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Sample records for disease type 4c

  1. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

    Science.gov (United States)

    Ichikawa, Kazushi; Numasawa, Keita; Takeshita, Saoko; Hashiguchi, Akihiro; Takashima, Hiroshi

    2016-11-01

    Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3 m/s in the tibial nerve to 48.2 m/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3 m/s in the sural nerve to 52.8 m/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C>T and c.2775G>A, in SH3TC2. The patient was diagnosed as having CMT4C with novel mutations, making this the first documented Japanese pediatric case. © 2016 Japan Pediatric Society.

  2. Chemical template-assisted synthesis of monodisperse rattle-type Fe3O4@C hollow microspheres as drug carrier.

    Science.gov (United States)

    Cheng, Lin; Ruan, Weimin; Zou, Bingfang; Liu, Yuanyuan; Wang, Yongqiang

    2017-08-01

    A chemical template strategy was put forward to synthesize monodisperse rattle-type magnetic carbon (Fe 3 O 4 @C) hollow microspheres. During the synthesis procedure, monodisperse Fe 2 O 3 microspheres were used as chemical template, which released Fe 3+ ions in acidic solution and initiated the in-situ polymerization of pyrrole into polypyrrole (PPy) shell. With the continual acidic etching of Fe 2 O 3 microspheres, rattle-type Fe 2 O 3 @PPy microspheres were generated with the cavity appearing between the PPy shell and left Fe 2 O 3 core, which were then transformed into Fe 3 O 4 @C hollow microspheres through calcination in nitrogen atmosphere. Compared with traditional physical template, the shell and cavity of rattle-type hollow microspheres were generated in one step using the chemical template method, which obviously saved the complex procedures including the coating and removal of middle shells. The experimental results exhibited that the rattle-type Fe 3 O 4 @C hollow microspheres with different parameters could be regulated through controlled synthesis of the intermediate Fe 2 O 3 @PPy product. Moreover, when the rattle-type Fe 3 O 4 @C hollow microspheres were investigated as drug carrier, they manifested sustained-release behaviour of doxorubicin, justifying their promising applications as carriers in drug delivery. The aim of the present study was first to synthesize rattle-type Fe 3 O 4 @C hollow microspheres through a simple synthesis method as a drug carrier. Here a chemical template synthesis of rattle-type hollow microspheres was developed, which saved the complex procedures including the coating and removal of middle shells in traditional physical template. Second, all the influence factors in the reaction processes were systematically investigated to obtain rattle-type Fe 3 O 4 @C hollow microspheres with controlled parameters. Third, the rattle-type Fe 3 O 4 @C hollow microspheres were studied as drug carriers and the influences of their

  3. Microstructure and electrical properties of slug-type resistors based on B4C and TiC - ESCA - XPS and impedance spectroscopy investigations

    International Nuclear Information System (INIS)

    Klimiec, E.; Zaraska, W.; Stobiecki, T.; Bak, W.; Starzyk, F.

    2000-01-01

    The microstructure and electrical properties of slug-type resistors based on B 4 C and TiC were investigated. From XPS measurements was deducted that Ti in TiO 2 is in intermediate oxidation number between Ti +4 and Ti +3 . The impedance of both type of resistors is independent on frequency in the range from 10 3 to 10 4 Hz, only very subtle differences above 10 4 Hz are observed. The metallic type conductivity in TiC and semiconducting in B 4 C was established. (author)

  4. 4C.03: SHORT-TERM HEART RATE VARIABILITY AND COGNITIVE FUNCTION IN OLDER SUBJECTS AT RISK OF CARDIOVASCULAR DISEASE.

    Science.gov (United States)

    Mahinrad, S; Van Heemst, D; Macfarlane, P W; Stott, D J; Jukema, J W; De Craen, A J M; Sabayan, B

    2015-06-01

    To test the cross-sectional and longitudinal association of heart rate variability measured from 10-second electrocardiogram recordings with cognitive function in older subjects at high risk of cardiovascular disease. We studied 3,583 men and women, mean age 75.0 years, who were enrolled in PROSPER (PROspective Study of Pravastatin in the Elderly at Risk) study. From baseline 10-second electrocardiograms the standard deviation of normal-to-normal RR intervals was calculated as the index of heart rate variability. Four domains of cognitive function testing reaction time, processing speed and immediate and delayed memory were assessed at baseline and repeated during a mean follow-up of 3.2 years. Using analyses of covariance, we calculated the adjusted mean values of baseline and annual changes of cognitive scores in thirds of heart rate variability. Participants with lower heart rate variability had worse cognitive function at baseline including reaction time, processing speed and immediate and delayed memory (all p-values heart rate variability had a steeper cognitive decline in reaction time (mean annual change of: 1.49 seconds in the lowest tertile, 0.84 seconds in the middle tertile and 1.06 seconds in the highest tertile, p-value = 0.05) and processing speed (mean annual change of: -0.51 digits coded in the lowest tertile, -0.45 digits coded in the middle tertile and -0.35 digits coded in the highest tertile, p-value = 0.009). There was no significant difference in annual changes of immediate and delayed memory between heart rate variability groups. All these associations remained unchanged after adjustment for medications, cardiovascular risk factors and co-morbidities. The present study indicates that lower heart rate variability measured from 10-second electrocardiogram recording is associated with worse executive function at baseline as well as future decline in executive function independent of cardiovascular risk factors and co-morbidities.

  5. Pneumococcal Disease: Types of Infection

    Science.gov (United States)

    ... World Health Organization National Foundation for Infectious Diseases Sepsis Types of Infection Recommend on Facebook Tweet Share Compartir Streptococcus pneumoniae bacteria, or pneumococcus, can cause many types of illnesses. Some of these illnesses ...

  6. Type V glycogen storage disease

    Science.gov (United States)

    Type V glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break down glycogen. ... can provide more information and resources: Association for ... Disease -- www.agsdus.org National Organization for Rare Disease ...

  7. Preparation of Fe(3)O(4)@C@CNC multifunctional magnetic core/shell nanoparticles and their application in a signal-type flow-injection photoluminescence immunosensor.

    Science.gov (United States)

    Chu, Chengchao; Li, Meng; Li, Long; Ge, Shenguang; Ge, Lei; Yu, Jinghua; Yan, Mei; Song, Xianrang

    2013-11-01

    We describe here the preparation of carbon-coated Fe3O4 magnetic nanoparticles that were further fabricated into multifunctional core/shell nanoparticles (Fe3O4@C@CNCs) through a layer-by-layer self-assembly process of carbon nanocrystals (CNCs). The nanoparticles were applied in a photoluminescence (PL) immunosensor to detect the carcinoembryonic antigen (CEA), and CEA primary antibody was immobilized onto the surface of the nanoparticles. In addition, CEA secondary antibody and glucose oxidase were covalently bonded to silica nanoparticles. After stepwise immunoreactions, the immunoreagent was injected into the PL cell using a flow-injection PL system. When glucose was injected, hydrogen peroxide was obtained because of glucose oxidase catalysis and quenched the PL of the Fe3O4@C@CNC nanoparticles. The here proposed PL immunosensor allowed us to determine CEA concentrations in the 0.005–50 ng·mL-1 concentration range, with a detection limit of 1.8 pg·mL-1.

  8. Comparison of aggregation behaviors between ionic liquid-type imidazolium gemini surfactant [C12-4-C12im]Br2 and its monomer [C12mim]Br on silicon wafer.

    Science.gov (United States)

    Ao, Mingqi; Xu, Guiying; Pang, Jinyu; Zhao, Taotao

    2009-09-01

    The aggregation of ionic liquid-type imidazolium gemini surfactant [C(12)-4-C(12)im]Br(2) on silicon wafer, which is compared with its monomer [C(12)mim]Br, have been studied. AFM morphology images and contact angle measurements suggest that the aggregations of [C(12)-4-C(12)im]Br(2) and [C(12)mim]Br on silicon wafer follow different mechanisms. Below the critical surface aggregation concentrations (CSAC), both surfactant molecules are adsorbed with their hydrophobic tails facing the air. But above the CSAC, [C(12)-4-C(12)im]Br(2) molecules finally form a bilayer structure with hydrophilic head groups facing the air, whereas [C(12)mim]Br molecules form a multilayer structure, and with increasing its concentration, the layer numbers increase with the hydrophobic chains and hydrophilic head groups facing the air by turns. Besides, the watery wettability of [C(12)-4-C(12)im]Br(2)-treated silica surface is lower than that of [C(12)mim]Br at the concentration of 5.0 cmc, and the infrared spectroscopy suggests that the poorer watery wettability of [C(12)-4-C(12)im]Br(2) may be relative to the less-ordered packing of methylene chains inside the aggregate. These different aggregation behaviors for the two surfactants ascribe to the different molecular structures and electrostatic interactions. This work would have certain theoretical guidance meaning on the modification of solid surface.

  9. Type I Glycogen Storage Disease

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    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Glycogen Storage Disease Type ...

  10. Glycogen Storage Disease Type IV

    DEFF Research Database (Denmark)

    Bendroth-Asmussen, Lisa; Aksglaede, Lise; Gernow, Anne B

    2016-01-01

    molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made......A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional...... on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies....

  11. Early Effects of Renal Replacement Therapy on Cardiovascular Comorbidity in Children With End-Stage Kidney Disease: Findings From the 4C-T Study.

    Science.gov (United States)

    Schmidt, Bernhard M W; Sugianto, Rizky Indrameikha; Thurn, Daniela; Azukaitis, Karolis; Bayazit, Aysun K; Canpolat, Nur; Eroglu, Ayse Guler; Caliskan, Salim; Doyon, Anke; Duzova, Ali; Karagoz, Tevfik; Anarat, Ali; Deveci, Murat; Mir, Sevgi; Ranchin, Bruno; Shroff, Rukshana; Baskin, Esra; Litwin, Mieczyslaw; Özcakar, Z Birsin; Büscher, Rainer; Soylemezoglu, Oguz; Dusek, Jiri; Kemper, Markus J; Matteucci, Maria C; Habbig, Sandra; Laube, Guido; Wühl, Elke; Querfeld, Uwe; Sander, Anja; Schaefer, Franz; Melk, Anette

    2018-03-01

    The early impact of renal transplantation on subclinical cardiovascular measures in pediatric patients has not been widely investigated. This analysis is performed for pediatric patients participating in the prospective cardiovascular comorbidity in children with chronic kidney disease study and focuses on the early effects of renal replacement therapy (RRT) modality on cardiovascular comorbidity in patients receiving a preemptive transplant or started on dialysis. We compared measures indicating subclinical cardiovascular organ damage (aortal pulse wave velocity, carotid intima media thickness, left ventricular mass index) and evaluated cardiovascular risk factors in 166 pediatric patients before and 6 to 18 months after start of RRT (n = 76 transplantation, n = 90 dialysis). RRT modality had a significant impact on the change in arterial structure and function: compared to dialysis treatment, transplantation was independently associated with decreases in pulse wave velocity (ß = -0.67; P development of cardiovascular organ damage after renal transplantation.

  12. Semaphorin 4C Protects against Allergic Inflammation: Requirement of Regulatory CD138+ Plasma Cells.

    Science.gov (United States)

    Xue, Di; Kaufman, Gabriel N; Dembele, Marieme; Beland, Marianne; Massoud, Amir H; Mindt, Barbara C; Fiter, Ryan; Fixman, Elizabeth D; Martin, James G; Friedel, Roland H; Divangahi, Maziar; Fritz, Jörg H; Mazer, Bruce D

    2017-01-01

    The regulatory properties of B cells have been studied in autoimmune diseases; however, their role in allergic diseases is poorly understood. We demonstrate that Semaphorin 4C (Sema4C), an axonal guidance molecule, plays a crucial role in B cell regulatory function. Mice deficient in Sema4C exhibited increased airway inflammation after allergen exposure, with massive eosinophilic lung infiltrates and increased Th2 cytokines. This phenotype was reproduced by mixed bone marrow chimeric mice with Sema4C deficient only in B cells, indicating that B lymphocytes were the key cells affected by the absence of Sema4C expression in allergic inflammation. We determined that Sema4C-deficient CD19 + CD138 + cells exhibited decreased IL-10 and increased IL-4 expression in vivo and in vitro. Adoptive transfer of Sema4c -/- CD19 + CD138 + cells induced marked pulmonary inflammation, eosinophilia, and increased bronchoalveolar lavage fluid IL-4 and IL-5, whereas adoptive transfer of wild-type CD19 + CD138 + IL-10 + cells dramatically decreased allergic airway inflammation in wild-type and Sema4c -/- mice. This study identifies a novel pathway by which Th2-mediated immune responses are regulated. It highlights the importance of plasma cells as regulatory cells in allergic inflammation and suggests that CD138 + B cells contribute to cytokine balance and are important for maintenance of immune homeostasis in allergic airways disease. Furthermore, we demonstrate that Sema4C is critical for optimal regulatory cytokine production in CD138 + B cells. Copyright © 2016 by The American Association of Immunologists, Inc.

  13. Type I Glycogen Storage Disease

    Science.gov (United States)

    ... the most common form of glycogen storage disease, accounting for 25% of all cases. It is an ... Links Videos Webinars About ALF OVERVIEW Programs About Liver Disease Ask the Experts People ALF ...

  14. Insulin and Alzheimer disease: type 3 diabetes?

    Directory of Open Access Journals (Sweden)

    Andrés Jagua Gualdrón

    2007-01-01

    Full Text Available Alzheimer Disease is a neurodegenerative disease of central nervous system whose incidence will increase in next years. Recent investigations relate alzheimer with insulin signaling defects in neurons. Is alzheimer Disease a type 3 diabetes? In this communication write a brief article about evidences from this alzheimer‘s disease model.

  15. Human papillomavirus type 56-associated Bowen disease.

    Science.gov (United States)

    Shimizu, A; Tamura, A; Abe, M; Amano, H; Motegi, S; Nakatani, Y; Hoshino, H; Ishikawa, O

    2012-11-01

    Some cases of human papillomavirus (HPV) type 56 infection in Bowen disease have been reported. However, the incidence and clinical characteristics are still unclear. To clarify the prevalence of HPV type 56-positive Bowen disease in our department and to characterize the clinical manifestations. Sixty-eight specimens of Bowen disease were examined by polymerase chain reaction using HPV consensus primers, and the amplified products were subjected to DNA sequence analyses. Moreover, positive samples were investigated by in situ hybridization. These findings were used to clarify the clinical characteristics of HPV-positive Bowen disease. Eight out of 68 specimens (12%) of Bowen disease were HPV-positive, of which six specimens were HPV type 56-positive. The HPV type 56-positive lesions were characterized by a longitudinal melanonychia or a deeply pigmented keratotic lesion. The remaining two specimens were genital Bowen disease in which HPV type 16 was detected. In situ hybridization demonstrated the positive cells in the upper layer of epidermis. The HPV type 56 detected in the samples of longitudinal melanonychia can be divided into at least into two types. This study determined the prevalence of HPV type 56-positive Bowen disease. Longitudinal melanonychia is the most characteristic manifestation of HPV type 56-associated Bowen disease. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

  16. Hyaline-Vascular Type Castleman's Disease, Sarcoidosis, and Crohns Disease.

    Science.gov (United States)

    Gupta, Arjun; Ayyar, Balaji; Zia, Hamid; Chen, Weina; Harris, Samar; Naina, Harris V

    2016-06-01

    Sarcoidosis and Crohns disease have been associated with increased long term risk of lymphoproliferative disorders, including lymphomas. Newly developed lymphadenopathy in a patient with these disorders should prompt pathological evaluation. Castleman's disease is a lymphoproliferative disorder characterized by enlarged hyperplastic lymph nodes with regressed follicles surrounded by expanded mantle zones of small lymphocytes, and interfollicular vascular proliferation in the hyaline-vascular type. Similar to sarcoidosis and Crohns disease, its etiology is incompletely understood, although immune dysregulation, genetic factors and infectious and environmental factors are thought to play a role in all three diseases. Interleukin-6 is a possible pathological common factor between these three disease processed. Unicentric, hyaline-vascular type Castleman's disease can be treated successfully with complete surgical resection. We report a patient with long history of sarcoidosis and Crohns disease with newly developed lymphadenopathy which was found to be due to Castleman's disease.

  17. 4C technology: protocols and data analysis

    NARCIS (Netherlands)

    van de Werken, H.J.; de Vree, P.J.; Splinter, E.; Holwerda, S.J.; Klous, P.; de Wit, E.; de Laat, W.

    2012-01-01

    Chromosome conformation capture (3C) technology and its genome-wide derivatives have revolutionized our knowledge on chromatin folding and nuclear organization. 4C-seq Technology combines 3C principles with high-throughput sequencing (4C-seq) to enable for unbiased genome-wide screens for DNA

  18. Fetal presentation of Morquio disease type A.

    Science.gov (United States)

    Beck, M; Braun, S; Coerdt, W; Merz, E; Young, E; Sewell, A C

    1992-12-01

    A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.

  19. The chain structure of [Ni(C4H2O4(C12H8N2(H2O]n with different types of fumarate bridging

    Directory of Open Access Journals (Sweden)

    Anna Uhrinová

    2012-02-01

    Full Text Available Using modified solvothermal conditions (longer cooling time, beside previously characterized dark-green crystals of [Ni(C4H2O4(C12H8N2] (main product, a few light-green crystals of the polymeric title compound, catena-poly[[aqua(1,10-phenanthroline-κ2N,N′nickel(II]-μ-fumarato-κ2O:O′-[aqua(1,10-phenanthroline-κ2N,N′nickel(II]-μ-fumarato-κ4O,O′:O′′,O′′′], [Ni(C4H2O4(C12H8N2(H2O]n were isolated. Its crystal structure is made up from zigzag chains, propagating in [001], in which the Ni2+ ions are linked alternatively by μ2-fumarato and bis-chelating fumarato bridging ligands. The Ni2+ ion is coordinated in a deformed octahedral geometry by one chelating 1,10-phenanthroline ligand, one aqua ligand in a cis position with regard to both N-donor atoms and by two different fumarato ligands, each residing with its central C=C bond on an inversion centre, occupying the remaining coordination sites in a fac fashion. The chains thus formed are linked by O—H...O hydrogen bonds and π–π interactions between the aromatic rings of the phenanthroline ligands with a shortest ring centroid separation of 3.4787 (10 Å.

  20. Genetics Home Reference: glycogen storage disease type IV

    Science.gov (United States)

    ... Home Health Conditions Glycogen storage disease type IV Glycogen storage disease type IV Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type IV (GSD IV) is an inherited disorder ...

  1. Genetics Home Reference: glycogen storage disease type III

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    ... Home Health Conditions Glycogen storage disease type III Glycogen storage disease type III Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type III (also known as GSDIII or Cori ...

  2. Genetics Home Reference: glycogen storage disease type I

    Science.gov (United States)

    ... Home Health Conditions Glycogen storage disease type I Glycogen storage disease type I Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type I (also known as GSDI or von ...

  3. Pregnancies in glycogen storage disease type Ia

    NARCIS (Netherlands)

    Martens, Danielle H. J.; Rake, Jan Peter; Schwarz, Martin; Ullrich, Kurt; Weinstein, David A.; Merkel, Martin; Sauer, Pieter J. J.; Smit, G. Peter A.

    OBJECTIVE: Reports on pregnancies in women with glycogen storage disease type Ia (GSD-Ia) are scarce. Because of improved life expectancy, pregnancy is becoming an important issue. We describe 15 pregnancies by focusing on dietary treatment, biochemical parameters, and GSD-Ia complications. STUDY

  4. Type I Gaucher disease: extraosseous extension of skeletal disease

    International Nuclear Information System (INIS)

    Poll, L.W.; Koch, J.A.; Moedder, U.; Dahl, S. vom; Haeussinger, D.; Sarbia, M.; Niederau, C.

    2000-01-01

    Objective. To investigate the frequency and morphology of extraosseous extension in patients with Gaucher disease type I.Design and patients. MRI examinations of the lower extremities were analyzed in 70 patients with Gaucher disease type I. Additionally, the thoracic spine and the midface were investigated on MRI in two patients.Results. Four cases are presented in which patients with Gaucher disease type I and severe skeletal involvement developed destruction or protrusion of the cortex with extraosseous extension into soft tissues. In one patient, Gaucher cell deposits destroyed the cortex of the mandible and extended into the masseter muscle. In the second patient, multiple paravertebral masses with localized destruction of the cortex were apparent in the thoracic spine. In the third and fourth patient, cortical destruction with extraosseous tissue extending into soft tissues was seen in the lower limbs.Conclusions. Extraosseous extension is a rare manifestation of Gaucher bone disease. While an increased risk of cancer, especially hematopoietic in origin, is known in patients with Gaucher disease, these extraosseous benign manifestations that may mimic malignant processes should be considered in the differential diagnosis of extraosseous extension into soft tissues. A narrow neck of tissue was apparent in all cases connecting bone and extraosseous extensions. (orig.)

  5. Glycogen storage disease type II (Pompe disease in children

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina

    2014-01-01

    Full Text Available The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease. Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h, described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease

  6. Chromosome Conformation Capture on Chip (4C)

    DEFF Research Database (Denmark)

    Leblanc, Benjamin Olivier; Comet, Itys; Bantignies, Frédéric

    2016-01-01

    4C methods are useful to investigate dependencies between regulatory mechanisms and chromatin structures by revealing the frequency of chromatin contacts between a locus of interest and remote sequences on the chromosome. In this chapter we describe a protocol for the data analysis of microarray-...... to analyze ChIP-on-chip data on broadly distributed chromatin components such as histone marks....

  7. HLA Typing and Celiac Disease in Moroccans

    Directory of Open Access Journals (Sweden)

    Daniela Piancatelli

    2017-01-01

    Full Text Available Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described. In this report, we assess and discuss results of HLA class II (HLA-DQA1/DQB1/DRB1 typing in Moroccan patients with CD and compare them with a control population from Morocco—genetically well characterized—and with other North African, Mediterranean, and European populations. The classical HLA-DQ associations were confirmed in Moroccans with CD. The high frequency of DQ2.5 homozygosity (45.2% found in Moroccans with CD was noteworthy as compared with other populations (23%–32%. The genetic risk gradient for CD, identified by previous studies, has been confirmed in Moroccans with some differences, mainly concerning DQ8 genotypes. This study provides the immunogenetic framework of CD in Moroccans and confirms the need to learn more about associations with additional HLA and non-HLA genetic factors.

  8. HLA Typing and Celiac Disease in Moroccans.

    Science.gov (United States)

    Piancatelli, Daniela; Ben El Barhdadi, Imane; Oumhani, Khadija; Sebastiani, Pierluigi; Colanardi, Alessia; Essaid, Abdellah

    2017-01-06

    Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA) allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD) has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described. In this report, we assess and discuss results of HLA class II (HLA-DQA1/DQB1/DRB1) typing in Moroccan patients with CD and compare them with a control population from Morocco-genetically well characterized-and with other North African, Mediterranean, and European populations. The classical HLA-DQ associations were confirmed in Moroccans with CD. The high frequency of DQ2.5 homozygosity (45.2%) found in Moroccans with CD was noteworthy as compared with other populations (23%-32%). The genetic risk gradient for CD, identified by previous studies, has been confirmed in Moroccans with some differences, mainly concerning DQ8 genotypes. This study provides the immunogenetic framework of CD in Moroccans and confirms the need to learn more about associations with additional HLA and non-HLA genetic factors.

  9. Genetics Home Reference: medullary cystic kidney disease type 1

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    ... Medullary cystic kidney disease type 1 Medullary cystic kidney disease type 1 Printable PDF Open All Close All ... is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Pelizaeus-Merzbacher- ...

  10. Celiac disease in type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Camarca Maria

    2012-03-01

    Full Text Available Abstract Celiac Disease (CD occurs in patients with Type 1 Diabetes (T1D ranging the prevalence of 4.4-11.1% versus 0.5% of the general population. The mechanism of association of these two diseases involves a shared genetic background: HLA genotype DR3-DQ2 and DR4-DQ8 are strongly associated with T1D, DR3-DQ2 with CD. The classical severe presentation of CD rarely occurs in T1D patients, but more often patients have few/mild symptoms of CD or are completely asymptomatic (silent CD. In fact diagnosis of CD is regularly performed by means of the screening in T1D patients. The effects of gluten-free diet (GFD on the growth and T1D metabolic control in CD/T1D patient are controversial. Regarding of the GFD composition, there is a debate on the higher glycaemic index of gluten-free foods respect to gluten-containing foods; furthermore GFD could be poorer of fibers and richer of fat. The adherence to GFD by children with CD-T1D has been reported generally below 50%, lower respect to the 73% of CD patients, a lower compliance being more frequent among asymptomatic patients. The more severe problems of GFD adherence usually occur during adolescence when in GFD non compliant subjects the lowest quality of life is reported. A psychological and educational support should be provided for these patients.

  11. Genetics Home Reference: glycogen storage disease type V

    Science.gov (United States)

    ... Home Health Conditions Glycogen storage disease type V Glycogen storage disease type V Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type V (also known as GSDV or McArdle ...

  12. Liver transplantation for type I and type IV glycogen storage disease

    OpenAIRE

    Selby, R.; Starzl, T.E.; Yunis, E.; Todo, S.; Tzakis, A.G.; Brown, B.I.; Kendall, R.S.

    1993-01-01

    Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-old-girl with GSD type I was successfully treated in 1982 by orthotopic liver transplantation under cyclosporine and steroid immunosuppression...

  13. In vivo mutational analysis of the N-terminal region of HIV-1 Nef reveals critical motifs for the development of an AIDS-like disease in CD4C/HIV transgenic mice

    International Nuclear Information System (INIS)

    Hanna, Zaher; Priceputu, Elena; Kay, Denis G.; Poudrier, Johanne; Chrobak, Pavel; Jolicoeur, Paul

    2004-01-01

    HIV-1 Nef is a critical determinant of pathogenicity in humans and transgenic (Tg) mice. To gain a better understanding of the molecular mechanisms by which Nef induces an AIDS-like disease in Tg mice, a mutational analysis of the N-terminal domain, involved in anchoring Nef to the plasma membrane, was carried out. The pathogenic effects of these Nef mutant alleles were evaluated in Tg mice by FACS analysis and by histopathological assessment. Mutation of the myristoylation site (G2A) completely abrogated the development of the AIDS-like organ disease in Tg mice, although partial downregulation of the CD4 cell surface protein and depletion of peripheral CD4 + T-cells, but not of CD4 + CD8 + thymocytes, still occurred. Despite that, the peripheral CD4 + T cells expressing Nef G2A show normal spontaneous proliferation in vivo or after stimulation in vitro, including in an allogenic mixed leukocyte reaction (MLR). Three other internal deletion mutants of Nef, spanning amino acids 8-17 (Nef Δ8-17 ), 25-35 (Nef Δ25-35 ), and 57-66 (Nef Δ57-66 ), were also studied. Nef Δ8-17 retained full pathogenic potential, although Nef Δ25-35 and Nef Δ57-66 Tg mice were free of organ disease. However, Nef Δ25-35 Tg mice exhibited disorganization of thymic architecture and a partial depletion of peripheral CD4 + T cells. These data indicate that myristoylation and other regions at the N-terminus of Nef (aa 25-35 and 57-66) are involved in mediating severe T-cell phenotypes and organ disease, although residues 8-17 are dispensable for these Nef functions. In addition, these results indicate that at least some of the CD4 + T-cell phenotypes can develop independently of the other AIDS-like organ phenotypes. This apparent segregation of different Nef-mediated phenotypes suggests distinct mechanisms of Nef action in different populations of target cells, and may be relevant to human AIDS

  14. Bullous Skin Diseases: Classical Types of Autoimmune Diseases

    Directory of Open Access Journals (Sweden)

    Jan Damoiseaux

    2013-01-01

    Full Text Available The prototypic bullous skin diseases, pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid, are characterized by the blister formation in the skin and/or oral mucosa in combination with circulating and deposited autoantibodies reactive with (hemidesmosomes. Koch’s postulates, adapted for autoimmune diseases, were applied on these skin diseases. It appears that all adapted Koch’s postulates are fulfilled, and, therefore, these bullous skin diseases are to be considered classical autoimmune diseases within the wide and expanding spectrum of autoimmune diseases.

  15. Niemann-Pick disease type C

    OpenAIRE

    Vanier, Marie T

    2010-01-01

    Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno- or hepatosplenomegaly in...

  16. A case of glycogen storage disease type III

    OpenAIRE

    Kırış, S.; Özdoğan, O.C.; Avşar, E.; Kalaycı, C.; Tözün, N.; Ulusoy, N.B.

    1996-01-01

    Glycogen storage diseases (GSD) are hereditary metabolic disorders leading to the storage in cells of glycogen of normal or abnormal structure.We report a case of glycogen storage disease Type III which was diagnosed in October 1993.

  17. SEXUALLY TRANSMITTED DISEASES - HISTORY, TYPES, PREVALENCE, EPIDEMIOLOGY

    Directory of Open Access Journals (Sweden)

    Valentin Irmov

    2017-12-01

    Full Text Available Sexually transmitted infections affect persons of active sex and cause serious consequences for the human organism, society and the generation. They spread sporadically, epidemically, and in some of them there are pandemics. For example, humanity is currently in a third viral hepatitis pandemic and a first AIDS pandemic. Another group of diseases can also be transmitted through sexual contact, but this is not the main mode of transmission. Such are salmonellosis, amoebiasis, influenza, various causes of meningitis and pneumonia. Despite being sexually transmitted, this is not a major and almost irrelevant way of transmitting the infection. Therefore, the diseases themselves are not included in the group of sexually transmitted diseases.

  18. Pompe's disease or type IIa glycogenosis

    Directory of Open Access Journals (Sweden)

    Jacob José Luiz Balthazar

    1999-01-01

    Full Text Available This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.

  19. Glycogen storage disease type III diagnosis and management guidelines.

    Science.gov (United States)

    Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S

    2010-07-01

    Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Glycogen storage disease type III manifests a wide clinical spectrum. Individuals with glycogen storage disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of disease progression, and severity. Those with type IIIb primarily have symptoms related to liver disease. This guideline for the management of glycogen storage disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. An international group of experts in various aspects of glycogen storage disease type III met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in glycogen storage disease type III. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic transplantation, and prenatal diagnosis, are addressed. A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with glycogen storage disease type III was developed. This guideline will help health care providers recognize patients with all forms of

  20. Molecular analysis of glycogen storage disease type Ia in Iranian ...

    Indian Academy of Sciences (India)

    [Mahmoud S. K., Khorrami A., Rafeey M., Ghergherehchi R. and Sima M. D. 2017 Molecular analysis of glycogen storage disease type Ia in Iranian Azeri ... G6PC gene; Azeri Turkish; glycogen storage disease type Ia; novel mutation; Azeri Turkish sequencing. ... Approximately 5 ml of intravenous blood samples were col-.

  1. Hepatocellular carcinoma in glycogen storage disease type IV

    OpenAIRE

    de Moor, R A; Schweizer, J; van Hoek, B; Wasser, M; Vink, R; Maaswinkel-Mooy, P

    2000-01-01

    A 13 year old patient with juvenile type IV glycogen storage disease died of the complications of hepatocellular carcinoma. To our knowledge this is the first reported case of hepatocellular carcinoma in association with type IV glycogen storage disease.



  2. Type 2 Gaucher's disease in a Malian family

    African Journals Online (AJOL)

    cases of no-neuropathic forms from South. Africa [5,6,7,8]. To our knowledge, the type. 2 neuropathic form of Gaucher's disease has never been described in a black African family. We report here the first case of Type. 2 Gaucher's disease from a Malian family. Case Report. Observation 2305/98 B: Female, 8 months of.

  3. Periodontal disease in children with type 2 diabetes mellitus.

    Science.gov (United States)

    Wooton, Angela K; Melchior, Lynne M; Coan, Lorinda L; Reddington, Amanda R

    2018-02-16

    Collaborative efforts between health team members can advance early detection of children with elevated blood glucose levels, preventing hyperglycemia and periodontal diseases. Rates of obesity are increasing in children, impacting the prevalence of type 2 diabetes mellitus and periodontal diseases. Collaborative care between nurse practitioners and dental hygienists can detect, prevent, and treat periodontal disease in children.

  4. Conjugate Haemophilus influenzae type b vaccines for sickle cell disease.

    Science.gov (United States)

    Allali, Slimane; Chalumeau, Martin; Launay, Odile; Ballas, Samir K; de Montalembert, Mariane

    2016-02-16

    People affected with sickle cell disease are at high risk of infection from Haemophilus influenzae type b. Before the implementation of Haemophilus influenzae type b conjugate vaccination in high-income countries, this was responsible for a high mortality rate in children under five years of age. In African countries, where coverage of this vaccination is still extremely low, Haemophilus influenzae type b remains one of the most common cause of bacteraemias in children with sickle cell disease. The increased uptake of this conjugate vaccination may substantially improve the survival of children with sickle cell disease. The primary objective was to determine whether Haemophilus influenzae type b conjugate vaccines reduce mortality and morbidity in children and adults with sickle cell disease.The secondary objectives were to assess the following in children and adults with sickle cell disease: the immunogenicity of Haemophilus influenzae type b conjugate vaccines; the safety of these vaccines; and any variation in effect according to type of vaccine, mode of administration (separately or in combination with other vaccines), number of doses, and age at first dose. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also contacted relevant pharmaceutical companies to identify unpublished trials.Date of last search: 23 November 2015. All randomised and quasi-randomised controlled trials comparing Haemophilus influenzae type b conjugate vaccines with placebo or no treatment, or comparing different types of Haemophilus influenzae type b conjugate vaccines in people with sickle cell disease. No trials of Haemophilus influenzae type b conjugate vaccines in people with sickle cell disease were found. There is an absence of evidence from randomised controlled trials relating to the subject of this review. There has

  5. The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

    Science.gov (United States)

    Hobson-Webb, Lisa D; Austin, Stephanie L; Bali, Deeksha S; Kishnani, Priya S

    2010-07-01

    Glycogen Storage Disease Type III, also known as debrancher deficiency or Cori disease, is an autosomal recessive disorder recognized for both its hepatic and muscle manifestations. The neuromuscular manifestations of Glycogen Storage Disease Type III are not well characterized. In this study, we attempt to better define the disorder. The medical records of 40 patients with Glycogen Storage Disease Type III seen at Duke University during 1990-2009 were reviewed. The medical records of all patients with nerve conduction studies and/or electromyography were examined. Twelve patients with Glycogen Storage Disease Type III (aged 5-55 years) had undergone nerve conduction studies +/- electromyography. Three of these cases are presented in detail. Nine patients had Glycogen Storage Disease Type IIIa, two patients had Glycogen Storage Disease Type IIIb, and the clinical subtype of one patient was unknown. All had nerve conduction studies and of those nerves tested, abnormalities in the median motor response were most common, corresponding to previously described, intrinsic hand muscle weakness. Electromyography was performed in eight patients and myopathic findings were present in six individuals. Abnormal electrodiagnostic findings were more common in older patients. The two patients with Glycogen Storage Disease Type IIIb had electrodiagnostic evidence of nerve involvement with minor myopathic findings. The neuromuscular manifestations of Glycogen Storage Disease Type III include myopathy and neuropathy and are more likely to occur with increasing age, even in those diagnosed with Glycogen Storage Disease Type IIIb. Intrinsic hand muscle weakness is likely due to a combination of nerve and muscle dysfunction, a finding that may have implications for treatment.

  6. Periodontal disease in type 2 diabetes mellitus

    International Nuclear Information System (INIS)

    Haseeb, M.; Khawaja, K.I.; Ataullah, K.; Munir, M.B.; Fatima, A.

    2012-01-01

    Objective: To determine the periodontal status in well controlled and poorly controlled type 2 diabetic patients compared with normal healthy individuals. Methodology: Forty well controlled and forty poorly controlled type 2 diabetic subjects having good oral hygiene (scored according to simplified oral hygiene index) were compared with a control group of forty normal healthy individuals. Probing depth (PD), gingival recession (GR), and attachment loss (AL) were recorded to obtain the periodontal status of each tooth, using a Michigan probe '0' with Williams marking. Glycemic control was evaluated by glycated Hb value. Using ANOVA and independent sample t-test, mean probing depth and attachment loss in each tooth type (incisors, canines, premolars and molars) were compared. Results: Mean age of diabetic subjects was 58.86 +- 6.21 years and that of control group was 56.92 +- 6.91 years; 60% were females. Probing depth was greater in patients with poorly controlled diabetes compared to well controlled diabetic patients and non-diabetic controls (4.21 mm vs. 3.72 mm and 2.93 mm respectively, p 0.05). Number of sites and mean percentage of sites with attachment loss of greater or equal to 4 and greater or equal to 6 mm was also significantly higher in poorly controlled diabetes compared to the control group (p < 0.05 and p < 0.001 respectively). Conclusion: Periodontal status as estimated by probing depth and degree of attachment loss deteriorates significantly with poor glycemic control in diabetes. (author)

  7. Periodontal disease in type 2 diabetes mellitus.

    Science.gov (United States)

    Haseeb, Muhammad; Khawaja, Khadija Irfan; Ataullah, Khurram; Munir, Muhammad Bader; Fatima, Aziz

    2012-08-01

    To determine the periodontal status in well controlled and poorly controlled type 2 diabetic patients compared with normal healthy individuals. Cross-sectional comparative study. Diabetes Management Centre, Services Hospital, Lahore, from November 2009 to January 2010. Forty well controlled and forty poorly controlled type 2 diabetic subjects having good oral hygiene (scored according to simplified oral hygiene index) were compared with a control group of forty normal healthy individuals. Probing depth (PD), gingival recession (GR), and attachment loss (AL) were recorded to obtain the periodontal status of each tooth, using a Michigan probe "0" with Williams marking. Glycemic control was evaluated by glycated Hb value. Using ANOVA and independent sample t-test, mean probing depth and attachment loss in each tooth type (incisors, canines, premolars and molars) were compared. Mean age of diabetic subjects was 58.86 ± 6.21 years and that of control group was 56.92 ± 6.91 years; 60% were females. Probing depth was greater in patients with poorly controlled diabetes compared to well controlled diabetic patients and non-diabetic controls (4.21 mm vs. 3.72 mm and 2.93 mm respectively, p diabetes (p diabetes, however, the difference was not statistically significant when comparing well controlled to the control group (p > 0.05). Number of sites and mean percentage of sites with attachment loss of ³ 4 and ³ 6 mm was also significantly higher in poorly controlled diabetes compared to the control group (p Periodontal status as estimated by probing depth and degree of attachment loss deteriorates significantly with poor glycemic control in diabetes.

  8. Niemann-Pick disease type C

    Directory of Open Access Journals (Sweden)

    Vanier Marie T

    2010-06-01

    Full Text Available Abstract Niemann-Pick C disease (NP-C is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno- or hepatosplenomegaly in infancy or childhood. The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile period, gait problems, falls, clumsiness, cataplexy, school problems (late infantile and juvenile period, and ataxia not unfrequently following initial psychiatric disturbances (adult form. The most characteristic sign is vertical supranuclear gaze palsy. The neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures and dystonia are other common features. NP-C is transmitted in an autosomal recessive manner and is caused by mutations of either the NPC1 (95% of families or the NPC2 genes. The exact functions of the NPC1 and NPC2 proteins are still unclear. NP-C is currently described as a cellular cholesterol trafficking defect but in the brain, the prominently stored lipids are gangliosides. Clinical examination should include comprehensive neurological and ophthalmological evaluations. The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes after staining with filipin. Pronounced abnormalities are observed in about 80% of the cases, mild to moderate alterations in the remainder ("variant" biochemical phenotype. Genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis. The differential

  9. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21

    NARCIS (Netherlands)

    J. Aaltonen (Johanna); P. Björses (Petra); L.A. Sandkuijl (Lodewijk); J. Perheentupa (Jaakko); L. Peltonen (Leena Johanna)

    1994-01-01

    textabstractAutoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does

  10. Strong association between myotonic dystrophy type 2 and autoimmune diseases.

    NARCIS (Netherlands)

    Tieleman, A.A.; Broeder, A. den; Logt, A. van de; Engelen, B.G.M. van

    2009-01-01

    BACKGROUND: Myotonic dystrophy type 2 (DM2) is a dominantly inherited multisystem disorder, characterised by progressive proximal weakness, myotonia, cataracts and cardiac conduction abnormalities. Our clinical impression of an association between DM2 and autoimmune diseases or autoantibody

  11. Type 2 Gaucher disease among in Ashkenazi Jews

    Science.gov (United States)

    Aviner, Shraga; Garti, Ben-Zion; Rachmel, Avinoam; Baris, Hagit; Sidransky, Ellen; Schiffmann, Raphael; Shuffer, Avinoam; Atias, A.; Yaniv, Yitchak; Cohen, Ian J

    2012-01-01

    Patients with Gaucher disease (GD) are typicslly divided into 3 types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occuranve of type 2 GD in six pregnancies in three Jewish families in Israel, and also review seven additional cases of type 2 GD in Ashkenazi Jewish families patients reported in the literature. Geneotypic analysis of probands from the three Israeli families demonstrate that all carried two heterozygous glucocerebrosidase mutations. We conclude that type 2 GD in Ashkenazi Jews is extremely rare, but that phenotypically it does not differ significantly from this form of thee disease in other ethnic groups. The recurrence of multiple cases in families emphasizes the need for proper diagnosis and genetic counseling regarding type 2 GD among Ashkenazi Jews PMID:19734074

  12. Comorbidity between chronic obstructive pulmonary disease and type 2 diabetes

    DEFF Research Database (Denmark)

    Meteran, Howraman; Backer, Vibeke; Kyvik, Kirsten Ohm

    2015-01-01

    BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality and is associated with several systemic diseases, such as type 2 diabetes. It has been suggested that comorbidity between COPD and type 2 diabetes is due to shared genetic factors. AIM: To examine...... the relationship between type 2 diabetes and chronic bronchitis and COPD in adult twins, and to examine to what extent comorbidity between these diseases is explained by shared genetic or environmental factors. METHODS: Questionnaire data on chronic bronchitis and hospital discharge data on diagnosed COPD in 13......,649 twins, aged 50-71 years, from the Danish Twin Registry were cross-linked with hospital discharge diagnosis data on type 2 diabetes from the Danish National Patient Registry. RESULTS: The risk of type 2 diabetes was higher in persons with symptoms of chronic bronchitis than in those without symptoms (3...

  13. Increased basal glucose production in type 1 Gaucher's disease

    NARCIS (Netherlands)

    Corssmit, E. P.; Hollak, C. E.; Endert, E.; van Oers, M. H.; Sauerwein, H. P.; Romijn, J. A.

    1995-01-01

    To evaluate the metabolic effects of Gaucher's disease, glucose metabolism and parameters of fat metabolism were studied by indirect calorimetry and primed continuous infusion of [3-3H]glucose in seven clinically stable untreated patients with type 1 Gaucher's disease and in seven healthy matched

  14. Emergence of Invasive Haemophilus influenzae Type A Disease in Italy.

    Science.gov (United States)

    Giufrè, Maria; Cardines, Rita; Brigante, Gioconda; Orecchioni, Francesca; Cerquetti, Marina

    2017-06-01

    We report on the first detection of 2 cases of invasive Haemophilus influenzae type a (Hia) disease in Italy. The cases were sustained by the same Hia "strain" belonging to the ST23 clone that has previously been reported only outside Europe. The emergence of invasive Hia disease is of concern. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

  15. Liver transplantation in glycogen storage disease type I

    NARCIS (Netherlands)

    Boers, Susanna J. B.; Visser, Gepke; Smit, Peter G. P. A.; Fuchs, Sabine A.

    2014-01-01

    Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex. GSDIa is

  16. A probable new type of osteopenic bone disease

    Energy Technology Data Exchange (ETDEWEB)

    Widhe, Torulf L. [Department of Orthopaedics, Huddinge University Hospital (Sweden)

    2002-06-01

    A probable new type of osteopenic bone disease in two sisters and one female cousin is described. In infancy, the radiological findings were osteopenia, coxa vara, periosteal cloaking, bowing of the long bones, and flaring of the metaphyses. During growth, spinal pathology developed with compression of the vertebral bodies and scoliosis in one girl and kyphosis in another. All three children had genu valgum and two developed severe S-shaped bowing of the tibiae. Growth was stunted. Inheritance of this disorder is probably recessive. Type I and III collagen biosynthesis was normal. This condition is probably a hitherto undescribed form of osteogenesis imperfecta type III or a new bone disease. (orig.)

  17. A probable new type of osteopenic bone disease

    International Nuclear Information System (INIS)

    Widhe, Torulf L.

    2002-01-01

    A probable new type of osteopenic bone disease in two sisters and one female cousin is described. In infancy, the radiological findings were osteopenia, coxa vara, periosteal cloaking, bowing of the long bones, and flaring of the metaphyses. During growth, spinal pathology developed with compression of the vertebral bodies and scoliosis in one girl and kyphosis in another. All three children had genu valgum and two developed severe S-shaped bowing of the tibiae. Growth was stunted. Inheritance of this disorder is probably recessive. Type I and III collagen biosynthesis was normal. This condition is probably a hitherto undescribed form of osteogenesis imperfecta type III or a new bone disease. (orig.)

  18. [Periodontal disease in children with diabetes mellitus type 1].

    Science.gov (United States)

    Tuleutaeva, S; Ashirbekova, Z; Manapova, D; Almurat, S; Kharchenko, V

    2014-10-01

    The aim of the article was to study the occurrence of periodontal diseases in children with type I diabetes mellitus. The examination of 78 children revealed periodontal diseases in 40 children with type I diabetes. OHI-S, CPITN, PMA indices were determined. Pathological changes in periodontal tissues were revealed in 100% of cases. The following were identified: gingival hemorrhage (100%), over - and under-gingival dental tartar (100%), inflammation of gingival papilla (87,5%) marginal (80%) and alveolar gingiva (55%). Spread of periodontal disease among children with I type diabetes is characterized as high and is equal to 100%. Degree of periodontal sickness is evaluated as average and is M=2,28; SD=0,47 according to CPITN index. Treatment and preventive measures should be carried out taking into account major somatic disease.

  19. Benchmark and physics testing of LIFE-4C. Summary

    International Nuclear Information System (INIS)

    Liu, Y.Y.

    1984-06-01

    LIFE-4C is a steady-state/transient analysis code developed for performance evaluation of carbide [(U,Pu)C and UC] fuel elements in advanced LMFBRs. This paper summarizes selected results obtained during a crucial step in the development of LIFE-4C - benchmark and physics testing

  20. Crystal structures of Er4Ni13C4 and UW4C4

    International Nuclear Information System (INIS)

    Khalili, M.M.; Bodak, O.I.; Marusin, E.P.; Pecharskaya, A.O.

    1990-01-01

    Crystal structures of Er 4 Ni 13 C 4 (1) (sp.gr. Cmmm, a=1.1975(4), b=1.1694(3), c=0.3856(1) nm, Z=2) and UW 4 C 4 (2) (sp.gr. P4/m, a=0.8328(8), c=0.31345(9) nm, Z=2), relating to new types are determined. Structural type (1) is a derivative of La 2 Ni 5 C 3 structure, structural type (2) is close to UCr 4 C 4 structure

  1. Noncompaction myocardium in association with type Ib glycogen storage disease.

    Science.gov (United States)

    Goeppert, Benjamin; Lindner, Martin; Vogel, Monika Nadja; Warth, Arne; Stenzinger, Albrecht; Renner, Marcus; Schnabel, Philipp; Schirmacher, Peter; Autschbach, Frank; Weichert, Wilko

    2012-10-15

    Noncompaction myocardium is a rare disorder assumed to occur as an arrest of the compaction process during the normal development of the heart. Left ventricular noncompaction has been reported to be associated with a variety of cardiac and extracardiac, especially neuromuscular abnormalities. Moreover, it has been suggested that metabolic alterations could be responsible for the noncompaction. However, no association of noncompaction myocardium with type Ib glycogen storage disease (GSD) has been reported so far. Type Ib GSD is due to a defect of a transmembrane protein which results, similar to type Ia GSD, in hypoglycemia, a markedly enlarged liver and, additionally, in neutropenia, recurrent infections, and inflammatory bowel disease. Until now, no muscular or cardiac involvement has been described in type Ib GSD patients. The present case represents the first report of a noncompaction myocardium in a child with type Ib GSD who died of sudden clinical deterioration at the age of four. Copyright © 2012 Elsevier GmbH. All rights reserved.

  2. Liver transplantation for type I and type IV glycogen storage disease.

    Science.gov (United States)

    Selby, R; Starzl, T E; Yunis, E; Todo, S; Tzakis, A G; Brown, B I; Kendall, R S

    1993-01-01

    Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-old-girl with GSD type I was successfully treated in 1982 by orthotopic liver transplantation under cyclosporine and steroid immunosuppression. The metabolic consequences of the disease have been eliminated, the renal function and size have remained normal, and the patient has lived a normal young adult life. A late portal venous thrombosis was treated successfully with a distal splenorenal shunt. Orthotopic liver transplantation was performed in seven children with type N GSD who had progressive hepatic failure. Two patients died early from technical complications. The other five have no evidence of recurrent hepatic amylopectinosis after 1.1-5.8 postoperative years. They have had good physical and intellectual maturation. Amylopectin was found in many extrahepatic tissues prior to surgery, but cardiopathy and skeletal myopathy have not developed after transplantation. Postoperative heart biopsies from patients showed either minimal amylopectin deposits as long as 4.5 years following transplantation or a dramatic reduction in sequential biopsies from one patient who initially had dense myocardial deposits. Serious hepatic derangement is seen most commonly in types I and IV GSD. Liver transplantation cures the hepatic manifestations of both types. The extrahepatic deposition of abnormal glycogen appears not to be problematic in type I disease, and while potentially more threatening in type IV disease, may actually exhibit signs of regression after hepatic allografting.

  3. Menorrhagia in patients with type I glycogen storage disease.

    Science.gov (United States)

    Austin, Stephanie L; El-Gharbawy, Areeg H; Kasturi, Vellore G; James, Andra; Kishnani, Priya S

    2013-12-01

    To evaluate menorrhagia in a cohort of women with glycogen storage disease type I because it appears to be an under-recognized problem in females of reproductive age. A retrospective chart review was performed on 13 menstruating patients with glycogen storage disease type I (age 23-48 years) for a diagnosis of menorrhagia. Nine (69%) (confidence interval 0.39-0.91) women had development of menorrhagia. Median hemoglobin values in these patients were generally low (range 9.5-12.85 g/dL) but not different from those of the nonmenorrhagia group (hemoglobin range 9.55-11.0 g/dL) with glycogen storage disease type I. Four patients with menorrhagia required hospitalization or emergency department visits for treatment of menorrhagia. Two of the four patients hospitalized required blood transfusion, with an additional patient requiring a transfusion during pregnancy. Eight patients (89%) either were recommended to have or required medical or surgical treatment of their menorrhagia. Glycogen storage disease type I is associated with menorrhagia. The evaluation should include assessment of coagulation functions and referral to a gynecologist, hematologist, or both, because bleeding diathesis and polycystic ovary syndrome are common in patients with glycogen storage disease type I.

  4. Type A Behaviours and Heart Disease: Epidemiological and Experimental Foundations

    Directory of Open Access Journals (Sweden)

    Paul Bennett

    1990-01-01

    Full Text Available This paper critically examines three strands of evidence that concern the relationship between type A behaviours and coronary heart disease; prospective epidemiological studies of healthy populations, studies of those at high risk for coronary heart disease, and angiographic studies of atherosclerosis. The first of these would seem to provide the strongest test. Methodological and conceptual issues mean that the results of studies using the other methods should be interpreted with care. It is concluded that there is relatively strong evidence of an association between Type A behaviour as measured by Structured Interview and coronary heart disease. Hostility and anger appear to be the most powerful determinants of CHD. However, it is likely that they interact with other type A behaviours and related environmental factors in determining risk.

  5. Molecular prenatal diagnosis of glycogen storage disease type Ia.

    Science.gov (United States)

    Qu, Y; Abdenur, J E; Eng, C M; Desnick, R J

    1996-04-01

    Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of D-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for prenatal diagnosis. The recent isolation of the G6Pase gene and identification of several disease-causing mutations have permitted molecular prenatal diagnosis using amniocytes or chorionic villi. Chorionic villus sampling (CVS) was performed in an Ashkenazi Jewish family in whom a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis revealed that the fetus was not affected. The prenatal diagnosis was confirmed postnatally by biochemical and molecular studies. Thus, the molecular prenatal diagnosis of GSD type Ia can be safely and accurately made in the first trimester.

  6. Basal Cell Carcinoma in Type 2 Segmental Darier's Disease

    Directory of Open Access Journals (Sweden)

    Lynne Robertson

    2012-01-01

    Full Text Available Background. Darier's disease (DD, also known as Keratosis Follicularis or Darier-White disease, is a rare disorder of keratinization. DD can present as a generalized autosomal dominant condition as well as a localized or segmental postzygotic condition (Vázquez et al., 2002. Clinical features of DD include greasy, warty papules and plaques on seborrheic areas, dystrophic nails, palmo-plantar pits, and papules on the dorsum of the hands and feet. Objective. We report a case of basal cell carcinoma developing in a patient with type 2 segmental DD. Conclusion. According to the current literature, Type 2 segmental disease is a rare presentation of Darier's disease with only 8 previous cases reported to date. In addition, nonmelanoma skin cancer (NMSC arising from DD is rarely reported; however, there may be an association between DD and risk of carcinogenesis.

  7. A case of Niemann – Pick disease type C

    Directory of Open Access Journals (Sweden)

    Sergei Anatolyevich Klyushnikov

    2013-01-01

    Full Text Available The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC, a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of this type of glycosphingolipidosis and on established gene mutations. The clinical polymorphism of NPC and the trends in the development of somatic, mental, and neurological disorders are highlighted in relation to the onset age of the disease. The problem of differential diagnosis is discussed. The diagnostic NPC probability index in scores and the latest methods for laboratory diagnostic verification, including molecular genetic testing, are presented.Information is given on specific substrate reduction therapy with miglustat for NPC.

  8. Beyond PrPres type 1/Type 2 dichotomy in Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    Uro-Coste, E.; Cassard, H.; Simon, S.; Lugan, S.; Bilheude, J.M.; Perret-Liaudet, A.; Ironside, J.E.; Haik, S.; Basset-Leobon, C.; Lacroux, C.; Peoch, K.; Streichenberger, N.; Langeveld, J.P.M.; Head, M.W.; Grassi, J.; Hauw, J.J.; Schelcher, F.; Delisle, M.B.; Andreoletti, O.

    2008-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) cases are currently subclassified according to the methionine/valine polymorphism at codon 129 of the PRNP gene and the proteinase K (PK) digested abnormal prion protein (PrPres) identified on Western blotting (type 1 or type 2). These biochemically distinct

  9. Isomerisation of c4-c6 aldoses with zeolites

    DEFF Research Database (Denmark)

    2014-01-01

    The present invention relates to isomerization of C4-C6 aldoses to their corresponding C4-C6 ketoses. In particular, the invention concerns isomerization of C4-C6 aldoses over solid zeolite catalysts free of any metals other than aluminum, in the presence of suitable solvent(s) at suitable elevat...... in the catalyst. The ketoses obtained are used as sweeteners in the food and/or brewery industry, or treated to obtain downstream platform chemicals such as lactic acid, HMF, levulinic acid, furfural, MMHB, and the like....

  10. Gallstone disease and type-2 diabetes mellitus-the link

    International Nuclear Information System (INIS)

    Olokoba, A.B.; Bojuwoye, B.J.; Olokoba, K.B.; Braimoh, K.T.; Inikori, A.K.

    2007-01-01

    To determine the factors predisposing patients with type-2 diabetes mellitus to gallstone disease. One hundred type 2 diabetic patients and 100 age and gender-matched controls underwent real time ultrasonography to study factors predisposing patients with type 2 diabetes mellitus to gallstone disease. The age, gender, body mass index (BMI), duration of diabetes mellitus and serum lipids were determined in the individuals enrolled for the study. Fifteen percent of the diabetic patients had ultrasound evidence of gallstone disease as compared to 7% in non-diabetic controls. There was a steady increase in the incidence of gallstone disease in diabetic patients with age with a peak incidence in the seventh decade i.e. 60-69 years, and a decline in the eighth decade i.e. 70 - 79 years. The average age of the diabetic patients with gallstone disease - 59.1+ 9.5 years was significantly higher than in those without gallstone disease - 51.8 + 10.5 years (p 0.014). The mean duration of disease in the diabetic patients with gallstone disease was 5.0 + 4.9 years compared with 4.5 + 3.8 years in the diabetic patients without gallstone disease (p=0.772). The mean serum cholesterol and triglyceride levels - 4.3 + 1.3 mmol/L and 1.5 + 0.8 mmol/L respectively in the diabetic patients with gallstone disease was higher than in those without gallstone disease - 3.4 + 0.5 mmol/L (p=0.0941) and 1.4 + 0.7 mmol/L (p=0.712) respectively. The mean body mass index for the diabetic patients with gallstone disease was 26.2 + 5.5 kg /m 2 compared with 25.7 + 6.7 kg/m2 in those without gallstone disease (p=0.755) . Increasing age is a risk factor for gallstone disease in diabetic patients. Hyperlipidaemia, female gender, heavier weight and a longer duration of diabetes mellitus appear to be associated risk factors. (author)

  11. Bowen's Disease Associated With Two Human Papilloma Virus Types.

    Science.gov (United States)

    Eftekhari, Hojat; Gharaei Nejad, Kaveh; Azimi, Seyyede Zeinab; Rafiei, Rana; Mesbah, Alireza

    2017-09-01

    Bowen's disease (BD) is an epidermal in-situ squamous cell carcinoma (SCC). Most Human Papilloma Viruses (HPV)-positive lesions in Bowen's disease are localized to the genital region or distal extremities (periungual sites) in which HPV type-16 is frequently detected. Patient was a 64-year-old construction worker for whom we detected 2 erythematous psoriasiform reticular scaly plaques on peri-umbilical and medial knee. Biopsy established the diagnosis of Bowen's disease and polymerase chain reaction assay showed HPV-6, -18 co-infection. Patient was referred for surgical excision.

  12. Boron carbide (B4C) coating. Deposition and testing

    Science.gov (United States)

    Azizov, E.; Barsuk, V.; Begrambekov, L.; Buzhinsky, O.; Evsin, A.; Gordeev, A.; Grunin, A.; Klimov, N.; Kurnaev, V.; Mazul, I.; Otroshchenko, V.; Putric, A.; Sadovskiy, Ya.; Shigin, P.; Vergazov, S.; Zakharov, A.

    2015-08-01

    Boron carbide was proposed as a material of in-situ protecting coating for tungsten tiles of ITER divertor. To prove this concept the project including investigation of regimes of plasma deposition of B4C coating on tungsten and tests of boron carbide layer in ITER-like is started recently. The paper contends the first results of the project. The results of B4C coating irradiation by the plasma pulses of QSPU-T plasma accelerator are presented. The new device capable of B4C film deposition on tungsten and testing of the films and materials with ITER-like heat loads and ion- and electron irradiation is described. The results of B4C coating deposition and testing of both tungsten substrate and coating are shown and discussed.

  13. Charcot-Marie-Tooth disease complicating type 2 diabetes.

    LENUS (Irish Health Repository)

    Win, Htet Htet Ne

    2012-02-01

    Although both conditions are relatively common, there are very few descriptions of type 2 diabetes mellitus coexisting with Charcot-Marie-Tooth disease (CMT). This case report and literature review describes a 53-year-old Irish man who presented with type 2 diabetes and significant neuropathy, and who was subsequently diagnosed with CMT type 1A. This case report will also discuss how to differentiate diabetic neuropathy from a progressive hereditary neuropathy and how coexistence aggravates the progression of neuropathy thus necessitating early diagnosis.

  14. Charcot-marie-tooth disease complicating type 2 diabetes.

    LENUS (Irish Health Repository)

    Win, Htet Htet Ne

    2011-07-01

    Although both conditions are relatively common, there are very few descriptions of type 2 diabetes mellitus coexisting with Charcot-Marie-Tooth disease (CMT). This case report and literature review describes a 53-year-old Irish man who presented with type 2 diabetes and significant neuropathy, and who was subsequently diagnosed with CMT type 1A. This case report will also discuss how to differentiate diabetic neuropathy from a progressive hereditary neuropathy and how coexistence aggravates the progression of neuropathy thus necessitating early diagnosis.

  15. RENAL COMPLICATIONS IN GLYCOGEN-STORAGE-DISEASE TYPE-I

    NARCIS (Netherlands)

    REITSMABIERENS, WCC

    1993-01-01

    Deficiency of the enzyme glucose-6-phosphatase is the biochemical defect in glycogen storage disease type I (GSD I). Normally this enzyme is present in the liver, intestine and kidneys. The lack of the enzyme in the kidney makes it obvious that glycogen storage will not be restricted to the liver

  16. Association between Diabetes Mellitus type 1 and Celiac Disease ...

    African Journals Online (AJOL)

    Background: Gluten sensitive enteropathy (celiac disease (CD)) has a strong association with diabetes mellitus (type 1DM). Since, 2-3% of CD patients have selective IgA deficiency, the majority of the available tests may fail to show the auto-antibodies (the IgA endomysial antibody (EMA). To prevent such a false negativity, ...

  17. Acute type II cryoglobulinaemic vasculitis mimicking atherosclerotic peripheral vascular disease.

    LENUS (Irish Health Repository)

    Saeed, A

    2012-01-31

    Atherosclerotic peripheral vascular disease is a common presenting cause for digital ischaemia in life long smokers. Acute severe Type II Cryoglobulinaemic vasculitis is a rare yet important cause, which may present with similar clinical features and which if undiagnosed may be rapidly fatal. Following the instigation of therapy with intravenous methylprednisolone and cyclophosphamide this patient made an excellent recovery.

  18. Glycogen storage disease type 3: A management challenge in ...

    African Journals Online (AJOL)

    Glycogen storage disease type 3: A management challenge in pregnancy. OG Okunoye, C Deakin, S Maguire. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for ...

  19. Disturbed lipid metabolism in glycogen storage disease type 1

    NARCIS (Netherlands)

    Bandsma, RHJ; Smit, GPA; Kuipers, F

    2002-01-01

    Glycogen storage disease type 1 (GSD1) is an inborn error of metabolism caused by deficiency of glucose-6-phosphatase, the enzyme catalysing the conversion of glucose-6-phosphate (G6P) to glucose. GSD1 is associated with severe hyperlipidaemia and hepatic steatosis. The underlying mechanisms

  20. Charcot-Marie-Tooth disease type 1A

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Børglum, A D; Brandt, C A

    1994-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients...

  1. Periodontal Disease Part I: Types, Etiology, and Epidemiology

    OpenAIRE

    Anderson, Donald L.

    1988-01-01

    This article comprises four short parts, each one written by a different author. In Part I the author discusses the types, etiology, and epidemiology of periodontal disease. Gingivitis is very common, affecting almost 100% of 14 year olds, while at the other end of the age scale, 50% of 70-year-old North Americans have periodontitis.

  2. Glycogen storage disease type I: clinical and laboratory profile

    Directory of Open Access Journals (Sweden)

    Berenice L. Santos

    2014-11-01

    Conclusions: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.

  3. The cognitive profile of type 1 Gaucher disease patients

    NARCIS (Netherlands)

    Biegstraaten, Marieke; Wesnes, Keith A.; Luzy, Cécile; Petakov, Milan; Mrsic, Mirando; Niederau, Claus; Giraldo, Pilar; Hughes, Derralynn; Mehta, Atul; Mengel, Karl-Eugen; Hollak, Carla E. M.; Maródi, László; van Schaik, Ivo N.

