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2. The mobile vaccine equity enhancement program–a model program for enhancing equity in vaccine availability based at a large health care system

Author

Broach, John, primary, Brown, Olga, additional, McEachern, Caitlin, additional, Forget, Janell, additional, Lancette, Peter, additional, Soucie, Norman, additional, Inzerillo, Julie, additional, Klugman, Robert, additional, Tosi, Stephen, additional, Haddad, Abraham, additional, Manor, Pamela, additional, Bylund, Richard, additional, Dellostritto, Gio, additional, Grecchi, Max, additional, Camelo, Connie, additional, Shirshac, Jeanne, additional, Eshghi, Katharine, additional, Vega, Nardy, additional, Hampson, Stacy, additional, Follwell, Kassandra, additional, Gonzalez, Rafael, additional, Hicks, Theresa, additional, McCandless, Victoria, additional, VanStratten, Timothy, additional, Botros, Mina, additional, Jalbert, Tracy, additional, Merwin, Catherine, additional, Schellhammer, Wendy, additional, Pelto, Ian, additional, Rodriguez, Maggie, additional, LaPriore, Cheryl, additional, Lowell, Monica, additional, Radigan, Elizabeth, additional, Gull, Lorie, additional, Gruszecki, Alana, additional, Benoit, Sarah, additional, Dickson, Eric, additional, and Muller, Michelle, additional

Published
2023
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4. Pharmacological validation of TDO as a target for Parkinson’s disease

Author

Perez-Pardo, Paula, Grobben, Yvonne, Willemsen-Seegers, Nicole, Hartog, Mitch, Tutone, Michaela, Muller, Michelle, Adolfs, Youri, Pasterkamp, Ronald Jeroen, Vu-Pham, Diep, van Doornmalen, Antoon M., van Cauter, Freek, de Wit, Joeri, Gerard Sterrenburg, Jan, Uitdehaag, Joost C.M., de Man, Jos, Buijsman, Rogier C., Zaman, Guido J.R., Kraneveld, Aletta D., Afd Pharmacology, Pharmacology, Afd Pharmacology, and Pharmacology

Subjects
0301 basic medicine, Male, Insecticides, Parkinson's disease, enzyme inhibitors, tryptophan 2,3‐dioxygenase, Pharmacology, blood–brain barrier, Biochemistry, rotenone, chemistry.chemical_compound, Mice, 0302 clinical medicine, Cognition, Glial fibrillary acidic protein, biology, Brain, Parkinson Disease, Tryptophan Oxygenase, medicine.anatomical_structure, 3-dioxygenase, 030220 oncology & carcinogenesis, Original Article, medicine.drug, Levodopa, Substantia nigra, tryptophan 2,3-dioxygenase, Motor Activity, Blood–brain barrier, Small Molecule Libraries, 03 medical and health sciences, In vivo, medicine, Animals, L‐tryptophan, Molecular Biology, Neuroinflammation, tryptophan 2, business.industry, Rotenone, Cell Biology, Original Articles, medicine.disease, Mice, Inbred C57BL, L-tryptophan, Disease Models, Animal, 030104 developmental biology, chemistry, biology.protein, business
Abstract

