%, respectively. The prevalence of VDD was significantly associated with education, high body mass index (BMI), hypertension (HT) and metabolic syndrome (MS). Multiple logistic regression analysis revealed HT as a significant predictor of vitamin D deficiency and the risk of VDD was double among the elderly with hypertension. The prevalence of VDD was high among the urban elderly population in the south Indian city of Hyderabad. High BMI, MS, HT and education are significant associated factors of VDD.

Visual loss and optic nerve head swelling in thiamine deficiency without prolonged dietary deficiency

Directory of Open Access Journals (Sweden)

Gratton SM

2014-05-01

Full Text Available Sean M Gratton, Byron L LamBascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL, USAAbstract: Visual loss due to optic neuropathy is a rare manifestation of thiamine deficiency. We report a case of a 39-year-old woman with a body mass index (BMI of 29 kg/m2 who developed visual loss and bilateral optic nerve head swelling after a short, self-limited gastrointestinal illness. She was disoriented and inattentive and had absent ankle jerk reflexes, diminished sensation in both legs below the knees, and marked truncal ataxia. Magnetic resonance imaging (MRI showed increased T2-signal in the medial thalami and mammillary bodies. The serum thiamine level was 8 nmol/L (normal 8–30. The diagnosis of thiamine deficiency was made, and the patient’s vision and neurologic symptoms improved significantly with intramuscular thiamine treatment. Thiamine deficiency can occur in the absence of an obvious predisposing factor such as alcoholism or low body weight. The clinician must be aware of the factors that govern vitamin availability and maintain a high index of suspicion to make the diagnosis in such cases.Keywords: optic neuropathy, nutritional deficiency

Replacement therapy for bleeding episodes in factor VII deficiency. A prospective evaluation.

Science.gov (United States)

Mariani, Guglielmo; Napolitano, Mariasanta; Dolce, Alberto; Pérez Garrido, Rosario; Batorova, Angelika; Karimi, Mehran; Platokouki, Helen; Auerswald, Günter; Bertrand, Anne-Marie; Di Minno, Giovanni; Schved, Jean F; Bjerre, Jens; Ingerslev, Jorgen; Sørensen, Benny; Ruiz-Saez, Arlette

2013-02-01

Patients with inherited factor VII (FVII) deficiency display different clinical phenotypes requiring ad hoc management. This study evaluated treatments for spontaneous and traumatic bleeding using data from the Seven Treatment Evaluation Registry (STER). One-hundred one bleeds were analysed in 75 patients (41 females; FVII coagulant activity <1-20%). Bleeds were grouped as haemarthroses (n=30), muscle/subcutaneous haematomas (n=16), epistaxis (n=12), gum bleeding (n=13), menorrhagia (n=16), central nervous system (CNS; n=9), gastrointestinal (GI; n=2) and other (n=3). Of 93 evaluable episodes, 76 were treated with recombinant, activated FVII (rFVIIa), eight with fresh frozen plasma (FFP), seven with plasma-derived FVII (pdFVII) and two with prothrombin-complex concentrates. One-day replacement therapy resulted in very favourable outcomes in haemarthroses, and was successful in muscle/subcutaneous haematomas, epistaxis and gum bleeding. For menorrhagia, single- or multiple-dose schedules led to favourable outcomes. No thrombosis occurred; two inhibitors were detected in two repeatedly treated patients (one post-rFVIIa, one post-pdFVII). In FVII deficiency, most bleeds were successfully treated with single 'intermediate' doses (median 60 µg/kg) of rFVIIa. For the most severe bleeds (CNS, GI) short- or long-term prophylaxis may be optimal.

La formazione di un’aristocrazia: monache e monasteri femminili a Venezia tra IX e XIII secolo

Directory of Open Access Journals (Sweden)

Rapetti, Anna

2014-06-01

Full Text Available This paper examines the processes that shaped the identity of the Venetian aristocracy from the 9th to the 13th centuries and the role played by the relationship between patrician families and some female monasteries. The important female monastery of San Zaccaria and some other nunneries created in the lagoon between the 12th and the 13th centuries are taken into account in the analysis of the formation of Venetian aristocracy from this innovative perspective. By analysing the behaviour of the aristocratic families towards these nunneries, the paper points out how Venetian ruling groups made use of the long-term relationship with nuns as a particularly useful instrument of political competition. The article also shows how some female monasteries were relevant social actors in the process of defi nition of Venetian identity, largely coinciding with their own ruling groups, and in particular with the aristocracy, and with the exercise of power.[it] L’articolo si propone di esaminare il processo di definizione dell’identità del ceto dirigente di Venezia nel periodo IX-XIII secolo e il ruolo occupato dalle relazioni tra le famiglie dell’aristocrazia che costituivano quel ceto e alcuni monasteri femminili. In questa prospettiva, innovativa nell’analisi della formazione dell’aristocrazia di Venezia, si prenderà in esame l’importante monastero femminile di San Zaccaria e si farà inoltre riferimento ad alcuni altri, sorti sulle isole della laguna tra XII e XIII secolo, espressione di un clima religioso e sociale nuovo e particolare. Attraverso l’analisi dei comportamenti adottati dalle famiglie aristocratiche nei confronti di questi monasteri, si dimostra che il ceto dirigente veneziano si servì delle relazioni costanti con le monache come di uno strumento della lotta politica particolarmente utilizzato dalle famiglie dell’aristocrazia della città. Si osserva anche che alcuni monasteri femminili furono a loro volta soggetti attivi

Managing incidentally diagnosed isolated factor VII deficiency perioperatively: a brief expert consensus report.

Science.gov (United States)

Sheth, Sujit; Soff, Gerald; Mitchell, Beau; Green, David; Kaicker, Shipra; Fireman, Fernando; Tugal, Oya; Guarini, Ludovico; Giardina, Patricia; Aledort, Louis

2012-02-01

While isolated factor VII (FVII) deficiency is being more frequently diagnosed owing to improved preoperative screening procedures, there is no specific guideline for perioperative management of such patients. To complicate the issue, FVII activity levels seem to correlate less well with the risk of hemorrhage than the patient's past and family bleeding history do. We have devised expert consensus recommendations for managing such patients perioperatively, taking into consideration the personal and family bleeding history, the FVII activity level and the inherent bleeding risk of the procedure itself. We hope that clinicians will find this a useful tool in the decision-making process, thereby limiting the use of recombinant factor VIIa to those who need it most, and preventing possible thrombotic complications in those without a strong indication for its use.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron- ... factors , such as if you are following a vegetarian eating pattern, your doctor may recommend changes to ...

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 ...

The ethylene response factor AtERF4 negatively regulates the iron deficiency response in Arabidopsis thaliana.

Directory of Open Access Journals (Sweden)

Wei Liu

Full Text Available Iron (Fe deficiency is one of many conditions that can seriously damage crops. Low levels of photosynthesis can lead to the degradation of chlorophyll content and impaired respiration in affected plants, which together cause poor growth and reduce quality. Although ethylene plays an important role in responses to Fe deficiency, a limited number of studies have been carried out on ethylene response factor (ERFs as components of plant regulation mechanisms. Thus, this study aimed to investigate the role of AtERF4 in plant responses to Fe deficiency. Results collected when Arabidopsis thaliana was grown under Fe deficient conditions as well as in the presence of 1-aminocyclopropane-1-carboxylic acid (ACC revealed that leaf chlorosis did not occur over short timescales and that chloroplast structural integrity was retained. At the same time, expression of the chlorophyll degradation-related genes AtPAO and AtCLH1 was inhibited and net H+ root flux was amplified. Our results show that chlorophyll content was enhanced in the mutant erf4, while expression of the chlorophyll degradation gene AtCLH1 was reduced. Ferric reductase activity in roots was also significantly higher in the mutant than in wild type plants, while erf4 caused high levels of expression of the genes AtIRT1 and AtHA2 under Fe deficient conditions. We also utilized yeast one-hybrid technology in this study to determine that AtERF4 binds directly to the AtCLH1 and AtITR1 promoter. Observations show that transient over-expression of AtERF4 resulted in rapid chlorophyll degradation in the leaves of Nicotiana tabacum and the up-regulation of gene AtCLH1 expression. In summary, AtERF4 plays an important role as a negative regulator of Fe deficiency responses, we hypothesize that AtERF4 may exert a balancing effect on plants subject to nutrition stress.

Risk Factors of Development of Iron-Deficiency Conditions in Moscow Adolescents

Directory of Open Access Journals (Sweden)

I. N. Zakharova

2015-01-01

Full Text Available The article presents data on prevalence structure and causes of iron-deficiency conditions (IDC in adolescents. The authors describe both literature data and the findings of their own study in the adolescents (n = 337 studying at Moscow comprehensive schools. Iron- deficiency anemia was revealed in 5.3% of the examined adolescents, latent iron deficiency — in 17%; vast majority of the last were females. The authors also determined the most common causes of IDC development in adolescents: growth spurt (according to the anamnesis, a source of chronic blood loss (prolonged and abundant menstruations [in girls], frequent nasal bleeding, vegetarianism, intense physical activity, diet compliance, excess weight, and obesity. 

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Mutations and phenotype in isolated glycerol kinase deficiency

Energy Technology Data Exchange (ETDEWEB)

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

1996-06-01

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

Energy Levels and Radiative Rates for Transitions in F-like Sc XIII and Ne-like Sc XII and Y XXX

Directory of Open Access Journals (Sweden)

Kanti M. Aggarwal

2018-05-01

Full Text Available Energy levels, radiative rates and lifetimes are reported for F-like Sc XIII and Ne-like Sc XII and Y XXX for which the general-purpose relativistic atomic structure package (GRASP has been adopted. For all three ions, limited data exist in the literature but comparisons have been made wherever possible to assess the accuracy of the calculations. In the present work, the lowest 102, 125 and 139 levels have been considered for the respective ions. Additionally, calculations have also been performed with the flexible atomic code (FAC to (particularly confirm the accuracy of energy levels.

Energy Levels and Radiative Rates for Transitions in F-like Sc XIII and Ne-like Sc XII and Y XXX

Science.gov (United States)

Aggarwal, Kanti

2018-05-01

Energy levels, radiative rates and lifetimes are reported for F-like Sc~XIII and Ne-like Sc~XII and Y~XXX for which the general-purpose relativistic atomic structure package ({\\sc grasp}) has been adopted. For all three ions limited data exist in the literature but comparisons have been made wherever possible to assess the accuracy of the calculations. In the present work the lowest 102, 125 and 139 levels have been considered for the respective ions. Additionally, calculations have also been performed with the flexible atomic code ({\\sc fac}) to (particularly) confirm the accuracy of energy levels.

Radiation protection in the 2000s - Theory and practice. Nordic Society for Radiation Protection. Proceedings of the XIII ordinary meeting

International Nuclear Information System (INIS)

Paile, W.

2003-06-01

The XIII ordinary meeting of the Nordic Society for Radiation Protection (NSFS) was held on August 25-29, 2002 in Turku (Aabo), Finland. The main topics included: protection of the environment, information and ethics, natural radiation, reactor safety and waste management, emergency preparedness, medical use of radiation, radiation in industrial use, education and certification, radiation biology and epidemiology, and radioecology and monitoring. The proceedings of the meeting includes all the papers of the oral presentations as well as the poster presentations. Papers presenting scientific results have been subject to a referee process with evaluation of independent experts

[Molecular genetic analysis for a pedigree with severe hereditary coagulation factor VII deficiency].

Science.gov (United States)

Ding, Qiu-lan; Wang, Hong-li; Wang, Xue-feng; Wang, Ming-shan; Fu, Qi-hua; Wu, Wen-man; Hu, Yi-qun; Wang, Zhen-yi

2003-10-01

To identify the genetic mutations of a severe inherited coagulation factor VII (FVII) deficiency pedigree. The diagnosis was validated by coagulant and haemostatic parameters. FVII gene mutations were screened in the propositus and his family members by DNA direct sequencing and confirmed by digestions of the restriction enzymes of the PCR production. Two heterozygous missense mutations were found in the propositus of the pedigree: a G to T transversion at position 9482 in exon 6 and a C to T mutation at position 11348 in exon 8 resulting in the amino acid substitution of Arg152 with Leu and Arg304 with Trp, respectively. A heterozygous single nucleotide deletion (C) at position 11487-11489(CCC) within exon 8 was identified, which predicted the frameshift mutation at position His351 followed by the changes of six corresponding amino acids and appearance of a premature protein caused by stop codon. The heterozygous mutations identified in the proband were derived from his father (Arg152 to Leu) and his mother (Arg304 to Trp mutation) and a heterozygous deletion (C) at position 11487-9(CCC). By tracing the other pedigree members, it was found that his grandmother had a heterozygous mutation of Arg304Trp and a heterozygous polymorphism of Arg353Gln and his grandfather had a heterozygous Arg152Leu mutation. Three heterozygous mutations were found in a pedigree with hereditary coagulation factor VII deficiency. Arg152Leu and deletion C at position 11487-9(CCC) were novel mutations.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Science.gov (United States)

Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

Enhanced response to radiotherapy in tumours deficient in the function of hypoxia-inducible factor-1

International Nuclear Information System (INIS)

Williams, Kaye J.; Telfer, Brian A.; Xenaki, Dia; Sheridan, Mary R.; Desbaillets, Isabelle; Peters, Hans J.W.; Honess, Davina; Harris, Adrian L.; Dachs, Gabi U.; Kogel, Albert van der; Stratford, Ian J.

2005-01-01

Background and purpose: To test the hypothesis that deficiency in expression of the transcription factor, HIF-1, renders tumours more radioresponsive than HIF-1 proficient tumours. Patients and methods: Tumours comprising mouse hepatoma cells lacking HIF-1β (and thereby HIF-1 function) were grown in nude mice and radiation-induced growth delay compared with that seen for wild-type tumours and tumours derived from HIF-1β negative cells where HIF-1 function had been restored. Results: The xenografts that lack HIF-1 activity take longer to establish their growth and are more radioresponsive than both parental xenografts and those with restored HIF-1 function. Pre-treatment of the HIF-1 deficient xenografts with the hypoxic radiosensitizer misonidazole, had little effect on radioresponse. In contrast this treatment radiosensitized the parental xenografts. In spite of this, no difference in oxygenation status was found between the tumour types as measured by Eppendorf O 2 -electrodes and by binding of the hypoxic cell marker NITP. Admixing wild type and HIF-1 deficient cells in the same tumour at ratios of 1 in 10 and 1 in 100 restores the growth of the mixed tumours to that of a 100% HIF-1 proficient cell population. However, when comparing the effects of radiation on the mixed tumours, radioresponsiveness is maintained in those tumours containing the high proportion of HIF-1 deficient cells. Conclusions: The differences in radioresponse do not correlate with tumour oxygenation, suggesting that the hypoxic cells within the HIF-1 deficient tumours do not contribute to the outcome of radiotherapy. Thus, hypoxia impacts on tumour radioresponsiveness not simply because of the physio-chemical mechanism of oxygen with radiation-induced radicals causing damage 'fixation', but also because hypoxia/HIF-1 promotes expression of genes that allow tumour cells to survive under these adverse conditions. Further, the results from the cell mixing experiments uncouple the growth

Averroes en la revolución intelectual del siglo XIII: bases para una reinterpretación de la Modernidad

OpenAIRE

Herráiz Oliva, Pilar

2016-01-01

El objetivo de esta tesis es mostrar cómo, en el siglo XIII, en la facultad de artes de la Universidad de París, el averroísmo, o el aristotelismo radical, emergió como movimiento filosófico que defendía la autonomía de la razón, de la filosofía y de la ciencia. Otro de los objetivos de esta tesis es mostrar que la secularización y la especialización de las distintas ciencias, tal y como las concebimos hoy, tienen su origen en la nueva forma de hacer filosofía que surge de las exigencias meto...

Magnesium deficiency and increased inflammation: current perspectives

Directory of Open Access Journals (Sweden)

Nielsen FH

2018-01-01

Full Text Available Forrest H Nielsen Research Nutritionist Consultant, Grand Forks, ND, USA Abstract: Animal studies have shown that magnesium deficiency induces an inflammatory response that results in leukocyte and macrophage activation, release of inflammatory cytokines and acute-phase proteins, and excessive production of free radicals. Animal and in vitro studies indicate that the primary mechanism through which magnesium deficiency has this effect is through increasing cellular Ca2+, which is the signal that results in the priming of cells to give the inflammatory response. Primary pro-inflammatory cytokines such as tumor necrosis factor-α and interleukin (IL-1; the messenger cytokine IL-6; cytokine responders E-selectin, intracellular adhesion molecule-1 and vascular cell adhesion molecule-1; and acute-phase reactants C-reactive protein and fibrinogen have been determined to associate magnesium deficiency with chronic low-grade inflammation (inflammatory stress. When magnesium dietary intake, supplementation, and/or serum concentration suggest/s the presence of magnesium deficiency, it often is associated with low-grade inflammation and/or with pathological conditions for which inflammatory stress is considered a risk factor. When magnesium intake, supplementation, and/or serum concentration suggest/s an adequate status, magnesium generally has not been found to significantly affect markers of chronic low-grade inflammation or chronic disease. The consistency of these findings can be modified by other nutritional and metabolic factors that affect inflammatory and oxidative stress. In spite of this, findings to date provide convincing evidence that magnesium deficiency is a significant contributor to chronic low-grade inflammation that is a risk factor for a variety of pathological conditions such as cardiovascular disease, hypertension, and diabetes. Because magnesium deficiency commonly occurs in countries where foods rich in magnesium are not consumed in

Effect of growth hormone-releasing factor on growth hormone release in children with radiation-induced growth hormone deficiency

International Nuclear Information System (INIS)

Lustig, R.H.; Schriock, E.A.; Kaplan, S.L.; Grumbach, M.M.

1985-01-01

Five male children who received cranial irradiation for extrahypothalamic intracranial neoplasms or leukemia and subsequently developed severe growth hormone (GH) deficiency were challenged with synthetic growth hormone-releasing factor (GRF-44), in an attempt to distinguish hypothalamic from pituitary dysfunction as a cause of their GH deficiency, and to assess the readily releasable GH reserve in the pituitary. In response to a pulse of GRF-44 (5 micrograms/kg intravenously), mean peak GH levels rose to values higher than those evoked by the pharmacologic agents L-dopa or arginine (6.4 +/- 1.3 ng/mL v 1.5 +/- 0.4 ng/mL, P less than .05). The peak GH value occurred at a mean of 26.0 minutes after administration of GRF-44. These responses were similar to those obtained in children with severe GH deficiency due to other etiologies (peak GH 6.3 +/- 1.7 ng/mL, mean 28.0 minutes). In addition, there was a trend toward an inverse relationship between peak GH response to GRF-44 and the postirradiation interval. Prolactin and somatomedin-C levels did not change significantly after the administration of a single dose of GRF-44. The results of this study support the hypothesis that cranial irradiation in children can lead to hypothalamic GRF deficiency secondary to radiation injury of hypothalamic GRF-secreting neurons. This study also lends support to the potential therapeutic usefulness of GRF-44 or an analog for GH deficiency secondary to cranial irradiation

Vitamin D deficiency: A potential risk factor for Clostridium difficile infection

Directory of Open Access Journals (Sweden)

Youssef D

2012-10-01

Full Text Available Dima Youssef,1 William B Grant,2 Alan N Peiris3,41Department of Internal Medicine, Division of Infectious Diseases, 2Sunlight, Nutrition and Health Research Center, San Francisco, CA USA; 3Department of Medicine, Mountain Home VAMC, 4Department of Medicine, East Tennessee State University, Johnson City, Tennessee, USAIn the July 3, 2012 issue of the journal of Risk Management and Healthcare Policy, Martinez et al present a nice review on Clostridium difficile (C. difficile infections.1 The different manifestations of this challenging disease along with the high cost and burden on the health care system were discussed. While the authors did an admirable job in discussing traditional risk factors, they do not mention vitamin D deficiency.View original paper by Martinez and colleagues.

The "multiple hormone deficiency" theory of aging: is human senescence caused mainly by multiple hormone deficiencies?

Science.gov (United States)

Hertoghe, T

2005-12-01

In the human body, the productions, levels and cell receptors of most hormones progressively decline with age, gradually putting the body into various states of endocrine deficiency. The circadian cycles of these hormones also change, sometimes profoundly, with time. In aging individuals, the well-balanced endocrine system can fall into a chaotic condition with losses, phase-advancements, phase delays, unpredictable irregularities of nycthemeral hormone cycles, in particular in very old or sick individuals. The desynchronization makes hormone activities peak at the wrong times and become inefficient, and in certain cases health threatening. The occurrence of multiple hormone deficits and spilling through desynchronization may constitute the major causes of human senescence, and they are treatable causes. Several arguments can be put forward to support the view that senescence is mainly a multiple hormone deficiency syndrome: First, many if not most of the signs, symptoms and diseases (including cardiovascular diseases, cancer, obesity, diabetes, osteoporosis, dementia) of senescence are similar to physical consequences of hormone deficiencies and may be caused by hormone deficiencies. Second, most of the presumed causes of senescence such as excessive free radical formation, glycation, cross-linking of proteins, imbalanced apoptosis system, accumulation of waste products, failure of repair systems, deficient immune system, may be caused or favored by hormone deficiencies. Even genetic causes such as limits to cell proliferation (such as the Hayflick limit of cell division), poor gene polymorphisms, premature telomere shortening and activation of possible genetic "dead programs" may have links with hormone deficiencies, being either the consequence, the cause, or the major favoring factor of hormone deficiencies. Third, well-dosed and -balanced hormone supplements may slow down or stop the progression of signs, symptoms, or diseases of senescence and may often

The evaluation of iron deficiency and anemia in male blood donors with other related factors

Directory of Open Access Journals (Sweden)

Yousefinejad Vahid

2010-01-01

Full Text Available Aims and Background: Iron deficiency is one of the most common nutritional disorders worldwide and blood donation may cause iron depletion. Limited studies with large sample size have been done on male donors. The aim of this study is to determine the prevalence of iron deficiency and iron deficiency anemia among male donors in the Kurdistan Organization of Blood Transfusion in Iran. Materials and Methods: This was a cross-sectional study. Sample size was 1184 blood donors selected by systematic random sampling. Hemoglobin, serum iron, serum ferritin, total iron banding capacity (TIBC and transferin saturation were measured in donors. Iron depletion, lack of iron stores, iron deficiency, iron deficiency anemia and anemia were evaluated among them. Data was analyzed with SPSS software and X΂, one-way ANOVA, and LSD test. Results: Iron deficiency, anemia, iron deficiency anemia, iron depletion and lack of iron resources were seen in 2.3, 4.08, 2.14, 22.76 and 4.66 percent respectively. There was a significant relationship of iron deficiency and iron deficiency anemia with instances of donation and interval from last donation (P < 0.05. A significant relationship was seen between iron deficiency and iron deficiency anemia among blood donors with more than ten times blood donation (P < 0.05. Conclusions: This study showed regular male donors require especial attention. Therefore, serum ferritin is recommended as a more adequate index to use for iron deficiency screening and planning purposes for iron supplementation among them.

[Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and o.Aro413Gin Polymorphism..

Science.gov (United States)

Suzuki, Keijiro; Yoshioka, Tomoko; Obara, Takehiro; Suwabe, Akira

2016-05-01

Congenital coagulation factor VII (FVII) deficiency is a rare hemorrhagic disease with an autosomal reces- sive inheritance pattern. We analyzed coagulation factor VII gene (F7) of a patient with FVII deficiency and used expression studies to investigate the effect of a missense mutation on FVII secretion. The proband, a 69-year-old Japanese woman, had a history of postpartum bleeding and excessive bleeding after dental extrac- tion. She was found to have mildly increased PT-INR (1.17) before an ophthalmic operation. FVII activity and antigen were reduced (29.0% and 32.8%). Suspecting that the proband was FVII deficient, we analyzed F7 of the patient. Sequence analysis revealed that the patient was heterozygous for a point mutation (p.Arg337Cys) in the catalytic domain and polymorphisms: the decanucleotide insertion at the promoter re- gion, dimorphism (c.525C >T) in exon 5, and p.Arg413Gln in exon 8. Haplotype analysis clarified that p.Arg337Cys was located on the p.Arg413 allele (Ml allele). The other allele had the p.Arg413Gln polymor- phism(M2 allele) which is known to produce less FVII. Expression studies revealed that p.Arg337Cys causes impairment of FVII secretion. Insufficient secretion of FVII arising from both the p.Arg337Cys/M1 allele and the p.Arg337/M2 allele might lower the FVII level of this patient(<50%). The FVII level in a heterozygous FVII deficient patient might be influenced by F7 polymorphisms on the normal allele. There- fore, genetic analyses are important for the diagnosis of heterozygous FVII deficiency.

Vitamin D deficiency and insulin resistance as risk factors for dyslipidemia in obese children.

Science.gov (United States)

Erol, Meltem; Bostan Gayret, Özlem; Hamilçıkan, Şahin; Can, Emrah; Yiğit, Özgu L

2017-04-01

Dyslipidemia is one of the major complications of obesity; vitamin D deficiency and insulin resistance are attending metabolic complications in dyslipidemic obese children. Objective. To determine if vitamin D deficiency and insulin resistance are risk factors for dyslipidemia in obese children. This study was conducted in the Department of Pediatrics at Bagcilar Training and Research Hospital in Istanbul, Turkey between 2014 and 2015. Obese patients whose age range was 8-14 were included in the study. The serum triglyceride, total cholesterol, low-density lipoprotein cholesterol, highdensity lipoprotein cholesterol, fasting glucose, insulin, alanine aminotransferase, vitamin D levels were measured; a liver ultrasonography was performed. Homeostatic model assessment (HOMA-IR), was used to calculate insulin resistance. 108 obese children were included; 39 (36.11%) had dyslipidemia. The average fasting blood glucose (88.74 ± 7.58 vs. 95.31 ± 6.82; p= 0.0001), insulin level (14.71 ± 12.44 vs. 24.39 ± 15.02; p= 0.0001) and alanine aminotransferase level (23.45 ± 11.18 vs. 30.4 ± 18.95; p= 0.018) were significantly higher in the children with dyslipidemia. In the dyslipidemic obese children, the average hepatosteatosis rate and HOMA-IR level were higher; 28 (71.9%) had hepatosteatosis, 37 (94.87%) had insulin resistance; the vitamin D levels were dyslipidemia. Obese children in our region exhibit low vitamin D and increased HOMA-IR levels, which are efficient risk factors of dyslipidemia.

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

Science.gov (United States)

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

2015-01-01

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

Risk Factors for Vitamin D Deficiency and Impact of Repletion in a Tertiary Care Inflammatory Bowel Disease Population.

Science.gov (United States)

Zullow, Samantha; Jambaulikar, Guruprasad; Rustgi, Ankur; Quezada, Sandra; Cross, Raymond K

2017-08-01

Many patients with inflammatory bowel disease (IBD) are vitamin D deficient. The purpose of our study was to identify risk factors for vitamin D deficiency in IBD and to assess the impact of vitamin D repletion on disease activity and quality of life (QOL). Patients with at least one 25-OH vitamin D level measured between 2004 and 2011 were included. Patients with a level vitamin D level of ≥30, 20-29, and vitamin D vitamin D level vitamin D levels. Non-Caucasian race and female gender are associated with low vitamin D. UC was associated with lower risk of vitamin D insufficiency. In CD, vitamin D repletion is associated with decreased disease activity and increased QOL.

Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.

Science.gov (United States)

Cerbone, Manuela; Dattani, Mehul T

2017-12-01

Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic). The highest risk is displayed by children with abnormalities in the Hypothalamo-Pituitary (H-P) region. Heterogeneous data have been reported on the type and timing of onset of additional pituitary hormone deficits, with TSH deficiency being most frequent and Diabetes Insipidus the least frequent additional deficit in the majority, but not all, of the studies. ACTH deficiency may gradually evolve at any time during follow-up in children or adults with childhood onset IGHD, particularly (but not only) in presence of H-P abnormalities and/or TSH deficiency. Hence there is a need in these patients for lifelong monitoring for ACTH deficiency. GH treatment unmasks central hypothyroidism mainly in patients with organic GHD, but all patients starting GH should have their thyroid function monitored closely. Main risk factors for development of CPHD include organic etiology, H-P abnormalities (in particular pituitary stalk abnormalities, empty sella and ectopic posterior pituitary), midline brain (corpus callosum) and optic nerves abnormalities, genetic defects and longer duration of follow-up. The current available evidence supports longstanding recommendations for the need, in all patients diagnosed with IGHD, of a careful and indefinite follow-up for additional pituitary hormone deficiencies. Copyright © 2017 Elsevier Ltd. All rights reserved.

EDITORIAL: XIII Mexican Workshop on Particles and Fields

Science.gov (United States)

Barranco, Juan; Contreras, Guillermo; Delepine, David; Napsuciale, Mauro

2012-08-01

Juan Barranco Physics Department, Guanajuato University, Loma del Bosque 103, col. Loma del Campestre, 37150, Leon (Mexico) jbarranc@fisica.ugto.mx Guillermo Contreras Departamento de Fisica Aplicada Centro de Investigacion y de Estudios Avanzados del Instituto Politecnico Nacional, Merida (Mexico) jgcn@mda.cinvestav.mx David Delepine Physics Department, Guanajuato University, Loma del Bosque 103, col. Loma del Campestre, 37150, Leon (Mexico) delepine@fisica.ugto.mx Mauro Napsuciale Physics Department, Guanajuato University, Loma del Bosque 103, col. Loma del Campestre, 37150, Leon (Mexico) mauro@fisica.ugto.mx The XIII Mexican Workshop on Particles and Fields (MWPF) took place from 20-26 October 2011, in the city of León, Guanajuato, México. This is a biennial meeting organized by the Division of Particles and Fields of the Mexican Physical Society designed to gather specialists in different areas of high energy physics to discuss the latest developments in the field. The thirteenth edition of this meeting was hosted by the Department of Cultural Studies of Guanajuato University in a nice environment dedicated to the Arts and Culture. The XIII MWPF was organized by three working groups who organized the corresponding sessions around three topics. The first one was Strings, Cosmology, Astroparticles and Physics Beyond the Standard Model. In this category we included: Cosmic Rays, Gamma Ray Bursts, Physics Beyond the Standard Model (theory and experimental searches), Strings and Cosmology. The working group for this topic was formed by Arnulfo Zepeda, Oscar Loaiza, Axel de la Macorra and Myriam Mondragón. The second topic was Hadronic Matter which included Perturbative QCD, Jets and Diffractive Physics, Hadronic Structure, Soft QCD, Hadron Spectroscopy, Heavy Ion Collisions and Soft Physics at Hadron Colliders, Lattice Results and Instrumentation. The working group for this topic was integrated by Wolfgang Bietenholz and Mariana Kirchbach. The third topic was

Folate Deficiency Could Restrain Decidual Angiogenesis in Pregnant Mice

Directory of Open Access Journals (Sweden)

Yanli Li

2015-08-01

Full Text Available The mechanism of birth defects induced by folate deficiency was focused on mainly in fetal development. Little is known about the effect of folate deficiency on the maternal uterus, especially on decidual angiogenesis after implantation which establishes vessel networks to support embryo development. The aim of this study was to investigate the effects of folate deficiency on decidual angiogenesis. Serum folate levels were measured by electrochemiluminescence. The status of decidual angiogenesis was examined by cluster designation 34 (CD34 immunohistochemistry and the expression of angiogenic factors, including vascular endothelial growth factor A (VEGFA, placental growth factor (PLGF, and VEGF receptor 2 (VEGFR2 were also tested. Serum levels of homocysteine (Hcy, follicle stimulating hormone (FSH, luteinizing hormone (LH, prolactin (PRL, progesterone (P4, and estradiol (E2 were detected by Enzyme-linked immunosorbent assay. The folate-deficient mice had a lower folate level and a higher Hcy level. Folate deficiency restrained decidual angiogenesis with significant abnormalities in vascular density and the enlargement and elongation of the vascular sinus. It also showed a reduction in the expressions of VEGFA, VEGFR2, and PLGF. In addition, the serum levels of P4, E2, LH, and PRL were reduced in folate-deficient mice, and the expression of progesterone receptor (PR and estrogen receptor α (ERα were abnormal. These results indicated that folate deficiency could impaire decidual angiogenesis and it may be related to the vasculotoxic properties of Hcy and the imbalance of the reproductive hormone.