    2012-01-01

    The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in recent years many reports have emerged on neurological manifestations in GD1 patients. Nevertheless, it has been unclear whether cognitive deficits are part of

  4. Types of marriages, population structure and genetic disease.

    Science.gov (United States)

    Machado, T M B; Bomfim, T F; Souza, L V; Soares, N; Santos, F L; Acosta, A X; Abe-Sandes, K

    2013-07-01

    A high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population of Monte Santo, Bahia, Brazil, has a high frequency of rare genetic diseases such as mucopolysaccharidosis type VI, whose observed frequency in this population is 1:5000, while the incidence of this disease recorded in other regions of the world varies from 1:43,261 in Turkey to 1:1,505,160 in Switzerland. To verify the influence of consanguineous marriage on the increased frequency of observed genetic diseases in this population, the population structure and frequency of different types of marriage during different time periods were evaluated. A total of 9765 marriages were found in an analysis of parish marriage records from the city. Over three periods, 1860-1895, 1950-1961 and 1975-2010, the inbreeding rates were 37.1%, 13.2% and 4.2% respectively. Although there was a high rate of inbreeding, endogamic marriages were the dominant marriage type in all three periods. In the most recent period, there was an increase in the number of exogamous marriages and those among immigrants, but most of these occurred among individuals from cities that neighbour Monte Santo. The low rate of migration and high frequency of endogamic and consanguineous marriages show that growth of this population is predominantly internal and could explain the occurrence, and increase in frequency, of recessive genetic diseases in the city.

  5. CHIMERISM AFTER LIVER TRANSPLANTATION FOR TYPE IV GLYCOGEN STORAGE DISEASE AND TYPE 1 GAUCHER’S DISEASE

    Science.gov (United States)

    Starzl, Thomas E.; Demetris, Anthony J.; Trucco, Massimo; Ricordi, Camillo; Ildstad, Suzanne; Terasaki, Paul I.; Murase, Noriko; Kendall, Ross S.; Kocova, Mirjana; Rudert, William A.; Zeevi, Adriana; Van Thiel, David

    2010-01-01

    Background Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known. Methods We studied two patients with type IV glycogen storage disease 37 and 91 months after liver transplantation and a third patient with lysosomal glucocerebrosidase deficiency (type 1 Gaucher’s disease), in whom tissue glucocerebroside deposition had decreased 26 months after liver replacement, to determine whether the migration of cells from the allograft (microchimerism) could explain the improved metabolism of enzyme-deficient tissues in the recipient. Samples of blood and biopsy specimens of the skin, lymph nodes, heart, bone marrow, or intestine were examined immunocytochemically with the use of donor-specific monoclonal anti-HLA antibodies and the polymerase chain reaction, with preliminary amplification specific to donor alleles of the gene for the beta chain of HLA-DR molecules, followed by hybridization with allele-specific oligonucleotide probes. Results Histopathological examination revealed that the cardiac deposits of amylopectin in the patients with glycogen storage disease and the lymph-node deposits of glucocerebroside in the patient with Gaucher’s disease were dramatically reduced after transplantation. Immunocytochemical analysis showed cells containing the HLA phenotypes of the donor in the heart and skin of the patients with glycogen storage disease and in the lymph nodes, but not the skin, of the patient with Gaucher’s disease. Polymerase-chain-reaction analysis demonstrated donor HLA-DR DNA in the heart of both patients with glycogen storage disease, in the skin of one of them, and in the skin, intestine, blood, and bone marrow of the patient with Gaucher’s disease. Conclusions Systemic microchimerism occurs after liver allotransplantation and can ameliorate pancellular enzyme deficiencies. PMID:8437594

  6. [Renal involvement in glycogen storage disease type 1: Practical issues].

    Science.gov (United States)

    Ben Chehida, Amel; Bensmaïl, Takoua; Ben Rehouma, Faten; Ben Abdelaziz, Rim; Azzouz, Hatem; Boudabbous, Hela; Slim Abdelmoula, Mohamed; Abdelhak, Sonia; Kaabachi, Naziha; Ben Turkia, Hadhami; Tebib, Néji

    2015-07-01

    To investigate risk factors of renal complications in glycogen storage disease type I, in order to identify practical implications for renal preservation. A retrospective study of 38 patients with glycogen storage disease type I. The patients studied were 8.6 years old in average (1.5 to 22 years) and were followed during 7.4 ± 4.5 years. Hypercalciuria was detected in 23 patients and was related to acidosis (P=0.028), higher lactate levels (5.9 ± 3.5 versus 3.7 ± 1.7 mmol/L; P=0.013) and smaller height (-2.1 ± 1.5 SD versus -0.8 ± 1.5 SD; P=0.026). Urolithiasis was diagnosed in 7 cases. Glomerular disease (19/38) was more frequent in cases with severe hypertriglyceridemia (P=0.042) and occurred at an older age (P=0.007). Microalbuminuria occurred in 15/31 cases; ACE inhibitors were prescribed in only 8 cases. The frequency of renal complications did not differ according to the diet group (continuous enteral feeding or uncooked starch). Logistic regression concluded as risk factors: lactic acidosis for tubular disease and age>10 years for glomerular disease. Renal involvement is common in glycogen storage disease type I patients. Tubular abnormalities are precocious, related to lactic acidosis and may be detected by monitoring of urinary calcium. Glomerular hyperfiltration is the first stage of a progressive glomerular disease and is related to age. Practical implications for renal preservation are discussed based on our results and literature. Copyright © 2015 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  7. Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

    Directory of Open Access Journals (Sweden)

    Rachel D. Torok MD

    2017-05-01

    Full Text Available Pulmonary arterial hypertension (PAH is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI. We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.

  8. Guidelines for management of glycogen storage disease type I - European study on glycogen storage disease type I (ESGSD I)

    NARCIS (Netherlands)

    Rake, JP; Visser, G; Labrune, P; Leonard, JV; Ullrich, K; Smit, GPA

    2002-01-01

    Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods

  9. Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

    NARCIS (Netherlands)

    Visser, G; Rake, JP; Labrune, P; Leonard, JV; Moses, S; Ullrich, K; Wendel, U; Smit, GPA

    2002-01-01

    Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in

  10. Inhibitor scaffold for the histone lysine demethylase KDM4C (JMJD2C)

    DEFF Research Database (Denmark)

    Leurs, Ulrike; Clausen, Rasmus P; Kristensen, Jesper L

    2012-01-01

    The human histone demethylases of the KDM4 (JMJD2) family have been associated to diseases such as prostate and breast cancer, as well as X-linked mental retardation. Therefore, these enzymes are considered oncogenes and their selective inhibition might be a possible therapeutic approach to treat...... cancer. Here we describe a heterocyclic ring system library screened against the histone demethylase KDM4C (JMJD2C) in the search for novel inhibitory scaffolds. A 4-hydroxypyrazole scaffold was identified as an inhibitor of KDM4C; this scaffold could be employed in the further development of novel...

  11. Molecular Genetics of Type 1 Glycogen Storage Diseases.

    Science.gov (United States)

    Yang Chou J; Mansfield

    1999-04-01

    Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is caused by a deficiency in the activity of the enzyme glucose-6-phosphatase (G6Pase). It is an autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia and hyperuricemia. The disease presents with both clinical and biochemical heterogeneity consistent with the existence of two major subgroups, GSD-1a and GSD-1b, which have been confirmed at the molecular genetic level. GSD-1a, the most prevalent form, is caused by mutations in the G6Pase gene that abolish or greatly reduce enzymatic activity. The gene maps to chromosome 17q21 and encodes a microsomal transmembrane protein. Animal models of GSD-1a exist and are being exploited to delineate the disease more precisely. It has been proposed that GSD-1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene responsible for GSD-1b has been mapped to chromosome 11q23 and a cDNA encoding a microsomal transmembrane protein has been identified. The function of this putative GSD-1b protein remains to be determined. These recent developments, along with newly characterized animal models of GSD-1a, are increasing our understanding of the interrelationship between the components of the G6Pase complex and type 1 glycogen storage diseases.

  12. Effect of secondary phases on the properties of B4C-Al composites

    International Nuclear Information System (INIS)

    Sarikaya, M.; Pysik, A.J.; Ilsay, I.A.; Snowden, W.E.

    1985-01-01

    Various secondary phases form during the processing of B 4 C-Al composites depending on the processing variables. The type and distribution of these phases are indicated by the reactions which take place during the densification process. Microstructures of the samples prepared under different processing conditions are investigated and correlated with the mechanical properties

  13. Prevalence of Gastroesophageal Reflux Disease in Type II Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Huihui Sun

    2014-01-01

    Full Text Available Background/Aims. Patients with type II diabetes mellitus (DM were known to have higher prevalence of gastroesophageal reflux disease (GERD in the Western countries, but data on the impact of GERD on DM patients in our country are scarce. The aim of this study was to evaluate the prevalence of GERD in type II DM patients in Shanghai, China, and to explore its possible risk factors. Methods. 775 type II DM cases were randomly collected. Reflux Disease Questionnaire (RDQ was used to check the presence of GERD. Patients’ characteristics, laboratory data, face-to-face interview, nerve conduction study, and needle electromyogram (EMG test were analyzed. Results. 16% patients were found with typical GERD symptoms. Pathophysiological factors such as peripheral neuropathy, metabolism syndrome, and obesity were found to have no significant differences between GERD and non-GERD type II DM patients in the present study. Conclusion. The prevalence of GERD in type II DM patients is higher than that in adult inhabitants in Shanghai, China. No difference in pathophysiological factors, such as peripheral neuropathy, and metabolism syndrome was found in DM-GERD patients, suggesting that further study and efforts are needed to explore deeper the potential risk factors for the high prevalence rate of GERD in DM patients.

  14. The Myers-Briggs type indicator and coronary heart disease.

    Science.gov (United States)

    Thorne, B M; Fyfe, J H; Carskadon, T G

    1987-01-01

    Researchers have for many years attempted to establish a relationship between coronary heart disease (CHD) and personality type. In our study, 103 subjects completed Form G of the Myers-Briggs Type Indicator (MBTI). Comparisons were made between 93 CHD patients and an age-appropriate control group (Group C) on each of the four MBTI dimensions: Extraversion-Introversion, Sensing-Intuition, Thinking-Feeling, and Judging-Perceiving. The comparison between CHD patients and Group C showed that CHD patients were significantly more likely to prefer sensing and feeling.

  15. [Type 2 diabetes mellitus and chronic kidney disease].

    Science.gov (United States)

    Ponťuch, Peter

    The number of type 2 diabetic patients is increasing world-wide and a prediction of prevalence of chronic kidney disease up to 2025 in European diabetic population is alarming. Albuminuria and estimated glomerular filtration rate are cardinal biochemical parameters in diagnostics of diabetic nephropathy. Following diagnostic methods are also used: renal ultrasonography, ophthalmoscopy and in not clarified cases renal biopsy. Long-term optimal glycemic control, efficient antihypertensive treatment by angiotensin converting enzyme inhibitor, or angiotensin receptor blocker and recommended protein intake is a cornerstone of therapy. The research is presently focused on new pathophysiological mechanisms, as analysis of genome, microRNA, kidney injury biomarkers and proteomes.Key words: chronic kidney disease - type 2 diabetes mellitus.

  16. A Rare Form of Chronic Granulomatous Disease (Type Iva Presenting as Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Francisco A Sylvester

    1996-01-01

    Full Text Available Neutrophil dysfunction syndromes can sometimes mimic the clinical and pathological features of inflammatory bowel disease. The case of a 3.5-year-old boy with chronic diarrhea, abdominal pain, poor growth since infancy and microcytic, hypochromic anemia is presented. After an extensive diagnostic evaluation, he was found to have a rare variant (type IVA of chronic granulomatous disease. His gastrointestinal symptoms markedly improved during therapy with gamma-interferon. Chronic granulomatous disease can present initially with a clinical picture suggestive of chronic intestinal inflammation. Therefore it should be considered in the differential diagnosis of atypical inflammatory bowel disease, both in children and young adults.

  17. Aggressive therapy improves cirrhosis in glycogen storage disease type IX.

    Science.gov (United States)

    Tsilianidis, Laurie A; Fiske, Laurie M; Siegel, Sara; Lumpkin, Chris; Hoyt, Kate; Wasserstein, Melissa; Weinstein, David A

    2013-06-01

    Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Bone turnover markers in patients with type 1 Gaucher disease

    Directory of Open Access Journals (Sweden)

    Gaetano Giuffrida

    2012-11-01

    Full Text Available Bone complications occur frequently in Gaucher disease (GD and reduce the quality of life of these patients. Skeletal involvement is an important indication for treatment to ameliorate symptoms and reduce the risk of irreversible and debilitating disease. Bone biomarkers have been used to assess disease status and the response to therapy in a number of bone disorders. Here, we examine the literature for evidence of abnormalities in bone turnover markers in patients with type 1 GD to assess whether they might be useful for the assessment of bone involvement in GD. We have found that bone biomarkers in GD show highly variable results which do not currently support their routine use for clinical assessment of bone status, as an indication for therapy initiation, or for monitoring the response to therapy. A greater understanding of bone markers and their relation to the bone manifestations of GD is required.

  19. Type 2 diabetes mellitus in the pathophysiology of Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Aparecida Marcelino de Nazareth

    Full Text Available ABSTRACT Both Alzheimer's disease (AD and type 2 diabetes mellitus (DM are two common forms of disease worldwide and many studies indicate that people with diabetes, especially DM, are at higher risk of developing AD. AD is characterized by progressive cognitive decline and accumulation of β-amyloid (Aβ forming senile plaques. DM is a metabolic disorder characterized by hyperglycemia in the context of insulin resistance and relative lack of insulin. Both diseases also share common characteristics such as loss of cognitive function and inflammation. Inflammation resulting from Aβ further induces production of Aβ1-42 peptides. Inflammation due to overnutrition induces insulin resistance and consequently DM. Memory deficit and a decrease in GLUT4 and hippocampal insulin signaling have been observed in animal models of insulin resistance. The objective of this review was to show the shared characteristics of AD and DM.

  20. Natural Progression of Canine Glycogen Storage Disease Type IIIa.

    Science.gov (United States)

    Brooks, Elizabeth D; Yi, Haiqing; Austin, Stephanie L; Thurberg, Beth L; Young, Sarah P; Fyfe, John C; Kishnani, Priya S; Sun, Baodong

    2016-02-01

    Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. A naturally occurring canine model of GSD IIIa that mimics the human disease has been described, with progressive liver disease and skeletal muscle damage likely due to excess glycogen deposition. In the current study, long-term follow-up of previously described GSD IIIa dogs until 32 mo of age (n = 4) and of family-owned GSD IIIa dogs until 11 to 12 y of age (n = 2) revealed that elevated concentrations of liver and muscle enzyme (AST, ALT, ALP, and creatine phosphokinase) decreased over time, consistent with hepatic cirrhosis and muscle fibrosis. Glycogen deposition in many skeletal muscles; the tongue, diaphragm, and heart; and the phrenic and sciatic nerves occurred also. Furthermore, the urinary biomarker Glc4, which has been described in many types of GSD, was first elevated and then decreased later in life. This urinary biomarker demonstrated a similar trend as AST and ALT in GSD IIIa dogs, indicating that Glc4 might be a less invasive biomarker of hepatocellular disease. Finally, the current study further demonstrates that the canine GSD IIIa model adheres to the clinical course in human patients with this disorder and is an appropriate model for developing novel therapies.

  1. Interpersonal traits change as a function of disease type and severity in degenerative brain diseases

    Science.gov (United States)

    Sollberger, Marc; Neuhaus, John; Ketelle, Robin; Stanley, Christine M.; Beckman, Victoria; Growdon, Matthew; Jung, Jang; Miller, Bruce L.; Rankin, Katherine P.

    2010-01-01

    Background Different degenerative brain diseases result in distinct personality changes as a result of divergent patterns of brain damage, however, little is known about the natural history of these personality changes throughout the course of each disease. Objective To investigate how interpersonal traits change as a function of degenerative brain disease type and severity. Methods Using the Interpersonal Adjective Scales, informant ratings of retrospective premorbid and current scores for dominance, extraversion, warmth, and ingenuousness were collected annually for one to four years on 188 patients [67 behavioural variant frontotemporal dementia (bvFTD), 40 semantic dementia (SemD), 81 Alzheimer’s disease (AD)] and 65 older healthy controls. Using random coefficient models, interpersonal behaviour scores at very mild, mild, or moderate-to-severe disease stages were compared within and between patient groups. Results Group-level changes from premorbid personality occurred as a function of disease type and severity, and were apparent even at a very mild disease stage (Clinical Dementia Rating=0.5) for all three diseases. Decreases in interpersonal traits associated with emotional affiliation (i.e., extraversion, warmth, and ingenuousness) and more rigid interpersonal behaviour differentiated bvFTD and SemD patients from AD patients. Conclusions Specific changes in affiliative interpersonal traits differentiate degenerative brain diseases even at a very mild disease stage, and patterns of personality change differ across bvFTD, SemD, and AD with advancing disease. This study describes the typical progression of change of interpersonal traits in each disease, improving the ability of clinicians and caregivers to predict and plan for symptom progression. PMID:21172858

  2. Interpersonal traits change as a function of disease type and severity in degenerative brain diseases.

    Science.gov (United States)

    Sollberger, Marc; Neuhaus, John; Ketelle, Robin; Stanley, Christine M; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Miller, Bruce L; Rankin, Katherine P

    2011-07-01

    Different degenerative brain diseases result in distinct personality changes as a result of divergent patterns of brain damage; however, little is known about the natural history of these personality changes throughout the course of each disease. To investigate how interpersonal traits change as a function of degenerative brain disease type and severity. Using the Interpersonal Adjective Scales, informant ratings of retrospective premorbid and current scores for dominance, extraversion, warmth and ingenuousness were collected annually for 1 to 4 years on 188 patients (67 behavioural variant frontotemporal dementia (bvFTD), 40 semantic dementia (SemD), 81 Alzheimer's disease (AD)) and 65 older healthy controls. Using random coefficient models, interpersonal behaviour scores at very mild, mild or moderate-to-severe disease stages were compared within and between patient groups. Group-level changes from premorbid personality occurred as a function of disease type and severity, and were apparent even at a very mild disease stage (Clinical Dementia Rating=0.5) for all three diseases. Decreases in interpersonal traits were associated with emotional affiliation (ie, extraversion, warmth and ingenuousness) and more rigid interpersonal behaviour differentiated bvFTD and SemD patients from AD patients. Specific changes in affiliative interpersonal traits differentiate degenerative brain diseases even at a very mild disease stage, and patterns of personality change differ across bvFTD, SemD and AD with advancing disease. This study describes the typical progression of change of interpersonal traits in each disease, improving the ability of clinicians and caregivers to predict and plan for symptom progression.

  3. Role of HLA typing on Crohn's disease pathogenesis

    Directory of Open Access Journals (Sweden)

    Batool Mutar Mahdi

    2015-09-01

    Full Text Available Crohn's disease (CD is the main type of chronic inflammatory bowel disease of unknown etiology. Evidence from family and twin studies suggests that genetics plays a significant role in predisposing an individual to develop Crohn's disease. A susceptibility locus for Crohn's disease has been mapped 3 to chromosome 16: a frameshift variant and two missense variants of NOD2, encoding a member of the Apaf-1/Ced-4 superfamily of apoptosis regulators which is expressed in hematopoietic compartment cells and intestinal epithelial cells as well as in paneth cells, where NOD2 may play an important role in the pathogenesis of Crohn disease in the gastrointestinal system. This leads to alteration the structure of either the leucine-rich repeat domain of the protein or the adjacent region. NOD2 activates nuclear factor NF-kB; this activating function is regulated by the carboxy-terminal leucine-rich repeat domain, which has two functions, first an inhibitory role and also acts as an intracellular receptor for components of microbial pathogens. Thus, NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in intestinal epithelial cells as well as in paneth cells. Further confirmation of a genetic predisposition comes from studies of the association between the human leukocyte antigen (HLA system and CD. The immunogenetic predisposition may be considered an important requirement for the development of CD, as several alleles of human major histocompatibility complex had an association with CD. Although it is difficult to estimate the importance of this region in determining overall genetic susceptibility in a population, studies of HLA allele sharing within families suggest that this region contributes between 10% and 33% of the total genetic risk of Crohn's disease.

  4. Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.

    Directory of Open Access Journals (Sweden)

    Eugénie Ansseau

    Full Text Available Hundreds of double homeobox (DUX genes map within 3.3-kb repeated elements dispersed in the human genome and encode DNA-binding proteins. Among these, we identified DUX4, a potent transcription factor that causes facioscapulohumeral muscular dystrophy (FSHD. In the present study, we performed yeast two-hybrid screens and protein co-purifications with HaloTag-DUX fusions or GST-DUX4 pull-down to identify protein partners of DUX4, DUX4c (which is identical to DUX4 except for the end of the carboxyl terminal domain and DUX1 (which is limited to the double homeodomain. Unexpectedly, we identified and validated (by co-immunoprecipitation, GST pull-down, co-immunofluorescence and in situ Proximal Ligation Assay the interaction of DUX4, DUX4c and DUX1 with type III intermediate filament protein desmin in the cytoplasm and at the nuclear periphery. Desmin filaments link adjacent sarcomere at the Z-discs, connect them to sarcolemma proteins and interact with mitochondria. These intermediate filament also contact the nuclear lamina and contribute to positioning of the nuclei. Another Z-disc protein, LMCD1 that contains a LIM domain was also validated as a DUX4 partner. The functionality of DUX4 or DUX4c interactions with cytoplasmic proteins is underscored by the cytoplasmic detection of DUX4/DUX4c upon myoblast fusion. In addition, we identified and validated (by co-immunoprecipitation, co-immunofluorescence and in situ Proximal Ligation Assay as DUX4/4c partners several RNA-binding proteins such as C1QBP, SRSF9, RBM3, FUS/TLS and SFPQ that are involved in mRNA splicing and translation. FUS and SFPQ are nuclear proteins, however their cytoplasmic translocation was reported in neuronal cells where they associated with ribonucleoparticles (RNPs. Several other validated or identified DUX4/DUX4c partners are also contained in mRNP granules, and the co-localizations with cytoplasmic DAPI-positive spots is in keeping with such an association. Large muscle RNPs

  5. Charcot-Marie-Tooth Disease Type 2B

    Directory of Open Access Journals (Sweden)

    Şenay Durdu

    2009-06-01

    Full Text Available Chatcot-Marie-Tooth (CMT is also known as peroneal muscular atrophy and hereditary motor-sensory neuropathy (HMSN. It is the most commonly encountered inherited peripheral neuropathy. Actually, CMT is not a single disease, but is a group of disorders with similar symptoms. CMT type 2 is the second most common form after CMT type1. Symptoms usually begin in childhood or early adulthood. Mostly the peripheral nerves of the lower extremities and occasionaly upper extremities may be affected. Motor nerve involvoment induces distal muscle weakness and atrophy in the lower extremities that may result in foot deformities known as foot drop, pes cavus, pes planus, hammer toe etc. As a result of sensorial nevre degeneration, callus, recurrent foot ulcers, osteonecrosis, osteolysis and spontaneous amputation may accompany the disease. The speed of nerve conduction is not changed in the EMG, but axonal type sensorymotor semptoms that lead to a decrease of amplitude. We report here a 55 year old man with recurrent foot ulcers for 33 years and self amputations, whose EMG findings suggest acsonal neuropathy and who also has a 20 year - old son with similar complaints.

  6. Complex lipid trafficking in Niemann-Pick disease type C.

    Science.gov (United States)

    Vanier, Marie T

    2015-01-01

    Niemann-Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is above all a neurodegenerative disease in the vast majority of patients. Not an enzyme deficiency, it is currently conceived as a lipid trafficking disorder. Impaired egress of cholesterol from the late endosomal/lysosomal (LE/L) compartment is a specific and key element of the pathogenesis, but other lipids, more specially sphingolipids, are also involved, and there are indications for further abnormalities. The full function of the NPC1 and NPC2 proteins is still unclear. This review provides a reappraisal of lipid storage and lysosomal enzymes activities in tissues/cells from NPC patients and animal models. It summarizes the current knowledge on the NPC1 and NPC2 proteins and their function in transport of cholesterol within the late endosomal-lysosomal compartment, with emphasis on differences between systemic organs and the brain; it also discusses regulation by membrane lipids of the NPC2-mediated cholesterol trafficking, interplay between cholesterol and sphingomyelin, the metabolic origin of glycosphingolipids stored in brain, and the putative role of free sphingoid bases in pathogenesis. Brief mention is finally made of diseases affecting other genes that were very recently shown to impact the "NPC pathway".

  7. Mouse model of glycogen storage disease type III.

    Science.gov (United States)

    Liu, Kai-Ming; Wu, Jer-Yuarn; Chen, Yuan-Tsong

    2014-04-01

    Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of the glycogen debranching enzyme (GDE), which is encoded by the Agl gene. GDE deficiency leads to the pathogenic accumulation of phosphorylase limit dextrin (PLD), an abnormal glycogen, in the liver, heart, and skeletal muscle. To further investigate the pathological mechanisms behind this disease and develop novel therapies to treat this disease, we generated a GDE-deficient mouse model by removing exons after exon 5 in the Agl gene. GDE reduction was confirmed by western blot and enzymatic activity assay. Histology revealed massive glycogen accumulation in the liver, muscle, and heart of the homozygous affected mice. Interestingly, we did not find any differences in the general appearance, growth rate, and life span between the wild-type, heterozygous, and homozygous affected mice with ad libitum feeding, except reduced motor activity after 50 weeks of age, and muscle weakness in both the forelimb and hind legs of homozygous affected mice by using the grip strength test at 62 weeks of age. However, repeated fasting resulted in decreased survival of the knockout mice. Hepatomegaly and progressive liver fibrosis were also found in the homozygous affected mice. Blood chemistry revealed that alanine transaminase (ALT), aspartate transaminase (AST) and alkaline phosphatase (ALP) activities were significantly higher in the homozygous affected mice than in both wild-type and heterozygous mice and the activity of these enzymes further increased with fasting. Creatine phosphokinase (CPK) activity was normal in young and adult homozygous affected mice. However, the activity was significantly elevated after fasting. Hypoglycemia appeared only at a young age (3 weeks) and hyperlipidemia was not observed in our model. In conclusion, with the exception of normal lipidemia, these mice recapitulate human GSD IIIa; moreover, we found that repeated fasting was detrimental to these mice. This mouse model will

  8. Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

    Science.gov (United States)

    Wong, Evelyn M; Lehman, Anna; Acott, Philip; Gillis, Jane; Metzger, Daniel L; Sirrs, Sandra

    2017-01-01

    Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles. We describe hypogonadotropic hypogonadism as a novel complication in glycogen storage disease (GSD) type 1. Case Studies and Methods: Four unrelated patients with GSD 1a (N = 1) and 1b (N = 3) were found to have hypogonadotropic hypogonadism diagnosed at different ages. Institutional Research Ethics Board approval was obtained as appropriate. Participant consent was obtained. A retrospective chart review was performed and clinical symptoms and results of investigations summarized as a case series. All patients were confirmed biochemically to have low luteinizing hormone (LH) and follicular stimulating hormone (FSH), and correspondingly low total testosterone. Clinical symptoms of hypogonadism varied widely. Investigations for other causes of hypogonadotropic hypogonadism were unremarkable. In addition, all patients were found to have disproportionately low bone mineral density at the lumbar spine compared to the hip. Common to all patients was erratic metabolic control, including recurrent hypoglycemia and elevated lactate levels. Recurrent elevations in cortisol in response to hypoglycemia may be the underlying pathology leading to suppression of gonadotropin-releasing hormone (GnRH) release. Incorporating clinical and/or biochemical screening of the hypothalamic-pituitary-gonadal axis may be important in the management of this disease. Testosterone therapy however needs to be carefully considered because of the risk of hepatic adenomas.

  9. Investigation of addition of B 4C particles coated by nano-TiB II on microstructure and mechanical behavior of Al-B 4C composites

    Science.gov (United States)

    Abdizadeh, H.; Baharvandi, H. R.; Jebelli, F. B.; Ehsani, N.

    2007-07-01

    In this research, a casting system was designed for manufacturing Al-B 4C composites in 5, 10 and 15 vol.%B 4C, while two types of particles (non coated and coated with nano-TiB II by sol-gel method) were added at 800 and 1000°C. The resulting composites were tested for their mechanical properties and microstructure to study the effect of coating and temperature parameters. Mechanical properties such as tensile strength and hardness were higher in the case of coated particles in 1000°C, compared to the similar samples in 800°C and also the composites with non coated particles. It is also observed that these properties improve with increasing the fraction of particles (up to 10 vol.%). X-ray diffraction studies also confirmed the effective role of coating in appearing of boron carbide peak in diffraction patterns. Additionally, the distribution of B 4C particles in the matrix is found to be more uniform in samples with coated particles. The wetability of particles with molten alloy was also improved. In general, the results show that manufacturing these composites by vortex method in case of using non coated boron carbide powders is not successful, while coating with nano-TiB II and increasing casting temperature can improve the wetability and consequently the incorporation of particles.

  10. Beyond PrPres Type 1/Type 2 Dichotomy in Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Simon, Stéphanie; Lugan, Séverine; Bilheude, Jean-Marc; Perret-Liaudet, Armand; Ironside, James W.; Haik, Stéphane; Basset-Leobon, Christelle; Lacroux, Caroline; Peoch', Katell; Streichenberger, Nathalie; Langeveld, Jan; Head, Mark W.; Grassi, Jacques; Hauw, Jean-Jacques; Schelcher, Francois; Delisle, Marie Bernadette; Andréoletti, Olivier

    2008-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) cases are currently subclassified according to the methionine/valine polymorphism at codon 129 of the PRNP gene and the proteinase K (PK) digested abnormal prion protein (PrPres) identified on Western blotting (type 1 or type 2). These biochemically distinct PrPres types have been considered to represent potential distinct prion strains. However, since cases of CJD show co-occurrence of type 1 and type 2 PrPres in the brain, the basis of this classification system and its relationship to agent strain are under discussion. Different brain areas from 41 sCJD and 12 iatrogenic CJD (iCJD) cases were investigated, using Western blotting for PrPres and two other biochemical assays reflecting the behaviour of the disease-associated form of the prion protein (PrPSc) under variable PK digestion conditions. In 30% of cases, both type 1 and type 2 PrPres were identified. Despite this, the other two biochemical assays found that PrPSc from an individual patient demonstrated uniform biochemical properties. Moreover, in sCJD, four distinct biochemical PrPSc subgroups were identified that correlated with the current sCJD clinico-pathological classification. In iCJD, four similar biochemical clusters were observed, but these did not correlate to any particular PRNP 129 polymorphism or western blot PrPres pattern. The identification of four different PrPSc biochemical subgroups in sCJD and iCJD, irrespective of the PRNP polymorphism at codon 129 and the PrPres isoform provides an alternative biochemical definition of PrPSc diversity and new insight in the perception of Human TSE agents variability. PMID:18389084

  11. Egg consumption, cardiovascular diseases and type 2 diabetes

    DEFF Research Database (Denmark)

    Geiker, Nina Rica Wium; Lytken Larsen, Mogens; Dyerberg, Jørn

    2018-01-01

    ) and type 2 diabetes (T2D) an even more restricted consumption. The aim of the present paper was to assess the recommendation to lower the dietary intake of cholesterol and especially the intake of egg to reduce the risk of CVD and T2D. We performed three web-based literature searches on human studies......Eggs are rich in nutrients and a source of essential fatty- and amino acids, and the food item with highest cholesterol content. Since the 1970s dietary recommendations have advised limiting egg intake to 2-4 a week for the healthy population, and in those diagnosed with cardiovascular disease (CVD...

  12. Diagnosis and Management of Type 2 Diabetic Kidney Disease.

    Science.gov (United States)

    Doshi, Simit M; Friedman, Allon N

    2017-08-07

    Type 2 diabetic kidney disease (DKD) is the most common cause of CKD and ESRD worldwide, and carries with it enormous human and societal costs. The goal of this review is to provide an update on the diagnosis and management of DKD based on a comprehensive review of the medical literature. Topics addressed include the evolving presentation of DKD, clinical differentiation of DKD from non-DKD, a state-of-the-art evaluation of current treatment strategies, and promising emerging treatments. It is expected that the review will help clinicians to diagnose and manage patients with DKD. Copyright © 2017 by the American Society of Nephrology.

  13. Altered Expression of Type-1 and Type-2 Cannabinoid Receptors in Celiac Disease

    Science.gov (United States)

    Di Tommaso, Monia; Biancheri, Paolo; Rapino, Cinzia; Giuffrida, Paolo; Papadia, Cinzia; Montana, Chiara; Pasini, Alessandra; Vanoli, Alessandro; Lanzarotto, Francesco; Villanacci, Vincenzo

    2013-01-01

    Anandamide (AEA) is the prominent member of the endocannabinoid family and its biological action is mediated through the binding to both type-1 (CB1) and type-2 (CB2) cannabinoid receptors (CBR). The presence of AEA and CBR in the gastrointestinal tract highlighted their pathophysiological role in several gut diseases, including celiac disease. Here, we aimed to investigate the expression of CBR at transcriptional and translational levels in the duodenal mucosa of untreated celiac patients, celiac patients on a gluten-free diet for at least 12 months and control subjects. Also biopsies from treated celiac patients cultured ex vivo with peptic-tryptic digest of gliadin were investigated. Our data show higher levels of both CB1 and CB2 receptors during active disease and normal CBR levels in treated celiac patients. In conclusion, we demonstrate an up-regulation of CB1 and CB2 mRNA and protein expression, that points to the therapeutic potential of targeting CBR in patients with celiac disease. PMID:23620805

  14. Sintering of B4C by pressureless liquid phase sintering

    International Nuclear Information System (INIS)

    Rocha, Rosa Maria da; Melo, Francisco Cristovao Lourenco de

    2009-01-01

    The effect of three different sintering additive systems on densification of boron carbide powder was investigated. The sintering additives were Al 2 O 3 :Y 2 O 3 , AlN:Y 2 O 3 and BN:Y 2 O 3 compositions. Powder mixtures were prepared with 10 vol% of sintering aids following conventional powder technology processes. Samples were sintered by pressureless sintering at 2050 deg C/30min in argon atmosphere. Sintered samples were compared to a sintered B 4 C without sintering additive. Samples were characterized by XRD to analyze the crystalline phases after sintering and SEM to observe the microstructure and the second phase distribution. YB 4 and YB 2 C 2 were identified in all samples, indicating a reaction between Y 2 O 3 , B 4 C and B 2 O 3 present at the B 4 C particle surface. The best densification result was achieved with Al 2 O 3 :Y 2 O 3 additive system, showing 92.0 % of theoretical density, low porosity and 15.2 % of linear shrinkage. But this sample showed the highest weight loss. (author)

  15. Type 2 diabetes mellitus and periodontal disease severity.

    Science.gov (United States)

    Al-Khabbaz, Areej K

    2014-01-01

    The aim of this cross-sectional study was to determine whether type 2 diabetes is coupled with increased severity of periodontal destruction. A total of 80 subjects with type 2 diabetes and 78 healthy control subjects underwent a fullmouth periodontal examination. The study included dentate subjects with a minimum of 7 remaining teeth in each dental arch. Plaque score, bleeding on probing and clinical attachment loss were assessed. Diabetic patients showed a significantly lower percent of plaque-positive surfaces (P = 0.02) with a significant increase in the number and the percent of sites with clinical attachment loss ≥ 3 mm compared to controls. In the logistic regression analysis, age and diabetes were found to be associated with having > 15% sites with clinical attachment loss > 5 mm. There was a significant correlation between diabetes duration and the severity of periodontal attachment loss. Patients with type 2 diabetes were at higher risk of having severe forms of periodontal disease compared with non-diabetic subjects. The results highlight the need for frequent supportive periodontal care for patients diagnosed with type 2 diabetes mellitus.

  16. Identification of mutations in Type IV glycogen storage disease

    Energy Technology Data Exchange (ETDEWEB)

    Bao, Y.; Kishnani, P.; Chen, Y.T. [Duke Univ. Medical Center, Durham, NC (United States)] [and others

    1994-09-01

    Type IV glycogen storage disease (GSD IV, Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE) activity, which results in the accumulation of glycogen with unbranched, long, outer chains in the tissues. The molecular basis of the disease is not known. We studied four patients with the disease; three with typical presentation of progressive liver cirrhosis and failure, and one with severe and fatal neonatal hypotonia and cardiomyopathy. Southern blot analysis with EcoRI or MspI did not detect gross DNA rearrangement, deletion or duplication in patients` glycogen branching enzyme genes. Northern analysis with total cellular RNAs isolated from skin fibroblast MI strains of three patients with typical clinical presentation showed a normal level and size (2.95 kb) of GBE mRNA hybridization band in two and absent mRNA hybridization band in the remaining one. The patient with atypical severe neonatal hypotonia demonstrated a less intense and smaller size (2.75 kb) of mRNA hybridization band. A 210 hp deletion from nucleotide sequence 873 to 1082 which causes 70 amino acids missing from amino acid sequence 262 to 331 was detected in all 17 clones sequenced from the fatal hypotonia patient. This deletion is located in the region which is highly conserved between prokaryotic, yeast and human GBE polypeptide sequences, and also includes the first of the four regions which constitute the catalytic active sites of most of amylolytic enzymes. A point mutation C-T (1633) which changes the amino acid from Arginine to Cystine was found in 19 of 20 cDNA clones from a patient with classical clinical presentation. This point mutation was unique to this patient and was not observed in three other patients or normal controls. This is the first report on the molecular basis of GSD IV and our data indicated the presence of extensive genetic heterogeneity in the disease.

  17. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].

    Science.gov (United States)

    Zhang, Han-bing; Zhang, Wei-min; Qiu, Jia-jing; Meng, Yan; Qiu, Zheng-qing

    2012-06-01

    To analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis. Seventeen Chinese patients diagnosed by acid alpha-glucosidase (GAA) enzyme activity test were reviewed. Clinical data tables were designed. Interviews were made via phone calls. Information was collected to reach the objective. Four of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset, symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems, with or without respiratory concerns. Other 13 patients were later-onset cases, and their symptoms started between 2 to 22 years of age with increased serum creatine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed scoliosis, and 1 patient expressed increased serum creatine kinase with abnormal liver function. Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy, others were not. All patients' acid alpha-glucosidase (GAA) enzyme activity analysis showed lower than 10% of normal. Fourteen patients were tested by muscle biopsy pathology, and 9 of them progressed to glycogen storage disease type II; 10 patients received genetic analysis, and 6 of them had two mutations which cause the disorder. Twelve of the 17 patients were interviewed successfully. In 3 of the infant-onset patients the disease resulted in death from respiratory failure, and 1 is still alive at the age of 1 year and 7 months. In 4 of 8 later-onset patients the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivors had increased muscle weakness, and 1 patient kept alive with ventilator without any changes. Seven of 12 interviewed patients died, the mortality rate was 58.3%. Glycogen storage disease type II (Pompe disease) present differently in the

  18. Glycogen storage disease type I: clinical and laboratory profile

    Directory of Open Access Journals (Sweden)

    Berenice L. Santos

    2014-12-01

    Full Text Available OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.

  19. Glycogen storage disease type I: clinical and laboratory profile.

    Science.gov (United States)

    Santos, Berenice L; Souza, Carolina F M de; Schuler-Faccini, Lavinia; Refosco, Lilia; Epifanio, Matias; Nalin, Tatiele; Vieira, Sandra M G; Schwartz, Ida V D

    2014-01-01

    To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. Twenty-one patients were included (median age 10 years, range 1-25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r=0.561; p=0.008). Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  20. [Oral diseases in auto-immune polyendocrine syndrome type 1].

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Guyot, Sylvie

    2017-09-01

    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  1. Hypovalency--a kinetic-energy density description of a 4c-2e bond.

    Science.gov (United States)

    Jacobsen, Heiko

    2009-06-07

    A bond descriptor based on the kinetic energy density, the localized-orbital locator (LOL), is used to characterize the nature of the chemical bond in electron deficient multi-center bonds. The boranes B(2)H(6), B(4)H(4), B(4)H(10), [B(6)H(6)](2-), and [B(6)H(7)](-) serve as prototypical examples of hypovalent 3c-2e and 4c-2e bonding. The kinetic energy density is derived from a set of Kohn-Sham orbitals obtained from pure density functional calculations (PBE/TZVP), and the topology of LOL is analyzed in terms of (3,-3) attractors (Gamma). The B-B-B and B-H-B 3c-2e, and the B-B-H-B 4c-2e bonding situations are defined by their own characteristic LOL profiles. The presence of one attractor in relation to the three or four atoms that are engaged in electron deficient bonding provides sufficient indication of the type of 3c-2e or 4c-2e bond present. For the 4c-2e bond in [B(6)H(7)](-) the LOL analysis is compared to results from an experimental QTAIM study.

  2. Genetic homogeneity of autoimmune polyglandular disease type I

    Energy Technology Data Exchange (ETDEWEB)

    Bjoerses, P.; Aaltonen, J.; Vikman, A. [Univ. of Helsinki (Finland)] [and others

    1996-10-01

    Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by hypoparathyroidism, primary adrenocortical failure, and chronic mucocutaneous candidiasis. The disease is highly prevalent in two isolated populations, the Finnish population and the Iranian Jewish one. Sporadic cases have been identified in many other countries, including almost all European countries. The APECED locus has previously been assigned to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Locus heterogeneity is a highly relevant question in this disease affecting multiple tissues and with great phenotypic diversity. To solve this matter, we performed linkage and haplotype analyses on APECED families rising from different populations. Six microsatellite markers on the critical chromosomal region of 2.6 cM on 21q22.3 were analyzed. Pair-wise linkage analyses revealed significant LOD scores for all these markers, maximum LOD score being 10.23. The obtained haplotype data and the geographic distribution of the great-grandparents of the Finnish APECED patients suggest the presence of one major, relatively old mutation responsible for {approximately}90% of the Finnish cases. Similar evidence for one founder mutation was also found in analyses of Iranian Jewish APECED haplotypes. These haplotypes, however, differed totally from the Finnish ones. The linkage analyses in 21 non-Finnish APECED families originating from several European countries provided independent evidence for linkage to the same chromosomal region on 21q22.3 and revealed no evidence for locus heterogeneity. The haplotype analyses of APECED chromosomes suggest that in different populations APECED is due to a spectrum of mutations in a still unknown gene on chromosome 21. 21 refs., 3 figs., 3 tabs.

  3. Nondiabetic renal disease in patients with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Ikram Mami

    2017-01-01

    Full Text Available Diabetic nephropathy (DN is one of the major complications of type 2 diabetes mellitus (T2DM. The diagnosis of DN is mostly clinical. Kidney biopsy is indicated only if nondiabetic renal disease (NDRD is suspected. This study is aimed to assess the prevalence of NDRD and to determine predictor and prognostic factors of DN, NDRD. It was a retrospective analytic study including T2DM patients in whom renal biopsies were performed at our department from 1988 to 2014. Seventy-five patients were included. Mean age was 52.7 years with sex ratio at 1.56. Renal biopsy findings were isolated NDRD in 33 cases, NDRD superimposed on DN in 24 cases, and isolated DN in 18 cases. Most common NDRD found were focal segmental glomerulosclerosis (21% and membranous nephropathy (19%. Multivariate analysis showed that the absence of ischemic heart disease [odds ratio (OR = 0.178, 95% confidence interval (CI = 0.041–0.762], absence of peripheral vascular disease (OR = 0.173, 95% CI = 0.045–0.669, and presence of hematuria (OR = 7.200, 95%CI = 0.886–58.531 were independent predictors of NDRD. 24 patients reached end-stage renal disease 55% in DN group, 16% in DN associated to NDRD group, and 30% in NDRD group. The prevalence of NDRD found in our study confirmed usefulness of renal biopsy in patients with T2DM, especially in those without degenerative complications, hypertension, and insulin therapy.

  4. Genetic homogeneity of autoimmune polyglandular disease type I.

    Science.gov (United States)

    Björses, P.; Aaltonen, J.; Vikman, A.; Perheentupa, J.; Ben-Zion, G.; Chiumello, G.; Dahl, N.; Heideman, P.; Hoorweg-Nijman, J. J.; Mathivon, L.; Mullis, P. E.; Pohl, M.; Ritzen, M.; Romeo, G.; Shapiro, M. S.; Smith, C. S.; Solyom, J.; Zlotogora, J.; Peltonen, L.

    1996-01-01

    Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by hypoparathyroidism, primary adrenocortical failure, and chronic mucocutaneous candidiasis. The disease is highly prevalent in two isolated populations, the Finnish population and the Iranian Jewish one. Sporadic cases have been identified in many other countries, including almost all European countries. The APECED locus has previously been assigned to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Locus heterogeneity is a highly relevant question in this disease affecting multiple tissues and with great phenotypic diversity. To solve this matter, we performed linkage and haplotype analyses on APECED families rising from different populations. Six microsatellite markers on the critical chromosomal region of 2.6 cM on 21q22.3 were analyzed. Pairwise linkage analyses revealed significant LOD scores for all these markers, maximum LOD score being 10.23. The obtained haplotype data and the geographic distribution of the great-grandparents of the Finnish APECED patients suggest the presence of one major, relatively old mutation responsible for approximately 90% of the Finnish cases. Similar evidence for one founder mutation was also found in analyses of Iranian Jewish APECED haplotypes. These haplotypes, however, differed totally from the Finnish ones. The linkage analyses in 21 non-Finnish APECED families originating from several European countries provided independent evidence for linkage to the same chromosomal region on 21q22.3 and revealed no evidence for locus heterogeneity. The haplotype analyses of APECED chromosomes suggest that in different populations APECED is due to a spectrum of mutations in a still unknown gene on chromosome 21. PMID:8808604

  5. Integral core degradation test with B4C control rod

    International Nuclear Information System (INIS)

    Windberg, P.; Nagy, I.; Matus, L.; Balasko, M.; Hozer, Z.; Czitrovszky, A.; Nagy, A.

    2001-01-01

    The CODEX-B4C VVER bundle test has been successfully performed on 25 th May 2001 in the framework of the COLOSS project of the EU 5 th FWP. The experiment was carried out according to a scenario selected in favour of methane formation. Degradation of control rod and fuel bundle took place at temperatures approx. 2000 oC, cooling down of the bundle was performed in steam atmosphere. The gas composition measurement indicated no methane production during the experiment. The on-line measured data are collected into a database and are available for code validation and development.(author)

  6. Metformin in Patients With Type 2 Diabetes and Kidney Disease

    Science.gov (United States)

    Inzucchi, Silvio E.; Lipska, Kasia J.; Mayo, Helen; Bailey, Clifford J.; McGuire, Darren K.

    2015-01-01

    IMPORTANCE Metformin is widely viewed as the best initial pharmacological option to lower glucose concentrations in patients with type 2 diabetes mellitus. However, the drug is contraindicated in many individuals with impaired kidney function because of concerns of lactic acidosis. OBJECTIVE To assess the risk of lactic acidosis associated with metformin use in individuals with impaired kidney function. EVIDENCE ACQUISITION In July 2014, we searched the MEDLINE and Cochrane databases for English-language articles pertaining to metformin, kidney disease, and lactic acidosis in humans between 1950 and June 2014. We excluded reviews, letters, editorials, case reports, small case series, and manuscripts that did not directly pertain to the topic area or that met other exclusion criteria. Of an original 818 articles, 65 were included in this review, including pharmacokinetic/metabolic studies, large case series, retrospective studies, meta-analyses, and a clinical trial. RESULTS Although metformin is renally cleared, drug levels generally remain within the therapeutic range and lactate concentrations are not substantially increased when used in patients with mild to moderate chronic kidney disease (estimated glomerular filtration rates, 30-60 mL/min per 1.73 m2). The overall incidence of lactic acidosis in metformin users varies across studies from approximately 3 per 100 000 person-years to 10 per 100 000 person-years and is generally indistinguishable from the background rate in the overall population with diabetes. Data suggesting an increased risk of lactic acidosis in metformin-treated patients with chronic kidney disease are limited, and no randomized controlled trials have been conducted to test the safety of metformin in patients with significantly impaired kidney function. Population-based studies demonstrate that metformin may be prescribed counter to prevailing guidelines suggesting a renal risk in up to 1 in 4 patients with type 2 diabetes mellitus

  7. Glycogen Storage Disease Type Ib: The First Case in Taiwan

    Directory of Open Access Journals (Sweden)

    Hui-Ju Hsiao

    2009-06-01

    Full Text Available Glycogen storage disease (GSD type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. The proband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age after two mutations (c.354_355insC (p. W118fsX12 and c.736T >C (p.W246R were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients.

  8. Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

    Directory of Open Access Journals (Sweden)

    Hahner Stefanie

    2008-07-01

    Full Text Available Abstract Background Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from β-cell autoimmunity. Methods We investigated the role of the -2221Msp(C/T and -23HphI(A/T polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317, Addison's disease (AD, n = 107 or Hashimoto's thyroiditis (HT, n = 61], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62 as well as in healthy controls (HC, n = 275. Results T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T and "AA" -23HphI(A/T polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively. The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion We demonstrate that the allele "C" of the -2221Msp(C/T and "A" -23HphI(A/T insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

  9. Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report.

    Science.gov (United States)

    Le Peillet, Damien; Prendki, Virginie; Trombert, Véronique; Laffitte, Emmanuel; Assal, Frédéric; Reny, Jean Luc; Serratrice, Christine

    2018-03-01

    Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy). The diagnosis is usually made in first decades but is sometimes delayed. Parkinson disease, neoplasia, and immune system abnormalities may be associated with GD1. A patient known for hepatosplenomegaly with hyperferritinemia, anemia, and thrombocytopenia was admitted for Lewy body dementia and bullous pemphigoid. Type 1 Gaucher disease. No specific treatment started. patient died ten months later due to pneumonia. To the best of our knowledge, this is the first case of the association between GD1, bullous pemphigoid, and Lewy body dementia. We discuss the central role of alpha-synuclein in these pathologies.

  10. Empagliflozin and Progression of Kidney Disease in Type 2 Diabetes.

    Science.gov (United States)

    Wanner, Christoph; Inzucchi, Silvio E; Lachin, John M; Fitchett, David; von Eynatten, Maximilian; Mattheus, Michaela; Johansen, Odd Erik; Woerle, Hans J; Broedl, Uli C; Zinman, Bernard

    2016-07-28

    Diabetes confers an increased risk of adverse cardiovascular and renal events. In the EMPA-REG OUTCOME trial, empagliflozin, a sodium-glucose cotransporter 2 inhibitor, reduced the risk of major adverse cardiovascular events in patients with type 2 diabetes at high risk for cardiovascular events. We wanted to determine the long-term renal effects of empagliflozin, an analysis that was a prespecified component of the secondary microvascular outcome of that trial. We randomly assigned patients with type 2 diabetes and an estimated glomerular filtration rate of at least 30 ml per minute per 1.73 m(2) of body-surface area to receive either empagliflozin (at a dose of 10 mg or 25 mg) or placebo once daily. Prespecified renal outcomes included incident or worsening nephropathy (progression to macroalbuminuria, doubling of the serum creatinine level, initiation of renal-replacement therapy, or death from renal disease) and incident albuminuria. Incident or worsening nephropathy occurred in 525 of 4124 patients (12.7%) in the empagliflozin group and in 388 of 2061 (18.8%) in the placebo group (hazard ratio in the empagliflozin group, 0.61; 95% confidence interval, 0.53 to 0.70; Pempagliflozin group and in 60 of 2323 (2.6%) in the placebo group, a significant relative risk reduction of 44%. Renal-replacement therapy was initiated in 13 of 4687 patients (0.3%) in the empagliflozin group and in 14 of 2333 patients (0.6%) in the placebo group, representing a 55% lower relative risk in the empagliflozin group. There was no significant between-group difference in the rate of incident albuminuria. The adverse-event profile of empagliflozin in patients with impaired kidney function at baseline was similar to that reported in the overall trial population. In patients with type 2 diabetes at high cardiovascular risk, empagliflozin was associated with slower progression of kidney disease and lower rates of clinically relevant renal events than was placebo when added to standard care

  11. An assessment of the MCNP4C weight window

    International Nuclear Information System (INIS)

    Culbertson, Christopher N.; Hendricks, John S.

    1999-01-01

    A new, enhanced weight window generator suite has been developed for MCNP version 4C. The new generator correctly estimates importances in either a user-specified, geometry-independent, orthogonal grid or in MCNP geometric cells. The geometry-independent option alleviates the need to subdivide the MCNP cell geometry for variance reduction purposes. In addition, the new suite corrects several pathologies in the existing MCNP weight window generator. The new generator is applied in a set of five variance reduction problems. The improved generator is compared with the weight window generator applied in MCNP4B. The benefits of the new methodology are highlighted, along with a description of its limitations. The authors also provide recommendations for utilization of the weight window generator

  12. Neurofibromatosis type 2 appears to be a genetically homogeneous disease

    Energy Technology Data Exchange (ETDEWEB)

    Narod, S.A.; Parry, D.M.; Parboosingh, J.; Lenoir, G.M.; Ruttledge, M.; Fischer, G.; Eldridge, R.; Martuza, R.L.; Frontali, M.; Haines, J.; Gusella, J.F.; Rouleau, G.A.

    1992-09-01

    Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome characterized by the development of vestibular schwannomas and other tumors of the nervous system, including cranial and spinal meningiomos, schwannomas, and ependymomas. The presence of bilateral vestibular schwannomas is sufficient for the diagnosis. Skin manifestations are less common than in neurofibromatosis type 1 (NF1; von Recklinghausen disease). The apparent clinical distinction between NF1 and NF2 has been confirmed at the level of the gene locus by linkage studies; the gene for NF1 maps to chromosome 17, where as the gene for NF2 has been assigned (in a single family) to chromosome 22. To increase the precision of the genetic mapping of NF2 and to determine whether additional susceptibility loci exist, the authors have performed linkage analysis on 12 families with NF2 by using four polymorphic markers from chromosome 22 and a marker at the NF1 locus on chromosome 17. The results confirm the assignment of the gene for NF2 to chromosome 22 and do not support the hypothesis of genetic heterogeneity. The authors believe that chromosome 22 markers can now be used for presymptomatic diagnosis in selected families. The NF2 gene is tightly linked to the D22S32 locus (maximum lod score 4.12; recombination fraction 0). A CA-repeat polymorphism at the CRYB2 locus was the most informative marker in the families (lod score 5.99), but because the observed recombination fraction between NF2 and CRYB2 was 10 cM, predictions using this marker will need to be interpreted with caution. 42 refs., 4 figs., 3 tabs.

  13. The molecular basis of type 1 glycogen storage diseases.

    Science.gov (United States)

    Chou, J Y

    2001-03-01

    Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is a group of autosomal recessive metabolic disorders caused by deficiencies in the activity of the glucose-6-phosphatase (G6Pase) system that consists of at least two membrane proteins, glucose-6-phosphate transporter (G6PT) and G6Pase. G6PT translocates glucose-6-phosphate (G6P) from cytoplasm to the lumen of the endoplasmic reticulum (ER) and G6Pase catalyzes the hydrolysis of G6P to produce glucose and phosphate. Therefore, G6PT and G6Pase work in concert to maintain glucose homeostasis. Deficiencies in G6Pase and G6PT cause GSD-1a and GSD-1b, respectively. Both manifest functional G6Pase deficiency characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, hyperuricemia, and lactic acidemia. GSD-1b patients also suffer from chronic neutropenia and functional deficiencies of neutrophils and monocytes, resulting in recurrent bacterial infections as well as ulceration of the oral and intestinal mucosa. The G6Pase gene maps to chromosome 17q21 and encodes a 36-kDa glycoprotein that is anchored to the ER by 9 transmembrane helices with its active site facing the lumen. Animal models of GSD-1a have been developed and are being exploited to delineate the disease more precisely and to develop new therapies. The G6PT gene maps to chromosome 11q23 and encodes a 37-kDa protein that is anchored to the ER by 10 transmembrane helices. A functional assay for the recombinant G6PT protein has been established, which showed that G6PT functions as a G6P transporter in the absence of G6Pase. However, microsomal G6P uptake activity was markedly enhanced in the simultaneous presence of G6PT and G6Pase. The cloning of the G6PT gene now permits animal models of GSD-1b to be generated. These recent developments are increasing our understanding of the GSD-l disorders and the G6Pase system, knowledge that will facilitate the development of novel therapeutic approaches for

  14. MR imaging in adults with Gaucher disease type I: evulation of marrow involvement and disease activity

    International Nuclear Information System (INIS)

    Hermann, G.; Shaprio, R.S.; Abdelwahab, I.F.; Grabowski, G.

    1993-01-01

    An investigation was conducted to determine the usefulness of magnetic resonance imaging (MRI) in the evaluation of bone marrow involvement in patients with Gaucher disease type I. T1- and T2-weighted images were obtained of the lower extremities of 29 adult patients. Patients were classified into one of three groups based on marrow signal patterns on T1- and T2-weighted images as well as change in signal intensity from T1- to T2-weighted images. An increase in signal intensity from T1- to T2-weighted images was the criterion for an 'active process' within the bone marrow. Classification of the 29 patients produced the following results: Group A: Normal, 4 patients; group B: Marrow infiltration, 16 patients; group C: Marrow infiltration plus active marrow process, 9 patients. Correlation with clinical findings revealed that all nine patients with evidence of an active marrow process on MRI (group C) had acute bone pain. Conversely, only one of the remaining 20 patients (groups A and B) had bone pain. There was no correlation between disease activity and findings on conventional radiographs. We conclude the MRI provides an excellent noninvasive assessment of the extent and activity of marrow involvement in type I Gaucher disease. (orig.)

  15. Alcohol Consumption, Types of Alcohol, and Parkinson's Disease.

    Directory of Open Access Journals (Sweden)

    Rui Liu

    Full Text Available The epidemiologic evidence on alcohol consumption and Parkinson's disease (PD is equivocal. We prospectively examined total alcohol consumption and consumption of specific types of alcoholic beverage in relation to future risk of PD.The study comprised 306,895 participants (180,235 male and 126,660 female ages 50-71 years in 1995-1996 from the NIH-AARP Diet and Health Study. Consumption of alcoholic beverages in the past 12 months was assessed in 1995-1996. Multivariate odds ratios (OR and 95% confidence intervals (CI were obtained from logistic regression models.A total of 1,113 PD cases diagnosed between 2000 and 2006 were included in the analysis. Total alcohol consumption was not associated with PD. However, the association differed by types of alcoholic beverages. Compared with non-beer drinkers, the multivariate ORs for beer drinkers were 0.79 (95% CI: 0.68, 0.92 for <1 drink/day, 0.73 (95% CI: 0.50, 1.07 for 1-1.99 drinks/day, and 0.86 (95% CI: 0.60, 1.21 for ≥2 drinks/day. For liquor consumption, a monotonic increase in PD risk was suggested: ORs (95% CI were 1.06 (0.91, 1.23, 1.22 (0.94, 1.58, and 1.35 (1.02, 1.80 for <1, 1-1.99, and ≥2 drinks/day, respectively (P for trend <0.03. Additional analyses among exclusive drinkers of one specific type of alcoholic beverage supported the robustness of these findings. The results for wine consumption were less clear, although a borderline lower PD risk was observed when comparing wine drinkers of 1-1.99 drinks/day with none drinkers (OR = 0.74, 95% CI: 0.53, 1.02.OUR RESULTS SUGGEST THAT BEER AND LIQUOR CONSUMPTION MAY HAVE OPPOSITE ASSOCIATIONS WITH PD: low to moderate beer consumption with lower PD risk and greater liquor consumption with higher risk. These findings and potential underlying mechanisms warrant further investigations.

  16. Sleep disorders in Charcot-Marie-Tooth disease type 1.

    Science.gov (United States)

    Boentert, Matthias; Knop, Katharina; Schuhmacher, Christine; Gess, Burkhard; Okegwo, Angelika; Young, Peter

    2014-03-01

    Obstructive sleep apnoea (OSA) and restless legs syndrome (RLS) have been reported in Charcot-Marie-Tooth disease (CMT) type 1A and axonal subtypes of CMT, respectively. The aim of this case-control study was to investigate both prevalence and severity of OSA, RLS and periodic limb movements in sleep (PLMS) in adult patients with genetically proven CMT1. 61 patients with CMT1 and 61 insomnic control subjects were matched for age, sex, and Body Mass Index. Neurological disability in patients with CMT was assessed using the Functional Disability Scale (FDS). RLS diagnosis was based on a screening questionnaire and structured clinical interviews. All participants underwent overnight polysomnography. OSA was present in 37.7% of patients with CMT1 and 4.9% of controls (psleep quality. In addition to known risk factors, CMT may predispose to OSA. RLS is highly prevalent not only in axonal subtypes of CMT but also in primarily demyelinating subforms of CMT. PLMS are common in CMT1, but do not significantly impair sleep quality.

  17. Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease

    Science.gov (United States)

    Specht, Andrew; Fiske, Laurie; Erger, Kirsten; Cossette, Travis; Verstegen, John; Campbell-Thompson, Martha; Struck, Maggie B.; Lee, Young Mok; Chou, Janice Y.; Byrne, Barry J.; Correia, Catherine E.; Mah, Cathryn S.; Weinstein, David A.; Conlon, Thomas J.

    2011-01-01

    A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including “lactic acidosis”, larger size, and longer lifespan compared to other animal models. Use of this model in preclinical trials of gene therapy is described and briefly compared to the murine model. Although the canine model offers a number of advantages for evaluating potential therapies for GSDIa, there are also some significant challenges involved in its use. Despite these challenges, the canine model of GSDIa should continue to provide valuable information about the potential for generating curative therapies for GSDIa as well as other genetic hepatic diseases. PMID:21318173

  18. Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease

    Directory of Open Access Journals (Sweden)

    Andrew Specht

    2011-01-01

    Full Text Available A canine model of Glycogen storage disease type Ia (GSDIa is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including “lactic acidosis”, larger size, and longer lifespan compared to other animal models. Use of this model in preclinical trials of gene therapy is described and briefly compared to the murine model. Although the canine model offers a number of advantages for evaluating potential therapies for GSDIa, there are also some significant challenges involved in its use. Despite these challenges, the canine model of GSDIa should continue to provide valuable information about the potential for generating curative therapies for GSDIa as well as other genetic hepatic diseases.

  19. Criticality Analysis Of TCA Critical Lattices With MNCP-4C Monte Carlo Calculation

    International Nuclear Information System (INIS)

    Zuhair

    2002-01-01

    The use of uranium-plutonium mixed oxide (MOX) fuel in electric generation light water reactor (PWR, BWR) is being planned in Japan. Therefore, the accuracy evaluations of neutronic analysis code for MOX cores have been employed by many scientists and reactor physicists. Benchmark evaluations for TCA was done using various calculation methods. The Monte Carlo become the most reliable method to predict criticality of various reactor types. In this analysis, the MCNP-4C code was chosen because various superiorities the code has. All in all, the MCNP-4C calculation for TCA core with 38 MOX critical lattice configurations gave the results with high accuracy. The JENDL-3.2 library showed significantly closer results to the ENDF/B-V. The k eff values calculated with the ENDF/B-VI library gave underestimated results. The ENDF/B-V library gave the best estimation. It can be concluded that MCNP-4C calculation, especially with ENDF/B-V and JENDL-3.2 libraries, for MOX fuel utilized NPP design in reactor core is the best choice

  20. Facile preparation of porous LiFePO{sub 4}/C composite granules by mechanical process

    Energy Technology Data Exchange (ETDEWEB)

    Kozawa, Takahiro, E-mail: t-kozawa@jwri.osaka-u.ac.jp; Kataoka, Noriaki; Kondo, Akira; Nakamura, Eri; Abe, Hiroya; Naito, Makio

    2015-04-01

    Lithium iron phosphate (LiFePO{sub 4}) which is a promising cathode material for lithium-ion batteries requires particle size reduction, carbon coating and granulation to improve its electrochemical performances and increase the energy densities. In addition, their composite granules desire a porous structure in order to assist the penetration of liquid electrolyte. Here, we report a facile preparation of porous LiFePO{sub 4}/C composite granules by a mechanical method using an attrition-type mill. By the mechanical treatment of starting materials, LiFePO{sub 4}/C composite granules with an average pore size of 20–30 nm were synthesized in one-step process without atmosphere control and external heating. This simple mechanical technique does not require additional pore forming agents. According to the cell tests, a favorable cycle performance was exhibited. - Highlights: • Porous LiFePO{sub 4}/C composite granule was synthesized by one-pot mechanical process. • LiFePO{sub 4} was formed without atmosphere control and external heating. • Gases released from raw materials act as pore forming agents. • A favorable cycle performance was exhibited.