Parkinson’s disease patients suffer from both motor and nonmotor impairments. There is currently no cure for Parkinson’s disease, and the most commonly used treatment, levodopa, only functions as a temporary relief of motor symptoms. Inhibition of the expression of the L‐tryptophan‐catabolizing enzyme tryptophan 2,3‐dioxygenase (TDO) has been shown to inhibit aging‐related α‐synuclein toxicity in Caenorhabditis elegans. To evaluate TDO inhibition as a potential therapeutic strategy for Parkinson’s disease, a brain‐penetrable, small molecule TDO inhibitor was developed, referred to as NTRC 3531‐0. This compound potently inhibits human and mouse TDO in biochemical and cell‐based assays and is selective over IDO1, an evolutionary unrelated enzyme that catalyzes the same reaction. In mice, NTRC 3531‐0 increased plasma and brain L‐tryptophan levels after oral administration, demonstrating inhibition of TDO activity in vivo. The effect on Parkinson’s disease symptoms was evaluated in a rotenone‐induced Parkinson’s disease mouse model. A structurally dissimilar TDO inhibitor, LM10, was evaluated in parallel. Both inhibitors had beneficial effects on rotenone‐induced motor and cognitive dysfunction as well as rotenone‐induced dopaminergic cell loss and neuroinflammation in the substantia nigra. Moreover, both inhibitors improved intestinal transit and enhanced colon length, which indicates a reduction of the rotenone‐induced intestinal dysfunction. Consistent with this, mice treated with TDO inhibitor showed decreased expression of rotenone‐induced glial fibrillary acidic protein, which is a marker of enteric glial cells, and decreased α‐synuclein accumulation in the enteric plexus. Our data support TDO inhibition as a potential therapeutic strategy to decrease motor, cognitive, and gastrointestinal symptoms in Parkinson’s disease., Using two selective small molecule inhibitors, the inhibition of tryptophan 2,3‐dioxygenase (TDO) was validated as a potential new therapeutic approach for Parkinson's disease. In a rotenone‐induced mouse model of Parkinson's disease, TDO inhibitor treatment induced positive effects on central nervous system function. Moreover, in contrast to standard therapy, the TDO inhibitors acted peripherally on the intestinal phenotype by reducing the rotenone‐induced intestinal inflammatory response.

Published
2021

5. Interobserver agreement for the ATS/ERS/JRS/ALAT criteria for a UIP pattern on CT

Author

Walsh, Simon L F, Calandriello, Lucio, Sverzellati, Nicola, Wells, Athol U, Hansell, David M, Jacob, Joseph, Devaraj, Anand, Gavelli, Giampaola, Nath, Hrudaya, Tashjian, Joseph, Tack, Denis, Monostori, Zsuzsanna, Johkoh, Takeshi, Davies, Anne, Zompatori, Maurizio, Polverosi, Roberta, Sassani, Ennio Vincenzo, R Ferretti, Gilbert, Zafer Karaman, Can, Sergiacomi, Gianluigi, Franquet, Tomas, Garg, Kavita, Mannion, Richard, Campos, Paula, Karl, Robert, Burrowes, Paul, Quagliarini, Franco, Norlen, Louise, Murchison, John T, Khalil, Antoine, Nayak, Sundeep M, Nchimi, Alain, Karabulut, Nevzat, Larici, Anna Rita, Matthews, Suzanne, Castañer, Eva, Arenas-Jimenez, Juan, Drosten, Ralph, Egashira, Ryoko, Lee, Hyun-Ju, Rossi, Santiago, Al-Raddadi, Mosleh, Oikonomou, Anastasia, Parkar, Anagha P, Brillet, Pierre Yves, de Paula, Wagner Diniz, Medart, Laurent, Poschenrieder, Florian, Pozek, Igor, Senbanjo, Taiwo, Marten-Engelke, Katharina, Euathrongchit, Juntima, Delaplain, Cal, Cortese, Giancarlo, Soardi, Gian Alberto, Grgic, Aleksandar, Kanne, Jeffrey, Muller, Michelle, Bruzzi, John, Jankowski, Adrien, Bozovic, Gracijela, Goncalves, Andrea, Roos, Justus, Vargas, Daniel, Elias, Mark, Bradford-Kennedy, Djenaba, Seaman, Danielle, Memauri, Brett, Chaudhary, Humera, Wong, Foong, Alegria, Julia, Guo, H Henry, Prosch, Helmut, Cantin, Luce, Serra, Goffredo, Baratella, Elisa, Silecchia, Rosalba, Icksan, Aziza, Wallis, Adam, Damani, Sidhdharth, Renapurkar, Rahul, Hare, Samanjit, Ciello, Annemilia del, Jung, Jennifer, Silva, Mario, Sonavane, Sushilkumar, Thomas, Sue, Beattie, Anna, Kislinger, Benedikt, Ca, Leo, Shroff, Girish, Gietema, Hester, Weerakkody, Yuranga, Hobbs, Stephen, Izumi, Shinyu, Kishaba, Tomoo, Shiraki, Akira, Waseda, Yuko, Castoldi, Maria Chiara, Herpels, Vincent, Pais, Antonio, Matus, Roger, Lubin, Enrico, Wilson, Ben, Mueller, Mathias, Alzubaidi, Shadha Ahmed, Ortiz, Alain, Sequeiros, lara, Bariga, Nicola Boscolo, Wills, Mark, Mak, Sze Mun, Aquaro, Giuseppe, Midia, Esin Cakmakci, Schembri, Nicola, Sheehan, Joseph A M, Farrugia, Alexia, Tomich, Jennifer, and Garcia-Hierro, J M Fernandez