Improved Insulin Sensitivity despite Increased Visceral Adiposity in Mice Deficient for the Immune Cell Transcription Factor T-bet

Science.gov (United States)

Stolarczyk, Emilie; Vong, Chi Teng; Perucha, Esperanza; Jackson, Ian; Cawthorne, Michael A.; Wargent, Edward T.; Powell, Nick; Canavan, James B.; Lord, Graham M.; Howard, Jane K.

2013-01-01

Summary Low-grade inflammation in fat is associated with insulin resistance, although the mechanisms are unclear. We report that mice deficient in the immune cell transcription factor T-bet have lower energy expenditure and increased visceral fat compared with wild-type mice, yet paradoxically are more insulin sensitive. This striking phenotype, present in young T-bet−/− mice, persisted with high-fat diet and increasing host age and was associated with altered immune cell numbers and cytokine secretion specifically in visceral adipose tissue. However, the favorable metabolic phenotype observed in T-bet-deficient hosts was lost in T-bet−/− mice also lacking adaptive immunity (T-bet−/−xRag2−/−), demonstrating that T-bet expression in the adaptive rather than the innate immune system impacts host glucose homeostasis. Indeed, adoptive transfer of T-bet-deficient, but not wild-type, CD4+ T cells to Rag2−/− mice improved insulin sensitivity. Our results reveal a role for T-bet in metabolic physiology and obesity-associated insulin resistance. PMID:23562076

Prevalence and Correlates of Vitamin D Deficiency and Insufficiency in Luxembourg Adults: Evidence from the Observation of Cardiovascular Risk Factors (ORISCAV-LUX Study

Directory of Open Access Journals (Sweden)

Ala'a Alkerwi

2015-08-01

Full Text Available Evidence on vitamin D status and related risk factors in Luxembourg adults is lacking. This study aimed to determine the prevalence of vitamin D deficiency and insufficiency and related risk factors among healthy adults in Luxembourg. Based on clinicians’ observations, it was hypothesized that vitamin D deficiency and insufficiency might be common in our population, constituting a significant public health concern. A nationally representative random sample of 1432 adults was enrolled in the ORISCAV-LUX study, 2007–2008. The participants were divided into four categories according to their serum concentrations of 25-hydroxyvitamin D [25(OHD]. Descriptive, univariate and multivariate statistical analyses used weighted methods to account for the stratified sampling scheme. Only 17.1% of the population had a “desirable” serum 25(OHD level ≥75 nmol/L, whereas 27.1% had “inadequate” [serum 25(OHD level 50–74 nmol/L], 40.4% had “insufficient” [serum 25(OHD level 25–49 nmol/L], and 15.5% had “deficient” [serum 25(OHD level <25 nmol/L]. The prevalence of vitamin D deficiency was greater among current smokers, obese subjects, those having reduced HDL-cholesterol level and fair/poor self-perception of health, compared to their counterparts. The prevalence of vitamin D insufficiency was additionally higher among nondrinkers of alcohol, Portuguese and subjects from non-European countries. The final multivariate logistic regression analyses revealed that smoking status and obesity were independent correlates of vitamin D deficiency and insufficiency, respectively. Inadequate vitamin D status is highly prevalent among adults in Luxembourg and is associated with specific lifestyle factors. Along with the effect of vitamin D deficiency and insufficiency on the risk of several diseases, cancer and mortality, our findings have practical implications for public health dietary recommendations, and of particular importance for healthcare

Glucose 6 phosphate dehydrogenase deficiency in adults

International Nuclear Information System (INIS)

Khan, M.

2004-01-01

Objective: To determine the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in adults presented with anemia. Subjects and Methods: Eighteen months admission data was reviewed for G6PD deficiency as a cause of anemia. Anemia was defined by world health organization (WHO) criteria as haemoglobin less than 11.3 gm%. G6PD activity was measured by Sigma dye decolorisation method. All patients were screened for complications of hemolysis and its possible cause. Patients with more than 13 years of age were included in the study. Results: Out of 3600 patients admitted, 1440 were found anaemic and 49 as G6PD deficient. So the frequency of G6PD deficiency in anaemic patients was 3.4% and the overall frequency is 1.36%. G6PD deficiency among males and females was three and six percent respectively. Antimalarials and antibiotics containing sulphonamide group were the most common precipitating factors for hemolysis. Anemia and jaundice were the most common presentations while malaria was the most common associated disease. Acute renal failure was the most severe complication occurring in five patients with two deaths. Conclusion: G6PD deficiency is a fairly common cause of anemia with medicine as common precipitating factor for hemolysis. Such complications can be avoided with early recognition of the disease and avoiding indiscriminate use of medicine. (author)

Transient Ischemic Attack Caused by Iron Deficiency Anemia

Directory of Open Access Journals (Sweden)

Ufuk Emre

2006-02-01

Full Text Available Transient Ischemic Attack Caused by Iron Deficiency Anemia Transient ischemic attacks are episodes of transient focal ischemia involving the brain or brainstem. They are commonly two to thirty minutes in duration and lasting less than 24 hours. Anemia of iron deficiency isn’t frequently cause for transient ischemic attack. It has been reported as a risk factor for childhood ischemic strokes. In the iron deficiency anemia, T‹A may develop as result of hypercoagulable state and increased viscosity that is caused by anemic hypoxia that is result of reduce hemoglobine level, seconder thrombosis and microcytose As iron deficiency anemia has been reported so rarely in adult patients with transient ischemic attacks as a cause, we aimed to discuss the clinical and outcome features of two cases with iron deficiency anemia and transient ischemic attacks in this study. Materials and methods: Routine neurologic examination, biochemical screen, serological tests, vasculitic markers, thyroid function tests, vitamin B 12 level, cranial imaging, vertebral carotid doppler USG examination was conducted in the two patients. Anemia of iron deficiency was found as the only risk factor for TIA and the two patients were treated with replacement of iron and antiagregan therapy. Neurological examination revealed no abnormality through the two years of follow-up. The iron deficiency anemia may be cause of many neurologic problems such a irritability, lethargy, headache, development retardation except from T‹A. In the iron deficiency anemia, early diagnosis and treatment is important

Management of factor VII-deficient patients undergoing joint surgeries--preliminary results of locally developed treatment regimen.

Science.gov (United States)

Windyga, J; Zbikowski, P; Ambroziak, P; Baran, B; Kotela, I; Stefanska-Windyga, E

2013-01-01

Inherited factor VII (FVII) deficiency is a rare coagulation disorder with variable haemorrhagic manifestations. In severely affected cases spontaneous haemarthroses leading to advanced arthropathy have been observed. Such cases may require surgery. Therapeutic options for bleeding prevention in FVII deficient patients undergoing surgery comprise various FVII preparations but the use of recombinant activated factor VII (rFVIIa) seems to be the treatment of choice. To present the outcome of orthopaedic surgery under haemostatic coverage of rFVIIa administered according to the locally established treatment regimen in five adult patients with FVII baseline plasma levels below 10 IU dL(-1). Two patients required total hip replacement (THR); three had various arthroscopic procedures. Recombinant activated factor VII was administered every 8 h on day of surgery (D0) followed by every 12-24 h for the subsequent 9-14 days, depending on the type of surgery. Factor VII plasma coagulation activity (FVII:C) was determined daily with no predefined therapeutic target levels. Doses of rFVIIa on D0 ranged from 18 to 37 μg kg(-1) b.w. and on the subsequent days--from 13 to 30 μg kg(-1) b.w. Total rFVIIa dose per procedure ranged from 16 to 37.5 mg, and the total number of doses per procedure was 16-31. None of our patients developed excessive bleeding including those in whom FVII:C trough levels returned nearly to the baseline level on the first post-op day. Preliminary results demonstrate that rFVIIa administered according to our treatment regimen is an effective and safe haemostatic agent for hypoproconvertinaemia patients undergoing orthopaedic surgery. © 2012 Blackwell Publishing Ltd.

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

Science.gov (United States)

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

2015-01-01

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

Nutritional deficiency in general practice: a systematic review

NARCIS (Netherlands)

Wayenburg, van C.A.M.; Laar, van de F.A.; Weel, van C.; Staveren, van W.A.; Binsbergen, van J.J.

2005-01-01

Objective: Nutritional deficiency is an independent risk factor for mortality. Despite its clinical relevance, the prevalence in a primary care setting is poorly documented. We performed a systematic review of reported prevalence and clinical assessment of nutritional deficiency in general practice.

Extreme Ultraviolet Emission Lines of Iron Fe XI-XIII

Science.gov (United States)

Lepson, Jaan; Beiersdorfer, P.; Brown, G. V.; Liedahl, D. A.; Brickhouse, N. S.; Dupree, A. K.

2013-04-01

The extreme ultraviolet (EUV) spectral region (ca. 20--300 Å) is rich in emission lines from low- to mid-Z ions, particularly from the middle charge states of iron. Many of these emission lines are important diagnostics for astrophysical plasmas, providing information on properties such as elemental abundance, temperature, density, and even magnetic field strength. In recent years, strides have been made to understand the complexity of the atomic levels of the ions that emit the lines that contribute to the richness of the EUV region. Laboratory measurements have been made to verify and benchmark the lines. Here, we present laboratory measurements of Fe XI, Fe XII, and Fe XIII between 40-140 Å. The measurements were made at the Lawrence Livermore electron beam ion trap (EBIT) facility, which has been optimized for laboratory astrophysics, and which allows us to select specific charge states of iron to help line identification. We also present new calculations by the Hebrew University - Lawrence Livermore Atomic Code (HULLAC), which we also utilized for line identification. We found that HULLAC does a creditable job of reproducing the forest of lines we observed in the EBIT spectra, although line positions are in need of adjustment, and line intensities often differed from those observed. We identify or confirm a number of new lines for these charge states. This work was supported by the NASA Solar and Heliospheric Program under Contract NNH10AN31I and the DOE General Plasma Science program. Work was performed in part under the auspices of the Department of Energy by Lawrence Livermore National Laboratory under Contract DEAC52-07NA27344.

Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.

Science.gov (United States)

Nuzzo, F; Bulato, C; Nielsen, B I; Lee, K; Wielders, S J; Simioni, P; Key, N S; Castoldi, E

2015-03-01

Coagulation factor V (FV) deficiency is a rare autosomal recessive bleeding disorder. We investigated a patient with severe FV deficiency (FV:C mutation in exon 4 (c.578G>C, p.Cys193Ser), predicting the abolition of a conserved disulphide bridge, and an apparently synonymous variant in exon 8 (c.1281C>G). The observation that half of the patient's F5 mRNA lacked the last 18 nucleotides of exon 8 prompted us to re-evaluate the c.1281C>G variant for its possible effects on splicing. Bioinformatics sequence analysis predicted that this transversion would activate a cryptic donor splice site and abolish an exonic splicing enhancer. Characterization in a F5 minigene model confirmed that the c.1281C>G variant was responsible for the patient's splicing defect, which could be partially corrected by a mutation-specific morpholino antisense oligonucleotide. The aberrantly spliced F5 mRNA, whose stability was similar to that of the normal mRNA, encoded a putative FV mutant lacking amino acids 427-432. Expression in COS-1 cells indicated that the mutant protein is poorly secreted and not functional. In conclusion, the c.1281C>G mutation, which was predicted to be translationally silent and hence neutral, causes FV deficiency by impairing pre-mRNA splicing. This finding underscores the importance of cDNA analysis for the correct assessment of exonic mutations. © 2014 John Wiley & Sons Ltd.

Is GERD a Factor in Osteonecrosis of the Jaw? Evidence of Pathology Linked to G6PD Deficiency and Sulfomucins

Directory of Open Access Journals (Sweden)

Stephanie Seneff

2016-01-01

Full Text Available Osteonecrosis of the jaw (ONJ, a rare side effect of bisphosphonate therapy, is a debilitating disorder with a poorly understood etiology. FDA’s Adverse Event Reporting System (FAERS provides the opportunity to investigate this disease. Our goals were to analyze FAERS data to discover possible relationships between ONJ and specific conditions and drugs and then to consult the scientific literature to deduce biological explanations. Our methodology revealed a very strong association between gastroesophageal reflux and bisphosphonate-induced ONJ, suggesting acidosis as a key factor. Overgrowth of acidophilic species, particularly Streptococcus mutans, in the oral microbiome in the context of insufficient acid buffering due to impaired salivary glands maintains the low pH that sustains damage to the mucosa. Significant associations between ONJ and adrenal insufficiency, vitamin C deficiency, and Sjögren’s syndrome were found. Glucose 6 phosphate dehydrogenase (G6PD deficiency can explain much of the pathology. An inability to maintain vitamin C and other antioxidants in the reduced form leads to vascular oxidative damage and impaired adrenal function. Thus, pathogen-induced acidosis, hypoxia, and insufficient antioxidant defenses together induce ONJ. G6PD deficiency and adrenal insufficiency are underlying factors. Impaired supply of adrenal-derived sulfated sterols such as DHEA sulfate may drive the disease process.

The role of ZIP transporters and group F bZIP transcription factors in the Zn-deficiency response of wheat (Triticum aestivum).

Science.gov (United States)

Evens, Nicholas P; Buchner, Peter; Williams, Lorraine E; Hawkesford, Malcolm J

2017-10-01

Understanding the molecular basis of zinc (Zn) uptake and transport in staple cereal crops is critical for improving both Zn content and tolerance to low-Zn soils. This study demonstrates the importance of group F bZIP transcription factors and ZIP transporters in responses to Zn deficiency in wheat (Triticum aestivum). Seven group F TabZIP genes and 14 ZIPs with homeologs were identified in hexaploid wheat. Promoter analysis revealed the presence of Zn-deficiency-response elements (ZDREs) in a number of the ZIPs. Functional complementation of the zrt1/zrt2 yeast mutant by TaZIP3, -6, -7, -9 and -13 supported an ability to transport Zn. Group F TabZIPs contain the group-defining cysteine-histidine-rich motifs, which are the predicted binding site of Zn 2+ in the Zn-deficiency response. Conservation of these motifs varied between the TabZIPs suggesting that individual TabZIPs may have specific roles in the wheat Zn-homeostatic network. Increased expression in response to low Zn levels was observed for several of the wheat ZIPs and bZIPs; this varied temporally and spatially suggesting specific functions in the response mechanism. The ability of the group F TabZIPs to bind to specific ZDREs in the promoters of TaZIPs indicates a conserved mechanism in monocots and dicots in responding to Zn deficiency. In support of this, TabZIPF1-7DL and TabZIPF4-7AL afforded a strong level of rescue to the Arabidopsis hypersensitive bzip19 bzip23 double mutant under Zn deficiency. These results provide a greater understanding of Zn-homeostatic mechanisms in wheat, demonstrating an expanded repertoire of group F bZIP transcription factors, adding to the complexity of Zn homeostasis. © 2017 The Authors The Plant Journal published by John Wiley & Sons Ltd and Society for Experimental Biology.

Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan.

Science.gov (United States)

Alam, Muhammad Matloob; Moiz, Bushra; Rehman, Karim Abdur; Jethwani, Priyanka; Fadoo, Zehra

2015-10-01

This study presents the demographics, clinical spectrum, and outcome of patients with congenital factor VII (FVII) deficiency at a tertiary care center over a period of 12 years. Of the 49 patients, 27 (55%) patients were males. Consanguinity was found in 92% of the patients. The median age of symptom onset was 2.4 (interquartile range [IQR]: 1.1-6.5) years with a median age of 5.8 (IQR: 3.1-10) years at diagnosis. Life-threatening complications like intracranial bleeding (ICB) and intra-abdominal bleeding (IAB) were observed in 8 (16.4%) patients. We found that 11 (55%) of the 20 patients with FVII coagulant activity (FVIIc) 5% were affected by severe symptoms. Age factor associated with development of life-threatening bleeding episodes (P = .042; odds ratio 6.46). Overall, 4 (8.2%) died as a consequence of ICB (3 patients) and IAB (1 patient). © The Author(s) 2013.

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

[Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)].

Science.gov (United States)

Sekiya, Akiko; Morishita, Eriko; Maruyama, Keiko; Asakura, Hidesaku; Nakao, Shinji; Ohtake, Shigeki

2012-03-01

Congenital factor VII (FVII) deficiency is a bleeding disorder that requires optimal hemostatic management for each case due to its wide variety of bleeding symptoms. We experienced a patient with inherited FVII deficiency who demonstrated different FVII activities depending on tissue thromboplastins used for assays. An 82-year-old woman without any episodes of abnormal bleeding was found to have different FVII activities of 1.4% and 32% when assayed using thromboplastins from rabbit brain and human placenta, respectively. DNA sequencing analysis revealed a homozygous missense mutation of G10828A (FVII Padua) that caused an amino acid substitution of Arg304 to Gln (R304Q). Carriers of 304Q alleles are usually clinically asymptomatic and do not require FVII replacement therapies even in cases of homozygotes. In case a prolonged prothrombin time or reduced FVII activity is detected, re-examination using thromboplastins of other sources can be helpful for preliminary diagnosis of R304Q, in order to prevent unnecessary FVII replacement therapies.

Neuroendocrine and Cardiovascular Risk Factors in Adults with Pituitary Growth Hormone Deficiency (Literature Review

Directory of Open Access Journals (Sweden)

S.I. Ismailov

2013-08-01

Full Text Available In this article authors discussed the results of literature review, which has been dedicated to study of different complications of growth hormone deficiency in adults, referring to the literature of the last 10–15 years. Based on this analysis, the authors concluded that in adults with growth hormone deficiency there is an adverse profile of cardiovascular risk. Patients with growth hormone deficiency have an adverse lipid profile, elevated body mass index, increased waist circumference and a high risk of hypertension. These disorders are likely to explain the increased cardiovascular mortality observed in patients with hypopituitarism, regardless of the etiology of growth hormone deficiency in adults.

Familial lipoprotein lipase deficiency

Science.gov (United States)

... lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood. Risk factors include a family history of lipoprotein lipase deficiency. The condition is usually ...

The clinical expression of hereditary protein C and protein S deficiency: : a relation to clinical thrombotic risk-factors and to levels of protein C and protein S

NARCIS (Netherlands)

Henkens, C. M. A.; van der Meer, J.; Hillege, J. L.; Bom, V. J. J.; Halie, M. R.; van der Schaaf, W.

We investigated 103 first-degree relatives of 13 unrelated protein C or protein S deficient patients to assess the role of additional thrombotic risk factors and of protein C and protein S levels in the clinical expression of hereditary protein C and protein S deficiency. Fifty-seven relatives were

Growth hormone deficiency and hyperthermia during exercise

DEFF Research Database (Denmark)

Juul, A; Hjortskov, N; Jepsen, Leif

1995-01-01

-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.......001]. Consequently, the core temperatures of the patients increased significantly after exercise compared with those of the CTs [38.3 C (0.10 C) (MPD) and 38.1 C (0.06 C) (isolated GH deficiency) vs. 37.5 C (0.2 C) (CTs) (P temperature increased significantly during exercise in the patients...... but remained unaltered in the CTs. Sweat secretion rates, as determined by the pilocarpine method, were significantly lower in the MPD patients [77 (SE +/- 10) mg/30 min] than in the CTs [115 (SE +/- 7) mg/30 min] (P

FXIIIA and TGF-beta over-expression produces normal musculo-skeletal phenotype in TG2-/- mice.

Science.gov (United States)

Tarantino, U; Oliva, F; Taurisano, G; Orlandi, A; Pietroni, V; Candi, E; Melino, G; Maffulli, N

2009-04-01

Transglutaminase (TGs) enzymes and proteins crosslinking have for long time been implicated in the formation of hard tissue development, matrix maturation and mineralization. Among the TGs family members, in the context of connective tissue formation, TG2 and Factor XIII are expressed in cartilage by hypertrophic chondrocytes. Here, we analyse the morphological consequences of TG2 deficiency, during the development of skeletal elements. When TG2 is absent, there are not gross abnormalities in the development of the skeletal system, probably from compensatory mechanisms resulting in increased expression of FXIIIA and TGF-beta 1. In vivo other TGs may be involved in promoting chondrocytes and osteoblast differentiation and matrix mineralisation.

Iron deficiency alters megakaryopoiesis and platelet phenotype independent of thrombopoietin.

Science.gov (United States)

Evstatiev, Rayko; Bukaty, Adam; Jimenez, Kristine; Kulnigg-Dabsch, Stefanie; Surman, Lidia; Schmid, Werner; Eferl, Robert; Lippert, Kathrin; Scheiber-Mojdehkar, Barbara; Kvasnicka, Hans Michael; Khare, Vineeta; Gasche, Christoph

2014-05-01

Iron deficiency is a common cause of reactive thrombocytosis, however, the exact pathways have not been revealed. Here we aimed to study the mechanisms behind iron deficiency-induced thrombocytosis. Within few weeks, iron-depleted diet caused iron deficiency in young Sprague-Dawley rats, as reflected by a drop in hemoglobin, mean corpuscular volume, hepatic iron content and hepcidin mRNA in the liver. Thrombocytosis established in parallel. Moreover, platelets produced in iron deficient animals displayed a higher mean platelet volume and increased aggregation. Bone marrow studies revealed subtle alterations that are suggestive of expansion of megakaryocyte progenitors, an increase in megakaryocyte ploidy and accelerated megakaryocyte differentiation. Iron deficiency did not alter the production of hematopoietic growth factors such as thrombopoietin, interleukin 6 or interleukin 11. Megakaryocytic cell lines grown in iron-depleted conditions exhibited reduced proliferation but increased ploidy and cell size. Our data suggest that iron deficiency increases megakaryopoietic differentiation and alters platelet phenotype without changes in megakaryocyte growth factors, specifically TPO. Iron deficiency-induced thrombocytosis may have evolved to maintain or increase the coagulation capacity in conditions with chronic bleeding. Copyright © 2014 Wiley Periodicals, Inc.

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

African Journals Online (AJOL)

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

Effects of growth hormone and insulin-like growth factor 1 deficiency on ageing and longevity.

Science.gov (United States)

Laron, Zvi

2002-01-01

Present knowledge on the effects of growth hormone (GH)/insulin-like growth hormone (IGF)1 deficiency on ageing and lifespan are reviewed. Evidence is presented that isolated GH deficiency (IGHD), multiple pituitary hormone deficiencies (MPHD) including GH, as well as primary IGE1 deficiency (GH resistance, Laron syndrome) present signs of early ageing such as thin and wrinkled skin, obesity, hyperglycemia and osteoporosis. These changes do not seem to affect the lifespan, as patients reach old age. Animal models of genetic MPHD (Ames and Snell mice) and GH receptor knockout mice (primary IGF1 deficiency) also have a statistically significant higher longevity compared to normal controls. On the contrary, mice transgenic for GH and acromegalic patients secreting large amounts of GH have premature death. In conclusion longstanding GH/IGF1 deficiency affects several parameters of the ageing process without impairing lifespan, and as shown in animal models prolongs longevity. In contrast high GH/IGF1 levels accelerate death.

Learning lessons from accidents with a human and organisational factors perspective: deficiencies and failures of operating experience feedback systems

International Nuclear Information System (INIS)

Dechy, N.; Rousseau, J.M.; Jeffroy, F.

2012-01-01

This paper aims at reminding the failures of operating experience feedback (OEF) systems through the lessons of accidents and provides a framework for improving the efficiency of OEF processes. The risk is for example to miss lessons from other companies and industrial sectors, or to miss the implementation of adequate corrective actions with the risk to repeat accidents. Most of major accidents have been caused by a learning failure or other organisational factors as a contributing cause among several root causes. Some of the recurring organisational factors are: -) poor recognition of critical components, of critical activities or deficiency in anticipation and detection of errors, -) excessive production pressure, -) deficiency of communication or lack of quality of dialogue, -) Excessive formalism, -) organisational complexity, -) learning deficiencies (OEF, closing feedback loops, lack of listening of whistle-blowers). Some major accidents occurred in the nuclear industry. Although the Three Mile Island accident has multiple causes, in particular, an inappropriate design of the man-machine interface, it is a striking example of the loss of external lessons from incidents. As for Fukushima it is too early to have established evidence on learning failures. The systematic study and organisational analysis of OEF failures in industrial accidents whatever their sector has enabled us to provide a framework for OEF improvements. Five key OEF issues to improve in priority: 1) human and organisational factors analysis of the root causes of the events, 2) listening to the field staff, dissenting voices and whistle-blowers, 3) monitoring of the external events that provide generic lessons, 4) building an alive memory through a culture of accidents with people who become experiences pillars, and 5) the setting of external audit or organisational analysis of the OEF system by independent experts. The paper is followed by the slides of the presentation

Iodine deficiency and endemic goitre in the Langkloof area of South ...

African Journals Online (AJOL)

available at the local grocery stores but only small percentages of households ..... dietary factor or factors, did, however, improve the situation in this area during the .... guarantee success in eradicating iodine deficiency and endemic goitre. ... lB, ads. The Prevenrion and Control of lod;ne Deficiency Disorders. Amsterdam: ...

Anemia and iron deficiency before and after bariatric surgery.

Science.gov (United States)

Salgado, Wilson; Modotti, Caue; Nonino, Carla Barbosa; Ceneviva, Reginaldo

2014-01-01

Iron deficiency and anemia are changes often associated with obesity. Bariatric surgery is responsible for increasing the iron loss and reducing its absorption. The objective of this study was to evaluate anemia and iron deficiency before and after bariatric surgery and to relate them to possible predisposing factors. A retrospective study was conducted on obese patients submitted to open Roux-en-Y gastric bypass, in which clinical and laboratory data were obtained up to 48 months postoperatively. Patients were divided into groups according to the presence or absence of anemia and to the presence or absence of iron deficiency (even without anemia), and all data were compared between these groups. Preoperatively, 21.5% of patients had anemia and 20% had iron deficiency. The number of patients with anemia did not vary through the 4 years of the study, but ferritin levels significantly decreased with time (Panemia. Female gender was a variable associated with a greater incidence of iron deficiency. Anemia and iron deficiency are frequent in obese patients and must be treated before surgery. Medical and nutritional surveillance is important in the postoperative period of bariatric surgery. Management of each condition must be directed at correcting the 2 major sources of iron deficiency and anemia: food intolerance (mostly meat intolerance) and losses (frequently due to menstruation). These are the factors more related to iron deficient anemia. Copyright © 2014 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.

Science.gov (United States)

Hao, Xiuping; Cheng, XiaoLi; Ye, Jiajia; Wang, Yingyu; Yang, LiHong; Wang, Mingshan; Jin, Yanhui

2016-06-01

Congenital coagulation factor VII (FVII) deficiency is a rare disorder caused by mutation in F7 gene. Herein, we reported a patient who had unexplained hematuria and vertigo with consanguineous parents. He has been diagnosed as having FVII deficiency based on the results of reduced FVII activity (2.0%) and antigen (12.8%). The thrombin generation tests verified that the proband has obstacles in producing thrombin. Direct sequencing analysis revealed a novel homozygous missense mutation p.Trp284Gly. Also noteworthy is the fact that the mutational residue belongs to structurally conserved loop 140s, which majorly undergo rearrangement after FVII activation. Model analysis indicated that the substitution disrupts these native hydrophobic interactions, which are of great importance to the conformation in the activation domain of FVIIa.

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

Science.gov (United States)

Gordon, Marilyn M; Brada, Nancy; Remacha, Angel; Badell, Isabel; del Río, Elisabeth; Baiget, Montserrat; Santer, René; Quadros, Edward V; Rothenberg, Sheldon P; Alpers, David H

2004-01-01

Congenital intrinsic factor (IF) deficiency is a disorder characterized by megaloblastic anemia due to the absence of gastric IF (GIF, GenBank NM_005142) and GIF antibodies, with probable autosomal recessive inheritance. Most of the reported patients are isolated cases without genetic studies of the parents or siblings. Complete exonic sequences were determined from the PCR products generated from genomic DNA of five affected individuals. All probands had the identical variant (g.68A>G) in the second position of the fifth codon in the coding sequence of the gene that introduces a restriction enzyme site for Msp I and predicts a change in the mature protein from glutamine(5) (CAG) to arginine(5) (CGG). Three subjects were homozygous for this base exchange and two subjects were heterozygous, one of which was apparently a compound heterozygote at positions 1 and 2 of the fifth codon ([g.67C>G] + [g.68A>G]). The other patient, heterozygous for position 2, had one heterozygous unaffected parent. Most parents were heterozygous for this base exchange, confirming the pattern of autosomal recessive inheritance for congenital IF deficiency. cDNA encoding GIF was mutated at base pair g.68 (A>G) and expressed in COS-7 cells. The apparent size, secretion rate, and sensitivity to pepsin hydrolysis of the expressed IF were similar to native IF. The allelic frequency of g.68A>G was 0.067 and 0.038 in two control populations. This sequence aberration is not the cause of the phenotype, but is associated with the genotype of congenital IF deficiency and could serve as a marker for inheritance of this disorder. Copyright 2003 Wiley-Liss, Inc.

Scientific session NRNU MEPHI-2010. XIII International Telecommunication Conference of students and young scientists Young people and science. Book of abstracts. In three parts. Part 1

International Nuclear Information System (INIS)

2010-01-01

In the collection of works there are the abstracts of reports included in the program of XIII International Telecommunication Conference of students and young scientists Young people and science which took place in the Internet in November-December, 2009 on the NRNU MEPhI site http://www.molod.mephi.ru/. The topics of the conference cover a wide range of problems: applied physics and energetics, ecology, development of new materials, medical physics, nanotechnologies, automatics and electronics, information-telecommunication systems and others [ru

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

Directory of Open Access Journals (Sweden)

Bernadette N. Ng’eno

2017-01-01

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

Syndromes associated with nutritional deficiency and excess.

Science.gov (United States)

Jen, Melinda; Yan, Albert C

2010-01-01

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

Disease: H01759 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available eration of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contras...t, non-autoimmune hemorrhagic acquired F13 deficiency (HAF13D) is a less severe bleeding...XIII requires immunosuppressive therapy to eradicate autoantibodies in addition to F13 replacement therapy to arrest bleeding

De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.

Science.gov (United States)

Suzuki, Erina; Yatsuga, Shuichi; Igarashi, Maki; Miyado, Mami; Nakabayashi, Kazuhiko; Hayashi, Keiko; Hata, Kenichirou; Umezawa, Akihiro; Yamada, Gen; Ogata, Tsutomu; Fukami, Maki

2014-01-01

Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. Here, we report a male patient with a frameshift mutation in FGF8. The patient exhibited micropenis, craniofacial anomalies, and ventricular septal defect at birth. Clinical evaluation at 16 years and 8 months of age revealed delayed puberty, hyposmia, borderline mental retardation, and mild hearing difficulty. Endocrine findings included gonadotropin deficiency and primary hypothyroidism. Molecular analysis identified a de novo heterozygous p.S192fsX204 mutation in the last exon of FGF8. RT-PCR analysis of normal human tissues detected FGF8 expression in the genital skin, and whole-mount in situ hybridization analysis of mouse embryos revealed Fgf8 expression in the anlage of the penis. The results indicate that frameshift mutations in FGF8 account for a part of the etiology of hypothalamo-pituitary dysfunction. Micropenis in patients with FGF8 abnormalities appears to be caused by gonadotropin deficiency and defective outgrowth of the anlage of the penis.

