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5. Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Author

Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W, Sadowski, Carolin E, Allen, Susan J, Otto, Edgar A, Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S, Bakkaloglu, Sevcan A, Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, and Hildebrandt, Friedhelm

Subjects
Biological Sciences, Genetics, Kidney Disease, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, Alleles, Animals, Caveolin 1, Cell Proliferation, Child, Preschool, Chromosome Mapping, Endothelial Cells, Gene Expression Regulation, Genetic Loci, Homozygote, Humans, Infant, Kidney, Kidney Failure, Chronic, Membrane Glycoproteins, Mutation, Nephrotic Syndrome, Zebrafish, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. We thereby detected biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. We showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. At the cellular level, we showed that knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation. Our data therefore identify EMP2 mutations as causing a recessive Mendelian form of SSNS.

Published
2014

7. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Author

Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, Desoky, Sherif El, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, and Hildebrandt, Friedhelm

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Complementary and Integrative Health, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, Adolescent, Adrenal Cortex Hormones, Amino Acid Sequence, Animals, Cells, Cultured, Child, Consanguinity, Conserved Sequence, DNA Mutational Analysis, Disease Models, Animal, Drosophila Proteins, Drug Resistance, Exome, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Nephrotic Syndrome, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Ubiquinone, Young Adult, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in rat kidneys and cultured human podocytes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. Knockdown of ADCK4 in podocytes resulted in decreased migration, which was reversed by CoQ10 addition. Interestingly, a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ10 treatment. These data indicate that individuals with SRNS with mutations in ADCK4 or other genes that participate in CoQ10 biosynthesis may be treatable with CoQ10.

Published
2013

9. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Author

Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., and Hildebrandt, Friedhelm

Published
2016
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11. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Author

Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, and Hildebrandt, Friedhelm

Published
2014
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12. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Author

Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., and Hildebrandt, Friedhelm

Published
2012
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18. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Author

O'Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Karppa, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, and Hildebrandt, Friedhelm

Subjects
Care and treatment, Physiological aspects, Genetic aspects, Research, Risk factors, Health aspects, Gene mutation -- Health aspects -- Genetic aspects -- Research -- Physiological aspects, Kidney diseases -- Genetic aspects -- Risk factors -- Care and treatment -- Research, Mitochondrial DNA -- Physiological aspects -- Research -- Health aspects, Gene mutations -- Health aspects -- Genetic aspects -- Research -- Physiological aspects
Abstract

Introduction The autosomal recessive kidney disease nephronophthisis (NPHP) is the most frequent genetic cause of end-stage kidney disease in the first 3 decades of life (1). The characteristic histological findings [...], The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are 'ciliopathies'. Using genome-wide homozygosity mapping, we report here what we believe to be a new locus (NPHP-like 1 [NPHPL1]) for an NPHP-like nephropathy. In 2 families with an NPHP-like phenotype, we detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl aminopepti-dase 3 (XPNPEP3) gene. In contrast to all known NPHP proteins, XPNPEP3 localizes to mitochondria of renal cells. However, in vivo analyses also revealed a likely cilia-related function; suppression of zebrafish xpnpep3 phenocopied the developmental phenotypes of ciliopathy morphants, and this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal. Consistent with a role for XPNPEP3 in ciliary function, several ciliary cystogenic proteins were found to be XPNPEP3 substrates, for which resistance to N-terminal proline cleavage resulted in attenuated protein function in vivo in zebrafish. Our data highlight an emerging link between mitochondria and ciliary dysfunction, and suggest that further understanding the enzymatic activity and substrates of XPNPEP3 will illuminate novel cystogenic pathways.