Published
2016
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7. Abstract 1480: Comparative cancer cell panel profiling of kinase inhibitors approved for clinical use from 2018 to 2020

Author

Kooijman, Jeffrey J., primary, van Riel, Wilhelmina E., additional, Prinsen, Martine B., additional, Dylus, Jelle, additional, de Roos, Jeroen A., additional, Grobben, Yvonne, additional, Willemsen-Seegers, Nicole, additional, Muller, Michelle, additional, de Man, Jos, additional, Narumi, Yugo, additional, Kawase, Yusuke, additional, Buijsman, Rogier C., additional, van Gerwen, Suzanne J., additional, and Zaman, Guido J., additional

Published
2021
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8. A Citywide Approach to SARS-CoV2 Testing

Author

Broach, John P., primary, Lowell, Monica, additional, Brown, Olga, additional, Martin, Clayton, additional, Muller, Michelle, additional, Shirshac, Jeanne, additional, Perrone, Domenica, additional, Smith, Will, additional, Castiel, Matilde, additional, Kobayashi, Kimiyoshi J., additional, Lapriore, Cheryl M., additional, Dickson, Eric W., additional, and Babu, Kavita M., additional

Published
2021
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10. Targeting Indoleamine 2,3-Dioxygenase in Cancer Models Using the Novel Small Molecule Inhibitor NTRC 3883-0

Author

Grobben, Yvonne, Man, Jos de, Doornmalen, Antoon M. van, Muller, Michelle, Willemsen-Seegers, Nicole, Vu-Pham, Diep, Ouden, J.E. den, Altena, A.M. van, Massuger, L.F., Buijsman, Rogier C., Zaman, Guido J.R., Grobben, Yvonne, Man, Jos de, Doornmalen, Antoon M. van, Muller, Michelle, Willemsen-Seegers, Nicole, Vu-Pham, Diep, Ouden, J.E. den, Altena, A.M. van, Massuger, L.F., Buijsman, Rogier C., and Zaman, Guido J.R.

Abstract

Contains fulltext : 230830.pdf (publisher's version ) (Open Access)

Published
2021

11. Pharmacological validation of TDO as a target for Parkinson’s disease

Author

Afd Pharmacology, Pharmacology, Perez-Pardo, Paula, Grobben, Yvonne, Willemsen-Seegers, Nicole, Hartog, Mitch, Tutone, Michaela, Muller, Michelle, Adolfs, Youri, Pasterkamp, Ronald Jeroen, Vu-Pham, Diep, van Doornmalen, Antoon M., van Cauter, Freek, de Wit, Joeri, Gerard Sterrenburg, Jan, Uitdehaag, Joost C.M., de Man, Jos, Buijsman, Rogier C., Zaman, Guido J.R., Kraneveld, Aletta D., Afd Pharmacology, Pharmacology, Perez-Pardo, Paula, Grobben, Yvonne, Willemsen-Seegers, Nicole, Hartog, Mitch, Tutone, Michaela, Muller, Michelle, Adolfs, Youri, Pasterkamp, Ronald Jeroen, Vu-Pham, Diep, van Doornmalen, Antoon M., van Cauter, Freek, de Wit, Joeri, Gerard Sterrenburg, Jan, Uitdehaag, Joost C.M., de Man, Jos, Buijsman, Rogier C., Zaman, Guido J.R., and Kraneveld, Aletta D.