  1. Phenotypic variability of CMT4C in a French-Canadian kindred.

    Science.gov (United States)

    Varley, Talia L; Bourque, Pierre R; Baker, Steven K

    2015-09-01

    Charcot-Marie-Tooth type 4C (CMT4C) is an autosomal recessive dysmyelinating neuropathy characterized by precocious and rapidly progressive scoliosis. Patients in a French-Canadian kindred were evaluated with clinical examination, electrophysiologic study, and genomic DNA extraction. Six of 10 siblings were clinically symptomatic with supportive electrophysiologic features. The proband presented with regional side-to-side sensorimotor asymmetry, typical pes cavus without obvious scoliosis, and unremarkable plain films of the spine. Affected siblings all share symptoms of foot deformity but have variable onset of neuropathic symptoms, degree of extremity weakness, progression of symptoms, and, most notably, evidence of scoliosis. DNA sequence analysis revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the SH3TC2 gene. A broad spectrum of phenotypes should be considered in the possible diagnosis of CMT4C. The absence of scoliosis or late-onset symptoms should not exclude SH3TC2 from the list of candidate genes under consideration. Age of onset and clinical features were variable and suggest that polygenic factors contribute to the final phenotype. © 2015 Wiley Periodicals, Inc.

  2. Alcohol Consumption, Types of Alcohol, and Parkinson's Disease.

    Science.gov (United States)

    Liu, Rui; Guo, Xuguang; Park, Yikyung; Wang, Jian; Huang, Xuemei; Hollenbeck, Albert; Blair, Aaron; Chen, Honglei

    2013-01-01

    The epidemiologic evidence on alcohol consumption and Parkinson's disease (PD) is equivocal. We prospectively examined total alcohol consumption and consumption of specific types of alcoholic beverage in relation to future risk of PD. The study comprised 306,895 participants (180,235 male and 126,660 female) ages 50-71 years in 1995-1996 from the NIH-AARP Diet and Health Study. Consumption of alcoholic beverages in the past 12 months was assessed in 1995-1996. Multivariate odds ratios (OR) and 95% confidence intervals (CI) were obtained from logistic regression models. A total of 1,113 PD cases diagnosed between 2000 and 2006 were included in the analysis. Total alcohol consumption was not associated with PD. However, the association differed by types of alcoholic beverages. Compared with non-beer drinkers, the multivariate ORs for beer drinkers were 0.79 (95% CI: 0.68, 0.92) for drink/day, 0.73 (95% CI: 0.50, 1.07) for 1-1.99 drinks/day, and 0.86 (95% CI: 0.60, 1.21) for ≥2 drinks/day. For liquor consumption, a monotonic increase in PD risk was suggested: ORs (95% CI) were 1.06 (0.91, 1.23), 1.22 (0.94, 1.58), and 1.35 (1.02, 1.80) for drinks/day, respectively (P for trend alcoholic beverage supported the robustness of these findings. The results for wine consumption were less clear, although a borderline lower PD risk was observed when comparing wine drinkers of 1-1.99 drinks/day with none drinkers (OR = 0.74, 95% CI: 0.53, 1.02). OUR RESULTS SUGGEST THAT BEER AND LIQUOR CONSUMPTION MAY HAVE OPPOSITE ASSOCIATIONS WITH PD: low to moderate beer consumption with lower PD risk and greater liquor consumption with higher risk. These findings and potential underlying mechanisms warrant further investigations.

  3. Validating the Type D personality construct in Chinese patients with coronary heart disease

    DEFF Research Database (Denmark)

    Yu, Doris S F; Thompson, David R; Yu, Cheuk Man

    2010-01-01

    Type D personality predicts poor prognosis in coronary heart disease (CHD) but little is known about Type D in non-Western cultures. We examined the (a) validity of the Type D construct and its assessment with the DS14 scale in the Chinese culture, (b) prevalence of Type D, and (c) gender vs. Type...

  4. Glycogen storage disease type III: modified Atkins diet improves myopathy.

    Science.gov (United States)

    Mayorandan, Sebene; Meyer, Uta; Hartmann, Hans; Das, Anibh Martin

    2014-11-28

    Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recommend frequent feedings with high complex carbohydrates or cornstarch avoiding fasting in children, while in adults a low-carb-high-protein-diet is recommended. While this regimen can prevent hypoglycaemia in children it does not improve skeletal and heart muscle function, which are compromised in patients with glycogenosis IIIa. Administration of carbohydrates may elicit reactive hyperinsulinism, resulting in suppression of lipolysis, ketogenesis, gluconeogenesis, and activation of glycogen synthesis. Thus, heart and skeletal muscle are depleted of energy substrates. Modified Atkins diet leads to increased blood levels of ketone bodies and fatty acids. We hypothesize that this health care intervention improves the energetic balance of muscles. We treated 2 boys with glycogenosis IIIa aged 9 and 11 years with a modified Atkins diet (10 g carbohydrate per day, protein and fatty acids ad libitum) over a period of 32 and 26 months, respectively. In both patients, creatine kinase levels in blood dropped in response to Atkins diet. When diet was withdrawn in one of the patients he complained of chest pain, reduced physical strength and creatine kinase levels rapidly increased. This was reversed when Atkins diet was reintroduced. One patient suffered from severe cardiomyopathy which significantly improved under diet. Patients with glycogenosis IIIa benefit from an improved energetic state of heart and skeletal muscle by introduction of Atkins diet both on a biochemical and clinical level. Apart from transient hypoglycaemia no serious adverse effects were observed.

  5. Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy

    NARCIS (Netherlands)

    Langeveld, M.; de Fost, M.; Aerts, J. M. F. G.; Sauerwein, H. P.; Hollak, C. E. M.

    2008-01-01

    Type I Gaucher disease, a lysosomal storage disorder is associated with metabolic abnormalities such as high resting energy expenditure, low circulating adiponectin and peripheral insulin resistance. Treatment with enzyme replacement therapy (enzyme therapy) leads to a decrease in resting energy

  6. Detection of type 1 prion protein in variant Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    Yull, H.M.; Ritchie, D.L.; Langeveld, J.P.M.; Zijderveld, van F.G.; Bruce, M.E.; Ironside, J.W.; Head, M.W.

    2006-01-01

    Molecular typing of the abnormal form of the prion protein (PrPSc) has come to be regarded as a powerful tool in the investigation of the prion diseases. All evidence thus far presented indicates a single PrPSc molecular type in variant Creutzfeldt-Jakob disease (termed type 2B), presumably

  7. Geographical Overlapping of Obesity, Heart Disease, and Type 2 Diabetes

    Centers for Disease Control (CDC) Podcasts

    2017-10-09

    This podcast features Kayla Smurthwaite, an undergraduate student at Australian National University in Canberra, Australia, and one of the winners of PCD’s 2017 Student Research Paper Contest. Kayla answers questions about her winning research and what impact her study has on chronic disease prevention and public health.  Created: 10/9/2017 by Preventing Chronic Disease (PCD), National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 10/9/2017.

  8. McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.

    Science.gov (United States)

    Bollig, Georg

    2013-09-01

    McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological management of patients with McArdles disease is provided. A short overview of anesthesiological challenges and perioperative complications of other glycogen storage diseases is given. © 2013 John Wiley & Sons Ltd.

  9. Pepper pathogenesis-related protein 4c is a plasma membrane-localized cysteine protease inhibitor that is required for plant cell death and defense signaling.

    Science.gov (United States)

    Kim, Nak Hyun; Hwang, Byung Kook

    2015-01-01

    Xanthomonas campestris pv. vesicatoria (Xcv) type III effector AvrBsT triggers programmed cell death (PCD) and activates the hypersensitive response (HR) in plants. Here, we isolated and identified the plasma membrane localized pathogenesis-related (PR) protein 4c gene (CaPR4c) from pepper (Capsicum annuum) leaves undergoing AvrBsT-triggered HR cell death. CaPR4c encodes a protein with a signal peptide and a Barwin domain. Recombinant CaPR4c protein expressed in Escherichia coli exhibited cysteine protease-inhibitor activity and ribonuclease (RNase) activity. Subcellular localization analyses revealed that CaPR4c localized to the plasma membrane in plant cells. CaPR4c expression was rapidly and specifically induced by avirulent Xcv (avrBsT) infection. Transient expression of CaPR4c caused HR cell death in pepper leaves, which was accompanied by enhanced accumulation of H2 O2 and significant induction of some defense-response genes. Deletion of the signal peptide from CaPR4c abolished the induction of HR cell death, indicating a requirement for plasma membrane localization of CaPR4c for HR cell death. CaPR4c silencing in pepper disrupted both basal and AvrBsT-triggered resistance responses, and enabled Xcv proliferation in infected leaves. H2 O2 accumulation, cell-death induction, and defense-response gene expression were distinctly reduced in CaPR4c-silenced pepper. CaPR4c overexpression in transgenic Arabidopsis plants conferred greater resistance against infection by Pseudomonas syringae pv. tomato and Hyaloperonospora arabidopsidis. These results collectively suggest that CaPR4c plays an important role in plant cell death and defense signaling. © 2014 The Authors The Plant Journal © 2014 John Wiley & Sons Ltd.

  10. Systematic review with meta-analysis: associations between coeliac disease and type 1 diabetes.

    Science.gov (United States)

    Elfström, P; Sundström, J; Ludvigsson, J F

    2014-11-01

    In the past decade, a number of population-based studies have examined the prevalence of coeliac disease in individuals with type 1 diabetes but prevalences have differed considerably. To examine the prevalence of coeliac disease in individuals with type 1 diabetes. A systematic review of English-language articles published in PubMed Medline between 2000 and May 2014. Search terms included 'celiac disease' or 'coeliac disease' and 'diabetes mellitus'. Studies were selected with at least 100 individuals with type 1 diabetes being screened for coeliac disease where the coeliac diagnosis was later confirmed through small intestinal biopsy. Data synthesis used random-effects inverse variance-weighted models, and metaregression was used to examine heterogeneity in subgroups. A pooled analysis, based on 26,605 patients with type 1 diabetes, found a prevalence of biopsy-confirmed coeliac disease of 6.0% (95% CI = 5.0-6.9%). Heterogeneity was large (I(2) = 93.2%). The prevalence was lower in adults with type 1 diabetes (2.7%), and in mixed populations with both children and adults with type 1 diabetes (4.7%) than in children (6.2%) with type 1 diabetes (P coeliac disease prevalence between studies. More than one in twenty patients with type 1 diabetes have biopsy-verified coeliac disease. This prevalence is high enough to motivate screening for coeliac disease among patients with type 1 diabetes. © 2014 John Wiley & Sons Ltd.

  11. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

    NARCIS (Netherlands)

    Visser, G.; Rake, J.P.; Labrune, P.; Leonard, J.V.; Moses, S.; Ullrich, K.; Wendel, U.; Groenier, K.H.; Smit, G.P.

    2002-01-01

    Patients with glycogen storage disease type 1b (GSD-1b) have neutropenia and neutrophil dysfunction that predispose to frequent infections and inflammatory bowel disease (IBD), for which granulocyte colony-stimulating factor (GCSF) is given. To investigate the use and the value of GCSF treatment in

  12. Increased vital exhaustion among type-D patients with ischemic heart disease

    NARCIS (Netherlands)

    Pedersen, SS; Middel, B

    Objective: To investigate the prevalence of the "distressed personality" (type-D) in cardiac patients and to explore the relationships between type-D, gender, vital exhaustion and angina pectoris. Methods: A questionnaire was completed by 171 patients scheduled for coronary angiography (CAG) at

  13. Metabolic control of von Gierke disease (glycogen storage disease type Ia) in pregnancy: maintenance of euglycemia with cornstarch.

    Science.gov (United States)

    Johnson, M P; Compton, A; Drugan, A; Evans, M I

    1990-03-01

    In patients with glycogen storage disease type Ia, glucose-6-phosphatase deficiency reduces the liver's ability to generate free glucose from glycogen. Without a continuous, exogenous source of glucose, severe hypoglycemia and subsequent metabolic perturbations occur. Our observations of a patient with glycogen storage disease type Ia, who also had a clomiphene-induced triplet gestation, suggest that cornstarch, which can be catabolized by debranching enzymes, may be used to maintain a constant state of maternal and fetal euglycemia and correct many metabolic abnormalities. Our data suggest that patients with glycogen storage disease type Ia can be safely managed in pregnancy under a tightly monitored and regulated protocol of raw cornstarch feedings.

  14. Haemophilus influenzae Type b disease among Amish children in Pennsylvania: reasons for persistent disease.

    Science.gov (United States)

    Fry, A M; Lurie, P; Gidley, M; Schmink, S; Lingappa, J; Fischer, M; Rosenstein, N E

    2001-10-01

    To identify reservoirs of Haemophilus influenzae type b (Hib) pharyngeal carriage and assess barriers to vaccination among 2 Amish communities in Pennsylvania. We investigated recent cases, performed community surveys for Hib vaccination coverage and pharyngeal carriage, and administered a questionnaire assessing vaccination knowledge and attitudes to 298 members of 2 Amish communities (A and B) in Pennsylvania and, as a comparison group, 136 non-Amish family members who participated in state immunization clinics. From December 1999 to February 2000, 8 cases of invasive Hib disease occurred among children who were 5 years of age or younger in Pennsylvania. Six of the case-patients were from Amish communities. None of the children had been vaccinated. Among children who were 5 years of age or younger, Hib vaccine coverage was low in the 2 Amish communities: A (9 [28%] of 32) and B (3 [7%] of 41) compared with the non-Amish group (19 [95%] of 20). Hib carriage prevalence was higher in both Amish communities than in the non-Amish group (A: 3%; B: 8%; non-Amish: 0%). More households in community B had 1 or more Hib carriers than in community A (8 [28%] of 29 vs 3 [9%] of 32). Among Amish parents who did not vaccinate their children, only 25% (13 of 51) identified either religious or philosophical objections as a factor; 51% (26 of 51) reported that vaccinating was not a priority compared with other activities of daily life. Seventy-three percent (36 of 49) would vaccinate their children if vaccination were offered locally. Undervaccinated communities in the United States still exist and allow circulation of Hib strains, resulting in disease among susceptible children. Identification of undervaccinated populations, such as the Amish, and targeted education and vaccination campaigns are essential to achieving elimination of Hib disease.

  15. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

    NARCIS (Netherlands)

    de Ruijter, J.; Broere, L.; Mulder, M. F.; van der Ploeg, A. T.; Rubio-Gozalbo, M. E.; Wortmann, S. B.; Visser, G.; Wijburg, F. A.

    2014-01-01

    Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other

  16. UNUSUAL EUGLYCEMIC PRESENTATION OF GLYCOGEN STORAGE DISEASE TYPE 1B

    Directory of Open Access Journals (Sweden)

    Shivaprakash Sosale

    2015-06-01

    Full Text Available Glycogen storage diseases are infrequently reported metabolic disorder. Diagnosis and treatment of these conditions is a challenge to the clinician given its complexity and life threatening consequences

  17. Retrospective study of diseases and associated pneumonia type ...

    African Journals Online (AJOL)

    ADEYEYE

    2014-09-05

    Sep 5, 2014 ... *Correspondence: Tel.: +2348034701005, E-mail: afusatjagun@yahoo.com. Abstract. The causes and types of pneumonia in dogs have not been accorded due attention in Nigeria. It is imperative to investigate the incidence and type of pneumonia commonly observed during post-mortem at the ...

  18. Retrospective study of diseases and associated pneumonia type ...

    African Journals Online (AJOL)

    The causes and types of pneumonia in dogs have not been accorded due attention in Nigeria. It is imperative to investigate the incidence and type of pneumonia commonly observed during post-mortem at the Department of Veterinary Pathology arm of the Veterinary Teaching Hospital, Ibadan, Nigeria. This investigation ...

  19. Type D personality and health status in cardiovascular disease populations

    DEFF Research Database (Denmark)

    Versteeg, Henneke; Spek, Viola; Pedersen, Susanne S.

    2012-01-01

    in patient-reported physical and mental health status among cardiovascular patients. Methods: A computerized search of the literature through PUBMED and PsychINFO (from 1995 to May 2011) was performed and prospective studies were selected that analysed the association between Type D personality and health...... status in cardiovascular patients. Two separate meta-analyses were performed for the association of Type D personality with physical and mental health status, respectively. Results: Of all identified studies, ten studies met the selection criteria. The meta-analyses showed that Type D was associated......: Type D personality was shown to be an independent correlate of impaired patient-reported physical and mental health status in various cardiovascular patient groups. Clinicians should be aware of the association between chronic psychological distress and poor patient-reported outcomes....

  20. Correlation between the coping behavior and types of attitude to the disease in patients with coronary heart disease

    Directory of Open Access Journals (Sweden)

    O. A. Zubareva

    2014-01-01

    Full Text Available The article represents the results of research of correlation between the coping behavior and types of attitude to the disease taking into account the emotional, behavioral and cognitive components in male patients with different types of acute coronary heart disease (acute myocardial infarction and unstable stenocardia. Recommendations for the elaborating of psychocorrectional program were given according to the analysis of the obtained data.

  1. The influence of cardiovascular disease on quality of life in type 2 diabetics

    NARCIS (Netherlands)

    de Visser, CL; Bilo, HJG; Groenier, KH; de Visser, W; Meyboom-de Jong, B

    Background and Aims: In type 2 diabetes mellitus, disease-related complications have a considerable effect on the quality of life. We studied the influence of cardiovascular disease on quality of life in type 2 diabetic patients in a longitudinal design. We also studied whether quality of life in

  2. [Biomarkers and risk factors of cardiovascular system disease in diabetes mellitus type 2].

    Science.gov (United States)

    Prystupiuk, O M

    2013-01-01

    The content of glycated hemoglobin, a biomarker of diabetes in patients with type 2 diabetes correlates with risk factors for cardiovascular disease: hypertension, BMI and ratio of total cholesterol to HDL cholesterol. Therefore, increase in glycosylated hemoglobin should be considered a predictor of cardiovascular disease in patients with type 2 diabetes.

  3. An audit of chronic kidney disease risk factors in type 2 diabetic ...

    African Journals Online (AJOL)

    An audit of chronic kidney disease risk factors in type 2 diabetic patients in a tertiary hospital in Southern Nigeria. ... highly prevalent in type 2 diabetics in this study. Measures aimed at reducing these risks should be instituted to delay the onset and progression of CKD. Keywords: diabetes mellitus, chronic kidney disease, ...

  4. The association of type D personality with quality of life in patients with Parkinson's disease

    NARCIS (Netherlands)

    Dubayova, Tatiana; Nagyova, Iveta; Havlikova, Eva; Rosenberger, Jaroslav; Gdovinova, Zuzana; Middel, Berrie; van Dijk, Jitse P.; Groothoff, Johan W.

    2009-01-01

    Objectives: Personality traits appear as determinants of quality of life (QoL) in most chronic diseases. Type D personality is characterized by ineffective coping strategies that reduce QoL in patients with coronary heart disease. The aim of this study was to evaluate whether Type D personality also

  5. An Acoustic Study of the Relationships among Neurologic Disease, Dysarthria Type, and Severity of Dysarthria

    Science.gov (United States)

    Kim, Yunjung; Kent, Raymond D.; Weismer, Gary

    2011-01-01

    Purpose: This study examined acoustic predictors of speech intelligibility in speakers with several types of dysarthria secondary to different diseases and conducted classification analysis solely by acoustic measures according to 3 variables (disease, speech severity, and dysarthria type). Method: Speech recordings from 107 speakers with…

  6. Effect of microstructure on low temperature electrochemical properties of LiFePO4/C cathode material

    International Nuclear Information System (INIS)

    Zhao, Nannan; Zhi, Xiaoke; Wang, Li; Liu, Yanhui; Liang, Guangchuan

    2015-01-01

    -temperature performance of LiFePO 4 /C. A new type of LiFePO 4 /C with a pomegranate-like spherical structure composed of smaller spherical particles is reported, which shows good process-ability and superior low-temperature performance. The composite has a uniform particle size and carbon network, which delivers a discharge capacity of 89.3 mA h g −1 at −20 °C at a discharge rate of 0.5 C, with capacity retention rate of 58.7%. The 18650 batteries were prepared with pomegranate-like spherical structure LiFePO 4 /C composite which delivers a discharge capacity of 1603.7, 1563.8, 1572.28, 1598.0, 1580.1, 1504.2, and 1405.4 mA h at 0.5 C, 1 C, 2 C, 5 C, 10 C, 15 C, and 20 C, under 25 °C, respectively. Moreover, the batteries also exhibit good low-temperature performance with capacity of 1127.2 mA h at −20 °C at a discharge rate of 1 C, which is the 72.1% of the same discharge rate at 25 °C. Otherwise, the 18650 batteries also exhibit excellent cycling performance and the capacity maintains 83.4% at −20 °C after 100 cycles. The superior low-temperature performance of the LiFePO 4 /C composite material may be attributed to its uniform carbon network and fine primary particles

  7. Molecular analysis of glycogen storage disease type Ia in Iranian ...

    Indian Academy of Sciences (India)

    Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective ...

  8. Hepatic adenomatosis in glycogen storage disease type Ia: report of a case with unusual histology.

    Science.gov (United States)

    Volmar, Keith E; Burchette, James L; Creager, Andrew J

    2003-10-01

    Hepatic adenomatosis is a well-known complication of glycogen storage disease type Ia (von Gierke disease). Although most of these tumors have an appearance similar to sporadic hepatocellular adenomas, unusual histologic features have been reported, including Mallory hyaline, varying degrees of fibrosis, and aggregates of neutrophils. We report the fourth case of Mallory hyaline in the adenomas of glycogen storage disease type Ia in a 28-year-old woman undergoing segmental hepatectomy for enlarging liver nodules. Other prominent findings included steatohepatitis and nonspecific granulomatous inflammation--2 findings that are commonly seen in sporadic adenomas but not, to our knowledge, previously reported in glycogen storage disease type Ia.

  9. The Functions of Type I and Type II Natural Killer T (NKT) Cells in Inflammatory Bowel Diseases

    Science.gov (United States)

    Liao, Chia-Min; Zimmer, Michael I.; Wang, Chyung-Ru

    2013-01-01

    CD1d-restricted natural killer T (NKT) cells are a distinct subset of T cells that rapidly produce an array of cytokines upon activation and play a critical role in regulating various immune responses. NKT cells are classified into two groups based on differences in T cell receptor (TCR) usage. Type I NKT cells have an invariant TCRα-chain and are readily detectable by α-galactosylceramide (α-GalCer)-loaded CD1d tetramers. Type II NKT cells have a more diverse TCR repertoire and cannot be directly identified. Both types of NKT cells as well as multiple CD1d-expressing cell types are present in the intestine and their interactions are likely to be modulated by pathogenic and commensal microbes, which in turn contribute to the intestinal immune responses in health and disease. Indeed, in several animal models of inflammatory bowel disease (IBD), Type I NKT cells have been shown to make both protective and pathogenic contributions to disease. In contrast, in human patients suffering from ulcerative colitis (UC), and a mouse model in which both CD1d expression and the frequency of Type II NKT cells are increased, Type II NKT cells appear to promote intestinal inflammation. In this review, we summarize present knowledge on the antigen recognition, activation and function of NKT cells with a particular focus on their role in IBD, and discuss factors that may influence the functional outcome of NKT cell responses in intestinal inflammation. PMID:23518808

  10. Evidence for somatic gene conversion and deletion in bipolar disorder, Crohn's disease, coronary artery disease, hypertension, rheumatoid arthritis, type-1 diabetes, and type-2 diabetes.

    Science.gov (United States)

    Ross, Kenneth Andrew

    2011-02-03

    During gene conversion, genetic information is transferred unidirectionally between highly homologous but non-allelic regions of DNA. While germ-line gene conversion has been implicated in the pathogenesis of some diseases, somatic gene conversion has remained technically difficult to investigate on a large scale. A novel analysis technique is proposed for detecting the signature of somatic gene conversion from SNP microarray data. The Wellcome Trust Case Control Consortium has gathered SNP microarray data for two control populations and cohorts for bipolar disorder (BD), cardiovascular disease (CAD), Crohn's disease (CD), hypertension (HT), rheumatoid arthritis (RA), type-1 diabetes (T1D) and type-2 diabetes (T2D). Using the new analysis technique, the seven disease cohorts are analyzed to identify cohort-specific SNPs at which conversion is predicted. The quality of the predictions is assessed by identifying known disease associations for genes in the homologous duplicons, and comparing the frequency of such associations with background rates. Of 28 disease/locus pairs meeting stringent conditions, 22 show various degrees of disease association, compared with only 8 of 70 in a mock study designed to measure the background association rate (P conversion could be a significant causative factor in each of the seven diseases. The specific genes provide potential insights about disease mechanisms, and are strong candidates for further study.

  11. Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease).

    Science.gov (United States)

    Gossmann, J; Scheuermann, E H; Frilling, A; Geiger, H; Dietrich, C F

    2001-07-27

    We report on a 42-year-old female patient with glycogen storage disease type 1a (von Gierke disease, GSD 1a) who developed hepatic adenomas and finally a hepatocellular carcinoma 10 years after renal transplantation. The tumor was resected; however, the patient died 6 months later as a result of fulminant carcinoma recurrence. In patients who have GSD 1a with terminal renal failure, combined liver and kidney transplantation may be considered at an early stage of the disease.

  12. Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity

    NARCIS (Netherlands)

    Gutierrez-Achury, Javier; Romanos, Jihane; Bakker, Sjoerd F.; Magadi Gopalaiah, Vinod Kumar; de Haas, Esther C.; Trynka, Gosia; Ricano-Ponce, Isis; Steck, Andrea; Chen, Wei-Min; Onengut-Gumuscu, Suna; Simsek, Suat; Rewers, Marian; Mulder, Chris J.; Liu, Ed; Rich, Stephen S.; Wijmenga, Cisca

    2015-01-01

    Type 1 diabetes (T1D) and celiac disease (CeD) cluster in families and can occur in the same individual. Genetic loci have been associated with susceptibility to both diseases. Our aim was to explore the genetic differences between individuals developing both these diseases (double autoimmunity)

  13. (CH4)-C-14 Measurements in Greenland Ice: Investigating Last Glacial Termination CH4 Sources

    DEFF Research Database (Denmark)

    Petrenko, V. V.; Smith, A. M.; Brook, E. J.

    2009-01-01

    contributions to this increase. We present measurements of (CH4)-C-14 in glacial ice, targeting this transition, performed by using ice samples obtained from an ablation site in west Greenland. Measured (CH4)-C-14 values were higher than predicted under any scenario. Sample (CH4)-C-14 appears to be elevated...

  14. Genetics Home Reference: glycogen storage disease type VI

    Science.gov (United States)

    ... Shin YS, Kilimann MW. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet. 1998 Apr;62(4):785-91. Citation on PubMed or Free article on PubMed Central Chang S, Rosenberg MJ, Morton ...

  15. Type 1 diabetes mellitus and atopic diseases in children.

    African Journals Online (AJOL)

    Ehab

    Adapted from: Stankov K, Benc D, Draskovic D. Genetic and epigenetic factors in etiology of diabetes mellitus type 1. Pediatrics. 2013 Dec .... The prevalence of asthmatic symptoms in the T1D group was clearly lower than in the control group. However, the overall prevalence of atopy was not significantly different in these ...

  16. Generalized metabolic bone disease in Neurofibromatosis type I

    Science.gov (United States)

    Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1), but a generalized metabolic bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical, and pathological level the bone involvement ...

  17. Bone- and bone marrow scintigraphy in Gaucher disease type 1

    Energy Technology Data Exchange (ETDEWEB)

    Mikosch, P. [Dept. of Nuclear Medicine and Endocrinology, State Hospital Klagenfurt (Austria); Dept. of Internal Medicine II, State Hospital Klagenfurt (Austria); Zitter, F. [Dept. of Internal Medicine II, State Hospital Klagenfurt (Austria); Gallowitsch, H.J.; Lind, P. [Dept. of Nuclear Medicine and Endocrinology, State Hospital Klagenfurt (Austria); Wuertz, F. [Dept. of Pathology, State Hospital Klagenfurt (Austria); Mehta, A.B.; Hughes, D.A. [Lysosomal Storage Disorder Unit, Dept. of Academic Haematology, Royal Free and Univ. Coll. Medical School, London (United Kingdom)

    2008-07-01

    Scintigraphy is a method for imaging metabolism and should be viewed as complimentary to morphological imaging. Bone and bone marrow scintigraphy can particularly contribute to the detection of focal disease in Gaucher disease. In bone crises it can discriminate within three days after pain onset between local infection and aseptic necrosis. A further advantage of bone- and bone marrow scintigraphy is the visualization of the whole skeleton within one setting. Whole body imaging for focal lesions might thus be an objective in GD, in particular in patients complaining of several painful sites. Direct imaging of bone marrow deposits in GD by MIBI scintigraphy might be of special interest in children in whom bone marrow undergoes a developmental conversion from red to yellow marrow in the ap-pendicular skeleton. MRI interpretation in young GD patients is thus difficult in order to estimate the exact amount and extent of bone marrow infiltration by Gaucher cells. 99mTc-MIBI scintigraphy with its direct visualization of lipid storage could thus add interesting additional information not shown with other methods including MRI. Although MRI is the most accepted imaging modality in assessing the skeletal status in GD, a selective use of scintigraphy for imaging bone and bone marrow may add information in the evaluation of patients with Gaucher disease.

  18. Bone- and bone marrow scintigraphy in Gaucher disease type 1

    International Nuclear Information System (INIS)

    Mikosch, P.; Zitter, F.; Gallowitsch, H.J.; Lind, P.; Wuertz, F.; Mehta, A.B.; Hughes, D.A.

    2008-01-01

    Scintigraphy is a method for imaging metabolism and should be viewed as complimentary to morphological imaging. Bone and bone marrow scintigraphy can particularly contribute to the detection of focal disease in Gaucher disease. In bone crises it can discriminate within three days after pain onset between local infection and aseptic necrosis. A further advantage of bone- and bone marrow scintigraphy is the visualization of the whole skeleton within one setting. Whole body imaging for focal lesions might thus be an objective in GD, in particular in patients complaining of several painful sites. Direct imaging of bone marrow deposits in GD by MIBI scintigraphy might be of special interest in children in whom bone marrow undergoes a developmental conversion from red to yellow marrow in the ap-pendicular skeleton. MRI interpretation in young GD patients is thus difficult in order to estimate the exact amount and extent of bone marrow infiltration by Gaucher cells. 99mTc-MIBI scintigraphy with its direct visualization of lipid storage could thus add interesting additional information not shown with other methods including MRI. Although MRI is the most accepted imaging modality in assessing the skeletal status in GD, a selective use of scintigraphy for imaging bone and bone marrow may add information in the evaluation of patients with Gaucher disease

  19. Vascular Dysfunction in Glycogen Storage Disease Type I

    Science.gov (United States)

    Bernier, Angelina V.; Correia, Catherine E.; Haller, Michael J.; Theriaque, Douglas W.; Shuster, Jonathan J.; Weinstein, David A.

    2013-01-01

    Objective To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy. Study design Carotid intima media thickness (IMT), radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 control subjects (19F/4M, mean age 23 years). Results The primary outcome measure, mean left distal IMT was greater in the GSD cohort (0.500 ± 0.055 mm) than in the control group (0.457 ± 0.039 mm) (P = .002, adjusted for age, sex, and body mass index). Mean augmentation index measured by radial artery tonometry was higher in the GSD cohort (16.4% ± 14.0%) than in the control group (2.4% ± 8.7%) (P < .001). No significant difference was observed between mean brachial artery reactivity in the GSD cohort (6.3% ± 4.9% change) versus control subjects (6.6% ± 5.1% change) (P = .46). Conclusions GSD I is associated with arterial dysfunction evident by increased IMT and augmentation index. Patients with GSD I may be at increased risk for cardiovascular disease. PMID:19101686

  20. Negative affectivity and social inhibition in cardiovascular disease: evaluating type-D personality and its assessment using item response theory.

    Science.gov (United States)

    Emons, Wilco H M; Meijer, Rob R; Denollet, Johan

    2007-07-01

    Individuals with increased levels of both negative affectivity (NA) and social inhibition (SI)-referred to as type-D personality-are at increased risk of adverse cardiac events. We used item response theory (IRT) to evaluate NA, SI, and type-D personality as measured by the DS14. The objectives of this study were (a) to evaluate the relative contribution of individual items to the measurement precision at the cutoff to distinguish type-D from non-type-D personality and (b) to investigate the comparability of NA, SI, and type-D constructs across the general population and clinical populations. Data from representative samples including 1316 respondents from the general population, 427 respondents diagnosed with coronary heart disease, and 732 persons suffering from hypertension were analyzed using the graded response IRT model. In Study 1, the information functions obtained in the IRT analysis showed that (a) all items had highest measurement precision around the cutoff and (b) items are most informative at the higher end of the scale. In Study 2, the IRT analysis showed that measurements were fairly comparable across the general population and clinical populations. The DS14 adequately measures NA and SI, with highest reliability in the trait range around the cutoff. The DS14 is a valid instrument to assess and compare type-D personality across clinical groups.

  1. Substrate- and Cofactor-independent Inhibition of Histone Demethylase KDM4C

    DEFF Research Database (Denmark)

    Leurs, Ulrike; Lohse, Brian; Rand, Kasper Dyrberg

    2014-01-01

    Inhibition of histone demethylases has within recent years advanced into a new strategy for treating cancer and other diseases. Targeting specific histone demethylases can be challenging as the active sites of KDM1A-B and KDM-4A-D histone demethylases, respectively, are highly conserved. Most...... inhibitors developed up-to-date target either the cofactor- or substrate-binding sites of these enzymes, resulting in a lack of selectivity and off-target effects. This study describes the discovery of the first peptide-based inhibitors of KDM4 histone demethylases that do not share the histone peptide...... sequence, or inhibit through substrate competition. Through screening of DNA-encoded peptide libraries against KDM1 and -4 histone demethylases by phage display, two cyclic peptides targeting the histone demethylase KDM4C were identified and developed as inhibitors by amino acid replacement, truncation...

  2. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.

    Directory of Open Access Journals (Sweden)

    Eugénie Ansseau

    Full Text Available Facioscapulohumeral muscular dystrophy (FSHD is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4 within each D4Z4 unit that encodes a transcription factor expressed in FSHD but not control myoblasts. DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. We have now characterized the homologous DUX4c gene mapped 42 kb centromeric of the D4Z4 repeat array. It encodes a 47-kDa protein with a double homeodomain identical to DUX4 but divergent in the carboxyl-terminal region. DUX4c was detected in primary myoblast extracts by Western blot with a specific antiserum, and was induced upon differentiation. The protein was increased about 2-fold in FSHD versus control myotubes but reached 2-10-fold induction in FSHD muscle biopsies. We have shown by Western blot and by a DNA-binding assay that DUX4c over-expression induced the MYF5 myogenic regulator and its DNA-binding activity. DUX4c might stabilize the MYF5 protein as we detected their interaction by co-immunoprecipitation. In keeping with the known role of Myf5 in myoblast accumulation during mouse muscle regeneration DUX4c over-expression activated proliferation of human primary myoblasts and inhibited their differentiation. Altogether, these results suggested that DUX4c could be involved in muscle regeneration and that changes in its expression could contribute to the FSHD pathology.

  3. Actions of a proline analogue, L-thiazolidine-4-carboxylic acid (T4C, on Trypanosoma cruzi.

    Directory of Open Access Journals (Sweden)

    Anahí Magdaleno

    Full Text Available It is well established that L-proline has several roles in the biology of trypanosomatids. In Trypanosoma cruzi, the etiological agent of Chagas' disease, this amino acid is involved in energy metabolism, differentiation processes and resistance to osmotic stress. In this study, we analyzed the effects of interfering with L-proline metabolism on the viability and on other aspects of the T. cruzi life cycle using the proline analogue L- thiazolidine-4-carboxylic acid (T4C. The growth of epimastigotes was evaluated using different concentrations of T4C in standard culture conditions and at high temperature or acidic pH. We also evaluated possible interactions of this analogue with stress conditions such as those produced by nutrient starvation and oxidative stress. T4C showed a dose-response effect on epimastigote growth (IC(50 = 0.89+/-0.02 mM at 28 degrees C, and the inhibitory effect of this analogue was synergistic (p<0.05 with temperature (0.54+/-0.01 mM at 37 degrees C. T4C significantly diminished parasite survival (p<0.05 in combination with nutrient starvation and oxidative stress conditions. Pre-incubation of the parasites with L-proline resulted in a protective effect against oxidative stress, but this was not seen in the presence of the drug. Finally, the trypomastigote bursting from infected mammalian cells was evaluated and found to be inhibited by up to 56% when cells were treated with non-toxic concentrations of T4C (between 1 and 10 mM. All these data together suggest that T4C could be an interesting therapeutic drug if combined with others that affect, for example, oxidative stress. The data also support the participation of proline metabolism in the resistance to oxidative stress.

  4. Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance

    International Nuclear Information System (INIS)

    Poll, L.W.; Koch, J.A.; Moedder, U.

    2000-01-01

    Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease. (orig.)

  5. The effect of hydrogen on B4C coatings fabrication in inductively coupled plasma torch

    Directory of Open Access Journals (Sweden)

    Q. J. Guo

    2018-02-01

    Full Text Available Boron carbide (B4C coatings are prepared by an RF inductively coupled plasma (ICP torch with different amounts of hydrogen introduced into the sheath gas. The effects of the added hydrogen on the characteristics of the plasma are diagnosed by optical emission spectroscopy and high speed photography. The effects on the melting of B4C particles in the plasma are studied by scanning electron microscopy (SEM. The microstructure of the B4C coatings was determined with SEM imaging and x-ray diffraction analysis. The results show that adding hydrogen to the sheath gas leads to plasma contraction, which results in higher gas temperature of plasma. It also enhances B4C particles spheroidizing and improves the compactness of B4C coatings. Plasma processing does not change the main phase of boron carbide. The obtained results on B4C coatings on Cu substrates allows for improving the B4C coatings fabrication process.

  6. Type 1 diabetes mellitus, coeliac disease, and lymphoma: a report of four cases.

    LENUS (Irish Health Repository)

    O'Connor, T M

    2012-02-03

    INTRODUCTION: Patients with Type 1 diabetes mellitus have a high prevalence of coeliac disease, symptoms of which are often mild, atypical, or absent. Untreated coeliac disease is associated with an increased risk of malignancy, particularly of lymphoma. We describe four patients with Type 1 diabetes mellitus and coeliac disease who developed lymphoma. CASE REPORTS: Two patients were male and two female. In three patients, coeliac disease and lymphoma were diagnosed simultaneously. Enteropathy-associated T cell lymphoma occurred in two patients, Hodgkin\\'s disease in one, and B cell lymphoma in one. Response to treatment was in general poor, and three patients died soon after the diagnosis of lymphoma was made. CONCLUSION: As the relative risk of lymphoma is reduced by a gluten-free diet, a high index of suspicion for coeliac disease should exist in all Type 1 diabetic patients with unexplained constitutional or gastrointestinal symptoms.

  7. Characterization of AKR4C15, a Novel Member of Aldo-Keto Reductase, in Comparison with Other Rice AKR(s).

    Science.gov (United States)

    Auiyawong, Budsakorn; Narawongsanont, Rawint; Tantitadapitak, Chonticha

    2017-08-01

    Environmental stresses often cause a rapid and excessive accumulation of reactive oxygen species (ROS), the toxicity of which is further amplified by downstream aldehyde production. Aldo-keto reductase (AKR) is a group of enzymes metabolizing aldehyde/ketone to the corresponding alcohol using NADPH as the cofactor. In this study, OsI_20197 (AKR4C15), a novel member of AKR4 subfamily C, was isolated and biochemically characterized. Kinetic studies on bacterially-expressed recombinant AKR4C15 revealed that the enzyme was capable of metabolizing a wide variety of aldehydes but clearly exhibited a preference for three carbon compounds, i.e. methylglyoxal, malondialdehyde and glyceraldehyde. In comparison with His-tagged proteins of AKR4C9 from Arabidopsis and several other rice AKR(s): OsI_04426, OsI_04428, OsI_04429, and OsI_15387, AKR4C15 was the one capable of most efficiently metabolizing MDA and had the highest value of catalytic efficiency, which was higher than the value of AKR4C9, approximately, by 30-fold; while its capability of metabolizing MG was on par with AKR4C9, OsI_04426 and OsI_04428 (AKR4C14); and was considerably higher than the activity of OsI_04429 and OsI_15387. In vivo research on transgenic Arabidopsis seedlings ectopically-expressing AKR4C15 showed that the levels of both MDA and MG were also significantly lower than the levels in wild-type seedlings under both normal and stress conditions, emphasizing the role of AKR4C15 in MG and MDA metabolism. In conclusion, AKR4C15, together with OsI_04426 and AKR4C14, may play protective roles against small reactive aldehydes and medium-chain aldehydes.

  8. Compromised quality of life in patients with both Type 1 diabetes mellitus and coeliac disease.

    Science.gov (United States)

    Bakker, S F; Pouwer, F; Tushuizen, M E; Hoogma, R P; Mulder, C J; Simsek, S

    2013-07-01

    Type 1 diabetes mellitus and coeliac disease are two chronic illnesses associated with each other. Both diseases and their treatments can seriously impair quality of life. The objective of the present study was to investigate health-related quality of life in adult patients diagnosed with both Type 1 diabetes and coeliac disease and compare this with healthy control subjects and control subjects who have Type 1 diabetes only. A generic measure of health-related quality of life (RAND-36) and a measure of diabetes-specific quality of life (DQOL) questionnaires were sent to patients diagnosed with both Type 1 diabetes and coeliac disease. The control group consisted of patients with Type 1 diabetes without coeliac disease matched for age, gender and socio-economic status. Generic quality of life scores were compared with data from healthy Dutch control subjects. Fifty-seven patients with Type 1 diabetes and coeliac disease were included and no associations between clinical characteristics and quality of life were observed. Women reported a lower quality of life in social functioning, vitality and mental health than men (all P coeliac disease compared with patients with Type 1 diabetes. Compared with healthy control subjects, quality of life in patients with Type 1 diabetes and coeliac disease was significantly lower, particularly social functioning (Cohen's d = 0.76) and general health perception (Cohen's d = 0.86). The additional diagnosis of coeliac disease and treatment by gluten-free diet in adult patients with Type 1 diabetes has a considerable, negative impact on quality of life and diabetes-specific quality of life. Women are particularly affected and social functioning and general health perception is compromised. © 2013 The Authors. Diabetic Medicine © 2013 Diabetes UK.

  9. Malignant lymphomas in coeliac disease: evidence of increased risks for lymphoma types other than enteropathy-type T cell lymphoma

    Science.gov (United States)

    Smedby, K E; Åkerman, M; Hildebrand, H; Glimelius, B; Ekbom, A; Askling, J

    2005-01-01

    Background: Numerous studies have reported on the association between coeliac disease and the otherwise uncommon enteropathy-type T cell lymphoma (ETTL). A systematic risk assessment of more prevalent lymphoma entities, such as B cell and non-intestinal lymphomas, in coeliac disease has not been performed. Aims: In light of the increasing number of patients diagnosed with coeliac disease and the unknown aetiology of malignant lymphomas, we aimed to estimate the distribution and risk of lymphoma subtypes in coeliac disease. Methods: We reviewed and reclassified 56 cases of incident malignant lymphomas occurring in a Swedish population based cohort of 11 650 patients hospitalised with coeliac disease. The observed numbers of lymphoma subtypes were compared with those expected in the Swedish population. Results: The majority (n = 32, 57%) of lymphomas in the cohort were not intestinal T cell lymphomas. Significantly increased risks were observed for B cell non-Hodgkin lymphoma (NHL) (standardised incidence ratio (SIR) 2.2 (95% confidence interval (CI) 1.2–3.6); 11 non-intestinal and five intestinal) and for lymphomas of non-intestinal origin (SIR 3.6 (95% CI 2.3–5.2), 11 B and 14 T cell). Furthermore, 44% of patients with B cell NHL had a history of other autoimmune/inflammatory diseases. The relative risks for T cell NHL (SIR 51 (95% CI 35–68); n = 37) and for primary gastrointestinal lymphomas (SIR 24 (95% CI 16–34); five B and 25 T cell) were markedly increased, as anticipated. Conclusion: Most lymphomas complicating coeliac disease are indeed related to the disease and are not of the ETTL-type. There was a remarkable aggregation of autoimmune/inflammatory disorders, female sex, coeliac disease, and B cell lymphoma. PMID:15591504

  10. Microstructure Analysis of Neutron Absorber Al/B4C Metal Matrix Composites

    Directory of Open Access Journals (Sweden)

    Jianxin Lin

    2017-12-01

    Full Text Available The microstructure of Al/B4C metal matrix composites (MMCs used as neutron absorbers in both dry storage casks and wet storage pools of spent nuclear fuel was analyzed by SEM and TEM. A polishing method of a focused Ga+ ion beam was used to obtain an ideal sample surface with very low roughness, which was used to statistically analyze the distribution characteristics and size factor of B4C particles in the aluminum matrix. The area of B4C particles mainly ranged from 0 to 0.5 μm2, which was the proportion of 64.29%, 86.99% and 76.86% of total statistical results for the Al-15%B4C, Al-25%B4C and Al-30%B4C MMCs, respectively. The average area of B4C particles in the Al-15%B4C, Al-25%B4C and Al-30%B4C MMCs were about 1.396, 0.528 and 1.183 μm2, respectively. The nanoscale precipitates were analyzed by the element mappings in scanning transmission electron microscopy (STEM mode and electron energy loss spectroscopy (EELS mode, which included elliptic alloy precipitates with elemental Cu, Cr, Fe and Si, except for Al, and B4C nanoparticles with polygonal shape. The interface characteristics showed that the (021 crystal plane of B4C particle and (111 crystal plane of aluminum matrix grew together. The lattice misfit was about 1.68% for (111Al//(021B4C. The corrosion properties and corresponding mechanism of Al/B4C MMCs were investigated in an aqueous solution with 5000 ppm boric acid at 100 °C and atmospheric pressure, which showed that the mass increment rate was first decreased with increasing corrosion time and then increased.

  11. Geophysical investigation of trench 4, Burial Ground 218-W-4C, 200 west area

    International Nuclear Information System (INIS)

    Kiesler, J.P.

    1994-01-01

    This report contains the results of a geophysical investigation conducted to characterize Trench 4, located in Burial Ground 218-W-4C, 200 West Area. Trench 4 is where transuranic (TRU) waste is stored. The primary objective of these geophysical investigations was to determine the outer edges of the trench/modules and select locations for plate-bearing tests. The test locations are to be 5 to 8 ft. beyond the edges of the trench. Secondary objectives include differentiating between the different types of waste containers within a given trench, determining the amount of soil cover over the waste containers, and to locate the module boundaries. Ground-penetrating radar (GPR) and electromagnetic induction (EMI) were the methods selected for this investigation

  12. Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III

    International Nuclear Information System (INIS)

    Abdel Razek, Ahmed Abdel Khalek; Abd El-Gaber, Nahed; Abdalla, Ahmed; Fathy, Abeer; Azab, Ahmed; Rahman, Ashraf Abdel

    2009-01-01

    The aim of this work is to assess the usefulness of apparent diffusion coefficient (ADC) value of the brain for diagnosis of patients with Gaucher's disease type II and type III. Prospective study was conducted upon 13 patients (nine boys and four girls aged 8 months-14 years: mean 6.1 years) with Gaucher's disease type II and III and for age-matched control group (n = 13). Diffusion-weighted magnetic resonance imaging using a single-shot echo-planar imaging with a diffusion-weighted factor b of 0, 500, and 1,000 s/mm 2 was done for all patients and volunteers. The ADC value was calculated in ten regions of the brain parenchyma and correlated with genotyping. There was significantly lower ADC value of the cortical frontal (P = 0.003), cortical temporal (P = 0.04), frontal subcortical white matter (P = 0.02), corticospinal tract (P = 0.001), cerebellum (P = 0.001), medulla (P = 0.002), and midbrain (P = 0.02) between patients and volunteers. There was significant difference in the ADC value of the frontal and temporal gray matter (P = 0.04 and 0.05, respectively) between patients with heterozygous and homozygous gene mutation. We concluded that ADC value is a new promising quantitative imaging parameter that can be used for the detection of brain abnormalities in patients with Gaucher's disease type II and type III and has a correlation with genotyping. (orig.)

  13. Serological testing for coeliac disease in Type 1 diabetes mellitus: is immunoglobulin A level measurement necessary?

    Science.gov (United States)

    Kurien, M; Leeds, J S; Hopper, A D; Wild, G; Egner, W; Tesfaye, S; Hadjivassiliou, M; Sanders, D S

    2013-07-01

    Immunoglobulin A (IgA) measurement is advocated when case finding for coeliac disease in patients with Type 1 diabetes mellitus. Currently, there is a paucity of contemporary studies assessing IgA deficiency in Type 1 diabetes. This study evaluates the prevalence of IgA deficiency in individuals with Type 1 diabetes, compared with patients with coeliac disease and control subjects. In addition, we evaluate whether routine IgA measurement is justifiable when case finding for coeliac disease in patients with Type 1 diabetes. All patients were assessed using IgA endomysial antibodies, IgA anti-tissue transglutaminase antibodies and total IgA levels. Altogether, 2434 individuals were tested: 1000 patients with Type 1 diabetes, 234 patients with coeliac disease and 1200 population control subjects. Definitive IgA deficiency was defined as total IgA levels coeliac disease (1.29%, n = 3/234; P = 0.041) when compared with population control subjects (prevalence of 0.17%, 2/1200). No statistical difference between Type 1 diabetes and coeliac disease for IgA deficiency was identified (P = 0.87). Of patients in the group with Type 1 diabetes, 3.3% (33/1000) had coeliac disease, and of those only one patient had IgA deficiency leading to an antibody-negative presentation. Both IgA-deficient individuals within the population control subjects had normal duodenal biopsies and no relevant symptoms. IgA deficiency is more common in Type 1 diabetes compared with population control subjects. Despite this, very few individuals with Type 1 diabetes and IgA deficiency appear to have villous atrophy on biopsy. These outcomes question the practice of routine IgA measurement when case finding for coeliac disease in patients with Type 1 diabetes. © 2013 The Authors. Diabetic Medicine © 2013 Diabetes UK.

  14. Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV.

    Science.gov (United States)

    Yu, Weiming; Brundler, Marie-Anne; Wright, James R

    2017-01-01

    The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find one prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.

  15. [Epidemic of infectious disease with echovirus type 16--epidemic in Tono area, Gifu Prefecture in 1984].

    Science.gov (United States)

    Miwa, C; Watanabe, Y

    1990-07-01

    During the period from May to August, 1984, an epidemic of infectious disease with echovirus type 16 occurred in Tono area of southeast in Gifu prefecture. This virus caused children to have different clinical symptoms, one was a exanthem disease and another was aseptic meningitis. These cases confirmed by virological and serological methods were 48 cases, that is, patients with aseptic meningitis were 24 cases and patients with exanthem disease were 24 cases. By serological examination of antibody against echovirus type 16, it was confirmed that this virus type invaded Gifu Prefecture before 1984.

  16. Microstructural analyses of B{sub 4}C-CeO{sub 2} and B{sub 4}C-La{sub 2}O{sub 3} ceramics

    Energy Technology Data Exchange (ETDEWEB)

    Sakamoto, Tatsuaki, E-mail: sakamoto.tatsuaki@eng.ehime-u.ac.jp [Department of Materials Science and Biotechnology, Ehime University, 3 Bunkyo-cho, Matsuyama 790-8577 (Japan); Sun, Shu-Chen [School of Materials and Metallurgy, Northeastern University, Shenyang 110004 (China); Furuno, Tomoya; Kajioka, Michio [Graduate Student of Ehime Univerisity, 3 Bunkyo-cho, Matsuyama 790-8577 (Japan); Nakai, Kiyomichi [Department of Materials Science and Biotechnology, Ehime University, 3 Bunkyo-cho, Matsuyama 790-8577 (Japan); Kurishita, Hiroaki [International Research Center for Nuclear Materials Science, Institute for Materials Research, Tohoku University, Oarai, Ibaraki 311-1313 (Japan); Kobayashi, Sengo [Department of Materials Science and Biotechnology, Ehime University, 3 Bunkyo-cho, Matsuyama 790-8577 (Japan); Wu, Wen-Yuan; Tu, Gan-Feng [School of Materials and Metallurgy, Northeastern University, Shenyang 110004 (China); Matsuda, Seiji [Department of Anatomy and Embryology, Ehime University, Shizugawa, Toon 791-0295 (Japan)

    2011-10-01

    Effects of additions of CeO{sub 2} and La{sub 2}O{sub 3} on microstructure and mechanical properties of B{sub 4}C fabricated under and without hot press have been investigated. Vickers hardness and fracture strength are increased by hot press due to the reduction of porosity because the sintering rate is enhanced. Hardness is increased by the reduction of porosity because crack probably occurs when the hardness is measured due to pore as an initiation point of crack. Hardness increases with increasing additions of CeO{sub 2} and La{sub 2}O{sub 3} because porosity decreases due to the formation of CeB{sub 6} and LaB{sub 6} on the grain boundary of B{sub 4}C, respectively. The borides are formed through reaction between solid phases, which might induce coherent boundary between boride and B{sub 4}C. Such coherency also contributes to strengthening the grain boundary of B{sub 4}C. The addition of CeO{sub 2} enhances the sintering rate more than that of La{sub 2}O{sub 3}, resulting in higher hardness of B{sub 4}C-CeO{sub 2} than that of B{sub 4}C-La{sub 2}O{sub 3}.

  17. Stone forming risk factors in patients with type Ia glycogen storage disease.

    Science.gov (United States)

    Scales, Charles D; Chandrashekar, Aravind S; Robinson, Marnie R; Cantor, David A; Sullivan, Jennifer; Haleblian, George E; Leitao, Victor A; Sur, Roger L; Borawski, Kristy M; Koeberl, Dwight; Kishnani, Priya S; Preminger, Glenn M

    2010-03-01

    Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. Patients with type Ia glycogen storage disease were prospectively enrolled from our metabolic clinic. Patient 24-hour urine parameters were compared to those in age and gender matched stone forming controls. We collected 24-hour urine samples from 13 patients with type Ia glycogen storage disease. Average +/- SD age was 27.0 +/- 13.0 years and 6 patients (46%) were male. Compared to age and gender matched hypocitraturic, stone forming controls patients had profound hypocitraturia (urinary citrate 70 vs 344 mg daily, p = 0.009). When comparing creatinine adjusted urinary values, patients had profound hypocitraturia (0.119 vs 0.291 mg/mg creatinine, p = 0.005) and higher oxalate (0.026 vs 0.021 mg/mg creatinine, p = 0.038) vs other stone formers. Patients with type Ia glycogen storage disease have profound hypocitraturia, as evidenced by 24-hour urine collections, even compared to other stone formers. This may be related to a recurrent nephrolithiasis rate greater than in the overall population. These findings may be used to support different treatment modalities, timing and/or doses to prevent urinary lithiasis in patients with type Ia glycogen storage disease. 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Evaluation of Cladribine treatment in refractory celiac disease type II

    Science.gov (United States)

    Tack, Greetje J; Verbeek, Wieke HM; Al-Toma, Abdul; Kuik, Dirk J; Schreurs, Marco WJ; Visser, Otto; Mulder, Chris JJ

    2011-01-01

    AIM: To evaluate cladribine [2-chlorodeoxyadenosine (2-CdA)] therapy in refractory celiac disease (RCD) II. METHODS: An open-label cohort-study of RCD II patients treated with 2-CdA was performed between 2000 and 2010. Survival rate, enteropathy associated T-cell lymphoma (EATL) occurrence, clinical course, and histological and immunological response rates were evaluated. RESULTS: Overall, 32 patients were included with a median follow-up of 31 mo. Eighteen patients responded well to 2-CdA. Patients responsive to 2-CdA had a statistically significant increased survival compared to those who were unresponsive. The overall 3- and 5-year survival was 83% in the responder and 63% and 22% in the non-responder group, respectively. The overall 2-year clinical, histological and immunological response rates were 81%, 47% and 41%, respectively. Progression into EATL was reported in 16%, all of these patients died. CONCLUSION: Treatment of RCD II with 2-CdA holds promise, showing excellent clinical and histological response rates, and probably less frequent transition into EATL. PMID:21274381

  19. Plasma product treatment in various types of von Willebrand's disease.

    Science.gov (United States)

    Berntorp, E

    1994-01-01

    Four different virus-inactivated factor VIII concentrates (Haemate P, Behring; Profilate, Alpha, FVIII-VHP-vWF, CRTS), near-pure von Willebrand factor (Facteur Willebrand, CRTS) or one recombinant FVIII preparation (Recombinate, Baxter) were given to one or more patients with different forms of von Willebrand's disease. Duke bleeding time, VIII:C, vWF:Ag, RC of activity, and the multimeric pattern of plasma vWF were monitored. Both Duke bleeding time and the multimeric pattern were normalized after treatment with Haemate P, FVIII-VHP-vWF, or Facteur Willebrand, and to a lesser extent after Profilate. Except in one case, the reduction in bleeding time lasted longer after Haemate P than after the other concentrates. Recombinate had no effect on primary hemostasis, and the half-life of VIII:C was very short. If prompt hemostasis is required, and when pharmacological correction of the defect is impossible, we recommend a concentrate containing both FVIII and the full complement of vWF multimers, but for prophylactic treatment pure von Willebrand factor may be used.

  20. The immunoregulatory role of type I and type II NKT cells in cancer and other diseases

    Science.gov (United States)

    Terabe, Masaki; Berzofsky, Jay A.

    2014-01-01

    NKT cells are CD1d-restricted T cells that recognize lipid antigens. They also have been shown to play critical roles in the regulation of immune responses. In the immune responses against tumors, two subsets of NKT cells, type I and type II, play opposing roles and cross-regulate each other. As members of both the innate and adaptive immune systems, which form a network of multiple components, they also interact with other immune components. Here we discuss the function of NKT cells in tumor immunity and their interaction with other regulatory cells, especially CD4+CD25+Foxp3+ regulatory T cells. PMID:24384834

  1. 4Cin: A computational pipeline for 3D genome modeling and virtual Hi-C analyses from 4C data.

    Science.gov (United States)

    Irastorza-Azcarate, Ibai; Acemel, Rafael D; Tena, Juan J; Maeso, Ignacio; Gómez-Skarmeta, José Luis; Devos, Damien P

    2018-03-01

    The use of 3C-based methods has revealed the importance of the 3D organization of the chromatin for key aspects of genome biology. However, the different caveats of the variants of 3C techniques have limited their scope and the range of scientific fields that could benefit from these approaches. To address these limitations, we present 4Cin, a method to generate 3D models and derive virtual Hi-C (vHi-C) heat maps of genomic loci based on 4C-seq or any kind of 4C-seq-like data, such as those derived from NG Capture-C. 3D genome organization is determined by integrative consideration of the spatial distances derived from as few as four 4C-seq experiments. The 3D models obtained from 4C-seq data, together with their associated vHi-C maps, allow the inference of all chromosomal contacts within a given genomic region, facilitating the identification of Topological Associating Domains (TAD) boundaries. Thus, 4Cin offers a much cheaper, accessible and versatile alternative to other available techniques while providing a comprehensive 3D topological profiling. By studying TAD modifications in genomic structural variants associated to disease phenotypes and performing cross-species evolutionary comparisons of 3D chromatin structures in a quantitative manner, we demonstrate the broad potential and novel range of applications of our method.

  2. Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients.

    Directory of Open Access Journals (Sweden)

    Eric Manderstedt

    Full Text Available von Willebrand factor (VWF levels in healthy individuals and in patients with type 1 von Willebrand disease (VWD are influenced by genetic variation in several genes, e.g. VWF, ABO, STXBP5 and CLEC4M. This study aims to screen comprehensively for CLEC4M variants and investigate their association with type 1 VWD in the Swedish population. In order to screen for CLEC4M variants, the CLEC4M gene region was re-sequenced and the polymorphic neck region was genotyped in 106 type 1 VWD patients from unrelated type 1 VWD families. Single nucleotide variants (SNV and variable number tandem repeat (VNTR allele and genotype frequencies were then compared with 294 individuals from the 1000Genomes project and 436 Swedish control individuals. Re-sequencing identified a total of 42 SNVs. Rare variants showed no accumulation in type 1 VWD patients and are not thought to contribute substantially to type 1 VWD. The only missense mutation (rs2277998, NP_001138379.1:p.Asp224Asn had a higher frequency in type 1 VWD patients than in controls (4.9%. The VNTR genotypes 57 and 67 were observed at higher frequencies than expected in type 1 VWD patients (6.4% and 6.2% and showed an increase in patients compared with controls (7.4% and 3.1%. Strong linkage disequilibrium in the CLEC4M region makes it difficult to distinguish between the effect of the missense mutation and the VNTR genotypes. In conclusion, heterozygous VNTR genotypes 57 and 67 of CLEC4M were highly enriched and are the most likely mechanism through which CLEC4M contributes to disease in the Swedish type 1 VWD population.

  3. Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report

    OpenAIRE

    XIAO, HUA; BIAN, JIANMIN; ZHANG, LEI; WANG, ZHAOMING; DING, AIXING

    2014-01-01

    Glycogen storage disease type Ia (GSD-Ia; also termed von Gierke disease) is an inherited metabolic disorder resulting from a glucose-6-phosphatase deficiency. Liver transplantation is considered to be the most effective treatment for GSD-Ia patients. In the present study, the case of a patient with GSD-Ia who received a liver transplantation at 17 years of age is presented. During the 12 years following transplantation, the patient’s quality of life markedly improved. However, recently, the ...

  4. Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review.

    NARCIS (Netherlands)

    Cup, E.H.C.; Pieterse, A.J.; Broek-Pastoor, J.M.C. ten; Munneke, M.; Engelen, B.G.M. van; Hendricks, H.T.; Wilt, G.J. van der; Oostendorp, R.A.B.