Published
2010
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21. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Author

Otto, Edgar A, Ramaswami, Gokul, Janssen, Sabine, Chaki, Moumita, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Hurd, Toby W, Ghosh, Amiya K, Wolf, Matthias T, Hoppe, Bernd, Neuhaus, Thomas J, Bockenhauer, Detlef, Milford, David V, Soliman, Neveen A, Antignac, Corinne, Saunier, Sophie, Johnson, Colin A, and Hildebrandt, Friedhelm

Published
2011
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25. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Author

O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, and Hildebrandt, Friedhelm

Published
2010
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36. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Author

Zariwala, Maimoona A., Gee, Heon Yung, Kurkowiak, Małgorzata, Al-Mutairi, Dalal A., Leigh, Margaret W., Hurd, Toby W., Hjeij, Rim, Dell, Sharon D., Chaki, Moumita, Dougherty, Gerard W., Adan, Mohamed, Spear, Philip C., Esteve-Rudd, Julian, Loges, Niki T., Rosenfeld, Margaret, Diaz, Katrina A., Olbrich, Heike, Wolf, Whitney E., Sheridan, Eamonn, Batten, Trevor F.C., Halbritter, Jan, Porath, Jonathan D., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Pittman, Jessica E., Burns, Kimberlie A., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Morgan, Lucy C., Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Sun, Zhaoxia, Zhou, Weibin, Airik, Rannar, Natarajan, Sivakumar, Allen, Susan J., Amirav, Israel, Wieczorek, Dagmar, Landwehr, Kerstin, Nielsen, Kim, Schwerk, Nicolaus, Sertic, Jadranka, Köhler, Gabriele, Washburn, Joseph, Levy, Shawn, Fan, Shuling, Koerner-Rettberg, Cordula, Amselem, Serge, Williams, David S., Mitchell, Brian J., Drummond, Iain A., Otto, Edgar A., Omran, Heymut, Knowles, Michael R., and Hildebrandt, Friedhelm

Published
2013
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39. Can H2‐receptor upregulation and raised histamine explain an anaphylactoid reaction on cessation of ranitidine in a 19‐year‐old female? A case report.

Author

Allen, Susan J., Chazot, Paul L., and Dixon, C. Jane

Subjects
*MAST cell disease, *RANITIDINE, *DISEASE clusters, *SECONDARY care (Medicine), *PRIMARY care, *THERAPEUTICS
Abstract

The anaphylactoid reaction described follows cessation of ranitidine in a 19‐year‐old female with the disease cluster: mast cell activation syndrome, hypermobile Ehlers‐Danlos syndrome and postural tachycardia syndrome. Anaphylaxis can give wide‐ranging symptoms from rhinorrhoea and urticaria to tachycardia and system‐wide, life‐threatening, anaphylactic shock. Individuals with a disorder of mast cell activation can experience many such symptoms. H2 receptor antagonists, such as ranitidine, are commonly prescribed in this population. A mechanism for the reaction is proposed in the context of ranitidine, as an inverse agonist, causing upregulation of H2 histamine receptors and raised histamine levels due to enzyme induction. This effect, following extended and/or high antihistamine dosing, may have implications for other individuals with a disorder of mast cell activation, such as mastocytosis or mast cell activation syndrome. There are potential policy and patient guidance implications for primary and secondary care with respect to cessation of H2 antagonists. [ABSTRACT FROM AUTHOR]

Published
2018
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43. Immortalized Mouse Inner Ear Cell Lines Demonstrate a Role for Chemokines in Promoting the Growth of Developing Statoacoustic Ganglion Neurons

Author

Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, ; Program in Neuroscience, University of Michigan Medical School, Ann Arbor, MI, USA, ; Cell and Molecular Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Neuroscience Department, Oberlin College, Oberlin, OH, 44074, USA, ; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Neuroscience Department, Oberlin College, Oberlin, OH, 44074, USA, Ann Arbor, Daruwalla, Zeeba, Roth, Therese M., Bianchi, Lynne M., Allen, Susan J., White, Ian O., Lukacs, Nicholas W., Barald, Kate F., Richards, Ayo-Lynn, Attia, Naweah P., Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, ; Program in Neuroscience, University of Michigan Medical School, Ann Arbor, MI, USA, ; Cell and Molecular Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Neuroscience Department, Oberlin College, Oberlin, OH, 44074, USA, ; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA, Neuroscience Department, Oberlin College, Oberlin, OH, 44074, USA, Ann Arbor, Daruwalla, Zeeba, Roth, Therese M., Bianchi, Lynne M., Allen, Susan J., White, Ian O., Lukacs, Nicholas W., Barald, Kate F., Richards, Ayo-Lynn, and Attia, Naweah P.