Published
2021

12. Pharmacological validation of TDO as a target for Parkinson’s disease

Author

TN groep Pasterkamp, Brain, Translational Neuroscience, Regenerative Medicine and Stem Cells, Perez-Pardo, Paula, Grobben, Yvonne, Willemsen-Seegers, Nicole, Hartog, Mitch, Tutone, Michaela, Muller, Michelle, Adolfs, Youri, Pasterkamp, Ronald Jeroen, Vu-Pham, Diep, van Doornmalen, Antoon M., van Cauter, Freek, de Wit, Joeri, Gerard Sterrenburg, Jan, Uitdehaag, Joost C.M., de Man, Jos, Buijsman, Rogier C., Zaman, Guido J.R., Kraneveld, Aletta D., TN groep Pasterkamp, Brain, Translational Neuroscience, Regenerative Medicine and Stem Cells, Perez-Pardo, Paula, Grobben, Yvonne, Willemsen-Seegers, Nicole, Hartog, Mitch, Tutone, Michaela, Muller, Michelle, Adolfs, Youri, Pasterkamp, Ronald Jeroen, Vu-Pham, Diep, van Doornmalen, Antoon M., van Cauter, Freek, de Wit, Joeri, Gerard Sterrenburg, Jan, Uitdehaag, Joost C.M., de Man, Jos, Buijsman, Rogier C., Zaman, Guido J.R., and Kraneveld, Aletta D.

Published
2021

14. Targeting Indoleamine 2,3-Dioxygenase in Cancer Models Using the Novel Small Molecule Inhibitor NTRC 3883-0

Author

Grobben, Yvonne, primary, de Man, Jos, additional, van Doornmalen, Antoon M., additional, Muller, Michelle, additional, Willemsen-Seegers, Nicole, additional, Vu-Pham, Diep, additional, Mulder, Winfried R., additional, Prinsen, Martine B. W., additional, de Wit, Joeri, additional, Sterrenburg, Jan Gerard, additional, van Cauter, Freek, additional, den Ouden, Judith E., additional, van Altena, Anne M., additional, Massuger, Leon F., additional, Uitdehaag, Joost C. M., additional, Buijsman, Rogier C., additional, and Zaman, Guido J. R., additional

Published
2021
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16. Sequential correspondence biases and perceptions of change: the Castro studies revisited

Author

Allison, Scott T., Mackie, Diane M., Muller, Michelle M., and Worth, Leila T.

Subjects
Prejudices -- Research, Attitude change -- Psychological aspects, Attribution (Social psychology) -- Research, Psychology and mental health
Abstract

In previous studies, Jones and Harris found that persons who wrote a favorable or unfavorable essay about Fidel Castro were judged as holding attitudes that corresponded to the essay's position, even when they had been compelled to endorse the position. The present research tested the robustness of this correspondence bias. In Study 1, subjects read two essays about Castro that they believed were written 9 months apart by the same author under forced-choice conditions. The correspondence bias emerged in subjects' judgments of the author's attitudes toward Castro at the time each essay was composed. Essay writers who endorsed two opposite positions were judged to have undergone greater attitude change than writers who twice endorsed the same position. Study 2 demonstrated the effect with an interval as brief as 1 week between constrained behaviors. These data underscore the robustness of the correspondence bias.