    2007-01-01

    OBJECTIVE: To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD). DATA SOURCES: Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews, Medline, CINAHL,

  5. Appropriate clinical use of human leukocyte antigen typing for coeliac disease: an Australasian perspective

    Science.gov (United States)

    Tye-Din, J A; Cameron, D J S; Daveson, A J; Day, A S; Dellsperger, P; Hogan, C; Newnham, E D; Shepherd, S J; Steele, R H; Wienholt, L; Varney, M D

    2015-01-01

    The past decade has seen human leukocyte antigen (HLA) typing emerge as a remarkably popular test for the diagnostic work-up of coeliac disease with high patient acceptance. Although limited in its positive predictive value for coeliac disease, the strong disease association with specific HLA genes imparts exceptional negative predictive value to HLA typing, enabling a negative result to exclude coeliac disease confidently. In response to mounting evidence that the clinical use and interpretation of HLA typing often deviates from best practice, this article outlines an evidence-based approach to guide clinically appropriate use of HLA typing, and establishes a reporting template for pathology providers to improve communication of results. PMID:25827511

  6. Medical-Nutritional Intervention in a Jordanian Child with Glycogen Storage Disease Type IIIA: Case Report

    Directory of Open Access Journals (Sweden)

    Al-Zeidaneen Safaa A.

    2017-12-01

    Full Text Available Background: Glycogen storage disease (GSD type IIIa is a rare inborn error of metabolism characterized by a deficiency in glycogen disbranching enzymes. Nutritional intervention is a cornerstone in the medical care plane.

  7. Episodes of breathlessness: types and patterns: a qualitative study exploring experiences of patients with advanced diseases

    NARCIS (Netherlands)

    Simon, S.T.; Higginson, I.J.; Benalia, H.; Gysels, M.; Murtagh, F.E.M.; Spicer, J.; Bausewein, C.

    2013-01-01

    Background: Despite the high prevalence and impact of episodic breathlessness, information about characteristics and patterns is scarce. Aim: To explore the experience of patients with advanced disease suffering from episodic breathlessness, in order to describe types and patterns. Design and

  8. MIXED HYALINE VASCULAR AND PLASMA CELL TYPE CASTLEMAN’S DISEASE: REPORT OF A CASE

    Directory of Open Access Journals (Sweden)

    F. Asgarani

    2006-05-01

    Full Text Available Castleman’s disease (angiofollicular lymphoid hyperplasia includes a heterogeneous group of lymphoproliferative disorders. The cause of this disease remains uncertain. There are two types of localized Castleman’s disease: the more common hyaline vascular and the plasma cell types. Mixed variant is an uncommon localized lesion in general population. The lesions can occur in any part of the body that contains lymphoid tissue, although seventy percent are found in the anterior mediastinum. We report a thirty years old boy with Castleman’s disease who presented with fever, anorexia, weight loss,sweating, anemia and abdominal mass. The histologic examination of the biopsy specimens revealed a mixed hyaline vascular and plasma cell type of Castleman’s disease.

  9. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Motley, William W; Palaima, Paulius; Yum, Sabrina W; Gonzalez, Michael A; Tao, Feifei; Wanschitz, Julia V; Strickland, Alleene V; Löscher, Wolfgang N; De Vriendt, Els; Koppi, Stefan; Medne, Livija; Janecke, Andreas R; Jordanova, Albena; Zuchner, Stephan; Scherer, Steven S

    2016-06-01

    We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications

    Energy Technology Data Exchange (ETDEWEB)

    Sibille, A.; Eng, C.M.; Kim, S.J.; Pastores, G. (Mount Sinai School of Medicine, New York, NY (United States)); Grabowski, G.A. (Mount Sinai School of Medicine, New York, NY (United States) Univ. of Cincinnati, OH (United States))

    1993-06-01

    Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among Ashkenazi Jews. Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. To test the hypothesis that this phenotypic variability was due to genetic compounds of several different mutant alleles, 161 symptomatic patients with Gaucher disease type 1 (> 90% Ashkenazi Jewish) were analyzed for clinical involvement, and their genotypes were determined. Qualitative and quantitative measures of disease involvement included age at onset of the disease manifestations, hepatic and splenic volumes, age at splenectomy, and severity of bony disease. High statistically significant differences (P < .005) were found in each clinical parameter in patients with the N370S/N370S genotype compared with those patients with the N370S/84GG, N370S/L444P, and N370/ genotypes. The symptomatic N370S homozygotes had onset of their disease two to three decades later than patients with the other genotypes. In addition, patients with the latter genotypes have much more severely involved livers, spleens, and bones and had a higher incidence of splenectomy at an earlier age. These predictive genotype analyses provide the basis for genetic care delivery and therapeutic recommendations in patients affected with Gaucher disease type 1. 38 refs., 1 fig., 4 tabs.

  11. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature

    NARCIS (Netherlands)

    Biegstraaten, M.; van Schaik, I. N.; Aerts, J. M. F. G.; Hollak, C. E. M.

    2008-01-01

    Gaucher disease is a lysosomal storage disorder, which is classically divided into three types. Type I Gaucher disease is differentiated from types II and III disease by the absence of nervous system involvement. However, an increasing number of reports has emerged on neurological manifestations in

  12. Na+entry through heteromeric TRPC4/C1 channels mediates (-)Englerin A-induced cytotoxicity in synovial sarcoma cells.

    Science.gov (United States)

    Muraki, Katsuhiko; Ohnishi, Kaori; Takezawa, Akiho; Suzuki, Hiroka; Hatano, Noriyuki; Muraki, Yukiko; Hamzah, Nurasyikin; Foster, Richard; Waldmann, Herbert; Nussbaumer, Peter; Christmann, Mathias; Bon, Robin S; Beech, David J

    2017-12-05

    The sesquiterpene (-)Englerin A (EA) is an organic compound from the plant Phyllanthus engleri which acts via heteromeric TRPC4/C1 channels to cause cytotoxicity in some types of cancer cell but not normal cells. Here we identified selective cytotoxicity of EA in human synovial sarcoma cells (SW982 cells) and investigated the mechanism. EA induced cation channel current (Icat) in SW982 cells with biophysical characteristics of heteromeric TRPC4/C1 channels. Inhibitors of homomeric TRPC4 channels were weak inhibitors of the Icat and EA-induced cytotoxicity whereas a potent inhibitor of TRPC4/C1 channels (Pico145) strongly inhibited Icat and cytotoxicity. Depletion of TRPC1 converted Icat into a current with biophysical and pharmacological properties of homomeric TRPC4 channels and depletion of TRPC1 or TRPC4 suppressed the cytotoxicity of EA. A Na + /K + -ATPase inhibitor (ouabain) potentiated EA-induced cytotoxicity and direct Na + loading by gramicidin-A caused Pico145-resistant cytotoxicity in the absence of EA. We conclude that EA has a potent cytotoxic effect on human synovial sarcoma cells which is mediated by heteromeric TRPC4/C1 channels and Na + loading.

  13. Prognostic impact of electrocardiographic signs in patients with Type 2 diabetes and cardiovascular disease

    DEFF Research Database (Denmark)

    Pfister, R; Cairns, R; Erdmann, E

    2011-01-01

    Although a resting electrocardiograph is broadly applied in clinical practice for evaluating patients with Type 2 diabetes and cardiovascular disease, the independent prognostic relevance of electrocardiographic signs has not thoroughly been examined.......Although a resting electrocardiograph is broadly applied in clinical practice for evaluating patients with Type 2 diabetes and cardiovascular disease, the independent prognostic relevance of electrocardiographic signs has not thoroughly been examined....

  14. On the Merging Cluster Abell 578 and Its Central Radio Galaxy 4C+67.13

    Science.gov (United States)

    Hagino, K.; Stawarz, Ł.; Siemiginowska, A.; Cheung, C. C.; Kozieł-Wierzbowska, D.; Szostek, A.; Madejski, G.; Harris, D. E.; Simionescu, A.; Takahashi, T.

    2015-06-01

    Here we analyze radio, optical, and X-ray data for the peculiar cluster Abell 578. This cluster is not fully relaxed and consists of two merging sub-systems. The brightest cluster galaxy (BCG), CGPG 0719.8+6704, is a pair of interacting ellipticals with projected separation ˜10 kpc, the brighter of which hosts the radio source 4C+67.13. The Fanaroff-Riley type-II radio morphology of 4C+67.13 is unusual for central radio galaxies in local Abell clusters. Our new optical spectroscopy revealed that both nuclei of the CGPG 0719.8+6704 pair are active, albeit at low accretion rates corresponding to the Eddington ratio ˜ {{10}-4} (for the estimated black hole masses of ˜ 3× {{10}8} {{M}⊙ } and ˜ {{10}9} {{M}⊙ }). The gathered X-ray (Chandra) data allowed us to confirm and to quantify robustly the previously noted elongation of the gaseous atmosphere in the dominant sub-cluster, as well as a large spatial offset (˜60 kpc projected) between the position of the BCG and the cluster center inferred from the modeling of the X-ray surface brightness distribution. Detailed analysis of the brightness profiles and temperature revealed also that the cluster gas in the vicinity of 4C+67.13 is compressed (by a factor of about ˜1.4) and heated (from ≃ 2.0 keV up to 2.7 keV), consistent with the presence of a weak shock (Mach number ˜1.3) driven by the expanding jet cocoon. This would then require the jet kinetic power of the order of ˜ {{10}45} erg s-1, implying either a very high efficiency of the jet production for the current accretion rate, or a highly modulated jet/accretion activity in the system. Based on service observations made with the WHT operated on the island of La Palma by the Isaac Newton Group in the Spanish Observatorio del Roque de los Muchachos of the Instituto de Astrofísica de Canarias.

  15. Non-alcoholic fatty liver disease and associated factors among type ...

    African Journals Online (AJOL)

    Background: Non-alcoholic Fatty Liver Disease (NAFLD) among type 2 diabetic patients is completely ignored in developing regions like Africa paving the way for public health and economic burden in the region. Therefore, the main objective of this research was to evaluate non-alcoholic fatty liver disease and associated

  16. Experimental transmission of systemic AA amyloidosis in autoimmune disease and type 2 diabetes mellitus model mice

    Science.gov (United States)

    Maeda, Mayuko; Murakami, Tomoaki; Muhammad, Naeem; Inoshima, Yasuo; Ishiguro, Naotaka

    2016-01-01

    AA amyloidosis is a protein misfolding disease characterized by extracellular deposition of amyloid A (AA) fibrils. AA amyloidosis has been identified in food animals, and it has been postulated that AA amyloidosis may be transmissible to different animal species. Since the precursor protein of AA fibrils is serum amyloid A (SAA), which is an inflammatory acute phase protein, AA amyloidosis is considered to be associated with inflammatory diseases such as rheumatoid arthritis. Chronic diseases such as autoimmune disease and type 2 diabetes mellitus could be potential factors for AA amyloidosis. In this study, to examine the relationship between the induction of AA amyloidosis and chromic abnormalities such as autoimmune disease or type 2 diabetes mellitus, amyloid fibrils from mice, cattle, or chickens were experimentally injected into disease model mice. Wild-type mice were used as controls. The concentrations of SAA, IL-6, and IL-10 in autoimmune disease model mice were higher than those of control mice. However, induction of AA amyloidosis in autoimmune disease and type 2 diabetes mellitus model mice was lower than that in control mice, and the amount of amyloid deposits in the spleens of both mouse models was lower than that of control mice according to Congo red staining and immunohistochemistry. These results suggest that factors other than SAA levels, such as an inflammatory or anti-inflammatory environment in the immune response, may be involved in amyloid deposition. PMID:27321428

  17. Neuromuscular Hip Dysplasia in Charcot-Marie-Tooth Disease Type 1A

    Science.gov (United States)

    Bamford, Nigel S.; White, Klane K.; Robinett, Stephanie A.; Otto, Randolph K.; Gospe, Sidney M., Jr.

    2009-01-01

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and…

  18. Compromised quality of life in patients with both Type 1 diabetes mellitus and coeliac disease

    NARCIS (Netherlands)

    Bakker, S.; Pouwer, F.; Tushuizen, M.E.; Hoogma, R.P.; Mulder, C.J.; Simsek, S.

    2013-01-01

    Aims Type 1 diabetes mellitus and coeliac disease are two chronic illnesses associated with each other. Both diseases and their treatments can seriously impair quality of life. The objective of the present study was to investigate health-related quality of life in adult patients diagnosed with both

  19. Risk factors and treatment of pediatric chronic diseases : Type 1 diabetes, asthma and allergy

    NARCIS (Netherlands)

    Ahmadizar, F.

    2016-01-01

    Chronic diseases such as type 1 diabetes (T1DM) and asthma are leading causes of morbidity and mortality worldwide. The increase in the number of children with chronic diseases is a major concern. Early detection through improved screening and diagnostic tests, better diagnosis based on updated

  20. Non alcoholic fatty liver disease in a Nigerian population with type II ...

    African Journals Online (AJOL)

    Introduction: Worldwide, Non-alcoholic fatty liver disease (NAFLD) has become an important cause of chronic liver disease and cardiovascular morbidity, even more so in subjects with Type II Diabetes Mellitus (T2DM). The aim of this study was to determine the prevalence and risk factors of NAFLD in an African population ...

  1. Liver transplantation for glycogen storage disease types I, III, and IV

    NARCIS (Netherlands)

    Matern, D; Starzl, TE; Arnaout, W; Barnard, J; Bynon, JS; Dhawan, A; Emond, J; Haagsma, EB; Hug, G; Lachaux, A; Smit, GPA; Chen, YT

    1999-01-01

    Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation. Early diagnosis and initiation of effective dietary therapy

  2. Reduction of Melatonin Level in Patients with Type II Diabetes and Periodontal Diseases.

    Science.gov (United States)

    Abdolsamadi, Hamidreza; Goodarzi, Mohammad Taghi; Ahmadi Motemayel, Fatemeh; Jazaeri, Mina; Feradmal, Javad; Zarabadi, Mahdiyeh; Hoseyni, Mostafa; Torkzaban, Parviz

    2014-01-01

    Background and aims. Melatonin is a circulating hormone that is mainly released from the pineal gland. It possesses antioxidant, free-radical scavenging, and immune-enhancing properties. A growing number of studies reveal a complex role for melatonin in influencing various diseases, including diabetes and periodontal diseases. The aim of this study was to examine the possible links between salivary melatonin levels and type II diabetes and periodontal diseases. Materials and methods. A total of 30 type II diabetic patients, 30 patients with periodontal diseases, 30 type II diabetic patients with periodontal disease and 30 age- and BMI-matched controls were studied. The periodontal status was evaluated by the Community Periodontal Index (CPI). Salivary melatonin levels were determined by a commercial enzyme-linked immunosorbent assay (ELISA) kit. Results. The mean of salivary melatonin level was significantly lower in patients with either periodontitis or diabetes compared to healthy subjects (P periodontitis patients, and then decreased reaching the lowest levels in type II diabetic patients with periodontal disease. Conclusion. Based on the results of this study, it can probably be concluded that salivary level of melatonin has an important role in the pathogenesis of diabetes and periodontal diseases. It is also worth noting that this factor could probably be used as a pivotal biological marker in the diagnosis and possible treatment of these diseases, although further research is required to validate this hypothesis.

  3. Experimental transmission of systemic AA amyloidosis in autoimmune disease and type 2 diabetes mellitus model mice.

    Science.gov (United States)

    Maeda, Mayuko; Murakami, Tomoaki; Muhammad, Naeem; Inoshima, Yasuo; Ishiguro, Naotaka

    2016-11-01

    AA amyloidosis is a protein misfolding disease characterized by extracellular deposition of amyloid A (AA) fibrils. AA amyloidosis has been identified in food animals, and it has been postulated that AA amyloidosis may be transmissible to different animal species. Since the precursor protein of AA fibrils is serum amyloid A (SAA), which is an inflammatory acute phase protein, AA amyloidosis is considered to be associated with inflammatory diseases such as rheumatoid arthritis. Chronic diseases such as autoimmune disease and type 2 diabetes mellitus could be potential factors for AA amyloidosis. In this study, to examine the relationship between the induction of AA amyloidosis and chromic abnormalities such as autoimmune disease or type 2 diabetes mellitus, amyloid fibrils from mice, cattle, or chickens were experimentally injected into disease model mice. Wild-type mice were used as controls. The concentrations of SAA, IL-6, and IL-10 in autoimmune disease model mice were higher than those of control mice. However, induction of AA amyloidosis in autoimmune disease and type 2 diabetes mellitus model mice was lower than that in control mice, and the amount of amyloid deposits in the spleens of both mouse models was lower than that of control mice according to Congo red staining and immunohistochemistry. These results suggest that factors other than SAA levels, such as an inflammatory or anti-inflammatory environment in the immune response, may be involved in amyloid deposition.

  4. Cardiovascular risk factors and diseases precede oral hypoglycaemic therapy in patients with type 2 diabetes mellitus

    NARCIS (Netherlands)

    Erkens, JA; Herings, RMC; Stolk, RP; Spoelstra, JA; Grobbee, DE; Leufkens, HGM

    Although patients with type 2 diabetes mellitus and cardiovascular disease share common risk factors, the link between these diseases remains largely unexplained. In this case-control study, the earlier use of cardiovascular drugs (before the diagnosis of diabetes) was investigated among cases with

  5. Tight Junctions, Intestinal Permeability, and Autoimmunity Celiac Disease and Type 1 Diabetes Paradigms

    NARCIS (Netherlands)

    Visser, Jeroen; Rozing, Jan; Sapone, Anna; Lammers, Karen; Fasano, Alessio; Fromm, M; Schulzke, JD

    2009-01-01

    Autoimmune diseases are characterized by tissue damage and loss of function due to an immune response that is directed against specific organs. This review is focused on celiac disease (CD), an autoimmune enteropathy, and type I diabetes (TID), a hyperglycosaemia caused by a destructive autoimmune

  6. Investigation of the type, frequency, and sex distribution of fistulas in Crohn's disease

    International Nuclear Information System (INIS)

    Kulke, H.; Kasper, H.; Auer, I.

    1987-01-01

    Various types of fistula development are described in a population of 206 patients with a pravious diagnosis of Crohn's disease. In addition, the frequency of occurence of Crohn's disease in a population and the frequency of Crohn's reoccurrence for a given patient is reported. Furthermore a subdivision of patients with respect to sex is possible. (orig.) [de

  7. 32 CFR 1630.42 - Class 4-C: Alien or dual national.

    Science.gov (United States)

    2010-07-01

    ... 32 National Defense 6 2010-07-01 2010-07-01 false Class 4-C: Alien or dual national. 1630.42... CLASSIFICATION RULES § 1630.42 Class 4-C: Alien or dual national. In Class 4-C shall be placed any registrant who... service in the United States. (b) Is an alien and who has departed from the United States prior to being...

  8. Differences Characteristics Patients Diabetes Mellitus Type 2 with and without Coronary Heart Disease

    Directory of Open Access Journals (Sweden)

    Nindara Citra Aquarista

    2017-04-01

    Full Text Available Diabetes mellitus is the third highest Non-Communicable Diseases (NCDs, which causes death in Indonesia.The incidence of coronary heart disease in diabetes mellitus is high, 65% of people with diabetes mellitus die due to coronary heart disease and stroke. The purpose of this study is to analyze the differences in the characteristics of Diabetes mellitus type 2 in patients with and without coronary heart disease in Haji General Hospital Surabaya year 2016. This research uses observational analysis with cross sectional study design. The subject of the study is the incidence of diabetes Mellitus type 2 with and without coronary heart disease with undergoing outpatient treatment at Haji General Hospital Surabaya year 2016. The Samples were taken by fixed-disease sampling method with 42 people as the samples. The data analysis uses Chi Square test. The results show for the independent variables that have the most significant difference inHaji General Hospital Surabaya year 2016 is smoking behavior (p = 0.00; PR = 7.85; 95% CI = 2.09 to 29.50 and hypertension (p = 0,002; PR = 3.51; 95% CI = 1.42 to 8.67. In conclusion, the smoking behavior and hypertension can lead to complications of coronary heart disease for patients with type in Diabetes Mellitus type 2 in Haji General Hospital year 2016. It needs awareness to check blood pressure regularly and eliminate the smoking habit as the prevention of complications of coronary heart disease for patients with diabetes mellitus type 2. Keywords: diabetes mellitus type 2, coronary hearth disease.

  9. PARTICLE SIZE-DEPENDENT PULVERIZATION OF B4C AND GENERATION OF B4C/STS NANOPARTICLES USED FOR NEUTRON ABSORBING COMPOSITES

    Directory of Open Access Journals (Sweden)

    JAEWOO KIM

    2014-10-01

    Full Text Available Pulverization of two different sized micro-B4C particles (∼10 μm and ∼150 μm was investigated using a STS based high energy ball milling system. Shapes, generation of the impurities, and reduction of the particle size dependent on milling time and initial particle size were investigated using various analytic tools including SEM-EDX, XRD, and ICP-MS. Most of impurity was produced during the early stage of milling, and impurity content became independent on the milling time after the saturation. The degree of particle size reduction was also dependent on the initial B4C size. It was found that the STS nanoparticles produced from milling is strongly bounded with the B4C particles forming the B4C/STS composite particles that can be used as a neutron absorbing nanocomposite. Based on the morphological evolution of the milled particles, a schematic pulverization model for the B4C particles was constructed.

  10. Metabolic syndrome and incidence of type 2 diabetes in patients with manifest vascular disease

    NARCIS (Netherlands)

    Wassink, A.M.J.; Graaf, van der Y.; Soedamah-Muthu, S.S.; Spiering, W.; Visseren, F.L.J.

    2008-01-01

    Risk reduction in patients with clinically manifest vascular disease focuses on preventing new vascular events and not on prevention of type 2 diabetes. However, given the common pathophysiological pathways involved in the development of atherosclerosis and type 2 diabetes, it is probable that

  11. Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Gaede, Peter; Vedel, Pernille; Larsen, Nicolai

    2003-01-01

    Cardiovascular morbidity is a major burden in patients with type 2 diabetes. In the Steno-2 Study, we compared the effect of a targeted, intensified, multifactorial intervention with that of conventional treatment on modifiable risk factors for cardiovascular disease in patients with type 2...... diabetes and microalbuminuria....

  12. Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib

    NARCIS (Netherlands)

    Correia, Catherine E.; Bhattacharya, Kaustuv; Lee, Philip J.; Shuster, Jonathan J.; Theriaque, Douglas W.; Shankar, Meena N.; Smit, G. Peter A.; Weinstein, David A.

    2008-01-01

    Background: Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase resulting in severe fasting hypoglycemia. Objective: We compared the efficacy of a new modified starch with the currently used cornstarch therapy in patients with type Ia and Ib GSD. Design: This was

  13. Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Gaede, Peter; Vedel, Pernille; Larsen, Nicolai

    2003-01-01

    Cardiovascular morbidity is a major burden in patients with type 2 diabetes. In the Steno-2 Study, we compared the effect of a targeted, intensified, multifactorial intervention with that of conventional treatment on modifiable risk factors for cardiovascular disease in patients with type 2 diabe...

  14. The influence of cardiovascular disease on quality of life in type 2 diabetics.

    Science.gov (United States)

    de Visser, C L; Bilo, H J G; Groenier, K H; de Visser, W; Jong Meyboom-de, B

    2002-05-01

    In type 2 diabetes mellitus, disease-related complications have a considerable effect on the quality of life. We studied the influence of cardiovascular disease on quality of life in type 2 diabetic patients in a longitudinal design. We also studied whether quality of life in any way predicts the manifestation of cardiovascular disease. A prospective cohort study from April 1996 to October 1999. In 1996 and 1999 all known type 2 diabetics from the population of Urk, the Netherlands, were invited by their general practitioners (GPs) for extensive check-up. In both years quality of life was assessed using the generic RAND-36 and the disease-specific Diabetes Health Profile (DHP). In the intermediate period, cardiovascular morbidity and mortality were registered by the GPs. In 1996, 281 patients were examined and 248 (88.3%) persons completed the questionnaires. After 3 years 189 persons (67.3%) were re-examined and 161 (85.2%) handed in the questionnaire. When compared to diabetics without cardiovascular disease, diabetics with cardiovascular disease had a lower quality of life. Multiple regression analysis showed that contracting cardiovascular disease negatively affects the RAND-36 dimensions 'social functioning', 'vitality' and 'health change'. Cox's regression analysis showed a negative relation between the RAND-36 dimensions 'physical functioning', and time to the manifestation of cardiovascular disease. The DHP appeared not to be suitable to measure quality of life in relation to cardiovascular disease. In type 2 diabetics, cardiovascular disease has a negative effect on quality of life. A decreased quality of life is associated with a short-term manifestation of cardiovascular disease.

  15. Empagliflozin and Clinical Outcomes in Patients With Type 2 Diabetes Mellitus, Established Cardiovascular Disease, and Chronic Kidney Disease.

    Science.gov (United States)

    Wanner, Christoph; Lachin, John M; Inzucchi, Silvio E; Fitchett, David; Mattheus, Michaela; George, Jyothis; Woerle, Hans J; Broedl, Uli C; von Eynatten, Maximilian; Zinman, Bernard

    2018-01-09

    Empagliflozin, a sodium-glucose cotransporter 2 inhibitor, reduced cardiovascular morbidity and mortality in patients with type 2 diabetes mellitus and established cardiovascular disease in the EMPA-REG OUTCOME trial (Empagliflozin Cardiovascular Outcome Event Trial in Type 2 Diabetes Mellitus Patients). Urinary glucose excretion with empagliflozin decreases with declining renal function, resulting in less potency for glucose lowering in patients with kidney disease. We investigated the effects of empagliflozin on clinical outcomes in patients with type 2 diabetes mellitus, established cardiovascular disease, and chronic kidney disease. Patients with type 2 diabetes mellitus, established cardiovascular disease, and estimated glomerular filtration rate (eGFR) ≥30 mL·min -1 ·1.73 m -2 at screening were randomized to receive empagliflozin 10 mg, empagliflozin 25 mg, or placebo once daily in addition to standard of care. We analyzed cardiovascular death, hospitalization for heart failure, all-cause hospitalization, and all-cause mortality in patients with prevalent kidney disease (defined as eGFR 300 mg/g) at baseline. Additional analyses were performed in subgroups by baseline eGFR (300, 30-≤300, 10 years, 58% were receiving insulin, and 84% were taking angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. In patients with prevalent kidney disease at baseline, empagliflozin reduced the risk of cardiovascular death by 29% compared with placebo (hazard ratio [HR], 0.71; 95% confidence interval [CI], 0.52-0.98), the risk of all-cause mortality by 24% (HR, 0.76; 95% CI, 0.59-0.99), the risk of hospitalization for heart failure by 39% (HR, 0.61; 95% CI, 0.42-0.87), and the risk of all-cause hospitalization by 19% (HR, 0.81; 95% CI, 0.72-0.92). Effects of empagliflozin on these outcomes were consistent across categories of eGFR and urine albumin-creatinine ratio at baseline and across the 2 doses studied. The adverse event profile of empagliflozin

  16. Type 2 diabetes and cardiovascular disease: Have all risk factors the same strength?

    Science.gov (United States)

    Martín-Timón, Iciar; Sevillano-Collantes, Cristina; Segura-Galindo, Amparo; del Cañizo-Gómez, Francisco Javier

    2014-01-01

    Diabetes mellitus is a chronic condition that occurs when the body cannot produce enough or effectively use of insulin. Compared with individuals without diabetes, patients with type 2 diabetes mellitus have a considerably higher risk of cardiovascular morbidity and mortality, and are disproportionately affected by cardiovascular disease. Most of this excess risk is it associated with an augmented prevalence of well-known risk factors such as hypertension, dyslipidaemia and obesity in these patients. However the improved cardiovascular disease in type 2 diabetes mellitus patients can not be attributed solely to the higher prevalence of traditional risk factors. Therefore other non-traditional risk factors may be important in people with type 2 diabetes mellitus. Cardiovascular disease is increased in type 2 diabetes mellitus subjects due to a complex combination of various traditional and non-traditional risk factors that have an important role to play in the beginning and the evolution of atherosclerosis over its long natural history from endothelial function to clinical events. Many of these risk factors could be common history for both diabetes mellitus and cardiovascular disease, reinforcing the postulate that both disorders come independently from “common soil”. The objective of this review is to highlight the weight of traditional and non-traditional risk factors for cardiovascular disease in the setting of type 2 diabetes mellitus and discuss their position in the pathogenesis of the excess cardiovascular disease mortality and morbidity in these patients. PMID:25126392

  17. Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report.

    Science.gov (United States)

    Baş, Firdevs; Kabataş-Eryilmaz, Sema; Günöz, Hülya; Darendeliler, Feyza; Küçükemre, Banu; Bundak, Rüveyde; Saka, Nurçin

    2009-01-01

    It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.

  18. Charcot Marie Tooth disease type 4J with complex central nervous system features.

    Science.gov (United States)

    Orengo, James P; Khemani, Pravin; Day, John W; Li, Jun; Siskind, Carly E

    2018-02-01

    We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) - the most common Charcot Marie Tooth disease type 4J variant - and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.

  19. Heat release from B4C oxidation in steam and air

    International Nuclear Information System (INIS)

    Belovsky, L.

    1996-01-01

    BWR and some PWR cores contain boron carbide (B 4 C) as neutron absorber. During a severe accident, the B 4 C can potentially react with steam under release of heat and hydrogen. Although models for B 4 C oxidation already exist in MELCOR and SCDAP/RELAP5, a development of a new model for another computer code seems to be difficult due to a missing comprehensive description of the current modelling methodology and scarce experimental data. The aim of this paper is to highlight the key points of the B 4 C oxidation using the existing available experimental data and to perform a simple heat balance analysis of the B 4 C/steam and B 4 C/air chemical reactions. The analysis of literature data shows that the B 4 C oxidation phenomenon is qualitatively well described below 1000 deg. C. However, no reliable data exist for the reaction kinetics especially above this temperature. It was found that the experimental results strongly depend on the experimental arrangement. The reaction heats, calculated in this study, indicate that the B 4 C oxidation is an exothermic reaction, releasing more heat in air than in steam. The formation of boric acids from the boron oxide increases the heat release from B 4 C by ∼ 10%, in the worst case. Although the total heat, released in a PWR core from the B 4 C oxidation, is probably much smaller than the heat released from the Zr/steam reaction, it is not excluded that the B 4 C oxidation can locally contribute to the damage of the control elements due to local overheating. Modelling of these phenomena is, however, very difficult due to the complex geometry of the liquefied control elements and due to absence of suitable data on the reaction kinetics. (author). 25 refs, 2 figs, 3 tabs

  20. Prediction of First Cardiovascular Disease Event in Type 1 Diabetes Mellitus

    DEFF Research Database (Denmark)

    Vistisen, Dorte; Andersen, Gregers Stig; Hansen, Christian Stevns

    2016-01-01

    AND RESULTS: From 4306 clinically diagnosed adult patients with type 1 diabetes mellitus, we developed a prediction model for estimating the risk of first fatal or nonfatal CVD event (ischemic heart disease, ischemic stroke, heart failure, and peripheral artery disease). Detailed clinical data including......BACKGROUND: Patients with type 1 diabetes mellitus are at increased risk of developing cardiovascular disease (CVD), but they are currently undertreated. There are no risk scores used on a regular basis in clinical practice for assessing the risk of CVD in type 1 diabetes mellitus. METHODS...... analysis). Second, based on results from the first step, Poisson regression analysis was used to derive the final model. The final CVD prediction model was externally validated in a different population of 2119 patients with type 1 diabetes mellitus. During a median follow-up of 6.8 years (interquartile...

  1. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.

    Science.gov (United States)

    Zhang, Jiangwei; Yuan, Yuheng; Ma, Mingsheng; Liu, Yan; Zhang, Weimin; Yao, Fengxia; Qiu, Zhengqing

    2017-09-05

    Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research. In conclusion, glycogen storage disease type IXa is a mild disorder with a favorable prognosis, and there was no relationship between genotype and phenotype of this disease. Copyright © 2017. Published by Elsevier B.V.

  2. Periodontal disease and type 1 diabetes mellitus: associations with glycemic control and complications: an Indian perspective.

    Science.gov (United States)

    Ajita, Meenawat; Karan, Punn; Vivek, Govila; S, Meenawat Anand; Anuj, Maheshwari

    2013-01-01

    To evaluate the frequency of periodontal disease in a group of patients with type 1 diabetes mellitus and its relationship with diabetic metabolic control, duration and complications. A comparison was made of periodontal parameters (plaque index, bleeding index, pocket depth and attachment loss) in a group of diabetic patients versus a group of non-diabetics (n=20). Statistical analysis was performed to evaluate the relationship between periodontal parameters and degree of metabolic control, the duration of the disease and the appearance of complications. Diabetics had greater bleeding index (pdiabetes for shorter duration of time (4-7 years) showed bleeding index-disease severity correlation to be 1.760 ± 0.434. Patients with type 1 diabetes have increased periodontal disease susceptibility. Periodontal inflammation is greatly increased in subjects with longer disease course, poor metabolic control and diabetic complications. Copyright © 2013 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  3. Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

    Science.gov (United States)

    Wang, David Q; Carreras, Caroline T; Fiske, Laurie M; Austin, Stephanie; Boree, Danielle; Kishnani, Priya S; Weinstein, David A

    2012-09-01

    The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I. Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (P = 0.036). Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.

  4. Multiple calcium oxalate stone formation in a patient with glycogen storage disease type I (von Gierke's disease) and renal tubular acidosis type I: a case report

    OpenAIRE

    兼松, 明弘; 清川, 岳彦; 筧, 善行; 竹内, 秀雄

    1993-01-01

    A case of multiple urinary stones in a patient with glycogen storage disease type 1 (GSD-1) is reported. In spite of the presence of hyperuricemia, these stones did not consist of uric acid, but mainly of calcium oxalate. Laboratory studies revealed distal renal tubular acidosis and hypocitraturia, but no significant abnormality in calcium metabolism. We discussed the mechanism of calcium stone formation in our case, and its prophylactic treatment by oral administration of citrate compound.

  5. [McArdle disease or glycogen storage disease type v: Should it affect anaesthetic management?].

    Science.gov (United States)

    Ayerza-Casas, V; Ferreira-Laso, L; Alloza-Fortun, M C; Fraile-Jimenez, A E

    2015-02-01

    McArdle disease is a metabolic myopathy that can may lead to severe perioperative problems. A case is reported of a woman with a history of McArdle disease, who was scheduled for a mastectomy. An understanding of the physiology and pathology, and the application of appropriate preventive measures can avoid complications. A overview of the complications and the management are described. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

    Science.gov (United States)

    Regenboog, Martine; Bohte, Anneloes E; Akkerman, Erik M; Stoker, Jaap; Hollak, Carla E M

    2017-11-01

    Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz). Median R2* values were significantly elevated in GD1 patients as compared to healthy controls in liver [41 Hz (range 29-165) vs. 38 Hz (range 28-53), P iron levels in liver and bone marrow, which may carry a risk for liver fibrosis and cancer. © 2017 John Wiley & Sons Ltd.

  7. Fifteen years of follow-up of a liver transplant recipient with glycogen storage disease type Ia (Von Gierke disease).

    Science.gov (United States)

    Maya Aparicio, A C; Bernal Bellido, C; Tinoco González, J; Garcia Ruíz, S; Aguilar Romero, L; Marín Gómez, L M; Suárez Artacho, G; Alamo Martínez, J M; Serrano Díez-Canedo, J; Padillo Ruíz, F J; Gomez Bravo, M A

    2013-01-01

    Von Gierke's disease or glycogen storage disease type Ia (GSD-Ia) is an infrequent metabolic disease caused by an atypical accumulation of glycogen. The principal cause of this pathology is deficiency of the glucose-6-phosphatase enzyme. Herein we have reported a case of a young man with a history of Von Gierke's disease (GSD-Ia) since childhood who developed hepatocellular adenomatosis brought to light by ultrasounds and TACs. The patient began to develop early chronic renal failure, necessitating simultaneous liver and kidney transplantation. Years later continuous reviews at the nephrology and hepatobiliopancreatic surgery services show he has a good quality of life and a normal hepatorenal profile. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Microstructures and mechanical properties in B{sub 4}C-CeO{sub 2} ceramics

    Energy Technology Data Exchange (ETDEWEB)

    Sun Shuchen, E-mail: sunsc@smm.neu.edu.cn [School of Materials and Metallurgy, Northeastern University, Shenyang 110004 (China); Sakamoto, Tatsuaki; Nakai, Kiyomichi [Department of Materials Science and Biotechnology, Ehime University, 3Bunkyo-cho, Matsuyama 790-8577 (Japan); Kurishita, Hiroaki [International Research Center for Nuclear Materials Science, Institute for Materials Research, Tohoku University, Oarai, Ibaraki 311-1313 (Japan); Kobayashi, Sengo [Department of Materials Science and Biotechnology, Ehime University, 3Bunkyo-cho, Matsuyama 790-8577 (Japan); Xu Jingyu; Cao Hui; Gao Bo; Bianxue; Wu Wenyuan; Tu Ganfeng [School of Materials and Metallurgy, Northeastern University, Shenyang 110004 (China); Matsuda, Seiji [Department of Anatomy and Embryology, Ehime University, Shizugawa, Toon 791-0295 (Japan)

    2011-10-01

    B{sub 4}C-CeO{sub 2} composite ceramics with various concentrations of CeO{sub 2} were fabricated by hot press. The effects of CeO{sub 2} on the microstructures and mechanical properties of the B{sub 4}C-CeO{sub 2} ceramics have been investigated. During hot press, CeB{sub 6} was formed by the reaction between CeO{sub 2} and B{sub 4}C. The B{sub 4}C-CeO{sub 2} ceramics had higher levels of density, fracture toughness, flexural strength and Vickers hardness than those in monolithic B{sub 4}C. The microstructures of the B{sub 4}C-CeO{sub 2} ceramics were observed and analyzed by transmission electron microscopy. In-situ synthesized CeB{sub 6} indicated whisker-like shape and grew along the interface with B{sub 4}C, and different boron carbides with different content of C existed at/around the interface of CeB{sub 6} with B{sub 4}C in the composite ceramics. It made mechanical properties greatly improved.

  9. INVESTIGATION OF 3-INCH/70 CARTRIDGES FROM AMMUNITION LOT PV-4-C-57

    Science.gov (United States)

    cartridge components from the same ammunition lot , PV-4-C-57, failed to reproduce a similar preignition. It was concluded that: the cartridges from...ammunition lot PV-4-C-57 appear to be serviceable; the premature ignition, upon ramming, of a 3-in/70 cartridge probably would not be caused by solid

  10. KDM4C and ATF4 Cooperate in Transcriptional Control of Amino Acid Metabolism

    Directory of Open Access Journals (Sweden)

    Erhu Zhao

    2016-01-01

    Full Text Available The histone lysine demethylase KDM4C is often overexpressed in cancers primarily through gene amplification. The molecular mechanisms of KDM4C action in tumorigenesis are not well defined. Here, we report that KDM4C transcriptionally activates amino acid biosynthesis and transport, leading to a significant increase in intracellular amino acid levels. Examination of the serine-glycine synthesis pathway reveals that KDM4C epigenetically activates the pathway genes under steady-state and serine deprivation conditions by removing the repressive histone modification H3 lysine 9 (H3K9 trimethylation. This action of KDM4C requires ATF4, a transcriptional master regulator of amino acid metabolism and stress responses. KDM4C activates ATF4 transcription and interacts with ATF4 to target serine pathway genes for transcriptional activation. We further present evidence for KDM4C in transcriptional coordination of amino acid metabolism and cell proliferation. These findings suggest a molecular mechanism linking KDM4C-mediated H3K9 demethylation and ATF4-mediated transactivation in reprogramming amino acid metabolism for cancer cell proliferation.

  11. The Influence of Type 1 and Type 2 Diabetes on Periodontal Disease Progression

    Science.gov (United States)

    Demmer, Ryan T.; Holtfreter, Birte; Desvarieux, Moïse; Jacobs, David R.; Kerner, Wolfgang; Nauck, Matthias; Völzke, Henry; Kocher, Thomas

    2012-01-01

    OBJECTIVE To explore associations between diabetes etiology (type 1 diabetes mellitus [T1DM] vs. T2DM) and glycemic control in the prediction of 5-year periodontal status change. RESEARCH DESIGN AND METHODS The Study of Health in Pomerania (SHIP) is a population-based stratified sample of German men and women. Healthy participants and those determined to have T2DM arose from the SHIP cohort, and T1DM participants were recruited from diabetes clinics in the catchment area that gave rise to SHIP. Dentate participants (n = 2,626; 53% women; 20–81 years of age) were included. Diabetes was determined via physician diagnosis and/or HbA1c ≥6.5% (uncontrolled diabetes >7.0%). Examiners blinded to diabetes status performed random half-mouth periodontal examinations, assessing probing depth (PD) and attachment loss (AL) (four sites/tooth) at baseline and follow-up. Participants were categorized into six groups as follows: 1) diabetes free (n = 2,280), 2) incident T2DM (n = 79), 3) controlled T2DM (n = 80), 4) uncontrolled T2DM (n = 72), 5) controlled T1DM (n = 43), and 6) uncontrolled T1DM (n = 72). In multivariable regressions, mean PD change (ΔMPD), mean AL change (ΔMAL), or incident tooth-loss values were regressed across the aforementioned diabetes categories. RESULTS Mean (SD) ΔMPD and ΔMAL values among all participants were −0.08 ± 0.5 mm and 0.08 ± 1.03 mm, respectively, and 34% lost one or more teeth. Relative to diabetes-free participants, those with uncontrolled T2DM experienced greater ΔMPD ± SE (P Diabetes control, but not etiology, was associated with future tooth loss and accelerated AL progression. PMID:22855731

  12. Clinical Guidance on Screening Chronic Kidney Disease in Type 2 Diabetic Patients for Family Physicians

    Directory of Open Access Journals (Sweden)

    Seyed Esmaeil Managheb

    2015-10-01

    Full Text Available Incidence of diabetes is increasing in developing countries as well as Iran. Half of the patients are not aware of their disease so screening of diabetes is necessary. Lifestyle changes in society, high-saturated fat diet and decreased physical activity are the factors that influence the growing rate of diabetes in Iran.1 The need for addressing type 2 diabetes has been clarified for family physicians.2 Diabetes is a common disease that is associated with significant morbidity and mortality. It has an asymptomatic stage that may be present for up to several years before diagnosis.3 Diabetes is the leading cause of kidney disease.4 In a study among patients over 45 years with type 2 diabetes, these results were reported: 22% suffered from retinopathy, 7% had impaired vision, 6% had kidney diseases, 9% had clinical symptoms, and 19.1% were at risk for foot ulcers.5 Early treatment of type 2 diabetes can reduce or delay complications.6 Optimal glycemia and BP are important in the prevention of diabetic chronic kidney disease (CKD.4 Therapeutic goals in patients with complications, such as CKD, include maintaining renal function and stopping the trend of renal deterioration.5 Progression of diabetic nephropathy can be slowed through the use of some medications.4 How to screen and manage chronic kidney disease in patients with type 2 diabetes is shown in Figure 1.

  13. Caries, periodontal disease and tooth loss in patients with diabetes mellitus types 1 and 2.

    Science.gov (United States)

    Patiño Marín, Nuria; Loyola Rodríguez, Juan P; Medina Solis, Carlo E; Pontigo Loyola, América P; Reyes Macías, Juan F; Ortega Rosado, Jenny C; Aradillas García, Celia

    2008-01-01

    The aim of this work was to determine the frequency of caries, periodontal disease and tooth loss in patients affected by diabetes mellitus types 1 and 2. It was a cross-sectional study involving 175 subjects distributed in the following groups: (1) 35 patients with diabetes type 1 (glycosylated hemoglobin values from 6.5%-7%), (2) 35 patients with diabetes type 1 (values of glycosylated hemoglobin higher than 7%), (3) 35 subjects without diabetes mellitus type 1, (4) 35 patients with diabetes type 2 and (5) 35 subjects without diabetes mellitus type 2. The following clinical parameters were evaluated for all the subjects who participated in the study: frequency of caries, filled teeth, missing teeth, prosthetic restoration, bacterial dental plaque, calculus index, probing depth and attachment level. On comparing the groups of patients with diabetes type 1 to the control group, there were no statistically significant differences among any of the study variables. On comparing the group of patients with diabetes type 2 to the control group, there were statistically significant differences in the variables missing teeth (p=0.0134), calculus (p=0.0001), probing depth (p=0.0009) and attachment level (p=0.0093). The variable periodontal disease showed statistically significant dIfferences in the group of patients with diabetes type 2. Prevention, supervision and review of the oral health of patients with diabetes (types 1 and 2) are needed in order to prevent oral alterations.

  14. Bone mineral density in glycogen storage disease type Ia and Ib.

    Science.gov (United States)

    Minarich, Laurie A; Kirpich, Alexander; Fiske, Laurie M; Weinstein, David A

    2012-04-05

    Purpose:The aim of this study was to characterize the pathogenesis of low bone mineral density in glycogen storage disease type Ia and Ib.Methods:A retrospective chart review performed at the University of Florida Glycogen Storage Disease Program included patients with glycogen storage disease type Ia and Ib for whom dual-energy X-ray absorptiometry analysis was performed. A Z-score less than -2 SD was considered low. Analysis for association of bone mineral density with age, gender, presence of complications, mean triglyceride and 25-hydroxyvitamin D concentrations, erythrocyte sedimentation rate, duration of granulocyte colony-stimulating factor therapy, and history of corticosteroid use was performed.Results:In glycogen storage disease Ia, 23/42 patients (55%) had low bone mineral density. Low bone mineral density was associated with other disease complications (P = 0.02) and lower mean serum 25-hydroxyvitamin D concentration (P = 0.03). There was a nonsignificant trend toward lower mean triglyceride concentration in the normal bone mineral density group (P = 0.1).In patients with glycogen storage disease type Ib, 8/12 (66.7%) had low bone mineral density. We did not detect an association with duration of granulocyte colony-stimulating factor therapy (P = 0.68), mean triglyceride level (P = 0.267), erythrocyte sedimentation rate (P = 0.3), or 25-hydroxyvitamin D (P = 0.63) concentration, and there was no evidence that corticosteroid therapy was associated with lower bone mineral density (P = 1).Conclusion:In glycogen storage disease type Ia, bone mineral density is associated with other complications and 25-hydroxyvitamin D status. In glycogen storage disease type Ib, bone mineral density was not associated with any covariates analyzed, suggesting multifactorial etiology or reflecting a small sample.Genet Med advance online publication 5 April 2012.

  15. Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Del Gaizo, Andrew [Emory University School of Medicine, Radiology Resident, Atlanta, GA (United States); Banerjee, Sima [Emory University School of Medicine, Musculoskeletal Radiology Department, Atlanta, GA (United States); Terk, Michael [Emory University School of Medicine, Radiology, Division of Musculoskeletal Imaging, Atlanta, GA (United States)

    2009-12-15

    Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

  16. Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

    International Nuclear Information System (INIS)

    Del Gaizo, Andrew; Banerjee, Sima; Terk, Michael

    2009-01-01

    Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

  17. Photocatalytic CO2 reduction over B4C/C3N4 with internal electric field under visible light irradiation.

    Science.gov (United States)

    Zhang, Xiaojie; Wang, Lei; Du, Quanchao; Wang, Zhiyong; Ma, Shuguo; Yu, Miao

    2016-02-15

    Boron carbide/graphitic carbon nitride (B4C/g-C3N4) p-n hetero-junction photocatalyst with an internal electric field was synthesized by a facile solvent evaporation method and characterized by field emission scanning electron microscope (FESEM), UV-Vis diffuse reflectance spectra (UV-Vis DRS), photoluminescence spectra (PL), etc. Photocatalytic activity of the composite B4C/g-C3N4 loaded with Pt co-catalyst was evaluated using CO2 conversion to CH4 with H2 as the hydrogen source and reductant under visible light irradiation. The coupling of p-type B4C with n-type g-C3N4 significantly improved the performance of photocatalytic CO2 reduction; with the optimum B4C mass fraction of 1/6, the composite photocatalyst showed approximately 6 and 8 times higher CH4 generation rate than g-C3N4 and B4C, respectively. The enhancement was attributed to efficient photo-excited electron/hole separation due to the formation of internal electric field at the p-B4C/n-C3N4 interface. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Silent coeliac disease is over-represented in children with type 1 diabetes and their siblings.

    Science.gov (United States)

    Hansson, Tony; Dahlbom, Ingrid; Tuvemo, Torsten; Frisk, Gun

    2015-02-01

    This study measured autoantibodies against tissue transglutaminase (anti-tTG) to detect untreated coeliac disease in children with type 1 diabetes and their siblings. Anti-tTG was measured in prospectively collected sera from 169 children at the onset of diabetes, 88 of their siblings and 96 matched control children. Coeliac disease was confirmed with a small intestinal biopsy. Coeliac disease was diagnosed in five children before diabetes onset. A further 12 children were diagnosed after diabetes onset, without any gastrointestinal symptoms, and 11 of these had anti-tTG at the onset of diabetes, with the remaining child showing seroconversion within 6 months. Hence, all the children with both diseases had anti-tTG at or before diabetes diagnosis, and the prevalence of coeliac disease was 10.1%. Moreover, 6.8% of the siblings and 3.1% of the control children had elevated levels of anti-tTG. None of the siblings reported any coeliac-related symptoms, despite being positive for anti-tTG, and coeliac disease has so far been biopsy confirmed in 4.5%. Silent coeliac disease is over-represented in children with type 1 diabetes and their siblings. All diabetes children and their siblings should be tested and followed for the presence of anti-tTG and coeliac disease. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  19. [Dental implant restoration in 248 patients with periodontal disease and type 2 diabetes].

    Science.gov (United States)

    Wu, Da-yi; Li, Gang; Zhang, Qing; Teng, Li-zhao; Lu, Huan-you

    2011-11-01

    To discuss the risk and strategy of dental implantation in patients with periodontal disease and type 2 diabetes. Retrospective analysis was performed of dental implantation results in 248 patients with periodontal disease and type 2 diabetes from 2000 to 2008. The survival rate was evaluated and the data statistically analyzed. The Nobel implant system and CDIC implant system were used. The operation applied flapless and bone expanding techniques. A total of 1190 implants were inserted (333 Nobel Replace implants and 857 CDIC implants). 0.5% (6 implants) lost during the first 6 months healing stage. The 1-year, 5-year and 8-year survival rate were 98.4% (1165/1184), 95.3% (487/511) and 89.2% (91/102) respectively. The patients with periodontal disease and type 2 diabetes are suitable for implant treatment with satisfactory results under the conditions that the indication and risk factors are evaluated and controlled strictly.

  20. Forgiveness and Personality Type among Men and Women Suffering from Cardiovascular Diseases

    Directory of Open Access Journals (Sweden)

    Elham Foroozandeh

    2014-07-01

    Full Text Available Background: Role of personality and some components of behaviors, traits and emotions as effective factors on coronary heart diseases (CHD were presented nearly 50 years ago with the concept of “type A” behavior, a compound of hostility, impatience, competitiveness and dominance. Later studies showed crucial role of other traits and behaviors like anger, introversion, depression and forgiveness. Objective: The aim of this study was to compare personality type and forgiveness in the patients suffering from cardiovascular diseases based on gender. Materials and method: The cross sectional study was designed and sample was collected from men and women referred to cardiologists (within the age range of 23-75 years old from the patients of Shahid Rajaee Heart Hospital of Tehran, Iran from December 2010 to March 2011. Total 87 subjects were selected using random method. The study subjects were given two questionnaires: personality type A (with two factors: TA1, pathologic behaviors of type A personality and TA2, non pathologic behaviors of type A personality and Interpersonal Forgiveness Inventory (IFI, with three subscales namely reestablishment of relationship, control of revenge and realistic perception. Data were analyzed using SPSS software. Results: Mean(±SD age of men was 50.5±11.6 years (n=33 and 55.7±14.4 years in women (n=54. Mean duration of suffering from cardiovascular diseases in men was 7.8 years and in women was 9.10 years. The study found high mean scores of type A pathologic but not non pathologic type A among women compared to men (p<0.038 and no statistically significant differences in forgiveness subscales. Conclusion: The study revealed significant difference between women and men suffering from cardiovascular disease in pathologic type A (TA1 and negative relationship between pathologic type A and forgiveness.

  1. Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients

    DEFF Research Database (Denmark)

    Brorsson, Caroline A; Nielsen, Lotte B; Andersen, Marie-Louise

    2016-01-01

    Genome-wide association studies (GWAS) have identified over 40 type 1 diabetes risk loci. The clinical impact of these loci on β-cell function during disease progression is unknown. We aimed at testing whether a genetic risk score could predict glycemic control and residual β-cell function in type...... 1 diabetes (T1D). As gene expression may represent an intermediate phenotype between genetic variation and disease, we hypothesized that genes within T1D loci which are expressed in islets and transcriptionally regulated by proinflammatory cytokines would be the best predictors of disease...... of the 11 candidate genes have overlapping biological functions and interact in a common network. Our results may help predict disease progression in newly diagnosed children with T1D which can be exploited for optimizing treatment....

  2. Perception analysis of diabetics Type 2 about the disease and treatment

    Directory of Open Access Journals (Sweden)

    Marcelo Caetano de Azevêdo Tavares

    2016-04-01

    Full Text Available Introduction: Diabetes mellitus is a group of metabolic diseases characterized by hyperglycemia resulting from defects in the secretion and /or insulin action. Diabetics need to develop certain skills to deal with the symptoms of the disease and limitations. Therefore, interpretations individuals give to their health part of the series of views, values and experience. Objective: To examine the perception of type 2 diabetes about the disease and treatment. Methods: A descriptive study of 30 individuals with Type 2 Diabetes participants of Program Supervised Exercise for Diabetics, using a questionnaire adapted6. Data were tabulated using the measure of relative and absolute frequency. Results: Only 23.3% of diabetics know what diabetes is, 53% not identify hyperglycemia and hypoglycemia, 67% cannot explain the chronic complications. Conclusion: It concluded that the findings of this study showed an unsatisfactory level of perception and there is a significant gap between the disease and the understanding of diabetics with it.

  3. Toward molecular pathogenesis of an autoimmune disease: Refined genetic mapping of autoimmune polyglandular disease type I (APECED)

    Energy Technology Data Exchange (ETDEWEB)

    Aaltonen, J.; Bjoerses, P.; Peltonen, L. [National Public Health Institute, Helsinki (Finland)] [and others

    1994-09-01

    Autoimmune reactions encoupled to many human diseases are still only partially understood. Unravelling the molecular pathogenesis of inherited diseases with a strong autoimmune component in their clinical expression could help to dissect individual components in the molecular background of abnormal immune response. One such genetic disorder is autosomal recessive autoimmune polyglandular disease type I (PGD I), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, MIM 240300). The disease is especially enriched in the genetically isolated population of Finland and we have assigned the APECED locus to human chromosome 21q22.3 in 14 Finnish families by linkage analyses. The best positional lod score of 6.49 was observed with marker D21S49. Based on the history of the Finns, the gene pool of this population clearly demonstrates the consequences of a founder effect and consequent isolation. In the Finnish population, we can take advantage of linkage disequilibrium and allelic association studies to more precisely define the critical DNA region for our disease gene of interest than would be possible by linkage analyses alone. We are now able to define the chromosomal region of interest between two flanking markers locating 1 cM apart. Linkage disequilibrium is observed with three of the markers used in the analyses and this suggests a distance of less than 500 kb to the disease locus, well approachable with molecular cloning techniques. Overlapping YAC and cosmid clones spanning our region of interest will facilitate the cloning of APECED gene in the near future.

  4. Dietary patterns and the risk of obesity, type 2 diabetes mellitus, cardiovascular diseases, asthma, and neurodegenerative diseases.

    Science.gov (United States)

    Medina-Remón, Alexander; Kirwan, Richard; Lamuela-Raventós, Rosa M; Estruch, Ramón

    2018-01-22

    Diet and lifestyle play a significant role in the development chronic diseases; however the full complexity of this relationship is not yet understood. Dietary pattern investigation, which reflects the complexity of dietary intake, has emerged as an alternative and complementary approach for examining the association between diet and chronic diseases. Literature on this association has largely focused on individual nutrients, with conflicting outcomes, but individuals consume a combination of foods from many groups that form dietary patterns. Our objective was to systematically review the current findings on the effects of dietary patterns on chronic diseases. In this review, we describe and discuss the relationships between dietary patterns, such as the Mediterranean, the Dietary Approach to Stop Hypertension, Prudent, Seventh-day Adventists, and Western, with risk of obesity, type-2 diabetes mellitus, cardiovascular diseases, asthma, and neurodegenearive diseases. Evidence is increasing from both observational and clinical studies that plant-based dietary patterns, which are rich in fruits, vegetables, and whole grains, are valuable in preventing various chronic diseases, whereas a diet high in red and processed meat, refined grains and added sugar seems to increase said risk. Dietary pattern analysis might be especially valuable to the development and evaluation of food-based dietary guidelines.

  5. Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease with a Novel Mutation: A Malaysian Experience

    Directory of Open Access Journals (Sweden)

    Hiew Fu Liong

    2014-01-01

    Full Text Available Pompe’s disease (acid maltase deficiency, glycogen storage disease type II is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148* in exon 2 and c.2238G>C (p.Trp746Cys in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe’s disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.

  6. Oscillations control of a transmission belt by Excitation Clipping using Clutch Clamping Control (E4C)

    Science.gov (United States)

    Temporelli, Robin; Micheau, Philippe

    2017-04-01

    A transmission belt deals with non-linear phenomena such as parametric excitations that can bring the belt in an instability region resulting in large transverse oscillations. These oscillations can cause belt life deflection, noise and unexpected vibration on its environment. The present study proposes a new strategy to control oscillations of a transmission belt subject to periodic tension fluctuations. Indeed, for a transmission belt, periodic torque fluctuations cause periodic belt tension fluctuations which can be a source of excitation for the belt and resulting in belt oscillations under certain conditions. The presence of a clutch between the belt end-point and the source of torque fluctuations offers a means to clip torque fluctuations and thus to clip belt excitation. In keeping with this notion, belt oscillations can be controlled by an Excitation Clipping using Clutch Clamping Control (E4C) strategy. Through an example of a transmission belt subject to periodic tension fluctuations, the E4C strategy is presented and a new analytical model of belt behavior with its E4C strategy is constructed. Free belt oscillations (E4C is not activated) and controlled belt oscillations (E4C is activated) are observed through an experimental setup and predicted owing to the new analytical model. Finally, the E4C strategy leads to frequency unlocking that successfully removes belt oscillations. This new analytical model furthermore provides an accurate prediction of belt behavior with its E4C strategy.

  7. Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

    OpenAIRE

    Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H.M.; Cassady, John P.; Cohen, Malkiel A.; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I.; Jaenisch, Rudolf

    2013-01-01

    Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal prot...

  8. Global stability and persistence in LG–Holling type II diseased predator ecosystems

    OpenAIRE

    Sarwardi, Sahabuddin; Haque, Mainul; Venturino, Ezio

    2010-01-01

    A Leslie–Gower–Holling type II model is modified to introduce a contagious disease in the predator population, assuming that disease cannot propagate to the prey. All the system’s equilibria are determined and the behaviour of the system near them is investigated. The main mathematical issues are global stability and bifurcations for some of the equilibria, together with sufficient conditions for persistence of the ecosystem. Counterintuitive results on the role played by intraspecific compet...

  9. Endothelin-Type A receptors mediate pain in a mouse model of sickle cell disease.

    Science.gov (United States)

    Lutz, Brianna Marie; Wu, Shaogen; Gu, Xiyao; Atianjoh, Fidelis E; Li, Zhen; Fox, Brandon M; Pollock, David M; Tao, Yuan-Xiang

    2018-03-15

    Sickle cell disease is associated with acute painful episodes and chronic intractable pain. Endothelin-1, a known pain inducer, is elevated in the blood plasma of both sickle cell patients and mouse models of sickle cell disease. We show here that the levels of endothelin-1 and its endothelin type A receptor are increased in the dorsal root ganglia of a mouse model of sickle cell disease. Pharmacologic inhibition or neuron-specific knockdown of endothelin type A receptors in primary sensory neurons of dorsal root ganglion alleviated basal and post-hypoxia evoked pain hypersensitivities in sickle cell mice. Mechanistically, endothelin type A receptors contribute to sickle cell disease-associated pain likely through the activation of NF-κB-induced Nav1.8 channel upregulation in primary sensory neurons of sickle cell mice. Our findings suggest that endothelin type A receptor is a potential target for the management of sickle cell disease-associated pain, although this expectation needs to be further verified in clinic settings. Copyright © 2018, Ferrata Storti Foundation.

  10. Associations of HLA-A, -B and -DRB1 types with oral diseases in Swiss adults.

    Science.gov (United States)

    Mauramo, Matti; Ramseier, Adrian Markus; Buser, Andreas; Tiercy, Jean-Marie; Weiger, Roland; Waltimo, Tuomas

    2014-01-01

    Human leukocyte antigens (HLA) are crucial components of host defense against microbial challenge but the associations of HLA types with oral infectious diseases have not been studied in detail. This prospective cross-sectional study examined associations of HLA-A, -B and -DRB1 types with common oral diseases in a healthy Swiss adult population. 257 subjects (107 m, 150 f, mean age: 43.5 yr; range: 21-58 yr) with known HLA-A, -B and -DRB1 profiles and comprehensive medical records were included. A thorough anamnesis was followed by oral examinations including saliva flow measurements, the DMFT score for cariological status, complete periodontal status with plaque and bleeding indexes as well as assessment of mucosal alterations and temporomandibular dysfunction (TMD). Student's t-test and Pearson chi-square test were utilized to compare the oral diseases between HLA positive and negative subjects. Bonferroni correction for multiple comparisons was used and PBonfHLA types -B15 (PBonf = 0.002), -B51 (PBonf = 0.02) and -DRB1*12 (PBonf = 0.02) were associated with less periodontal disease manifestations. HLA-A32 had a positive association with TMD dysfunction (PBonf = 0.012). No other statistically significant associations were observed. In conclusion, HLA types may contribute to the development of oral diseases in generally healthy Caucasian adults.

  11. Celiac disease associated antibodies in persons with latent autoimmune diabetes of adult and type 2 diabetes.

    Science.gov (United States)

    Sánchez, J C; Cruz, Julio Cesar Sánchez; Cabrera-Rode, E; Rode, Eduardo Cabrera; Sorell, L; Gómez, Luis Sorell; Galvan, J A; Cabrera, José A Galvan; Hernandez, A; Ortega, Ania Hernandez; Molina, G; Mato, Gisela Molina; Perich, P A; Amador, Pedro A Perich; Licea, M E; Puig, Manuel E Licea; Domínguez, E; Alonso, Emma Domínguez; Díaz-Horta, O; Díaz-Horta, Oscar

    2007-03-01

    Celiac Disease (CD) is present in 1-16.4% of patients with type 1 diabetes mellitus. The most important serological markers of CD are anti-endomysial (EMA), anti-tissue transglutaminase (tTGA) and antigliadin antibodies (AGA). The objective of this work is to determine the frequency of tTGA and/or AGA in latent autoimmune diabetes of adult (LADA) and subjects with type 2 diabetes (T2DM), as well as to evaluate their relation with several clinical and biochemical characteristics. Forty three subjects with LADA and 99 with T2DM were studied. The presence of AGA, tTGA was determined in the sera of these patients. The variables: sex, age, duration of diabetes, treatment, body mass index (BMI) and fasting blood glucose concentration were also recorded. No differences were found in the frequency of celiac disease associated antibodies between LADA and T2DM subjects. The presence of celiac disease related antibodies was more frequent in patients with a normal or low BMI. Celiac disease does not seem to be related with pancreatic autoimmunity in type 2 diabetes. Celiac disease causes a decrease of body mass index in type 2 diabetes while pancreatic islet autoimmunity in this entity masks this effect.

  12. Degradation and oxidation of B 4C control rod segments at high temperatures

    Science.gov (United States)

    Steinbrück, M.