The Asamblea del Año XIII in the Rio de la Plata: Eternal Laurels to End the Revolution

Directory of Open Access Journals (Sweden)

Esteban Buch

2016-09-01

Full Text Available The Asamblea del año XIII, the 1813 Constitutional Assembly in the Río de la Plata, represents at its best revolutionary velocity, with its allegro rhythm towards wider liberties and a more perfect equality, towards an independence of the nation that, without being officially declared, inspires many of its gestures, like the creation of Argentina’s national anthem. A contemporary observer fond of anachronisms might find in it a confirmation that movement is an essential element of democracy. Yet, this dynamic perception should be balanced by reminding that the Assembly’s main project is not to accelerate the revolution, but to terminate it. “Close the period of the revolution, open the epoch of peace and freedom”, says its inaugural declaration. This paper focuses on the tension between these two conceptions of historical temporality.

Developmental vitamin D deficiency causes abnormal brain development.

Science.gov (United States)

Eyles, D W; Feron, F; Cui, X; Kesby, J P; Harms, L H; Ko, P; McGrath, J J; Burne, T H J

2009-12-01

There is now clear evidence that vitamin D is involved in brain development. Our group is interested in environmental factors that shape brain development and how this may be relevant to neuropsychiatric diseases including schizophrenia. The origins of schizophrenia are considered developmental. We hypothesised that developmental vitamin D (DVD) deficiency may be the plausible neurobiological explanation for several important epidemiological correlates of schizophrenia namely: (1) the excess winter/spring birth rate, (2) increased incidence of the disease in 2nd generation Afro-Caribbean migrants and (3) increased urban birth rate. Moreover we have published two pieces of direct epidemiological support for this hypothesis in patients. In order to establish the "Biological Plausibility" of this hypothesis we have developed an animal model to study the effect of DVD deficiency on brain development. We do this by removing vitamin D from the diet of female rats prior to breeding. At birth we return all dams to a vitamin D containing diet. Using this procedure we impose a transient, gestational vitamin D deficiency, while maintaining normal calcium levels throughout. The brains of offspring from DVD-deficient dams are characterised by (1) a mild distortion in brain shape, (2) increased lateral ventricle volumes, (3) reduced differentiation and (4) diminished expression of neurotrophic factors. As adults, the alterations in ventricular volume persist and alterations in brain gene and protein expression emerge. Adult DVD-deficient rats also display behavioural sensitivity to agents that induce psychosis (the NMDA antagonist MK-801) and have impairments in attentional processing. In this review we summarise the literature addressing the function of vitamin D on neuronal and non-neuronal cells as well as in vivo results from DVD-deficient animals. Our conclusions from these data are that vitamin D is a plausible biological risk factor for neuropsychiatric disorders and that

Iodine Deficiency

Science.gov (United States)

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

Iron Deficiency and Anemia Predict Mortality in Patients with Tuberculosis123

Science.gov (United States)

Isanaka, Sheila; Mugusi, Ferdinand; Urassa, Willy; Willett, Walter C.; Bosch, Ronald J.; Villamor, Eduardo; Spiegelman, Donna; Duggan, Christopher; Fawzi, Wafaie W.

2012-01-01

Many studies have documented a high prevalence of anemia among tuberculosis (TB) patients and anemia at TB diagnosis has been associated with an increased risk of death. However, little is known about the factors contributing to the development of TB-associated anemia and their importance in TB disease progression. Data from a randomized clinical trial of micronutrient supplementation in patients with pulmonary TB in Tanzania were analyzed. Repeated measures of anemia with iron deficiency, anemia without iron deficiency, and iron deficiency without anemia were assessed as risk factors for treatment failure, TB recurrence, and mortality. The prevalence of anemia (hemoglobin iron deficiency (mean corpuscular volume , 80 fL). We found no evidence of an association between anemia (with or without iron deficiency) or iron deficiency without anemia at baseline and the risk of treatment failure at 1 mo after initiation. Anemia without iron deficiency was associated with an independent, 4-fold increased risk of TB recurrence [adjusted RR = 4.10 (95% CI = 1.88, 8.91); P Iron deficiency and anemia (with and without iron deficiency) were associated with a 2- to nearly 3-fold independent increase in the risk of death [adjusted RR for iron deficiency without anemia = 2.89 (95% CI = 1.53, 5.47); P = 0.001; anemia without iron deficiency = 2.72 (95% CI = 1.50, 4.93); P = 0.001; iron deficiency anemia = 2.13 (95% CI = 1.10, 4.11); P = 0.02]. Efforts to identify and address the conditions contributing to TB-associated anemia, including iron deficiency, could play an important role in reducing morbidity and mortality in areas heavily affected by TB. PMID:22190024

Synthesis of human pancreatic growth hormone-releasing factor and two omission analogs by segment-coupling method in aqueous solution

Energy Technology Data Exchange (ETDEWEB)

Blake, J.; Westphal, M.; Li, C.H. (Laboratory of Molecular Endocrinology, University of California, San Francisco, USA)

1984-01-01

The human growth hormone-releasing factor (GRF) peptides (GlyS/sup 15/)-GRF-(1-15) (IV), trifluoroacetyl-GRF-(20-44) (VI), trifluoroacetyl-GRF-(18-44) (VIII), and trifluoroacetyl-GRF-(16-44) (X) were synthesized by the solidphase method. Each of the peptides was reacted with citraconic anhydride and the trifluoroacetyl group was removed by reaction with 10% hydrazine in water. The citraconylated GRF-(1-15) peptide was coupled to the (20-44), (18-44) or (16-44) peptides by reaction with silver nitrate/N-hydroxysuccinimide to give GRF-(1-15)-(20-44) (XII), GRF-(1-15)-(18-44) (XIII), or GRF-(1-44), respectively. GRF-(1-44) was shown to stimulate the release of rat growth hormone from rat pituitary cells with an ED/sub 50/=8.8 x 10/sup -11/M. Peptides XII and XIII were inactive, either as agonists or as antagonists of the action of GRF-(1-44).

Vena porta thrombosis in patient with inherited factor VII deficiency

DEFF Research Database (Denmark)

Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

2010-01-01

with inherited FVII deficiency and chronic vena porta thrombosis. She presented at 32 weeks of gestation with spontaneously increased international normalized ratio, severe thrombocytopenia and very few unspecific symptoms. The extensive examination of the patient revealed cavernous transformation of the portal...

Sleep Deficiency and Deprivation Leading to Cardiovascular Disease

Directory of Open Access Journals (Sweden)

Michelle Kohansieh

2015-01-01

Full Text Available Sleep plays a vital role in an individual’s mental, emotional, and physiological well-being. Not only does sleep deficiency lead to neurological and psychological disorders, but also the literature has explored the adverse effects of sleep deficiency on the cardiovascular system. Decreased quantity and quality of sleep have been linked to cardiovascular disease (CVD risk factors, such as hypertension, obesity, diabetes, and dyslipidemia. We explore the literature correlating primary sleep deficiency and deprivation as a cause for cardiovascular disease and cite endothelial dysfunction as a common underlying mechanism.

Adult growth hormone deficiency

Directory of Open Access Journals (Sweden)

Vishal Gupta

2011-01-01

Full Text Available Adult growth hormone deficiency (AGHD is being recognized increasingly and has been thought to be associated with premature mortality. Pituitary tumors are the commonest cause for AGHD. Growth hormone deficiency (GHD has been associated with neuropsychiatric-cognitive, cardiovascular, neuromuscular, metabolic, and skeletal abnormalities. Most of these can be reversed with growth hormone therapy. The insulin tolerance test still remains the gold standard dynamic test to diagnose AGHD. Growth hormone is administered subcutaneously once a day, titrated to clinical symptoms, signs and IGF-1 (insulin like growth factor-1. It is generally well tolerated at the low-doses used in adults. Pegylated human growth hormone therapy is on the horizon, with a convenient once a week dosing.

Leptospira Immunoglobulin-Like Protein B (LigB Binds to Both the C-Terminal 23 Amino Acids of Fibrinogen αC Domain and Factor XIII: Insight into the Mechanism of LigB-Mediated Blockage of Fibrinogen α Chain Cross-Linking.

Directory of Open Access Journals (Sweden)

Ching-Lin Hsieh

2016-09-01

Full Text Available The coagulation system provides a primitive but effective defense against hemorrhage. Soluble fibrinogen (Fg monomers, composed of α, β and γ chains, are recruited to provide structural support for the formation of a hemostatic plug. Fg binds to platelets and is processed into a cross-linked fibrin polymer by the enzymatic clotting factors, thrombin and Factor XIII (FXIII. The newly formed fibrin-platelet clot can act as barrier to protect against pathogens from entering the bloodstream. Further, injuries caused by bacterial infections can be confined to the initial wound site. Many pathogenic bacteria have Fg-binding adhesins that can circumvent the coagulation pathway and allow the bacteria to sidestep containment. Fg expression is upregulated during lung infection providing an attachment surface for bacteria with the ability to produce Fg-binding adhesins. Fg binding by leptospira might play a crucial factor in Leptospira-associated pulmonary hemorrhage, the main factor contributing to lethality in severe cases of leptospirosis. The 12th domain of Leptospira immunoglobulin-like protein B (LigB12, a leptospiral adhesin, interacts with the C-terminus of FgαC (FgαCC. In this study, the binding site for LigB12 was mapped to the final 23 amino acids at the C-terminal end of FgαCC (FgαCC8. The association of FgαCC8 with LigB12 (ELISA, KD = 0.76 μM; SPR, KD = 0.96 μM was reduced by mutations of both charged residues (R608, R611 and H614 from FgαCC8; D1061 from LigB12 and hydrophobic residues (I613 from FgαCC8; F1054 and A1065 from LigB12. Additionally, LigB12 bound strongly to FXIII and also inhibited fibrin formation, suggesting that LigB can disrupt coagulation by suppressing FXIII activity. Here, the detailed binding mechanism of a leptospiral adhesin to a host hemostatic factor is characterized for the first time and should provide better insight into the pathogenesis of leptospirosis.

Leptospira Immunoglobulin-Like Protein B (LigB) Binds to Both the C-Terminal 23 Amino Acids of Fibrinogen αC Domain and Factor XIII: Insight into the Mechanism of LigB-Mediated Blockage of Fibrinogen α Chain Cross-Linking.

Science.gov (United States)

Hsieh, Ching-Lin; Chang, Eric; Tseng, Andrew; Ptak, Christopher; Wu, Li-Chen; Su, Chun-Li; McDonough, Sean P; Lin, Yi-Pin; Chang, Yung-Fu

2016-09-01

The coagulation system provides a primitive but effective defense against hemorrhage. Soluble fibrinogen (Fg) monomers, composed of α, β and γ chains, are recruited to provide structural support for the formation of a hemostatic plug. Fg binds to platelets and is processed into a cross-linked fibrin polymer by the enzymatic clotting factors, thrombin and Factor XIII (FXIII). The newly formed fibrin-platelet clot can act as barrier to protect against pathogens from entering the bloodstream. Further, injuries caused by bacterial infections can be confined to the initial wound site. Many pathogenic bacteria have Fg-binding adhesins that can circumvent the coagulation pathway and allow the bacteria to sidestep containment. Fg expression is upregulated during lung infection providing an attachment surface for bacteria with the ability to produce Fg-binding adhesins. Fg binding by leptospira might play a crucial factor in Leptospira-associated pulmonary hemorrhage, the main factor contributing to lethality in severe cases of leptospirosis. The 12th domain of Leptospira immunoglobulin-like protein B (LigB12), a leptospiral adhesin, interacts with the C-terminus of FgαC (FgαCC). In this study, the binding site for LigB12 was mapped to the final 23 amino acids at the C-terminal end of FgαCC (FgαCC8). The association of FgαCC8 with LigB12 (ELISA, KD = 0.76 μM; SPR, KD = 0.96 μM) was reduced by mutations of both charged residues (R608, R611 and H614 from FgαCC8; D1061 from LigB12) and hydrophobic residues (I613 from FgαCC8; F1054 and A1065 from LigB12). Additionally, LigB12 bound strongly to FXIII and also inhibited fibrin formation, suggesting that LigB can disrupt coagulation by suppressing FXIII activity. Here, the detailed binding mechanism of a leptospiral adhesin to a host hemostatic factor is characterized for the first time and should provide better insight into the pathogenesis of leptospirosis.

Phylogenetic analysis of F-bZIP transcription factors indicates conservation of the zinc deficiency response across land plants

DEFF Research Database (Denmark)

Castro, Pedro Humberto Araújo R F; Lilay, Grmay Hailu; Muñoz-Mérida, Antonio

2017-01-01

Basic leucine zipper (bZIP) transcription factors control important developmental and physiological processes in plants. In Arabidopsis thaliana, the three gene F-bZIP subfamily has been associated with zinc deficiency and salt stress response. Benefiting from the present abundance of plant genomic...... data, we performed an evolutionary and structural characterization of plant F-bZIPs. We observed divergence during seed plant evolution, into two groups and inferred different selective pressures for each. Group 1 contains AtbZIP19 and AtbZIP23 and appears more conserved, whereas Group 2, containing...... of AtZIP4. A survey of AtZIP4 orthologs promoters across different plant taxa revealed an enrichment of the Zinc Deficiency Response Element (ZDRE) to which both AtbZIP19/23 bind. Overall, our results indicate that while the AtbZIP24 function in the regulation of the salt stress response may...

Ensuring effective prevention of iodine-deficiency disorders

DEFF Research Database (Denmark)

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

2016-01-01

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

Vitamin D deficiency rickets: socio-demographic and clinical risk ...

African Journals Online (AJOL)

Vitamin D deficiency rickets: socio-demographic and clinical risk factors in children seen at a referral hospital in Addis Ababa. ... Intervention strategies targeting vitamin D deficiency rickets should give emphasis to children with protein energy malnutrition. Further work will be required to detine the causal links between ...

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 ...

Role of lecithin-cholesterol acyltransferase in the metabolism of oxidized phospholipids in plasma: studies with platelet-activating factor-acetyl hydrolase-deficient plasma.

Science.gov (United States)

Subramanian, V S; Goyal, J; Miwa, M; Sugatami, J; Akiyama, M; Liu, M; Subbaiah, P V

1999-07-09

To determine the relative importance of platelet-activating factor-acetylhydrolase (PAF-AH) and lecithin-cholesterol acyltransferase (LCAT) in the hydrolysis of oxidized phosphatidylcholines (OXPCs) to lyso-phosphatidylcholine (lyso-PC), we studied the formation and metabolism of OXPCs in the plasma of normal and PAF-AH-deficient subjects. Whereas the loss of PC following oxidation was similar in the deficient and normal plasmas, the formation of lyso-PC was significantly lower, and the accumulation of OXPC was higher in the deficient plasma. Isolated LDL from the PAF-AH-deficient subjects was more susceptible to oxidation, and stimulated adhesion molecule synthesis in endothelial cells, more than the normal LDL. Oxidation of 16:0-[1-14C]-18:2 PC, equilibrated with plasma PC, resulted in the accumulation of labeled short- and long-chain OXPCs, in addition to the labeled aqueous products. The formation of the aqueous products decreased by 80%, and the accumulation of short-chain OXPC increased by 110% in the deficient plasma, compared to the normal plasma, showing that PAF-AH is predominantly involved in the hydrolysis of the truncated OXPCs. Labeled sn-2-acyl group from the long-chain OXPC was not only hydrolyzed to free fatty acid, but was preferentially transferred to diacylglycerol, in both the normal and deficient plasmas. In contrast, the acyl group from unoxidized PC was transferred only to cholesterol, showing that the specificity of LCAT is altered by OXPC. It is concluded that, while PAF-AH carries out the hydrolysis of mainly truncated OXPCs, LCAT hydrolyzes and transesterifies the long-chain OXPCs.

Prevalence and factors associated with vitamin A deficiency in children and adolescents

Directory of Open Access Journals (Sweden)

Rita de Cássia Ribeiro-Silva

2014-09-01

Full Text Available Objective: To identify the prevalence and factors associated with vitamin A deficiency (VAD in children and adolescents. Methods: This was a cross-sectional study involving 546 schoolchildren, aged between 7 and 14 years, of both genders, enrolled in public elementary schools. Blood was collected for measurement of serum retinol. The retinol concentration in the samples was determined by high performance liquid chromatography (HPLC. Data were collected on anthropometrics, dietary, demographic, and socioeconomic factors. Polytomous logistic regression was used to evaluate the associations of interest. Results: Approximately 27.5% of the students had retinol values < 30 μg/dL. The multivariate analysis showed, after the appropriate adjustments, a positive and statistically significant association of moderate/severe VAD (OR = 2.19; 95% CI 1.17 to 4.10 and marginal VAD (OR = 2.34; 95% CI 1.47 to 3.73 with age < 10 years. There was also association of VAD moderate/severe (OR = 2.01; 95% CI 1.01 to 5.05 and borderline VAD (OR = 2.14; 95% CI: 1.08 to 4.21 with the anthropometric status of underweight. Lower intake of retinol was detected among those with severe VAD. Conclusion: VAD is a health concern among children and adolescents. Lower weight and younger schoolchildren had greater vulnerability to VAD.

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

Directory of Open Access Journals (Sweden)

M Noori Shadkam

2009-07-01

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

Developmental vitamin D deficiency alters MK-801-induced behaviours in adult offspring.

Science.gov (United States)

Kesby, James P; O'Loan, Jonathan C; Alexander, Suzanne; Deng, Chao; Huang, Xu-Feng; McGrath, John J; Eyles, Darryl W; Burne, Thomas H J

2012-04-01

Developmental vitamin D (DVD) deficiency is a candidate risk factor for developing schizophrenia in humans. In rodents DVD deficiency induces subtle changes in the way the brain develops. This early developmental insult leads to select behavioural changes in the adult, such as an enhanced response to amphetamine-induced locomotion in female DVD-deficient rats but not in male DVD-deficient rats and an enhanced locomotor response to the N-methyl-D: -aspartate (NMDA) receptor antagonist, MK-801, in male DVD-deficient rats. However, the response to MK-801-induced locomotion in female DVD-deficient rats is unknown. Therefore, the aim of the current study was to further examine this behavioural finding in male and female rats and assess NMDA receptor density. DVD-deficient Sprague Dawley rats were assessed for locomotion, ataxia, acoustic startle response (ASR) and prepulse inhibition (PPI) of the ASR to multiple doses of MK-801. The NMDA receptor density in relevant brain regions was assessed in a drug-naive cohort. DVD deficiency increased locomotion in response to MK-801 in both sexes. DVD-deficient rats also showed an enhanced ASR compared with control rats, but PPI was normal. Moreover, DVD deficiency decreased NMDA receptor density in the caudate putamen of both sexes. These results suggest that a transient prenatal vitamin D deficiency has a long-lasting effect on NMDA-mediated signalling in the rodent brain and may be a plausible candidate risk factor for schizophrenia and other neuropsychiatric disorders.

Analysis of human error and organizational deficiency in events considering risk significance

International Nuclear Information System (INIS)

Lee, Yong Suk; Kim, Yoonik; Kim, Say Hyung; Kim, Chansoo; Chung, Chang Hyun; Jung, Won Dea

2004-01-01

In this study, we analyzed human and organizational deficiencies in the trip events of Korean nuclear power plants. K-HPES items were used in human error analysis, and the organizational factors by Jacobs and Haber were used for organizational deficiency analysis. We proposed the use of CCDP as a risk measure to consider risk information in prioritizing K-HPES items and organizational factors. Until now, the risk significance of events has not been considered in human error and organizational deficiency analysis. Considering the risk significance of events in the process of analysis is necessary for effective enhancement of nuclear power plant safety by focusing on causes of human error and organizational deficiencies that are associated with significant risk

Tomo XIII: ética, equidad e inclusión. Reseña de la Colección Internacional de Investigación Educativa Editorial Redipe 2018

OpenAIRE

Julio César Arboleda

2018-01-01

ÉTICA, EQUIDAD E INCLUSIÓN son los temas centrales de este tomo XIII, inherentes a procesos investigativos y reflexivos. El primer trabajo, por ejemplo, reivindica la visión ética y antropológica de la educación, que sigue constituyendo un pasivo en los procesos de reflexión y formación. Le siguen producciones en torno a la inclusión y la equidad educativa y social. Los demás capítulos constituyen aportaciones de diversas áreas del conocimiento.

Iron-Deficiency Anemia

Science.gov (United States)

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

Increased glucose dependence in resting, iron-deficient rats

International Nuclear Information System (INIS)

Brooks, G.A.; Henderson, S.A.; Dallman, P.R.

1987-01-01

Rates of blood glucose and lactate turnover were assessed in resting iron-deficient and iron-sufficient (control) rats to test the hypothesis that dependence on glucose metabolism is increased in iron deficiency. Male Sprague-Dawley rats, 21 days old, were fed a diet containing either 6 mg iron/kg feed (iron-deficient group) or 50 mg iron/kg feed (iron-sufficient group) for 3-4 wk. The iron-deficient group became anemic, with hemoglobin levels of 6.4 ± 0.2 compared with 13.8 ± 0.3 g/dl for controls. Rats received a 90-min primed continuous infusion of D-[6- 3 H]glucose and sodium L-[U- 14 C]lactate via a jugular catheter. Serial samples were taken from a carotid catheter for concentration and specific activity determinations. Iron-deficient rats had significantly higher blood glucose and lactate concentrations than controls. The iron-deficient group had a significantly higher glucose turnover rate than the control group. Significantly more metabolite recycling in iron-deficient rats was indicated by greater incorporation of 14 C into blood glucose. Assuming a carbon crossover correction factor of 2, half of blood glucose arose from lactate in deficient animals. By comparison, only 25% of glucose arose from lactate in controls. Lack of a difference in lactate turnover rates between deficient rats and controls was attributed to 14 C recycling. The results indicate a greater dependence on glucose metabolism in iron-deficient rats

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 ...

Iron deficiency in blood donors

Directory of Open Access Journals (Sweden)

Rodolfo Delfini Cançado

Full Text Available CONTEXT: Blood donation results in a substantial loss of iron (200 to 250 mg at each bleeding procedure (425 to 475 ml and subsequent mobilization of iron from body stores. Recent reports have shown that body iron reserves generally are small and iron depletion is more frequent in blood donors than in non-donors. OBJECTIVE: The aim of this study was to evaluate the frequency of iron deficiency in blood donors and to establish the frequency of iron deficiency in blood donors according to sex, whether they were first-time or multi-time donors, and the frequency of donations per year. DESIGN: From September 20 to October 5, 1999, three hundred blood donors from Santa Casa Hemocenter of São Paulo were studied. DIAGNOSTIC TESTS: Using a combination of biochemical measurements of iron status: serum iron, total iron-binding capacity, transferrin saturation index, serum ferritin and the erythrocyte indices. RESULTS: The frequency of iron deficiency in blood donors was 11.0%, of whom 5.5% (13/237 were male and 31.7% (20/63 female donors. The frequency of iron deficiency was higher in multi-time blood donors than in first-time blood donors, for male blood donors (7.6% versus 0.0%, P < 0.05 and female ones (41.5% versus 18.5%, P < 0.05. The frequency of iron deficiency found was higher among the male blood donors with three or more donations per year (P < 0.05 and among the female blood donors with two or more donations per year (P < 0.05. CONCLUSIONS: We conclude that blood donation is a very important factor for iron deficiency in blood donors, particularly in multi-time donors and especially in female donors. The high frequency of blood donors with iron deficiency found in this study suggests a need for a more accurate laboratory trial, as hemoglobin or hematocrit measurement alone is not sufficient for detecting and excluding blood donors with iron deficiency without anemia.

Chronic deficiency of nitric oxide affects hypoxia inducible factor-1α (HIF-1α stability and migration in human endothelial cells.

Directory of Open Access Journals (Sweden)

Maria Grazia Cattaneo

Full Text Available BACKGROUND: Endothelial dysfunction in widely diffuse disorders, such as atherosclerosis, hypertension, diabetes and senescence, is associated with nitric oxide (NO deficiency. Here, the behavioural and molecular consequences deriving from NO deficiency in human umbilical vein endothelial cells (HUVECs were investigated. RESULTS: Endothelial nitric oxide synthase (eNOS was chronically inhibited either by N(G-Nitro-L-arginine methyl ester (L-NAME treatment or its expression was down-regulated by RNA interference. After long-term L-NAME treatment, HUVECs displayed a higher migratory capability accompanied by an increased Vascular Endothelial Growth Factor (VEGF and VEGF receptor-2 (kinase insert domain receptor, KDR expression. Moreover, both pharmacological and genetic inhibition of eNOS induced a state of pseudohypoxia, revealed by the stabilization of hypoxia-inducible factor-1α (HIF-1α. Furthermore, NO loss induced a significant decrease in mitochondrial mass and energy production accompanied by a lower O(2 consumption. Notably, very low doses of chronically administered DETA/NO reverted the HIF-1α accumulation, the increased VEGF expression and the stimulated migratory behaviour detected in NO deficient cells. CONCLUSION: Based on our results, we propose that basal release of NO may act as a negative controller of HIF-1α levels with important consequences for endothelial cell physiology. Moreover, we suggest that our experimental model where eNOS activity was impaired by pharmacological and genetic inhibition may represent a good in vitro system to study endothelial dysfunction.

Relative Tissue Factor Deficiency Attenuates Ventilator-Induced Coagulopathy but Does Not Protect against Ventilator-Induced Lung Injury in Mice

Directory of Open Access Journals (Sweden)

Esther K. Wolthuis

2012-01-01

Full Text Available Preventing tissue-factor-(TF- mediated systemic coagulopathy improves outcome in models of sepsis. Preventing TF-mediated pulmonary coagulopathy could attenuate ventilator-induced lung injury (VILI. We investigated the effect of relative TF deficiency on pulmonary coagulopathy and inflammation in a murine model of VILI. Heterozygous TF knockout (TF+/− mice and their wild-type (TF+/+ littermates were sedated (controls or sedated, tracheotomized, and mechanically ventilated with either low or high tidal volumes for 5 hours. Mechanical ventilation resulted in pulmonary coagulopathy and inflammation, with more injury after mechanical ventilation with higher tidal volumes. Compared with TF+/+ mice, TF+/− mice demonstrated significantly lower pulmonary thrombin-antithrombin complex levels in both ventilation groups. There were, however, no differences in lung wet-to-dry ratio, BALF total protein levels, neutrophil influx, and lung histopathology scores between TF+/− and TF+/+ mice. Notably, pulmonary levels of cytokines were significantly higher in TF+/− as compared to TF+/+ mice. Systemic levels of cytokines were not altered by the relative absence of TF. TF deficiency is associated with decreased pulmonary coagulation independent of the ventilation strategy. However, relative TF deficiency does not reduce VILI and actually results in higher pulmonary levels of inflammatory mediators.

Clinical implications of vitamin D deficiency

Directory of Open Access Journals (Sweden)

Beata Matyjaszek-Matuszek

2015-06-01

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

Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran.

Science.gov (United States)

Pasalar, M; Mehrabani, D; Afrasiabi, A; Mehravar, Z; Reyhani, I; Hamidi, R; Karimi, M

2014-12-17

This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and β-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged child had G6PD deficiency. A total of 9.7% of children had HbA2 ≥ 3.5 g/dL, indicating β-thalassaemia trait (10.8% in females and 7.8% in males). Mean serum iron, serum ferritin and total iron binding capacity were similar in males and females. Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. A high prevalence of β-thalassaemia trait was the major potential risk factor in this population.

Nutritional iron deficiency in women of child bearing age - what to do

International Nuclear Information System (INIS)

Ansari, T.; Ali, L.; Aziz, T.; Ara, J.; Liaquat, N.; Tahir, H.

2009-01-01

Background: Iron deficiency is the most common aetiology of anaemia worldwide and has several risk factors. Although iron deficiency anaemia (IDA) can occur at any age, women from reproductive age group are particularly vulnerable to develop IDA due to increased nutritional demand during pregnancy. Objective was to determine the frequency and nutritional risk factor of iron deficiency anaemia in women of child bearing age. This descriptive, cross sectional study was conducted from October 2005 to March 2006 at the Department of Medicine, Ward-5, and out-patients department of Jinnah Postgraduate Medical Centre, Karachi. Method: Two hundred non-pregnant females of child bearing age were included in the study; 100 with no previous pregnancy and remaining 100 with at least one prior history of pregnancy. All the relevant information, i.e., demographic and socioeconomic was collected through a questionnaire. Results: Two hundred patients with signs and symptoms of anaemia were recruited. Out of them 89 patients were found to be having iron deficiency anaemia in various age groups. Results also showed that dietary habit of patients was one of the causative factors leading to iron deficiency anaemia. Conclusion: To overcome iron deficiency anaemia a thorough and comprehensive strategy is required, i.e., educating the subjects to consume food rich in iron, community based program, monitoring severely anaemic cases and their treatment. (author)

Proceedings of VII International Symposium on Nuclear and Related Techniques. XIII Workshop on Nuclear Physics. WONP-NURT 2011

International Nuclear Information System (INIS)

2011-02-01

This year the XIII Workshop on Nuclear Physics (WONP) and the VII Symposium on Nuclear and Related Techniques (NURT) are organized jointly, by Instituto Superior de Tecnologias y Ciencias Aplicadas and Centro de Aplicaciones Tecnologicas y Desarrollo Nuclear. Both events gather scientists from several countries with top research work on nuclear physics and its applications. WONP has been carried out since 1994 promoting an ever-exchanging exchange between professionals of various nuclear and applied physics fields, those related to environmental and health care. NURT is one of the key Cuban scientific meetings since 1997 dealing with the peaceful applications of nuclear techniques in several domains of the society. WONP and NURT provide an unique opportunity for the national and international scientific community to meet outstanding researchers and discuss current trends in several areas of theoretical, experimental and applied nuclear physics and related topics. The papers submitted to this event are presented in this CD-ROM

IGF-1 deficiency causes atrophic changes associated with upregulation of VGluT1 and downregulation of MEF2 transcription factors in the mouse cochlear nuclei.

Science.gov (United States)

Fuentes-Santamaría, V; Alvarado, J C; Rodríguez-de la Rosa, L; Murillo-Cuesta, S; Contreras, J; Juiz, J M; Varela-Nieto, I

2016-03-01

Insulin-like growth factor 1 (IGF-1) is a neurotrophic protein that plays a crucial role in modulating neuronal function and synaptic plasticity in the adult brain. Mice lacking the Igf1 gene exhibit profound deafness and multiple anomalies in the inner ear and spiral ganglion. An issue that remains unknown is whether, in addition to these peripheral abnormalities, IGF-1 deficiency also results in structural changes along the central auditory pathway that may contribute to an imbalance between excitation and inhibition, which might be reflected in abnormal auditory brainstem responses (ABR). To assess such a possibility, we evaluated the morphological and physiological alterations in the cochlear nucleus complex of the adult mouse. The expression and distribution of the vesicular glutamate transporter 1 (VGluT1) and the vesicular inhibitory transporter (VGAT), which were used as specific markers for labeling excitatory and inhibitory terminals, and the involvement of the activity-dependent myocyte enhancer factor 2 (MEF2) transcription factors in regulating excitatory synapses were assessed in a 4-month-old mouse model of IGF-1 deficiency and neurosensorial deafness (Igf1 (-/-) homozygous null mice). The results demonstrate decreases in the cochlear nucleus area and cell size along with cell loss in the cochlear nuclei of the deficient mouse. Additionally, our results demonstrate that there is upregulation of VGluT1, but not VGAT, immunostaining and downregulation of MEF2 transcription factors together with increased wave II amplitude in the ABR recording. Our observations provide evidence of an abnormal neuronal cytoarchitecture in the cochlear nuclei of Igf1 (-/-) null mice and suggest that the increased efficacy of glutamatergic synapses might be mediated by MEF2 transcription factors.