Published
1993

17. Congenital Rubella Syndrome Surveillance in South Africa Using a Sentinel Site Approach: A Cross-sectional Study

Author

Motaze, Nkengafac Villyen, primary, Manamela, Jack, additional, Smit, Sheilagh, additional, Rabie, Helena, additional, Harper, Kim, additional, duPlessis, Nicolette, additional, Reubenson, Gary, additional, Coetzee, Melantha, additional, Ballot, Daynia, additional, Moore, David, additional, Nuttall, James, additional, Linley, Lucy, additional, Tooke, Lloyd, additional, Kriel, Jeannette, additional, Hallbauer, Ute, additional, Sutton, Christopher, additional, Moodley, Pravi, additional, Hardie, Diana, additional, Mazanderani, Ahmad Haeri, additional, Goosen, Felicity, additional, Kyaw, Thanda, additional, Leroux, Dave, additional, Hussain, Akhtar, additional, Singh, Radhika, additional, Kelly, Christopher, additional, Ducasse, Graham, additional, Muller, Michelle, additional, Blaauw, Magdaleen, additional, Hamese, Mohlabi, additional, Leeuw, Tumelo, additional, Mekgoe, Omphile, additional, Rakgole, Philemon, additional, Dungwa, Norman, additional, Maphosa, Thulisile, additional, Sanyane, Kgomotso, additional, Preiser, Wolfgang, additional, Cohen, Cheryl, additional, and Suchard, Melinda, additional

Published
2018
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21. SP019RECURRENT FXYD2 P.GLY41ARG MUTATION IN PATIENTS WITH ISOLATED DOMINANT HYPOMAGNESEMIA

Author

de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.m., Hoenderop, Joost G.j., Devuyst, Olivier, Knoers, Nine V.A.M., de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.m., Hoenderop, Joost G.j., Devuyst, Olivier, and Knoers, Nine V.A.M.

Published
2017

24. Congenital Rubella Syndrome Surveillance in South Africa Using a Sentinel Site Approach: A Cross-sectional Study.

Author

Motaze, Nkengafac Villyen, Nuttall, James, Linley, Lucy, Tooke, Lloyd, Kriel, Jeannette, Hallbauer, Ute, Sutton, Christopher, Moodley, Pravi, Hardie, Diana, Goosen, Felicity, Kyaw, Thanda, Leroux, Dave, Manamela, Jack, Smit, Sheilagh, Mazanderani, Ahmad Haeri, Hussain, Akhtar, Singh, Radhika, Kelly, Christopher, Ducasse, Graham, and Muller, Michelle

Subjects
RUBELLA vaccines, AGE distribution, CATARACT, CONGENITAL heart disease, CLINICAL pathology, GENETIC disorders, IMMUNIZATION, LONGITUDINAL method, RESEARCH methodology, MEDICAL protocols, MEDICAL records, MOTHER-infant relationship, MOTHERS, PUBLIC health surveillance, HUMAN services programs, RUBELLA, CROSS-sectional method, RETROSPECTIVE studies, PREVENTION, VACCINATION, THERAPEUTICS
Abstract

Background Congenital rubella syndrome (CRS) includes disorders associated with intrauterine rubella infection. Incidence of CRS is higher in countries with no rubella-containing vaccines (RCV) in their immunization schedules. In the World Health Organization African region, RCVs are being introduced as part of the 2012–2020 global measles and rubella strategic plan. This study aimed to describe the epidemiology of confirmed CRS in South Africa prior to introduction of RCVs in the immunization schedule. Methods This was a descriptive study with 28 sentinel sites reporting laboratory-confirmed CRS cases in all 9 provinces of South Africa. In the retrospective phase (2010 to 2014), CRS cases were retrieved from medical records, and in the prospective phase (2015 to 2017) clinicians at study sites reported CRS cases monthly. Results There were 42 confirmed CRS cases in the retrospective phase and 53 confirmed CRS cases in the prospective phase. Most frequently reported birth defects were congenital heart disease and cataracts. The median age of mothers of CRS cases was 21 years in the retrospective phase (range: 11 to 38 years) and 22 years in the prospective phase (range: 15 to 38 years). Conclusion Baseline data on laboratory-confirmed CRS will enable planning and monitoring of RCV implementation in the South African Expanded Programme on Immunization program. Ninety-eight percent of mothers of infants with CRS were young women 14–30 years old, indicating a potential immunity gap in this age group for consideration during introduction of RCV. [ABSTRACT FROM AUTHOR]