    2010-05-01

    Extensive series of test were performed of the degradation of boron carbide absorber rods and the oxidation of the resultant absorber melts. Various types of control rod segments made of commercial materials used in French 1300 MW PWRs were investigated in the temperature range between 800 °C and 1700 °C in a steam atmosphere. The gaseous reaction products were analyzed quantitatively by mass spectroscopy for evaluation of the oxidation rates. Extensive post-test examinations were performed by light microscopy, scanning electron microscopy as well as EDX and Auger spectroscopy. Rapid melt formation due to eutectic interactions of stainless steel (cladding tube) and B 4C, on the one hand, and steel and Zircaloy-4 (guide tube), on the other hand, was observed at temperatures above 1250 °C. Complex multi-component, multi-phase melts were produced. ZrO 2 oxide scale on the outside kept the melt within the guide tube, thus preventing its early relocation and oxidation. Rapid oxidation of the absorber melts and remaining boron carbide pellets took place after failure of the protective oxide shell above 1450 °C. Only very little methane was produced in these tests which is of interest in fission product gas chemistry because of the production of organic iodine.

  13. Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Onbas, Omer; Aliagaoglu, Cihangir; Calikoglu, Cagatay; Kantarci, Mecit; Atasoy, Mustafa; Alper, Fatih [Ataturk University, Erzurum (Turkmenistan)

    2006-03-15

    Neurofibromatosis type 1 disease if characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.

  14. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.

    Science.gov (United States)

    Dambska, M; Labrador, E B; Kuo, C L; Weinstein, D A

    2017-08-01

    Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

    DEFF Research Database (Denmark)

    Gusev, Alexander; Lee, S Hong; Trynka, Gosia

    2014-01-01

    partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of hg(2) from imputed SNPs (5.1× enrichment......; p = 3.7 × 10(-17)) and 38% (SE = 4%) of hg(2) from genotyped SNPs (1.6× enrichment, p = 1.0 × 10(-4)). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained

  16. Adult Niemann-Pick disease type B with myositis ossificans: a case report

    Directory of Open Access Journals (Sweden)

    Russka Shumnalieva

    2016-07-01

    Full Text Available Niemann-Pick Disease (NPD is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.

  17. Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography

    International Nuclear Information System (INIS)

    Onbas, Omer; Aliagaoglu, Cihangir; Calikoglu, Cagatay; Kantarci, Mecit; Atasoy, Mustafa; Alper, Fatih

    2006-01-01

    Neurofibromatosis type 1 disease if characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography

  18. Long-term Hyperglycemia Naturally Induces Dental Caries but Not Periodontal Disease in Type 1 and Type 2 Diabetic Rodents.

    Science.gov (United States)

    Nakahara, Yutaka; Ozaki, Kiyokazu; Matsuura, Tetsuro

    2017-11-01

    Periodontal disease (PD) in patients with diabetes is described as the sixth complication of diabetes. We have previously shown that diabetes increases dental caries, and carious inflammation might have a strong effect on the adjacent periodontal tissue in diabetic rodent models. However, the possibility that hyperglycemia may induce PD in diabetic animals could not be completely eliminated. The goal of this study was to confirm the presence of PD in diabetic animal models by preventing carious inflammation with fluoride administration. F344 rats injected with alloxan (type 1 diabetic model) and db/db mice (type 2 diabetic model) were given either tap water alone or tap water containing fluoride. A cariostatic effect of fluoride was evident in the diabetic animals. Meanwhile, fluoride treatment drastically attenuated periodontal inflammation in addition to preventing dental caries. Furthermore, with fluoride treatment, periodontitis was notably nonexistent in the periodontal tissue surrounding the normal molars, whereas the caries-forming process was clearly observed in the teeth that were enveloped with persistent periodontitis, suggesting that enhanced periodontal inflammation might have been derived from the dental caries in the diabetic rodents rather than from the PD. In conclusion, long-term hyperglycemia naturally induces dental caries but not PD in type 1 and type 2 diabetic rodents. © 2017 by the American Diabetes Association.

  19. Karl Jaspers on the disease entity: Kantian ideas and Weberian ideal types.

    Science.gov (United States)

    Walker, Chris

    2014-09-01

    Jaspers' nosology is indebted to Immanuel Kant's theory of knowledge. He drew the distinction of form and content from the Transcendental Analytic of Kant's Critique of Pure Reason. The distinction is universal to all knowledge, including psychopathology. Individual experience is constituted by a form or category of the Understanding to give a determinate or knowable object classified into the generic type of a real disease entity. The application of form and content is limited by the boundaries of experience. Beyond this boundary are wholes whose conception requires Ideas of reason drawn from the Transcendental Dialectic. Wholes are regulated by Ideas of reason to give an object or schema of the Idea collected into ideal types of an ideal typical disease entity. Jaspers drew ideal types from Max Weber's social theory. He anticipated that, as knowledge advanced, ideal typical disease entities would become real disease entities. By 1920, this had been the destiny of general paralysis as knowledge of its neuropathology, serology and microbiology emerged. As he presented the final edition of General Psychopathology in 1946, Jaspers was anticipating the transition of schizophrenia from ideal typical to real disease entity. Almost 70 years later, with knowledge of its aetiology still unclear, schizophrenia remains marooned as an ideal typical disease entity - still awaiting that crucial advance! © The Author(s) 2014.

  20. Relationship of adiponectin level with lipid profile in type-2 diabetic men with coronary heart disease

    International Nuclear Information System (INIS)

    Durrani, S.; Jan, M.R.; Shah, J.; Khan, M.A.

    2015-01-01

    Cerebro-vascular disease is a commonest long term complication of type-2 diabetes mellitus. The study was done to determine concentration of serum adiponectin and lipid profile in type-2 diabetic men with coronary heart disease (CHD) in the region of Khyber Pakhtunkhwa (KPK), and to find possible relationship between them. Methods: This was a cross-sectional study comprising of randomly selected thirty six healthy adult males and thirty six type-2 diabetic males with coronary heart disease. Their fasting blood samples were analysed for serum adiponectin, fasting blood glucose, glycosylated haemoglobin and lipid profile which included total cholesterol (T-C), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C). The relationship of adiponectin with other variables in type-2 diabetic men with coronary heart disease was determined with Pearson correlations coefficient (r). Results: Type-2 diabetic males with coronary heart disease when compared to healthy males showed significantly low levels of serum adiponectin (p=<0.001) and HDL-C (p=<0.001) and significantly high level of FBG (p=<0.001), HbA1c (p=<0.001), TC (p=<0.05), TG (p=<0.05) and LDL-C (p=<0.05). Serum adiponectin level showed a significant negative correlation with FBG (r = -0.332; p= 0.04), HbA1c (r = -0.818; p=<0.01) and TG (r = -0.640; p=<0.01) in type-2 diabetic men with coronary heart disease. Adiponectin showed a significant positive association with HDL-C in controls (r = 0.948; p=<0.01) and patients of type-2 diabetes with CHD (r = 0.650; p=<0.01). Conclusion: Serum adiponectin concentration is markedly decreased in patients of type-2 diabetes with coronary heart disease. Hypoadiponectinemia is related with deranged lipid profile, i.e., high TG and low HDL-C levels in type-2 diabetic men with CHD. Moreover, adiponectin is associated positively with HDL-C and negatively with HbA1c and TG levels in the studied population. (author)

  1. Osteoprotegerin and coronary artery disease in type 2 diabetic patients with microalbuminuria

    DEFF Research Database (Denmark)

    Reinhard, Henrik; Nybo, Mads; Hansen, Peter R

    2011-01-01

    Plasma osteoprotegerin (P-OPG) is an independent predictor of cardiovascular disease in diabetic and other populations. OPG is a bone-related glycopeptide produced by vascular smooth muscle cells and increased P-OPG may reflect arterial damage. We investigated the correlation between P-OPG and co......-OPG and coronary artery disease (CAD) in asymptomatic type 2 diabetic patients with microalbuminuria.......Plasma osteoprotegerin (P-OPG) is an independent predictor of cardiovascular disease in diabetic and other populations. OPG is a bone-related glycopeptide produced by vascular smooth muscle cells and increased P-OPG may reflect arterial damage. We investigated the correlation between P...

  2. Dietary Patterns and Cardiovascular Disease Risk in People with Type 2 Diabetes.

    Science.gov (United States)

    Archundia Herrera, M Carolina; Subhan, Fatheema B; Chan, Catherine B

    2017-12-01

    The primary objective of this review is to identify dietary patterns with beneficial effects on cardiovascular health of adults with type 2 diabetes. The prevalence of diabetes is increasing globally. People with diabetes have a greater risk for cardiovascular disease. Mediterranean diet, dietary approaches to stop hypertension diet, vegetarian diet, traditional Korean diet, Japanese diet, and low-glycemic-index diet can reduce cardiovascular disease risk in people with diabetes. Dietary intake is a key modifiable factor in the management of diabetes and plays a significant role in limiting the incidence of cardiovascular diseases.

  3. A trial of darbepoetin alfa in type 2 diabetes and chronic kidney disease

    DEFF Research Database (Denmark)

    Pfeffer, Marc A; Burdmann, Emmanuel A; Chen, Chao-Yin

    2009-01-01

    BACKGROUND: Anemia is associated with an increased risk of cardiovascular and renal events among patients with type 2 diabetes and chronic kidney disease. Although darbepoetin alfa can effectively increase hemoglobin levels, its effect on clinical outcomes in these patients has not been adequately...... tested. METHODS: In this study involving 4038 patients with diabetes, chronic kidney disease, and anemia, we randomly assigned 2012 patients to darbepoetin alfa to achieve a hemoglobin level of approximately 13 g per deciliter and 2026 patients to placebo, with rescue darbepoetin alfa when the hemoglobin...... assigned to darbepoetin alfa and 496 patients assigned to placebo (Pchronic kidney disease...

  4. Kidney Disease and Youth Onset Type 2 Diabetes: Considerations for the General Practitioner

    Directory of Open Access Journals (Sweden)

    Allison B. Dart

    2012-01-01

    Full Text Available Youth onset type 2 diabetes (T2DM continues to increase worldwide, concomitant with the rising obesity epidemic. There is evidence to suggest that youth with T2DM are affected by the same comorbidities and complications as adults diagnosed with T2DM. This review highlights specifically the kidney disease associated with youth onset T2DM, which is highly prevalent and associated with a high risk of end-stage kidney disease in early adulthood. A general understanding of this complex disease by primary care providers is critical, so that at-risk individuals are identified and managed early in the course of their disease, such that progression can be modified in this high-risk group of children and adolescents. A review of the pediatric literature will include a focus on the epidemiology, risk factors, pathology, screening, and treatment of kidney disease in youth onset T2DM.

  5. CD64: An Attractive Immunotherapeutic Target for M1-type Macrophage Mediated Chronic Inflammatory Diseases

    Directory of Open Access Journals (Sweden)

    Olusiji A. Akinrinmade

    2017-09-01

    Full Text Available To date, no curative therapy is available for the treatment of most chronic inflammatory diseases such as atopic dermatitis, rheumatoid arthritis, or autoimmune disorders. Current treatments require a lifetime supply for patients to alleviate clinical symptoms and are unable to stop the course of disease. In contrast, a new series of immunotherapeutic agents targeting the Fc γ receptor I (CD64 have emerged and demonstrated significant clinical potential to actually resolving chronic inflammation driven by M1-type dysregulated macrophages. This subpopulation plays a key role in the initiation and maintenance of a series of chronic diseases. The novel recombinant M1-specific immunotherapeutics offer the prospect of highly effective treatment strategies as they have been shown to selectively eliminate the disease-causing macrophage subpopulations. In this review, we provide a detailed summary of the data generated, together with the advantages and the clinical potential of CD64-based targeted therapies for the treatment of chronic inflammatory diseases.

  6. Winter circulation weather types and hospital admissions for respiratory diseases in Galicia, Spain

    Science.gov (United States)

    Royé, D.; Taboada, J. J.; Martí, A.; Lorenzo, M. N.

    2016-04-01

    The link between various pathologies and atmospheric conditions has been a constant topic of study over recent decades in many places across the world; knowing more about it enables us to pre-empt the worsening of certain diseases, thereby optimizing medical resources. This study looked specifically at the connections in winter between respiratory diseases and types of atmospheric weather conditions (Circulation Weather Types, CWT) in Galicia, a region in the north-western corner of the Iberian Peninsula. To do this, the study used hospital admission data associated with these pathologies as well as an automatic classification of weather types. The main result obtained was that weather types giving rise to an increase in admissions due to these diseases are those associated with cold, dry weather, such as those in the east and south-east, or anticyclonic types. A second peak was associated with humid, hotter weather, generally linked to south-west weather types. In the future, this result may help to forecast the increase in respiratory pathologies in the region some days in advance.

  7. Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.

    Science.gov (United States)

    Cohn, Aviva; Ohri, Anupam

    2017-11-12

    Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient's blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor. We report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.

  8. Tc-99m-sestamibi scintigraphy in gaucher disease, type 1

    International Nuclear Information System (INIS)

    Park, Chan H.; Pai, Moon S.; Ha, Man J.; Yoon, S. N.; Kim, S.; Whang, K. H.; Kim, Hyun J.

    1999-01-01

    Gaucher disease is an autosomal recessive disorder characterized by lysosomal glycolipid storage in reticuloendothelial cells due to the deficiency of lysosomal enzyme, acid-glucosidase. Type 1 is one of the three subtypes of Gaucher disease and is manifested by a chronic and progressive involvement of the spleen, liver, bone marrow and other visceral organs. This study was done to see imaging feasibility of bone marrow involvement of Gaucher cells using sestamibi. Five patients with Gaucher disease, type I (M:F=4:1, age range: 9-25) underwent a simultaneous anterior and posterior whole body scan as well as spot views of the lower extremities as needed in 10-20 min following the IV administration of 0.2 mCi/kg of Tc-99m-sestamibi. Control group consisted of 10 patients with osteosarcoma, simple bone cyst, nonossifying fibroma, osteoid osteoma, exostosis and neuroblastoma ( M: F=9:1, age range: 2-20, mean : 12.1) and sestamibi images of the group were obtained as in Gaucher cases. For in vitro evaluation, Gaucher cells were isolated from the splenectomy specimen. The cells were incubated in media containing sestamibi for 10, 29, 30 min. After washing the cells twice with saline, cell labeling was checked by external counting. Control group depicted no appreciable sestamibi uptake in the lower extremities while 5 patients with Gaucher disease, type I revealed variable degrees of sestamibi uptake. It was difficult to assess vertebral activities due to hepatosplenomegaly. Ioslated Gaucher cells took up sestamibi supported by an increasing external counting in proportion to incubation time. There was sestamibi uptake in the lower extremities involved by Gaucher disease, type I, which was distinctly different from the control group. Also in vitro study revealed sestamibi uptake in Gaucher cells. On the basis of these results, we believe, it may be possible to evaluate enzyme replacement therapy in Gaucher disease, type I, utilizing sestamibi scintiscan

  9. Tc-99m-sestamibi scintigraphy in gaucher disease, type 1

    Energy Technology Data Exchange (ETDEWEB)

    Park, Chan H.; Pai, Moon S.; Ha, Man J.; Yoon, S. N.; Kim, S.; Whang, K. H.; Kim, Hyun J. [College of Medicine, Ajou Univ., Suwon (Korea, Republic of)

    1999-07-01

    Gaucher disease is an autosomal recessive disorder characterized by lysosomal glycolipid storage in reticuloendothelial cells due to the deficiency of lysosomal enzyme, acid-glucosidase. Type 1 is one of the three subtypes of Gaucher disease and is manifested by a chronic and progressive involvement of the spleen, liver, bone marrow and other visceral organs. This study was done to see imaging feasibility of bone marrow involvement of Gaucher cells using sestamibi. Five patients with Gaucher disease, type I (M:F=4:1, age range: 9-25) underwent a simultaneous anterior and posterior whole body scan as well as spot views of the lower extremities as needed in 10-20 min following the IV administration of 0.2 mCi/kg of Tc-99m-sestamibi. Control group consisted of 10 patients with osteosarcoma, simple bone cyst, nonossifying fibroma, osteoid osteoma, exostosis and neuroblastoma ( M: F=9:1, age range: 2-20, mean : 12.1) and sestamibi images of the group were obtained as in Gaucher cases. For in vitro evaluation, Gaucher cells were isolated from the splenectomy specimen. The cells were incubated in media containing sestamibi for 10, 29, 30 min. After washing the cells twice with saline, cell labeling was checked by external counting. Control group depicted no appreciable sestamibi uptake in the lower extremities while 5 patients with Gaucher disease, type I revealed variable degrees of sestamibi uptake. It was difficult to assess vertebral activities due to hepatosplenomegaly. Ioslated Gaucher cells took up sestamibi supported by an increasing external counting in proportion to incubation time. There was sestamibi uptake in the lower extremities involved by Gaucher disease, type I, which was distinctly different from the control group. Also in vitro study revealed sestamibi uptake in Gaucher cells. On the basis of these results, we believe, it may be possible to evaluate enzyme replacement therapy in Gaucher disease, type I, utilizing sestamibi scintiscan.

  10. Effect of microstructure on low temperature electrochemical properties of LiFePO{sub 4}/C cathode material

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Nannan; Zhi, Xiaoke; Wang, Li; Liu, Yanhui; Liang, Guangchuan, E-mail: liangguangchuan@hebut.edu.cn

    2015-10-05

    indicate that the microstructure of LiFePO{sub 4}/C is a key factor determining the low-temperature performance of LiFePO{sub 4}/C. A new type of LiFePO{sub 4}/C with a pomegranate-like spherical structure composed of smaller spherical particles is reported, which shows good process-ability and superior low-temperature performance. The composite has a uniform particle size and carbon network, which delivers a discharge capacity of 89.3 mA h g{sup −1} at −20 °C at a discharge rate of 0.5 C, with capacity retention rate of 58.7%. The 18650 batteries were prepared with pomegranate-like spherical structure LiFePO{sub 4}/C composite which delivers a discharge capacity of 1603.7, 1563.8, 1572.28, 1598.0, 1580.1, 1504.2, and 1405.4 mA h at 0.5 C, 1 C, 2 C, 5 C, 10 C, 15 C, and 20 C, under 25 °C, respectively. Moreover, the batteries also exhibit good low-temperature performance with capacity of 1127.2 mA h at −20 °C at a discharge rate of 1 C, which is the 72.1% of the same discharge rate at 25 °C. Otherwise, the 18650 batteries also exhibit excellent cycling performance and the capacity maintains 83.4% at −20 °C after 100 cycles. The superior low-temperature performance of the LiFePO{sub 4}/C composite material may be attributed to its uniform carbon network and fine primary particles.

  11. Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

    Energy Technology Data Exchange (ETDEWEB)

    Choy, F.Y.M.; Humphries, M.L. [Univ. of Victoria, British Columbia (Canada); Ferreira, P. [Univ. of Alberta, Edmonton (Canada)

    1997-01-20

    Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomal recessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). We performed PCR-thermal cycle sequence analysis of glucocerebrosidase genomic DNA and identified a novel mutation in a non-Jewish type 1 Gaucher disease patient. It is a C insertion in exon 3 at cDNA nucleotide position 122 and genomic nucleotide position 1626. This mutation causes a frameshift and, subsequently, four of the five codons immediately downstream of the insertion were changed while the sixth was converted to a stop codon, resulting in premature termination of protein translation. The 122CC insertion abolishes a Cac81 restriction endonuclease cleavage site, allowing a convenient and reliable method for detection using RFLP analysis of PCR-amplified glucocerebrosidase genomic DNA. The mutation in the other Gaucher allele was found to be an A{r_arrow}G substitution at glucocerebrosidase cDNA nucleotide position 1226 that so far has only been reported among type 1 Gaucher disease patients. Since mutation 122CC causes a frameshift and early termination of protein translation, it most likely results in a meaningless transcript and subsequently no residual glucocerebrosidase enzyme activity. We speculate that mutation 122CC may result in a worse prognosis than mutations associated with partial activity. When present in the homozygous form, it could be a lethal allele similar to what has been postulated for the other known insertion mutation, 84GG. Our patient, who is a compound heterozygote 122CC/1226G, has moderately severe type 1 Gaucher disease. Her clinical response to Ceredase{reg_sign} therapy that began 31 months ago has been favorable, though incomplete. 30 refs., 3 figs., 2 tabs.

  12. Study of influence content of TiB2 by reaction in situ B4C and TiC in mechanical properties on B4C ceramics

    International Nuclear Information System (INIS)

    Coelho, M.L. Ramos; Bressiani, J.C.; Gomide, R.G.; Andrade, F.A. de

    2012-01-01

    The low density of ceramic materials promoted a change in research lines in the defense field. Research efforts and development directed to obtaining products of high density sintered of Al2O3, SiC and B4C, using different routes, both traditional as innovative, led to promising initial results, which justify the convergence of skills for the consolidation of research lines and the nationalization that sintered components of B4C with characteristics and properties compatible with the technical requirements established for the ballistic application. The low density of boron carbide (2.52 g/cm 3 ) gives in the final product a weight approximately 30% lower than armor made of alumina (3.96 g/cm 3 ). (author)

  13. Targeting the Immunogenetic Diseases with the Appropriate HLA Molecular Typing: Critical Appraisal on 2666 Patients Typed in One Single Centre

    Directory of Open Access Journals (Sweden)

    M. Guarene

    2013-01-01

    Full Text Available We compared the immunogenetic data from 2666 patients affected by HLA-related autoimmune diseases with those from 4389 ethnically matched controls (3157 cord blood donors CBD, 1232 adult bone marrow donors BMD, to verify the appropriateness of HLA typing requests received in the past decade. The frequency of HLA-B*27 phenotype was 10.50% in 724 ankylosing spondylitis, 16.80% in 125 uveitis (3.41% BMD, 4.24% CBD, P<0.0001; HLA-B*51 allele was 15.57% in 212 Behçet’s disease (12.91% BMD, 9.88% CBD, P<0.0001; the HLA-DRB1-rheumatoid arthritis (RA shared epitope was 13.72% in 554 RA (10.85% BMD, 13.48% CBD, P=0.016; the carriers of almost one of HLA-DQB1 susceptibility alleles were 84.91% in 795 celiac disease (CD and 59.37% in 256 insulin-dependent diabetes mellitus (IDDM (46.06% in 875 CBD, 42.75% in 662 BMD P<0.0001. Overall, our results show that the HLA marker frequencies were higher in patients than controls, but lower than expected from the literature data (excluding CD and IDDM and demonstrate that, in complex immunogenetic conditions, a substantial number of genetic analyses are redundant and inappropriate, burdening to the public health costs. For this reason, we suggest the Italian Scientific Society of Immunogenetics to establish guidelines to improve the appropriateness of typing requests.

  14. Boron carbide (B{sub 4}C) coating. Deposition and testing

    Energy Technology Data Exchange (ETDEWEB)

    Azizov, E.; Barsuk, V. [Troitsk Institute for Innovation and Fusion Research (TRINITI), Moscow Region (Russian Federation); Begrambekov, L., E-mail: lbb@plasma.mephi.ru [National Research Nuclear University MEPhI (Moscow Engineering Physics Institute), Moscow (Russian Federation); Buzhinsky, O. [Troitsk Institute for Innovation and Fusion Research (TRINITI), Moscow Region (Russian Federation); Evsin, A.; Gordeev, A.; Grunin, A. [National Research Nuclear University MEPhI (Moscow Engineering Physics Institute), Moscow (Russian Federation); Klimov, N. [Troitsk Institute for Innovation and Fusion Research (TRINITI), Moscow Region (Russian Federation); Kurnaev, V. [National Research Nuclear University MEPhI (Moscow Engineering Physics Institute), Moscow (Russian Federation); Mazul, I. [Federal State Unitary Interprise Efremov Scientific Research Institute of Electrophysical Apparatus (NIIEFA Efremov), St-Peterburg (Russian Federation); Otroshchenko, V.; Putric, A. [Troitsk Institute for Innovation and Fusion Research (TRINITI), Moscow Region (Russian Federation); Sadovskiy, Ya.; Shigin, P.; Vergazov, S.; Zakharov, A. [National Research Nuclear University MEPhI (Moscow Engineering Physics Institute), Moscow (Russian Federation)

    2015-08-15

    Boron carbide was proposed as a material of in-situ protecting coating for tungsten tiles of ITER divertor. To prove this concept the project including investigation of regimes of plasma deposition of B{sub 4}C coating on tungsten and tests of boron carbide layer in ITER-like is started recently. The paper contends the first results of the project. The results of B{sub 4}C coating irradiation by the plasma pulses of QSPU-T plasma accelerator are presented. The new device capable of B{sub 4}C film deposition on tungsten and testing of the films and materials with ITER-like heat loads and ion- and electron irradiation is described. The results of B{sub 4}C coating deposition and testing of both tungsten substrate and coating are shown and discussed.

  15. The mean grain size determination of boron carbide (B4C)-aluminium (Al) and boron carbide (B4C)-nickel (Ni) composites by ultrasonic velocity technique

    International Nuclear Information System (INIS)

    Unal, Ridvan; Sarpuen, Ismail H.; Yalim, H. Ali; Erol, Ayhan; Ozdemir, Tuba; Tuncel, Sabri

    2006-01-01

    In this study, the mean grain size of ceramic-metal composites, made from boron carbide (B 4 C)-aluminium (Al)-nickel (Ni) powders, has been determined with ultrasonic velocity technique by using a 2 MHz transducer. An ultrasonic velocity-grain size master graph was plotted using a 4 MHz ultrasonic transducer. The results were compared to the mean grain size obtained from SEM (Scanning Electron Microscopy) images

  16. Cerebrospinal fluid levels of Alzheimer's disease biomarkers in middle-aged patients with type 1 diabetes.

    Science.gov (United States)

    Ouwens, D Margriet; van Duinkerken, Eelco; Schoonenboom, S Niki M; Herzfeld de Wiza, Daniella; Klein, Martin; van Golen, Larissa; Pouwels, Petra J W; Barkhof, Frederik; Moll, Annette C; Snoek, Frank J; Teunissen, Charlotte E; Scheltens, Philip; Diamant, Michaela

    2014-10-01

    Type 1 diabetes is associated with moderate cognitive decline and cerebral alterations and may lead to an increased risk of dementia, including Alzheimer's disease. This study aimed to investigate the levels of risk markers for Alzheimer's disease in middle-aged patients with type 1 diabetes and controls, and their potential associations with cognitive and cerebral measures. Levels of β-amyloid (Aβ) 42, Tau, phosphorylated Tau (pTau), the soluble form of low-density lipoprotein receptor-related protein 1 (sLRP1) and macrophage colony-stimulating factor (MCSF) were quantified by ELISA in serum and cerebrospinal fluid (CSF) collected from 37 patients with type 1 diabetes and 15 controls. Associations between biomarkers and determinants of cognitive function and white matter integrity were assessed using hierarchical regression analysis controlling for age, HbA1c and estimated intelligence quotient (IQ). CSF levels of pTau, Aβ42 and LRP1 were higher in patients with type 1 diabetes than in controls (all p < 0.05). There was a trend towards increased Tau levels in patients with type 1 diabetes (p = 0.056), while CSF levels of MCSF were similar between patients with type 1 diabetes and controls. Regression analysis showed that elevated CSF sLRP1 levels were associated with better attention (β = 0.518; p = 0.002) and a better speed of information-processing (β = 0.368; p = 0.034), as well as increased integrity of the white matter of the right inferior fronto-occipital tract (β = 0.395; p = 0.022). Furthermore, elevated Tau levels were associated with decreased integrity of the white matter of right inferior fronto-occipital tract (β = -0.584; p = 0.002). CSF levels of biomarkers for Alzheimer's disease are altered in patients with type 1 diabetes compared with controls, but the observed profile does not match the profile characterising pre-Alzheimer's disease patients.

  17. JACoW SIP4C/C++ at CERN - Status and lessons learned

    CERN Document Server

    Jensen, Steen; Dworak, Andrzej; Gourber-Pace, Marine; Hoguin, Frederic; Lauener, Joel; Locci, Frank; Sigerud, Katarina; Sliwinski, Wojciech

    2018-01-01

    After 4 years of promoting the Software Improvement Process for C/C++ (SIP4C/C++) initiative at CERN, we describe the current status for tools and procedures along with how they have been integrated into our environment. Based on feedback from four project teams, we present reasons for and against their adoption. Finally, we show how SIP4C/C++ has improved development and delivery processes as well as the first-line support of delivered products.

  18. First-principles investigation of neutron-irradiation-induced point defects in B4C, a neutron absorber for sodium-cooled fast nuclear reactors

    Science.gov (United States)

    You, Yan; Yoshida, Katsumi; Yano, Toyohiko

    2018-05-01

    Boron carbide (B4C) is a leading candidate neutron absorber material for sodium-cooled fast nuclear reactors owing to its excellent neutron-capture capability. The formation and migration energies of the neutron-irradiation-induced defects, including vacancies, neutron-capture reaction products, and knocked-out atoms were studied by density functional theory calculations. The vacancy-type defects tend to migrate to the C–B–C chains of B4C, which indicates that the icosahedral cage structures of B4C have strong resistance to neutron irradiation. We found that lithium and helium atoms had significantly lower migration barriers along the rhombohedral (111) plane of B4C than perpendicular to this plane. This implies that the helium and lithium interstitials tended to follow a two-dimensional diffusion regime in B4C at low temperatures which explains the formation of flat disk like helium bubbles experimentally observed in B4C pellets after neutron irradiation. The knocked-out atoms are considered to be annihilated by the recombination of the close pairs of self-interstitials and vacancies.

  19. Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease

    NARCIS (Netherlands)

    Marques, André R. A.; Gabriel, Tanit L.; Aten, Jan; van Roomen, Cindy P. A. A.; Ottenhoff, Roelof; Claessen, Nike; Alfonso, Pilar; Irún, Pilar; Giraldo, Pilar; Aerts, Johannes M. F. G.; van Eijk, Marco

    2016-01-01

    Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying Niemann-Pick type C (NPC) disease. In addition, glycosphingolipids (GSLs) accumulate in lysosomes as well. Intralysosomal lipid accumulation

  20. Biotypes and ScM types of isolates of Streptococcus canis from diseased and healthy cats.

    Science.gov (United States)

    Timoney, J F; Velineni, S; Ulrich, B; Blanchard, P

    2017-04-08

    Lancefield group G Streptococcus canis is a component of the normal urogenital and pharyngeal flora of the cat. It is also frequently implicated in epizootics of severe disease in closed cat colonies and animal shelters. Given the importance of S canis as a feline pathogen and relative lack of published information on characteristics potentially associated with virulence, the authors have compared isolates from healthy and diseased cats in New York and California using fermentation profiles (biotype) and ScM sequences. With few exceptions, isolates associated with disease were biotype 1. Four alleles of scm were identified of which type 1 dominated in diseased cats. Type 4 allelic variants were found only in healthy cats and all but one were biotype 2. Type 2 and 3 alleles showed extensive N-terminal variation suggesting a plasminogen-binding site as found on the type 1 allele was absent. Cat antisera to ScM were opsonobactericidal, and these potentially protective antibodies increased during convalescence. British Veterinary Association.

  1. Epidemiology of invasive Haemophilus influenzae type b disease and the susceptibility of aggregate hosts.

    Science.gov (United States)

    Danuz, Wanda Alexandra

    2015-02-01

    Haemophilus influenzae type b bacteria has been responsible for recent increase in invasive disease in the adult population of the United States. This increase in H. influenzae infections is greatest in individuals above 65 years of age. A plausible explanation for this increase may be the changes observed in the epidemiology of invasive H. influenzae type b (Hib) disease and the susceptibility of aggregate hosts. A comprehensive literature review was conducted from multiple data sources, such as PubMed, MEDLINE, CDC, journal articles, reference texts, and Internet websites. The increase in infectious disease caused by H. influenzae type b bacteria is affecting individuals 65 years and older and is preventable. However, Hib vaccines are currently approved for the pediatric population and susceptible adults with certain immune deficiencies. New trends in this invasive disease require reevaluation of current guidelines to include individuals 65 years and older as target population for the polysaccharide Hib vaccine. The changing epidemiology of H. influenzae type b bacteria requires reevaluation of current immunization guidelines regarding Hib vaccination so that it is included in the immunization schedule for adults aged 65 and above. ©2014 American Association of Nurse Practitioners.

  2. Hepatocytes Contribute to Residual Glucose Production in a Mouse Model for Glycogen Storage Disease Type Ia

    NARCIS (Netherlands)

    Hijmans, Brenda S.; Boss, Andreas; van Dijk, Theo H.; Soty, Maud; Wolters, Henk; Mutel, Elodie; Groen, Albert K.; Derks, Terry G. J.; Mithieux, Gilles; Heerschap, Arend; Reijngoud, Dirk-Jan; Rajas, Fabienne; Oosterveer, Maaike H.

    2017-01-01

    It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production despite the loss of glucose-6-phosphatase activity. Insight into the source of residual endogenous glucose production is of clinical importance given the risk

  3. Role of bovine herpesvirus type 5 (BoHV-5) in diseases of cattle ...

    African Journals Online (AJOL)

    Bovine herpesvirus type 5 (BoHV-5) belongs to the family Herpesviridae, subfamily Alphaherpesvirinae, genus Varicellovirus. This virus is a major causative agent of non-suppurative meningoencephalitis in young cattle. It was first isolated in 1962 from a neurological disease outbreak in Australia. BoHV-5 is genetically and ...

  4. Cardiovascular disease morbidity and mortality in patients with type 1 diabetes mellitus: Management Strategies

    NARCIS (Netherlands)

    Soedamah-Muthu, S.S.; Stehouwer, C.D.A.

    2005-01-01

    There is an increased risk of cardiovascular disease (CVD) mortality and morbidity in patients with type 1 diabetes mellitus compared with the general population as shown by epidemiologic studies measuring cardiovascular endpoints, as well as by autopsy, angiographic, and coronary calcification

  5. Cardiovascular disease morbidity and mortality in patients with type 1 diabetes mellitus: management strategies

    NARCIS (Netherlands)

    Soedamah-Muthu, S.S.; Stehouwer, C.D.A.

    2005-01-01

    There is an increased risk of cardiovascular disease (CVD) mortality and morbidity in patients with type 1 diabetes mellitus compared with the general population as shown by epidemiologic studies measuring cardiovascular endpoints, as well as by autopsy, angiographic, and coronary calcification

  6. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

    DEFF Research Database (Denmark)

    van Zuydam, Natalie R; Ahlqvist, Emma; Sandholm, Niina

    2018-01-01

    Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight...

  7. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

    NARCIS (Netherlands)

    Wijburg, F. A.; Sedel, F.; Pineda, M.; Hendriksz, C. J.; Fahey, M.; Walterfang, M.; Patterson, M. C.; Wraith, J. E.; Kolb, S. A.

    2012-01-01

    Objectives: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion

  8. Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease

    NARCIS (Netherlands)

    Brinkman, J.; Wijburg, F. A.; Hollak, C. E.; Groener, J. E.; Verhoek, M.; Scheij, S.; Aten, J.; Boot, R. G.; Aerts, J. M.

    2005-01-01

    Type B Niemann-Pick disease (NPD) is a nonneuronopathic lysosomal storage disorder which is characterized by accumulation of sphingomyelin-laden macrophages. The availability of plasma markers for storage cells may be of great value in facilitating therapeutic decisions. Given the similarity of the

  9. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

    NARCIS (Netherlands)

    Weinreb, Neal J.; Goldblatt, Jack; Villalobos, Jacobo; Charrow, Joel; Cole, J. Alexander; Kerstenetzky, Marcelo; vom Dahl, Stephan; Hollak, Carla

    2013-01-01

    We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1). The International Collaborative Gaucher Group (ICGG) Gaucher Registry

  10. Glycogen storage disease type III : diagnosis, genotype, management, clinical course and outcome

    NARCIS (Netherlands)

    Sentner, Christiaan P.; Hoogeveen, Irene J.; Weinstein, David A.; Santer, Rene; Murphy, Elaine; McKiernan, Patrick J.; Steuerwald, Ulrike; Beauchamp, Nicholas J.; Taybert, Joanna; Laforet, Pascal; Petit, Francois M.; Hubert, Aurelie; Labrune, Philippe; Smit, G. Peter A.; Derks, Terry G. J.

    Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only

  11. Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I

    NARCIS (Netherlands)

    Calderaro, Julien; Labrune, Philippe; Morcrette, Guillaume; Rebouissou, Sandra; Franco, Dominique; Prevot, Sophie; Quaglia, Alberto; Bedossa, Pierre; Libbrecht, Louis; Terracciano, Luigi; Smit, G. Peter A.; Bioulac-Sage, Paulette; Zucman-Rossi, Jessica

    Background & Aims: Hepatocellular adenomas (HCA) are benign liver tumors mainly related to oral contraception and classified into 4 molecular subgroups: inflammatory (IHCA), HNF1A-inactivated (H-HCA), beta-catenin-activated (bHCA) or unclassified (UHCA). Glycogen storage disease type I (GSD) is a

  12. Endogenous and recombinant type I interferons and disease activity in multiple sclerosis

    DEFF Research Database (Denmark)

    Sellebjerg, Finn; Krakauer, Martin; Limborg, Signe

    2012-01-01

    Although treatment of multiple sclerosis (MS) with the type I interferon (IFN) IFN-ß lowers disease activity, the role of endogenous type I IFN in MS remains controversial. We studied CD4+ T cells and CD4+ T cell subsets, monocytes and dendritic cells by flow cytometry and analysed the relationship...... with endogenous type I IFN-like activity, the effect of IFN-ß therapy, and clinical and magnetic resonance imaging (MRI) disease activity in MS patients. Endogenous type I IFN activity was associated with decreased expression of the integrin subunit CD49d (VLA-4) on CD4+CD26(high) T cells (Th1 helper cells......), and this effect was associated with less MRI disease activity. IFN-ß therapy reduced CD49d expression on CD4+CD26(high) T cells, and the percentage of CD4+CD26(high) T cells that were CD49d(high) correlated with clinical and MRI disease activity in patients treated with IFN-ß. Treatment with IFN-ß also increased...

  13. Niemann–Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis

    Directory of Open Access Journals (Sweden)

    Farzan Kianersi

    2017-01-01

    Full Text Available In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma. She had mild inflammatory signs and also vertical ocular motility limitations.

  14. Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

    Science.gov (United States)

    Jagadisan, Barath; Ranganath, Prajnya

    2017-09-15

    Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. A pathogenic mutation in PYGL gene suggested GSD-VI. GSD-VI should be a differential diagnosis whenever GSD-III is suspected.

  15. Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels

    NARCIS (Netherlands)

    Langeveld, M.; Endert, E.; Wiersinga, W. M.; Aerts, J. M. F. G.; Hollak, C. E. M.

    2007-01-01

    Type I Gaucher disease (OMIM 231000) is an inherited storage disorder in which deficiency of the enzyme glucocerebrosidase (EC 32145) leads to accumulation of glucocerebroside in lysosomes of macrophages. These storage cells are present in liver, spleen and bone marrow resulting in

  16. A Trial of Darbepoetin Alfa in Type 2 Diabetes and Chronic Kidney Disease

    NARCIS (Netherlands)

    Pfeffer, Marc A.; Burdmann, Emmanuel A.; Chen, Chao-Yin; Cooper, Mark E.; de Zeeuw, Dick; Eckardt, Kai-Uwe; Feyzi, Jan M.; Ivanovich, Peter; Kewalramani, Reshma; Levey, Andrew S.; Lewis, Eldrin F.; McGill, Janet B.; McMurray, John J. V.; Parfrey, Patrick; Parving, Hans-Henrik; Remuzzi, Giuseppe; Singh, Ajay K.; Solomon, Scott D.; Toto, Robert

    2009-01-01

    BACKGROUND Anemia is associated with an increased risk of cardiovascular and renal events among patients with type 2 diabetes and chronic kidney disease. Although darbepoetin alfa can effectively increase hemoglobin levels, its effect on clinical outcomes in these patients has not been adequately

  17. Retinopathy and clinical outcomes in patients with type 2 diabetes mellitus, chronic kidney disease, and anemia

    NARCIS (Netherlands)

    Bello, Natalie A; Pfeffer, Marc A; Skali, Hicham; McGill, Janet B; Rossert, Jerome; Olson, Kurt A; Weinrauch, Larry; Cooper, Mark E; de Zeeuw, Dick; Rossing, Peter; McMurray, John J V; Solomon, Scott D

    2014-01-01

    OBJECTIVE: Retinopathy is an established microvascular complication of type 2 diabetes mellitus (T2DM), but its independent relationship with macrovascular and other microvascular complications is less well defined across the spectrum of kidney disease in T2DM. We examined the prognostic value of

  18. A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib

    NARCIS (Netherlands)

    Verhoeven, A.J.; Visser, G; Van Zwieten, R; Gruszczynska, B; Poll-The, DWEET; Smit, GPA

    Neutrophils from patients suffering from glycogen storage disease type To (GSD-Ib) show several defects, one of which is a decreased rate of glucose utilization. In this study, we established experimental conditions to show the stimulation of the neutrophil respiratory burst by extracellular

  19. Neurological signs in relation to type of cerebrovascular disease in vascular dementia

    NARCIS (Netherlands)

    Staekenborg, S.S.; van der Flier, W.M.; van Straaten, E.C.W.; Lane, R.; Barkhof, F.; Scheltens, P.

    2008-01-01

    BACKGROUND AND PURPOSE - The aim of this study was to describe the prevalence of a number of neurological signs in a large population of patients with vascular dementia (VaD) and to compare the relative frequency of specific neurological signs dependent on type of cerebrovascular disease. METHODS -

  20. Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

    NARCIS (Netherlands)

    Martens, Danielle H. J.; Rake, Jan Peter; Navis, Gerjan; Fidler, Vaclav; van Dael, Catharina M. L.; Smit, G. Peter A.

    2009-01-01

    Background and objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of

  1. Aspirin in the prevention of cardiovascular disease in type 2 diabetes

    NARCIS (Netherlands)

    Hovens, Marcel Maria Christiaan

    2010-01-01

    In the first of this thesis, results are summarized of a randomised crossover trial on the effects of aspirin on markers of inflammation, coagulation and number of endothelial progenitor cells in type 2 diabetic patients without cardiovascular disease. In the second part, results of two systematic

  2. Screening for thyroid disease among children and adolescents with type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Magdy A. Omar

    2014-03-01

    Conclusion: Although serum TSH screening is more sensitive for detecting thyroid abnormalities in children and adolescents with type1 diabetes, the presence of positive serum anti-TPO antibodies may be an earlier marker for thyroid disease, therefore, patients with positive antibodies should be monitored for serum TSH elevation at yearly intervals.

  3. Causal effect of plasminogen activator inhibitor type 1 on coronary heart disease

    NARCIS (Netherlands)

    Song, Ci; Burgess, Stephen; Eicher, John D.; O'Donnell, Christopher J.; Johnson, Andrew D.; Huang, Jie; Sabater-Lleal, Maria; Asselbergs, Folkert W.; Tregouet, David-Alexandre; Shin, So Youn; Ding, Jingzhong; Baumert, Jens; Oudot-Mellakh, Tiphaine; Folkersen, Lasse; Smith, Nicholas L.; Williams, Scott M; Ikram, Mohammad Arfan; Kleber, Marcus E.; Becker, Diane M.; Truong, Vinh; Mychaleckyj, Josyf C.; Tang, Weihong; Yang, Qiong; Sennblad, Bengt; Moore, Jason H; Williams, Frances M.K.; Dehghan, Abbas; Silbernagel, Günther; Schrijvers, Elisabeth M.C.; Smith, Shelly; Karakas, Mahir; Tofler, Geoffrey H.; Silveira, Angela; Navis, Gerjan J.; Lohman, Kurt; Chen, Ming Huei; Peters, Annette; Goel, Anuj; Hopewell, Jemma C.; Chambers, John C.; Saleheen, Danish; Lundmark, Per; Psaty, Bruce M.; Strawbridge, Rona J.; Boehm, Bernhard O.; Carter, Angela M.; Meisinger, Christa; Peden, John F.; Bis, Joshua C.; McKnight, Barbara; Öhrvik, John; Taylor, Kent D.; Franzosi, Maria Grazia; Seedorf, Udo; Collins, Rory; Franco-Cereceda, Anders; Syvänen, Ann-Christine; Goodall, Alison H.; Yanek, Lisa R.; Cushman, Mary; Müller-Nurasyid, Martina; Folsom, Aaron R.; Basu, Saonli; Matijevic, Nena; van Gilst, Wiek H.; Kooner, Jaspal S.; Danesh, John; Clarke, Robert; Meigs, James B; Kathiresan, Sekar; Reilly, Muredach P; Klopp, Norman; Harris, Tamara B.; Winkelmann, Bernhard R.; Grant, Peter J.; Hillege, Hans L.; Watkins, Hugh; Spector, Timothy D; Becker, Lewis C; Tracy, Russell P.; März, Winfried; Uitterlinden, Andre G; Eriksson, Per; Cambien, Francois; Morange, Pierre Emmanuel; Koenig, Wolfgang; Soranzo, Nicole; van der Harst, Pim; Liu, Yongmei; Hamsten, Anders; Ehret, Georg B.; Munroe, Patricia B.; Rice, Kenneth M.; Bochud, Murielle; Chasman, Daniel I.; Smith, Albert V.; Tobin, Martin D; Verwoert, Germaine C; Hwang, Shih-Jen; Pihur, Vasyl; Vollenweider, Peter; O'Reilly, Paul F.; Amin, Najaf; Bragg-Gresham, Jennifer L.; Teumer, Alexander; Glazer, Nicole L.; Launer, Lenore J.; Zhao, Jing Hua; Aulchenko, Yurii S.; Heath, Simon; Sõber, Siim; Parsa, Afshin; Luan, Jian'an; Arora, Pankaj; Zhang, Feng; Lucas, Gavin; Hicks, Andrew A.; Jackson, Anne U.; Tanaka, Toshiko; Wild, Sarah H.; Rudan, Igor; Igl, Wilmar; Milaneschi, Yuri; Parker, Alex N.; Fava, Cristiano; Fox, Ervin R.; Kumari, Meena; Go, Min Jin; Linda Kao, Wen Hong; Sjögren, Marketa; Vinay, D. G.; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H.; Shi, Gang; Kuusisto, Johanna; Tayo, Bamidele O.; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh Dung Hoang; Lehtimäki, Terho; Matullo, Giuseppe; Wu, Ying; Gaunt, Tom R.; Onland-Moret, N. Charlotte; Cooper, Matthew N.; Platou, Carl G P; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S; Kuznetsova, Tatiana; Uiterwaal, Cuno S.P.M.; Adeyemo, Adebowale; Palmas, Walter R.; Campbell, Harry; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D.; Aspelund, Thor; Garcia, Melissa; Chang, Yen Pei C.; O'Connell, Jeffrey R.; Steinle, Nanette I.; Grobbee, Diederick E.; Arking, Dan E.; Kardia, Sharon L. R.; Morrison, Alanna C.; Hernandez, Dena G.; Najjar, Samer; McArdle, Wendy L.; Hadley, David; Brown, Morris J; Connell, John M; Hingorani, Aroon D.; Day, Ian N M; Lawlor, Debbie A.; Beilby, John P.; Lawrence, Robert W.; Ongen, Halit; Dreisbach, Albert W; Li, Yali; Young, J. Hunter; Kähönen, Mika; Viikari, Jorma S.; Adair, Linda S.; Lee, Nanette R.; Olden, Matthias; Pattaro, Cristian; Hoffman Bolton, Judith A.; Köttgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M.; Islam, Muhammad; Jafar, Tazeen H.; Erdmann, Jeanette; Kulkarni, Smita R.; Bornstein, Stefan R.; Grässler, Jürgen; Groop, Leif C.; Voight, Benjamin F; Kettunen, Johannes; Howard, Philip; Taylor, Andrew; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Barroso, Inês; Khaw, Kay Tee; Weder, Alan B.; Hunt, Steven C.; Sun, Yan V.; Bergman, Richard N.; Collins, Francis S.; Bonnycastle, Lori L.; Scott, Laura J; Stringham, Heather M.; Peltonen, Leena; Perola, Markus; Vartiainen, Erkki; Brand, Stefan Martin; Staessen, Jan A.; Wang, Thomas J.; Burton, Paul R.; Artigas, Maria Soler; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt; Rudock, Megan E.; Heckbert, Susan R; Wiggins, Kerri L.; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairaj; Tripathy, Vikal; Langefeld, Carl D.; Rosengren, Annika; Thelle, Dag S.; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; McKenzie, Colin A.; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H-Erich; Cho, Yoon Shin; Kim, Hyung Lae; Lee, Jong-Young; Scott, James; Sehmi, Joban S.; Zhang, Weihua; Hedblad, Bo; Nilsson, Peter M.; Smith, George Davey; Wong, Andrew; Narisu, Narisu; Stančáková, Alena; Raffel, Leslie J.; Yao, Jie; Schwartz, Stephen M.; Arfan Ikram, M.; Longstreth, W.T. jr.; Mosley, Thomas H; Seshadri, Sudha; Shrine, Nick R.G.; Wain, Louise V.; Morken, Mario A.; Swift, Amy J.; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A.; Humphries, Steve E.; Rasheed, Asif; Bakker, Stephan J. L.; Janipalli, Charles S.; Mani, K. Radha; Yajnik, Chittaranjan S.; Mattace-Raso, Francesco U.S.; Oostra, Ben A.; Demirkan, Ayse; Isaacs, Aaron; Rivadeneira, Fernando; Lakatta, Edward G; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J.; Lyytikäinen, Leo-Pekka; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee Hee; Dörr, Marcus; Kroemer, Heyo K; Völker, Uwe; Völzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Deloukas, Panos; Mangino, Massimo; Zhai, Guangju; Meschia, James F.; Nalls, Michael A.; Sharma, Pankaj; Terzic, Janos; Kumar, M. V.Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E.; Fowkes, F. Gerald R.; Charchar, Fadi J; Schwarz, Peter E. H.; Hayward, Caroline; Guo, Xiuqing; Rotimi, Charles N.; Bots, Michiel L.; Brand, Eva; Samani, Nilesh J.; Polasek, Ozren; Talmud, Philippa J.; Nyberg, Fredrik; Kuh, Diana; Laan, Maris; Hveem, Kristian; Palmer, Lyle J.; van der Schouw, Yvonne T.; Casas, Juan P.; Mohlke, Karen L.; Vineis, Paolo; Raitakari, Olli T.; Ganesh, Santhi K.; Wong, Tien-Yin; Shyong Tai, E.; Cooper, Richard S.; Laakso, Markku; Rao, Dabeeru C.; Morris, Richard W.; Dominiczak, Anna F.; Kivimaki, Mika; Marmot, Michael G.; Miki, Tetsuro; Chandak, Giriraj R.; Coresh, Josef; Navis, Gerjan J.; Salomaa, Veikko; Han, Bok-Ghee; Zhu, Xiaofeng; Melander, Olle; Ridker, Paul M.; Bandinelli, Stefania; Gyllensten, Ulf B.; Wright, Alan F.; Wilson, James F.; Ferrucci, Luigi; Farrall, Martin; Tuomilehto, Jaakko; Pramstaller, Peter P.; Elosua, Roberto; Sijbrands, Eric J. G.; Altshuler, David; Loos, Ruth J. F.; Gieger, Christian; Meneton, Pierre; Wareham, Nicholas J.; Gudnason, Vilmundur; Rotter, Jerome I.; Rettig, Rainer; Uda, Manuela; Strachan, David P.; Witteman, Jacqueline C M; Hartikainen, Anna-Liisa; Beckmann, Jacques S.; Boerwinkle, Eric; Vasan, Ramachandran S; Boehnke, Michael; Larson, Martin G.; Järvelin, Marjo-Riitta; Abecasis, Gonçalo R.; Chakravarti, Aravinda; Elliott, Paul; Van Duijn, Cornelia M.; Newton-Cheh, Christopher; Levy, Daniel; Caulfield, Mark J.; Johnson, Toby; van der Lugt, Aad; Shuldiner, Alan R.; Hofman, Albert; Kraja, Aldi T.; Uitterlinden, Andre G; Ziegler, Andreas; Newman, Anne B; Schillert, Arne; Oostra, Ben A.; Thorsson, Bolli; Mitchell, Braxton D.; Fox, Caroline S.; White, Charles C.; Ballantyne, Christie; Van Duijn, Cornelia M.; Herrington, David M.; O'Leary, Daniel H.; Siscovick, David S.; Couper, David J; Halperin, Eran; Stoegerer, Eva Maria; Ernst, Florian; Krestin, Gabriel P.; Homuth, Georg; Heiss, Gerardo; Usala, Gianluca; Eiriksdottir, Gudny; Shen, Haiqing; Erich Wichmann, H.; Schmidt, Helena; Borecki, Ingrid B.; Markus, Hugh S.; Witteman, Jacqueline C.; Lüdemann, Jan; Huffman, Jennifer E.; Murabito, Joanne M.; Thiery, Joachim; Seissler, Jochen; Massaro, Joseph M.; Polak, Joseph F.; Cunningham, Julie; North, Kari E.; Petrovic, Katja E; Rice, Kenneth M.; Adrienne Cupples, L.; Bielak, Lawrence F.; Launer, Lenore J.; de Andrade, Mariza; Feitosa, Mary F.; Kavousi, Maryam; Sitzer, Matthias; Oudkerk, Matthijs; Province, Michael A.; Nalls, Michael A.; Franceschini, Nora; Peyser, Patricia A.; Wolf, Philip A.; Zhang, Qunyuan; Wild, Philipp S; Schnabel, Renate B.; D'Agostino, Ralph B.; Chilukoti, Ravi Kumar; Schmidt, Reinhold; Sanna, Serena; Demissie, Serkalem; Sigurdsson, Sigurdur; Blankenberg, Stefan; Bevan, Steve; Elias-Smale, Suzette E.; Zeller, Tanja; Illig, Thomas; Münzel, Thomas; Howard, Timothy D.; Hoffmann, Udo; Schminke, Ulf; Nambi, Vijay; Post, Wendy S.; Rathmann, Wolfgang; Li, Xia; Cheng, Yu Ching

    2017-01-01

    Background--Plasminogen activator inhibitor type 1 (PAI-1) plays an essential role in the fibrinolysis system and thrombosis. Population studies have reported that blood PAI-1 levels are associated with increased risk of coronary heart disease (CHD). However, it is unclear whether the association

  4. Hand involvement in children with Charcot-Marie-Tooth disease type 1A

    NARCIS (Netherlands)

    Burns, Joshua; Bray, Paula; Cross, Lauren A.; North, Kathryn N.; Ryan, Monique M.; Ouvrier, Robert A.

    2008-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating neuropathy characterised by progressive length-dependent muscle weakness and atrophy, is thought to affect the foot and leg first followed some time later by hand weakness and dysfunction. We aimed to characterise hand Strength, function

  5. Anaplastic Large-Cell Lymphoma in a Child with Type I Diabetes and Unrecognised Coeliac Disease

    Directory of Open Access Journals (Sweden)

    Jemima Sharp

    2012-01-01

    Full Text Available Screening for coeliac disease is recommended for children from certain risk groups, with implications for diagnostic procedures and dietetic management. The risk of a malignant complication in untreated coeliac disease is not considered high in children. We present the case of a girl with type I diabetes who developed weight loss, fatigue, and inguinal lymphadenopathy. Four years before, when she was asymptomatic, a screening coeliac tTG test was positive, but gluten was not eliminated from her diet. Based on clinical examination, a duodenal biopsy, and an inguinal lymph node biopsy were performed, which confirmed both coeliac disease and an anaplastic large-cell lymphoma. HLA-typing demonstrated that she was homozygous for HLA-DQ8, which is associated with higher risk for celiac disease, more severe gluten sensitivity, and diabetes susceptibility. She responded well to chemotherapy and has been in remission for over 4 years. She remains on a gluten-free diet. This is the first case reporting the association of coeliac disease, type I diabetes, and anaplastic large-cell lymphoma in childhood. The case highlights the malignancy risk in a genetically predisposed individual, and the possible role of a perpetuated immunologic response by prolonged gluten exposure.

  6. Type I/II cytokines, JAKs, and new strategies for treating autoimmune diseases

    Science.gov (United States)

    Schwartz, Daniella M.; Bonelli, Michael; Gadina, Massimo; O’Shea, John J.

    2015-01-01

    Cytokines are major drivers of autoimmunity, and biologic agents targeting cytokines have revolutionized the treatment of immune-mediated diseases. Despite the effectiveness of these drugs, they do not induce complete remission in all patients, prompting the development of alternative strategies—including targeting of intracellular signal transduction pathways downstream of cytokines. Many cytokines that bind type I and type II cytokine receptors are critical regulators of immune-mediated diseases and employ the Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathway to exert their effect. Pharmacological inhibition of JAKs block the actions of type I/II cytokines, and within the past 3 years therapeutic JAK inhibitors, or Jakinibs, have become available to rheumatologists. Jakinibs have proven effective for the treatment of rheumatoid arthritis and other inflammatory diseases. Adverse effects of these agents are largely related to their mode of action and include infections and hyperlipidemia. Jakinibs are currently being investigated for a number of new indications, and second-generation selective Jakinibs are being developed and tested. Targeting STATs could be a future avenue for the treatment of rheumatic diseases, although substantial challenges remain. Nonetheless, the ability to therapeutically target intracellular signalling pathways has already created a new paradigm for the treatment of rheumatologic disease. PMID:26633291

  7. HLA Typing and Histopathologic Features of Patients with Celiac Disease-A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Gulay Ceylan

    2014-12-01

    Full Text Available Aim: Celiac disease is the most common defect of nutrition intolerance. There is an increased sensitivity to the glutene. It is inherited multifactorial, because of this, genetic and enviromental factors are important in the evaluation. The existence of specific human leukocyte antigen alleles coding especially DQ2 and DQ8 are important at the diagnosis of celiac disease. In this study, it is aimed to determine human leukocyte antigens allel distribution for celiac disease in patients with chronic diarrhea, abdominal pain and similar symptomes. Material and Method: The prevalance of human leukocyte antigens of 40 patients applied to our laboratory were searched using polimerase chain reaction-sequence specific primer method. Marsh classification of the patients were also performed by a pathologist. Results: We determined human leukocyte antigens in 95% of the patients. The most common antigens were DQA1*0501 and DQB1*0201. The combination of DQA1*0501 and DRB1*04 was the least. According to Marsh classification, Grade 2 Marsh Type 4 hypoplastic was the most common type. Discussion: The human leukocyte antigen typing is helpful for the clinicians at the progression of the celiac disease and at the prediction of the tendency to the disease.

  8. Enhanced tensile strength and thermal conductivity in copper diamond composites with B4C coating.

    Science.gov (United States)

    Sun, Youhong; He, Linkai; Zhang, Chi; Meng, Qingnan; Liu, Baochang; Gao, Ke; Wen, Mao; Zheng, Weitao

    2017-09-06

    Boron carbide (B 4 C) coating on diamond particle is synthesized by heating diamond particles in a powder mix of H 3 BO 3 and B in Ar atmosphere. The composition, bond state and coverage fraction of boron carbide coating on diamond particles are investigated. The boron carbide coating favors to grow on diamond (100) surface rather than on diamond (111) surface. Cu matrix composites reinforced with B 4 C-coated diamond particles were made by powder metallurgy. The addition of B 4 C coating gave rise to a dense composite. The influence of B 4 C coating on both tensile strength and thermal conductivity of the composite were investigated. When the B 4 C fully covered on diamond particles, the composite exhibited a greatly increase in tensile strength (115 MPa) which was much higher than that for uncoated-diamond/Cu (60 MPa) composites. Meanwhile, a high thermal conductivity of 687 W/mK was achieved in the B 4 C-coated-diamond/Cu composites.

  9. The Role of Gut Microbiota in Obesity and Type 2 and Type 1 Diabetes Mellitus: New Insights into "Old" Diseases.

    Science.gov (United States)

    Harsch, Igor Alexander; Konturek, Peter Christopher

    2018-04-17

    The investigation of the human microbiome is the most rapidly expanding field in biomedicine. Early studies were undertaken to better understand the role of microbiota in carbohydrate digestion and utilization. These processes include polysaccharide degradation, glycan transport, glycolysis, and short-chain fatty acid production. Recent research has demonstrated that the intricate axis between gut microbiota and the host metabolism is much more complex. Gut microbiota—depending on their composition—have disease-promoting effects but can also possess protective properties. This review focuses on disorders of metabolic syndrome, with special regard to obesity as a prequel to type 2 diabetes, type 2 diabetes itself, and type 1 diabetes. In all these conditions, differences in the composition of the gut microbiota in comparison to healthy people have been reported. Mechanisms of the interaction between microbiota and host that have been characterized thus far include an increase in energy harvest, modulation of free fatty acids—especially butyrate—of bile acids, lipopolysaccharides, gamma-aminobutyric acid (GABA), an impact on toll-like receptors, the endocannabinoid system and “metabolic endotoxinemia” as well as “metabolic infection.” This review will also address the influence of already established therapies for metabolic syndrome and diabetes on the microbiota and the present state of attempts to alter the gut microbiota as a therapeutic strategy.

  10. Automatic classification of long-term ambulatory ECG records according to type of ischemic heart disease

    Directory of Open Access Journals (Sweden)

    Smrdel Aleš

    2011-12-01

    Full Text Available Abstract Background Elevated transient ischemic ST segment episodes in the ambulatory electrocardiographic (AECG records appear generally in patients with transmural ischemia (e. g. Prinzmetal's angina while depressed ischemic episodes appear in patients with subendocardial ischemia (e. g. unstable or stable angina. Huge amount of AECG data necessitates automatic methods for analysis. We present an algorithm which determines type of transient ischemic episodes in the leads of records (elevations/depressions and classifies AECG records according to type of ischemic heart disease (Prinzmetal's angina; coronary artery diseases excluding patients with Prinzmetal's angina; other heart diseases. Methods The algorithm was developed using 24-hour AECG records of the Long Term ST Database (LTST DB. The algorithm robustly generates ST segment level function in each AECG lead of the records, and tracks time varying non-ischemic ST segment changes such as slow drifts and axis shifts to construct the ST segment reference function. The ST segment reference function is then subtracted from the ST segment level function to obtain the ST segment deviation function. Using the third statistical moment of the histogram of the ST segment deviation function, the algorithm determines deflections of leads according to type of ischemic episodes present (elevations, depressions, and then classifies records according to type of ischemic heart disease. Results Using 74 records of the LTST DB (containing elevated or depressed ischemic episodes, mixed ischemic episodes, or no episodes, the algorithm correctly determined deflections of the majority of the leads of the records and correctly classified majority of the records with Prinzmetal's angina into the Prinzmetal's angina category (7 out of 8; majority of the records with other coronary artery diseases into the coronary artery diseases excluding patients with Prinzmetal's angina category (47 out of 55; and correctly

  11. Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

    Science.gov (United States)

    Kasturi, Kannan; Fernandes, Lucas; Quezado, Martha; Eid, Mary; Marcus, Leigh; Chittiboina, Prashant; Rappaport, Mark; Stratakis, Constantine A; Widemann, Brigitte; Lodish, Maya

    2017-06-01

    Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene. Following thyroidectomy, he was initiated on Vandetanib, a tyrosine kinase inhibitor, and has since had stable disease over the last 5 years. Our patient is the first individual with MEN2B to be described with Cushing disease. The RET oncogene may play a role in pituitary tumorigenesis; alternatively, the coexistence of these two entities may represent an extremely rare coincidence.