A comparison between recombinant activated factor VII (Aryoseven) and Novoseven in patients with congenital factor VII deficiency.

Science.gov (United States)

Faranoush, M; Abolghasemi, Hassan; Toogeh, Gh; Karimi, M; Eshghi, P; Managhchi, M; Hoorfar, H; Dehdezi, B Keikhaei; Mehrvar, A; Khoeiny, B; Kamyar, K; Heshmat, R; Baghaeipour, M R; Mirbehbahani, N B; Fayazfar, R; Ahmadinejad, M; Naderi, M

2015-11-01

In order to establish the efficacy and biosimilar nature of AryoSeven to NovoSeven in the treatment of congenital factor VII (FVII) deficiency, patients received either agent at 30 μg/kg, intravenously per week for 4 weeks, in a randomized fashion. The primary aim was to compare FVII:coagulation activity (FVII:C), 20 minutes after recombinant activated FVII (rFVIIa) injection, in the 2 groups. A secondary measure was self-reported bleeding. The median interquartile baseline range of the plasma level of activated FVII (FVIIa) activity in the 2 groups was 1.6 (1.1-14.0) IU/dL and 5.0 (1.1-25.5) IU/dL. All patients achieved levels of FVIIa (FVII:C) >30 IU/dL, 20 minutes after the injection of rFVIIa. Bleeding was similar between the 2 groups, with a comparable decrease in severity and frequency compared to the last month prior to treatment. AryoSeven is similar to NovoSeven in increasing postinjection FVIIa activity as well as in clinical safety and efficacy. © The Author(s) 2014.

Fatores associados a anemia por deficiência de ferro em crianças pré-escolares brasileiras Factors associated with iron deficiency anemia in Brazilian preschool children

Directory of Open Access Journals (Sweden)

Carlos A. N. de Almeida

2004-06-01

Full Text Available OBJETIVO: Avaliar fatores determinantes de anemia e deficiência de ferro em crianças de duas creches da cidade de Pontal, sudeste do Brasil. MÉTODOS: Estudo transversal foi realizado avaliando-se 192 crianças com idades entre 12 e 72 meses. Dados pessoais (idade, sexo, uso de ferro medicamentoso, duração do aleitamento materno, tipo de parto, cuidados pré-natais, peso e estatura e dados socioeconômicos (número de co-habitantes, escolaridade dos pais e renda per capita familiar foram obtidos e correlacionados com hemoglobina, receptores de transferrina, ferritina e anemia ferropriva. RESULTADOS: A idade foi a variável mais afetada pelo estado nutricional de ferro, correlacionando-se com maiores valores de hemoglobina e ferritina e menores valores de receptor de transferrina, sendo que menos anemia ferropriva foi detectada quanto maior a idade. As outras variáveis estudadas não apresentaram correlação com o estado nutricional de ferro. CONCLUSÃO: Os dados sugerem que as estratégias de controle para essa população de crianças pré-escolares devem ser direcionadas especialmente para aquelas de menor idade.OBJECTIVE: To examine the determining factors of anemia and iron deficiency in children attending two day care centers in the town of Pontal, southeast of Brazil. METHODS: Cross-sectional study was conducted in 192 children aged 12 to 72 months. Personal data (age, sex, use of medicinal iron supplements, duration of breast-feeding, type of delivery, prenatal care, weight, and height, and socioeconomic data (number of co-inhabitants, parental schooling, and per capita family income were obtained and evaluated together with hemoglobin, serum transferrin receptor, ferritin, and iron deficiency anemia. RESULTS: Age was the variable that most affected iron nutritional status, with higher hemoglobin values, lower transferrin receptor concentrations, higher ferritin values and lower iron deficiency anemia being detected with increasing

Materiales y técnicas constructivas en la Murcia andalusí (siglos X-XIII

Directory of Open Access Journals (Sweden)

Navarro Palazón, Julio

2011-12-01

Full Text Available The evolution of the materials and building techniques of the andalusian city of Murcia between the 9th and 13th centuries are here studied, mainly based on the new information provided by the numerous archaeological excavations that have been carried out in the city for the last thirty years, related especially to residential architecture. After its accuracy analysis, some differences between the buildings techniques manufactured in the 10th and 11th centuries and those later attributed to 12th and 13th centuries have been identified, being thus highly important to describe them by remarking at the same time those distinguishing features. Problems related to the absolute chronology of these building techniques are also discussed, highlighting the definitive information currently known. With the main aim of analysing how general these remarks are or, on the contrary, if they depend on the regionalization phenomenon characterizing the andalusian recording material, we will compare the information obtained in Murcia with those coming from other andalusian sites, located these far away from the studied area. Finally, we will check if there are differences between the rural and urban environments by comparing the materials and building techniques recorded in two coetaneous sites in Murcia, both sited close to the same river Segura and 40 km distant from each other: the city of Murcia (a large madîna and the deserted settlement of Siyâsa (a hisn.En el presente trabajo estudiamos la evolución de los materiales y técnicas constructivas en la Murcia andalusí, durante un periodo de tiempo que se extiende entre los siglos X y XIII, para lo que nos basaremos especialmente en la rica información extraída de las numerosas excavaciones efectuadas en dicha ciudad, que se refiere sobre todo a arquitectura residencial. Tras su exhaustivo análisis hemos identificado algunas diferencias entre las fábricas de los siglos X y XI y las posteriores de los

Quid facundia posset / re patuit (Οu., Μet. XIII 382-383: the oratorical strategies of Ulysses in the Ovidian armorum iudicium

Directory of Open Access Journals (Sweden)

Eleonora Tola

2010-12-01

Full Text Available In book XIII of his Metamorphoses Ovid presents the contest for the arms of Achilles between Ajax and Ulysses. The speeches that they address to the assembly of Greek show a judicial process according to the norms of Roman rhetoric. Through his traditional facundia Ulysses persuades his public and gains victory after a confrontation that relates to a verbal fight. I will explore the construction of Ulysses’s discursive superiority focusing especially on two key-places of his speech, exordium (128-139 and peroratio (339-381. I will identify different syntactic, metrical and stylistic strategies with which Ulysses captivates his interlocutors. From a metapoetic perspective, Ovid’s tale establishes some resonances between the character’s Fama and its own textual mechanisms.

Iron-Deficiency Anemia

Medline Plus

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

Japanese contributions to IAEA INTOR workshop, phase two A, part 2, chapter XI: concept evolution, chapter XII: design concept, and chapter XIII: operation and test programme

International Nuclear Information System (INIS)

Tomabechi, Ken; Fujisawa, Noboru; Iida, Hiromasa

1985-07-01

This report corresponds to Chapters XI, XII, and XIII of Japanese contribution report to IAEA INTOR Workship, Phase Two A, Part 2. In the phase Two A, Part 2 workshop, we have studied critical technical issues and have also assessed scientific and technical data bases. Based on those results, the INTOR design have been modified to upgrade the design concept. The major modification items are related to plasma beta value, plasma operation scenario, reactor size reduction, neutron fluence, tritium producing blanket, and implementation of active control coils. In those chapters, the concept evolution for the design modification and main results are described. (author)

Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair.

Science.gov (United States)

Lurie, R; Ben-Amitai, D; Laron, Z

2004-01-01

Classical Laron syndrome is a recessive disease of primary insulin-like growth factor 1 (IGF-1) deficiency and primary growth hormone insensitivity. Affected children have, among other defects, sparse hair growth and frontal recessions. The hair is thin and easy to pluck. Young adults have various degrees of alopecia, more pronounced in males. The aim of the present study was to investigate the effect of primary IGF-1 deficiency on hair structure. The study sample included 11 patients with Laron syndrome--5 children (2 untreated) and 6 adults (5 untreated). Hairs were examined by light and electron microscopy. The most significant structured defect, pili torti et canaliculi, was found in 2 young, untreated patients. Grooving, tapered hair and trichorrhexis nodosa were found in the remainder. IGF-1-treated patients had either none or significantly fewer pathological changes compared to the untreated patients. This is the first documentation of the role of primary IGF-1 deficiency on hair structure in human beings. Copyright 2004 S. Karger AG, Basel

Hepatic deficiency of the pioneer transcription factor FoxA restricts hepatitis B virus biosynthesis by the developmental regulation of viral DNA methylation.

Directory of Open Access Journals (Sweden)

Vanessa C McFadden

2017-02-01

Full Text Available The FoxA family of pioneer transcription factors regulates hepatitis B virus (HBV transcription, and hence viral replication. Hepatocyte-specific FoxA-deficiency in the HBV transgenic mouse model of chronic infection prevents the transcription of the viral DNA genome as a result of the failure of the developmentally controlled conversion of 5-methylcytosine residues to cytosine during postnatal hepatic maturation. These observations suggest that pioneer transcription factors such as FoxA, which mark genes for expression at subsequent developmental steps in the cellular differentiation program, mediate their effects by reversing the DNA methylation status of their target genes to permit their ensuing expression when the appropriate tissue-specific transcription factor combinations arise during development. Furthermore, as the FoxA-deficient HBV transgenic mice are viable, the specific developmental timing, abundance and isoform type of pioneer factor expression must permit all essential liver gene expression to occur at a level sufficient to support adequate liver function. This implies that pioneer transcription factors can recognize and mark their target genes in distinct developmental manners dependent upon, at least in part, the concentration and affinity of FoxA for its binding sites within enhancer and promoter regulatory sequence elements. This selective marking of cellular genes for expression by the FoxA pioneer factor compared to HBV may offer the opportunity for the specific silencing of HBV gene expression and hence the resolution of chronic HBV infections which are responsible for approximately one million deaths worldwide annually due to liver cirrhosis and hepatocellular carcinoma.

Decay-accelerating factor 1 deficiency exacerbates Trypanosoma cruzi-induced murine chronic myositis.

Science.gov (United States)

Solana, María E; Ferrer, María F; Novoa, María Mercedes; Song, Wen-Chao; Gómez, Ricardo M

2012-10-01

Murine infection with Trypanosoma cruzi (Tc) has been used to study the role of T-cells in the pathogenesis of human inflammatory idiopathic myositis. Absence of decay-accelerating factor 1 (Daf1) has been shown to enhance murine T-cell responses and autoimmunity. To determine whether Daf1 deficiency can exacerbate Tc-induced myositis, C57BL/6 DAF(+/+) and DAF(-/-) mice were inoculated with 5 × 10(4) trypomastigotes, and their morbidity, parasitemia, parasite burden, histopathology, and T-cell expansion were studied in the acute and chronic stages. DAF(-/-) mice had lower parasitemia and parasite burden but higher morbidity, muscle histopathology, and increased number of CD44(+) (activated/memory phenotype) splenic CD4(+) and CD8(+) T-cells. An enhanced CD8(+) T-cell immune-specific response may explain the lower parasitemia and parasite burden levels and the increase in histopathological lesions. We propose that Tc-inoculated DAF(-/-) mice are a useful model to study T-cell mediated immunity in skeletal muscle tissues. Copyright © 2012 Wiley Periodicals, Inc.

Iron deficiency anaemia in Sri Lanka

International Nuclear Information System (INIS)

Liyanage, K.D.C.E.

1992-01-01

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

Report: Ordine del sentire e apertura al mondo. Filosofia delle emozioni e processo di individuazione della persona XIII Convegno internazionale della Max-Scheler-Gesellschaft Università di Verona 27-30 Maggio 2015

OpenAIRE

Maria Teresa Speranza

2015-01-01

An interesting debate on the issue of personal identity and its ethical implications has animated the days of the XIII International Congress of Max Scheler‐Gesellschaft. A large program of work has garnered numerous perspectives on the philosophy of person and the phenomenology of otherness, investigating in particular the role of emotions in the formation of person process. The main topic of conference was the Max Scheler’s phenomenology of emotions, which is an i...

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

NARCIS (Netherlands)

Beutler, E.; Geet, C. Van; Loo, D.M.W.M. te; Gelbart, T.; Crain, K.; Truksa, J.; Lee, P.L.

2010-01-01

Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies

Increased serum and bone matrix levels of transforming growth factor {beta}1 in patients with GH deficiency in response to GH treatment

DEFF Research Database (Denmark)

Ueland, Thor; Lekva, Tove; Otterdal, Kari

2011-01-01

Patients with adult onset GH deficiency (aoGHD) have secondary osteoporosis, which is reversed by long-term GH substitution. Transforming growth factor β1 (TGFβ1 or TGFB1) is abundant in bone tissue and could mediate some effects of GH/IGFs on bone. We investigated its regulation by GH/IGF1 in vivo...

Rickets and vitamin D deficiency in Alaska native children.

Science.gov (United States)

Singleton, Rosalyn; Lescher, Rachel; Gessner, Bradford D; Benson, Matthew; Bulkow, Lisa; Rosenfeld, John; Thomas, Timothy; Holman, Robert C; Haberling, Dana; Bruce, Michael; Bartholomew, Michael; Tiesinga, James

2015-07-01

Rickets and vitamin D deficiency appeared to increase in Alaskan children starting in the 1990s. We evaluated the epidemiology of rickets and vitamin D deficiency in Alaska native (AN) children in 2001-2010. We analyzed 2001-2010 visits with rickets or vitamin D deficiency diagnosis for AN and American Indian children and the general US population aged rickets/vitamin D deficient cases and age- and region-matched controls. In AN children, annual rickets-associated hospitalization rate (2.23/100,000 children/year) was higher than the general US rate (1.23; 95% CI 1.08-1.39). Rickets incidence increased with latitude. Rickets/vitamin D deficiency cases were more likely to have malnutrition (OR 38.1; 95% CI 4.9-294), had similar breast-feeding prevalence, and were less likely to have received vitamin D supplementation (OR 0.23; 95% CI 0.1-0.87) than controls. Our findings highlight the importance of latitude, malnutrition, and lack of vitamin D supplementation as risk factors for rickets.

Periconceptional Folate Deficiency and Implications in Neural Tube Defects

Directory of Open Access Journals (Sweden)

J. Safi

2012-01-01

Full Text Available Nutritional deficiencies are preventable etiological and epigenetic factors causing congenital abnormalities, first cause of infant mortality. Folate deficiency has a well-established teratogenic effect, leading to an increasing risk of neural tube defects. This paper highlights the most recent medical literature about folate deficiency, be it maternal or paternal. It then focuses on associated deficiencies as nutritional deficiencies are multiple and interrelated. Observational and interventional studies have all been consistent with a 50–70% protective effect of adequate women consumption of folates on neural tube defects. Since strategies to modify women’s dietary habits and vitamin use have achieved little progress, scientific as well as political effort is mandatory in order to implement global preventive public health strategies aimed at improving the alimentation of women in reproductive age, especially folic acid supplementation. Even with the recent breakthrough of fetal surgery for myelomeningocele, the emphasis should still be on prevention as the best practice rather than treatment of neural tube defects.

Predictors of Vitamin D Deficiency in Predialysis Patients with Stage ...

African Journals Online (AJOL)

Objective: Vitamin D status and risk factors of Vitamin D deficiency in chronic kidney disease (CKD) patients in China have been seldom reported before. In this study, we aim to investigate serum 25‑hydroxyvitamin D [25(OH)D] status and find the predictors of Vitamin D deficiency in predialysis patients with Stage 3–5 CKDs ...

Differential regulation of hepatic transcription factors in the Wistar rat offspring born to dams fed folic acid, vitamin B12 deficient diets and supplemented with omega-3 fatty acids.

Directory of Open Access Journals (Sweden)

Akshaya Meher

Full Text Available Nutritional status of the mother is known to influence various metabolic adaptations required for optimal fetal development. These may be mediated by transcription factors like peroxisome proliferator activated receptors (PPARs, which are activated by long chain polyunsaturated fatty acids. The objective of the current study was to examine the expression of different hepatic transcription factors and the levels of global methylation in the liver of the offspring born to dams fed micronutrient deficient (folic acid and vitamin B12 diets and supplemented with omega-3 fatty acids. Female rats were divided into five groups (n = 8/group as follows; control, folic acid deficient (FD, vitamin B12 deficient (BD and omega-3 fatty acid supplemented groups (FDO and BDO. Diets were given starting from pre-conception and continued throughout pregnancy and lactation. Pups were dissected at the end of lactation. Liver tissues were removed; snap frozen and stored at -80°C. Maternal micronutrients deficiency resulted in lower (p<0.05 levels of pup liver docosahexaenoic acid (DHA and arachidonic acid (ARA as compared to the control group. Pup liver PPARα and PPARγ expression was lower (p<0.05 in the BD group although there were no differences in the expression of SREBP-1c, LXRα and RXRα expression. Omega-3 fatty acids supplementation to this group normalized (p<0.05 levels of both PPARα and PPARγ but reduced (p<0.05 SREBP-1c, LXRα and RXRα expression. There was no change in any of the transcription factors in the pup liver in the FD group. Omega-3 fatty acids supplementation to this group reduced (p<0.05 PPARα, SREBP-1c and RXRα expression. Pup liver global methylation levels were higher (p<0.01 in both the micronutrients deficient groups and could be normalized (p<0.05 by omega-3 fatty acid supplementation. Our novel findings suggest a role for omega-3 fatty acids in the one carbon cycle in influencing the hepatic expression of transcription factors

Epidemiology of SHOX deficiency.

Science.gov (United States)

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

ECONOMICAL BASIS TO ADDRESS MICRONUTRIENT DEFICIENCIES IN DEVELOPING WORLD

Directory of Open Access Journals (Sweden)

Amirul Hassan

2015-01-01

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

Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).

Science.gov (United States)

McCullagh, Brian N; Comellas, Alejandro P; Ballas, Zuhair K; Newell, John D; Zimmerman, M Bridget; Azar, Antoine E

2017-01-01

Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many interventions to reduce COPD exacerbations, there is a significant lack of knowledge in regards to their mechanisms and predisposing factors. We describe here an important observation that defines antibody deficiency as a potential risk factor for frequent COPD exacerbations. We report a case series of patients who have frequent COPD exacerbations, and who were found to have an underlying primary antibody deficiency syndrome. We also report on the outcome of COPD exacerbations following treatment in a subset with of these patients with antibody deficiency. We identified patients with COPD who had 2 or more moderate to severe exacerbations per year; immune evaluation including serum immunoglobulin levels and pneumococcal IgG titers was performed. Patients diagnosed with an antibody deficiency syndrome were treated with either immunoglobulin replacement therapy or prophylactic antibiotics, and their COPD exacerbations were monitored over time. A total of 42 patients were identified who had 2 or more moderate to severe COPD exacerbations per year. Twenty-nine patients had an underlying antibody deficiency syndrome: common variable immunodeficiency (8), specific antibody deficiency (20), and selective IgA deficiency (1). Twenty-two patients had a follow-up for at least 1 year after treatment of their antibody deficiency, which resulted in a significant reduction of COPD exacerbations, courses of oral corticosteroid use and cumulative annual dose of oral corticosteroid use, rescue antibiotic use, and hospitalizations for COPD exacerbations. This case series identifies antibody deficiency as a

Isotope hydrology investigations in Latin America 1994. Investigations on hydrology and hydrogeology in Latin America on water resources and groundwater pollution. Results achieved during the implementation of the project RLA/8/014 - ARCAL XIII: Application of isotope techniques in hydrology; Estudios de hidrologia isotopica en America Latina 1994. Estudios hidrologicos e hidrogeologicos en America Latina sobre los recursos hidricos y la contaminacion de las aguas subterraneas. Resultados obtenidos en el marco del proyecto RLA/8/014 - ARCAL XIII: Aplicacion de tecnicas isotopicas en hidrologia

Energy Technology Data Exchange (ETDEWEB)

NONE

1995-10-01

This IAEA Technical Document contains 17 articles about the results achieved during the implementation of the project RLA/8/014, ARCAL XIII, aimed at the application of isotope techniques in hydrology in the Caribbean and Latin America. Also included is the list of 19 participants in the project. Refs, figs and tabs.

Evaluation of dose response effects related to nutritional diseases (mineral deficiencies) in ruminants

International Nuclear Information System (INIS)

Goksoy, K.; Gucus, A.I.; Morcol, T.

1986-01-01

Nutritional diseases (mineral deficiencies) of farm animals are one of the limiting factors in animal production in Turkey. Present knowledge of mineral deficiencies of farm animals is derived from the study of severe deficiency conditions. Examples in sheep are deficiencies of copper in the central area of the Black Sea region and of selenium in the interior of Anatolia. Phosphorus deficiency is becoming the most serious problem in cattle. Outbreaks of wool shedding in sheep in central Anatolia are also becoming more severe. It is also likely that moderate (borderline) mineral deficiencies exist on a large scale. A general overview of trace mineral deficiencies and recent studies carried out to diagnose and correct them with the aid of biochemical and radioisotopic parameters is presented and discussed. (author)

Micronutrient Deficiencies and Related Factors in School-Aged Children in Ethiopia: A Cross-Sectional Study in Libo Kemkem and Fogera Districts, Amhara Regional State

Science.gov (United States)

Herrador, Zaida; Sordo, Luis; Gadisa, Endalamaw; Buño, Antonio; Gómez-Rioja, Rubén; Iturzaeta, Jose Manuel; de Armas, Lisset Fernandez; Benito, Agustín; Aseffa, Abraham; Moreno, Javier; Cañavate, Carmen; Custodio, Estefania

2014-01-01

Introduction The present study describes the distribution of selected micronutrients and anaemia among school-aged children living in Libo Kemkem and Fogera (Amhara State, Ethiopia), assessing differences by socio-demographic characteristics, health status and dietary habits. Methods A cross-sectional survey was carried out during May–December 2009. Socio-demographic characteristics, health status and dietary habits were collected. Biomarkers were determined for 764 children. Bivariate and multivariable statistical methods were employed to assess micronutrient deficiencies (MD), anaemia, and their association with different factors. Results More than two thirds of the school-aged children (79.5%) had at least one MD and 40.5% had two or more coexisting micronutrient deficiencies. The most prevalent deficiencies were of zinc (12.5%), folate (13.9%), vit A (29.3%) and vit D (49%). Anaemia occurred in 30.9% of the children. Children living in rural areas were more likely to have vit D insufficiency [OR: 5.9 (3.7–9.5)] but less likely to have folate deficiency [OR: 0.2 (0.1–0.4)] and anaemia [OR: 0.58 (0.35–0.97)]. Splenomegaly was positively associated with folate deficiency and anaemia [OR: 2.77 (1.19–6.48) and 4.91 (2.47–9.75)]. Meat and fish consumption were inversely correlated with zinc and ferritin deficiencies [OR: 0.2 (0.1–0.8) and 0.2 (0.1–0.9)], while oil consumption showed a negative association with anaemia and deficiencies of folate and vitamin A [0.58 (0.3–0.9), OR: 0.5 (0.3–0.9) and 0.6 (0.4–0.9)]. Serum ferritin levels were inversely correlated to the presence of anaemia (p<0.005). Conclusion There is a high prevalence of vitamin A deficiency and vitamin D insufficiency and a moderate prevalence of zinc and folate deficiencies in school-aged children in this area. The inverse association of anaemia and serum ferritin levels may be due to the presence of infectious diseases in the area. To effectively tackle malnutrition

Deficiency of insulin-like growth factor 1 reduces vulnerability to chronic alcohol intake-induced cardiomyocyte mechanical dysfunction: role of AMPK.

Science.gov (United States)

Ge, Wei; Li, Qun; Turdi, Subat; Wang, Xiao-Ming; Ren, Jun

2011-08-01

Circulating insulin-like growth factor I (IGF-1) levels are closely associated with cardiac performance although the role of IGF-1 in alcoholic cardiac dysfunction is unknown. This study was designed to evaluate the impact of severe liver IGF-1 deficiency (LID) on chronic alcohol-induced cardiomyocyte contractile and intracellular Ca(2+) dysfunction. Adult male C57 and LID mice were placed on a 4% alcohol diet for 15 weeks. Cardiomyocyte contractile and intracellular Ca(2+) properties were evaluated including peak shortening (PS), maximal velocity of shortening/relengthening (±dL/dt), time-to-relengthening (TR(90) ), change in fura-fluorescence intensity (ΔFFI) and intracellular Ca(2+) decay. Levels of apoptotic regulators caspase-3, Bcl-2 and c-Jun NH2-terminal kinase (JNK), the ethanol metabolizing enzyme mitochondrial aldehyde dehydrogenase (ALDH2), as well as the cellular fuel gauge AMP-activated protein kinase (AMPK) were evaluated. Chronic alcohol intake enlarged myocyte cross-sectional area, reduced PS, ± dL/dt and ΔFFI as well as prolonged TR(90) and intracellular Ca(2+) decay, the effect of which was greatly attenuated by IGF-1 deficiency. The beneficial effect of LID against alcoholic cardiac mechanical defect was ablated by IGF-1 replenishment. Alcohol intake increased caspase-3 activity/expression although it down-regulated Bcl-2, ALDH2 and pAMPK without affecting JNK and AMPK. IGF-1 deficiency attenuated alcoholism-induced responses in all these proteins with the exception of Bcl-2. In addition, the AMPK agonist 5-aminoimidazole-4-carboxamide-1-β-D-ribofuranoside abrogated short-term ethanol incubation-elicited cardiac mechanical dysfunction. Taken together, these data suggested that IGF-1 deficiency may reduce the sensitivity to ethanol-induced myocardial mechanical dysfunction. Our data further depicted a likely role of Caspase-3, ALDH2 and AMPK activation in IGF-1 deficiency induced 'desensitization' of alcoholic cardiomyopathy. © 2011 The

Comparison of vitamin D deficiency in Saudi married couples.

Science.gov (United States)

Elshafie, D E; Al-Khashan, H I; Mishriky, A M

2012-06-01

Vitamin D deficiency is highly prevalent in Saudi Arabia. The study objective was to compare vitamin D deficiency in Saudi married couples. This cross-sectional study was carried out in the Royal Guard primary health care center in Riyadh, Saudi Arabia on a consecutive sample of 50 Saudi married couples attending the center without complaints related to vitamin D deficiency. Data were collected through an interview questionnaire addressing the risk factors and dietary habits. Quantitative determination of total 25-hydroxy vitamin D in blood was done by Electro-Chemical Luminescence assay. Fieldwork was carried out from December 2010 to January 2011. Men had higher sun exposure (P = 0.001), more use of light clothes at home (P = 0.002) and more intake of milk (P = 0.023) and soft drinks (P = 0.001). Vitamin D was higher in men with mean difference about 9 nmol/l (P activity and the intake of milk as statistically significant positive independent predictors of vitamin D level, adjusted for factors as age, sun exposure, clothing, skin color, BMI, soft drinks and animal protein intake. Vitamin D deficiency is very high among Saudi married couples, especially wives. Female gender is an independent predictor of lower vitamin D level, in addition to sedentary lifestyle and low milk consumption. There is a need to revise the levels set for the diagnosis of vitamin D deficiency or insufficiency in the study region.

Isotope hydrology investigations in Latin America 1994. Investigations on hydrology and hydrogeology in Latin America on water resources and groundwater pollution. Results achieved during the implementation of the project RLA/8/014 - ARCAL XIII: Application of isotope techniques in hydrology

International Nuclear Information System (INIS)

1995-10-01

This IAEA Technical Document contains 17 articles about the results achieved during the implementation of the project RLA/8/014, ARCAL XIII, aimed at the application of isotope techniques in hydrology in the Caribbean and Latin America. Also included is the list of 19 participants in the project. Refs, figs and tabs

Las capillas y capellanías reales castellano-leonesas en la Baja Edad Media (siglos XIII-XV: algunas precisiones institucionales

Directory of Open Access Journals (Sweden)

Nogales Rincón, David

2005-12-01

Full Text Available The study of royal chapels and royal chaplaincies is focus on the analysis of the relationships between de Palace Chapel and the cathedral/monastic royal chapels from a institucional, ideologic and functional criterions, on making a systematization of them and on presenting some general notes about their characteristics, ideal patterns and development in the late Middle Ages in Castille (13th-15th centuries.

El estudio de las capillas y capellanías reales se centra en el análisis de las relaciones entre la Capilla Palacio y las capillas reales catedralicias/monásticas desde un punto de vista institucional, ideológico y funcional, en llevar a cabo una sistematización de éstas y ofrecer algunas notas generales sobre sus características, modelos ideales y evolución en la Castilla bajomedieval (siglos XIII-XV.

Effects of methionine deficiencies on plasma levels of thyroid hormones, insulin-like growth factors-I and -II, liver and body weights, and feed intake in growing chickens.

Science.gov (United States)

Carew, L B; McMurtry, J P; Alster, F A

2003-12-01

We showed previously that Met deficiency at 0.25% of the diet causes elevations in plasma triiodothyronine (T3) in broilers. In the present study, plasma levels of thyroid hormones as well as insulin-like growth factors (IGF)-I and -II were measured in chicks fed 3 deficient levels of total Met. Control (0.5%) and Met-deficient diets (0.4, 0.3, and 0.2%) were fed to male broilers from 8 to 22 d of age. Additional groups of control chicks were pair-fed with the Met-deficient ones. Chicks receiving 0.4% Met increased feed intake by 10% with no significant change in body weight. The more severe Met deficiencies of 0.3 and 0.2% caused graded reductions in feed intake and weight gain. However, corresponding pair-fed control chicks were significantly heavier. These changes suggest more marked alterations in metabolic processes with 0.3 and 0.2% Met than with 0.4% Met. Liver weights were heavier in chicks fed 0.3 and 0.2% Met but not 0.4%. Plasma T3 was higher in all deficient chicks compared with the free-fed control, which was significant only with 0.3% Met. However, with 0.3 and 0.2% Met, plasma T3 was significantly elevated compared to pair-fed controls. Plasma thyroxine (T4) was lower in all deficient groups, which was significant only with 0.2% Met, whereas no significant differences occurred between deficient chicks and their pair-fed controls. Plasma IGF-I levels were not significantly different, but they were consistently lower in deficient chicks and deserve further study. Plasma IGF-II was significantly less in chicks fed 0.2% Met compared to pair-fed controls suggesting that Met deficiency interferes with IGF-II metabolism. We concluded that a deficit of dietary Met altered plasma T3 and IGF-II levels, but the effect was dependent on the degree of deficiency.

Ciudades y poder político en al-Andalus. Una hipótesis sobre el origen de las revueltas urbanas en Murcia en el siglo XIII

Directory of Open Access Journals (Sweden)

Frey Sánchez, Antonio Vicente

2014-12-01

Full Text Available Throughout the 13th century a succession of urban revolts took place in al-Andalus, which caused the withdrawal of the Almohad Empire and the establishment of the third taifas, initially led by Muhammad b. Yūsuf b. Hūd al-Mutawakkil. The inability of this emir to hold together this newly-built state, and the continuous insurrections inside and utside of Murcia have led historians to investigate the nature of political power during this period. This article examines each one of these proposals and, on the basis of an analysis of some socio-economic aspects relating to Murcia (being a representative city of al-Andalus and capital of the hūdí movement during the first half of the thirteenth century, proposes a hypothesis on the nature of its power.Durante el siglo XIII se produjo una serie de revueltas urbanas en al-Andalus que ocasionó la retirada del Imperio almohade y la formación de las terceras taifas, inicialmente encabezadas por Muḥammad b. Yūsuf b. Hūd al-Mutawakkil. La incapacidad de este emir para mantener unido el estado que había creado y las continuas insurrecciones fuera y dentro de Murcia ha llevado a historiadores y filólogos a indagar sobre la naturaleza del poder político en este periodo. Este artículo estudia cada una de estas interpretaciones y, a partir del análisis de algunos aspectos socio-económicos de Murcia, ciudad representativa en al-Andalus y capital del movimiento hūdí durante la primera mitad del siglo XIII, presenta una propuesta sobre la naturaleza de su poder.