Abstract

The target-derived factors necessary for promoting initial outgrowth from the statoacoustic ganglion (SAG) to the inner ear have not been fully characterized. In the present study, conditioned medium from embryonic Immortomouse inner ear cell lines that maintain many characteristics of developing inner ear sensory epithelia were screened for neurite-promoting activity. Conditioned medium found to be positive for promoting SAG neurite outgrowth and neuronal survival was then tested for the presence of chemokines, molecules that have not previously been investigated for promoting SAG outgrowth. One candidate molecule, monocyte chemotactic protein 1 (MCP-1), was detected in the conditioned medium and subsequently localized to mouse hair cells by immunocytochemistry. In vitro studies demonstrated that function-blocking MCP-1 antibodies decreased the amount of SAG neurite outgrowth induced by the conditioned medium and that subsequent addition of MCP-1 protein was able to promote outgrowth when added to the antibody-treated conditioned medium. The use of the Immortomouse cell lines proved valuable in identifying this candidate cofactor that promotes outgrowth of early-stage SAG nerve fibers and is expressed in embryonic hair cells.

Published
2006

44. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Author

Zhou, Weibin, primary, Otto, Edgar A, additional, Cluckey, Andrew, additional, Airik, Rannar, additional, Hurd, Toby W, additional, Chaki, Moumita, additional, Diaz, Katrina, additional, Lach, Francis P, additional, Bennett, Geoffrey R, additional, Gee, Heon Yung, additional, Ghosh, Amiya K, additional, Natarajan, Sivakumar, additional, Thongthip, Supawat, additional, Veturi, Uma, additional, Allen, Susan J, additional, Janssen, Sabine, additional, Ramaswami, Gokul, additional, Dixon, Joanne, additional, Burkhalter, Felix, additional, Spoendlin, Martin, additional, Moch, Holger, additional, Mihatsch, Michael J, additional, Verine, Jerome, additional, Reade, Richard, additional, Soliman, Hany, additional, Godin, Michel, additional, Kiss, Denes, additional, Monga, Guido, additional, Mazzucco, Gianna, additional, Amann, Kerstin, additional, Artunc, Ferruh, additional, Newland, Ronald C, additional, Wiech, Thorsten, additional, Zschiedrich, Stefan, additional, Huber, Tobias B, additional, Friedl, Andreas, additional, Slaats, Gisela G, additional, Joles, Jaap A, additional, Goldschmeding, Roel, additional, Washburn, Joseph, additional, Giles, Rachel H, additional, Levy, Shawn, additional, Smogorzewska, Agata, additional, and Hildebrandt, Friedhelm, additional

Published
2012
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45. Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Author

Janssen, Sabine, primary, Ramaswami, Gokul, additional, Davis, Erica E., additional, Hurd, Toby, additional, Airik, Rannar, additional, Kasanuki, Jennifer M., additional, Van Der Kraak, Lauren, additional, Allen, Susan J., additional, Beales, Philip L., additional, Katsanis, Nicholas, additional, Otto, Edgar A., additional, and Hildebrandt, Friedhelm, additional

Published
2010
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46. A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Author

Hildebrandt, Friedhelm, primary, Heeringa, Saskia F., additional, Rüschendorf, Franz, additional, Attanasio, Massimo, additional, Nürnberg, Gudrun, additional, Becker, Christian, additional, Seelow, Dominik, additional, Huebner, Norbert, additional, Chernin, Gil, additional, Vlangos, Christopher N., additional, Zhou, Weibin, additional, O'Toole, John F., additional, Hoskins, Bethan E., additional, Wolf, Matthias T. F., additional, Hinkes, Bernward G., additional, Chaib, Hassan, additional, Ashraf, Shazia, additional, Schoeb, Dominik S., additional, Ovunc, Bugsu, additional, Allen, Susan J., additional, Vega-Warner, Virginia, additional, Wise, Eric, additional, Harville, Heather M., additional, Lyons, Robert H., additional, Washburn, Joseph, additional, MacDonald, James, additional, Nürnberg, Peter, additional, and Otto, Edgar A., additional