Published
2019
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25. Quantifying iron levels in the YAC128 mouse model of Huntington's Disease

Author

Muller, Michelle

Abstract

Huntington's Disease (HD) is one of many neurodegenerative diseases with reported alterations in brain iron homeostasis. Many neurodegenerative diseases exist which are characterized by brain iron accumulation. Whether elevated brain iron occurs in HD, and whether it plays a significant contributory role in pathogenesis or is a secondary effect is currently unclear. Iron accumulation in specific brain areas of neurodegeneration in HD has been proposed based on observations in post-mortem tissue and magnetic resonance imaging (MRI) studies. Altered MRI signal within specific brain regions undergoing neurodegeneration has been consistently reported and interpreted as altered levels of brain iron. Biochemical studies using various techniques to measure iron species in human samples, mouse tissue, or in vitro has generated equivocal data to support such an association. I have reviewed previous and current published literature reporting iron alterations and summarized the findings in this dissertation. Current consensus remains unclear if iron plays a contributing role, and further studies that modulate iron levels in HD models to assess the effects of iron are required. The experimental aim of this thesis was to measure iron-related changes in the YAC128 HD mouse model with the hypothesis that this mouse model will develop elevated striatal iron levels compared with wild-type littermates. Using analytical techniques to measure levels of elemental brain iron, no significant differences were observed in various brain regions of aged HD mice and in post-mortem HD samples.

Published
2014
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26. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Author

de Baaij, Jeroen H. F., Dorresteijn, Eiske M., Hennekam, Eric A. M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, Rene J. M., Hoenderop, Joost G. J., Devuyst, Olivier, Knoers, Nine V. A. M., de Baaij, Jeroen H. F., Dorresteijn, Eiske M., Hennekam, Eric A. M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, Rene J. M., Hoenderop, Joost G. J., Devuyst, Olivier, and Knoers, Nine V. A. M.

Published
2015

27. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Author

Genetica, Genetica Klinische Genetica, de Baaij, Jeroen H. F., Dorresteijn, Eiske M., Hennekam, Eric A. M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, Rene J. M., Hoenderop, Joost G. J., Devuyst, Olivier, Knoers, Nine V. A. M., Genetica, Genetica Klinische Genetica, de Baaij, Jeroen H. F., Dorresteijn, Eiske M., Hennekam, Eric A. M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, Rene J. M., Hoenderop, Joost G. J., Devuyst, Olivier, and Knoers, Nine V. A. M.

Published
2015

28. SP019RECURRENT FXYD2 P.GLY41ARG MUTATION IN PATIENTS WITH ISOLATED DOMINANT HYPOMAGNESEMIA

Author

de Baaij, Jeroen H.F., primary, Dorresteijn, Eiske M., additional, Hennekam, Eric A.M., additional, Kamsteeg, Erik-Jan, additional, Meijer, Rowdy, additional, Dahan, Karin, additional, Muller, Michelle, additional, van den Dorpel, Marinus A., additional, Bindels, René J.m., additional, Hoenderop, Joost G.j., additional, Devuyst, Olivier, additional, and Knoers, Nine V.A.M., additional

Published
2015
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29. An Unusual Cause of Widespread Lytic Bone Lesions Caused by Sarcoidosis

Author

Mehrotra, Pallavi, Muller, Michelle, Higgins, Bernard, Zammit-Maempel, Ivan, Mehrotra, Pallavi, Muller, Michelle, Higgins, Bernard, and Zammit-Maempel, Ivan

Abstract

We present a case of a 59 year old asymptomatic lady who was found to have incidental findings of pulmonary, osseous and hepatic involvement with sarcoidosis. The osseous lesions were lytic and involved unusual sites such as the vertebrae and skull base. The initial clinical concern had been of multiple myeloma or disseminated metastases. Biopsy of material obtained following mediastinoscopy revealed chronic, non-necrotising granulomatous lymphadenopathy indicative of sarcoidosis. Cases such as this could greatly benefit from multidisciplinary team discussion particularly when the clinical picture is not typical of malignancy.