C-reactive protein is differentially modulated by co-existing infections, vitamin deficiencies and maternal factors in pregnant and lactating indigenous Panamanian women.

Science.gov (United States)

González-Fernández, Doris; Pons, Emérita Del Carmen; Rueda, Delfina; Sinisterra, Odalis Teresa; Murillo, Enrique; Scott, Marilyn E; Koski, Kristine G

2017-06-02

The usefulness of C-reactive protein (CRP) as a non-specific marker of inflammation during pregnancy and lactation is unclear in impoverished populations where co-existing infections and vitamin deficiencies are common. This cross-sectional study in Panama recruited 120 pregnant and 99 lactating Ngäbe-Buglé women from 14 communities in rural Panama. Obstetric history, indoor wood smoke exposure, fieldwork, BMI, vitamins A, B 12 , D, and folic acid, and inflammation markers (CRP, neutrophil/lymphocyte ratio (NLR), plateletcrit and cytokines) were measured. Multiple regressions explored both associations of CRP with other inflammatory markers and associations of CRP and elevated CRP based on trimester-specific cut-offs with maternal factors, infections and vitamin deficiencies. CRP was higher in pregnancy (51.4 ± 4.7 nmol/L) than lactation (27.8 ± 3.5 nmol/L) and was elevated above trimester specific cut-offs in 21% of pregnant and 30% of lactating women. Vitamin deficiencies were common (vitamin A 29.6%; vitamin D 68.5%; vitamin B 12 68%; folic acid 25.5%) and over 50% of women had two or more concurrent deficiencies as well as multiple infections. Multiple regression models highlighted differences in variables associated with CRP between pregnancy and lactation. In pregnancy, CRP was positively associated with greater indoor wood smoke exposure, caries and hookworm and negatively associated with Ascaris and vaginal Lactobacillus and Bacteroides/Gardnerella scores. Consistent with this, greater wood smoke exposure, caries as well as higher diplococcal infection score increased the odds of trimester-elevated CRP concentrations whereas longer gestational age lowered the likelihood of a trimester-elevated CRP. During lactation, folic acid deficiency was associated with higher CRP whereas parity, number of eosinophils and Mobiluncus score were associated with lower CRP. Also, a higher BMI and Trichomonas vaginalis score increased the likelihood of an

Iron Deficiency Anemia: A Common and Curable Disease

Science.gov (United States)

Miller, Jeffery L.

2013-01-01

Iron deficiency anemia arises when the balance of iron intake, iron stores, and the body's loss of iron are insufficient to fully support production of erythrocytes. Iron deficiency anemia rarely causes death, but the impact on human health is significant. In the developed world, this disease is easily identified and treated, but frequently overlooked by physicians. In contrast, it is a health problem that affects major portions of the population in underdeveloped countries. Overall, the prevention and successful treatment for iron deficiency anemia remains woefully insufficient worldwide, especially among underprivileged women and children. Here, clinical and laboratory features of the disease are discussed, and then focus is placed on relevant economic, environmental, infectious, and genetic factors that converge among global populations. PMID:23613366

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Directory of Open Access Journals (Sweden)

René G. Feichtinger

2017-01-01

Full Text Available Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3 or iron-sulphur cluster loading (BCS1L and LYRM7 cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios. She presented with respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, and died at day 33. She had profound lactic acidosis and elevated urinary pyruvate. Exome sequencing revealed two homozygous missense variants in UQCC2, leading to a severe reduction of UQCC2 protein. Deficiency of complexes I and III was found enzymatically and on the protein level. A review of the literature on genetically distinct complex III defects revealed that, except TTC19 deficiency, the biochemical pattern was very often a combined respiratory chain deficiency. Besides complex III, typically, complex I was decreased, in some cases complex IV. In accordance with previous observations, the presence of assembled complex III is required for the stability or assembly of complexes I and IV, which might be related to respirasome/supercomplex formation.

Clinical correlates of vitamin D deficiency in established psychosis.

Science.gov (United States)

Lally, J; Gardner-Sood, P; Firdosi, M; Iyegbe, C; Stubbs, B; Greenwood, K; Murray, R; Smith, S; Howes, O; Gaughran, F

2016-03-22

Suboptimal vitamin D levels have been identified in populations with psychotic disorders. We sought to explore the relationship between vitamin D deficiency, clinical characteristics and cardiovascular disease risk factors among people with established psychosis. Vitamin D levels were measured in 324 community dwelling individuals in England with established psychotic disorders, along with measures of mental health, cardiovascular risk and lifestyle choices. Vitamin D deficiency was defined as serum 25-hydroxyvitamin D (25-OHD) levels below 10 ng/ml (equivalent to Vitamin D as above 30 ng/ml (>50 nmol/L). The mean 25-OHD serum level was 12.4 (SD 7.3) ng/ml, (range 4.0-51.7 ng/ml). Forty nine percent (n = 158) were vitamin D deficient, with only 14 % (n = 45) meeting criteria for sufficiency. Accounting for age, gender, ethnicity and season of sampling, serum 25-OHD levels were negatively correlated with waist circumference (r = -0.220, p vitamin D deficiency. Lower vitamin D levels are associated with increased cardiovascular disease risk factors and in particular metabolic syndrome. Further research is needed to define appropriate protocols for vitamin D testing and supplementation in practice to see if this can improve cardiovascular disease risk. ISRCTN number is ISRCTN58667926 Date of registration: 23/04/2010.

Deficiency of Self-Efficacy in Problem-Solving as a Contributory Factor in Family Instability: A Qualitative Study.

Science.gov (United States)

Pourmovahed, Zahra; Mazloomy Mahmoodabad, Seyed Saied; Zareei Mahmoodabadi, Hassan; Tavangar, Hossein; Yassini Ardekani, Seyed Mojtaba; Vaezi, Ali Akbar

2018-01-01

Objective: Problem-solving ability is one of the most important means of family stability that enables the families to understand their roles, functions, and performances. Self-efficacy deficiency in problem-solving runs through many families. This qualitative study was conducted to investigate and describe how couples solve problems in their families. Method: This study was conducted to detect couples' self-efficacy deficiency in problem-solving using purposive sampling method. Several deep semi-structured interviews based on McMaster model and observations were conducted by nine family therapists and psychiatrists on four couples (eight persons) living in Yazd (Iran).The interviews were performed, audio-recorded, and transcribed verbatim. The analysis was interpreted through directed content analysis methods. Results: Families in Yazd (Iran) made some attempts to solve their problems, but their efforts were not enough, and thus they suffered from self-efficacy deficiency, which included 8 categories. The main theme distilled from the data of 17 participants was self-efficacy deficiency, which included the following categories: avoidance, insolvency, interference from others, ineffective self-treatment, behavioral problems, stubbornness, superficiality, and denial. Conclusion: It is of paramount importance to identify self-efficacy deficiency in families and promote problem- solving programs to increase family stability. In the present study, the main deficiencies in problem-solving were detected.

Deficient leukemia inhibitory factor signaling in muscle precursor cells from patients with type 2 diabetes

DEFF Research Database (Denmark)

Broholm, Christa; Brandt, Claus; Schultz, Ninna S

2012-01-01

The cytokine leukemia-inhibitory factor (LIF) is expressed by skeletal muscle and induces proliferation of muscle precursor cells, an important feature of skeletal muscle maintenance and repair. We hypothesized that muscle precursor cells from patients with type 2 diabetes had a deficient response...... nor proliferation rate was affected. In conclusion, although LIF and LIFR proteins were increased in muscle tissue and myoblasts from diabetic patients, LIF signaling and LIF-stimulated cell proliferation were impaired in diabetic myoblasts, suggesting a novel mechanism by which muscle function......RNA knockdown of suppressor of cytokine signaling (SOCS)3 in myoblast cultures established from healthy individuals and patients with type 2 diabetes. Myoblast proliferation rate was assessed by bromodeoxyuridine incorporation. LIF and LIFR proteins were increased in both muscle tissue and cultured myoblasts...

The phenomenon of micronutrient deficiency among children in China: a systematic review of the literature.

Science.gov (United States)

Wong, Angel Y S; Chan, Esther W; Chui, Celine S L; Sutcliffe, Alastair G; Wong, Ian C K

2014-11-01

The present study aimed to review the literature on micronutrient deficiency and other factors influencing a deficiency status among children living in China. A systematic review was performed to analyse the literature. Studies were identified through a search of PubMed and secondary references. Children living in China aged less than 18 years. Sixty-one articles were included. The prevalence of vitamin A deficiency decreased to approximately 10 % in 1995-2009. It increased with age but no significant difference was found between genders. The prevalence of thiamin and vitamin B12 deficiency was 10·5 % in Yunnan and 4·5 % in Chongqing provinces, respectively. Higher vitamin D deficiency rates were seen in spring and winter. The incidence of bleeding due to vitamin K deficiency was 3·3 % in 1998-2001 and more prevalent in rural areas. Both iodine deficiency and excess iodine intake were observed. Goitre rates were reported in Tibet, Jiangxi, Gansu and Hong Kong (3·5-46 %). Anaemia rates ranged from 20 % to 40 % in 2007-2011. High Se deficiency rates were found in Tibet, Shaanxi and Jiangsu. High Zn deficiency rates were also found (50-70 %) in 1995-2006. Few studies reported Ca deficiency rates (19·6-34·3 %). The degrees of deficiency for vitamin A, vitamin B12, Fe and Zn were more substantial in rural areas compared with urban areas. The prevalence of micronutrient deficiency rates varied. Socio-economic status, environmental factors and the Chinese diet may influence micronutrient deficiency. Public health policies should consider implementing programmes of supplementation, food fortification and nutrition education to address these deficiencies among Chinese children.

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 ...

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Science.gov (United States)

Colvin, Stephanie C.; Malik, Raleigh E.; Showalter, Aaron D.; Sloop, Kyle W.; Rhodes, Simon J.

2011-01-01

The etiology of most pediatric hormone deficiency diseases is poorly understood. Children with combined pituitary hormone deficiency (CPHD) have insufficient levels of multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and often have associated nervous system symptoms. Mutations in developmental regulatory genes required for the specification of the hormone-secreting cell types of the pituitary gland underlie severe forms of CPHD. To better understand these diseases, we have created a unique mouse model of CPHD with a targeted knockin mutation (Lhx3 W227ter), which is a model for the human LHX3 W224ter disease. The LHX3 gene encodes a LIM-homeodomain transcription factor, which has essential roles in pituitary and nervous system development in mammals. The introduced premature termination codon results in deletion of the carboxyl terminal region of the LHX3 protein, which is critical for pituitary gene activation. Mice that lack all LHX3 function do not survive beyond birth. By contrast, the homozygous Lhx3 W227ter mice survive, but display marked dwarfism, thyroid disease, and female infertility. Importantly, the Lhx3 W227ter mice have no apparent nervous system deficits. The Lhx3 W227ter mouse model provides a unique array of hormone deficits and facilitates experimental approaches that are not feasible with human patients. These experiments demonstrate that the carboxyl terminus of the LHX3 transcription factor is not required for viability. More broadly, this study reveals that the in vivo actions of a transcription factor in different tissues are molecularly separable. PMID:21149718

Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in hereditary plasma thromboplastin antecedent deficiency: a study of 125 patients of several ethnic backgrounds.

Science.gov (United States)

Saito, H; Ratnoff, O D; Bouma, B N; Seligsohn, U

1985-12-01

Plasma samples of 125 patients from 80 kindreds with hereditary plasma thromboplastin antecedent (PTA, factor XI) deficiency were tested by factor XI radioimmunoassay (RIA) and electroimmunoassay (EIA) in an attempt to detect variant molecules. Ninety-six patients (70 kindreds) were Jewish, and 29 (10 kindreds) were of other ethnic backgrounds, namely, Japanese, black American, Korean, Arab, Indian, and English. Seventy-eight patients were homozygotes, and 47 were heterozygotes. Both non-Jewish homozygotes and heterozygotes had lower factor XI activity than respective Jewish subjects. Twenty-eight homozygotes whose factor XI clotting activities (XI:C) were 1.5% to 13% had factor XI-related antigen (XI:RAG) levels less than 10% by EIA. In 72 homozygotes, including 22 patients who were also tested with EIA, XI:C was 2.9% +/- 3.0% (mean +/- SD) and XI:RAG tested by RIA, 2.9% +/- 3.0%. In 47 heterozygotes, XI:C and XI:RAG tested by RIA were 51.9% +/- 16.6% and 51.0% +/- 16.2%, respectively. Similar results were obtained when only unrelated patients (62 homozygotes and 27 heterozygotes) were analyzed. There was a highly significant correlation between XI:C and XI:RAG (RIA) in 38 homozygotes and 47 heterozygotes (r = 0.94, n = 85, P less than 0.001). Thus, we failed to identify functionally abnormal factor XI molecules (CRM+ variant) in these patients with hereditary factor XI deficiency.

Increased demyelination and axonal damage in metallothionein I+II-deficient mice during experimental autoimmune encephalomyelitis

DEFF Research Database (Denmark)

Penkowa, M; Espejo, C; Martínez-Cáceres, E M

2003-01-01

Metallothioneins I+II (MT-I+II) are antioxidant, neuroprotective factors. We previously showed that MT-I+II deficiency during experimental autoimmune encephalomyelitis (EAE) leads to increased disease incidence and clinical symptoms. Moreover, the inflammatory response of macrophages and T cells......, oxidative stress, and apoptotic cell death during EAE were increased by MT-I+II deficiency. We now show for the first time that demyelination and axonal damage are significantly increased in MT-I+II deficient mice during EAE. Furthermore, oligodendroglial regeneration, growth cone formation, and tissue...... repair including expression of trophic factors were significantly reduced in MT-I+II-deficient mice during EAE. Accordingly, MT-I+II have protective and regenerative roles in the brain....

XIII International science and technology conference High-tech chemical technologies-2010 with elements of Scientific school for young people Innovations in chemistry: achievements and prospects. Summaries of reports

International Nuclear Information System (INIS)

2010-01-01

Materials of the XIII International science and technology conference High-tech chemical technologies-2010 with elements of Scientific school for young people Innovations in chemistry: achievements and prospects (29 June-2 July 2010, Ivanovo) are presented. During the conference the following areas: theoretical aspects of chemical technology; technology of deep oil refining and the production of organic substances; technology of drugs and biologically active substances; technology of inorganic materials, polymers and composites based on them - the technological principles and methods of synthesis, modification, and processing; environmental and economic problems of chemical technologies and their solutions are considered [ru

Prevalence and risk factors for vitamin C deficiency in north and south India: a two centre population based study in people aged 60 years and over.

Directory of Open Access Journals (Sweden)

Ravilla D Ravindran

Full Text Available Studies from the UK and North America have reported vitamin C deficiency in around 1 in 5 men and 1 in 9 women in low income groups. There are few data on vitamin C deficiency in resource poor countries.To investigate the prevalence of vitamin C deficiency in India.We carried out a population-based cross-sectional survey in two areas of north and south India. Randomly sampled clusters were enumerated to identify people aged 60 and over. Participants (75% response rate were interviewed for tobacco, alcohol, cooking fuel use, 24 hour diet recall and underwent anthropometry and blood collection. Vitamin C was measured using an enzyme-based assay in plasma stabilized with metaphosphoric acid. We categorised vitamin C status as deficient (28 µmol/L. We investigated factors associated with vitamin C deficiency using multivariable Poisson regression.The age, sex and season standardized prevalence of vitamin C deficiency was 73.9% (95% confidence Interval, CI 70.4,77.5 in 2668 people in north India and 45.7% (95% CI 42.5,48.9 in 2970 from south India. Only 10.8% in the north and 25.9% in the south met the criteria for adequate levels. Vitamin C deficiency varied by season, and was more prevalent in men, with increasing age, users of tobacco and biomass fuels, in those with anthropometric indicators of poor nutrition and with lower intakes of dietary vitamin C.In poor communities, such as in our study, consideration needs to be given to measures to improve the consumption of vitamin C rich foods and to discourage the use of tobacco.

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 ...

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.

Science.gov (United States)

Yu, T; Wang, X; Ding, Q; Fu, Q; Dai, J; Lu, Y; Xi, X; Wang, H

2009-11-01

Factor VII deficiency which transmitted as an autosomal recessive disorder is a rare haemorrhagic condition. The aim of this study was to identify the molecular genetic defect and determine its functional consequences in a Chinese pedigree with FVII deficiency. The proband was diagnosed as inherited coagulation FVII deficiency by reduced plasma levels of FVII activity (4.4%) and antigen (38.5%). All nine exons and their flanking sequence of F7 gene were amplified by polymerase chain reaction (PCR) for the proband and the PCR products were directly sequenced. The compound heterozygous mutations of F7 (NM_000131.3) c.572-1G>A and F7 (NM_000131.3) c.1165T>G; p.Cys389Gly were identified in the proband's F7 gene. To investigate the splicing patterns associated with F7 c.572-1G>A, ectopic transcripts in leucocytes of the proband were analyzed. F7 minigenes, spanning from intron 4 to intron 7 and carrying either an A or a G at position -1 of intron 5, were constructed and transiently transfected into human embryonic kidney (HEK) 293T cells, followed by RT-PCR analysis. The aberrant transcripts from the F7 c.572-1G>A mutant allele were not detected by ectopic transcription study. Sequencing of the RT-PCR products from the mutant transfectant demonstrated the production of an erroneously spliced mRNA with exon 6 skipping, whereas a normal splicing occurred in the wide type transfectant. The aberrant mRNA produced from the F7 c.572-1G>A mutant allele is responsible for the factor VII deficiency in this pedigree.

Peripheral kynurenine-3-monooxygenase deficiency as a potential risk factor for metabolic syndrome in schizophrenia patients.

Science.gov (United States)

Oxenkrug, Gregory; van der Hart, Marieke; Roeser, Julien; Summergrad, Paul

2017-01-01

Increased predisposition of schizophrenia patients (SP) to development of obesity and insulin resistance suggested common signaling pathway between metabolic syndrome (MetS) and schizophrenia. Deficiency of kynurenine-3-monooxygenase (KMO), enzyme catalyzing formation of 3-hydroxykynurenine (3-HK) from kynurenine (Kyn), a tryptophan (Trp) metabolite, might contribute to development of MetS as suggested by non-expression of KMO genes in human fat tissue and elevated serum concentrations of Kyn and its metabolites, kynurenic (KYNA) and anthranilic (ANA) acids, in diabetic patients and Zucker fatty rats (ZFR). Markers of KMO deficiency: decreased 3-HK and elevated Kyn, KYNA and ANA, were observed in brains and spinal fluids of SP, and in brains and serum of experimental animals with genetically- or pharmacologically-induced KMO deficiency. However, elevated concentrations of ANA and decreased 3-HK were reported in serum of SP without concurrent increase of Kyn and KYNA. Present study aimed to re-assess serum Kyn metabolites (HPLC-MS) in a sub-group of SP with elevated KYNA. We found increased Kyn concentrations (by 30%) and Kyn:Trp ratio (by 20%) in serum of SP with elevated KYNA concentrations (by 40%). Obtained results and our previous data suggest that peripheral KMO deficiency might be manifested by, at least, two different patterns: elevated ANA with decreased 3-HK; and elevated KYNA and KYN. The latter pattern was previously described in type 2 diabetes patients and might underline increased predisposition of SP to development of MetS. Assessment of peripheral KMO deficiency might identify SP predisposed to MetS. Attenuation of the consequences of peripheral KMO deficiency might be a new target for prevention/treatment of obesity and diabetes in SP.

“Et qui or me vaurra entendre, cuer et oreilles me doit rendre”: espacios de lectura y público de los roman courtois de Chrétien de Troyes (siglos XII-XIII

Directory of Open Access Journals (Sweden)

Diego Carlo Améndolla Spinola

2016-06-01

Full Text Available Basado en los planteamientos de la lógica social del texto, este artículo presenta un estudio del público que escuchaba los romances corteses entre los siglo XII y XIII, específicamente los realizados por Chrétien de Troyes –clérigo lector de la Corte de Leonor de Aquitania y de Enrique II Plantagenet–, además de establecer y analizar las diversas salas de los castillos donde estas obras literarias eran narradas.

Insulin-Like Growth Factor I (IGF-1) Deficiency Ameliorates Sex Difference in Cardiac Contractile Function and Intracellular Ca2+ Homeostasis

Science.gov (United States)

Ceylan-Isik, Asli F.; Li, Qun; Ren, Jun

2011-01-01

Sex difference in cardiac contractile function exists which may contribute to the different prevalence in cardiovascular diseases between genders. However, the precise mechanisms of action behind sex difference in cardiac function are still elusive. Given that sex difference exists in insulin-like growth factor I (IGF-1) cascade, this study is designed to evaluate the impact of severe liver IGF-1 deficiency (LID) on sex difference in cardiac function. Echocardiographic, cardiomyocyte contractile and intracellular Ca2+ properties were evaluated including ventricular geometry, fractional shortening, peak shortening, maximal velocity of shortening/relengthening (± dL/dt), time-to-peak shortening (TPS), time-to-90% relengthening (TR90), fura-fluorescence intensity (FFI) and intracellular Ca2+ clearance. Female C57 mice exhibited significantly higher plasma IGF-1 levels than their male counterpart. LID mice possessed comparably low IGF-1 levels in both sexes. Female C57 and LID mice displayed lower body, heart and liver weights compared to male counterparts. Echocardiographic analysis revealed larger LV mass in female C57 but not LID mice without sex difference in other cardiac geometric indices. Myocytes from female C57 mice exhibited reduced peak shortening, ± dL/dt, longer TPS, TR90 and intracellular Ca2+ clearance compared with males. Interestingly, this sex difference was greatly attenuated or abolished by IGF-1 deficiency. Female C57 mice displayed significantly decreased mRNA and protein levels of Na+-Ca2+ exchanger, SERCA2a and phosphorylated phospholamban as well as SERCA activity compared with male C57 mice. These sex differences in Ca2+ regulatory proteins were abolished or overtly attenuated by IGF-1 deficiency. In summary, our data suggested that IGF-1 deficiency may significantly attenuated or mitigate the sex difference in cardiomyocyte contractile function associated with intracellular Ca2+ regulation. PMID:21763763

Insulin-like growth factor I (IGF-1) deficiency ameliorates sex difference in cardiac contractile function and intracellular Ca(2+) homeostasis.

Science.gov (United States)

Ceylan-Isik, Asli F; Li, Qun; Ren, Jun

2011-10-10

Sex difference in cardiac contractile function exists which may contribute to the different prevalence in cardiovascular diseases between genders. However, the precise mechanisms of action behind sex difference in cardiac function are still elusive. Given that sex difference exists in insulin-like growth factor I (IGF-1) cascade, this study is designed to evaluate the impact of severe liver IGF-1 deficiency (LID) on sex difference in cardiac function. Echocardiographic, cardiomyocyte contractile and intracellular Ca(2+) properties were evaluated including ventricular geometry, fractional shortening, peak shortening, maximal velocity of shortening/relengthening (±dL/dt), time-to-peak shortening (TPS), time-to-90% relengthening (TR(90)), fura-fluorescence intensity (FFI) and intracellular Ca(2+) clearance. Female C57 mice exhibited significantly higher plasma IGF-1 levels than their male counterpart. LID mice possessed comparably low IGF-1 levels in both sexes. Female C57 and LID mice displayed lower body, heart and liver weights compared to male counterparts. Echocardiographic analysis revealed larger LV mass in female C57 but not LID mice without sex difference in other cardiac geometric indices. Myocytes from female C57 mice exhibited reduced peak shortening, ±dL/dt, longer TPS, TR(90) and intracellular Ca(2+) clearance compared with males. Interestingly, this sex difference was greatly attenuated or abolished by IGF-1 deficiency. Female C57 mice displayed significantly decreased mRNA and protein levels of Na(+)-Ca(2+) exchanger, SERCA2a and phosphorylated phospholamban as well as SERCA activity compared with male C57 mice. These sex differences in Ca(2+) regulatory proteins were abolished or overtly attenuated by IGF-1 deficiency. In summary, our data suggested that IGF-1 deficiency may significantly attenuated or mitigate the sex difference in cardiomyocyte contractile function associated with intracellular Ca(2+) regulation. Copyright © 2011 Elsevier Ireland

Iron-Deficiency Anemia

Medline Plus

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

Factores de riesgo de la anemia por deficiencia de hierro en lactantes de un área de salud Risk factors of iron-deficiency anemia in infants from a health area

Directory of Open Access Journals (Sweden)

Hortensia Gautier du Défaix Gómez

1999-12-01

Full Text Available Se estudiaron 57 lactantes, supuestamente sanos y tomados al azar, de la población urbana entre 6 y 12 meses de edad de un policlínico de la Ciudad de La Habana, con el objetivo de determinar la frecuencia de anemia por deficiencia de hierro y sus factores de riesgo. Se observó anemia por deficiencia de hierro relacionada con la lactancia materna exclusiva de menos de 4 meses de duración, la introducción temprana e ingestión exagerada de leche de vaca y el antecedente de diarreas e ingresos por esta causa. Se halló además correlación directa y significativa del peso al nacer con la ferritina y de la edad gestacional en el momento del parto con la hemoglobina, así como correlación directa de todos los indicadores de la deficiencia de hierro con la duración de la lactancia materna. El rápido crecimiento corporal, la dieta cuyo componente principal fue la leche de vaca y el aumento de las pérdidas por diarreas, constituyen las causas más frecuentes de deficiencia de hierro en este estudio57 infants who were apparently spund were selected at random from the urban population aged 6-12 months of a polyclinic in Havana City aimed at determining the frequency of iron-deficiency anemia and its risk factors. It was observed that iron-deficiency anemia was connected with exclusive breast feeding of less than 4 months of duration, the early introduction and exagerated ingestion of cow milk and the history of diarrheas and admissions for this cause. A direct and significant correlation was found between birth weight and ferritin and between gestational age at delivery and hemoglobin. A direct correlation of all the indicators of iron-deficiency anemia with the duration of breast feeding was also noted. The rapid body growth, the diet with cow milk as the main component and the increase of losses due to diarrheas were the commonest causes of iron-deficiency anemia according to this study

ECONOMICAL BASIS TO ADDRESS MICRONUTRIENT DEFICIENCIES IN DEVELOPING WORLD

Directory of Open Access Journals (Sweden)

Amirul Hassan

2015-12-01

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

A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.

Science.gov (United States)

Jiang, Minghua; Wang, Zhaoyue; Yu, Ziqiang; Bai, Xia; Su, Jian; Cao, Lijuan; Zhang, Wei; Ruan, Changgeng

2011-06-01

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder. Its clinical manifestation and mutational spectrum are highly variable. The purpose of this study was to identify and characterize the mutation causing the FVII deficiency in a Chinese patient and his family. The FVII gene was analyzed by genomic DNA sequencing, and the FVII levels in patient's plasma were measured with an enzyme-linked immunoabsorbent assay (ELISA) and one-stage prothrombin time based method. In addition, the FVII-Phe190 mutant identified in the pedigree was expressed in the HEK293 cells, and the subcellular localization experiments in the Chinese hamster ovary (CHO) cells were performed. The patient had a prolonged prothrombin time and low levels of both FVII antigen and activity, and two heterozygous mutations were identified in F7 gene (NG-009262.1): a g.15975 G>A in the splice receptor site of intron 6 and a novel g.16750 C>T in exon 8 resulting in Ser190 to Phe190 replacement. In expression experiments, the reduced antigen and activity levels of FVII-Phe190 in the culture medium were found, whereas an ELISA and Western blotting analysis of FVII revealed that mutant FVII-Phe190 was synthesized in the cells as the wild-type FVII-Ser190. And FVII-Phe190 was found in endoplasmic reticulum and Golgi apparatus. Compound heterozygous mutations in F7 gene should be responsible for the FVII deficiency in this patient. The FVII-Phe190 can normally be synthesized and transported from endoplasmic reticulum to Golgi apparatus, but degraded or inefficiently secreted.

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,...

Management of Labour and Delivery in a Patient With Acquired Factor VII Deficiency With Inhibitor: A Case Report.

Science.gov (United States)

Matei, Anca; Dolan, Sean; Andrews, James; Rivard, Georges-Étienne

2016-02-01

Acquired factor VII (FVII) deficiency with inhibitor increases the risk of hemorrhage during pregnancy. However, there are no published reports guiding its management in the peripartum period. A 24-year-old woman with inhibitory antibodies to FVII delivered at 34 weeks of gestation. The patient was administered recombinant factor VIIa (rFVIIa) and tranexamic acid. There were no bleeding-related complications; however, the FVII level was supratherapeutic. The patient returned during a second pregnancy. A reduced dose of rFVIIa was administered. The delivery was complicated by postpartum hemorrhage, which resolved with the addition of uterotonic agents. Recombinant FVIIa and tranexamic acid offer an effective peripartum treatment in women with inhibitory antibody to FVII. Further research should delineate the optimal time of administration. Copyright © 2016 Society of Obstetricians and Gynaecologists of Canada. Published by Elsevier Inc. All rights reserved.

A link between premenopausal iron deficiency and breast cancer malignancy

International Nuclear Information System (INIS)

Jian, Jinlong; Li, Jinqing; Huang, Xi; Yang, Qing; Shao, Yongzhao; Axelrod, Deborah; Smith, Julia; Singh, Baljit; Krauter, Stephanie; Chiriboga, Luis; Yang, Zhaoxu

2013-01-01

Young breast cancer (BC) patients less than 45 years old are at higher risk of dying from the disease when compared to their older counterparts. However, specific risk factors leading to this poorer outcome have not been identified. One candidate is iron deficiency, as this is common in young women and a clinical feature of young age. In the present study, we used immuno-competent and immuno-deficient mouse xenograft models as well as hemoglobin as a marker of iron status in young BC patients to demonstrate whether host iron deficiency plays a pro-metastatic role. We showed that mice fed an iron-deficient diet had significantly higher tumor volumes and lung metastasis compared to those fed normal iron diets. Iron deficiency mainly altered Notch but not TGF-β and Wnt signaling in the primary tumor, leading to the activation of epithelial mesenchymal transition (EMT). This was revealed by increased expression of Snai1 and decreased expression of E-cadherin. Importantly, correcting iron deficiency by iron therapy reduced primary tumor volume, lung metastasis, and reversed EMT markers in mice. Furthermore, we found that mild iron deficiency was significantly associated with lymph node invasion in young BC patients (p<0.002). Together, our finding indicates that host iron deficiency could be a contributor of poor prognosis in young BC patients

Quando rey perdemos nunq[u]a bien nos fallamos. La muerte del rey en la Castilla del siglo XIII

Directory of Open Access Journals (Sweden)

Pérez Monzón, Olga

2007-12-01

Full Text Available This article deals with the funeral spaces of the Castilian kings during the 13th century, and the iconography of their tombs as the reflection of a political ideational system tending toward the sanctification of the monarchy. This elevation of royalty provoked an open conflict with certain members of the nobility and the royal family, as well as a political and artistic response.

El presente artículo trata sobre los ámbitos fúnebres de los reyes castellanos durante el siglo XIII y la particularidad iconográfica de sus monumentos tumulares como reflejo de un ideario político tendente a la sacralización de la monarquía. El encumbramiento de la realeza provocó un abierto conflicto con determinados miembros de la realeza y la familia real y una respuesta política y artística.

Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons

Science.gov (United States)

Rygiel, Karolina A.; Hepplewhite, Philippa D.; Morris, Christopher M.; Picard, Martin; Turnbull, Doug M.

2016-01-01

Objective To determine the extent of respiratory chain abnormalities and investigate the contribution of mtDNA to the loss of respiratory chain complexes (CI–IV) in the substantia nigra (SN) of idiopathic Parkinson disease (IPD) patients at the single‐neuron level. Methods Multiple‐label immunofluorescence was applied to postmortem sections of 10 IPD patients and 10 controls to quantify the abundance of CI–IV subunits (NDUFB8 or NDUFA13, SDHA, UQCRC2, and COXI) and mitochondrial transcription factors (TFAM and TFB2M) relative to mitochondrial mass (porin and GRP75) in dopaminergic neurons. To assess the involvement of mtDNA in respiratory chain deficiency in IPD, SN neurons, isolated with laser‐capture microdissection, were assayed for mtDNA deletions, copy number, and presence of transcription/replication‐associated 7S DNA employing a triplex real‐time polymerase chain reaction (PCR) assay. Results Whereas mitochondrial mass was unchanged in single SN neurons from IPD patients, we observed a significant reduction in the abundances of CI and II subunits. At the single‐cell level, CI and II deficiencies were correlated in patients. The CI deficiency concomitantly occurred with low abundances of the mtDNA transcription factors TFAM and TFB2M, which also initiate transcription‐primed mtDNA replication. Consistent with this, real‐time PCR analysis revealed fewer transcription/replication‐associated mtDNA molecules and an overall reduction in mtDNA copy number in patients. This effect was more pronounced in single IPD neurons with severe CI deficiency. Interpretation Respiratory chain dysfunction in IPD neurons not only involves CI, but also extends to CII. These deficiencies are possibly a consequence of the interplay between nDNA and mtDNA‐encoded factors mechanistically connected via TFAM. ANN NEUROL 2016;79:366–378 PMID:26605748

Iron-Deficiency Anemia

Medline Plus

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

Two-incision laparoscopic appendectomy for a severe hemophilia A child patient with coagulation factor VII deficiency: Case report and review of literature.

Science.gov (United States)

He, Jin Peng; Feng, Jie Xiong

2017-10-01

The main complication of patients with severe hemophilia is recurrent bleeding events that usually affected musculoskeletal contractures. And replacement therapy methods were continuously improved to minimize adverse impacts brought by those complications. However, only several cases reported about the appendectomy for hemophilia A. We report a case of acute appendicitis treated by two-incision laparoscopy in a boy with hemophilia A and coagulation factor VII deficiency for the first time. An 8y7m-old Chinese boy presented with half a day of right sided abdominal pain, fever, nausea, and vomiting. He received a computed tomography (CT) scan which revealed an enlarged appendix, thickened wall and appendiceal fecalith, and had received a conservative anti-bacterial treatment for his acute appendicitis but failed. He was diagnosed with hemophilia A and coagulation factor VII deficiency. Two-incision laparoscopic appendectomy was made in success with a careful management of perioperative period. We monitored the clotting factor FVIII level and gave him a replacement therapy. The patient had an uneventful recovery. It is important to exclude intraabdominal or retroperitoneal hemorrhage in patients suffering from hemophilia and acute abdominal pain. Pre-operative evaluation of validity of the FVIII replacement therapy is another effective strategy to assess the safety and feasibility of applying an operation procedure. The two-incision laparoscopic appendectomy is an effective treatment for this kind of patients for its minimal trauma and fast recovery characteristics. Our report shows that laparoscopic appendectomy is feasible in a child suffering from hemophilia after adequate blood clotting factor replacement treatment.

Genetics Home Reference: corticosteroid-binding globulin deficiency

Science.gov (United States)

... There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue. Learn more about the gene associated with corticosteroid-binding globulin deficiency SERPINA6 Related Information What is a gene? What is a ...

Global burden of maternal and child undernutrition and micronutrient deficiencies.

Science.gov (United States)

Ahmed, Tahmeed; Hossain, Muttaquina; Sanin, Kazi Istiaque

2012-01-01

Maternal and child undernutrition and micronutrient deficiencies affect approximately half of the world's population. These conditions include intrauterine growth restriction (IUGR), low birth weight, protein-energy malnutrition, chronic energy deficit of women, and micronutrient deficiencies. Although the rates of stunting or chronic protein-energy malnutrition are increasing in Africa, the absolute numbers of stunted children are much higher in Asia. The four common micronutrient deficiencies include those of iron, iodine, vitamin A, and zinc. All these conditions are responsible directly or indirectly for more than 50% of all under-5 deaths globally. According to more recent estimates, IUGR, stunting and severe wasting are responsible for one third of under-5 mortality. About 12% of deaths among under-5 children are attributed to the deficiency of the four common micronutrients. Despite tremendous progress in different disciplines and unprecedented improvement with many health indicators, persistently high undernutrition rates are a shame to the society. Human development is not possible without taking care to control undernutrition and micronutrient deficiencies. Poverty, food insecurity, ignorance, lack of appropriate infant and young child feeding practices, heavy burden of infectious illnesses, and poor hygiene and sanitation are factors responsible for the high levels of maternal and child undernutrition in developing countries. These factors can be controlled or removed by scaling up direct nutrition interventions and eliminating the root conditions including female illiteracy, lack of livelihoods, lack of women's empowerment, and poor hygiene and sanitation. Copyright © 2013 S. Karger AG, Basel.

Effects on coagulation factor production following primary hepatomitogen-induced direct hyperplasia.

Science.gov (United States)

Tatsumi, Kohei; Ohashi, Kazuo; Taminishi, Sanae; Takagi, Soichi; Utoh, Rie; Yoshioka, Akira; Shima, Midori; Okano, Teruo

2009-11-14

To investigate the molecular mechanisms involved in coagulation factor expression and/or function during direct hyperplasia (DH)-mediated liver regeneration. Direct hyperplasia-mediated liver regeneration was induced in female C57BL/6 mice by administering 1,4-bis[2-(3,5-dichloropyridyloxy)] benzene (TCPOBOP), a representative hepatomitogen. Mice were weighed and sacrificed at various time points [Day 0 (D0: prior to injection), 3 h, D1, D2, D3, and D10] after TCPOBOP administration to obtain liver and blood samples. Using the RNA samples extracted from the liver, a comprehensive analysis was performed on the hepatic gene expression profiling of coagulation-related factors by real-time RT-PCR (fibrinogen, prothrombin, factors V, VII, VIII, IX, X, XI, XII, XIIIbeta, plasminogen, antithrombin, protein C, protein S, ADAMTS13, and VWF). The corresponding plasma levels of coagulation factors (fibrinogen, prothrombin, factors V, VII, VIII, IX, X, XI, XII, XIII, and VWF) were also analyzed and compared with their mRNA levels. Gavage administration of TCPOBOP (3 mg/kg body weight) resulted in a marked and gradual increase in the weight of the mouse livers relative to the total body weight to 220% by D10 relative to the D0 (control) ratios. At the peak of liver regeneration (D1 and D2), the gene expression levels for most of the coagulation-related factors (fibrinogen, prothrombin, factors V, VII, VIII, IX, XI, XII, XIIIbeta, plasminogen, antithrombin, protein C, ADAMTS13, VWF) were found to be down-regulated in a time-dependent manner, and gradually recovered by D10 to the basal levels. Only mRNA levels of factor X and protein S failed to show any decrease during the regenerative phase. As for the plasma levels, 5 clotting factors (prothrombin, factors VIII, IX, XI, and XII) demonstrated a significant decrease (Pfactors, factor IX and factor XI showed the most dramatic decline in their activities by about 50% at D2 compared to the basal levels, and these reductions in

Iodine deficiency disorders

Energy Technology Data Exchange (ETDEWEB)

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

1994-12-31

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

Glycan-deficient PrP stimulates VEGFR2 signaling via glycosaminoglycan.

Science.gov (United States)

Gao, Zhenxing; Zhang, Huixia; Hu, Fei; Yang, Liheng; Yang, Xiaowen; Zhu, Ying; Sy, Man-Sun; Li, Chaoyang

2016-06-01

Whether the two N-linked glycans are important in prion, PrP, biology is unresolved. In Chinese hamster ovary (CHO) cells, the two glycans are clearly not important in the cell surface expression of transfected human PrP. Compared to fully-glycosylated PrP, glycan-deficient PrP preferentially partitions to lipid raft. In CHO cells glycan-deficient PrP also interacts with glycosaminoglycan (GAG) and vascular endothelial growth factor receptor 2 (VEGFR2), resulting in VEGFR2 activation and enhanced Akt phosphorylation. Accordingly, CHO cells expressing glycan-deficient PrP lacking the GAG binding motif or cells treated with heparinase to remove GAG show diminished Akt signaling. Being in lipid raft is critical, chimeric glycan-deficient PrP with CD4 transmembrane and cytoplasmic domains is absent in lipid raft and does not activate Akt signaling. CHO cells bearing glycan-deficient PrP also exhibit enhanced cellular adhesion and migration. Based on these findings, we propose a model in which glycan-deficient PrP, GAG, and VEGFR2 interact, activating VEGFR2 and resulting in changes in cellular behavior. Copyright © 2016 Elsevier Inc. All rights reserved.

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...

Glucose-6-phosphate dehydrogenase (G6PD)-deficient infants: Enzyme activity and gene variants as risk factors for phototherapy in the first week of life.

Science.gov (United States)

Wong, Fei-Liang; Ithnin, Azlin; Othman, Ainoon; Cheah, Fook-Choe

2017-07-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a recognised cause of severe neonatal hyperbilirubinaemia, and identifying which infants are at risk could optimise care and resources. In this study, we determined if G6PD enzyme activity (EA) and certain gene variants were associated with neonatal hyperbilirubinaemia requiring phototherapy during the first week after birth. Newborn infants with G6PD deficiency and a group with normal results obtained by the fluorescent spot test were selected for analyses of G6PD EA and the 10 commonly encountered G6PD mutations in this region, relating these with whether the infants required phototherapy before discharge from the hospital in the first week. A total of 222 infants with mean gestation and birth weight of 38.3 ± 1.8 weeks and 3.02 ± 0.48 kg, respectively, were enrolled. Of these, n = 121 were deficient with EA ≤6.76 U/g Hb, and approximately half (43%) received phototherapy in the first week after birth. The mean EA level was 3.7 U/g Hb. The EA had good accuracy in predicting phototherapy use, with area under the receiver-operating-characteristic curve of 0.81 ± 0.05. Infants on phototherapy more commonly displayed World Health Organization Class II mutations (deficiency in EA and mutation at c.1388G>A (adjusted odds ratio, 1.5 and 5.7; 95% confidence interval: 1.31-1.76 and 1.30-25.0, respectively) were independent risk factors for phototherapy. Low G6PD EA (G6PD gene variant, c.1388G>A, are risk factors for the need of phototherapy in newborn infants during the first week after birth. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Model of how plants sense zinc deficiency

DEFF Research Database (Denmark)

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

2013-01-01

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

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.

Zinc deficiency in the pediatric age group is common but underevaluated.

Science.gov (United States)

Vuralli, Dogus; Tumer, Leyla; Hasanoglu, Alev

2017-08-01

Subclinical micronutrient deficiencies have been gradually becoming more important as a public health problem and drawing attention of the health authorities. Today it has been known that detecting and treating people having deficiency symptoms alone is no longer sufficient. It is important to detect and prevent any deficiency before it displays clinical manifestations. Zinc deficiency is one of the most widespread micronutrient deficiencies. In this study, we aimed to evaluate the zinc status and the associated factors in healthy school-age children. The study was carried out in schools in Altindag, the district of Ankara. A total of 1063 healthy children, 585 girls and 478 boys, aged 5-16 years were included in the study. Serum zinc, high-sensitivity C-reactive protein levels and white blood cell count were measured. A serum zinc level zinc deficiency for children zinc concentration were set at 66 μg/dL for females and 70 μg/dL for males. A questionnaire was developed to collect socioeconomic and demographic information of the participants. The prevalence of subclinical zinc deficiency in children attending the study was detected to be 27.8%. This high ratio showed zinc deficiency was an important health problem in the Altindag district of Ankara, Turkey. Evaluating the indicators of zinc deficiency such as serum zinc concentration, dietary zinc intake and stunting prevalence, this study is the most comprehensive epidemiological study performed in children in Turkey. This study reveals the high prevalence of subclinical zinc deficiency and indicates that zinc deficiency is a public health concern for the study population.

Deficiencies of the cryptography based on multiple-parameter fractional Fourier transform.

Science.gov (United States)

Ran, Qiwen; Zhang, Haiying; Zhang, Jin; Tan, Liying; Ma, Jing

2009-06-01

Methods of image encryption based on fractional Fourier transform have an incipient flaw in security. We show that the schemes have the deficiency that one group of encryption keys has many groups of keys to decrypt the encrypted image correctly for several reasons. In some schemes, many factors result in the deficiencies, such as the encryption scheme based on multiple-parameter fractional Fourier transform [Opt. Lett.33, 581 (2008)]. A modified method is proposed to avoid all the deficiencies. Security and reliability are greatly improved without increasing the complexity of the encryption process. (c) 2009 Optical Society of America.

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

Directory of Open Access Journals (Sweden)

Patrick Lyn

2009-10-01

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

Clinical audit of inherited bleeding disorders in a developing country

Directory of Open Access Journals (Sweden)

Sajid Raihan

2010-01-01

Full Text Available Objective: We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials and Methods: All patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered patients were reviewed at Lahore center and of these, 408 patients (44.2% were on regular follow-up. Inherited bleeding disorders identified in these patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency; and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6% males and 79 (19.3% females. The products used in these patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these patients and one patient (0.2% was found hepatitis B positive, six patients (1.4% were hepatitis C positive and two patients (0.49% were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs are trying their best for providing optimal treatment

Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets.

Science.gov (United States)

Kubota, Takuo; Kitaoka, Taichi; Miura, Kohji; Fujiwara, Makoto; Ohata, Yasuhisa; Miyoshi, Yoko; Yamamoto, Keiko; Takeyari, Shinji; Yamamoto, Takehisa; Namba, Noriyuki; Ozono, Keiichi

2014-01-01

Vitamin D-deficient rickets (DR) has recently re-emerged among developed countries. Vitamin D deficiency can influence biochemical results of patients with fibroblast growth factor 23 (FGF23)-related hereditary hypophosphatemic rickets (HR), making differential diagnosis difficult. In the present study we evaluated the utility of serum FGF23 levels in the diagnosis of DR and during its treatment. The study group comprised 24 children with DR and 8 children with HR. Serum FGF23 levels and bone metabolism-related measurements were assessed. Serum FGF23 levels in patients with DR were less than 19 pg/ml, while those in patients with HR were more than 57 pg/ml. There were significant differences in serum levels of calcium, phosphate, parathyroid hormone, and 1,25-dihydroxyvitamin D, as well as tubular maximum phosphate reabsorption per glomerular filtration rate between patients with DR and HR, but these values were not fully mutually exclusive. In addition, serum FGF23 and phosphate levels were increased following treatment. Serum FGF23 level is the most critical biochemical marker for distinguishing DR from HR and might be a good indicator of biochemical response to the intervention. Serum FGF23 levels show utility for the diagnosis of DR and in the assessment of its response to treatment.

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.

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

Directory of Open Access Journals (Sweden)

Martine Bot

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

The Role of Thiamine and Effects of Deficiency in Dogs and Cats

Directory of Open Access Journals (Sweden)

Georgia Kritikos

2017-11-01

Full Text Available Recent pet food recalls for insufficient dietary thiamine have highlighted the importance of adequate thiamine intake in dogs and cats, as thiamine is an essential dietary nutrient with a critical role in energy metabolism. Prolonged thiamine deficiency leads to clinical signs that can span several organ systems, and deficiency can be fatal if not reversed. In this review, the current knowledge of thiamine metabolism will be summarized. Dietary recommendations for dogs and cats will be discussed, and the risk factors and clinical signs associated with thiamine deficiency will be examined.

The Role of Thiamine and Effects of Deficiency in Dogs and Cats

Science.gov (United States)

Kritikos, Georgia; Verbrugghe, Adronie

2017-01-01

Recent pet food recalls for insufficient dietary thiamine have highlighted the importance of adequate thiamine intake in dogs and cats, as thiamine is an essential dietary nutrient with a critical role in energy metabolism. Prolonged thiamine deficiency leads to clinical signs that can span several organ systems, and deficiency can be fatal if not reversed. In this review, the current knowledge of thiamine metabolism will be summarized. Dietary recommendations for dogs and cats will be discussed, and the risk factors and clinical signs associated with thiamine deficiency will be examined.

IGF-1 deficiency impairs cerebral myogenic autoregulation in hypertensive mice.

Science.gov (United States)

Toth, Peter; Tucsek, Zsuzsanna; Tarantini, Stefano; Sosnowska, Danuta; Gautam, Tripti; Mitschelen, Matthew; Koller, Akos; Sonntag, William E; Csiszar, Anna; Ungvari, Zoltan

2014-12-01

Aging impairs autoregulatory protection in the brain, exacerbating hypertension-induced cerebromicrovascular injury, neuroinflammation, and development of vascular cognitive impairment. Despite the importance of the age-related decline in circulating insulin-like growth factor-1 (IGF-1) levels in cerebrovascular aging, the effects of IGF-1 deficiency on functional adaptation of cerebral arteries to high blood pressure remain elusive. To determine whether IGF-1 deficiency impairs autoregulatory protection, hypertension was induced in control and IGF-1-deficient mice (Igf1(f/f)+TBG-iCre-AAV8) by chronic infusion of angiotensin-II. In hypertensive control mice, cerebral blood flow (CBF) autoregulation was extended to higher pressure values and the pressure-induced tone of middle cerebral arteries (MCAs) was increased. In hypertensive IGF-1-deficient mice, autoregulation was markedly disrupted, and MCAs did not show adaptive increases in myogenic tone. In control mice, the mechanism of adaptation to hypertension involved upregulation of TRPC channels in MCAs and this mechanism was impaired in hypertensive IGF-1-deficient mice. Likely downstream consequences of cerebrovascular autoregulatory dysfunction in hypertensive IGF-1-deficient mice included exacerbated disruption of the blood-brain barrier and neuroinflammation (microglia activation and upregulation of proinflammatory cytokines and chemokines), which were associated with impaired hippocampal cognitive function. Collectively, IGF-1 deficiency impairs autoregulatory protection in the brain of hypertensive mice, potentially exacerbating cerebromicrovascular injury and neuroinflammation mimicking the aging phenotype.

Effect of calcium deficiency on the mechanical properties of hydroxyapatite crystals

International Nuclear Information System (INIS)

Viswanath, B.; Shastry, V.V.; Ramamurty, U.; Ravishankar, N.

2010-01-01

The deterioration of the mechanical properties of bone with age is related to several factors including the structure, organization and chemistry of the constituent phases; however, the relative contribution of each of these factors is not well understood. In this study, we have investigated the effect of chemistry (calcium deficiency) on the mechanical properties of single crystals of hydroxyapatite. Single crystals of stoichiometric crystals grown by the flux method and calcium-deficient platelet crystals grown using wet chemical methods were used as model systems. Using nanoindentation, we show that calcium deficiency leads to an 80% reduction in the hardness and elastic modulus and at least a 75% reduction in toughness in plate-shaped hydroxyapatite crystals. Measurement of local mechanical properties using nanoindentation and nanoscale chemistry through elemental mapping in a transmission electron microscope points to a direct correlation between the observed spatial variation in composition and the large scatter in the measured hardness and modulus values.

Anti-thrombin III, Protein C, and Protein S deficiency in acute coronary syndrome

Directory of Open Access Journals (Sweden)

Dasnan Ismail

2002-06-01

Full Text Available The final most common pathway for the majority of coronary artery disease is occlusion of a coronary vessel. Under normal conditions, antithrombin III (AT III, protein C, and protein S as an active protein C cofactor, are natural anticoagulants (hemostatic control that balances procoagulant activity (thrombin antithrombin complex balance to prevent thrombosis. If the condition becomes unbalanced, natural anticoagulants and the procoagulants can lead to thrombosis. Thirty subjects with acute coronary syndrome (ACS were studied for the incidence of antithrombin III (AT III, protein C, and protein S deficiencies, and the result were compare to the control group. Among patients with ACS, the frequency of distribution of AT-III with activity < 75% were 23,3% (7 of 30, and only 6,7% ( 2 of 30 in control subject. No one of the 30 control subject have protein C activity deficient, in ACS with activity < 70% were 13,3% (4 of 30. Fifteen out of the 30 (50% control subjects had protein S activity deficiency, while protein S deficiency activity < 70% was found 73.3.% (22 out of 30. On linear regression, the deterministic coefficient of AT-III activity deficiency to the development ACS was 13,25 %, and the deterministic coefficient of protein C activity deficient to the development of ACS was 9,06 %. The cut-off point for AT-III without protein S deficiency expected to contribute to the development of vessel disease was 45%. On discriminant analysis, protein C activity deficiency posed a risk for ACS of 4,5 greater than non deficient subjects, and AT-III activity deficiency posed a risk for ACS of 3,5 times greater than non deficient subjects. On binary logistic regression, protein S activity acted only as a reinforcing factor of AT-III activity deficiency in the development of ACS. Protein C and AT III deficiency can trigger ACS, with determinant coefficients of 9,06% and 13,25% respectively. Low levels of protein C posed a greater risk of

Cell type-specific deficiency of c-kit gene expression in mutant mice of mi/mi genotype.

Science.gov (United States)

Isozaki, K.; Tsujimura, T.; Nomura, S.; Morii, E.; Koshimizu, U.; Nishimune, Y.; Kitamura, Y.

1994-01-01

The mi locus of mice encodes a novel member of the basic-helix-loop-helix-leucine zipper protein family of transcription factors (hereafter called mi factor). In addition to microphthalmus, osteopetrosis, and lack of melanocytes, mice of mi/mi genotype are deficient in mast cells. Since the c-kit receptor tyrosine kinase plays an important role in the development of mast cells, and since the c-kit expression by cultured mast cells from mi/mi mice is deficient in both mRNA and protein levels, the mast cell deficiency of mi/mi mice has been attributed at least in part to the deficient expression of c-kit. However, it remained to be examined whether the c-kit expression was also deficient in tissues of mi/mi mice. In the present study, we examined the c-kit expression by mi/mi skin mast cells using in situ hybridization and immunohistochemistry. Moreover, we examined the c-kit expression by various cells other than mast cells in tissues of mi/mi mice. We found that the c-kit expression was deficient in mast cells but not in erythroid precursors, testicular germ cells, and neurons of mi/mi mice. This suggested that the regulation of the c-kit transcription by the mi factor was dependent on cell types. Mice of mi/mi genotype appeared to be a useful model to analyze the function of transcription factors in the whole-animal level. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:7524330

Vitamin D deficiency as a risk factor for the development of autoantibodies in patients with ASIA and silicone breast implants: a cohort study and review of the literature.

Science.gov (United States)

Colaris, Maartje J L; van der Hulst, Rene R; Tervaert, Jan Willem Cohen

2017-05-01

The development of autoimmunity and/or autoimmune diseases is multifactorial. Vitamin D is one of the factors that might play a role. We postulated that both the presence of adjuvants and insufficient levels of vitamin D may result in the development of autoimmunity in patients with autoimmune/inflammatory syndrome induced by adjuvants (ASIA) in relation to silicone implant incompatibility. We measured vitamin D levels in 135 patients with ASIA in relation to silicone implant incompatibility and related findings to the presence of autoantibodies that are commonly used to diagnose systemic autoimmune diseases. Furthermore, we systematically reviewed the literature regarding vitamin D deficiency as a risk factor for the development of autoantibodies. Vitamin D measurements were available for analysis in 131 of 135 patients with ASIA in relation to SIIS. Twenty-three patients (18%) tested positive for autoantibodies, from which 18 patients (78%) had either a vitamin D deficiency or insufficiency (median vitamin D level 60.5 mmol/L), whereas five patients (22%) had sufficient vitamin D levels. The risk to develop autoantibodies was significantly increased in vitamin D deficient and/or insufficient patients [RR 3.14; 95% CI, 1.24-7.95; p = 0.009]. Reviewed literature suggested an association between vitamin D levels and the presence and/or titer levels of autoantibodies in different autoimmune diseases. From our current study and from our review of the literature, we conclude that vitamin D deficiency is related to the presence of autoantibodies. Whether vitamin D supplementation results in a decrease of autoimmunity needs to be studied prospectively.

Vitamin D deficiency in first episode psychosis: a case-control study.

Science.gov (United States)

Crews, Matthieu; Lally, John; Gardner-Sood, Poonam; Howes, Oliver; Bonaccorso, Stefania; Smith, Shubulade; Murray, Robin M; Di Forti, Marta; Gaughran, Fiona

2013-11-01

Vitamin D deficiency is seen in a high proportion of people with established psychotic disorders, but it is not known if this is present at onset of the illness. We set out to examine vitamin D levels in people with their first episode of psychosis (FEP). We conducted a matched case-control study to examine vitamin D levels and rates of vitamin D deficiency in sixty nine patients presenting with their FEP and sixty nine controls matched for age, sex and ethnicity. Differences between groups were tested using student's-t tests, paired t-tests and odds ratios for further analysis. Vitamin D levels were significantly lower in cases than in controls (pvitamin D deficient was 2.99 in the FEP group relative to the control group. There was no correlation between vitamin D levels and length of hospitalisation in the patient group (r=-0.027, p=0.827). We found higher rates of vitamin D deficiency in people with FEP compared to matched controls. Given that vitamin D is neuroprotective; that developmental vitamin D deficiency may be a risk factor for psychosis, and that incipient psychosis may affect lifestyle factors and diet, future studies are required to examine this association further. In the meantime, there is a need for more widespread testing of vitamin D levels in FEP and for the development of appropriate management strategies. © 2013 Elsevier B.V. All rights reserved.

PD-L1 Deficiency within Islets Reduces Allograft Survival in Mice.

Directory of Open Access Journals (Sweden)

Dongxia Ma

Full Text Available Islet transplantation may potentially cure type 1 diabetes mellitus (T1DM. However, immune rejection, especially that induced by the alloreactive T-cell response, remains a restraining factor for the long-term survival of grafted islets. Programmed death ligand-1 (PD-L1 is a negative costimulatory molecule. PD-L1 deficiency within the donor heart accelerates allograft rejection. Here, we investigate whether PD-L1 deficiency in donor islets reduces allograft survival time.Glucose Stimulation Assays were performed to evaluate whether PD-L1 deficiency has detrimental effects on islet function. Islets isolated from PDL1-deficient mice or wild- type (WT mice (C57BL/6j were implanted beneath the renal capsule of streptozotocin (STZ-induced diabetic BALB/c mice. Blood glucose levels and graft survival time after transplantation were monitored. Moreover, we analyzed the residual islets, infiltrating immune cells and alloreactive cells from the recipients.PD-L1 deficiency within islets does not affect islet function. However, islet PD-L1 deficiency increased allograft rejection and was associated with enhanced inflammatory cell infiltration and recipient T-cell alloreactivity.This is the first report to demonstrate that PD-L1 deficiency accelerated islet allograft rejection and regulated recipient alloimmune responses.

O moio-medida e o moio dos preços em Portugal nos séculos Xl a XIII

Directory of Open Access Journals (Sweden)

Seabra Lopes, Luis

2005-06-01

Full Text Available In this paper, the value of the modius (modio, moyo, moio in Portugal in the 11th to the 13th centuries is studied. By this time, the modius was both a measure of capacity and a unit used in the specification of prices. The author concludes that, while the modius-measure had a capacity not under the horse charge (210 to 220 litters in the legal systems used in Portugal from the end of the 11th century onwards, some smaller modii continued to be used in rural areas far away from the main urban centers. These smaller modii had a capacity around 50 to 75 litters. With respect to the modius-price, the information gathered by the author indicates a value between 25 and 55 litters of cereal. Therefore, it becomes clear that the modius-price was not equivalent to the standard modius-measure, although it could be equivalent to the smaller modii still in use in rural areas. The gathered evidence also suggests that, from the 10th to the 13th centuries, independently of inflation, the modius-price remained approximately equivalent to the currency unit known as solidus

Neste artigo, estuda-se o valor do moio (modius, modio, moyo em Portugal nos séculos XI a XIII. Nesta época, o moio era simultaneamente uma medida de capacidade e uma unidade usada na especificação dos preços. Este estudo permite concluir que, enquanto o moio-medida tinha, nos sistemas legais em vigor em Portugal a partir de finais do século XI, uma capacidade não inferior à carga de cavalo (210 a 220 litros, alguns moios mais pequenos continuaram a ser utilizados em áreas rurais afastadas dos principais centros urbanos. Estes moios mais pequenos tinham capacidades em torno de 50 a 75 litros. Relativamente ao moi-preço, a informação reunida indica um valor entre 25 e 55 litros de cereal, Torna-se, assim, evidente, que o moio-preço não era equivalente ao moio-medida comum, podendo, no entanto, ser equivalente aos moios menores que ainda sobreviviam nas áreas rurais. A

Effect of Growth Hormone Deficiency on Brain Structure, Motor Function and Cognition

Science.gov (United States)

Webb, Emma A.; O'Reilly, Michelle A.; Clayden, Jonathan D.; Seunarine, Kiran K.; Chong, Wui K.; Dale, Naomi; Salt, Alison; Clark, Chris A.; Dattani, Mehul T.

2012-01-01

The growth hormone-insulin-like growth factor-1 axis plays a role in normal brain growth but little is known of the effect of growth hormone deficiency on brain structure. Children with isolated growth hormone deficiency (peak growth hormone less than 6.7 [micro]g/l) and idiopathic short stature (peak growth hormone greater than 10 [micro]g/l)…

Growth hormone (GH) treatment increases serum insulin-like growth factor binding protein-3, bone isoenzyme alkaline phosphatase and forearm bone mineral content in young adults with GH deficiency of childhood onset

DEFF Research Database (Denmark)

Juul, A; Pedersen, S A; Sørensen, S

1994-01-01

Recent studies have demonstrated that growth hormone (GH)-deficient adults have a markedly decreased bone mineral content compared to healthy adults. However, there are conflicting results regarding the effects of GH treatment on bone mineral content in GH-deficient adults. Therefore, we evaluated...... the effect of GH treatment on a marker of bone formation (bone alkaline phosphatase), hepatic excretory function and distal forearm bone mineral content in GH-deficient adults. Growth hormone was administered subcutaneously in 21 adults (13 males and 8 females) with GH deficiency of childhood onset for 4...... months in a double-blind, placebo-controlled GH trial, while 13 of the patients then received further GH for an additional 14 months. Serum insulin-like growth factor I (IGF-I) increased significantly from 100 to 279 micrograms/l and IGF binding protein-3 (IGFBP-3) from 1930 to 3355 micrograms/l after 4...

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency

DEFF Research Database (Denmark)

Domené, Horacio M; Martínez, Alicia S; Frystyk, Jan

2007-01-01

BACKGROUND: In a recently described patient with acid-labile subunit (ALS) deficiency, the inability to form ternary complexes resulted in a marked reduction in circulating total insulin-like growth factor (IGF)-I, whereas skeletal growth was only marginally affected. To further study the role of...