  12. Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C

    Directory of Open Access Journals (Sweden)

    Irina F. Fedoseeva

    2017-01-01

    Full Text Available A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the disease in the population, and the lack of a simple diagnostic test for mass screening. Isolated hepatosplenomegaly was revealed in the juvenile and late infantile form of Niemann-Pick disease type C. Neurological symptoms are manifested by a gradual decrease in cognitive function, gelastic cataplexy, epileptic seizures, and extrapyramidal disorders. The possibility of clarifying the diagnosis in the presented cases occurs from ages 4 – 7 due to the DNA diagnosis of NPC1 and NPC2 gene mutations.

  13. Prevalence of cardiovascular disease and evaluation of standard of care in type 2 diabetes

    DEFF Research Database (Denmark)

    Rungby, Jorgen; Schou, Morten; Warrer, Per

    2017-01-01

    Objective: Cardiovascular disease (CVD) complicates type 2 diabetes. Empagliflozin and liraglutide have demonstrated improved survival in patients with type 2 diabetes and established CVD. We assessed prevalence and standard of care of patients with type 2 diabetes and established CVD managed......-density lipoprotein cholesterol was 2.0 mmol/l. Conclusion: In a nationwide database survey in primary care, the prevalence of CVD in patients with type 2 diabetes was high (21.4%). Standard of care was largely in accordance with national guidelines. Identification of eligible patients is possible with existing...... electronic patient record systems. Identifying this high-risk subgroup of patients with type 2 diabetes and optimizing their treatment might add further cardiovascular benefits as suggested by recent cardiovascular outcome trials....

  14. Modification of pathological type A as worksite stress management and disease prevention intervention.

    Science.gov (United States)

    Zonierczyk-Zreda, D

    2000-01-01

    The importance of helping an employee to better cope with occupational stress as the aim of stress management interventions is presented. It particularly concerns the employees who have the poorest temperamental and personality potential for effective coping and should be the target of primary stress intervention and prevention. According to evidence, Type A workers are at risk of occupational stress and disease, especially when some personality features of Type A are accompanied by high reactivity. The concept of pathological Type A is introduced. The already existing programs of modifying Type A and the framework of a program based on the elements that have been established to be the most therapeutic for pathological Type A are presented.

  15. Chronic Kidney Disease and Associated Cardiovascular Risk Factors in Chinese with Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Qing-Lin Lou

    2012-12-01

    Full Text Available BackgroundTo determine the frequency of chronic kidney disease (CKD and its associated risk factors in Chinese type 2 diabetic patients, we conducted a cross-sectional study in Nanjing, China, in the period between January 2008 and December 2009.MethodsPatients with type 2 diabetes under the care by Jiangsu Province Official Hospital, Nanjing, China were invited for assessment. CKD was defined as the presence of albuminuria or estimated glomerular filtration rate <60 mL/min/1.73 m2. Albuminuria was defined as urinary albumin-to-creatinine ratio ≥30 mg/g.ResultsWe recruited 1,521 urban Chinese patients with type 2 diabetes (mean age, 63.9±12.0 years. The frequency of CKD and albuminuria was 31.0% and 28.9%, respectively. After adjusted by age and sex, hypertension, anemia and duration of diabetes were significantly associated with CKD with odds ratio (95% confidence interval being 1.93 (1.28 to 2.93, 1.70 (1.09 to 2.64, and 1.03 (1.00 to 1.06, respectively.ConclusionIn conclusion, CKD was common in the urban Nanjing Chinese with type 2 diabetes. Strategies to prevent or delay progression of kidney disease in diabetes should be carried out at the early disease course of type 2 diabetes.

  16. Type 2 Diabetes Mellitus and Cardiovascular Disease: Genetic and Epigenetic Links

    Directory of Open Access Journals (Sweden)

    Salvatore De Rosa

    2018-01-01

    Full Text Available Type 2 diabetes mellitus (DM is a common metabolic disorder predisposing to diabetic cardiomyopathy and atherosclerotic cardiovascular disease (CVD, which could lead to heart failure through a variety of mechanisms, including myocardial infarction and chronic pressure overload. Pathogenetic mechanisms, mainly linked to hyperglycemia and chronic sustained hyperinsulinemia, include changes in metabolic profiles, intracellular signaling pathways, energy production, redox status, increased susceptibility to ischemia, and extracellular matrix remodeling. The close relationship between type 2 DM and CVD has led to the common soil hypothesis, postulating that both conditions share common genetic and environmental factors influencing this association. However, although the common risk factors of both CVD and type 2 DM, such as obesity, insulin resistance, dyslipidemia, inflammation, and thrombophilia, can be identified in the majority of affected patients, less is known about how these factors influence both conditions, so that efforts are still needed for a more comprehensive understanding of this relationship. The genetic, epigenetic, and environmental backgrounds of both type 2 DM and CVD have been more recently studied and updated. However, the underlying pathogenetic mechanisms have seldom been investigated within the broader shared background, but rather studied in the specific context of type 2 DM or CVD, separately. As the precise pathophysiological links between type 2 DM and CVD are not entirely understood and many aspects still require elucidation, an integrated description of the genetic, epigenetic, and environmental influences involved in the concomitant development of both diseases is of paramount importance to shed new light on the interlinks between type 2 DM and CVD. This review addresses the current knowledge of overlapping genetic and epigenetic aspects in type 2 DM and CVD, including microRNAs and long non-coding RNAs, whose

  17. Episodes of breathlessness: types and patterns - a qualitative study exploring experiences of patients with advanced diseases.

    Science.gov (United States)

    Simon, Steffen T; Higginson, Irene J; Benalia, Hamid; Gysels, Marjolein; Murtagh, Fliss Em; Spicer, James; Bausewein, Claudia

    2013-06-01

    Despite the high prevalence and impact of episodic breathlessness, information about characteristics and patterns is scarce. To explore the experience of patients with advanced disease suffering from episodic breathlessness, in order to describe types and patterns. Qualitative design using in-depth interviews with patients suffering from advanced stages of chronic heart failure, chronic obstructive pulmonary disease, lung cancer or motor neurone disease. As part of the interviews, patients were asked to draw a graph to illustrate typical patterns of breathlessness episodes. Interviews were tape-recorded, transcribed verbatim and analysed using Framework Analysis. The graphs were grouped according to their patterns. Fifty-one participants (15 chronic heart failure, 14 chronic obstructive pulmonary disease, 13 lung cancer and 9 motor neurone disease) were included (mean age 68.2 years, 30 of 51 men, mean Karnofsky 63.1, mean breathlessness intensity 3.2 of 10). Five different types of episodic breathlessness were described: triggered with normal level of breathlessness, triggered with predictable response (always related to trigger level, e.g. slight exertion causes severe breathlessness), triggered with unpredictable response (not related to trigger level), non-triggered attack-like (quick onset, often severe) and wave-like (triggered or non-triggered, gradual onset). Four patterns of episodic breathlessness could be identified based on the graphs with differences regarding onset and recovery of episodes. These did not correspond with the types of breathlessness described before. Patients with advanced disease experience clearly distinguishable types and patterns of episodic breathlessness. The understanding of these will help clinicians to tailor specific management strategies for patients who suffer from episodes of breathlessness.

  18. Prevalence of systolic and diastolic dysfunction in patients with type 1 diabetes without known heart disease

    DEFF Research Database (Denmark)

    Jensen, Magnus T; Sogaard, Peter; Andersen, Henrik U

    2014-01-01

    AIMS/HYPOTHESIS: Heart failure is one of the leading causes of mortality in type 1 diabetes. Early identification is vitally important. We sought to determine the prevalence and clinical characteristics associated with subclinical impaired systolic and diastolic function in type 1 diabetes patients...... without known heart disease. METHODS: In this cross-sectional examination of 1,093 type 1 diabetes patients without known heart disease, randomly selected from the Steno Diabetes Center, complete clinical and echocardiographic examinations were performed and analysed in uni- and multivariable regression...... models. RESULTS: The mean (SD) age was 49.6 (15) years, 53% of participants were men, and the mean duration of diabetes was 25.5 (15) years. Overall, 15.5% (n = 169) of participants had grossly abnormal systolic or diastolic function, including 1.7% with left ventricular ejection fraction (LVEF) 

  19. The independent effect of type 2 diabetes mellitus on ischemic heart disease, stroke, and death

    DEFF Research Database (Denmark)

    Almdal, Thomas; Scharling, Henrik; Jensen, Jan Skov

    2004-01-01

    BACKGROUND: Epidemiological studies have reported that patients with type 2 diabetes mellitus (DM) have increased mortality and morbidity from cardiovascular diseases, independent of other risk factors. However, most of these studies have been performed in selected patient groups. The purpose...... of the present study was prospectively to assess the impact of type 2 DM on cardiovascular morbidity and mortality in an unselected population. METHODS: A total of 13,105 subjects from the Copenhagen City Heart Study were followed up prospectively for 20 years. Adjusted relative risks of first, incident......, admission for, or death from ischemic heart disease, acute myocardial infarction, or stroke, as well as total mortality in persons with type 2 DM compared with healthy controls, were estimated. RESULTS: The relative risk of first, incident, and admission for myocardial infarction was increased 1.5- to 4...

  20. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    DEFF Research Database (Denmark)

    Scarpa, Maurizio; Almássy, Zsuzsanna; Beck, Michael

    2011-01-01

    Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs...... and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years......, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require...

  1. [New mutation in a young woman diagnosed with Niemann-Pick disease type C].

    Science.gov (United States)

    Lario, Ana; de Miguel, Carlos; Ojeda, Emilio; Gil, Santiago; Coll, María J; Alfonso, Pilar

    2016-06-03

    To describe a new molecular variant of Niemann-Pick disease type C (NPC) in a 27 year-old patient with splenomegaly and abolition of osteotendinous reflexes. NPC1 is the main gene with described mutation in NPC disease. Here we report a case with a new mutation, p.N916S, not described before in a patient diagnosed with NPC. p.N916S was described as a cause of NPC disease by predictive programmes Mutation Master, PolyPhen2 and SIFT. p.N916S is a new mutation detected as a cause of NPC disease in a patient without severe neurological symptoms. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  2. Incidence of invasive Haemophilus influenzae type b disease in Italian children

    International Nuclear Information System (INIS)

    Tozzi, Alberto E.; Salmaso, Stefania; Atti, Marta L. Ciofi degli; Panei, Pietro; Anemona, Alessandra; Scuderi, Gabriella; Wassilak, Steven G.F.

    1997-01-01

    To estimate the incidence of Haemophilus influenzae type b (Hib) invasive disease in Italian infants we performed a prospective study in a cohort of newborns enrolled for a randomized trial on safety and efficacy of three pertussis vaccines and followed for onset of serious disease or pertussis. The overall cumulative incidence observed in 15,601 children was 51.3/100,000 for all invasive Hib infections and 38.4/100,000 for Hib meningitis, over 27 months of observation. The incidence density of all invasive Hib diseases was 28.7/100,000 person-years, while meningitis occurred with an incidence of 21.5/100,000 person-years. Among the eight cases detected, six were meningitis, one sepsis, and one cellulitis. The child with sepsis died. The incidence and epidemiology of invasive Hib disease in Italy are comparable to those reported from other European countries. Cost-benefit analyses are needed for planning Italian vaccination policy

  3. Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

    Directory of Open Access Journals (Sweden)

    Yonatan Oster

    2016-01-01

    Full Text Available A 17-year-old patient with GSD type 1a (von Gierke disease was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6.8 and bicarbonate of 4 meq/L. The patient was stabilized with massive infusions of sodium bicarbonate (45 meq/h and glucose and recovered without the need for dialysis. This patient illustrates pathophysiologic mechanisms involved in the development of extreme mixed type A and type B lactic acidemia, reflecting altered metabolic pathways in GSD type 1, combined with tissue hypoperfusion. The rationale for the specific interventions in this case is outlined.

  4. Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.

    Science.gov (United States)

    Oster, Yonatan; Wexler, Isaiah D; Heyman, Samuel N; Fried, Elchanan

    2016-01-01

    A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6.8 and bicarbonate of 4 meq/L. The patient was stabilized with massive infusions of sodium bicarbonate (45 meq/h) and glucose and recovered without the need for dialysis. This patient illustrates pathophysiologic mechanisms involved in the development of extreme mixed type A and type B lactic acidemia, reflecting altered metabolic pathways in GSD type 1, combined with tissue hypoperfusion. The rationale for the specific interventions in this case is outlined.

  5. A Novel Type 2 Diabetes Mouse Model of Combined Diabetic Kidney Disease and Atherosclerosis.

    Science.gov (United States)

    Bornfeldt, Karin E; Kramer, Farah; Batorsky, Anna; Choi, Jinkuk; Hudkins, Kelly L; Tontonoz, Peter; Alpers, Charles E; Kanter, Jenny E

    2018-02-01

    Diabetic kidney disease and atherosclerotic disease are major causes of morbidity and mortality associated with type 2 diabetes (T2D), and diabetic kidney disease is a major cardiovascular risk factor. The black and tan, brachyury (BTBR) mouse strain with leptin deficiency (Lep ob ) has emerged as one of the best models of human diabetic kidney disease. However, no T2D mouse model of combined diabetic kidney disease and atherosclerosis exists. Our goal was to generate such a model. To this end, the low-density lipoprotein (LDL) receptor was targeted for degradation via inducible degrader of the LDL receptor (IDOL) overexpression, using liver-targeted adenoassociated virus serotype DJ/8 (AAV-DJ/8) in BTBR wild-type and BTBR Lep ob mice. Liver-targeted IDOL-AAV-DJ/8 increased plasma LDL cholesterol compared with the control enhanced green fluorescent protein AAV-DJ/8. IDOL-induced dyslipidemia caused formation of atherosclerotic lesions of an intermediate stage, which contained both macrophages and smooth muscle cells. BTBR Lep ob mice exhibited diabetic kidney disease. IDOL-induced dyslipidemia worsened albuminuria and glomerular macrophage accumulation but had no effect on mesangial expansion or podocyte numbers. Thus, by inducing hepatic degradation of the LDL receptor, we generated a T2D model of combined kidney disease and atherosclerosis. This model provides a new tool to study mechanisms, interactions, and treatment strategies of kidney disease and atherosclerosis in T2D. Copyright © 2018 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  6. Real forms of complex quantum anti-de-Sitter algebra Uq(Sp(4;C)) and their contraction schemes

    International Nuclear Information System (INIS)

    Lukierski, J.; Nowicki, A.; Ruegg, H.

    1991-01-01

    We describe four types of inner involutions of the Cartan-Weyl basis providing (for vertical strokeqvertical stroke=1 and q real) three types of real quantum Lie algebras: U q (O(3, 2)) (quantum D=4 anti-de-Sitter), U q (O(4, 1)) (quantum D=4 de-Sitter) and U q (O(5)). We give also two types of inner involutions of the Cartan-Chevalley basis of U q (Sp(4; C)) which cannot be extended to inner involutions of the Cartan-Weyl basis. We outline twelve contraction schemes for quantum D=4 anti-de-Sitter algebra. All these contractions provide four commuting translation generators, but only two (one for vertical strokeqvertical stroke=1, the second for q real) lead to the quantum Poincare algebra with an undeformed space rotation O(3) subalgebra. (orig.)

  7. A study of type and intensity of disease infecting banana plants Musa sp at Tegalagung village Semanding subdistrict

    OpenAIRE

    Supiana Dian Nurtjahyani; Devi Shyntya Agustin

    2014-01-01

    Diseases affecting banana plants are very detrimental to farmers as these can lower production and economic income. The purpose of this study was to determine the type and intensity of the disease affecting banana plants. This research was an observational analytic study that observe and analyze condition or symptoms of diseases affecting banana plants in Tegalagung village, Semanding subdistrict, Tuban as many as 38 samples. Parameters observed were type of disease and measure intensity of t...

  8. Periodontal disease and type I diabetes mellitus: Associations with glycemic control and complications.

    Science.gov (United States)

    Meenawat, Ajita; Punn, Karan; Srivastava, Vivek; Meenawat, Anand S; Dolas, R S; Govila, Vivek

    2013-09-01

    The aim of the study was to evaluate periodontal health status in patients diagnosed with type 1 diabetes mellitus (DM1) and to establish a correlation between metabolic control and periodontal health status. Periodontal health parameters namely plaque index (PI), gingival index (GI), probing pocket depth (PPD) and clinical attachment loss (CAL) were recorded in 28 patients diagnosed with type 1 diabetes mellitus (DM1) and 20 healthy controls. Diabetes history was recorded based on the information provided by the physician and it included date of diagnosis, duration, age of diagnosis, latest values of glycosylated haemoglobin and existing diabetic complications. Statistical analysis was performed to evaluate the relationship between periodontal parameters and degree of metabolic control, the duration of the disease and the appearance of complications. The periodontal health in the diabetic group was compromised and they had greater bleeding index (P diabetes for shorter duration of time (4-7 years) showed bleeding index-disease severity correlation to be 1.760 ± 0.434. Periodontal disease was more evident in type 1 diabetes mellitus patients and periodontal inflammation is greatly increased in subjects with longer disease course, poor metabolic control and diabetic complications.

  9. McArdle disease does not affect skeletal muscle fibre type profiles in humans

    Directory of Open Access Journals (Sweden)

    Tertius Abraham Kohn

    2014-11-01

    Full Text Available Patients suffering from glycogen storage disease V (McArdle disease were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre recruitment. To explain this phenomenon, this study investigated whether muscle fibre type is shifted towards a predominance in type I fibres as a consequence of the disease. Muscle biopsies from the Biceps brachii (BB (n = 9 or Vastus lateralis (VL (n = 8 were collected over a 13-year period from male and female patients diagnosed with McArdle disease, analysed for myosin heavy chain (MHC isoform content using SDS-PAGE, and compared to healthy controls (BB: n = 3; VL: n = 10. All three isoforms were expressed and no difference in isoform expression in VL was found between the McArdle patients and healthy controls (MHC I: 33±19% vs. 43±7%; MHC IIa: 52±9% vs. 40±7%; MHC IIx: 15±18% vs. 17±9%. Similarly, the BB isoform content was also not different between the two groups (MHC I: 33±14% vs. 30±11%; MHC IIa: 46±17% vs. 39±5%; MHC IIx: 21±13% vs. 31±14%. In conclusion, fibre type distribution does not seem to explain the higher surface EMG in McArdle patients. Future studies need to investigate muscle fibre size and contractility of McArdle patients.

  10. Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease

    Directory of Open Access Journals (Sweden)

    Bennett LL

    2015-08-01

    Full Text Available Lunawati L Bennett, Kelsey TurcotteSchool of Pharmacy, Union University, Jackson, TN, USA Abstract: The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1. GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte-macrophage system that affects the body by causing enlargement of the spleen and liver, destruction of bone, and abnormalities of the lungs and blood, such as anemia, thrombocytopenia, and leukopenia. GD is classified into three types: GD1, a chronic and non-neuronopathic disease accounting for 95% of GD cases; and types 2 and 3 (GD2 GD3 which are more progressive diseases with no approved drugs available at this time. Treatment options for GD1 include enzyme replacement therapy and substrate reduction therapy. Eliglustat works by inhibiting UDP-glucosylceramide synthase, the first enzyme that catalyzes the biosynthesis of glycosphingolipids, thus reducing the load of glucosylceramide influx into the lysosome. Eliglustat was approved by the US Food and Drug Administration after three Phase I, two Phase II, and two Phase III clinical trials. The dose of eliglustat is 84 mg twice a day or once daily depending on the cytochrome P450 2D6 genotype of the patient. Keywords: Gaucher disease, glucocerebrosidase, glucosylceramide synthase, eliglustat tartrate, substrate reduction therapy

  11. Effect of blood type on anti-α-Gal immunity and the incidence of infectious diseases.

    Science.gov (United States)

    Cabezas-Cruz, Alejandro; Mateos-Hernández, Lourdes; Alberdi, Pilar; Villar, Margarita; Riveau, Gilles; Hermann, Emmanuel; Schacht, Anne-Marie; Khalife, Jamal; Correia-Neves, Margarida; Gortazar, Christian; de la Fuente, José

    2017-03-10

    The identification of factors affecting the susceptibility to infectious diseases is essential toward reducing their burden on the human population. The ABO blood type correlates with susceptibility to malaria and other infectious diseases. Due to the structural similarity between blood antigen B and Galα1-3Galβ1-(3)4GlcNAc-R (α-Gal), we hypothesized that self-tolerance to antigen B affects the immune response to α-Gal, which in turn affects the susceptibility to infectious diseases caused by pathogens carrying α-Gal on their surface. Here we found that the incidence of malaria and tuberculosis, caused by pathogens with α-Gal on their surface, positively correlates with the frequency of blood type B in endemic regions. However, the incidence of dengue fever, caused by a pathogen without α-Gal, was not related to the frequency of blood type B in these populations. Furthermore, the incidence of malaria and tuberculosis was negatively correlated with the anti-α-Gal antibody protective response. These results have implications for disease control and prevention.

  12. Periodontal disease and type I diabetes mellitus: Associations with glycemic control and complications

    Directory of Open Access Journals (Sweden)

    Ajita Meenawat

    2013-01-01

    Full Text Available Objective: The aim of the study was to evaluate periodontal health status in patients diagnosed with type 1 diabetes mellitus (DM1 and to establish a correlation between metabolic control and periodontal health status. Materials and Methods: Periodontal health parameters namely plaque index (PI, gingival index (GI, probing pocket depth (PPD and clinical attachment loss (CAL were recorded in 28 patients diagnosed with type 1 diabetes mellitus (DM1 and 20 healthy controls. Diabetes history was recorded based on the information provided by the physician and it included date of diagnosis, duration, age of diagnosis, latest values of glycosylated haemoglobin and existing diabetic complications. Statistical analysis was performed to evaluate the relationship between periodontal parameters and degree of metabolic control, the duration of the disease and the appearance of complications. Results: The periodontal health in the diabetic group was compromised and they had greater bleeding index (P < 0.001, probing pocket depth (P < 0.001 and clinical attachment level (P = 0.001. Patients diagnosed for diabetes for shorter duration of time (4-7 years showed bleeding index-disease severity correlation to be 1.760 ΁ 0.434. Conclusion: Periodontal disease was more evident in type 1 diabetes mellitus patients and periodontal inflammation is greatly increased in subjects with longer disease course, poor metabolic control and diabetic complications.

  13. Relationship between Type 2 Diabetic Retinopathy and Periodontal Disease in Iranian Adults

    Science.gov (United States)

    Amiri, Ahmad Ahmadzadeh; Maboudi, Avideh; Bahar, Adele; Farokhfar, Asadollah; Daneshvar, Fatemeh; Khoshgoeian, Hamid Reza; Nasohi, Mehdi; Khalilian, Alireza

    2014-01-01

    Background: Periodontal disease in diabetic patients can compromise a patient's ability to maintain a proper metabolic control and may be associated with diabetic complication. Aims: This study was designed to evaluate the frequency of periodontal disease in patients with type 2 diabetes mellitus (DM) and how this was related with the presence of diabetic retinopathy (DR). Materials and Methods: A comparison was made of periodontal parameters (plaque index (PI), community periodontal index of treatment needs (CPITN), periodontal disease severity measured in quartiles of probing depth (PD), and clinical attachment loss (CAL)) in a group of diabetic patients with retinopathy (n = 84) versus a group of diabetic patients without retinopathy (n = 129). In addition, 73 age- and sex-matched individuals were selected to serve as the control group. Analysis was performed to evaluate the relationships between periodontal disease and DR. Results: In terms of PI, no statistically significant differences were observed, so, oral hygiene was similar in both groups. Diabetic patients with retinopathy had greater CPITN (P periodontal disease (P periodontal disease. Conclusions: The patients with diabetes retinopathy appear to show increased periodontal disease susceptibility. PMID:24741553

  14. Opa typing of Neisseria gonorrhoeae strains isolated from patients attending sexually transmitted disease clinics in China.

    Science.gov (United States)

    Chen, Qiang; Yin, Yue-Ping; Dai, Xiu-Qin; Yu, Yan-Hua; Wang, Hong-Chun; Zhu, Bang-Yong; Gao, Xing; Chen, Xiang-Sheng

    2007-12-01

    Gonorrhoea has been one of the most common sexually transmitted diseases (STDs) in China. A clear understanding of its transmission dynamics is important in formulating prevention and control measures. To investigate the distribution of opa types in patients attending at STD clinics in China and to evaluate the concordance between epidemiologic data and opa-typing results. Opa typing was conducted for 330 Neisseria gonorrhoeae strains isolated from the patients at 4 STDs clinics in China, and the epidemiologic data were collected as well. A total of 309 opa types were detected from the 330 isolates. Two hundred ninety-two opa types were unique, and 17 opa types were found in more than 1 patient. Opa typing confirmed all 9 sexual links that were revealed by epidemiologic information and further identified 9 opa clusters and 8 similar pairs. Opa typing is a discriminatory tool that can be used in epidemiologic studies on gonococcal infections. This technique is more powerful than epidemiologic data to identify sexual links and improve our understanding of the transmission dynamics of gonorrhoea.

  15. [Frequency of chronic kidney disease among ambulatory patients with type 2 diabetes].

    Science.gov (United States)

    Villarroel R, Pablo; Parra L, Ximena; Ardiles A, Leopoldo

    2012-03-01

    Type 2 diabetes mellitus is the main cause of chronic kidney disease in developed countries. To study the prevalence of chronic kidney disease among adults with diabetes mellitus attended at a public primary health care clinic in southern Chile. One hundred patients with type 2 diabetes mellitus, aged more than 15 years participated in this cross sectional study. Chronic kidney disease was defined as the presence of a urine albumin/creatinine ratio over 30 mg/g or an estimated glomerular filtration rate of less than 60 mL/min/1,73 m², detected in at least two opportunities, separated at least by three months. Thirty four percent of participants had chronic kidney disease (17% stage 1 or 2 and 17% stage 3). Thirty percent of participants had an abnormal urinary albumin/creatinine ratio. Halfof the patients with an estimated glomerular filtration rate below 60 mL/min/1,73 m², had a normal urinary albumin/creatinine ratio. The rates of chronic kidney disease in this group of diabetic patients are very similar to those reported elsewhere.

  16. Relationships between Diet, Alcohol Preference, and Heart Disease and Type 2 Diabetes among Americans.

    Directory of Open Access Journals (Sweden)

    Michael K Adjemian

    Full Text Available Although excessive alcohol consumption is a recognized cause of morbidity and mortality, many studies have linked moderate alcohol consumption to improved cardiovascular health and a lower risk of Type 2 Diabetes (T2D. Self-reported alcohol and diet data used to generate these results suffer from measurement error due to recall bias. We estimate the effects of diet, alcohol, and lifestyle choices on the prevalence and incidence of cardiovascular disease and T2D among U.S. adults using a nationally representative cohort of households with scanner data representing their food-at-home, alcohol, and tobacco purchases from 2007-2010, and self-reported health surveys for the same study participants from 2010-2012. Multivariate regression models were used to identify significant associations among purchase data and lifestyle/demographic factors with disease prevalence in 2010, and with incidence of new disease from 2011-2012. After controlling for important confounders, respondents who purchased moderate levels of wine were 25% less likely than non-drinkers to report heart disease in 2010. However, no alcohol-related expenditure variables significantly affected the likelihood of reporting incident heart disease from 2011-2012. In contrast, many types of alcohol-related purchases were associated with a lower prevalence of T2D, and respondents who purchased the greatest volumes of wine or beer--but not liquor--were less likely to report being diagnosed with T2D in 2011-2012 than non-drinkers.

  17. Gender difference in albuminuria and ischemic heart disease in type 2 diabetes.

    Science.gov (United States)

    Nakhjavani, Manouchehr; Morteza, Afsaneh; Jenab, Yaser; Ghaneei, Azam; Esteghamati, Alireza; Karimi, Maryam; Farokhian, Alireza

    2012-05-01

    The value of urinary albumin excretion in the prediction of myocardial ischemia in men and women with type 2 diabetes is not well understood. We questioned whether gender influences the albuminuria-ischemic heart disease relationship in patients with type 2 diabetes. We designed a matched case-control study of 926 patients with albuminuria (cases) and 926 age and body mass index matched patients without albuminuria (controls). Ischemic heart disease was defined as the presence of (1) history of angina pectoris or angina equivalent symptoms and critical care unit admission, (2) myocardial infarction and/or electrocardiographic evidence of Q-wave myocardial infarction, (3) coronary revascularization and/or stenting, (4) positive myocardial single-photon emission computed tomography scan, (5) ischemic ST-segment or T-wave changes, and (6) positive stress testing. Patients with albuminuria had a lower glomerular filtration rate and a longer diabetes duration than patients without albuminuria. In the group of cases, there were a greater number of men with ischemic heart disease (120 of 370; 32.4%) compared to women (97 of 559; 17.4%) (Pischemic heart disease according to the presence or absence of albuminuria was 1.25 [95% CI: 1.01-1.56] (Pischemic heart disease compared to women. This may be related to the role of high-density lipoprotein on the albuminuria-gender relationship.

  18. Prognostic clinical and molecular biomarkers of renal disease in type 2 diabetes

    DEFF Research Database (Denmark)

    Pena, Michelle J; de Zeeuw, Dick; Mischak, Harald

    2015-01-01

    Diabetic kidney disease occurs in ∼ 25-40% of patients with type 2 diabetes. Given the high risk of progressive renal function loss and end-stage renal disease, early identification of patients with a renal risk is important. Novel biomarkers may aid in improving renal risk stratification. In thi...... but also our understanding of the mechanisms of actions of existing and novel drugs and may yield biomarkers that can be used to monitor drug response. We conclude that this will be an area to focus research on in the future.......Diabetic kidney disease occurs in ∼ 25-40% of patients with type 2 diabetes. Given the high risk of progressive renal function loss and end-stage renal disease, early identification of patients with a renal risk is important. Novel biomarkers may aid in improving renal risk stratification....... In this review, we first focus on the classical panel of albuminuria and estimated glomerular filtration rate as the primary clinical predictors of renal disease and then move our attention to novel biomarkers, primarily concentrating on assay-based multiple/panel biomarkers, proteomics biomarkers...

  19. Proteomic Analysis of Disease Stratified Human Pancreas Tissue Indicates Unique Signature of Type 1 Diabetes.

    Directory of Open Access Journals (Sweden)

    Tanya C Burch

    Full Text Available Type 1 diabetes (T1D and type 2 diabetes (T2D are associated with functional beta cell loss due to ongoing inflammation. Despite shared similarities, T1D is an autoimmune disease with evidence of autoantibody production, as well as a role for exocrine pancreas involvement. Our hypothesis is that differential protein expression occurs in disease stratified pancreas tissues and regulated proteins from endocrine and exocrine tissues are potential markers of disease and potential therapeutic targets. The study objective was to identify novel proteins that distinguish the pancreas from donors with T1D from the pancreas from patients with T2D, or autoantibody positive non-diabetic donors. Detailed quantitative comprehensive proteomic analysis was applied to snap frozen human pancreatic tissue lysates from organ donors without diabetes, with T1D-associated autoantibodies in the absence of diabetes, with T1D, or with T2D. These disease-stratified human pancreas tissues contain exocrine and endocrine tissues (with dysfunctional islets in the same microenvironment. The expression profiles of several of the proteins were further verified by western blot. We identified protein panels that are significantly and uniquely upregulated in the three disease-stratified pancreas tissues compared to non-disease control tissues. These proteins are involved in inflammation, metabolic regulation, and autoimmunity, all of which are pathways linked to, and likely involved in, T1 and T2 diabetes pathogenesis. Several new proteins were differentially upregulated in prediabetic, T1D, and T2D pancreas. The results identify proteins that could serve as novel prognostic, diagnostic, and therapeutic tools to preserve functional islet mass in Type 1 Diabetes.

  20. Observational study of the association of first insulin type in uncontrolled type 2 diabetes with macrovascular and microvascular disease.

    Directory of Open Access Journals (Sweden)

    Gillian C Hall

    Full Text Available To compare the risk of vascular disease, HbA1c and weight change, between first prescribed insulins in people with type 2 diabetes.People included in THIN United Kingdom primary care record database who began insulin (2000-2007 after poor control on oral glucose-lowering agents (OGLD were grouped by the number of OGLDs in their treatment regimen immediately before starting insulin (n = 3,485. Within OGLD group, Cox regression compared macrovascular (all-cause mortality, myocardial infarction, acute coronary syndrome and stroke and microvascular disease (peripheral neuropathy, nephropathy, and retinopathy between insulin type (basal, pre-mix or Neutral Protamine Hagedorn, NPH while ANCOVAs compared haemoglobin A(1c (HbA(1c and weight change.Mean follow-up was 3.6 years. Rates of incident macrovascular events were similar when basal insulin was compared to pre-mix or NPH, adjusted hazard ratio versus basal: pre-mix 1.08 (95% CI 0.73, 1.59; NPH 1.00 (0.63, 1.58 after two OGLDs, and pre-mix 0.97 (0.46, 2.02; NPH 0.77 (0.32, 1.86 after three OGLDs. An increased risk of microvascular disease in NPH versus basal after 3 OGLDs, adjusted hazard ratio 1.87 (1.04, 3.36, was not seen after two agents or in comparisons of basal and pre-mix. At one year, after two OGLDs, weight increase was less with basal compared with pre-mix. After three OGLDs, mean HbA(1c had reduced less in basal versus pre-mix or NPH at 6-8 and at 9-11 months, and versus pre-mix at 12-14 months.We found no difference in the risk of macrovascular events between first insulins in the medium term when started during poor glycaemia control. The increased risk of microvascular events with NPH warrants further study. In certain groups, first use of basal insulin was associated with less gain in weight and decrease in HbA(1c compared to other insulins.

  1. Evaluation of central nervous system in patients with glycogen storage disease type 1a.

    Science.gov (United States)

    Aydemir, Yusuf; Gürakan, Figen; Saltık Temizel, İnci Nur; Demir, Hülya; Oğuz, Kader Karlı; Yalnızoğlu, Dilek; Topçu, Meral; Özen, Hasan; Yüce, Aysel

    2016-01-01

    We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities. Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a.

  2. Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor?

    Science.gov (United States)

    Hooshiar Kashani, Baharak; Perego, Ugo A; Olivieri, Anna; Angerhofer, Norman; Gandini, Francesca; Carossa, Valeria; Lancioni, Hovirag; Semino, Ornella; Woodward, Scott R; Achilli, Alessandro; Torroni, Antonio

    2012-01-01

    Recent analyses of mitochondrial genomes from Native Americans have brought the overall number of recognized maternal founding lineages from just four to a current count of 15. However, because of their relative low frequency, almost nothing is known for some of these lineages. This leaves a considerable void in understanding the events that led to the colonization of the Americas following the Last Glacial Maximum (LGM). In this study, we identified and completely sequenced 14 mitochondrial DNAs belonging to one extremely rare Native American lineage known as haplogroup C4c. Its age and geographical distribution raise the possibility that C4c marked the Paleo-Indian group(s) that entered North America from Beringia through the ice-free corridor between the Laurentide and Cordilleran ice sheets. The similarities in ages andgeographical distributions for C4c and the previously analyzed X2a lineage provide support to the scenario of a dual origin for Paleo-Indians. Taking into account that C4c is deeply rooted in the Asian portion of the mtDNA phylogeny and is indubitably of Asian origin, the finding that C4c and X2a are characterized by parallel genetic histories definitively dismisses the controversial hypothesis of an Atlantic glacial entry route into North America. Copyright © 2011 Wiley Periodicals, Inc.

  3. Collaborative Occupational Therapy: Teachers' Impressions of the Partnering for Change (P4C) Model.

    Science.gov (United States)

    Wilson, A L; Harris, S R

    2018-05-01

    Occupational therapists (OTs) often face barriers when trying to collaborate with teachers in school-based settings. Partnering for change (P4C), a collaborative practice model designed to support children with developmental coordination disorder, could potentially support all students with special needs. Therefore, the aim of this study was to explore how teachers experience OT services delivered using the P4C model to support children with a variety of special needs. P4C was implemented at one elementary school in Courtenay, British Columbia. Eleven teachers participated in two focus groups and a one-on-one interview to gather descriptive, qualitative data. Grounded theory techniques were used for data analysis. Four themes (collaborating in the thick of it all, learning and taking risks, managing limited time and resources, and appreciating responsive OT support) represented teachers' experiences of P4C. Teachers strongly preferred collaborative OT services based on the P4C model. Students with a variety of special needs were supported within their classrooms as teachers learned new strategies from the OT and found ways to embed these strategies into their daily routines.

  4. Tribomechanical behavior of B{sub 4}C{sub p} reinforced Al 359 composites

    Energy Technology Data Exchange (ETDEWEB)

    Ramasamy, Deivasigamani; Rathanasamy, Rajasekar [Kongu Engineering College, Tamil Nadu (India). Dept. of Mechanical Engineering; Subramanian, Mohan Kumar; Kaliyannan, Gobinath Velu [PAAVAI Engineering College, Tamil Nadu (India). Dept. of Mechatronics Engineering; Palaniappan, Sathish Kumar [Indian Institute of Technology, Kharagpur, West Bengal (India); Durairaj, Jayanth

    2017-03-01

    n the present investigation, the influence of B{sub 4}C{sub p} particles on the mechanical and tribological behavior of Al 359 composites has been studied. B{sub 4}C{sub p} particle reinforced Al 359 composite samples were prepared by stir casting process. Hardness, tensile strength and wear behavior of the composites were studied and compared with a control specimen. Hardness of B{sub 4}C{sub p} particles reinforced Al 359 matrix increases compared to base matrix due to the presence of the ceramic phase. Coefficient of friction considerably increases with up to 20 wt.-% addition of B{sub 4}C{sub p} in base matrix. Specimens were subjected to wear tests under different load conditions and the following five different wear mechanisms such as wear groove, abrasion, delamination, oxidation and plastic deformation were evaluated. The abrasion results prove the increase in wear resistance of B{sub 4}C{sub p} reinforced composites compared to a control specimen.

  5. Wetting of B4C, TiC and graphite substrates by molten Mg

    International Nuclear Information System (INIS)

    Zhang Dan; Shen Ping; Shi Laixin; Jiang Qichuan

    2011-01-01

    Highlights: → The wettability of TiC, B4C and C by molten Mg was determined using an improved sessile drop method. → A new method to evaluate the wetting behavior coupled with evaporation and reaction was proposed. → The bonding characteristics in the Mg/B4C, Mg/TiC and Mg/graphite systems were evaluated. - Abstract: The isotherm wetting of B 4 C, TiC and graphite substrates by molten Mg was studied in a flowing Ar atmosphere at 973-1173 K using an improved sessile drop method. The initial contact angles are in the ranges of 95-87 deg., 74-60 deg. and 142-124 deg., respectively, moderately depending on the temperature. All the systems are non-reactive in nature; however, the presence of impurity of free boron at the B 4 C surface gave rise to the chemical reaction with molten Mg and thus promoted the wettability to a certain degree. A new method was proposed to evaluate the wetting behavior coupled with evaporation and chemical reaction. Furthermore, based on the comparison of the work of adhesion and cohesion, the bonding in the Mg/B 4 C and Mg/TiC systems is presumably mainly chemical while that in the Mg/graphite system is physical.

  6. Niemann- Pick disease type B. Study of theree cases and literature revision

    Directory of Open Access Journals (Sweden)

    Zarco Román Jorge

    2014-07-01

    Conclusions: This study shows the multisystemic involvement and the clinic variability in the type B Niemann-Pick disease, which is characterized es- sentially by hepatosplenomegaly with the possibility of development of liver dysfunction. Patients have a progressive hypersplenism. They present an athero- genic lipid profile. A gradual pulmonary affection, and other systemic manifestations are observed. The diagnosis confirmation, requires the determination of acid sphyngomyelinase. To date, there are no useful biomarkers to evaluate the disease activity. Enzyme replacement therapy is still on research.

  7. Effect of blood type on anti-?-Gal immunity and the incidence of infectious diseases

    OpenAIRE

    Cabezas-Cruz, Alejandro; Mateos-Hern?ndez, Lourdes; Alberdi, Pilar; Villar, Margarita; Riveau, Gilles; Hermann, Emmanuel; Schacht, Anne-Marie; Khalife, Jamal; Correia-Neves, Margarida; Gortazar, Christian; de la Fuente, Jos?

    2017-01-01

    The identification of factors affecting the susceptibility to infectious diseases is essential toward reducing their burden on the human population. The ABO blood type correlates with susceptibility to malaria and other infectious diseases. Due to the structural similarity between blood antigen B and Gal alpha 1-3Gal beta 1-(3)4GlcNAc-R (alpha-Gal), we hypothesized that self-tolerance to antigen B affects the immune response to alpha-Gal, which in turn affects the susceptibility to infectious...

  8. A rare case of hyaline-type Castleman disease in the liver.

    Science.gov (United States)

    Miyoshi, Hisaaki; Mimura, Shima; Nomura, Takako; Tani, Joji; Morishita, Asahiro; Kobara, Hideki; Mori, Hirohito; Yoneyama, Hirohito; Deguchi, Akihiro; Himoto, Takashi; Yamamoto, Naoki; Okano, Keiichi; Suzuki, Yasuyuki; Masaki, Tsutomu

    2013-07-27

    Castleman disease often develops in the neck, mediastinum and pulmonary hilum. Its onset in the peritoneal cavity is very rare. The patient, a woman in her 70s, was referred to our department for a detailed examination of an abdominal mass. On abdominal ultrasonography, computed tomography scan, magnetic resonance imaging and positron emission tomography, a mass approximately 15 mm in diameter was noted in the hepatic S6. We attempted radical treatment and conducted a laparoscope-assisted right lobectomy. On the basis of histopathological findings, the patient was diagnosed as having hyaline type Castleman disease in the liver, a very rare condition.

  9. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease Type 1a

    Energy Technology Data Exchange (ETDEWEB)

    Lei, K.J.; Shelly, L.L.; Pan, C.J.; Sidbury, J.B.; Chou, J.Y. (National Institutes of Health, Bethesda, MD (United States))

    1993-10-22

    Glycogen storage disease (GSD) type 1a is caused by the deficiency of d-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein, which is indistinguishable from human microsomal G6Pase are reported. Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy.

  10. Glycogen storage disease type 1a in three siblings with the G270V mutation.

    Science.gov (United States)

    Parvari, R; Isam, J; Moses, S W

    1999-04-01

    Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslin Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

  11. Interface characterization of B4C-based multilayers by X-ray grazing-incidence reflectivity and diffuse scattering.

    Science.gov (United States)

    Jiang, Hui; Wang, Zhanshan; Zhu, Jingtao

    2013-05-01

    B4C-based multilayers have important applications for soft to hard X-rays. In this paper, X-ray grazing-incidence reflectivity and diffuse scattering, combining various analysis methods, were used to characterize the structure of B4C-based multilayers including layer thickness, density, interfacial roughness, interdiffusion, correlation length, etc. Quantitative results for W/B4C, Mo/B4C and La/B4C multilayers were compared. W/B4C multilayers show the sharpest interfaces and most stable structures. The roughness replications of La/B4C and Mo/B4C multilayers are not strong, and oxidations and structure expansions are found in the aging process. This work provides guidance for future fabrication and characterization of B4C-based multilayers.

  12. Plasma osteoprotegerin is related to carotid and peripheral arterial disease, but not to myocardial ischemia in type 2 diabetes mellitus

    DEFF Research Database (Denmark)

    Poulsen, Mikael K; Nybo, Mads; Dahl, Jordi

    2011-01-01

    Cardiovascular disease (CVD) is frequent in type 2 diabetes mellitus patients due to accelerated atherosclerosis. Plasma osteoprotegerin (OPG) has evolved as a biomarker for CVD. We examined the relationship between plasma OPG levels and different CVD manifestations in type 2 diabetes.......Cardiovascular disease (CVD) is frequent in type 2 diabetes mellitus patients due to accelerated atherosclerosis. Plasma osteoprotegerin (OPG) has evolved as a biomarker for CVD. We examined the relationship between plasma OPG levels and different CVD manifestations in type 2 diabetes....

  13. Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

    Science.gov (United States)

    Souza, Cynthia C.; Hirotsu, Camila; Neves, Eduardo L.A.; Santos, Lidiane C.L.; Costa, Iandra M.P.F.; Garcez, Catarina A.; Nunes, Paula S.; Araujo, Adriano A.S.

    2015-01-01

    Objectives: Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Methods: Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. Results: 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m2); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Conclusions: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. Citation: Souza CC, Hirotsu C, Neves EL, Santos LC, Costa IM, Garcez CA, Nunes PS, Araujo AA. Sleep pattern in charcot-marie-tooth disease type 2: report of family case series. J Clin Sleep Med 2015;11(3):205–211. PMID:25515278

  14. E4 antibodies facilitate detection and type-assignment of active HPV infection in cervical disease.

    Directory of Open Access Journals (Sweden)

    Heather Griffin

    Full Text Available High-risk human papillomavirus (HPV infections are the cause of nearly all cases of cervical cancer. Although the detection of HPV DNA has proved useful in cervical diagnosis, it does not necessarily predict disease presence or severity, and cannot conclusively identify the causative type when multiple HPVs are present. Such limitations may be addressed using complementary approaches such as cytology, laser capture microscopy, and/or the use of infection biomarkers. One such infection biomarker is the HPV E4 protein, which is expressed at high level in cells that are supporting (or have supported viral genome amplification. Its distribution in lesions has suggested a role in disease staging. Here we have examined whether type-specific E4 antibodies may also allow the identification and/or confirmation of causal HPV-type. To do this, type-specific polyclonal and monoclonal antibodies against three E4 proteins (HPV-16, -18, and -58 were generated and validated by ELISA and western blotting, and by immunohistochemistry (IHC staining of epithelial rafts containing these individual HPV types. Type-specific detection of HPV and its associated disease was subsequently examined using formalin-fixed paraffin-embedded cervical intra-epithelial neoplasias (CIN, (n = 247 and normal controls (n = 28. All koilocytotic CIN1 lesions showed type-specific E4 expression of their respective HPV types. Differences were noted amongst E4 expression patterns in CIN3. HPV-18 E4 was not detected in any of the 6 HPV-18 DNA-positive CIN3 lesions examined, whereas in HPV-16 and -58 CIN3, 28/37 (76% and 5/9 (55.6% expressed E4 respectively, usually in regions of epithelial differentiation. Our results demonstrate that type-specific E4 antibodies can be used to help establish causality, as may be required when multiple HPV types are detected. The unique characteristics of the E4 biomarker suggest a role in diagnosis and patient management particularly when used in combination.

  15. Microvascular disease during pregnancy in type 1 diabetes is associated with ambulatory arterial stiffness

    DEFF Research Database (Denmark)

    Tjessem, Ingvild; Al-Far, Hanine M; Fuglsang, Jens

    2017-01-01

    Objectives: The objective of this study was to evaluate the association between the ambulatory arterial stiffness index (AASI) and markers of microvascular disease during pregnancy in women with type 1 diabetes. Study design: A total of 151 women with type 1 diabetes mellitus were recruited...... for repeat 24-h BP recordings thrice during pregnancy and once three months post partum. Fifty women without diabetes served as controls. The AASI and pulse pressure (PP) were computed from blood pressure recordings. Repeated measures analysis of variance was used for comparison between groups during...

  16. A new variant in PHKA2 is associated with glycogen storage disease type IXa

    Directory of Open Access Journals (Sweden)

    Carmen Rodríguez-Jiménez

    2017-03-01

    Full Text Available Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS. We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2:c.1963G>A, p.(Glu655Lys in PHKA2 exon 18. In silico analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site. The variant was found as a “de novo” event.

  17. Disease Type- and Status-Specific Alteration of CSF Metabolome Coordinated with Clinical Parameters in Inflammatory Demyelinating Diseases of CNS.

    Directory of Open Access Journals (Sweden)

    Soo Jin Park

    Full Text Available Central nervous system (CNS inflammatory demyelinating diseases (IDDs are a group of disorders with different aetiologies, characterized by inflammatory lesions. These disorders include multiple sclerosis (MS, neuromyelitis optica spectrum disorder (NMOSD, and idiopathic transverse myelitis (ITM. Differential diagnosis of the CNS IDDs still remains challenging due to frequent overlap of clinical and radiological manifestation, leading to increased demands for new biomarker discovery. Since cerebrospinal fluid (CSF metabolites may reflect the status of CNS tissues and provide an interfacial linkage between blood and CNS tissues, we explored multi-component biomarker for different IDDs from CSF samples using gas chromatography mass spectrometry-based metabolite profiling coupled to multiplex bioinformatics approach. We successfully constructed the single model with multiple metabolite variables in coordinated regression with clinical characteristics, expanded disability status scale, oligoclonal bands, and protein levels. The multi-composite biomarker simultaneously discriminated four different immune statuses (a total of 145 samples; 54 MS, 49 NMOSD, 30 ITM, and 12 normal controls. Furthermore, systematic characterization of transitional metabolic modulation identified relapse-associated metabolites and proposed insights into the disease network underlying type-specific metabolic dysfunctionality. The comparative analysis revealed the lipids, 1-monopalmitin and 1-monostearin were common indicative for MS, NMOSD, and ITM whereas fatty acids were specific for the relapse identified in all types of IDDs.

  18. Association of Chronic Kidney Disease and Cerebral Small Vessel Disease with Cognitive Impairment in Elderly Patients with Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Toshitaka Umemura

    2013-07-01

    Full Text Available Background/Aims: In recent years, the relationship between chronic kidney disease (CKD and cognitive impairment has been attracting attention. Cerebral small vessel disease (SVD is also associated with an increased risk of cognitive impairment. However, it is still unknown whether CKD markers are associated with cognitive impairment independently of SVD in elderly diabetic patients. Methods: Seventy-nine type 2 diabetic patients (mean age, 76.0 years were enrolled in the present study. CKD was defined as the presence of albuminuria and/or a low estimated glomerular filtration rate (eGFR 2. SVD was evaluated by the presence and severity of silent brain infarcts (SBIs and white matter lesions (WMLs on brain magnetic resonance imaging. Neuropsychological tests were assessed using four validated cognitive instruments. Results: In multiple linear regression analyses, albuminuria was associated with worse modified Stroop Color Word scores (β = 0.284, p = 0.017 and low eGFR was associated with reduced Digit Symbol Substitution scores (β = -0.224, p = 0.026 after adjustment for age, sex, education years, diabetes duration, hypertension, multiple SBIs, and advanced WMLs. In contrast, there were no significant associations between CKD markers and Mini-Mental State Examination or Word Recall scores. Conclusion: Our findings suggest that albuminuria and low eGFR are associated with frontal lobe dysfunction independently of SVD in elderly type 2 diabetic patients.

  19. Crosstalk between type II NKT cells and T cells leads to spontaneous chronic inflammatory liver disease.

    Science.gov (United States)

    Weng, Xiufang; He, Ying; Visvabharathy, Lavanya; Liao, Chia-Min; Tan, Xiaosheng; Balakumar, Arjun; Wang, Chyung-Ru

    2017-10-01

    Natural killer T (NKT) cells are CD1d-restricted innate-like T cells that modulate innate and adaptive immune responses. Unlike the well-characterized invariant/type I NKT cells, type II NKT cells with a diverse T cell receptor repertoire are poorly understood. This study defines the pathogenic role of type II NKT cells in the etiology of chronic liver inflammation. Transgenic mice with the Lck promoter directing CD1d overexpression on T cells in Jα18 wild-type (Lck-CD1dTgJα18 + ; type I NKT cell sufficient) and Jα18-deficient (Lck-CD1dTgJα18 o , type I NKT cell deficient) mice were analyzed for liver pathology and crosstalk between type II NKT cells and conventional T cells. CD1d expression on T cells in peripheral blood samples and liver sections from autoimmune hepatitis patients and healthy individuals were also examined. Lck-CD1dTgJα18 o and Lck-CD1dTgJα18 + mice developed similar degrees of liver pathology resembling chronic autoimmune hepatitis in humans. Increased CD1d expression on T cells promoted the activation of type II NKT cells and other T cells. This resulted in T h 1-skewing and impaired T h 2 cytokine production in type II NKT cells. Dysfunction of type II NKT cells was accompanied by conventional T cell activation and pro-inflammatory cytokine production, leading to a hepatic T/B lymphocyte infiltration, elevated autoantibodies and hepatic injury in Lck-CD1dTg mice. A similar mechanism could be extended to humans as CD1d expression is upregulated on activated human T cells and increased presence of CD1d-expressing T cells was observed in autoimmune hepatitis patients. Our data reveals enhanced crosstalk between type II NKT cells and conventional T cells, leading to a T h 1-skewed inflammatory milieu, and consequently, to the development of chronic autoimmune liver disease. Lay summary: CD1d overexpression on T cells enhances crosstalk between type II NKT cells and T cells, resulting in their aberrant activation and leading to the

  20. Neutron absorption of Al-Si-Mg-B{sub 4}C composite

    Energy Technology Data Exchange (ETDEWEB)

    Abdullah, Yusof, E-mail: yusofabd@nuclearmalaysia.gov.my; Yusof, Mohd Reusmaazran [Malaysian Nuclear Agency, 43000, Bangi Selangor (Malaysia); Ibrahim, Anis Syukriah; Daud, Abdul Razak [Department of Applied Physics, Faculty of Science & Technology, National University of Malaysia, 43600, Bangi Selangor (Malaysia)

    2016-01-22

    Al-Si-Mg-B{sub 4}C composites containing 2-8 wt% of B{sub 4}C were prepared by stir casting technique. Homogenization treatment was carried out at temperatures of 540°C for 4 houra and followed by ageing at 180°C for 2 houra. Microstructure and phase identification were studied by scanning electron microscopy (SEM) and X-ray diffraction (XRD) respectively. Neutron absorption study was investigated using neutron source Am/Be{sup 241}. The result indicated that higher B{sub 4}C content improved the neutron absorption property. Meanwhile homogeneity of the composite was increased by ageing processes. This composite is potential to be used as neutron shielding material especially for nuclear reactor application.

  1. B4C-MODIFIED SiO2-PHENOLIC Composites for Enhanced Ablation Resistance

    Science.gov (United States)

    Li, Maoyuan; Lu, Lin; Dai, Zhen; Hong, Yiqiang; Chen, Weiwei; Zhang, Yuping; Qiao, Yingjie

    In the present paper, the silica-phenolic composite (S-Ph) composites with different amount of B4C were prepared, and the ablation tests of these composites were carried out using oxygen-acetylene jet. The ablation process was systematically investigated. The addition of B4C with appropriate amount can efficiently improve the ablation resistance of S-Ph. The results showed that S-Ph containing B4C powder of 2wt.% exhibited the lowest linear and mass ablation rate. The influence mechanism for the results was analyzed deeply. The surface morphologies, phase composition, density and thermal conductivity of composites were characterized using a scanning electron microscope (SEM), X-Ray Diffraction (XRD), Archimedes method, and thermal conductivity meter, respectively. The present investigation will provide a theoretical basis for the preparation of the ablation resistant material.

  2. Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease.

    Science.gov (United States)

    Casas, Jessica; Friedman, David F; Jackson, Tannoa; Vege, Sunitha; Westhoff, Connie M; Chou, Stella T

    2015-06-01

    Extended red blood cell (RBC) antigen matching is recommended to limit alloimmunization in patients with sickle cell disease (SCD). DNA-based testing to predict blood group phenotypes has enhanced availability of antigen-negative donor units and improved typing of transfused patients, but replacement of routine serologic typing for non-ABO antigens with molecular typing for patients has not been reported. This study compared the historical RBC antigen phenotypes obtained by hemagglutination methods with genotype predictions in 494 patients with SCD. For discrepant results, repeat serologic testing was performed and/or investigated by gene sequencing for silent or variant alleles. Seventy-one typing discrepancies were identified among 6360 antigen comparisons (1.1%). New specimens for repeat serologic testing were obtained for 66 discrepancies and retyping agreed with the genotype in 64 cases. One repeat Jk(b-) serologic phenotype, predicted Jk(b+) by genotype, was found by direct sequencing of JK to be a silenced allele, and one N typing discrepancy remains under investigation. Fifteen false-negative serologic results were associated with alleles encoding weak antigens or single-dose Fy(b) expression. DNA-based RBC typing provided improved accuracy and expanded information on RBC antigens compared to hemagglutination methods, leading to its implementation as the primary method for extended RBC typing for patients with SCD at our institution. © 2015 AABB.

  3. Application of full factorial design to study the tribological properties of AA6061-B4C and AA6061-B4C-MoS2 composites

    Directory of Open Access Journals (Sweden)

    Monikandan V. V.

    2018-03-01

    Full Text Available This study statistically analyzes the tribological properties of AA6061-10 wt. % B4C mono composite and AA6061-10 wt.% B4C-7.5 wt. % MoS2 hybrid composite. The tribological behavior of the composites was studied at atmospheric conditions using a pin-on-disk tribo-tester. The tribological experiments were conducted as per the full factorial design (FFD experimental scheme. The ANOVA analysis of the wear rate revealed that the three factors, A (MoS2 particles addition, B (applied load, and D (sliding distance presented the physical and statistical significance on the wear rate. The ANOVA analysis of the friction coefficient revealed that the factors B (applied load and C (sliding speed and interaction AB (interaction of MoS2 particles addition and applied load presented the physical and statistical significance on the friction coefficient. It is observed from the main effects plots of the wear rate and friction coefficient that the increase in the levels of factors B (applied load and D (sliding distance increased the wear rate and friction coefficient. However, the wear rate and friction coefficient decreased with the increase in the level of factor A (MoS2 particles addition.

  4. Management of Nonalcoholic Fatty Liver Disease in Patients With Type 2 Diabetes: A Call to Action.

    Science.gov (United States)

    Bril, Fernando; Cusi, Kenneth

    2017-03-01

    Traditionally a disease of hepatologists, nonalcoholic fatty liver disease (NAFLD) has recently become a major concern for a broad spectrum of health care providers. Endocrinologists and those caring for patients with type 2 diabetes mellitus (T2DM) are at center stage, as T2DM appears to worsen the course of NAFLD and the liver disease makes diabetes management more challenging. However, the nature of this relationship remains incompletely understood. Although the increasing prevalence of NAFLD is frequently attributed to the epidemic of obesity and is often oversimplified as the "hepatic manifestation of the metabolic syndrome," it is a much more complex disease process that may also be observed in nonobese individuals and in patients without clinical manifestations of the metabolic syndrome. It carries both metabolic and liver-specific complications that make its approach unique among medical conditions. Diabetes appears to promote the development of nonalcoholic steatohepatitis (NASH), the more severe form of the disease, and increases the risk of cirrhosis and hepatocellular carcinoma. Patients and physicians face many uncertainties, including fragmented information on the natural history of the disease, challenges in the diagnosis of NASH, and few pharmacological agents with proven efficacy. However, recent advances in diagnosis and treatment, combined with the risk of serious consequences from inaction, call for health care providers to be more proactive in the management of patients with T2DM and NASH. © 2017 by the American Diabetes Association.

  5. Periodontal disease and type 2 diabetes mellitus: is the HMGB1-RAGE axis the missing link?

    Science.gov (United States)

    Morimoto-Yamashita, Yoko; Ito, Takashi; Kawahara, Ko-Ichi; Kikuchi, Kiyoshi; Tatsuyama-Nagayama, Shoko; Kawakami-Morizono, Yoshiko; Fijisawa, Mari; Miyashita, Keiko; Emoto, Makiko; Torii, Mitsuo; Tokuda, Masayuki

    2012-10-01

    Periodontitis is a major chronic inflammatory disease associated with increased production of numerous proinflammatory cytokines, which leads to the destruction of the periodontal tissue and ultimately loss of teeth. Periodontitis has powerful and multiple influences on the occurrence and severity of systemic conditions and diseases, such as diabetes mellitus, cardiovascular disease and respiratory disease. Meanwhile, diabetes is associated with increased prevalence, severity and progression of periodontal disease. There is also abundant evidence showing that diabetes plays important etiological roles in periodontitis. High mobility group box 1 (HMGB1) was recently identified as a lethal mediator of severe sepsis and comprises a group of intracellular proteins that function as inflammatory cytokines when released into the extracellular milieu. From a clinical perspective, extracellular HMGB1 can cause multiple organ failure and contribute to the pathogenesis of sepsis, rheumatoid arthritis, cardiovascular disease and diabetes. We recently reported that HMGB1 expression in periodontal tissues was elevated in patients with severe periodontitis. In addition, the receptor for advanced glycation end-products (RAGE), a receptor for HMGB1, was strongly expressed in gingival tissues obtained from patients with type 2 diabetes and periodontitis compared with systemically healthy patients with chronic periodontitis patients. From these data, we hypothesize that HMGB1 might play a role in the development of diabetes-associated periodontitis. Copyright © 2012 Elsevier Ltd. All rights reserved.

  6. Oral hypoglycaemic agents, insulin resistance and cardiovascular disease in patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Hemmingsen, Bianca; Lund, Søren S; Wetterslev, Jørn

    2009-01-01

    This article is a narrative review of the current evidence of the effects on cardiovascular disease (CVD) of oral hypoglycaemic agents that increase insulin sensitivity in patients with type 2 diabetes (T2D). In overweight T2D patients, metformin has been demonstrated to reduce CVD risk, and this......This article is a narrative review of the current evidence of the effects on cardiovascular disease (CVD) of oral hypoglycaemic agents that increase insulin sensitivity in patients with type 2 diabetes (T2D). In overweight T2D patients, metformin has been demonstrated to reduce CVD risk......, and this beneficial effect may be conserved with the combination of metformin and insulin treatment. However, the effect of glitazones on CVD is uncertain. There is conflicting evidence from large randomized trials to support a protective effect against CVD of lowering blood glucose per se but a systematic review...

  7. New susceptibility loci associated with kidney disease in type 1 diabetes

    DEFF Research Database (Denmark)

    Sandholm, Niina; Salem, Rany M; McKnight, Amy Jayne

    2012-01-01

    of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular......Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion...... SNP in the ERBB4 gene (rs7588550, P = 2.1 × 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN....

  8. Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

    Science.gov (United States)

    Bendroth-Asmussen, Lisa; Aksglaede, Lise; Gernow, Anne B; Lund, Allan M

    2016-01-01

    A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies.

  9. Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

    Science.gov (United States)

    Bernier, A. V.; Sentner, C. P.; Correia, C. E.; Theriaque, D. W.; Shuster, J. J.; Smit, G. P. A.

    2013-01-01

    Summary While the presence of hyperlipidaemia in glycogen storage disease (GSD) type Ia and Ib is generally accepted, few investigators have adequately assessed lipid profiles of GSD III in children, in whom the presence of hyperlipidaemia may be most prominent. We analysed the lipid profiles in 44 GSD III patients from 6 months to 30 years of age. Hypertriglyceridaemia and hypercholesterolaemia were common in children younger than 3 years of age. Hypertriglyceridaemia correlated negatively with age, and may reflect increased severity of hypoglycaemia in this younger population. The presence of hyperlipidaemia during childhood in these patients identifies another GSD population that could be at risk for early cardiovascular disease (CVD). Consequently, the outcome of clinical trials investigating the vascular effect of hyperlipidaemia in GSD applies to types other than GSD I. PMID:18709545

  10. Neurofibromatosis type I (von Recklinghausen′s disease: A family case report and literature review

    Directory of Open Access Journals (Sweden)

    Parichehr Ghalayani

    2012-01-01

    Full Text Available The term neurofibromatosis (NF is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1, also known as von Recklinghausen′s disease, is the most common type of NF, and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3,000 births. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of the NF1 patients. The aim of this article is to report the NF1 in a family with different manifestations and to review the literature.