Published
2009
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47. Cost of Fluoridation: 44 Florida Communities

Author

Ringelberg, Melvin L., Allen, Susan J., and Brown, L. Jackson

Abstract

Previous data relating to the cost of fluoridation often do not include annualized costs or costs for labor and maintenance. The purpose of this study was to estimate accurately current costs for initiating and maintaining fluoridation and to develop a methodology that can be used to provide the cost basis for further cost‐effectiveness studies. The data were collected from 44 Florida communities that had initiated community water fluoridation between 1981 and 1989. Equipment, installation, and engineering costs were derived from copies of actual invoices for equipment and services and then adjusted to 1988 dollars. The chemical costs were calculated from operational reports listing flow rate and pounds used. The cost was then adjusted according to whether the hydrofluosilicic acid was supplied as 15‐gallon carboys, 55‐gallon drums, in bulk, or as sodium silicofluoride or sodium fluoride. The initial cost was annualized at 2 percent and 4 percent over 15 years. Calculated operational costs included chemical costs, labor costs, and maintenance and repair costs. The operational costs were then added to the annualized depreciation costs and opportunity costs for the initial investment, to produce an estimated cost per person served. The total mean cost per person for all installations was $1.14 per year at 2 percent and $1.25 per year at 4 percent. The mean cost at 4 percent for communities of fewer than 10,000 was $2.12; for communities between 10,000 and 50,000 it was $0.68; and for communities over 50,000 it was $0.31. The total mean cost per person across all installations was $0.41 at 2 percent and 0.45 at 4 percent. The average yearly cost was related to the size of the community, the number of injection points, and the method of chemical purchase and delivery.

Published
1992

48. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Author

Sayer, John A, primary, Otto, Edgar A, additional, O'Toole, John F, additional, Nurnberg, Gudrun, additional, Kennedy, Michael A, additional, Becker, Christian, additional, Hennies, Hans Christian, additional, Helou, Juliana, additional, Attanasio, Massimo, additional, Fausett, Blake V, additional, Utsch, Boris, additional, Khanna, Hemant, additional, Liu, Yan, additional, Drummond, Iain, additional, Kawakami, Isao, additional, Kusakabe, Takehiro, additional, Tsuda, Motoyuki, additional, Ma, Li, additional, Lee, Hwankyu, additional, Larson, Ronald G, additional, Allen, Susan J, additional, Wilkinson, Christopher J, additional, Nigg, Erich A, additional, Shou, Chengchao, additional, Lillo, Concepcion, additional, Williams, David S, additional, Hoppe, Bernd, additional, Kemper, Markus J, additional, Neuhaus, Thomas, additional, Parisi, Melissa A, additional, Glass, Ian A, additional, Petry, Marianne, additional, Kispert, Andreas, additional, Gloy, Joachim, additional, Ganner, Athina, additional, Walz, Gerd, additional, Zhu, Xueliang, additional, Goldman, Daniel, additional, Nurnberg, Peter, additional, Swaroop, Anand, additional, Leroux, Michel R, additional, and Hildebrandt, Friedhelm, additional

Published
2006
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50. Life and lymph: a new calling in 'retirement.'

Author

Allen, Susan J.

Subjects
Practice, Care and treatment, Prevention, Personal narratives, Health aspects, Lymphedema -- Personal narratives -- Care and treatment -- Prevention, Physical therapists -- Practice -- Health aspects -- Personal narratives
Abstract

I'd had a lifetime's worth of experiences even before I entered physical therapy school marriage, divorce, a secretarial role at a Methodist mission in Liberia, the chance to see physical [...]

Published
2007

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