Deficiência de ferro na criança Iron deficiency in infants and children

Directory of Open Access Journals (Sweden)

Josefina A. P. Braga

2010-06-01

diet and early weaning contribute to the high prevalence, mainly within the first 2 years of life. Other risk factors, such as prematurity, low birth weight, early umbilical cord clamping and weaning from exclusive breastfeeding may contribute. The impact of iron deficiency on growth is controversial as several other variables contribute to improve or worsen the nutritional status. Alterations in the psychomotor and neural-cognitive development of infants with iron deficiency have been reported in various studies with the catch-up growth rate after treatment being controversial. Additionally, some studies have demonstrated a decrease in the intellectual development and cognitive acquisition in school age children and adolescents that is reverted after iron therapy. The best preventive measure is nutritional education, however due to the high prevalence of iron deficiency anemia, other measures should also be used as iron supplementation and food fortification with iron.

Deficiency of 25-Hydroxyvitamin D and Dyslipidemia in Indian Subjects

Directory of Open Access Journals (Sweden)

Jaydip Ray Chaudhuri

2013-01-01

Full Text Available Background. Vitamin D deficiency is widespread throughout the world. Several reports have incriminated vitamin D deficiency as the cause of rickets, osteomalacia, and other chronic diseases. Recent studies have suggested a possible link between deficiency of 25-hydroxyvitamin D and dyslipidemia. Aim. To investigate the association between 25-hydroxyvitamin D deficiency and dyslipidemia in Indian subjects. Methodology. We recruited 150 asymptomatic consecutive subjects from patients’ attendees at the Departments of Neurology and Medicine in Yashoda Hospital, Hyderabad, India. Study period was from October 2011 to March 2012. All subjects underwent 25-hydroxyvitamin D assay by chemiluminescent microparticle immunoassay, fasting blood sugar and lipid profile, calcium, phosphorus, alkaline phosphatase, and C-reactive protein (CRP. Results. Out of 150 subjects, men were 82 (54.6%, and mean age was 49.4 (±15.6 years. Among risk factors, hypertension was noted in 63/150 (42%, 25-hydroxyvitamin D deficiency in 59/150 (39.3%, diabetes in 45/150 (30%, dyslipidemia in 60 (40%, smoking in 35/150 (23.3%, and alcoholism in 27/150 (18%. Deficiency of 25-hydroxyvitamin D was significantly associated with dyslipidemia (P=0.0001, mean serum glucose (P=0.0002 mean CRP (P=0.04, and mean alkaline phosphatase (P=0.01. Multivariate analysis showed that 25-hydroxyvitamin D deficiency was independently associated with dyslipidemia (odds ratio: 1.9; 95% CI : 1.1–3.5. Conclusions. We found that deficiency of 25-hydroxyvitamin D was independently associated with dyslipidemia in Indian subjects.

Situation of Iron Deficiency and Its Management Prioritizing Dietary Intervention in Nepal

DEFF Research Database (Denmark)

Adhikari, BK; Koirala, U; Lama, STA

2012-01-01

the extent of iron deficiency anemia and intake of dietary iron among the general population in Nepal. Materials and methods Published research articles, books, bulletins, and online materials regarding iron deficiency were studied in both national and international scenarios. Results Nearly 46 percent...... of children (6–59 months) and 35 percent of women (15–49 years) were still suffering from anemia though the trend has been decreasing for the last 15 years. Mostly, young children (6–23 months) and pregnant women were the victims due to their high iron requirements and lower intake of dietary iron. The most...... common risk factors related to iron deficiency anemia (IDA) found in different studies were low intake of dietary iron, vitamin A deficiency, hookworm infection, malaria, heavy menstrual blood loss, and multiparity. Iron deficiency situation in the Nepalese population is triggered by Illiteracy, lack...

Iron-Deficiency Anemia (For Parents)

Science.gov (United States)

... Videos for Educators Search English Español Iron-Deficiency Anemia KidsHealth / For Parents / Iron-Deficiency Anemia What's in ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

Progranulin Overproduction Due to Fli-1 Deficiency Contributes to the Resistance of Dermal Fibroblasts to Tumor Necrosis Factor in Systemic Sclerosis.

Science.gov (United States)

Ichimura, Yohei; Asano, Yoshihide; Akamata, Kaname; Noda, Shinji; Taniguchi, Takashi; Takahashi, Takehiro; Toyama, Tetsuo; Tada, Yayoi; Sugaya, Makoto; Sato, Shinichi; Kadono, Takafumi

2015-12-01

Progranulin is a growth factor that is active in wound repair and is an antagonist of tumor necrosis factor (TNF) receptors, regulating fibroblast activation, angiogenesis, and inflammation. Because long-standing activation of gene programs related to wound healing is a hallmark of systemic sclerosis (SSc), we sought to investigate the role of progranulin in SSc. Progranulin expression levels in human and murine skin samples were determined by immunohistochemical analysis and quantitative reverse transcription-polymerase chain reaction. The role of progranulin in fibroblast activation was examined using a gene-silencing technique. Progranulin levels in serum obtained from 60 patients with SSc and 16 healthy control subjects were determined by enzyme-linked immunosorbent assay. Progranulin expression was increased in SSc dermal fibroblasts compared with normal dermal fibroblasts, both in vivo and in vitro. Transcription factor Fli-1, a deficiency of which is involved in the activation of SSc dermal fibroblasts, served as a potent repressor of the progranulin gene, and Fli-1(+/-) mice and bleomycin-treated wild-type mice exhibited up-regulated expression of progranulin in dermal fibroblasts. SSc dermal fibroblasts were resistant to the antifibrotic effect of TNF, but this resistance was reversed by gene silencing of progranulin. Serum progranulin levels were elevated in patients with early diffuse cutaneous SSc (dcSSc), especially in those with inflammatory skin symptoms, and were positively correlated with the C-reactive protein level. Progranulin overproduction due to Fli-1 deficiency may contribute to the constitutive activation of SSc dermal fibroblasts by antagonizing the antifibrotic effect of TNF. Progranulin may also be involved in the inflammatory process associated with progressive skin sclerosis in early dcSSc. © 2015, American College of Rheumatology.

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

Tres Violantes: las mujeres de una familia en el poder a lo largo del siglo XIII

Directory of Open Access Journals (Sweden)

Fuente Pérez, María Jesús

2016-06-01

Full Text Available The power of women, in particular the power of queens, has been a topic of great interest to historians, medievalists in particular; though much has been written about the subject, many questions remain. “Three Violantes” will look at the role of two Iberian queens and one Spanish princess in the thirteenth century Iberian kingdoms. In England and in other European kingdoms of that time, queens had lost authority and their agency was limited to the power of intercession and mediation, I will try to determine whether this also holds true for the Iberian queens.El interés por el tema del poder de las mujeres, en particular de las reinas, ha planteado muchos interrogantes sobre la naturaleza de ese poder. “Tres Violantes” examina la participación de dos reinas y una infanta de una misma familia, en aspectos diversos de la vida de las coronas de Aragón y Castilla en el siglo XIII, con el objetivo de apreciar si el papel de las reinas hispanas, en particular su participación política, siguió un camino similar al de las reinas de ese tiempo que, como bien se ha estudiado para las inglesas, fueron perdiendo autoridad y se vieron limitadas a ejercer poder a través de la intercesión y mediación.

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

NARCIS (Netherlands)

Janssen, H. L.; Meinardi, J. R.; Vleggaar, F. P.; van Uum, S. H.; Haagsma, E. B.; van der Meer, F. J.; van Hattum, J.; Chamuleau, R. A.; Adang, R. P.; Vandenbroucke, J. P.; van Hoek, B.; Rosendaal, F. R.

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis : results of a case-control study

NARCIS (Netherlands)

Janssen, HLA; Meinardi, [No Value; Vleggaar, FP; van Uum, SHM; Haagsma, EB; van der Meer, FJM; van Hattum, J; Chamuleau, RAFM; Adang, RP; Vandenbroucke, JP; van Hoek, B; Rosendaal, FR

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), We compared 43 BCS

In SilicoModel-driven Assessment of the Effects of Brain-derived Neurotrophic Factor Deficiency on Glutamate and Gamma-Aminobutyric Acid: Implications for Understanding Schizophrenia Pathophysiology.

Science.gov (United States)

Agrawal, Rimjhim; Kalmady, Sunil Vasu; Venkatasubramanian, Ganesan

2017-05-31

Deficient brain-derived neurotrophic factor (BDNF) is one of the important mechanisms underlying the neuroplasticity abnormalities in schizophrenia. Aberration in BDNF signaling pathways directly or circuitously influences neurotransmitters like glutamate and gamma-aminobutyric acid (GABA). For the first time, this study attempts to construct and simulate the BDNF-neurotransmitter network in order to assess the effects of BDNF deficiency on glutamate and GABA. Using CellDesigner, we modeled BDNF interactions with calcium influx via N-methyl-D-aspartate receptor (NMDAR)- Calmodulin activation; synthesis of GABA via cell cycle regulators protein kinase B, glycogen synthase kinase and β-catenin; transportation of glutamate and GABA. Steady state stability, perturbation time-course simulation and sensitivity analysis were performed in COPASI after assigning the kinetic functions, optimizing the unknown parameters using random search and genetic algorithm. Study observations suggest that increased glutamate in hippocampus, similar to that seen in schizophrenia, could potentially be contributed by indirect pathway originated from BDNF. Deficient BDNF could suppress Glutamate decarboxylase 67-mediated GABA synthesis. Further, deficient BDNF corresponded to impaired transport via vesicular glutamate transporter, thereby further increasing the intracellular glutamate in GABAergic and glutamatergic cells. BDNF also altered calcium dependent neuroplasticity via NMDAR modulation. Sensitivity analysis showed that Calmodulin, cAMP response element-binding protein (CREB) and CREB regulated transcription coactivator-1 played significant role in this network. The study presents in silico quantitative model of biochemical network constituting the key signaling molecules implicated in schizophrenia pathogenesis. It provides mechanistic insights into putative contribution of deficient BNDF towards alterations in neurotransmitters and neuroplasticity that are consistent with current

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Directory of Open Access Journals (Sweden)

Meck Jeanne M

2006-01-01

Full Text Available Abstract Background Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. Case Presentation A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia, developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13t(13;16(q33;p13.3]. Specific BAC-probes were used to confirm the extent of the 13q deletion. Conclusion This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.

Effect of insulin-like growth factor-1 deficiency or administration on the occurrence of acne.

Science.gov (United States)

Ben-Amitai, D; Laron, Z

2011-08-01

The role of growth hormone, insulin, and insulin-like growth factor-1 (IGF-1) in the development of acne is incompletely understood. To study the effect of the absence of IGF-1 and its pharmacologic replacement on the occurrence of acne vulgaris. Laron syndrome (LS) is characterized by congenital IGF-1 deficiency. The study group consisted of 21 patients with classical LS, who underwent puberty: 13 (8 male, 5 female) untreated and under regular follow-up until age 20?48 years; and 8 (2 male, 6 female) treated with IGF-1 (70-200 μg/kg/day), including 6 adults (2 male, treated at age 14.5-29 years and 4 female, treated at age 30-37 years) and 2 adolescents (2 female, treated at age 3.5-16 years). The medical files were reviewed for occurrence of acne and the corresponding sex hormone levels, and the findings were compared between the treated and untreated patients. Puberty was delayed in all untreated patients. Only one patient had slight acne at age 22 years, when he reached full puberty. Among the 2 IGF-1 treated male patients, none acquired acne. Among the 6 treated female patients, 3 had signs of hyperandrogenism (oligo-amenorrhea) and acne during IGF-1 over-dosage. On reduction of the IGF-1 dose (to 50 μg/kg/day) or cessation of treatment, the acne disappeared in all 3 patients. This study demonstrates for the first time that serum IGF-1 deficiency prevents the occurrence of acne. The findings suggest that an interaction between IGF-1 and androgens is necessary for the development of acne. © 2010 The Authors. Journal of the European Academy of Dermatology and Venereology © 2010 European Academy of Dermatology and Venereology.

Vitamin B12 Deficiency in Type 2 Diabetes Mellitus

Directory of Open Access Journals (Sweden)

Carlos Tavares Bello

2017-10-01

Conclusion: Further studies are needed to identify the risk factors for the B12 deficit. The recognition of these variables will contribute to optimize the screening and prevention of the B12 deficiency in type 2 diabetes mellitus.

Intracranial hemorrhage in congenital bleeding disorders.

Science.gov (United States)

Tabibian, Shadi; Motlagh, Hoda; Naderi, Majid; Dorgalaleh, Akbar

2018-01-01

: Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death. This bleeding feature can also be observed in grey platelet syndrome, though less frequently than in Glanzmann's thrombasthenia. In hemophilia, intracerebral hemorrhage is affected by various risk factors one of which is the severity of the disease. The precise prevalence of ICH in these patients is not clear but an estimated incidence of 3.5-4% among newborns with hemophilia is largely ascertained. Although ICH is a rare phenomenon in CBDs, it can be experienced by every patient with severe hemophilia A and B, FXIII deficiency (FXIIID), FVIID, FXD, FVD, FIID, and afibrinogenemia. Upon observing the general signs and symptoms of ICH such as vomiting, seizure, unconsciousness, and headache, appropriate replacement therapies and cranial ultrasound scans must be done to decrease ICH-related morbidity and mortality.

A successful outcome of pregnancy in a patient with congenital antithrombin deficiency

OpenAIRE

Kovač Mirjana; Miković Željko; Rakičević Ljiljana; Srzentić Snežana; Mandić Vesna; Đorđević Valentina; Radojković Dragica

2011-01-01

Background. Presence of inherited thrombophilia is an additional risk factor for maternal thromboembolism and certain adverse pregnancy outcomes, including recurrent fetal loss, placental abruption, intrauterine growth restriction and earlyonset severe preeclampsia. Pregnant women with thrombophilia, especially those with antithrombin (AT) deficiency, are at high risk of both kinds of complications. Case report. We presented a pregnant women with congenital antithrombin deficiency in the firs...

Evaluation of insulin-like growth factor-1 and insulin like growth factor binding protein-3 in diagnosis of growth hormone deficiency in short-stature children

International Nuclear Information System (INIS)

Ali, A.; Hashim, R.; Khan, F.A.; Sattar, A.; Ijaz, A.; Manzoor, S.M.; Younas, M.

2009-01-01

Growth Hormone Deficiency (GHD) is conventionally diagnosed and confirmed by diminished peak Growth Hormone (GH) levels to provocative testing. Serum Insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) are under the influence of GH and reflect the spontaneous endogenous GH secretion. Owing to the absence of a circadian rhythm, it is possible to take individual measurements of IGF-1 and IGFBP-3 at any time of the day for evaluation of GH status instead of subjecting the individual to cumbersome provocative tests. Objectives of this study were to compare IGF-1 and IGFBP-3 assays with Exercise and L-Dopa stimulation tests in the diagnosis of growth hormone deficiency in short stature children using ITT as gold standard. Methods: This validation study was conducted at Department of Chemical Pathology and Endocrinology, AFIP, Rawalpindi, from November 2005 to October 2006. Fifty-two short stature children were included in the study. Basal samples for GH levels and simultaneous IGF-1 and IGFBP-3 measurements were obtained and afterwards all children were subjected to sequential exercise and LDopa stimulation tests. Insulin Tolerance Test (ITT) was performed one week later with all the necessary precautionary measures. On the basis of ITT results, children were divided into two groups, i.e., 31 growth hormone deficient and 21 Normal Variant Short Stature (NVSS). Results: The diagnostic value of exercise stimulation test remained highest with sensitivity 90.3%, specificity 76.0%, Positive Predictive Value (PPV) 84.84%, Negative Predictive Value (NPV) 84.2% and accuracy 84.6%. The conventional L-Dopa stimulation had sensitivity 96.7%, specificity 38.0%, PPV 69.7%, NPV 88.8 % and accuracy 73.0%. The serum IGF-1 and IGFBP-3 levels were positively correlated with post ITT peak GH levels (r= 0.527, r=0.464 respectively, both p<0.001). The diagnostic value of IGF-1 had sensitivity 83.87%, specificity 76.2%, PPV 83.87%, NPV 76.2% and

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).

[Vitamin B12 Deficiency in Type 2 Diabetes Mellitus].

Science.gov (United States)

Tavares Bello, Carlos; Capitão, Ricardo Miguel; Sequeira Duarte, João; Azinheira, Jorge; Vasconcelos, Carlos

2017-10-31

Type 2 diabetes mellitus is a common disease, affecting up to 13.1% of the Portuguese population. In addition to the known micro and macrovascular complications, drug side effects constitute a major concern, leading to changes in the treatment guidelines, which favor safety over efficacy. Metformin is the first-line pharmacological treatment for most patients with type 2 diabetes mellitus; however, it has been associated with vitamin B12 deficiency in up to 30% of treated patients. The authors describe the prevalence of vitamin B12 deficiency in a diabetic population and explore the possible underlying factors. Retrospective, observational study. Clinical and laboratory data of type 2 diabetes mellitus patients whose vitamin B12 status was evaluated in the last decade (2005 - 2016) were analyzed. Patients with known malabsorptive syndromes or having undergone bariatric surgery were excluded from the study. Statistical analysis of the data was done and the results were considered statistically significant at p values 2.2 years and 11 ± 10.4 years of type 2 diabetes mellitus duration. These patients had a high prevalence of complications: diabetic renal disease 47.7%, neuropathy 9.2%, retinopathy 14.9%, coronary artery disease 8.4%, cerebrovascular disease 10.9%, and peripheral arterial disease 5.5%. Vitamin B12 deficiency (21.4% of the population and this subgroup was older (68.4 vs 65.8 years, p = 0.006), had a longer type 2 diabetes mellitus duration (13.35 vs 10.36 years; p = 0.001), higher prevalence of retinopathy (20.9% vs 13.3%; p = 0.005) and thyroid dysfunction (34% vs 23.7%; p = 0.002). Vitamin B12 deficiency was also more frequent in patients treated with metformin (24.7% vs 15.8%; p = 0.017), antiplatelet agents (25.4% vs 16.2%, p 26.8% vs 18.2%; p = 0.001). After adjustment for possible confounders, the variables associated with B12 deficiency were: metformin, hypothyroidism, age and type 2 diabetes mellitus duration. Despite the retrospective design

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

Science.gov (United States)

McNamara, Robert K

2009-01-01

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

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Fire Safety Deficiencies

Data.gov (United States)

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

Vitamin D deficiency intensifies deterioration of risk factors, such as male sex and absence of vision, leading to increased postural body sway.

Science.gov (United States)

Krause, Matthias; Anschütz, Wilma; Vettorazzi, Eik; Breer, Stefan; Amling, Michael; Barvencik, Florian

2014-01-01

Due to inconsistent findings, the influence of vitamin D on postural body sway (PBS) is currently under debate. This study evaluated the impact of vitamin D on PBS with regards to different foot positions and eye opening states in community-dwelling older individuals. In a cross-sectional study, we assessed PBS in 342 older individuals (264 females [average age (± SD): 68.3 ± 9.0 years], 78 males [65.7 ± 9.6 years]). A detailed medical history and vitamin D level were obtained for each individual. Fall risk was evaluated using the New York-Presbyterian Fall Risk Assessment Tool (NY PFRA). PBS parameters (area, distance, velocity, frequency) were evaluated on a pressure plate with feet in closed stance (CS) or hip-width stance (HWS), open eyes and closed eyes. Statistical analysis included logarithmic mixed models for repeated measures with the MIXED model procedure to test the influence of vitamin D (categorized in 30 μg/l), foot position, eye opening state, age, sex and frequency of physical activity on PBS. Vitamin D was not an independent risk factor for falls experienced in the last 12 months. Nonetheless, PBS was higher in patients with vitamin D deficiency (risk factors for increased PBS like male sex and absence of vision are additionally compromised by vitamin D deficiency. Copyright © 2013 Elsevier B.V. All rights reserved.

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 ...

Potassium deficiency affects the carbon-nitrogen balance in cotton leaves.

Science.gov (United States)

Hu, Wei; Coomer, Taylor D; Loka, Dimitra A; Oosterhuis, Derrick M; Zhou, Zhiguo

2017-06-01

, which would limit sucrose biosynthesis and nitrate assimilation. This was another factor altering soluble sugar to free amino acid ratio and C/N ratio in the K-deficient leaves. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Thrombotic CV Stroke in a Young Male with Hyperhomocysteinemia and Protein S Deficiency: A Case Report

Directory of Open Access Journals (Sweden)

Nilima Shah

2014-12-01

Full Text Available Stroke in young poses a major health problem. Thrombophilic factors have been implicated in 4-8% of the young strokes worldwide. Hyperhomocysteinemia is an independent risk factor for atherosclerosis but there are few data regarding its role in acute arterial thrombosis without any previous lesion. Overall estimated incidence of deep vein thrombosis is 1 per 1000 persons with Protein S deficiency but very few studies suggest association between arterial thrombosis with Protein S deficiency. We present a case of 18 year old boy who presented to us with acute onset right sided hemiplegia and aphasia whose laboratory findings were suggestive of hyperhomocyseinemia and Protein S deficiency.

[Retrospective analysis of risk factors in 900 patients with ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome in Wuhan District].

Science.gov (United States)

Qiu, Xin; Wang, Kai-xin; Chen, Guo-hua

2011-11-01

To analyze the correlation between risk factors and ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome. Totally 900 patients of the two syndrome types were recruited. Risk factors correlated to ischemic cerebral stroke such as gender, age, time of onset, site of infarction, tongue proper, tongue fur, pulse picture, hypertension, diabetes, past stroke history, hyperlipidemia, hematocrit, smoking, drinking, genetic factor, blood type, complications were analyzed using Chi-square test and non-conditional Logistic regression analysis. Statistical significance existed between the two syndrome types in age (X2 = 8.2392, P = 0.0413), hyperlipidemia (X2 = 4.8386, P = 0.0278), tongue proper (X2 = 7.9470, P = 0.0048), and tongue fur (X2 = 4.3298, P = 0.0375). Statistical significance existed between the two syndrome types in hyperlipidemia, tongue proper, and tongue fur, and their OR value was 0.699 (P = 0.0282), 0.332 (P =0.0071), and 0.667 (P = 0.0382) respectively. The OR value of the past stroke history was 3.226 (P = 0.0314), that of complications 0.203 (P = 0.0705), and that of anterior circulation infarction 0.214 (P = 0.0098). Among different ages groups, the constituent ratio of qi deficiency blood stasis syndrome was obviously higher than that of wind-phlegm collateral obstruction syndrome. Besides, patients of qi deficiency blood stasis syndrome were liable to suffer from hyperlipidemia, anterior circulation infarction, and complications. The age, blood lipid levels, site of infarction, complications are closely correlated with Chinese syndrome types of ischemic cerebral stroke, which can provide objective indices for typing ischemic cerebral stroke.

Solubilization of immune complexes in complement factor deficient sera and the influence of temperature, ionic strength and divalent cations on the solubilization reaction

DEFF Research Database (Denmark)

Baatrup, Gunnar; Petersen, Ivan; Svehag, Svend-Erik

1984-01-01

The complement-mediated solubilization (CMS) of immune complexes (IC) and the initial kinetics (IKS) of this reaction in human sera depleted of or deficient in C2, C3, C8, factors B, P and I were investigated. Sera depleted of B or P and those lacking native C3 or factor I showed virtually no CMS......M. Chelation of Ca2+ in serum by Mg2+-ethylene glycol tetraacetic acid reduced the CMS capacity by up to 50% and the IKS was markedly retarded. Varying the Zn2+ or Mn2+ ion concentrations in serum influenced neither the IKS nor the CMS capacity....

Omega-3 deficiency impairs honey bee learning

Science.gov (United States)

Arien, Yael; Dag, Arnon; Zarchin, Shlomi; Masci, Tania

2015-01-01

Deficiency in essential omega-3 polyunsaturated fatty acids (PUFAs), particularly the long-chain form of docosahexaenoic acid (DHA), has been linked to health problems in mammals, including many mental disorders and reduced cognitive performance. Insects have very low long-chain PUFA concentrations, and the effect of omega-3 deficiency on cognition in insects has not been studied. We show a low omega-6:3 ratio of pollen collected by honey bee colonies in heterogenous landscapes and in many hand-collected pollens that we analyzed. We identified Eucalyptus as an important bee-forage plant particularly poor in omega-3 and high in the omega-6:3 ratio. We tested the effect of dietary omega-3 deficiency on olfactory and tactile associative learning of the economically highly valued honey bee. Bees fed either of two omega-3–poor diets, or Eucalyptus pollen, showed greatly reduced learning abilities in conditioned proboscis-extension assays compared with those fed omega-3–rich diets, or omega-3–rich pollen mixture. The effect on performance was not due to reduced sucrose sensitivity. Omega-3 deficiency also led to smaller hypopharyngeal glands. Bee brains contained high omega-3 concentrations, which were only slightly affected by diet, suggesting additional peripheral effects on learning. The shift from a low to high omega-6:3 ratio in the Western human diet is deemed a primary cause of many diseases and reduced mental health. A similar shift seems to be occurring in bee forage, possibly an important factor in colony declines. Our study shows the detrimental effect on cognitive performance of omega-3 deficiency in a nonmammal. PMID:26644556

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.

Modeling the influence of vitamin D deficiency on cigarette smoke-induced emphysema.

Directory of Open Access Journals (Sweden)

Mardi A. Crane-Godreau

2013-06-01

Full Text Available Chronic obstructive pulmonary disease (COPD is a major cause of morbidity and mortality worldwide. While the primary risk factor for COPD is cigarette smoke exposure, vitamin D deficiency has been epidemiologically implicated as a factor in the progressive development of COPD-associated emphysema. Because of difficulties inherent to studies involving multiple risk factors in the progression of COPD in humans, we developed a murine model in which to study the separate and combined effects of vitamin D deficiency and cigarette smoke exposure. During a 16 week period, mice were exposed to one of four conditions, control diet breathing room air (CD-NS, control diet with cigarette smoke exposure (CD-CSE, vitamin D deficient diet breathing room air (VDD-NS or vitamin D deficient diet with cigarette smoke exposure (VDD-CSE. At the end of the exposure period, the lungs were examined by a pathologist and separately by morphometric analysis. In parallel experiments, mice were anesthetized for pulmonary function testing followed by sacrifice and analysis. Emphysema (determined by an increase in alveolar mean linear intercept length was more severe in the VDD-CSE mice compared to control animals and animals exposed to VDD or CSE alone. The VDD-CSE and the CD-CSE mice had increased total lung capacity and increased static lung compliance. There was also a significant increase in the matrix metalloproteinase-9: tissue inhibitor of metalloproteinases-1 ratio in VDD-CSE mice compared with all controls. Alpha-1 antitrypsin expression was reduced in VDD-CSE mice as well. In summary, vitamin D deficiency, when combined with cigarette smoke exposure, seemed to accelerate the appearance of emphysemas, perhaps by virtue of an increased protease-antiprotease ratio in the combined VDD-CSE animals. These results support the value of our mouse model in the study of COPD.

Anemia, Iron Deficiency and Iodine Deficiency among Nepalese School Children.

Science.gov (United States)

Khatiwada, Saroj; Lamsal, Madhab; Gelal, Basanta; Gautam, Sharad; Nepal, Ashwini Kumar; Brodie, David; Baral, Nirmal

2016-07-01

To assess iodine and iron nutritional status among Nepalese school children. A cross-sectional, community based study was conducted in the two districts, Ilam (hilly region) and Udayapur (plain region) of eastern Nepal. A total of 759 school children aged 6-13 y from different schools within the study areas were randomly enrolled. A total of 759 urine samples and 316 blood samples were collected. Blood hemoglobin level, serum iron, total iron binding capacity and urinary iodine concentration was measured. Percentage of transferrin saturation was calculated using serum iron and total iron binding capacity values. The mean level of hemoglobin, serum iron, total iron binding capacity, transferrin saturation and median urinary iodine excretion were 12.29 ± 1.85 g/dl, 70.45 ± 34.46 μg/dl, 386.48 ± 62.48 μg/dl, 19.94 ± 12.07 % and 274.67 μg/L respectively. Anemia, iron deficiency and iodine deficiency (urinary iodine excretion iron deficient children. Iron deficiency and anemia are common in Nepalese children, whereas, iodine nutrition is more than adequate. Low urinary iodine excretion was common in iron deficiency and anemia.

Phenotypic and genotypic characterization of four factor VII deficiency patients from central China.

Science.gov (United States)

Liu, Hui; Wang, Hua-Fang; Cheng, Zhi-peng; Wang, Qing-yun; Hu, Bei; Zeng, Wei; Wu, Ying-ying; Guo, Tao; Tang, Liang; Hu, Yu

2015-06-01

Hereditary coagulation factor VII deficiency (FVIID) is a rare autosomal, recessive inherited hemorrhagic disorder related to a variety of mutations or polymorphisms throughout the factor VII (FVII) gene (F7). The aims of this study were to characterize the molecular defect of the F7 gene in four unrelated patients with FVIID and to find the genotype-phenotype correlation. All nine exons, exon-intron boundaries, and 5' and 3'-untranslated regions of the F7 gene were amplified by PCR and the purified PCR products were sequenced directly. Suspected mutations were confirmed by another PCR and sequencing of the opposite strand. Family studies were also performed. A total of five unique lesions were identified, including three missense mutations (c.384A>G, c.839A>C, c.1163T>G, predicting p.Tyr128Cys, p.Glu280Ala and p.Phe388Cys substitution, respectively) and two splice junction mutations (c.572-1G>A, c.681+1G>T), among which two (p.Glu280Ala, p.Phe388Cys) were novel. A previously reported mutation p.Tyr128Cys was seen in the homozygous state in two unrelated patients. The other two cases were both compound heterozygotes of a missense mutation and a splicing site mutation. Multiple sequence alignment using DNAMAN analysis showed that all the missense mutations were found in residues that highly conserved across species and vitamin K-dependent serine proteases. Online software Polyphen and SIFT were used to confirm the pathogenic of the missense mutation. p.Tyr128Cys seems to be a hotspot of the F7 gene in ethnic Han Chinese population.

Homens de letras e homens de leis ao serviço da monarquia portuguesa (séculos XII-XIII

Directory of Open Access Journals (Sweden)

Armando Norte

2014-06-01

Full Text Available Ao longo da primeira dinastia, os letrados ao serviço da Coroa portuguesa desempenharam um papel decisivo e cada vez mais importante na afirmação do poder real. Homens de leis e homens de letras serviram à casa real como oficiais, representaram os reis portugueses em atos políticos e diplomáticos e exerceram um grande leque de funções na esfera da administração central - políticas, jurídicas, médicas, económicas, administrativas. A presença desses elementos ao lado dos monarcas fez-se sentir desde a fundação do reino, logo desde o reinado de D. Afonso Henriques, coincidindo o corolário deste processo de recrutamento com a chegada de D. Afonso III ao trono, numa política continuada, de forma firme, por D. Dinis. O conjunto de eruditos recenseados junto dos reis portugueses da época fundacional constitui, nessa medida, um interessante estudo de caso para compreender, em parte, em que consistia um círculo áulico, à luz dos valores do século XII e XIII.

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 ...

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

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 ...

Iron-Deficiency Anemia

Medline Plus

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

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 ...

Iron-Deficiency Anemia

Medline Plus

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

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 . ...