  11. Non-alcoholic fatty liver disease and type 2 diabetes mellitus: the liver disease of our age?

    Science.gov (United States)

    Firneisz, Gábor

    2014-07-21

    Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease that might affect up to one-third of the adult population in industrialised countries. NAFLD incorporates histologically and clinically different non-alcoholic entities; fatty liver (NAFL, steatosis hepatis) and steatohepatitis (NASH-characterised by hepatocyte ballooning and lobular inflammation ± fibrosis) might progress to cirrhosis and rarely to hepatocellular cancer. NAFL increasingly affects children (paediatric prevalence is 4.2%-9.6%). Type 2 diabetes mellitus (T2DM), insulin resistance (IR), obesity, metabolic syndrome and NAFLD are particularly closely related. Increased hepatic lipid storage is an early abnormality in insulin resistant women with a history of gestational diabetes mellitus. The accumulation of triacylglycerols in hepatocytes is predominantly derived from the plasma nonesterified fatty acid pool supplied largely by the adipose tissue. A few NAFLD susceptibility gene variants are associated with progressive liver disease, IR, T2DM and a higher risk for hepatocellular carcinoma. Although not approved, pharmacological approaches might be considered in NASH patients.

  12. Non-alcoholic fatty liver disease and type 2 diabetes mellitus: The liver disease of our age?

    Science.gov (United States)

    Firneisz, Gábor

    2014-01-01

    Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease that might affect up to one-third of the adult population in industrialised countries. NAFLD incorporates histologically and clinically different non-alcoholic entities; fatty liver (NAFL, steatosis hepatis) and steatohepatitis (NASH-characterised by hepatocyte ballooning and lobular inflammation ± fibrosis) might progress to cirrhosis and rarely to hepatocellular cancer. NAFL increasingly affects children (paediatric prevalence is 4.2%-9.6%). Type 2 diabetes mellitus (T2DM), insulin resistance (IR), obesity, metabolic syndrome and NAFLD are particularly closely related. Increased hepatic lipid storage is an early abnormality in insulin resistant women with a history of gestational diabetes mellitus. The accumulation of triacylglycerols in hepatocytes is predominantly derived from the plasma nonesterified fatty acid pool supplied largely by the adipose tissue. A few NAFLD susceptibility gene variants are associated with progressive liver disease, IR, T2DM and a higher risk for hepatocellular carcinoma. Although not approved, pharmacological approaches might be considered in NASH patients. PMID:25083080

  13. Recognition of lysophosphatidylcholine by type II NKT cells and protection from an inflammatory liver disease.

    Science.gov (United States)

    Maricic, Igor; Girardi, Enrico; Zajonc, Dirk M; Kumar, Vipin

    2014-11-01

    Lipids presented by the MHC class I-like molecule, CD1d, are recognized by NK T (NKT) cells, which can be broadly categorized into two subsets. The well-characterized type I NKT cells express a semi-invariant TCR and can recognize both α- and β-linked glycolipids, whereas type II NKT cells are less well studied, express a relatively diverse TCR repertoire, and recognize β-linked lipids. Recent structural studies have shown a distinct mode of recognition of a self-glycolipid sulfatide bound to CD1d by a type II NKT TCR. To further characterize Ag recognition by these cells, we have used the structural data and screened other small molecules able to bind to CD1d and activate type II NKT cells. Using plate-bound CD1d and APC-based Ag presentation assay, we found that phospholipids such as lysophosphatidylcholine (LPC) can stimulate the sulfatide-reactive type II NKT hybridoma Hy19.3 in a CD1d-dependent manner. Using plasmon resonance studies, we found that this type II NKT TCR binds with CD1d-bound LPC with micromolar affinities similar to that for sulfatide. Furthermore, LPC-mediated activation of type II NKT cells leads to anergy induction in type I NKT cells and affords protection from Con A-induced hepatitis. These data indicate that, in addition to self-glycolipids, self-lysophospholipids are also recognized by type II NKT cells. Because lysophospholipids are involved during inflammation, our findings have implications for not only understanding activation of type II NKT cells in physiological settings, but also for the development of immune intervention in inflammatory diseases. Copyright © 2014 by The American Association of Immunologists, Inc.

  14. Childhood BMI and Adult Type 2 Diabetes, Coronary Artery Diseases, Chronic Kidney Disease, and Cardiometabolic Traits: A Mendelian Randomization Analysis.

    Science.gov (United States)

    Geng, Tingting; Smith, Caren E; Li, Changwei; Huang, Tao

    2018-05-01

    To test the causal effect of childhood BMI on adult cardiometabolic diseases using a Mendelian randomization analysis. We used 15 single nucleotide polymorphisms as instrumental variables for childhood BMI to test the causal effect of childhood BMI on cardiometabolic diseases using summary-level data from consortia. We found that a 1-SD increase in childhood BMI (kg/m 2 ) was associated with an 83% increase in risk of type 2 diabetes (odds ratio [OR] 1.83 [95% CI 1.46, 2.30]; P = 2.5 × 10 -7 ) and a 28% increase in risk of coronary artery disease (CAD) (OR 1.28 [95% CI 1.17, 1.39]; P = 2.1 × 10 -8 ) at the Bonferroni-adjusted level of significance ( P BMI was associated with a 0.587-SD increase in adulthood BMI (kg/m 2 ), a 0.062-SD increase in hip circumference (cm), a 0.602-SD increase in waist circumference (cm), a 0.111 pmol/L increase in log fasting insulin, a 0.068 increase in log-transformed HOMA of ß-cell function (%), a 0.126 increase in log-transformed HOMA of insulin resistance (%), and a 0.109-SD increase in triglyceride (mg/dL) but a 0.138-SD decrease in HDL (mg/dL) in adults at the Bonferroni-adjusted level of significance ( P BMI was associated with increased risk of type 2 diabetes and CAD in adult life. These results provide evidence supportive of a causal association between childhood BMI and these outcomes. © 2018 by the American Diabetes Association.

  15. The relationship between disease activity, quality of life, and personality types in rheumatoid arthritis and ankylosing spondylitis patients.

    Science.gov (United States)

    Donisan, T; Bojincă, V C; Dobrin, M A; Bălănescu, D V; Predețeanu, D; Bojincă, M; Berghea, F; Opriș, D; Groșeanu, L; Borangiu, A; Constantinescu, C L; Ionescu, R; Bălănescu, A R

    2017-07-01

    We hypothesized that clinical outcomes might be influenced by personality type (A, B, C, D) in rheumatoid arthritis (RA) and ankylosing spondylitis (AS). One hundred ninety-four patients (104 with RA, 90 with AS) participated in a questionnaire study. We evaluated health-related quality of life (HRQoL) using the Medical Outcome Study Short-Form 36 (SF-36), personality type A/B with the Jenkins Activity Survey, type C with the State-Trait Anger Expression Inventory Anger-in Scale, type D with the Type D Personality Scale, and disease activity with Disease Activity Score with 28 joints for RA and Bath Ankylosing Spondylitis Disease Activity Index for AS. We used Pearson's correlation coefficient, independent samples t tests, and multivariate analyses of variance. In the RA group, type D personality was significantly correlated with 7/12 SF-36 components. AS patients with type D personality had deficits in all SF-36 subscales. Type D was related with higher disease activity in RA and AS. Both RA and AS type C patients had more active disease forms and negatively affected HRQoL subscales. In the RA group, type A personality did not correlate with HRQoL, but it positively influenced pain visual analog scale scores. In AS patients, type A personality was linked with higher HRQoL and with less active disease. Type C and type D personality types were correlated with decreased HRQoL and higher disease activity in RA and AS patients. Type A personality was associated with less active disease and higher HRQoL in AS patients and with less pain in RA patients.

  16. CLOCK gene variation is associated with incidence of type-2 diabetes and cardiovascular diseases in type-2 diabetic subjects: dietary modulation in the PREDIMED randomized trial

    Science.gov (United States)

    Background Circadian rhythms regulate key biological processes influencing metabolic pathways. Dysregulation is associated with type 2 diabetes (T2D) and cardiovascular diseases (CVD). Circadian rhythms are generated by a transcriptional autoregulatory feedback loop involving core clock genes. CLOCK...

  17. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

    OpenAIRE

    Rosenbaum, Anton I.; Maxfield, Frederick R.

    2011-01-01

    Cholesterol is an important lipid of mammalian cells. Its unique physicochemical properties modulate membrane behavior and it serves as the precursor for steroid hormones, oxysterols and vitamin D. Cholesterol is effluxed from the late endosomes/lysosomes via the concerted action of at least two distinct proteins: Niemann-Pick C1 and Niemann-Pick C2. Mutations in these two proteins manifest as Niemann-Pick type C disease – a very rare, usually fatal, autosomal, recessive, neurovisceral, lysos...

  18. sup 1 sup 4 C dating of the Niya site in the Tarim Basin

    CERN Document Server

    Yonenobu, H

    2000-01-01

    The sup 1 sup 4 C ages were determined for wood samples collected from the Niya site in the Tarim Basin, China. The calendar sup 1 sup 4 C ages are the oldest in the northern part (800-100 cal BC) and the youngest (140-620 cal AD) in the southern part. The results suggest that ancient Niya had moved southward during the period of ca. 2300-1600 BP. The ages in the middle and the southern parts are consistent with the previous studies of old documents.

  19. Synthesis and characterisation of substrate-based peptides as inhibitors of histone demethylase KDM4C

    DEFF Research Database (Denmark)

    Nielsen, Simon D; Leurs, Ulrike; Bergner, Magnus

    2016-01-01

    The design and synthesis of modified pentapeptides based on a truncated version of the substrate for KDM4C, a histone lysine demethylase (KDM), and investigation of their inhibitory activity at KDM4C is reported. By modifying the lysine residue corresponding to lysine 9 at histone 3 (H3K9), three...... different series of peptides were designed and synthesized. One series contained N-acylated H3K9 and two series introduced triazoles in this position via click chemistry to enable facile variation of headgroups. As the click reaction is compatible with free amino acids this was performed on an azido...

  20. Trialling the 4C framework in an Indian grade 3 mathematics classroom

    OpenAIRE

    Rangarajan, Swathi

    2017-01-01

    This thesis describes an action research carried out in a Grade 3 maths classroom in a low income, English medium school in Mumbai, India. The maths teacher in the study used the 4C model proposed by Do Coyle (2010) as a framework of Content and Language Integrated Learning (CLIL) for teaching maths in English to students whose exposure to English outside the classroom was negligible. The aim of this research was to understand from a teacher’s perspective how the 4C framework contributed to t...

  1. Study on the influence of the B4C layer thickness on the neutron flux and energy distribution shape in multi-electrode ionisation chamber.

    Science.gov (United States)

    Tymińska, K; Maciak, M; Ośko, J; Tulik, P; Zielczyński, M; Gryziński, M A

    2014-10-01

    A model of a multi-electrode ionisation chamber, with polypropylene electrodes coated with a thin layer of B4C was created within Monte Carlo N-Particle Transport Code (MCNPX) and Fluktuierende Kaskade (FLUKA) codes. The influence of the layer thickness on neutron absorption in B4C and on the neutron spectra in the consecutive intra-electrode gas volumes has been studied using the MCNPX and FLUKA codes. The results will be used for designing the new type of the ionisation chamber. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. Type 1 diabetes mellitus and periodontal disease: relationship to different clinical variables.

    Science.gov (United States)

    Silvestre, Francisco-J; Miralles, Lucía; Llambes, Fernando; Bautista, Daniel; Solá-Izquierdo, Eva; Hernández-Mijares, Antonio

    2009-04-01

    This study is designed to evaluate the frequency of periodontal disease in a group of patients with type 1 diabetes mellitus and how this relates with diabetes metabolic control, duration of diabetes, and presence of diabetic complications. A comparison was made of periodontal parameters (plaque index, bleeding index, pocket depth and attachment loss) in a group of diabetic patients (n=90) versus a group of non-diabetics (n=90). Logistic regression analysis was performed to evaluate relationship between periodontal parameters and degree of metabolic control, the duration of the disease, and the appearance of complications. Diabetics had greater bleeding index (pperiodontal pockets (pperiodontal attachment loss (pdiabetics. Deficient metabolic control and presence of diabetic complication were associated with higher bleeding index and pocket depth (pdiabetes appear to show increased periodontal disease susceptibility, particularly those with poorer metabolic control or with diabetic complications.

  3. Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges

    Directory of Open Access Journals (Sweden)

    Alexandra Fernandes

    2016-03-01

    Full Text Available Refractory celiac disease is an uncommon but serious complication of celiac disease. We describe a case of a severe refractory celiac disease type II, complicated with ulcerative jejunoileitis, in a 68 years old female, unresponsive to consecutive treatments with budesonide, prednisolone, cladribine and autologous stem cell transplantation. The patient maintained severe malnutrition, advanced osteoporosis, anaemia, vitamin deficiencies and hydro-electrolytic imbalances, necessitating consecutive hospitalizations for total parenteral nutrition. The patient also developed life-threatening complications, namely respiratory and urinary septic shock and also episodes of haemorrhagic shock secondary to ulcerative jejunoileitis. The progression to enteropathy associated T-cell lymphoma was never demonstrated, but the patient died 7 years after the diagnosis due to a septic shock secondary to a nosocomial pneumonia and osteomyelitis related to a spontaneous hip fracture. This case highlights the difficulties in the diagnostic process, therapeutic management and surveillance of this rare condition associated with very poor prognosis.

  4. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    International Nuclear Information System (INIS)

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease

  5. Prediction of different types of liver diseases using rule based classification model.

    Science.gov (United States)

    Kumar, Yugal; Sahoo, G

    2013-01-01

    Diagnosing different types of liver diseases clinically is a quite hectic process because patients have to undergo large numbers of independent laboratory tests. On the basis of results and analysis of laboratory test, different liver diseases are classified. Hence to simplify this complex process, we have developed a Rule Base Classification Model (RBCM) to predict different types of liver diseases. The proposed model is the combination of rules and different data mining techniques. The objective of this paper is to propose a rule based classification model with machine learning techniques for the prediction of different types of Liver diseases. A dataset was developed with twelve attributes that include the records of 583 patients in which 441 patients were male and rests were female. Support Vector Machine (SVM), Rule Induction (RI), Decision Tree (DT), Naive Bayes (NB) and Artificial Neural Network (ANN) data mining techniques with K-cross fold technique are used with the proposed model for the prediction of liver diseases. The performance of these data mining techniques are evaluated with accuracy, sensitivity, specificity and kappa parameters as well as statistical techniques (ANOVA and Chi square test) are used to analyze the liver disease dataset and independence of attributes. Out of 583 patients, 416 patients are liver diseases affected and rests of 167 patients are healthy. The proposed model with decision tree (DT) technique provides the better result among all techniques (RI, SVM, ANN and NB) with all parameters (Accuracy 98.46%, Sensitivity 95.7%, Specificity 95.28% and Kappa 0.983) while the SVM exhibits poor performance (Accuracy 82.33%, Sensitivity 68.03%, Specificity 91.28% and Kappa 0.801). It is also found that the best performance of the model without rules (RI, Accuracy 82.68%, Sensitivity 86.34%, Specificity 90.51% and Kappa 0.619) is almost similar to the worst performance of the rule based classification model (SVM, Accuracy 82

  6. Oxidative Stress Parameters in Saliva and Its Association with Periodontal Disease and Types of Bacteria.

    Science.gov (United States)

    Almerich-Silla, Jose Manuel; Montiel-Company, Jose María; Pastor, Sara; Serrano, Felipe; Puig-Silla, Miriam; Dasí, Francisco

    2015-01-01

    To determine the association between oxidative stress parameters with periodontal disease, bleeding, and the presence of different periodontal bacteria. A cross-sectional study in a sample of eighty-six patients, divided into three groups depending on their periodontal status. Thirty-three with chronic periodontitis, sixteen with gingivitis, and thirty-seven with periodontal healthy as control. Oxidative stress biomarkers (8-OHdG and MDA), total antioxidant capacity (TAOC), and the activity of two antioxidant enzymes (GPx and SOD) were determined in saliva. Subgingival plaque samples were obtained from the deepest periodontal pocket and PCR was used to determine the presence of the 6 fimA genotypes of Porphyromonas gingivalis, Aggregatibacter actinomycetemcomitans, Tannerella forsythia, and Treponema denticola. Periodontal disease was found to be associated with increased oxidative stress parameter levels. These levels rose according to the number and type of different periodontal bacteria found in the periodontal pockets. The presence of different types of periodontal bacteria is predictive independent variables in linear regresion models of oxidative stress parameters as dependent variable, above all 8-OHdG. Oxidative stress parameter levels are correlated with the presence of different types of bacteria. Determination of these levels and periodontal bacteria could be a potent tool for controlling periodontal disease development.

  7. Thyroid Diseases in Omani Type 2 Diabetics: A Retrospective Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Sanaa Al-Sumry

    2015-01-01

    Full Text Available Background. Diabetes mellitus and thyroid diseases are common endocrine disorders in the general population and found to exist simultaneously. This study aimed to establish the prevalence of thyroid dysfunction among Omani type 2 diabetics and its association with glycemic control. Methodology. A retrospective cross-sectional randomized primary and secondary care based study of 285 Omani type 2 diabetics, ≥ 30 years of age with known thyroid function. The following parameters were examined: age, sex, duration of diabetes, duration of thyroid disease, thyroid morphology, thyroid function, thyroid antibodies, and the mean glycated hemoglobin (mean HbA1C. The prevalence of thyroid dysfunction was compared to an independent control group of randomly selected healthy individuals with known thyroid function. Results. Thyroid dysfunction was found in 12.6% of the diabetic patients compared to 4.9% in the control group. The prevalence was higher among the diabetic females (86% compared to diabetic males (14%. The commonest thyroid dysfunction among diabetics was overt hypothyroidism (4.6%. Subclinical hypothyroidism was the commonest thyroid dysfunction seen in less controlled diabetics at a mean HbA1c of 7.8 (± 0.7. Conclusion. Screening for thyroid dysfunction in patients with type 2 diabetes mellitus should be routinely performed considering the higher prevalence of thyroid diseases in this group compared to the general population.

  8. Delayed-type hypersensitivity to metals in connective tissue diseases and fibromyalgia.

    Science.gov (United States)

    Bjørklund, Geir; Dadar, Maryam; Aaseth, Jan

    2018-02-01

    Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. A detailed metal exposure history was collected by different evaluation of studies. In all subjects, the main source of metal exposure was nickel, mercury, gold, palladium, titanium, and chromium. All of SLE (systemic lupus erythematosus), RA and SS patients appeared to have an increased frequency of metal delayed-type hypersensitivity (DTH) (Type IV allergy). As dental restorative materials release minor amounts of their metals (including mercury, gold, and nickel), many adults are commonly exposed to these metal ions by vapor or corrosion into saliva. Metal-related DTH in these patients will induce an inflammatory response. Such inflammations are important factors in CTD progress. It is hypothesized that metal-specific T cell reactivity can act as an etiological agent in the propagation and chronification of rheumatic inflammation. The key responses of metal delayed-type hypersensitivity in autoimmunity are precipitating as an appealing challenge for further investigations. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. [Achievement of cardiovascular goals in patients diagnosed with type 2 diabetes with and without cardiovascular disease].

    Science.gov (United States)

    Garzón, Gerardo; Gil, Ángel; Herrero, Ana María; Jiménez, Fernando; Cerezo, María José; Domínguez, Cristina

    2015-01-01

    To determine the proportion of patients with type 2 diabetes with and without cardiovascular disease achieving the main cardiovascular goals. Cross-sectional study. A regional health district in a European country, Spain. Year: 2013. Adult patients diagnosed with type 2 diabetes with and without cardiovascular disease. Study using secondary data obtained from electronic records of clinical history. Haemoglobin A1c, blood pressure, LDL cholesterol, smoking and medication were covered. n=49,658 RESULTS: The proportion of patients with diabetes achieving cardiovascular goals (among those with recent measurement) was: haemoglobin A1c 68.8% (CI95%:68.2%-69.4%), blood pressure 74.3% (CI95%:73.9%-74.7%), LDL cholesterol 59.8% (CI95%:59.0%-60.6%), tobacco 80.2% (CI95%:79.6%-80.8%). Only 40%-67% of patients has recent measurement. Only 48.0% (CI95%: 46.6%-49.4%) of patients who needed statins were receiving them. Higher proportion of patients with cardiovascular disease were achiving goals. Differences were small but significant. Cardiovascular goals were measured in around half of patients with diabetes. Proportion of patients achiving cardiovascular goals were similar to published and best in patients with cardiovascular disease but it could improve. This points to prioritising interventions in this group of patients at very high risk, improving the implementation of guidelines and patient adherence. Copyright © 2015 SESPAS. Published by Elsevier Espana. All rights reserved.

  10. Cell-type-specific, Aptamer-functionalized Agents for Targeted Disease Therapy

    Directory of Open Access Journals (Sweden)

    Jiehua Zhou

    2014-01-01

    Full Text Available One hundred years ago, Dr. Paul Ehrlich popularized the “magic bullet” concept for cancer therapy in which an ideal therapeutic agent would only kill the specific tumor cells it targeted. Since then, “targeted therapy” that specifically targets the molecular defects responsible for a patient's condition has become a long-standing goal for treating human disease. However, safe and efficient drug delivery during the treatment of cancer and infectious disease remains a major challenge for clinical translation and the development of new therapies. The advent of SELEX technology has inspired many groundbreaking studies that successfully adapted cell-specific aptamers for targeted delivery of active drug substances in both in vitro and in vivo models. By covalently linking or physically functionalizing the cell-specific aptamers with therapeutic agents, such as siRNA, microRNA, chemotherapeutics or toxins, or delivery vehicles, such as organic or inorganic nanocarriers, the targeted cells and tissues can be specifically recognized and the therapeutic compounds internalized, thereby improving the local concentration of the drug and its therapeutic efficacy. Currently, many cell-type-specific aptamers have been developed that can target distinct diseases or tissues in a cell-type-specific manner. In this review, we discuss recent advances in the use of cell-specific aptamers for targeted disease therapy, as well as conjugation strategies and challenges.

  11. Impact of smoking on disease severity in patients with plaque type psoriasis

    Directory of Open Access Journals (Sweden)

    Nuriye Kayıran

    2015-12-01

    Full Text Available Background and Design: Psoriasis is a chronic enflammatory systemic disease involving skin, scalp, nails and joints and is characterized by remission and activation periods. Although the etiopathogenesis of psoriasis has not been fully elucidated, many genetic and environmental factors are believed to have a role in the development of the disease. Obesity, smoking, family history of psoriasis, repetitive physical traumas and stress are the factors thought to affect the severity and progress of the disease. In this study, we aimed to investigate the effects of smoking on the clinical severity of psoriasis in patients with chronic plaque psoriasis. Materials and Methods: Three hundred outpatients with chronic plaque-type psoriasis were enrolled in the study. Data on age, gender, family history, smoking history, educational status, history of chronic illness, and psoriasis area severity index (PASI scores were recorded for each patient. The effects of these factors on PASI were evaluated. Results: Current smokers, never smokers and former smokers were compared in terms of disease severity. The median PASI values of current smokers and never smokers were compared. The mean PASI value was statistically significantly higher in smokers (p=0.049. In multiple logistic regression analysis, it was detected that the risk of moderate and severe disease increased by male sex 2 times, by family history 2.3 times, and by smoking period above 20 years, 10 times. In smokers of more than 1 pack a day, this risk further increased. Conclusion: On the basis of these data, it may be concluded that smoking affects the severity of disease significantly. In addition to amount of daily cigarette consumption, smoking period was shown to have an effect on the severity of disease. Elimination of risk factors such as smoking, which appears to increase the severity of diseases, may be helpful in the management of psoriasis.

  12. The role of advanced glycation end products in various types of neurodegenerative disease: a therapeutic approach.

    Science.gov (United States)

    Salahuddin, Parveen; Rabbani, Gulam; Khan, Rizwan Hasan

    2014-09-01

    Protein glycation is initiated by a nucleophilic addition reaction between the free amino group from a protein, lipid or nucleic acid and the carbonyl group of a reducing sugar. This reaction forms a reversible Schiff base, which rearranges over a period of days to produce ketoamine or Amadori products. The Amadori products undergo dehydration and rearrangements and develop a cross-link between adjacent proteins, giving rise to protein aggregation or advanced glycation end products (AGEs). A number of studies have shown that glycation induces the formation of the β-sheet structure in β-amyloid protein, α-synuclein, transthyretin (TTR), copper-zinc superoxide dismutase 1 (Cu, Zn-SOD-1), and prion protein. Aggregation of the β-sheet structure in each case creates fibrillar structures, respectively causing Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, familial amyloid polyneuropathy, and prion disease. It has been suggested that oligomeric species of glycated α-synuclein and prion are more toxic than fibrils. This review focuses on the pathway of AGE formation, the synthesis of different types of AGE, and the molecular mechanisms by which glycation causes various types of neurodegenerative disease. It discusses several new therapeutic approaches that have been applied to treat these devastating disorders, including the use of various synthetic and naturally occurring inhibitors. Modulation of the AGE-RAGE axis is now considered promising in the prevention of neurodegenerative diseases. Additionally, the review covers several defense enzymes and proteins in the human body that are important anti-glycating systems acting to prevent the development of neurodegenerative diseases.

  13. Genetic basis of dyslipidemia in disease precipitation of coronary artery disease (CAD) associated type 2 diabetes mellitus (T2DM).

    Science.gov (United States)

    Raj, Resal; Bhatti, Jasvinder Singh; Badada, Sanjay Kumar; Ramteke, Pramod W

    2015-10-01

    Type 2 diabetes mellitus (T2DM) and its complications are linked to environmental, clinical, and genetic factors. This review analyses the disorders of lipids and their genetics with respect to coronary artery disease (CAD) associated with T2DM. Cell organelles, hepatitis C-virus infection, reactive oxygen species produced in mitochondria, and defective insulin signaling due to the arrest of G1 phase to S phase transition of β-cells have significant roles in the precipitation of the diseases. Adiponectin is anti-inflammatory and anti-atherosclerotic and improves insulin resistance. Low-density lipoprotein (LDL) is atherosclerotic, and LDL-cholesterol in T2DM is associated with high-cardiovascular risk. Further, LDL cholesterol reduction significantly reduces cardiovascular morbidity and mortality. High-density lipoprotein (HDL) is also anti-atherosclerotic due to HDL associated paraoxonase-1 serum enzyme, which prevents LDL oxidative modifications and the development of CAD. Moreover, elevated apolipoprotein B and apolipoprotein A-I (ApoB/ApoA-I) ratio in plasma is also a risk factor for CAD. LDL receptor, adiponectin, and endocannabinoid receptor-1 genes are independently associated with CAD and T2DM. Polymorphism of Apo E2 (epsilon2) is a positive factor to increase the T2DM risk and Apo E4 (epsilon4) is a negative factor to reduce the disease risk. Taq 1B polymorphism of cholesterol ester transfer protein (CETP) gene contributes to the development of atherosclerosis, whereas haplotypes of APOA5, APOC3, APOC4, and APOC5 genes are in the same cluster and are independently associated with high plasma triglyceride level, CAD and T2DM. In conclusion, because various genes, LDLR, CETP, APOA5, Apo E, Apo B, and Apo A-I, are associated with the precipitation of CAD associated with T2DM, a personalized diet-gene intervention therapy may be advocated to reduce the disease precipitation. Copyright © 2014 John Wiley & Sons, Ltd.

  14. Parenting goals: predictors of parent involvement in disease management of children with type 1 diabetes.

    Science.gov (United States)

    Robinson, Elizabeth M; Iannotti, Ronald J; Schneider, Stefan; Nansel, Tonja R; Haynie, Denise L; Sobel, Douglas O

    2011-09-01

    The purpose of this study was to develop a measure of diabetes-specific parenting goals for parents of children with type 1 diabetes and to examine whether parenting goals predict a change in parenting involvement in disease management. An independent sample of primary caretakers of 87 children aged 10 to 16 years with type 1 diabetes completed the measure of parenting goals (diabetes-specific and general goals); both parent and child completed measures of parent responsibility for diabetes management at baseline and 6 months. Parents ranked diabetes-specific parenting goals as more important than general parenting goals, and rankings were moderately stable over time. Parenting goals were related to parent responsibility for diabetes management. The relative ranking of diabetes-specific parenting goals predicted changes in parent involvement over 6 months, with baseline ranking of goals predicting more parental involvement at follow-up. Parenting goals may play an important role in family management of type 1 diabetes.

  15. Clinical potential of eliglustat tartrate in the treatment of type 1 Gaucher disease

    Directory of Open Access Journals (Sweden)

    Kaplan P

    2014-05-01

    Full Text Available Paige KaplanLysosomal Disorders Center, Section of Metabolic Diseases, Children's Hospital of Philadelphia, Philadelphia, PA, USAAbstract: Nonneuropathic type 1 Gaucher disease is an autosomal recessive inherited disease caused by the deficiency or absence of beta glucocerebrosidase (beta glucosidase. The highest prevalence of type 1 is in Ashkenazi Jews, but it affects all ethnic groups. It manifests at any age but is seen predominantly in the first two decades. The phenotype is characterized by painless splenomegaly and secondary hypersplenism (low hemoglobin concentration and low platelet and white blood cell counts. Symptoms and signs include splenomegaly; chronic fatigue, frequent nose bleeds, prolonged bleeding, and/or bruising; hepatomegaly; bone pain, bone destruction and low bone density; and poor growth in childhood and delayed pubertal development. Current treatment with intravenous enzyme replacement has been generally successful. However, oral treatments have been developed because enzyme replacement is time-consuming and invasive, and intravenous infusions are not universally available for patients who live far from medical centers or home infusion nurses. Furthermore, it may become difficult to access veins after repeated infusions. Orally administered substrate reduction is a newer treatment approach. The aim is to limit the synthesis of the substrate, glucosylceramide. The residual intrinsic enzyme, acting alone or with recombinant enzyme, can then completely catabolize the smaller amounts of glucosylceramide that are transported into lysosomes. Eliglustat tartrate is a new specific inhibitor of glucosylceramide synthase. Phase III trials in humans have been completed. Eliglustat tartrate has been shown to be efficacious and safe in adult humans. The results are as good or better compared with intravenous replacement with regard to reductions in spleen and liver enlargement and improvements in hemoglobin concentrations, platelet

  16. Pseudo (Platelet-type von Willebrand disease in pregnancy: a case report

    Directory of Open Access Journals (Sweden)

    Grover Neetu

    2013-01-01

    Full Text Available Abstract Background Pseudo (platelet-type-von Willebrand disease is a rare autosomal dominant bleeding disorder caused by an abnormal function of the glycoprotein lb protein; the receptor for von Willebrand factor. This leads to an increased removal of VWF multimers from the circulation as well as platelets and this results in a bleeding diathesis. Worldwide, less than 50 patients are reported with platelet type von Willebrand disease (PT-VWD. Case presentation We describe the management of platelet type von Willebrand disease in pregnancy of a 26 year old Caucasian primigravida. The initial diagnosis was made earlier following a significant haemorrhage post tonsillectomy several years prior to pregnancy. The patient was managed under a multidisciplinary team which included obstetricians, haematologists, anaesthetists and neonatologists. Care plans were made for the ante- natal, intra-partum and post-partum periods in partnership with the patient. The patient’s platelet count levels dropped significantly during the antenatal period. This necessitated the active exclusion of other causes of thrombocytopenia in pregnancy. A vaginal delivery was desired and plans were made for induction of labour at 38 weeks of gestation with platelet cover in view of the progressive fall of the platelet count. The patient however went into spontaneous labour on the day of induction. She was transfused two units of platelets before delivery. She had an unassisted vaginal delivery of a healthy baby. The successful antenatal counselling has encouraged the diagnosis of the same condition in her mother and sister. We found this to be a particularly interesting case as well as challenging to manage due to its rarity. Psuedo von Willebrand disease in pregnancy can be confused with a number of other differential diagnoses, such as gestational thrombocutopenia, idiopathatic thrombocytopenia, thrombotic thrombocytopenic purpura and pre-eclampsia; all need consideration

  17. Effect of VSL#3 Probiotic in a Patient with Glycogen Storage Disease Type Ia and Irritable Bowel Disease-like Disease.

    Science.gov (United States)

    Carnero-Gregorio, Miguel; Molares-Vila, Alberto; Corbalán-Rivas, Alberte; Villaverde-Taboada, Carlos; Rodríguez-Cerdeira, Carmen

    2018-02-13

    Gut Inflammatory bowel disease (IBD) is a group of chronic gastrointestinal disorders characterised by relapsing and remitting inflammation of the gastrointestinal tract. The two most common types of IBDs are ulcerative colitis and Crohn's disease. Patients with glycogen storage disease (GSD) type Ia present with gastrointestinal symptoms such as recurrent abdominal pain, bloating and changes in stool form or frequency, which is clinically difficult to distinguish from IBD. We report the case of a 36-year-old man with GSD type Ia and IBD-like disease. A commercial probiotic (VSL#3®) was chosen as a nutritional supplement treatment because of its high content of microbial species and strains. Three different tests were performed: normal-dose, no-dose and half-dose tests. The study periods for the normal-dose, no-dose and half-dose tests were 4 weeks from the treatment initiation, 72 h from the end of the previous period and 4 weeks to 6 months after the end of the 72-h period, respectively. When the probiotic treatment was stopped, he experienced several symptoms similar to those before the start of the treatment. The intestinal symptoms were less severe with the half-dose nutritional supplement treatment than with no treatment. Probiotics may reduce the number of irritable gut episodes and improve the patient's well-being and overall quality of life. More studies are needed to determine whether the improvement in more severe cases of GSD is due mainly to changes in the composition of the gut microbiota, as in this patient.

  18. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

    Science.gov (United States)

    Scarpa, Maurizio; Almássy, Zsuzsanna; Beck, Michael; Bodamer, Olaf; Bruce, Iain A; De Meirleir, Linda; Guffon, Nathalie; Guillén-Navarro, Encarna; Hensman, Pauline; Jones, Simon; Kamin, Wolfgang; Kampmann, Christoph; Lampe, Christina; Lavery, Christine A; Teles, Elisa Leão; Link, Bianca; Lund, Allan M; Malm, Gunilla; Pitz, Susanne; Rothera, Michael; Stewart, Catherine; Tylki-Szymańska, Anna; van der Ploeg, Ans; Walker, Robert; Zeman, Jiri; Wraith, James E

    2011-11-07

    Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

  19. Systematic review of psychiatric signs in Niemann-Pick disease type C.

    Science.gov (United States)

    Bonnot, Olivier; Klünemann, Hans-Hermann; Velten, Christian; Torres Martin, Juan Vicente; Walterfang, Mark

    2018-03-12

    We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: (1) time of occurrence of psychiatric manifestations relative to other disease manifestations; and (2) frequent combinations of psychiatric, neurological and visceral disease manifestations. A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015. Of 152 identified publications 40 were included after screening that contained useable data from 58 NPC patients (mean [SD] age at diagnosis of NPC 27.8 [15.1] years). Among patients with available data, cognitive, memory and instrumental impairments were most frequent (90% of patients), followed by psychosis (62%), altered behavior (52%) and mood disorders (38%). Psychiatric manifestations were reported before or at neurological disease onset in 41 (76%) patients; organic signs (e.g., hepatosplenomegaly, hearing problems) were reported before psychiatric manifestations in 12 (22%). Substantial delays to diagnosis were observed (5-6 years between psychiatric presentation and NPC diagnosis). NPC should be considered as a possible cause of psychiatric manifestations in patients with an atypical disease course, acute-onset psychosis, treatment failure, and/or certain combinations of psychiatric/neurological/visceral symptoms.

  20. Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).

    Science.gov (United States)

    Farah, Benjamin L; Sinha, Rohit A; Wu, Yajun; Singh, Brijesh K; Lim, Andrea; Hirayama, Masahiro; Landau, Dustin J; Bay, Boon Huat; Koeberl, Dwight D; Yen, Paul M

    2017-03-20

    Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically, GSDIa is characterized by fasting hypoglycaemia and hepatic glycogen and triglyceride overaccumulation. The latter leads to steatohepatitis, cirrhosis, and the formation of hepatic adenomas and carcinomas. Currently, little is known about the function of various organelles and their impact on metabolism in GSDIa. Accordingly, we investigated mitochondrial function in cell culture and mouse models of GSDIa. We found impairments in oxidative phosphorylation and changes in TCA cycle metabolites, as well as decreased mitochondrial membrane potential and deranged mitochondrial ultra-structure in these model systems. Mitochondrial content also was decreased, likely secondary to decreased mitochondrial biogenesis. These deleterious effects culminated in the activation of the mitochondrial apoptosis pathway. Taken together, our results demonstrate a role for mitochondrial dysfunction in the pathogenesis of GSDIa, and identify a new potential target for the treatment of this disease. They also provide new insight into the role of carbohydrate overload on mitochondrial function in other hepatic diseases, such as non-alcoholic fatty liver disease.

  1. Predicting disease-related subnetworks for type 1 diabetes using a new network activity score.

    Science.gov (United States)

    Gao, Shouguo; Jia, Shuang; Hessner, Martin J; Wang, Xujing

    2012-10-01

    In this study we investigated the advantage of including network information in prioritizing disease genes of type 1 diabetes (T1D). First, a naïve Bayesian network (NBN) model was developed to integrate information from multiple data sources and to define a T1D-involvement probability score (PS) for each individual gene. The algorithm was validated using known functional candidate genes as a benchmark. Genes with higher PS were found to be more likely to appear in T1D-related publications. Next a new network activity metric was proposed to evaluate the T1D relevance of protein-protein interaction (PPI) subnetworks. The metric considered the contribution both from individual genes and from network topological characteristics. The predictions were confirmed by several independent datasets, including a genome wide association study (GWAS), and two large-scale human gene expression studies. We found that novel candidate genes in the T1D subnetworks showed more significant associations with T1D than genes predicted using PS alone. Interestingly, most novel candidates were not encoded within the human leukocyte antigen (HLA) region, and their expression levels showed correlation with disease only in cohorts with low-risk HLA genotypes. The results suggested the importance of mapping disease gene networks in dissecting the genetics of complex diseases, and offered a general approach to network-based disease gene prioritization from multiple data sources.

  2. Calendar Ageing of LiFePO4/C Batteries in the Second Life Applications

    DEFF Research Database (Denmark)

    Swierczynski, Maciej Jozef; Stroe, Daniel-Ioan; Kær, Søren Knudsen

    2017-01-01

    of the battery systems in the second life application are still unknown what brings significant economic risk and hinders second life battery usage. This work investigates the capacity and power degradation of the 2.5Ah nanophosphate LiFePO4/C cells under different the second life calendar ageing regimes....

  3. Evaluation plan for a cardiological multi-media workstation (I4C project)

    NARCIS (Netherlands)

    Hofstede, J.W. van der; Quak, A.B.; Ginneken, A.M. van; Macfarlane, P.W.; Watson, J.; Hendriks, P.R.; Zeelenberg, C.

    1997-01-01

    The goal of the I4C project (Integration and Communication for the Continuity of Cardiac Care) is to build a multi-media workstation for cardiac care and to assess its impact in the clinical setting. This paper describes the technical evaluation plan for the prototype.

  4. TEM characterization of La/B4C multilayer systems by the geometric phase method

    NARCIS (Netherlands)

    Häussler, D.; Spiecker, E.; Yang, S.; Jäger, W.; Störmer, M.; Bormann, R.; Zwicker, G.

    2005-01-01

    New La/B4C multilayer systems with layer thicknesses in the nanometer range have been deposited onto structured silicon (001) surfaces by magnetron sputtering and have been characterized by transmission electron microscopy (TEM). By applying a geometric phase method which has been originally

  5. The preparation and characterisation of [Co(py) 4 C 7 H 4 SO 3 )NCI ...

    African Journals Online (AJOL)

    Abstract. A 1:1 complex of [Co(py)4Cl2]CI with sodium saccharide 1 has been synthesized and characterized as trans-[Co(py)4C7H4S03NCI]CI.H2O by a combination of UV-Vis spectroscopy, 1H NMR, IR and elemental analysis.

  6. Characterization of Al–Al4C3 nanocomposites produced by mechanical milling

    International Nuclear Information System (INIS)

    Santos-Beltrán, A.; Goytia-Reyes, R.; Morales-Rodriguez, H.; Gallegos-Orozco, V.; Santos-Beltrán, M.; Baldenebro-Lopez, F.; Martínez-Sánchez, R.

    2015-01-01

    In this work, a mixture of Al–C–Al 4 C 3 nanopowder previously synthesized by mechanical milling and subsequent thermal treatment was used to reinforce the Al matrix. The nanocomposites were fabricated via high-energy ball milling and subsequent sintering process for different periods of time at 550 °C. Hardness and compression tests were performed to evaluate the mechanical properties of the nanocomposites in the as-milled and sintered conditions. According to the results the reinforcement located in the grain boundaries is responsible for the brittle behavior observed in the nanocomposites during the compression test. The combined effect of sintering and precipitation mechanisms produced an evident increase of the strength of the Al matrix at a relatively short sintering time. By using the Rietveld method the crystallite size and microstrain measurements were determined and correlated with the microhardness values. For the proper characterization of the nanoparticles present in the Al matrix, atomic force microscopy and high resolution electron microscopy were used. - Highlights: • Nanostructured Al 4 C 3 reinforcement was fabricated via mechanical milling and heat treatment. • We found a significant increase of the mechanical properties at short sintering times. • The formation of Al 4 C 3 with during sintering time restricted the excessive growth of the crystallite. • Al 4 C 3 located in the grain boundaries causes brittle fracture observed in compression tests. • There is a correlation between, crystallite size and microstrain values with microhardness

  7. Preparation and electrochemical properties of LiFePO4/C composite ...

    Indian Academy of Sciences (India)

    Abstract. Three kinds of LiFePO4/C composites for lithium-ion batteries were prepared by solid-state re- action. The crystalline structure, morphology and specific surface area of the composites were investigated by. X-ray diffraction, scanning electron microscopy and multi-point Brunauer, Emmett and Teller. The results.

  8. Gaseous swelling of B4C and UO2 fuel: similarities and differences

    International Nuclear Information System (INIS)

    Evdokimov, I.; Khoruzhii, O.; Kourtchatov, S.; Likhanskii, V.; Matweev, L.

    2001-01-01

    A major factor limiting the resource of control rods (CRs) for WWER-1000 reactors is their radiation damage. Radiation induced embrittlement of the CRs cladding, core swelling and gaseous internal pressure in CRs result in mechanical core-cladding interaction. This work is devoted to the physical analysis of processes that control the structural changes in neutron absorber elements with B 4 C under irradiation in water reactors. Particularly, the analysis of mechanisms of the helium porosity formation in B 4 C is undertaken. In view of the deficiency of experimental data on the subject, a fruitful approach to the problem is a comparative analysis of the swelling mechanisms in B 4 C absorber and UO 2 fuel. Using this similarity a phenomenological model of fission gas behavior in boron carbide is proposed. The model predictions for radial profile of 10 B burnup under influence of thermal and epithermal neutrons are compared with experimental results. The main results show that despite the external similarity of the process of fission gas accumulation in UO 2 and in B 4 C, phenomenology of gaseous swelling is much different for the fuel and the CR core. The reason for that difference is the distinction of physical conditions in irradiated fuel and CR core

  9. A refined method for molecular typing reveals that co-occurrence of PrPSc types in Creutzfeldt-Jakob disease is not the rule

    NARCIS (Netherlands)

    Notari, S.; Capellari, S.; Langeveld, J.P.M.; Giese, A.; Strammiello, R.; Gambetti, P.; Kretzschmar, H.A.; Parchi, P.

    2007-01-01

    Molecular typing in Creutzfeldt¿Jakob disease (CJD) relies on the detection of distinct protease-resistant prion protein (PrPSc) core fragments, which differ in molecular mass or glycoform ratio. However, the definition and correct identification of CJD cases with a co-occurrence of PrPSc types

  10. Development of a Coronary Heart Disease Risk Prediction Model for Type 1 Diabetes: The Pittsburgh CHD in Type 1 Diabetes Risk Mode

    NARCIS (Netherlands)

    Zgibor, J.C.; Ruppert, K.; Orchard, T.J.; Soedamah-Muthu, S.S.; Fuller, J.H.; Chaturvedi, N.; Roberts, M.S.

    2010-01-01

    Aim - To create a coronary heart disease (CHD) risk prediction model specific to type 1 diabetes. Methods - Development of the model used data from the Pittsburgh Epidemiology of Diabetes Complications Study (EDC). EDC subjects had type 1 diabetes diagnosed between 1950 and 1980, received their

  11. Prevalence of Sensory Neuropathy in Type 2 Diabetes Mellitus and Its Correlation with Duration of Disease.

    Science.gov (United States)

    Karki, D B; Yadava, S K; Pant, S; Thusa, N; Dangol, E; Ghimire, S

    2016-01-01

    Background Peripheral neuropathy is one of the most common and distressing late complication of diabetes mellitus. Ignorance of the complications may develop foot ulcers and gangrene requiring amputation. Objective The main objective of this study is to find out the prevalence of sensory neuropathy in type 2 diabetes mellitus and to compare it with the duration of disease. Method Two hundred seventy one patients with type 2 diabetes mellitus of both gender age 30 years and above willing to participate were included in this study. Patients having hypothyroidism, rheumatoid arthritis, B12 deficiency, cerebrovascular disease, chronic musculoskeletal disease, Parkinson's disease, alcohol abuse, chronic renal or liver failure and cancer were excluded from the study. Touch, pin prick and vibration sensation were tested. Vibration perception threshold was recorded from six different sites of the sole of each foot using Biothesiometer. Result Two hundreds seventy one type 2 diabetic outpatients were studied. The mean age was 59.81±22.85 years. The overall prevalence of diabetic sensory neuropathy in the study population was 58.70%. A rising trend of diabetic sensory neuropathy with increasing age and duration of diabetes was observed. Neuropathy was found more in patients having urinary microalbuminuria. Burning and pins and needles sensation were most common symptoms. Conclusion The overall prevalence of diabetic sensory neuropathy in the study population was 58.70% (mean age 59.81±22.85 yrs), and its prevalence increased with duration of diabetes and increasing age. Its prevalence was found more in patients having microalbuminuria.

  12. Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation among Human Populations, Compared to Other Diseases

    Science.gov (United States)

    Chen, Rong; Corona, Erik; Sikora, Martin; Dudley, Joel T.; Morgan, Alex A.; Moreno-Estrada, Andres; Nilsen, Geoffrey B.; Ruau, David; Lincoln, Stephen E.; Bustamante, Carlos D.; Butte, Atul J.

    2012-01-01

    Many disease-susceptible SNPs exhibit significant disparity in ancestral and derived allele frequencies across worldwide populations. While previous studies have examined population differentiation of alleles at specific SNPs, global ethnic patterns of ensembles of disease risk alleles across human diseases are unexamined. To examine these patterns, we manually curated ethnic disease association data from 5,065 papers on human genetic studies representing 1,495 diseases, recording the precise risk alleles and their measured population frequencies and estimated effect sizes. We systematically compared the population frequencies of cross-ethnic risk alleles for each disease across 1,397 individuals from 11 HapMap populations, 1,064 individuals from 53 HGDP populations, and 49 individuals with whole-genome sequences from 10 populations. Type 2 diabetes (T2D) demonstrated extreme directional differentiation of risk allele frequencies across human populations, compared with null distributions of European-frequency matched control genomic alleles and risk alleles for other diseases. Most T2D risk alleles share a consistent pattern of decreasing frequencies along human migration into East Asia. Furthermore, we show that these patterns contribute to disparities in predicted genetic risk across 1,397 HapMap individuals, T2D genetic risk being consistently higher for individuals in the African populations and lower in the Asian populations, irrespective of the ethnicity considered in the initial discovery of risk alleles. We observed a similar pattern in the distribution of T2D Genetic Risk Scores, which are associated with an increased risk of developing diabetes in the Diabetes Prevention Program cohort, for the same individuals. This disparity may be attributable to the promotion of energy storage and usage appropriate to environments and inconsistent energy intake. Our results indicate that the differential frequencies of T2D risk alleles may contribute to the observed

  13. Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.

    Directory of Open Access Journals (Sweden)

    Rong Chen

    Full Text Available Many disease-susceptible SNPs exhibit significant disparity in ancestral and derived allele frequencies across worldwide populations. While previous studies have examined population differentiation of alleles at specific SNPs, global ethnic patterns of ensembles of disease risk alleles across human diseases are unexamined. To examine these patterns, we manually curated ethnic disease association data from 5,065 papers on human genetic studies representing 1,495 diseases, recording the precise risk alleles and their measured population frequencies and estimated effect sizes. We systematically compared the population frequencies of cross-ethnic risk alleles for each disease across 1,397 individuals from 11 HapMap populations, 1,064 individuals from 53 HGDP populations, and 49 individuals with whole-genome sequences from 10 populations. Type 2 diabetes (T2D demonstrated extreme directional differentiation of risk allele frequencies across human populations, compared with null distributions of European-frequency matched control genomic alleles and risk alleles for other diseases. Most T2D risk alleles share a consistent pattern of decreasing frequencies along human migration into East Asia. Furthermore, we show that these patterns contribute to disparities in predicted genetic risk across 1,397 HapMap individuals, T2D genetic risk being consistently higher for individuals in the African populations and lower in the Asian populations, irrespective of the ethnicity considered in the initial discovery of risk alleles. We observed a similar pattern in the distribution of T2D Genetic Risk Scores, which are associated with an increased risk of developing diabetes in the Diabetes Prevention Program cohort, for the same individuals. This disparity may be attributable to the promotion of energy storage and usage appropriate to environments and inconsistent energy intake. Our results indicate that the differential frequencies of T2D risk alleles may

  14. The role of monocytes and monocyte-derived dendritic cells in type 1 diabetes mellitus and autoimmune thyroid disease

    NARCIS (Netherlands)

    W.K. Lam-Tse

    2003-01-01

    textabstractType 1 diabetes mellitus (DM1) and autoimmune thyroid disease (AITD) are organ specific autoimmune diseases in which the immune system is directed against the ß cells and the thyrocytes respectively. The etio-pathogenesis of organ-specific or endocrine autoimmune diseases is complex,

  15. Soil Moisture Active Passive Mission L4_C Data Product Assessment (Version 2 Validated Release)

    Science.gov (United States)

    Kimball, John S.; Jones, Lucas A.; Glassy, Joseph; Stavros, E. Natasha; Madani, Nima; Reichle, Rolf H.; Jackson, Thomas; Colliander, Andreas

    2016-01-01

    The SMAP satellite was successfully launched January 31st 2015, and began acquiring Earth observation data following in-orbit sensor calibration. Global data products derived from the SMAP L-band microwave measurements include Level 1 calibrated and geolocated radiometric brightness temperatures, Level 23 surface soil moisture and freezethaw geophysical retrievals mapped to a fixed Earth grid, and model enhanced Level 4 data products for surface to root zone soil moisture and terrestrial carbon (CO2) fluxes. The post-launch SMAP mission CalVal Phase had two primary objectives for each science product team: 1) calibrate, verify, and improve the performance of the science algorithms, and 2) validate accuracies of the science data products as specified in the L1 science requirements. This report provides analysis and assessment of the SMAP Level 4 Carbon (L4_C) product pertaining to the validated release. The L4_C validated product release effectively replaces an earlier L4_C beta-product release (Kimball et al. 2015). The validated release described in this report incorporates a longer data record and benefits from algorithm and CalVal refinements acquired during the SMAP post-launch CalVal intensive period. The SMAP L4_C algorithms utilize a terrestrial carbon flux model informed by SMAP soil moisture inputs along with optical remote sensing (e.g. MODIS) vegetation indices and other ancillary biophysical data to estimate global daily net ecosystem CO2 exchange (NEE) and component carbon fluxes for vegetation gross primary production (GPP) and ecosystem respiration (Reco). Other L4_C product elements include surface (10 cm depth) soil organic carbon (SOC) stocks and associated environmental constraints to these processes, including soil moisture and landscape freeze/thaw (FT) controls on GPP and respiration (Kimball et al. 2012). The L4_C product encapsulates SMAP carbon cycle science objectives by: 1) providing a direct link between terrestrial carbon fluxes and

  16. Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review.

    Science.gov (United States)

    Cup, Edith H; Pieterse, Allan J; Ten Broek-Pastoor, Jessica M; Munneke, Marten; van Engelen, Baziel G; Hendricks, Henk T; van der Wilt, Gert J; Oostendorp, Rob A

    2007-11-01

    To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD). Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews, Medline, CINAHL, EMBASE (Rehabilitation and Physical Medicine), and reference lists of reviews and articles. Randomized clinical trials (RCTs), controlled clinical trials (CCTs), and other designs were included. Study participants had to have any of the following types of NMD: motoneuron diseases, disorders of the motor nerve roots or peripheral nerves, neuromuscular transmission disorders, or muscle diseases. All types of exercise therapy and other physical therapy modalities were included. Outcome measures had to be at the level of body functions, activities, or participation according to the definitions of the International Classification of Functioning, Disability and Health (ICF). Two reviewers independently decided on inclusion or exclusion of articles and rated the methodologic quality of the studies included. All RCTs, CCTs, and other designs only if of sufficient methodologic quality were included in a best evidence synthesis. A level of evidence was attributed for each subgroup of NMD and each type of intervention. Initially 58 studies were included: 12 RCTs, 5 CCTs, and 41 other designs. After methodologic assessment, 19 other designs were excluded from further analysis. There is level II evidence ("likely to be effective") for strengthening exercises in combination with aerobic exercises for patients with muscle disorders. Level III evidence ("indications of effectiveness") was found for aerobic exercises in patients with muscle disorders and for the combination of muscle strengthening and aerobic exercises in a heterogeneous group of muscle disorders. Finally, there is level III evidence for breathing exercises for patients with myasthenia gravis and for patients with myotonic muscular dystrophy

  17. MRI bone marrow findings in 63 patients with type I Gaucher's disease

    Energy Technology Data Exchange (ETDEWEB)

    Poll, L.W. [Berufsgenossenschaftliche Unfallklinik Duisburg GmbH (Germany). Abt. Radiologie; Willers, R. [Duesseldorf Univ. (Germany). Zentrum fuer Information, Kommunikation und Medientechnologie; Haeussinger, D. [Universitaetsklinikum Duesseldorf (Germany). Klinik fuer Gastroenterologie, Hepatologie und Infektiologie; Moedder, U. [Universitaetsklinikum Duesseldorf (Germany). Inst. fuer Radiologie; Dahl, S. vom [St.-Franziskus-Hospital Koeln, Akademisches Lehrkrankenhaus der Koeln Univ. (Germany). Klinik fuer Innere Medizin.

    2010-11-15

    Purpose: To determine whether MR bone marrow findings in Gaucher patients may help to identify patients at high risk of developing severe Gaucher bone complications exemplified by avascular necrosis (AVN) of the femoral head. Materials and Methods: MR images were obtained in 63 Type I Gaucher patients through a standard protocol using coronal T1 and T2-weighted sequences of the lower extremities. The location and extent of infiltrated marrow was established using a semi-quantitative MRI scoring method (Duesseldorf Gaucher score, DGS) and the morphological pattern of bone marrow involvement determined (whether homogeneous type A or non-homogeneous type B). The active marrow process with bone edema and AVN of the femoral head were also analyzed. Results: Bone marrow involvement was observed in femoral sites more than in tibial sites. A high DGS was significantly correlated with type B morphology and femoral AVN (both p < 0.0001). Splenectomized patients showed a significantly higher Duesseldorf Gaucher score and type B morphology than non-splenectomized patients (both p < 0.05). AVN was seen in 46 % of patients with type B morphology versus 3 % in type A morphology (p < 0.0001). DGS and morphology of bone marrow involvement were not significantly correlated with active marrow processes. Conclusion: Type B marrow morphology and extensive marrow packing were significantly associated with AVN of the femoral head (both p < 0.0001). These patterns are considered predictive and may be employed in a disease management context to alert physicians to the need for urgent therapeutic measures. (orig.)

  18. Fabrication and Tribological Behavior of Stir Cast Mg/B4C Metal Matrix Composites

    Science.gov (United States)

    Singh, Amandeep; Bala, Niraj

    2017-10-01

    Magnesium-based metal matrix composites (MMMCs) have emerged as good alternative material to conventional materials due to their promising advanced properties. In the present work, magnesium-based metal matrix composites (MMMCs) reinforced with B4C particles were successfully fabricated by cost-effective conventional stir casting technique. MMMCs with an average particle size of 63 µm and different weight percent (wt pct) of B4C between 3 and 12 were fabricated. Wear tests were carried out using a pin-on-disk against a steel disk under dry sliding condition at loads that varied between 1 and 5 kg at fixed sliding velocity of 1 m/s. The wear data clearly showed that wear resistance of cast composites is better than that of unreinforced magnesium, which is attributed to dispersion hardening caused by carbide particles. An increase in wt pct of B4C showed the wear resistance and hardness to increase significantly. The wear rate and coefficient of friction increased with an increase in applied load. The SEM and EDS analysis of the worn surfaces delineated the dominant wear mechanisms to be abrasion, adhesion, and oxidation under the different sliding conditions. At lower loads, the wear mechanism transformed from severe abrasive wear in pure magnesium (Mg) to mild abrasion, slight delamination, and oxidation in the Mg/12 wt pct B4C fabricated composite. At higher loads, severe abrasion, adhesion, delamination, and oxidation were found to be the major wear mechanisms in pure Mg, whereas in the Mg/12 wt pct B4C fabricated composites the corresponding mechanisms were mild abrasion, mild adhesion, slight delamination, and oxidation.

  19. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

    Directory of Open Access Journals (Sweden)

    James E Wraith

    2009-11-01

    Full Text Available James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain. Miglustat (Zavesca®, a reversible inhibitor of glycosphingolipid synthesis, has recently been authorized in the European Union, Brazil and South Korea for the treatment of progressive neurological symptoms in adult and pediatric patients, and represents the first specific treatment for NP-C. Here we review current data on the pharmacology, efficacy, safety and tolerability of miglustat in patients with NP-C, based on findings from a prospective clinical trial, preclinical and retrospective studies, and case reports. Findings demonstrated clinically relevant beneficial effects of miglustat on neurological disease progression in adult, juvenile and pediatric patients with NP-C, particularly those diagnosed in late childhood (6–11 years and in juveniles and adults (12 years and older, compared with those diagnosed in early childhood (younger than 6 years. Miglustat therapy was well-tolerated in all age groups. With the approval of miglustat, treatment of patients with NP-C can now be aimed toward stabilizing neurological disease, which is likely the best attainable therapeutic goal for this disorder.Keywords: Niemann-Pick disease type C, NP-C, miglustat, Zavesca®

  20. Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report.

    Science.gov (United States)

    Xiao, Hua; Bian, Jianmin; Zhang, Lei; Wang, Zhaoming; Ding, Aixing

    2014-12-01

    Glycogen storage disease type Ia (GSD-Ia; also termed von Gierke disease) is an inherited metabolic disorder resulting from a glucose-6-phosphatase deficiency. Liver transplantation is considered to be the most effective treatment for GSD-Ia patients. In the present study, the case of a patient with GSD-Ia who received a liver transplantation at 17 years of age is presented. During the 12 years following transplantation, the patient's quality of life markedly improved. However, recently, the patient was diagnosed with de novo gastric cancer following a biopsy. Thus, a total gastrectomy with lymph node dissection was performed and the tumor was histologically determined to be a poorly differentiated adenocarcinoma (histopathological stage, pT4N1M0). The patient recovered well and was discharged on postoperative day 10 without any complications. To the best of our knowledge, this is the first case of de novo gastric cancer in a patient with GSD-Ia to be reported.

  1. Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes

    DEFF Research Database (Denmark)

    Brorsson, Caroline Anna; Pociot, Flemming

    2015-01-01

    Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim of this s......Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim...... of this study was to investigate whether susceptibility loci identified in genome-wide association studies (GWAS) of T1D were also associated with autoantibody positivity in individuals with diabetes. Fifty single nucleotide polymorphisms (SNPs) were genotyped in 6,556 multiethnic cases collected by the Type 1...

  2. Impact of Education on Disease Knowledge and Glycaemic Control Among Type 2 Diabetic Patients in Family Practice

    OpenAIRE

    Samira Herenda; Husref Tahirović; Džemal Poljaković

    2007-01-01

    In patients with diabetes type 2, good knowledge about disease often doesn’t follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disea...

  3. Association between erectile dysfunction and cardiovascular risk in individuals with type-2 diabetes without overt cardiovascular disease

    OpenAIRE

    Meena, Babu Lal; Kochar, Dhanpat Kumar; Agarwal, Tulsi Das; Choudhary, Raghvendra; Kochar, Abhishek

    2009-01-01

    Background: Erectile dysfunction in type-2 diabetes may be an independent marker for coronary artery disease. Present study was undertaken to investigate whether type-2 diabetic patients with erectile dysfunction without having overt cardiovascular disease had increased cardiovascular risk. Aim: To find out correlation between ED and cardiovascular risk in diabetic patients. Methods: Fifty type-2 diabetic patients were assessed for erectile dysfunction using international index of erectile dy...

  4. Periodontal disease in gestational and type 1 diabetes mellitus pregnant women.

    Science.gov (United States)

    Ruiz, D R; Romito, G A; Dib, S A

    2011-07-01

    The present study evaluated the relationship between periodontal disease and its clinical variables in Brazilian non-diabetic pregnant women (C), gestational diabetes mellitus (GDM), or type 1 diabetes mellitus (T1DM). A periodontal exam was performed in one hundred and sixty-one pregnant women (GDM:80; T1DM:31; C:50) by a single-blinded calibrated examiner who recorded plaque index (PI), gingival index (GI), bleeding index (BI), gingival margin location (GM), probing depth (PD), clinical attachment level (CAL), bleeding on probing (BOP), and tooth mobility index (MI). The medical variables were age, pregestational body mass index (pre-BMI), fasting plasma glucose (FPG), and glycated hemoglobin (HbA(1c) ). The GI, GM, PD, CAL, BOP, and MI were significantly higher (P periodontal parameters confirmed these results. The presence of periodontal disease was significantly higher in Brazilian diabetic pregnancies (GDM and T1DM) when compared to non-diabetic pregnant women (C). The degree of periodontal disease was similar between the GDM and T1DM groups. Age, pregestational BMI, and HbA(1c) were factors related to CAL development in these two types of diabetes mellitus. © 2011 John Wiley & Sons A/S.

  5. Heteroduplex analysis: a useful screening method for glycogen storage disease type Ia.

    Science.gov (United States)

    Narita, T; Tsuruta, Y; Chiba, K

    1998-04-01

    Glycogen storage disease type Ia (GSDIa), also known as von Gierke disease, is the most common and severe disease of glycogenoses and is caused by a deficiency of glucose-6-phosphatase (G6Pase) and transmitted by an autosomal recessive trait. The encoding gene of G6Pase is composed of only five exons and each exon is short. With heteroduplex analysis (HDA) method, we analyzed the genomic DNA from a patient diagnosed with GSDIa and from her parents. Exons II and IV of the patient showed heteroduplex bands. The mother had a heteroduplex band of exon II, and the father had a heteroduplex band of exon IV. In a mini-slab electrophoresis, exons II and IV of the patient did not show clear heteroduplex bands, but they appeared broader than the others, which made us suspect that they were heteroduplex bands. HDA is an easy and simple method and can verify mutant homozygous DNA fragments by adding wild-type DNA. We think that HDA may be a very useful screening method for the detection of novel genomic mutation in GSDIa in large-scale and mini-slab electrophoresis.

  6. Ficolin B in Diabetic Kidney Disease in a Mouse Model of Type 1 Diabetes

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    Charlotte Berg Holt

    2015-01-01

    Full Text Available Background. The innate immune system may have adverse effects in diabetes and cardiovascular disease. The complement system seems to play a key role through erroneous complement activation via hyperglycaemia-induced neoepitopes. Recently mannan-binding lectin (MBL was shown to worsen diabetic kidney changes. We hypothesize that mouse ficolin B exerts detrimental effects in the diabetic kidney as seen for MBL. Methods. We induced diabetes with streptozotocin in female wild-type mice and ficolin B knockout mice and included two similar nondiabetic groups. Renal hypertrophy and excretion of urinary albumin and creatinine were quantified to assess diabetic kidney damage. Results. In the wild-type groups, the kidney weighed 24% more in the diabetic mice compared to the controls. The diabetes-induced increase in kidney weight was 29% in the ficolin B knockout mice, that is, equal to wild-type animals (two-way ANOVA, P=0.60. In the wild-type mice the albumin-to-creatinine ratio (ACR was 32.5 mg/g higher in the diabetic mice compared to the controls. The difference was 62.5 mg/g in the ficolin B knockout mice, but this was not significantly different from the wild-type animals (two-way ANOVA, P=0.21. Conclusions. In conclusion, the diabetes-induced effects on kidney weight and ACR were not modified by the presence or absence of ficolin B.

  7. Does Parkinson's disease and type-2 diabetes mellitus present common pathophysiological mechanisms and treatments?

    Science.gov (United States)

    Lima, Marcelo M S; Targa, Adriano D S; Noseda, Ana C D; Rodrigues, Lais S; Delattre, Ana Marcia; dos Santos, Fabiola V; Fortes, Mariana H; Maturana, Maira J; Ferraz, Anete C

    2014-04-01

    Parkinson's disease (PD) is the second most common neurodegenerative disease afflicting about 1% of people over 65 years old and 4-5% of people over 85 years. It is proposed that a cascade of deleterious factors is set in motion within that neuron made not of one, but rather of multiple factors such as free radicals, excitotoxicity, neuroinflammation, and apoptosis to cite only some of the most salient. In this scenario, chronic systemic inflammation, as well as impaired mitochondrial metabolism, have also been suspected of playing a role in the development of type-2 diabetes, and the possibility of a shared pathophysiology of PD and type-2 diabetes has been proposed. The discussion about the interactions between PD and type-2 diabetes mellitus began in the 1960's and there is still controversy. Insulin and dopamine may exert reciprocal regulation hence; hypoinsulinemia induced by streptozotocin decreased the amounts of dopamine transporter and tyrosine hydroxylase transcripts in the substantia nigra pars compacta. Accordingly, dopamine depletion in the striatum is able to decreases insulin signaling in basal ganglia, indicating that, perhaps, PD may be considered as a risk factor for the development of type-2 diabetes mellitus. In this sense, it is described that peroxisome proliferator-activated receptor-γ, ATP-sensitive K(+) channels, AMP-activated protein kinase, glucagon-like peptide-1 and dipeptidyl peptidase-4 are important therapeutic targets for PD and reinforces the association with diabetes. Therefore, the objective of the present review is to contextualize the mutual pathophysiological interactions between PD and type-2 diabetes mellitus, as well as the potential common treatments.

  8. Risk factors for periodontal diseases among Yemeni type II diabetic patients. A case-control study.

    Directory of Open Access Journals (Sweden)

    Anas Shamala

    2017-08-01

    Full Text Available Background: Chronic periodontal diseases are one of diabetes mellitus complications. The present study aims to compare the periodontal status of type II diabetic patients to a control group and assess the role of risk factors in both groups. Materials and methods: A case-control study was conducted of 270 individuals (132 type II diabetics and 138 non-diabetics. Full mouth periodontal examination including plaque index, gingival bleeding, gingival recession, clinical attachment loss (CAL, tooth mobility, furcation involvement and the number of missing teeth. The case group was subdivided according to glycosylated hemoglobin (HbA1c status (poorly controlled HbA1c >8 and well controlled HbA1c≤8 Likewise, the duration of diabetes mellitus as short or long duration (DM≤10 or >10. The diabetic group was also subdivided according to smoking and Khat chewing habits. Result: The severity of periodontal disease among type II diabetic patients were significantly higher compared to the control group regarding the plaque index 2.6 (1.6-4.3, bleeding on probing 3.5 (2.3-13.0, gingival recession 2.0 (1.2-3.4, furcation involvement 4.0 (2.3-6.7, clinical attachment loss 5.7 (3.1-10.5, tooth mobility 2.0 (1.2-3.4, and number of missing teeth 4.4 (2.3-8.5. In addition, poorly controlled type II DM and long duration had higher CAL and number of missing teeth than well-controlled DM and short duration. No significant differences were found between smokers/nonsmokers and Khat chewers/non-chewers among the diabetic group. Conclusion: Type II diabetic patients have severe periodontal destruction and tooth loss compared to non-diabetic people and there were no differences within the diabetic group in regards to smoking and Khat chewing habits.

  9. Comparison of the clinical course of Japanese MM1-type sporadic Creutzfeldt-Jakob disease between subacute spongiform encephalopathy and panencephalopathic-type.

    Science.gov (United States)

    Iwasaki, Yasushi; Tatsumi, Shinsui; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2014-06-01

    Approximately half of Japanese sporadic Creutzfeldt-Jakob disease (sCJD) cases show panencephalopathic-type (PE-type) pathology, which is a rare subtype in North Americans and Europeans. Until now, the differences in the clinical course between subacute spongiform encephalopathy (SSE) cases and PE-type cases have been unclear. To investigate the clinical course of both subtypes, clinical findings from 42 Japanese MM1-type sCJD cases (20 SSE cases and 22 PE-type cases) were retrospectively evaluated by statistical analysis. No significant differences could be found regarding age at disease onset, the period between disease onset and first observation of myoclonus, the period between disease onset and the first observation of periodic sharp-wave complexes on electroencephalogram, or the period between disease onset and progression to the akinetic mutism state - whereas total disease duration and the period between the akinetic mutism state and death were significantly longer in PE-type cases. The prolonged disease duration was induced by the extended survival period in the akinetic mutism state. There was a statistically significant difference between the two series regarding performance of tube-feeding, but no statistically significant difference regarding performance of tracheotomy or gastrostomy. None of the cases received mechanical ventilation. We speculate that the most crucial factor of the prolonged survival period of Japanese sCJD cases, particularly in the PE-type, is that the introduction of tube-feeding in the akinetic mutism state leads to the stabilization of the patient's general condition. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. Prevalence and clinical profile of celiac disease in children with type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Rajesh Joshi

    2015-01-01

    Full Text Available Objective: To determine the prevalence of celiac disease (CD in children with type 1 diabetes mellitus (TIDM in follow-up in a Tertiary Care Referral Centre in Western India and to describe the clinical features indicative of CD in screened patients of TIDM. Study Design: In this single center observational cross-sectional study, 71 children who were diagnosed with TIDM were subjected to screening for CD with tissue transglutaminase antibody testing. Those who tested positive were offered intestinal biopsy for the confirmation of diagnosis. Clinical profiles of both groups of patients were compared and manifestations of CD were delineated. Results: The study revealed the prevalence of CD (based on serology in children with Type 1 diabetes as 15.49%. The prevalence of biopsy-confirmed CD was 7.04%. Of the diagnosed CD patients, one-third were symptomatic at the time of screening while the majority was asymptomatic. The major clinical features indicative of CD were intestinal symptoms, anemia, rickets, and short stature. Autoimmune thyroid disease was prevalent in 29.6% of the patients with TIDM followed by CD. Conclusions: The high prevalence of CD in children with Type 1 diabetes emphasizes the need for routine screening programs to be in place for these high-risk populations. The clinical profile of patients with CD further elaborates the indicators of CD and the need to screen for them.

  11. Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease

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    Mirta Koželj

    2010-01-01

    Full Text Available There is predominate opinion among physicians managing type 1 Gauchers' disease (GD that cardiac involvement is not an issue in these patients. In order to follow this hypothesis, we prospectively investigated 15 adult imiglucerase-treated type 1 GD patients by echocardiography, Doppler, and tissue Doppler echocardiography. This was a case-controlled study with 18 matched healthy volunteers. The obtained data was correlated with the levels of NT-proBNP (brain natriuretic peptide. None of the GD patients had clinical signs of heart disease. In 3 of the 15 patients, we observed echocardiographic signs of aortic and mitral valve calcification. The left ventricular systolic function was within normal limits. Compared to the control group, there was no statistically significant difference observed in the most sensitive indices of left ventricular diastolic function, parameter Em (P=.095, and E/Em ratio (P=.097, as demonstrated by tissue Doppler echocardiography. However, there was a positive correlation between the E/Em ratio and NT-proBNP plasma levels (P=.009. In conclusion, the prospective echocardiographic study of type 1 GD patients did not validate any left ventricular dysfunction. But, the E/Em ratio showed a strong statistical correlation with the most sensitive indicators of heart failure, NT-proBNP. Research on larger groups of patients and the usage of even more sensitive methods as strain-rate imaging will be necessary to confirm eventual myocardial involvement in GD patients.

  12. Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series.

    Science.gov (United States)

    Souza, Cynthia C; Hirotsu, Camila; Neves, Eduardo L A; Santos, Lidiane C L; Costa, Iandra M P F; Garcez, Catarina A; Nunes, Paula S; Antunes, Adriano

    2015-03-15

    Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m(2)); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. © 2014 American Academy of Sleep Medicine.

  13. Neurofibromatosis type 1 and the "elephant man's" disease: the confusion persists: an ethnographic study.

    Science.gov (United States)

    Legendre, Claire-Marie; Charpentier-Côté, Catherine; Drouin, Régen; Bouffard, Chantal

    2011-02-09

    In 1986, two Canadian geneticists had demonstrated that Joseph Merrick, better known as the Elephant Man, suffered from the Proteus syndrome and not from neurofibromatosis type 1 (NF1), as was alleged by dermatologist Parkes in 1909. Despite this and although the two diseases differ at several levels: prevalence, diagnostic criteria, clinical manifestations and transmission, the confusion between NF1 and the "elephant man's" disease continues in medical and social representations by current linguistic usage, and in some media reports. With this article, we want to 1) document the persistence and extent of this fallacy, 2) identify certain critical factors that contribute to its persistence, and 3) evaluate its impact on the health and well being of patients with NF1 and their family members. Participant observation in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents - Analysis of the scientific literature and of pinpoint articles in the print and online news media. Our findings show that because physicians have little knowledge about NF1, several print and online news media and a lot of physicians continue to make the confusion between NF1 and the disease the "elephant man". This misconception contributes to misinformation about the disease, feeding prejudices against affected patients, exacerbating the negative impacts of the disease on their quality of life, their cognitive development, their reproductive choices, as well as depriving them of proper care and appropriate genetic counseling. If family physicians and pediatricians were properly informed about the disease, they could refer their patients with NF1 to NF clinics and to specialists. Thus, patients and their family members would benefit from better-tailored clinical management of their cases, perhaps even optimal management. [corrected

  14. A nanotechnological approach to the management of Alzheimer disease and type 2 diabetes.

    Science.gov (United States)

    Alam, Qamre; ZubairAlam, Mohammad; Karim, Sajjad; Gan, Siew H; Kamal, Mohammad A; Jiman-Fatani, Asif; Damanhouri, Ghazi A; Abuzenadah, Adel M; Chaudhary, Adeel G; Haque, Absarul

    2014-04-01

    Alzheimer's disease (AD) and type 2 diabetes (T2D) are both prevalent in older individuals and have gained significant attention due to alarming rates of increase. The high incidences of these diseases pose a great socioeconomic burden and cause major public health concerns worldwide. A number of studies have established potential links between AD and T2D, supporting the hypothesis that T2D is linked with an increased risk of AD and that controlling diabetes could have a positive impact on the prevention of AD. At present, both diseases lack precise diagnostic approaches for early intervention and effective cure. Further, the currently available diagnostic tools for AD screening are insufficiently sensitive and robust for preventive measures. Although several drugs are used for the treatment of both these diseases, none of these drugs offers complete remission of the disease, merely symptomatic relief. Moreover, these drugs have limited efficacy because of problems such as conventional drug delivery systems beyond the blood brain barrier, a lack of target specificity and diminished potency. From this perspective, the emerging field of nanotechnology has offered new techniques and tools to overcome these challenges. In this review, we discuss the direct and indirect limitations of existing therapies and describe alternative potential nanotechnological approaches that could be utilized to overcome these limitations. New insight in the field of nanomedicine is necessary for early diagnosis, the development of novel drug therapies, the action of drugs and prevention, as well as for gaining an in-depth understanding of the complex biology of both diseases.

  15. Circulating Endothelial Progenitor Cells in Type 1 Diabetic Patients: Relation with Patients’ Age and Disease Duration

    Directory of Open Access Journals (Sweden)

    Adolfo Arcangeli

    2017-10-01

    Full Text Available ObjectivesCirculating endothelial progenitor cells (cEPCs have been reported to be dysfunctional in diabetes mellitus (DM patients, accounting for the vascular damage and the ensuing high risk for cardiovascular disease (CVD characteristic of this disease. The aim of the present study was to evaluate the number of circulating cEPCs in type 1 DM (T1DM patients, without clinical vascular damage, of different ages and with different disease duration.MethodsAn observational, clinical-based prospective study was performed on T1DM patients enrolled in two clinical centers. cEPCs were determined by flow cytometry, determining the number of CD34/CD133/VEGFR2-positive cells within peripheral blood mononuclear cells (PBMCs.ResultsThe number of cEPCs was lower in adult T1DM patients, whilst higher in childhood/young patients, compared to controls of the same age range. When patients were grouped into two age groups (≥ or <20 years (and categorized on the basis of the duration of the disease, the number of cEPCs in young (<20 years patients was higher compared with older subjects, regardless of disease duration. A subset of patients with very high cEPCs was identified in the <20 years group.ConclusionThere is an association between the number of cEPCs and patients’ age: childhood/young T1DM patients have significantly higher levels of cEPCs, respect to adult T1DM patients. Such difference is maintained also when the disease lasts for more than 10 years. The very high levels of cEPCs, identified in a subset of childhood/young patients, might protect vessels against endothelial dysfunction and damage. Such protection would be less operative in older subjects, endowed with lower cEPC numbers, in which complications are known to develop more easily.

  16. Four-component Staphylococcus aureus vaccine 4C-staph enhances Fcγ receptor expression in neutrophils and monocytes and mitigates S. aureus infection in neutropenic mice.

    Science.gov (United States)

    Torre, Antonina; Bacconi, Marta; Sammicheli, Chiara; Galletti, Bruno; Laera, Donatello; Fontana, Maria Rita; Grandi, Guido; De Gregorio, Ennio; Bagnoli, Fabio; Nuti, Sandra; Bertholet, Sylvie; Bensi, Giuliano

    2015-08-01

    Staphylococcus aureus is a human bacterial pathogen causing a variety of diseases. The occurrence of multidrug-resistant strains of Staphylococcus aureus underlines the need for a vaccine. Defining immune correlates of protection may support the design of an effective vaccine. We used a murine Staphylococcus aureus infection model, in which bacteria were inoculated in an air pouch generated on the back of the animal. Analysis of the air-pouch content in mice immunized or not with an adjuvanted multiantigen vaccine formulation, four-component S. aureus vaccine (4C-Staph), prior to infection allowed us to measure bacteria, cytokines, and 4C-Staph-specific antibodies and to analyze host immune cells recruited to the infection site. Immunization with 4C-Staph resulted in accumulation of antigen-specific antibodies in the pouch and mitigated the infection. Neutrophils were the most abundant cells in the pouch, and they showed the upregulation of Fcγ receptor (FcγR) following immunization with 4C-Staph. Reduction of the infection was also obtained in mice immunized with 4C-Staph and depleted of neutrophils; these mice showed an increase in monocytes and macrophages. Upregulation of the FcγR and the presence of antigen-specific antibodies induced by immunization with 4C-Staph may contribute to increase bacterial opsonophagocytosis. Protection in neutropenic mice indicated that an effective vaccine could activate alternative protection mechanisms compensating for neutropenia, a condition often occurring in S. aureus-infected patients. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  17. Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

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    Sovan Sarkar

    2013-12-01

    Full Text Available Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1 disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease.

  18. Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

    Directory of Open Access Journals (Sweden)

    Mary Carmen Vázquez

    2012-01-01

    Full Text Available Niemann-Pick type C (NPC disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the accumulation of intracellular cholesterol with cell death in NPC disease in both the CNS and the liver is currently unknown. Oxidative stress has been observed in the livers and brains of NPC mice and in different NPC cellular models. Moreover, there is evidence of an elevation of oxidative stress markers in the serumof NPC patients. Recent evidence strongly suggests that mitochondrial dysfunction plays an important role in NPC pathogenesis and that mitochondria could be a significant source of oxidative stress in this disease. In this context, the accumulation of vitamin E in the late endosomal/lysosomal compartments in NPC could lead to a potential decrease of its bioavailability and could be another possible cause of oxidative damage. Another possible source of reactive species in NPC is the diminished activity of different antioxidant enzymes. Moreover, because NPC is mainly caused by the accumulation of free cholesterol, oxidized cholesterol derivatives produced by oxidative stress may contribute to the pathogenesis of the disease.

  19. Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.

    Science.gov (United States)

    Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H M; Cassady, John P; Cohen, Malkiel A; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I; Jaenisch, Rudolf

    2013-12-12

    Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  20. Improvement in both Raynaud disease and hyperhidrosis in response to botulinum toxin type A treatment.

    Science.gov (United States)

    Kossintseva, Iràn; Barankin, Benjamin

    2008-01-01

    A patient with concurrent Raynaud disease presented for hyperhidrosis of the axillae and palms. After a positive response to botulinum toxin type A (BoNTA) for axillary hyperhidrosis, she returned requesting palmar treatment. Our goal was to investigate the effect of BoNTA on Raynaud disease in concurrent hyperhidrosis with respect to color change, swelling, and digital pain. The patient had treatment with 100 units of BoNTA to one hand at first, with the other being a negative control, followed by treatment of the second hand 1 week later. After the injection into the first palm, the patient demonstrated an 85% reduction in palmar hyperhidrosis and a significant improvement in her Raynaud symptoms. Specifically, the BoNTA-treated hand had reduced swelling, color change, and pain, whereas the untreated control hand remained affected. After the second hand was treated, it, too, demonstrated the same positive results. Our case report of concurrent Raynaud disease and palmar hyperhidrosis shows significant improvement in both conditions to BoNTA administration. The physiology is multifactorial and relates to BoNTA's effect on acetylcholine, noradrenaline, substance P, calcitonin gene-related peptide, and glutamate release from nerve terminals. These results present an encouraging novel treatment option in dermatology for patients with Raynaud disease.

  1. Role of σ1 Receptors in Learning and Memory and Alzheimer's Disease-Type Dementia.

    Science.gov (United States)

    Maurice, Tangui; Goguadze, Nino

    2017-01-01

    The present chapter will review the role of σ 1 receptor in learning and memory and neuroprotection , against Alzheimer's type dementia. σ 1 Receptor agonists have been tested in a variety of pharmacological and pathological models of learning impairments in rodents these last past 20 years. Their anti-amnesic effects have been explained by the wide-range modulatory role of σ 1 receptors on Ca 2+ mobilizations, neurotransmitter responses, and particularly glutamate and acetylcholine systems, and neurotrophic factors. Recent observations from genetic and pharmacological studies have shown that σ 1 receptor can also be targeted in neurodegenerative diseases, and particularly Alzheimer's disease . Several compounds, acting partly through the σ 1 receptor, have showed effective neuroprotection in transgenic mouse models of Alzheimer's disease . We will review the data and discuss the possible mechanisms of action, particularly focusing on oxidative stress and mitochondrial integrity, trophic factors and a novel hypothesis suggesting a functional interaction between the σ 1 receptor and α 7 nicotinic acetylcholine receptor. Finally, we will discuss the pharmacological peculiarities of non-selective σ 1 receptor ligands, now developed as neuroprotectants in Alzheimer's disease , and positive modulators, recently described and that showed efficacy against learning and memory deficits.

  2. Haemophilus influenzae type b disease in Auckland children during the Hib vaccination era: 1995-2009.

    Science.gov (United States)

    Leung, Bonnie; Taylor, Susan; Drinkovic, Dragana; Roberts, Sally; Carter, Phil; Best, Emma

    2012-11-09

    To characterise Haemophilus influenzae type b (Hib) invasive disease in the era of Hib vaccination, in children of the greater Auckland region of New Zealand. Identification of sterile site culture positive Hib via the Auckland hospital laboratories databases and national laboratory surveillance database in the time period; 1995 to 2009. There were a total of 26 cases in the Auckland Region. Over the 15-year period, the annual incidence of invasive Hib disease was 0.61 per 100,000 (95% CI: 0.4-0.9) for children aged under 15 years and 1.65 per 100,000 (95% CI: 1.1-2.5) for children aged under 5 years. Ninety-two percent were under 5 years and 54% were under 1 year. Sixty percent of the children were of Maori and Pacific ethnicity. The predominant diagnosis was meningitis, accounting for 15 cases (60%). There were no fatalities. Forty-eight percent of affected children were completely unimmunised with the Hib vaccine which has been fully funded on the National Immunisation Schedule since 1994. Since the introduction of the Hib vaccine, the disease rates have greatly reduced in the Auckland region. Although ethnic disparities have improved amongst the cases that occur, immunisation rates in cases are low and infants remain most at risk. Current emphasis on intensifying immunisation programmes to achieve higher vaccination rates and timeliness of delivery will help in efforts to achieve elimination of the disease in New Zealand.

  3. Tight Junctions, Intestinal Permeability, and Autoimmunity Celiac Disease and Type 1 Diabetes Paradigms

    Science.gov (United States)

    Visser, Jeroen; Rozing, Jan; Sapone, Anna; Lammers, Karen; Fasano, Alessio

    2010-01-01

    Autoimmune diseases are characterized by tissue damage and loss of function due to an immune response that is directed against specific organs. This review is focused on celiac disease (CD), an autoimmune enteropathy, and type 1 diabetes (T1D), a hyperglycosaemia caused by a destructive autoimmune process targeting the insulin-producing pancreatic islet cells. Even if environmental factors and genetic susceptibility are clearly involved in the pathogenesis of autoimmunity, for most autoimmune disorders there is no or little knowledge about the causing agent or genetic makeup underlying the disease. In this respect, CD represents a unique autoimmune disorder because a close genetic association with HLA-DQ2 or HLA-DQ8 haplotypes and, more importantly, the environmental trigger (the gliadin fraction of gluten-containing grains wheat, barley, and rye) are known. Conversely, the trigger for autoimmune destruction of pancreatic ß cells in T1D is unclear. Interestingly, recent data suggest that gliadin is also involved in the pathogenesis of T1D. There is growing evidence that increased intestinal permeability plays a pathogenic role in various autoimmune diseases including CD and T1D. Therefore, we hypothesize that besides genetic and environmental factors, loss of intestinal barrier function is necessary to develop autoimmunity. In this review, each of these components will be briefly reviewed. PMID:19538307

  4. Celiac Disease and Pediatric Type 1 Diabetes: Diagnostic and Treatment Dilemmas

    Directory of Open Access Journals (Sweden)

    Daneman Denis

    2010-05-01

    Full Text Available Abstract Despite the advent of sensitive and specific serologic testing, routine screening for celiac disease (CD in diabetic populations may not be universal practice, and many clinicians struggle to find the optimal approach to managing CD in pediatric Type 1 diabetes (T1D patients. While some clinicians advocate screening for CD in all patients with T1D, others are unsure whether this is warranted. The diagnosis of patients who present with symptomatic CD, including malabsorption and obvious pathology upon biopsy, remains straightforward, with improvements noted on a gluten-free diet. Many patients identified by screening, however, tend to be asymptomatic. Evidence is inconclusive as to whether the benefits of screening and potentially treating asymptomatic individuals outweigh the harms of managing a population already burdened with a serious illness. This review focuses on current knowledge of CD in children and youth with T1D, highlighting important elements of the disease's pathophysiology, epidemiology, clinical presentation, and diagnostic challenges.

  5. The Role of Gluten in Celiac Disease and Type 1 Diabetes

    Science.gov (United States)

    Serena, Gloria; Camhi, Stephanie; Sturgeon, Craig; Yan, Shu; Fasano, Alessio

    2015-01-01

    Celiac disease (CD) and type 1 diabetes (T1D) are autoimmune conditions in which dietary gluten has been proven or suggested to play a pathogenic role. In CD; gluten is established as the instigator of autoimmunity; the autoimmune process is halted by removing gluten from the diet; which allows for resolution of celiac autoimmune enteropathy and subsequent normalization of serological markers of the disease. However; an analogous causative agent has not yet been identified for T1D. Nevertheless; the role of dietary gluten in development of T1D and the potentially beneficial effect of removing gluten from the diet of patients with T1D are still debated. In this review; we discuss the comorbid occurrence of CD and T1D and explore current evidences for the specific role of gluten in both conditions; specifically focusing on current evidence on the effect of gluten on the immune system and the gut microbiota. PMID:26343710

  6. Prevalence of celiac disease autoimmunity in children with type 1 diabetes

    DEFF Research Database (Denmark)

    Adlercreutz, Emma H; Svensson, Jannet; Hansen, Dorte

    2015-01-01

    OBJECTIVES: The aim was to determine the prevalence of celiac disease autoimmunity in children with type 1 diabetes (T1D) diagnosed in Denmark and Sweden. METHODS: A total of 662 Swedish children with T1D were matched with 1080 Danish children with T1D and 309 healthy children from Sweden and 283...... was equally distributed among 89 children with T1D positive for both IgAG-DGP/tTG and IgG-tTG. CONCLUSION: The discrepancy in levels of IgAG-DGP/tTG and IgG-tTG between Swedish and Danish T1D cohorts was independent of HLA and suggests that regional variations in comorbidity of celiac disease in T1D is caused...... by difference in exposure to environmental factors....

  7. UPON TYPE, FREQUENCY AND SOME CLINICAL ASPECTS OF PSYCHOTIC SYMPTOMS IN ALZHEIMER’S DISEASE

    Directory of Open Access Journals (Sweden)

    Mariana Arnaudova

    2011-12-01

    Full Text Available Various psychotic disorders develop often at different stages of the disease. A comprehensive approach of type, frequency and clinical aspects of the psychotic disorders patients with Alzheimer’s disease (AD can optimize management of these conditions in patients with dementia. We examined 120 patients with probable AD. The routine clinical examination and observation were used to delineate the most common psychotic symptoms. Delusions, found in the explored patients were predominantly paranoid. The delusions are often short lived and lack complexity of that seen in schizophrenia. In number of cases they are difficult to be distinguished from confabulations. Hallucinations were mostly verbal, visual and tactile. Misidentification syndromes were identified in a considerable number of patients. They are often disputable or have been classified as delusions or hallucinations, depending on interpretation of psychotic phenomena. We discuss different forms of misidentification. The presence of psychotic symptoms predicts the occurrence and frequency of different forms of aggression and destructive behavior.

  8. The Role of Gluten in Celiac Disease and Type 1 Diabetes.

    Science.gov (United States)

    Serena, Gloria; Camhi, Stephanie; Sturgeon, Craig; Yan, Shu; Fasano, Alessio

    2015-08-26

    Celiac disease (CD) and type 1 diabetes (T1D) are autoimmune conditions in which dietary gluten has been proven or suggested to play a pathogenic role. In CD; gluten is established as the instigator of autoimmunity; the autoimmune process is halted by removing gluten from the diet; which allows for resolution of celiac autoimmune enteropathy and subsequent normalization of serological markers of the disease. However; an analogous causative agent has not yet been identified for T1D. Nevertheless; the role of dietary gluten in development of T1D and the potentially beneficial effect of removing gluten from the diet of patients with T1D are still debated. In this review; we discuss the comorbid occurrence of CD and T1D and explore current evidences for the specific role of gluten in both conditions; specifically focusing on current evidence on the effect of gluten on the immune system and the gut microbiota.

  9. Superoxide dismutase type 1 in monocytes of chronic kidney disease patients

    DEFF Research Database (Denmark)

    Scholze, Alexandra; Krueger, Katharina; Diedrich, Madeleine

    2011-01-01

    We analyzed proteomic profiles in monocytes of chronic kidney disease (CKD) patients and healthy control subjects. Two-dimensional electrophoresis (2-DE) and silver staining indicated differences in protein pattern. Among the analyzed proteins, superoxide dismutase type 1 (SOD1), which...... was identified both by MS/MS mass-spectrometry and immunoblotting, was reduced in kidney disease. We characterized SOD1 protein amount, using quantitative in-cell Western assay and immunostaining of 2-DE gel blots, and SOD1 gene expression, using quantitative real-time polymerase chain reaction (PCR), in 98...... chronic hemodialysis (HD) and 211 CKD patients, and 34 control subjects. Furthermore, we showed that different SOD1 protein species exist in human monocytes. SOD1 protein amount was significantly lower in HD (normalized SOD1 protein, 27.2 ± 2.8) compared to CKD patients (34.3 ± 2.8), or control subjects...

  10. Glycogen Storage Disease Type Ia: Linkage of Glucose, Glycogen, Lactic Acid, Triglyceride, and Uric Acid Metabolism

    Science.gov (United States)

    Sever, Sakine; Weinstein, David A.; Wolfsdorf, Joseph I.; Gedik, Reyhan; Schaefer, Ernst J.

    2013-01-01

    Case Summary A female presented in infancy with hypotonia, undetectable serum glucose, lactic acidosis, and triglycerides > 5,000 mg/dl. The diagnosis of type 1A glycogen storage disease (GSD) was made by liver biopsy that showed increased glycogen and absent glucose-6-phosphatase enzyme activity. She was treated with dextrose feeding, which was replaced by frequent cornstarch feeding, with improvement of her metabolic parameters. At age 18 years she had marked hypertriglyceridemia (3,860 mg/dl) and eruptive xanthomas, and was treated with fenofibrate, atorvastatin, and fish oil. At age 29 years she was noted to have multiple liver adenomas, severe anemia, and hyperuricemia. Aggressive cornstarch therapy was commenced with a goal of maintaining her blood glucose levels > 75 mg/dl and lactate levels 75 mg/dl is critical in the management of this disease. PMID:23312056

  11. Evaluation of an indirect ELISA for detection and typing of foot-and-mouth disease virus

    International Nuclear Information System (INIS)

    Prado, J.A.

    1998-01-01

    An indirect enzyme linked immunosorbent assay (ELISA) kit was used for diagnosis of foot-and-mouth disease virus (FMDV) types O1, A23, C3 which occurred in Rio Grande do Sul State, Southern Brazil during 1984-1994. The samples were randomly selected and tested by ELISA, Complement Fixation Test (CFT) and in tissue culture. Out of 106 samples 78 (73,5%) were positive by ELISA and 39 (36,8%) were found positive in CFT, when original suspensions were used. Once these samples were inoculated onto tissue culture both tests gave similar results, although ELISA picked up more positive samples during the 1st passage in tissue culture. The negative samples (16) included in this study were negative in all tests. The ELISA was more sensitive than and as specific as CFT. ELISA and tissue culture together were shown to be a better system for detection of foot-and-mouth disease virus antigen than CFT. (author)

  12. Unrealistic pessimism about risk of coronary heart disease and stroke in patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Asimakopoulou, Koula G.; Skinner, T. Chas; Spimpolo, Jennifer

    2008-01-01

    Objective: We examined the accuracy of type 2 diabetes (T2D) patients' risk estimates of developing coronary heart disease (CHD)/having a stroke as a consequence of diabetes and their mood about these risks. Methods: Patients reported their perceived risks of developing CHD/having a stroke...... disease risk and mood was also seen where higher risk of actual and perceived CHD/stroke was related to worse mood. A positive relationship between mood and extent of perceptual error was further observed; the more inaccurate patients' perceptions of CHD/stroke risk were, the better their mood. Mood...... and rated their mood about these risks using a self-report measure. Using an objective risk calculator, they were then told their actual risk of CHD and stroke and their mood was re-assessed. Results: Patients' estimates of their risk of CHD/stroke were grossly inflated. A negative relationship between...

  13. Activation of glycolysis and apoptosis in glycogen storage disease type Ia.

    Science.gov (United States)

    Sun, Baodong; Li, Songtao; Yang, Liu; Damodaran, Tirupapuliyur; Desai, Dev; Diehl, Anna Mae; Alzate, Oscar; Koeberl, Dwight D

    2009-08-01

    The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, renal failure, hepatic adenomas, and hepatocellular carcinoma. Liver involvement includes the massive accumulation of glycogen and lipids due to accumulated glucose-6-phosphate and glycolytic intermediates. Proteomic analysis revealed elevations in glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and other enzymes involved in glycolysis. GAPDH was markedly increased in murine G6Pase-deficient hepatocytes. The moonlighting role of GAPDH includes increasing apoptosis, which was demonstrated by increased TUNEL assay positivity and caspase 3 activation in the murine GSD-Ia liver. These analyses of hepatic involvement in GSD-Ia mice have implicated the induction of apoptosis in the pathobiology of GSD-Ia.

  14. Exercise as a provocative test in early renal disease in type 1 (insulin-dependent) diabetes

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, B; Baker, L; Deckert, T

    1985-01-01

    The value of exercise as a provocative test for early renal disease in Type 1 (insulin-dependent) diabetes was re-evaluated. Three carefully characterized groups of males were studied: 10 non-diabetic controls, 16 diabetic patients (group 1) with normal urinary albumin excretion (less than 15....... The two diabetic groups were similar with regard to duration of disease (13 +/- 6 versus 16 +/- 3 years), metabolic control (HbA1c: 8.4 +/- 1.4 versus 8.7 +/- 1.3%) and degree of diabetic complications (beat-to-beat variation and retinopathy). An exercise protocol of 450 and 600 kpm/min workloads...... micrograms/min) and 14 Albustix-negative diabetics (group 2) with increased urinary albumin excretion (15-122 micrograms/min). Assignment to a study group was made on the basis of three 24-h urine collections, and the groups were well matched for age, weight, height, and serum creatinine concentration...

  15. The association between cardiovascular disease and type 2 diabetes in adults with atopic dermatitis

    DEFF Research Database (Denmark)

    Thyssen, J P; Halling-Overgaard, A-S; Andersen, Y M F

    2017-01-01

    Recent studies examining the association between atopic dermatitis (AD) and cardiovascular disease (CVD) and type 2 diabetes have shown inconsistent results. We compared the risk of CVD and diabetes between adult patients with and without AD by searching the Pubmed, Embase, and Web of Science...... 0.83-1.56), but a positive association was observed with angina pectoris (OR 1.73; 95% CI 1.27-2.37). Meta-analysis on adjusted data gave similar results. While adults with AD in some populations have increased prevalence of cardiovascular risk factors, such as obesity and smoking, it is unlikely...... that AD represents an independent and clinically relevant risk factor for cardiometabolic disease. This article is protected by copyright. All rights reserved....

  16. Interval type-2 fuzzy logic system for diagnosis coronary artery disease

    Directory of Open Access Journals (Sweden)

    Adha Mashur Sajiah

    2016-12-01

    Full Text Available Coronary artery disease (CAD is a disease that has been the deadliest disease in Indonesia. The ratio of cardiologists over potential patients is not appropriate either. Intelligent system which can help doctors or patients for cheap and efficient diagnosing CAD is needed. Medical record data, acquisition of cardiologist knowledge and computing technology can be utilized for developing fuzzy logic based intelligent system. Type-1 fuzzy logic system (T1 FLS has been widely used in various fields. T1 FS has limitation in representing and modelling uncertainty and minimize the impact. Whereas, type-2 fuzzy set (T2 FS was also introduced as fuzzy set that can model uncertainty more sophisticated. T2 FLS does have a higher degree of freedom when modeling uncertainty but it is quite difficult to make the membership function. An interval T2 FS is a T2 FS in which the membership grade on third dimension is the same everywhere so it is simpler than T2 FS. This paper aims to clarify the better capability of IT2 FLS over T1 FLS on the development of CAD diagnosis system. Rules and membership function were formulated with the help of fuzzy c-means. This study illustrated the causes of CAD risk factors, fuzzification, type reduction and defuzzification. The resulted system was tested with percentage split method (50%-50% to produce training data and testing data. This test is performed ten times with random seed to separate the data set. The resulted system generates an average of 73.78% accuracy, 71.94% sensitivity and 76.52% specificity.

  17. Phosphodiesterase type 5 inhibition is a novel therapeutic option in Raynaud disease.

    Science.gov (United States)

    Caglayan, Evren; Huntgeburth, Michael; Karasch, Thomas; Weihrauch, Julia; Hunzelmann, Nicolas; Krieg, Thomas; Erdmann, Erland; Rosenkranz, Stephan

    2006-01-23

    Raynaud disease (RD) is a common disorder affecting 3% to 5% of the healthy population, and occurs in more than 90% of patients with connective tissue diseases. The therapeutic options remain limited, particularly in patients with secondary RD due to connective tissue disease. Theoretical considerations lead to the expectation that phosphodiesterase type 5 inhibitors may improve clinical symptoms and digital blood flow in patients with RD. We conducted an open-label pilot study in 40 patients with RD, 33 (82%) of whom had secondary and 7 (18%) of whom had primary RD. Digital blood flow was measured by laser-Doppler flowmetry at room temperature and during the cold-exposure test before medical treatment, 1 hour after the initial intake, and after 2 weeks of continuous treatment (10 mg twice a day) with the novel phosphodiesterase type 5 inhibitor vardenafil. Clinical symptoms were recorded by a patient questionnaire and summarized as the Raynaud condition score. Laser-Doppler flowmetry revealed that vardenafil improved digital blood flow in 28 (70%) patients, whereas 12 (30%) did not respond. In individuals responding, digital blood flow significantly increased by a mean +/- SEM of 21.0% +/- 4.9% and 30.0% +/- 5.7% at 1 hour and 2 weeks of treatment at room temperature, respectively, and by 18.8% +/- 4.4% and 35.1% +/- 7.5% at 1 hour and 2 weeks during the cold-exposure test, respectively (P Raynaud condition score declined from a mean +/- SEM of 5.05 +/- 0.38 to 3.54 +/- 0.31 (P < .001). Our data indicate that phosphodiesterase type 5 inhibition significantly improves peripheral blood flow and clinical symptoms in a large subset of patients with RD and, thus, may provide a novel therapeutic approach in such individuals.

  18. Management and disease outcome of type I gastric neuroendocrine tumors: the Mount Sinai experience.

    Science.gov (United States)

    Chen, William C; Warner, Richard R P; Ward, Stephen C; Harpaz, Noam; Divino, Celia M; Itzkowitz, Steven H; Kim, Michelle K

    2015-04-01

    The incidence of gastric neuroendocrine tumors (NETs) has increased tenfold since the 1970s. Our aim was to describe the clinicopathologic profile, management, and outcomes of type I gastric NETs at The Mount Sinai Hospital. From existing databases of the Mount Sinai Division of Gastrointestinal Pathology and the Carcinoid Cancer Foundation, we identified 56 patients with type I gastric NETs seen at The Mount Sinai Hospital from 1993 to 2012. We generated a comprehensive dataset encompassing demographic, clinical, endoscopic, and pathologic factors. Survival information was determined from medical records and the Social Security Death Index. Tumor-node-metastasis staging was conducted, and tumors were graded based on mitotic counts and Ki67 index. Median NET size was 3.0 mm; 55.8 % displayed multifocal disease. Stages I, II, III, and IV disease were observed in 83.8, 10.8, 5.4, and 0 %, respectively. Tumors were either low (69.7 %) or intermediate (30.3 %) grade. Furthermore, 3.6 % of patients developed gastric dysplasia, and 5.5 % had gastric adenocarcinoma. Patients underwent endoscopy every 15 months, while 28.6 % underwent polypectomy, 32.7 % somatostatin therapy, and 46.4 % surgical resection. 5- and 10-year disease-specific survival was 100 %. Most patients received annual endoscopic surveillance, with a minority undergoing surgical resection, though outcomes remained excellent independent of therapeutic approach. We identified a very low but real rate of loco-regional spread, despite the generally indolent behavior of type I gastric NETs. Several patients demonstrated concurrent dysplasia or adenocarcinoma, underscoring the efficacy of regular endoscopic management not only for gastric NETs, but also for dysplasia and adenocarcinoma.

  19. Exercise as a provocative test in early renal disease in type 1 (insulin-dependent) diabetes

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, B; Baker, L; Deckert, T

    1985-01-01

    The value of exercise as a provocative test for early renal disease in Type 1 (insulin-dependent) diabetes was re-evaluated. Three carefully characterized groups of males were studied: 10 non-diabetic controls, 16 diabetic patients (group 1) with normal urinary albumin excretion (less than 15...... micrograms/min) and 14 Albustix-negative diabetics (group 2) with increased urinary albumin excretion (15-122 micrograms/min). Assignment to a study group was made on the basis of three 24-h urine collections, and the groups were well matched for age, weight, height, and serum creatinine concentration...

  20. Evolution of high yielding chickpea varieties, having improved plant type and disease resistance, through induced mutations

    International Nuclear Information System (INIS)

    Sadiq, M.; Hussan, M.; Haq, M.A.

    1989-01-01

    The breeding programme on the use of induced mutations, in chickpea for genetic variability for better plant type, grain yield and disease resistance has been started. The chickpea mutant variety is one of the leading varieties being extensively grown throughout Pakistan and has played its role in stabilizing the chickpea production in the country. Four chickpea varieties were treated, each with two dosed of gamma rays. The main purpose of the mutagenic treatment of these varieties/cultivars, was induce multiple resistance. (A.B.)

  1. Unusually prominent horizontal gaze palsy in a case of Niemann-Pick type C disease

    Directory of Open Access Journals (Sweden)

    Pritikanta Paul

    2013-01-01

    Full Text Available Niemann-Pick Type C disease (NPC is a rare inherited metabolic disorder characterized by lipid accumulation and systemic manifestations due to multiple organ involvement. Only a few cases of NPC have been reported so far from India. Varying presentations and often lack of access to complex diagnostic tests have leaded to initial misdiagnosis on few occasions. We here report a provisionally diagnosed case of NPC with prominent horizontal gaze palsy along with characteristic vertical gaze palsy and normal findings on microscopic examination of skin biopsy specimen.

  2. Synchronous Collagenous Sprue and Enteropathy-Type T Cell Lymphoma: Variants of the Same Disease

    OpenAIRE

    Medlicott, SAC; Beck, PL; Loken, S; Crabtree, T

    2004-01-01

    A 64-year-old man with treated hypothyroidism had 10 months of diarrhea, abdominal pain, anorexia and recent involuntary 13.6 kg weight loss. He presented to hospital with an acute abdomen that had a radiological correlate of free air under the diaphragm. He was diagnosed with a perforated mid-jejunum due to an ulcerated enteropathy-type T cell lymphoma (ETL), complicating collagenous sprue and cryptic celiac disease. Polymerase chain reaction verified monoclonal g- and b-T cell receptor gene...

  3. Predicting Disease-Related Subnetworks for Type 1 Diabetes Using a New Network Activity Score

    OpenAIRE

    Gao, Shouguo; Jia, Shuang; Hessner, Martin J.; Wang, Xujing

    2012-01-01

    In this study we investigated the advantage of including network information in prioritizing disease genes of type 1 diabetes (T1D). First, a naïve Bayesian network (NBN) model was developed to integrate information from multiple data sources and to define a T1D-involvement probability score (PS) for each individual gene. The algorithm was validated using known functional candidate genes as a benchmark. Genes with higher PS were found to be more likely to appear in T1D-related publications. N...

  4. Overview of saxagliptin efficacy and safety in patients with type 2 diabetes and cardiovascular disease or risk factors for cardiovascular disease

    OpenAIRE

    Toth, Peter

    2014-01-01

    Peter P Toth1,2 1CGH Medical Center, Sterling IL, USA, 2Johns Hopkins University School of Medicine, Baltimore, MD, USA Abstract: Most individuals with type 2 diabetes mellitus have or will develop multiple independent risk factors for cardiovascular disease, particularly coronary artery disease (CAD). CAD is the leading cause of morbidity and mortality among individuals with type 2 diabetes mellitus, and treating these patients is challenging. The risk of hypoglycemia, weight gain, or fluid...

  5. Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Hoefele, Julia; Mayer, Karin; Marschall, Christoph; Alberer, Martin; Klein, Hanns-Georg; Kirschstein, Martin

    2016-11-01

    There are several clinical reports about the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and connective tissue disorders. A simultaneous occurrence of osteogenesis imperfecta (OI) type I and ADPKD has not been observed so far. This report presents the first patient with OI type I and ADPKD. Mutational analysis of PKD1 and COL1A1 in the index patient revealed a heterozygous mutation in each of the two genes. Mutational analysis of the parents indicated the mother as a carrier of the PKD1 mutation and the father as a carrier of the COL1A1 mutation. The simultaneous occurrence of both disorders has an estimated frequency of 3.5:100 000 000. In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.

  6. Elevated fasting plasma cortisol is associated with ischemic heart disease and its risk factors in people with type 2 diabetes: the Edinburgh type 2 diabetes study.

    Science.gov (United States)

    Reynolds, Rebecca M; Labad, Javier; Strachan, Mark W J; Braun, Anke; Fowkes, F Gerry R; Lee, Amanda J; Frier, Brian M; Seckl, Jonathan R; Walker, Brian R; Price, Jackie F

    2010-04-01

    Increased activity of the hypothalamic-pituitary-adrenal (HPA) axis may underlie the metabolic syndrome, but whether circulating cortisol levels predict cardiovascular end points is less clear. People with type 2 diabetes are at increased cardiovascular disease risk and thus are suitable to study associations of plasma cortisol with cardiovascular risk. We aimed to assess whether altered HPA axis activity was associated with features of the metabolic syndrome and ischemic heart disease in people with type 2 diabetes. We conducted a cross-sectional cohort study in the general community, including 919 men and women aged 67.9 (4.2) yr with type 2 diabetes (the Edinburgh Type 2 Diabetes Study). We measured fasting morning plasma cortisol. Associations between cortisol levels, features of the metabolic syndrome, obesity, and ischemic heart disease were determined. Elevated plasma cortisol levels were associated with raised fasting glucose and total cholesterol levels (P cortisol levels were associated with prevalent ischemic heart disease (>800 vs. cortisol is also associated with a greater prevalence of ischemic heart disease, independent of conventional risk factors. Understanding the role of cortisol in the pathogenesis of ischemic heart disease merits further exploration.

  7. Nondiabetic kidney disease in type 2 diabetic patients: A single center experience

    Science.gov (United States)

    Das, U.; Dakshinamurty, K. V.; Prayaga, A.; Uppin, M. S.

    2012-01-01

    Nondiabetic renal disease (NDRD) is seen as a cause of proteinuria and renal failure in type 2 diabetes mellitus (DM). The clinical differences between NDRD and diabetic glomerulosclerosis (DGS) are not clear. This study was done to find the spectrum of NDRD in type 2 DM patients and differences in clinical profile between NDRD and DGS patients. Data of patients with type 2 DM who underwent renal biopsy in this institute from 1990 to 2008 were analyzed retrospectively. Patients were categorized as isolated NDRD, NDRD with DGS, and isolated DGS. A total of 75 patients were included. Mean age was 45 ± 10.2 years, male to female ratio was 3.1 : 1, median duration of DM was 12 months (range, 1 year-15 years), proteinuria was 4.2 ± 3.4 g/day, and serum creatinine was 4.3 ± 3.9 mg/dl. Hypertension was observed in 63 (84%) cases and microscopic hematuria in 24 (32%) cases. Nephrotic syndrome (38.7%) was the commonest clinical presentation. Forty-eight (64%) cases had NDRD and 27 (36%) had DGS. The commonest NDRD was minimal change disease (12.5%). Three (6.3%) patients had lupus nephritis. Tubulointerstitial nephritis has been observed in 10.4% patients. No significant differences between NDRD and DGS patients were found except hypertension which was significantly high in the DGS group. Acute kidney injury and nephritic syndrome were not observed in the DGS group. In conclusion, the incidence of biopsy-proven NDRD in type 2 DM in this study was high. Kidney biopsy aided in the detection of NDRD in clinically suspected patients. PMID:23326046

  8. Renoprotective effects of thiazides combined with loop diuretics in patients with type 2 diabetic kidney disease.

    Science.gov (United States)

    Hoshino, Taro; Ookawara, Susumu; Miyazawa, Haruhisa; Ito, Kiyonori; Ueda, Yuichiro; Kaku, Yoshio; Hirai, Keiji; Mori, Honami; Yoshida, Izumi; Tabei, Kaoru

    2015-04-01

    Type 2 diabetic kidney disease (DKD) is frequently accompanied by uncontrollable hypertension due to the sodium sensitivity inherent in DKD and to diuretic-resistant edema. In general, diuretics are effective in treating this condition, but thiazide diuretics are thought to be innocuous in advanced chronic kidney disease (CKD). We examined the renoprotective effects of combination therapy with thiazides and loop diuretics in type 2 DKD patients with CKD stage G4 or G5. This study included 11 patients with type 2 DKD and an estimated glomerular filtration rate (eGFR) diuretics. Each patient received additional hydrochlorothiazide (HCTZ) therapy, which was continued for more than 12 months. We examined clinical parameters including blood pressure (BP), proteinuria, and eGFR before and after the addition of HCTZ. Patients received a 13.6 ± 3.8 mg/day dose of HCTZ in addition to loop diuretics (azosemide: 120 mg/day in 6 cases, 60 mg/day in 3 cases and furosemide: 80 mg/day in 1 case, 120 mg/day in 1 case). Side effects of HCTZ were not observed in all patients. After the addition of HCTZ therapy, systolic and diastolic blood pressures (S-BP, D-BP) as well as proteinuria significantly decreased (S-BP: at 6 months, p diuretics improves BP levels, and decreases proteinuria even in advanced stage type 2 DKD patients with severe edema. The addition of HCTZ therapy was not found to negatively affect the change in eGFR in the present study.

  9. Hot Workability and Flow Characteristics of Aluminum-5 wt.% B4C Composite

    Science.gov (United States)

    Gangolu, S.; Rao, A. G.; Prabhu, N.; Deshmukh, V. P.; Kashyap, B. P.

    2014-04-01

    Flow behavior of aluminum-5 wt.% boron carbide (Al-B4C) composite was investigated by carrying out compression tests over a range of strain rates (10-4-100 s-1) and temperatures (200-500 °C). The flow stress data obtained from these tests at true strain 0.5 were used to develop processing map. The stable and instable flow regimes in the map were characterized by the microstructural examination using Scanning Electron Microscopy and Electron Backscattered Diffraction. The optimum condition for processing of Al-5%B4C composite was found to lie between 425 and 475 °C at the strain rate of around 10-4 s-1. A strain-compensated Sellars-McG Tegart constitutive equation was established to model high-temperature deformation behavior of the material.

  10. B4C protective coating under irradiation by QSPA-T intensive plasma fluxes

    Science.gov (United States)

    Buzhinskij, O. I.; Barsuk, V. A.; Begrambekov, L. B.; Klimov, N. S.; Otroshchenko, V. G.; Putric, A. B.

    2016-12-01

    The effect of the QSPA-T pulsed plasma irradiation on the crystalline boron carbide B4C coating was examined. The duration of the rectangular plasma pulses was 0.5 ms with an interval of 5-10 min between pulses. The maximum power density in the central part of plasma stream was 1 GW/m2. The coating thickness varied from 20 to 40 μm on different surface areas. Modification of the surface layers and transformation of the coating at elevated temperature under plasma pulse irradiation during four successive series of impulses are described. It is shown that the boron carbide coating withstood the full cycle of tests under irradiation with 100 plasma pulses with peak power density of 1GW/m2. Constitutive surface deterioration was not detected and the boron carbide coating kept crystal structure B4C throughout the irradiation zone at the surface depth no less 2 μm.

  11. Cr/B{sub 4}C multilayer mirrors: Study of interfaces and X-ray reflectance

    Energy Technology Data Exchange (ETDEWEB)

    Burcklen, C.; Meltchakov, E.; Jérome, A.; Rossi, S. de; Delmotte, F. [Laboratoire Charles Fabry, Institut d' Optique Graduate School, CNRS, Université Paris-Saclay, 91127 Palaiseau Cedex (France); Soufli, R. [Laboratoire Charles Fabry, Institut d' Optique Graduate School, CNRS, Université Paris-Saclay, 91127 Palaiseau Cedex (France); Lawrence Livermore National Laboratory, 7000 East Avenue, Livermore, California 94550 (United States); Dennetiere, D.; Polack, F.; Capitanio, B.; Thomasset, M. [Synchrotron SOLEIL, L' Orme des Merisiers, Saint Aubin, BP 48F-91192 Gif sur Yvette Cedex (France); Gullikson, E. [Center for X-ray Optics, Lawrence Berkeley National Laboratory, 1 Cyclotron Rd., Berkeley, California 94720 (United States)

    2016-03-28

    We present an experimental study of the effect of layer interfaces on the x-ray reflectance in Cr/B{sub 4}C multilayer interference coatings with layer thicknesses ranging from 0.7 nm to 5.4 nm. The multilayers were deposited by magnetron sputtering and by ion beam sputtering. Grazing incidence x-ray reflectometry, soft x-ray reflectometry, and transmission electron microscopy reveal asymmetric multilayer structures with a larger B{sub 4}C-on-Cr interface, which we modeled with a 1–1.5 nm thick interfacial layer. Reflectance measurements in the vicinity of the Cr L{sub 2,3} absorption edge demonstrate fine structure that is not predicted by simulations using the currently tabulated refractive index (optical constants) values for Cr.

  12. Modeling of wear behavior of Al/B{sub 4}C composites produced by powder metallurgy

    Energy Technology Data Exchange (ETDEWEB)

    Sahin, Ismail; Bektas, Asli [Gazi Univ., Ankara (Turkey). Dept. of Industrial Design Engineering; Guel, Ferhat; Cinci, Hanifi [Gazi Univ., Ankara (Turkey). Dept. of Materials and Metallurgy Engineering

    2017-06-01

    Wear characteristics of composites, Al matrix reinforced with B{sub 4}C particles percentages of 5, 10,15 and 20 produced by the powder metallurgy method were studied in this study. For this purpose, a mixture of Al and B{sub 4}C powders were pressed under 650 MPa pressure and then sintered at 635 C. The analysis of hardness, density and microstructure was performed. The produced samples were worn using a pin-on-disk abrasion device under 10, 20 and 30 N load through 500, 800 and 1200 mesh SiC abrasive papers. The obtained wear values were implemented in an artificial neural network (ANN) model having three inputs and one output using feed forward backpropagation Levenberg-Marquardt algorithm. Thus, the optimum wear conditions and hardness values were determined.

  13. Modeling of wear behavior of Al/B4C composites produced by powder metallurgy

    International Nuclear Information System (INIS)

    Sahin, Ismail; Bektas, Asli; Guel, Ferhat; Cinci, Hanifi

    2017-01-01

    Wear characteristics of composites, Al matrix reinforced with B 4 C particles percentages of 5, 10,15 and 20 produced by the powder metallurgy method were studied in this study. For this purpose, a mixture of Al and B 4 C powders were pressed under 650 MPa pressure and then sintered at 635 C. The analysis of hardness, density and microstructure was performed. The produced samples were worn using a pin-on-disk abrasion device under 10, 20 and 30 N load through 500, 800 and 1200 mesh SiC abrasive papers. The obtained wear values were implemented in an artificial neural network (ANN) model having three inputs and one output using feed forward backpropagation Levenberg-Marquardt algorithm. Thus, the optimum wear conditions and hardness values were determined.

  14. Cr/B4C multilayer mirrors: Study of interfaces and X-ray reflectance

    Science.gov (United States)

    Burcklen, C.; Soufli, R.; Dennetiere, D.; Polack, F.; Capitanio, B.; Gullikson, E.; Meltchakov, E.; Thomasset, M.; Jérome, A.; de Rossi, S.; Delmotte, F.

    2016-03-01

    We present an experimental study of the effect of layer interfaces on the x-ray reflectance in Cr/B4C multilayer interference coatings with layer thicknesses ranging from 0.7 nm to 5.4 nm. The multilayers were deposited by magnetron sputtering and by ion beam sputtering. Grazing incidence x-ray reflectometry, soft x-ray reflectometry, and transmission electron microscopy reveal asymmetric multilayer structures with a larger B4C-on-Cr interface, which we modeled with a 1-1.5 nm thick interfacial layer. Reflectance measurements in the vicinity of the Cr L2,3 absorption edge demonstrate fine structure that is not predicted by simulations using the currently tabulated refractive index (optical constants) values for Cr.

  15. Enhanced Electrochemical Properties of LiMnPO4/C by Glucose-Assisted Polyol Synthesis.

    Science.gov (United States)

    Song, Jinju; Gim, Jihyeon; Kim, Sungjin; Park, Wangeun; Jo, Jeonggeun; Kim, Jaekook

    2015-08-01

    Carbon-coated nano-sized LiMnPO4/C particles are synthesized by polyol method using low-cost glucose as the carbon source. The X-ray diffraction patterns of the synthesized samples are well indexed to the orthorhombic olivine-LiMnPO4 structure. The morphology studies using FE-SEM and HR-TEM images clearly illustrate thin layered carbon coatings on LiMnPO4 particles of sizes ranging between 50~100 nm. The LiMnPO4/C particles delivers an initial discharge capacity of 151 mA h g-1 at a current density of 1.6 mA g-1 in the voltage range of 2.5-4.3 V with impressive capacity retentions.

  16. Type I interferon induction is detrimental during infection with the Whipple's disease bacterium, Tropheryma whipplei.

    Directory of Open Access Journals (Sweden)

    Khatoun Al Moussawi

    2010-01-01

    Full Text Available Macrophages are the first line of defense against pathogens. Upon infection macrophages usually produce high levels of proinflammatory mediators. However, macrophages can undergo an alternate polarization leading to a permissive state. In assessing global macrophage responses to the bacterial agent of Whipple's disease, Tropheryma whipplei, we found that T. whipplei induced M2 macrophage polarization which was compatible with bacterial replication. Surprisingly, this M2 polarization of infected macrophages was associated with apoptosis induction and a functional type I interferon (IFN response, through IRF3 activation and STAT1 phosphorylation. Using macrophages from mice deficient for the type I IFN receptor, we found that this type I IFN response was required for T. whipplei-induced macrophage apoptosis in a JNK-dependent manner and was associated with the intracellular replication of T. whipplei independently of JNK. This study underscores the role of macrophage polarization in host responses and highlights the detrimental role of type I IFN during T. whipplei infection.

  17. Preparation and electrochemical properties of LiFePO 4/C ...

    Indian Academy of Sciences (India)

    A network structure, LiFePO4/C composite, was obtained using phenolic resin as carbon source. It possessed the highest specific surface area of 115.65 m2/g, exhibited the highest discharge capacity of 164.89 and 149.12 mAh/g at 0.1 C and 1 C rates, respectively. The discharge capacity was completely recovered when ...

  18. Preparation and electrochemical properties of LiFePO 4 /C ...

    Indian Academy of Sciences (India)

    A network structure, LiFePO4/C composite, was obtained using phenolic resin as carbon source. It possessed the highest specific surface area of 115.65 m2/g, exhibited the highest discharge capacity of 164.89 and 149.12 mAh/g at 0.1 C and 1 C rates, respectively. The discharge capacity was completely recovered when ...

  19. The 4C framework for making reasonable adjustments for people with learning disabilities.

    Science.gov (United States)

    Marsden, Daniel; Giles, Rachel

    2017-01-18

    Background People with learning disabilities experience significant inequalities in accessing healthcare. Legal frameworks, such as the Equality Act 2010, are intended to reduce such disparities in care, and require organisations to make 'reasonable adjustments' for people with disabilities, including learning disabilities. However, reasonable adjustments are often not clearly defined or adequately implemented in clinical practice. Aim To examine and synthesise the challenges in caring for people with learning disabilities to develop a framework for making reasonable adjustments for people with learning disabilities in hospital. This framework would assist ward staff in identifying and managing the challenges of delivering person-centred, safe and effective healthcare to people with learning disabilities in this setting. Method Fourth-generation evaluation, collaborative thematic analysis, reflection and a secondary analysis were used to develop a framework for making reasonable adjustments in the hospital setting. The authors attended ward manager and matron group meetings to collect their claims, concerns and issues, then conducted a collaborative thematic analysis with the group members to identify the main themes. Findings Four main themes were identified from the ward manager and matron group meetings: communication, choice-making, collaboration and coordination. These were used to develop the 4C framework for making reasonable adjustments for people with learning disabilities in hospital. Discussion The 4C framework has provided a basis for delivering person-centred care for people with learning disabilities. It has been used to inform training needs analyses, develop audit tools to review delivery of care that is adjusted appropriately to the individual patient; and to develop competencies for learning disability champions. The most significant benefit of the 4C framework has been in helping to evaluate and resolve practice-based scenarios. Conclusion Use of

  20. Characterization of Al–Al{sub 4}C{sub 3} nanocomposites produced by mechanical milling

    Energy Technology Data Exchange (ETDEWEB)

    Santos-Beltrán, A., E-mail: asantos@utchsur.edu.mx [Universidad Tecnológica de Chihuahua Sur, Carr. Chihuahua a Aldama km. 3 S/N, Col. Colinas del León, CP. 31313 Chihuahua, Chih. (Mexico); Goytia-Reyes, R. [Centro de Investigación en Materiales Avanzados (CIMAV), Laboratorio Nacional de Nanotecnología, Miguel de Cervantes No. 120, C.P. 31109 Chihuahua, Chih. (Mexico); Morales-Rodriguez, H.; Gallegos-Orozco, V. [Universidad Tecnológica de Chihuahua Sur, Carr. Chihuahua a Aldama km. 3 S/N, Col. Colinas del León, CP. 31313 Chihuahua, Chih. (Mexico); Santos-Beltrán, M. [Centro de Investigación en Materiales Avanzados (CIMAV), Laboratorio Nacional de Nanotecnología, Miguel de Cervantes No. 120, C.P. 31109 Chihuahua, Chih. (Mexico); Baldenebro-Lopez, F. [Universidad Tecnológica de Chihuahua Sur, Carr. Chihuahua a Aldama km. 3 S/N, Col. Colinas del León, CP. 31313 Chihuahua, Chih. (Mexico); Martínez-Sánchez, R. [Centro de Investigación en Materiales Avanzados (CIMAV), Laboratorio Nacional de Nanotecnología, Miguel de Cervantes No. 120, C.P. 31109 Chihuahua, Chih. (Mexico)

    2015-08-15

    In this work, a mixture of Al–C–Al{sub 4}C{sub 3} nanopowder previously synthesized by mechanical milling and subsequent thermal treatment was used to reinforce the Al matrix. The nanocomposites were fabricated via high-energy ball milling and subsequent sintering process for different periods of time at 550 °C. Hardness and compression tests were performed to evaluate the mechanical properties of the nanocomposites in the as-milled and sintered conditions. According to the results the reinforcement located in the grain boundaries is responsible for the brittle behavior observed in the nanocomposites during the compression test. The combined effect of sintering and precipitation mechanisms produced an evident increase of the strength of the Al matrix at a relatively short sintering time. By using the Rietveld method the crystallite size and microstrain measurements were determined and correlated with the microhardness values. For the proper characterization of the nanoparticles present in the Al matrix, atomic force microscopy and high resolution electron microscopy were used. - Highlights: • Nanostructured Al{sub 4}C{sub 3} reinforcement was fabricated via mechanical milling and heat treatment. • We found a significant increase of the mechanical properties at short sintering times. • The formation of Al{sub 4}C{sub 3} with during sintering time restricted the excessive growth of the crystallite. • Al{sub 4}C{sub 3} located in the grain boundaries causes brittle fracture observed in compression tests. • There is a correlation between, crystallite size and microstrain values with microhardness.