Iron-Deficiency Anemia

Medline Plus

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

Estratégia anestesiológica para cesariana em paciente portadora de deficiência de fator XI: relato de caso Estrategia anestesiológica para cesárea en paciente portadora de discapacidad de Factor XI: relato de caso Anesthetic strategy for cesarean section in a patient with factor XI deficiency: case report

Directory of Open Access Journals (Sweden)

Norma Sueli P Módolo

2010-04-01

Full Text Available JUSTIFICATIVA E OBJETIVOS: A deficiência do fator XI é uma doença hematológica rara na população. A hemofilia C (deficiência do fator XI ocorre em ambos os sexos e normalmente não apresenta qualquer sintomatologia, podendo manifestar-se apenas como hemorragia pós-cirúrgica. É uma doença autossômica recessiva, homozigótica ou heterozigótica, e sua gravidade depende dos níveis de fator XI. O objetivo desse relato foi apresentar a estratégia anestésica em paciente portadora de hemofilia C. RELATO DO CASO: Paciente com 32 anos, gesta I/para 0, 39 semanas de gestação programada para cesariana eletiva. Paciente portadora de deficiência de fator XI. Exame clínico e laboratorial sem alterações. Conforme orientação do hematologista, no dia da cesárea a paciente usou prometazina 25 mg; hidrocortisona 500 mg, devido a reações transfusionais prévias, e plasma 10 mL-1.kg-1 num total de 700 mL. Após 2 horas foi submetida ao bloqueio subaracnóideo sob monitorização de rotina. Hidratação com RL 2000 mL. Procedimento anestésico-cirúrgico sem intercorrências. A paciente evoluiu no pós-operatório sem intercorrências, sendo que no 3º DPO fez uso de plasma fresco congelado (PFC 10.mL-1.kg-1 com o objetivo de evitar sangramento pós cirúrgico tardio. CONCLUSÕES: O objetivo do caso foi apresentar o protocolo anestésico para pacientes portadores de hemofilia C e alertar para a necessidade de investigação em caso de antecedente de sangramento pós-operatório, quando um estudo da coagulação deve ser realizado antes de qualquer procedimento invasivo e, se um TTPA prolongado for encontrado, torna-se imperativo pesquisar a deficiência desse fator.JUSTIFICATIVA Y OBJETIVOS: La discapacidad del factor XI es una enfermedad hematológica rara en la población. La hemofilia C (discapacidad del factor XI, ocurre en los dos sexos y normalmente no presenta ninguna sintomatología, y se puede manifestar apenas como hemorragia post

The story of iodine deficiency: An international challenge in nutrition

International Nuclear Information System (INIS)

Hetzel, B.S.

1989-01-01

Iodine deficiency is a risk factor for the growth and development of up to 800 million people living in iodine deficient environments throughout the world. The effects on growth and development, called the iodine deficiency disorders (IDD), comprise goiter, stillbirths and miscarriages, neonatal and juvenile thyroid deficiency, dwarfism, mental defects, deaf mutism, and spastic weakness and paralysis, as well as lesser degrees of loss of physical and mental function. All these effects are due to inadequate thyroid hormone production because iodine is an essential constituent of the thyroid hormone. In the West, IDD has been largely eliminated by the addition of iodine to the diet through iodized salt or through changes in food distribution and technology. IDD still persists in certain areas of Europe where these dietary changes have not occurred. In the Third World, IDD is a major problem in many countries with large populations, such as China, India, Indonesia, Nigeria, and Zaire. In these and other Third World countries, IDD is a significant barrier to social and economic progress which can be removed by correction of the deficiency. This book shows that elimination of iodine deficiency is feasible within the next decade, only requiring a modest financial and technical effort from the West. Part 1 reviews IDD in man and animals. Part 2 discusses the control of iodine deficiency disorders through iodine supplementation, and considers action at the national and international level. Part 3 presents a global review of the status of IDD control. There is a brief conclusion on the way forward to successful control programs

The story of iodine deficiency: An international challenge in nutrition

Energy Technology Data Exchange (ETDEWEB)

Hetzel, B.S.

1989-01-01

Iodine deficiency is a risk factor for the growth and development of up to 800 million people living in iodine deficient environments throughout the world. The effects on growth and development, called the iodine deficiency disorders (IDD), comprise goiter, stillbirths and miscarriages, neonatal and juvenile thyroid deficiency, dwarfism, mental defects, deaf mutism, and spastic weakness and paralysis, as well as lesser degrees of loss of physical and mental function. All these effects are due to inadequate thyroid hormone production because iodine is an essential constituent of the thyroid hormone. In the West, IDD has been largely eliminated by the addition of iodine to the diet through iodized salt or through changes in food distribution and technology. IDD still persists in certain areas of Europe where these dietary changes have not occurred. In the Third World, IDD is a major problem in many countries with large populations, such as China, India, Indonesia, Nigeria, and Zaire. In these and other Third World countries, IDD is a significant barrier to social and economic progress which can be removed by correction of the deficiency. This book shows that elimination of iodine deficiency is feasible within the next decade, only requiring a modest financial and technical effort from the West. Part 1 reviews IDD in man and animals. Part 2 discusses the control of iodine deficiency disorders through iodine supplementation, and considers action at the national and international level. Part 3 presents a global review of the status of IDD control. There is a brief conclusion on the way forward to successful control programs.

Iron-Deficiency Anemia

Medline Plus

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

Sports participation of individuals with major upper limb deficiency

NARCIS (Netherlands)

Bragaru, Mihai; Dekker, Rienk; Dijkstra, Pieter U.; Geertzen, Jan H. B.; van der Sluis, Corry K.

BACKGROUND: The aim of this study was to analyse sports participation of individuals with upper limb deficiency (ULD) and associated factors. METHODS: Individuals with ULD originating from the Netherlands were invited, via their attending physiatrist or prosthetist, to answer a digital or paper

Tool to manage Road Safety Deficiencies and risk of highway crashes

Energy Technology Data Exchange (ETDEWEB)

Lopez Maldonado, G.; Baena Ruiz, L.; Garach Morcillo, L.; Oña Lopez, J. de

2016-07-01

In order to facilitate the management of the results obtained in the project “Analysis of the relationship between Road Safety Deficiencies, crashes and hazardous sections” financed by Public Works Agency of the Regional Government of Andalusia (AOPJA) and led by the research group TRYSE from University of Granada, a safety management tool has been developed. This application allows safety managers to consult some factors affecting crashes on two-lane rural highways.The main aim of that project was to analyze the influence of some road deficiencies on crashes and hazardous sections in the Complementary Road Network of Andalusia. These deficiencies were defined in a checklist and were identified by a road inspection. Decision Trees (DTs), that are a data mining technique that allows the extraction of Decision Rules (DRs), were used. DRs revealed the relationship between road deficiencies and crashes.The application allows two different analyses. A specific analysis of the Complementary Road Network of Andalusia, in which, particular safety problems can be identified, and the location of roads with those problems can be obtained. A more general analysis in which some characteristics related to road safety can be selected in order to know the combination of factors contributing to traffic crashes. Safety problems are based on data from Complementary Road Network of Andalusia but results can be extrapolated to other rural highways in Spain. (Author)

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

Science.gov (United States)

Das, Undurti N

2013-10-01

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

[Vitamin deficiencies in breastfed children due to maternal dietary deficiency

NARCIS (Netherlands)

Kollee, L.A.A.

2006-01-01

Dietary deficiencies of vitamin B12 and vitamin D during pregnancy and lactation may result in health problems in exclusively breastfed infants. Vitamin-B12 deficiency in these infants results in irritability, anorexia and failure to thrive during the first 4-8 months of life. Severe and permanent

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

Thiamin deficiency on fetal brain development with and without prenatal alcohol exposure.

Science.gov (United States)

Kloss, Olena; Eskin, N A Michael; Suh, Miyoung

2018-04-01

Adequate thiamin levels are crucial for optimal health through maintenance of homeostasis and viability of metabolic enzymes, which require thiamine as a co-factor. Thiamin deficiency occurs during pregnancy when the dietary intake is inadequate or excessive alcohol is consumed. Thiamin deficiency leads to brain dysfunction because thiamin is involved in the synthesis of myelin and neurotransmitters (e.g., acetylcholine, γ-aminobutyric acid, glutamate), and its deficiency increases oxidative stress by decreasing the production of reducing agents. Thiamin deficiency also leads to neural membrane dysfunction, because thiamin is a structural component of mitochondrial and synaptosomal membranes. Similarly, in-utero exposure to alcohol leads to fetal brain dysfunction, resulting in negative effects such as fetal alcohol spectrum disorder (FASD). Thiamin deficiency and prenatal exposure to alcohol could act synergistically to produce negative effects on fetal development; however, this area of research is currently under-studied. This minireview summarizes the evidence for the potential role of thiamin deficiency in fetal brain development, with or without prenatal exposure to alcohol. Such evidence may influence the development of new nutritional strategies for preventing or mitigating the symptoms of FASD.

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

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 ...

Iron-Deficiency Anemia

Medline Plus

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

Iron-Deficiency Anemia

Medline Plus

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

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 ...

Thiamine deficiency activates hypoxia inducible factor-1α to facilitate pro-apoptotic responses in mouse primary astrocytes.

Directory of Open Access Journals (Sweden)

Kristy Zera

Full Text Available Thiamine is an essential enzyme cofactor required for proper metabolic function and maintenance of metabolism and energy production in the brain. In developed countries, thiamine deficiency (TD is most often manifested following chronic alcohol consumption leading to impaired mitochondrial function, oxidative stress, inflammation and excitotoxicity. These biochemical lesions result in apoptotic cell death in both neurons and astrocytes. Comparable histological injuries in patients with hypoxia/ischemia and TD have been described in the thalamus and mammillary bodies, suggesting a congruency between the cellular responses to these stresses. Consistent with hypoxia/ischemia, TD stabilizes and activates Hypoxia Inducible Factor-1α (HIF-1α under physiological oxygen levels. However, the role of TD-induced HIF-1α in neurological injury is currently unknown. Using Western blot analysis and RT-PCR, we have demonstrated that TD induces HIF-1α expression and activity in primary mouse astrocytes. We observed a time-dependent increase in mRNA and protein expression of the pro-apoptotic and pro-inflammatory HIF-1α target genes MCP1, BNIP3, Nix and Noxa during TD. We also observed apoptotic cell death in TD as demonstrated by PI/Annexin V staining, TUNEL assay, and Cell Death ELISA. Pharmacological inhibition of HIF-1α activity using YC1 and thiamine repletion both reduced expression of pro-apoptotic HIF-1α target genes and apoptotic cell death in TD. These results demonstrate that induction of HIF-1α mediated transcriptional up-regulation of pro-apoptotic/inflammatory signaling contributes to astrocyte cell death during thiamine deficiency.

Maternal Vitamin D Deficiency and Fetal Programming - Lessons Learned from Humans and Mice

Directory of Open Access Journals (Sweden)

Christoph Reichetzeder

2014-09-01

Full Text Available Background/Aims: Cardiovascular disease partially originates from poor environmental and nutritional conditions in early life. Lack of micronutrients like 25 hydroxy vitamin D3 (25OHD during pregnancy may be an important treatable causal factor. The present study explored the effect of maternal 25OHD deficiency on the offspring. Methods: We performed a prospective observational study analyzing the association of maternal 25OHD deficiency during pregnancy with birth outcomes considering confounding. To show that vitamin D deficiency may be causally involved in the observed associations, mice were set on either 25OHD sufficient or insufficient diets before and during pregnancy. Growth, glucose tolerance and mortality was analyzed in the F1 generation. Results: The clinical study showed that severe 25OHD deficiency was associated with low birth weight and low gestational age. ANCOVA models indicated that established confounding factors such as offspring sex, smoking during pregnancy and maternal BMI did not influence the impact of 25OHD on birth weight. However, there was a significant interaction between 25OHD and gestational age. Maternal 25OHD deficiency was also independently associated with low APGAR scores 5 minutes postpartum. The offspring of 25OHD deficient mice grew slower after birth, had an impaired glucose tolerance shortly after birth and an increased mortality during follow-up. Conclusions: Our study demonstrates an association between maternal 25OHD and offspring birth weight. The effect of 25OHD on birth weight seems to be mediated by vitamin D controlling gestational age. Results from an animal experiment suggest that gestational 25OHD insufficiency is causally linked to adverse pregnancy outcomes. Since birth weight and prematurity are associated with an adverse cardiovascular outcome in later life, this study emphasizes the need for novel monitoring and treatment guidelines of vitamin D deficiency during pregnancy.

Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII.

Science.gov (United States)

Suzuki, Keijiro; Sugawara, Takeshi; Ishida, Yoji; Suwabe, Akira

2013-02-01

Congenital coagulation factor VII (FVII) deficiency is a rare coagulation disease. We investigated the molecular mechanisms of this FVII deficiency in a patient with compound heterozygous mutations. A 22-year-old Japanese female was diagnosed with asymptomatic FVII deficiency. The FVII activity and antigen were greatly reduced (activity, 13.0%; antigen, 10.8%). We analyzed the F7 gene of this patient and characterized mutant FVII proteins using in vitro expression studies. Sequence analysis revealed that the patient was compound heterozygous with a point mutation (p.Leu13Pro) in the central hydrophobic core of the signal peptides and a novel non-sense mutation (p.Tyr294*) in the catalytic domain. Expression studies revealed that mutant FVII with p.Leu13Pro (FVII13P) showed less accumulation in the cells (17.5%) and less secretion into the medium (64.8%) than wild type showed. Truncated FVII resulting from p.Tyr294* (FVII294X) was also decreased in the cells (32.0%), but was not secreted into the medium. Pulse-chase experiments revealed that both mutants were extensively degraded intracellularly compared to wild type. The majority of FVII13P cannot translocate into endoplasmic reticulum (ER). However, a small amount of FVII13P was processed normally with post-translational modifications and was secreted into the medium. The fact that FVII294X was observed only in ER suggests that it is retained in ER. Proteasome apparently plays a central role in these degradations. These findings demonstrate that both mutant FVIIs impaired secretion through ineffective translocation to and retention in ER with extensive intracellular degradation, resulting in an insufficient phenotype. Copyright © 2012 Elsevier Ltd. All rights reserved.

ASC deficiency suppresses proliferation and prevents medulloblastoma incidence.

Science.gov (United States)

Knight, E R W; Patel, E Y; Flowers, C A; Crowther, A J; Ting, J P; Miller, C R; Gershon, T R; Deshmukh, M

2015-01-15

Apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) is silenced by promoter methylation in many types of tumors, yet ASC's role in most cancers remains unknown. Here, we show that ASC is highly expressed in a model of medulloblastoma, the most common malignant pediatric brain cancer; ASC is also expressed in human medulloblastomas. Importantly, while ASC deficiency did not affect normal cerebellar development, ASC knockout mice on the Smoothened (ND2:SmoA1) transgenic model of medulloblastoma exhibited a profound reduction in medulloblastoma incidence and a delayed tumor onset. A similar decrease in tumorigenesis with ASC deficiency was also seen in the hGFAP-Cre:SmoM2 mouse model of medulloblastoma. Interestingly, hyperproliferation of the external granule layer (EGL) was comparable at P20 in both wild-type and ASC-deficient SmoA1 mice. However, while the apoptosis and differentiation markers remained unchanged at this age, proliferation makers were decreased, and the EGL was reduced in thickness and area by P60. This reduction in proliferation with ASC deficiency was also seen in isolated SmoA1 cerebellar granule precursor cells in vitro, indicating that the effect of ASC deletion on proliferation was cell autonomous. Interestingly, ASC-deficient SmoA1 cerebella exhibited disrupted expression of genes in the transforming growth factor-β pathway and increased level of nuclear Smad3. Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.

Association of Benign Paroxysmal Positional Vertigo with Osteoporosis and Vitamin D Deficiency: A Case Controlled Study.

Science.gov (United States)

Karataş, Abdullah; Acar Yüceant, Gülşah; Yüce, Turgut; Hacı, Cemal; Cebi, Işıl Taylan; Salviz, Mehti

2017-08-01

Benign paroxysmal positional vertigo (BPPV) is a common type of vertigo caused by the peripheral vestibular system. The majority of cases are accepted as idiopathic. Calcium metabolism also plays a primary role in the synthesis/absorption of otoconia made of calcium carbonate and thus might be an etiological factor in the onset of BPPV. In this study, we aimed to investigate the role of osteoporosis and vitamin D in the etiology of BPPV by comparing BPPV patients with hospital-based controls. This is a case-control study comparing the prevalence of osteoporosis and vitamin D deficiency in 78 BPPV patients and 78 hospital-based controls. The mean T-scores and serum vitamin D levels were compared. The risk factors of osteoporosis, physical activity, diabetes mellitus, body mass index, and blood pressure were all compared between the groups. To avoid selection bias, the groups were stratified as subgroups according to age, sex, and menopausal status. In this study, the rates of osteoporosis and vitamin D deficiency detected in BPPV patients were reasonably high. But there was no significant difference in mean T-scores and vitamin D levels, osteoporosis, and vitamin D deficiency prevalence between the BPPV group and controls. The prevalence of osteoporosis and vitamin D deficiency is reasonably high in the general population. Unlike the general tendencies in the literature, our study suggests that osteoporosis and vitamin D deficiency are not risk factors for BPPV; we conclude that the coexistence of BPPV with osteoporosis and vitamin D deficiency is coincidental.

Iron-Deficiency Anemia

Medline Plus

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

Selenium deficiency aggravates T-2 toxin-induced injury of primary neonatal rat cardiomyocytes through ER stress.

Science.gov (United States)

Xu, Jing; Pan, Shengchi; Gan, Fang; Hao, Shu; Liu, Dandan; Xu, Haibin; Huang, Kehe

2018-04-01

Keshan disease is a potentially fatal cardiomyopathy in humans. Selenium deficiency, T-2 toxin, and myocarditis virus are thought to be the major factors contributing to Keshan disease. But the relationship among these three factors is poorly described. This study aims to explore whether selenium deficiency aggravates T-2 toxin-induced cardiomyocyte injury and its underlying mechanism. Cardiomyocytes were isolated from neonatal rat and cultured at the physiological (2.0 μM) or lower concentrations of selenium with different concentrations of T-2 toxin. Our results showed that selenium deficiencies aggravated T-2 toxin-induced cardiomyocyte injury in a concentration-dependent manner as demonstrated by MTT bioassay, LDH activity, reactive oxygen species levels and caspase 3 protein expressions. T-2 toxin treatment significantly increased mRNA expressions for stress proteins GRP78 and CHOP in cardiomyocytes compared with the control. Selenium deficiencies further promoted GRP78, CHOP and p-eIF2α expressions. Knockdown of CHOP by the specific small interfering RNA eliminated the effect of selenium deficiencies on T-2 toxin-induced injury. It could be concluded that selenium deficiency aggravates T-2 toxin-induced cardiomyocyte injury through initiating more aggressive endoplasmic reticulum stress. Copyright © 2018 Elsevier B.V. All rights reserved.

Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Directory of Open Access Journals (Sweden)

Mouna Feki Mnif

2012-01-01

Full Text Available Background: In congenital adrenal hyperplasia (CAH, long-term glucocorticoid treatment coupled with increased androgens may lead to undesirable metabolic effects. The aim of our report was to determine the prevalence of metabolic abnormalities and cardiovascular risk factors in a population of adult patients with CAH due to 21 hydroxylase deficiency. Materials and Methods: Twenty-six patients (11 males and 15 females, mean age ± SD=27.4±8.2 years were recruited. Anthropometry, body composition, metabolic parameters and cardiovascular risk factors were studied. Results: Obesity (overweight included was noted in 16 patients (61.5%, with android distribution in all cases. Bioelectrical impedance showed increased body fat mass in 12 patients (46.1%. Lipid profile alterations and carbohydrate metabolism disorders were detected in seven (26.9% and five (19.2% patients respectively. Moderate hepatic cytolysis, associated with hepatic steatosis, was found in one patient. Seven patients (27% had insulin resistance. Ambulatory blood pressure monitoring showed abnormalities in six patients (23%. Increased carotid intima media thickness was found in 14 patients (53.8%. Conclusion: Adult CAH patients tend to have altered metabolic parameters and a higher prevalence of cardiovascular risk factors. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.

BRCA1 deficiency increases the sensitivity of ovarian cancer cells to auranofin

International Nuclear Information System (INIS)

Oommen, Deepu; Yiannakis, Dennis; Jha, Awadhesh N.

2016-01-01

Highlights: • BRCA1 deficient cancer cells exhibit increased DNA damage upon auranofin treatment. • Auranofin induces apoptosis in BRCA1 deficient cancer cells despite the activation of Nrf2. • Antioxidant protects BRCA1 deficient cancer cells from auranofin. - Abstract: Auranofin, a thioredoxin reductase inhibitor and an anti-rheumatic drug is currently undergoing phase 2 clinical studies for repurposing to treat recurrent epithelial ovarian cancer. Previous studies have established that auranofin exerts its cytotoxic activity by increasing the production of reactive oxygen species (ROS). Breast cancer 1, early onset (BRCA1) is a DNA repair protein whose functional status is critical in the prognosis of ovarian cancer. Apart from its key role in DNA repair, BRCA1 is also known to modulate cellular redox homeostasis by regulating the stability of anti-oxidant transcription factor, nuclear factor erythroid 2—related factor 2 (Nrf2) via direct protein–protein interaction. However, it is currently unknown whether BRCA1 modulates the sensitivity of ovarian cancer cells to auranofin. Here we report that BRCA1-depleted cells exhibited increased DNA double strand breaks (DSBs) and decreased clonogenic cell survival upon auranofin treatment. Interestingly, auranofin induced the expression of Nrf2 in BRCA1-depleted cells suggesting its regulation independent of BRCA1. Furthermore, anti-oxidant agent, N-acetyl cysteine (NAC) protected BRCA1-depleted cells from DNA damage and apoptosis induced by auranofin. Our study suggests that accumulated lethal DSBs resulting from the oxidative damage render BRCA1 deficient cells more sensitive to auranofin despite the activation of Nrf2.

BRCA1 deficiency increases the sensitivity of ovarian cancer cells to auranofin

Energy Technology Data Exchange (ETDEWEB)

Oommen, Deepu [School of Biological Sciences, Plymouth University, Plymouth PL4 8AA (United Kingdom); Yiannakis, Dennis [Plymouth Oncology Centre, Derriford Hospital, Plymouth Hospitals NHS Trust, Plymouth PL6 8DH (United Kingdom); Jha, Awadhesh N., E-mail: a.jha@plymouth.ac.uk [School of Biological Sciences, Plymouth University, Plymouth PL4 8AA (United Kingdom)

2016-02-15

Highlights: • BRCA1 deficient cancer cells exhibit increased DNA damage upon auranofin treatment. • Auranofin induces apoptosis in BRCA1 deficient cancer cells despite the activation of Nrf2. • Antioxidant protects BRCA1 deficient cancer cells from auranofin. - Abstract: Auranofin, a thioredoxin reductase inhibitor and an anti-rheumatic drug is currently undergoing phase 2 clinical studies for repurposing to treat recurrent epithelial ovarian cancer. Previous studies have established that auranofin exerts its cytotoxic activity by increasing the production of reactive oxygen species (ROS). Breast cancer 1, early onset (BRCA1) is a DNA repair protein whose functional status is critical in the prognosis of ovarian cancer. Apart from its key role in DNA repair, BRCA1 is also known to modulate cellular redox homeostasis by regulating the stability of anti-oxidant transcription factor, nuclear factor erythroid 2—related factor 2 (Nrf2) via direct protein–protein interaction. However, it is currently unknown whether BRCA1 modulates the sensitivity of ovarian cancer cells to auranofin. Here we report that BRCA1-depleted cells exhibited increased DNA double strand breaks (DSBs) and decreased clonogenic cell survival upon auranofin treatment. Interestingly, auranofin induced the expression of Nrf2 in BRCA1-depleted cells suggesting its regulation independent of BRCA1. Furthermore, anti-oxidant agent, N-acetyl cysteine (NAC) protected BRCA1-depleted cells from DNA damage and apoptosis induced by auranofin. Our study suggests that accumulated lethal DSBs resulting from the oxidative damage render BRCA1 deficient cells more sensitive to auranofin despite the activation of Nrf2.

Prevalência e fatores associados à deficiência de ferro em lactentes atendidos em um centro de saúde-escola em Belém, Pará, Brasil Prevalence and factors associated with iron deficiency in infants treated at a primary care center in Belém, Pará, Brazil

Directory of Open Access Journals (Sweden)

Márcia Bitar Portella Neves

2005-12-01

Full Text Available Determinar a prevalência de deficiência de ferro e fatores associados em lactentes. Neste estudo transversal, foram estudados 365 lactentes atendidos em um centro de saúde-escola, em Belém, Pará, Brasil. Anemia ferropriva (hemoglobina 11g/dl e ferritina 11g/dl e ferritina > 12µg/l, em 18,1%. Em 12,5% dos lactentes, não incluídos na avaliação dos fatores associados com a deficiência de ferro, encontraram-se hemoglobina 12µg/l. Os resultados do modelo de regressão logística mostraram associação entre deficiência de ferro (ferritina The objective was to verify the occurrence of iron deficiency and associated factors in infants. This cross-sectional study included 365 infants (defined here as 6-24 months of age treated at a primary care center in Belém, Pará, Brazil. Iron-deficiency anemia (hemoglobin < 11g/dl and ferritin < 12µg/l was diagnosed in 55.1% of the sample, depletion of body iron reserves (hemoglobin < 11g/dl and ferritin < 12µg/l in 15.3%, and iron sufficiency (hemoglobin < 11g/dl and ferritin < 12µg/l in 18.1%. The results of the logistic regression model showed associations between iron deficiency (ferritin < 12µg/l and: 6-12 month age group, OR (odds ratio = 3.67 and 95% CI: 1.93-7.04; non-utilization of iron-fortified formula as the first milk used after interrupting breastfeeding, OR = 1.93 and 95%CI: 1.04-3.60; and per capita income ¾ 1 minimum wage, OR = 2.69 and 95%CI: 1.30-5.59. The occurrence of iron deficiency was high, showing the need to adopt effective measures to prevent this important public health problem.

Iron-Deficiency Anemia

Medline Plus

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

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 ...

Fibroblast Growth Factor 21 Deficiency Attenuates Experimental Colitis-Induced Adipose Tissue Lipolysis

Directory of Open Access Journals (Sweden)

Liming Liu

2017-01-01

Full Text Available Aims. Nutrient deficiencies are common in patients with inflammatory bowel disease (IBD. Adipose tissue plays a critical role in regulating energy balance. Fibroblast growth factor 21 (FGF21 is an important endocrine metabolic regulator with emerging beneficial roles in lipid homeostasis. We investigated the impact of FGF21 in experimental colitis-induced epididymal white adipose tissue (eWAT lipolysis. Methods. Mice were given 2.5% dextran sulfate sodium (DSS ad libitum for 7 days to induce colitis. The role of FGF21 was investigated using antibody neutralization or knockout (KO mice. Lipolysis index and adipose lipolytic enzymes were determined. In addition, 3T3-L1 cells were pretreated with IL-6, followed by recombinant human FGF21 (rhFGF21 treatment; lipolysis was assessed. Results. DSS markedly decreased eWAT/body weight ratio and increased serum concentrations of free fatty acid (FFA and glycerol, indicating increased adipose tissue lipolysis. eWAT intracellular lipolytic enzyme expression/activation was significantly increased. These alterations were significantly attenuated in FGF21 KO mice and by circulating FGF21 neutralization. Moreover, DSS treatment markedly increased serum IL-6 and FGF21 levels. IL-6 pretreatment was necessary for the stimulatory effect of FGF21 on adipose lipolysis in 3T3-L1 cells. Conclusions. Our results demonstrate that experimental colitis induces eWAT lipolysis via an IL-6/FGF21-mediated signaling pathway.

Systemic and intestinal levels of factor XIII-A

DEFF Research Database (Denmark)

Søndergaard, Christoffer; Kvist, Peter Helding; Seidelin, Jakob Benedict

2016-01-01

the loss of both FXIII antigen and activity during active disease. CONCLUSIONS: Intestinal inflammation in UC induces loss of M2 macrophages with subsequent loss of FXIII-A synthesis. The loss of cellular FXIII-A may impact migration and phagocytosis, and hence limit pathogen eradication in UC....

Identifying organizational deficiencies through root-cause analysis

International Nuclear Information System (INIS)

Tuli, R.W.; Apostolakis, G.E.

1996-01-01

All nuclear power plants incorporate root-cause analysis as an instrument to help identify and isolate key factors judged to be of significance following an incident or accident. Identifying the principal deficiencies can become very difficult when the event involves not only human and machine interaction, but possibly the underlying safety and quality culture of the organization. The current state of root-cause analysis is to conclude the investigation after identifying human and/or hardware failures. In this work, root-cause analysis is taken one step further by examining plant work processes and organizational factors. This extension is considered significant to the success of the analysis, especially when management deficiency is believed to contribute to the incident. The results of root-cause analysis can be most effectively implemented if the organization, as a whole, wishes to improve the overall operation of the plant by preventing similar incidents from occurring again. The study adds to the existing root-cause analysis the ability to localize the causes of undesirable events and to focus on those problems hidden deeply within the work processes that are routinely followed in the operation and maintenance of the facility

Increased volume of distribution for recombinant activated factor VII and longer plasma-derived factor VII half-life may explain their long lasting prophylactic effect

NARCIS (Netherlands)

Mathijssen, N.C.J.; Masereeuw, R.; Holme, P.A.; Kraaij, M.G.J. van; Laros, B.A.P.; Peyvandi, F.; Heerde, W.L. van

2013-01-01

INTRODUCTION: Prophylaxis with plasma-derived or recombinant activated factor VII is beneficial in severe factor VII deficiency. To understand why prophylactic treatment with both products is efficacious, we conducted a pharmacokinetic study. MATERIALS AND METHODS: Ten factor VII deficient patients

Alometría y dimorfismo sexual del fémur de Homo sapiens y Homo neanderthalensis en un contexto evolutivo

OpenAIRE

Anaya García, Noelia; Rosas, Antonio; Bastir, Markus; Estalrrich, Almudena; García-Tabernero, Antonio; Huguet, Rosa; Rasilla, Marco de la; Pastor, Francisco

2015-01-01

Comunicación presentada en el XIII Encuentro en Jóvenes Investigadores en Paleontología (XIII EJIP) - XIII Meeting of Early-Stage Researchers in Paleontology (XIII EJIP): Cercedilla, 15 - 18 de Abril de 2015

A new window to an old world: reconstructing the Middle Eocene of Messel for Hessisches Landesmuseum Darmstadt

OpenAIRE

Sanisidro, Óscar; Micklich, Norbert; Sandrock, Oliver

2015-01-01

Comunicación presentada en el XIII Encuentro en Jóvenes Investigadores en Paleontología (XIII EJIP) - XIII Meeting of Early-Stage Researchers in Paleontology (XIII EJIP): Cercedilla, 15 - 18 de Abril de 2015

Challenges in the management of osteoporosis and vitamin D deficiency in HIV infection.

Science.gov (United States)

Brown, Todd T

2013-01-01

Until 2013, the National Osteoporosis Foundation guidelines did not include HIV infection and highly active antiretroviral therapy as osteoporosis risk factors that should trigger dual-energy x-ray absorptiometry (DEXA) screening for low bone mineral density (BMD) in older adults, but numerous data indicate that individuals with HIV infection are at early and increased risk for osteoporosis and fracture. For this reason, experts support the use of DEXA screening for HIV-infected postmenopausal women and men older than 50 years. Factors contributing to increased risk of low BMD in individuals with HIV infection include inflammation, effects of antiretroviral therapy, and numerous patient risk factors, including vitamin D deficiency. Workup for low BMD should include assessment for fracture risk and secondary causes of low BMD, including vitamin D deficiency, hyperparathyroidism, subclinical hyperthyroidism, hypogonadism, and phosphate wasting. Bisphosphonates are the preferred treatment to prevent fracture in low BMD but are not appropriate for treating osteomalacia, which is characterized by vitamin D deficiency and phosphate wasting. This article summarizes a presentation by Todd T. Brown, MD, PhD, at the IAS-USA continuing education program held in Atlanta, Georgia, in April 2013.

Alternative pathways of thromboplastin-dependent activation of human factor X in plasma