Published
2011

32. Accuracy of the Interpretation of Chest Radiographs for the Diagnosis of Paediatric Pneumonia.

Author

Elemraid, Mohamed A., Muller, Michelle, Spencer, David A., Rushton, Stephen P., Gorton, Russell, Thomas, Matthew F., Eastham, Katherine M., Hampton, Fiona, Gennery, Andrew R., and Clark, Julia E.

Subjects
*PNEUMONIA, *ETIOLOGY of diseases, *MEDICAL radiography, *JUVENILE diseases, *CLINICAL medicine
Abstract

Introduction: World Health Organization (WHO) radiological classification remains an important entry criterion in epidemiological studies of pneumonia in children. We report inter-observer variability in the interpretation of 169 chest radiographs in children suspected of having pneumonia. Methods: An 18-month prospective aetiological study of pneumonia was undertaken in Northern England. Chest radiographs were performed on eligible children aged ≤16 years with clinical features of pneumonia. The initial radiology report was compared with a subsequent assessment by a consultant cardiothoracic radiologist. Chest radiographic changes were categorised according to the WHO classification. Results: There was significant disagreement (22%) between the first and second reports (kappa = 0.70, P<0.001), notably in those aged <5 years (26%, kappa = 0.66, P<0.001). The most frequent sources of disagreement were the reporting of patchy and perihilar changes. Conclusion: This substantial inter-observer variability highlights the need for experts from different countries to create a consensus to review the radiological definition of pneumonia in children. [ABSTRACT FROM AUTHOR]

Published
2014
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33. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Author

de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.M., Hoenderop, Joost G.J., Devuyst, Olivier, Knoers, Nine V.A.M., de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.M., Hoenderop, Joost G.J., Devuyst, Olivier, and Knoers, Nine V.A.M.

Abstract

Background Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levels <0.7 mmol/L may cause a heterogeneous clinical phenotype, including muscle cramps and epilepsy and disturbances in K+ and Ca2+ homeostasis. Over the last decade, the genetic origin of several familial forms of hypomagnesaemia has been found. In 2000, mutations in FXYD2, encoding the γ-subunit of the Na+-K+-ATPase, were identified to cause isolated dominant hypomagnesaemia (IDH) in a large Dutch family suffering from hypomagnesaemia, hypocalciuria and chondrocalcinosis. However, no additional patients have been identified since then. Methods Here, two families with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. Moreover, the patients were clinically and genetically characterized. Results We report a p.Gly41Arg FXYD2 mutation in two families with hypomagnesaemia and hypocalciuria. Interestingly, this is the same mutation as was described in the original study. As in the initial family, several patients suffered from muscle cramps, chondrocalcinosis and epilepsy. Haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect. Conclusions The recurrent p.Gly41Arg FXYD2 mutation in two new families with IDH confirms that FXYD2 mutation causes hypomagnesaemia. Until now, no other FXYD2 mutations have been reported which could indicate that other FXYD2 mutations will not cause hypomagnesaemia or are embryonically lethal

34. SP019RECURRENT FXYD2 P.GLY41ARG MUTATION IN PATIENTS WITH ISOLATED DOMINANT HYPOMAGNESEMIA

Author

de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.m., Hoenderop, Joost G.j., Devuyst, Olivier, Knoers, Nine V.A.M., de Baaij, Jeroen H.F., Dorresteijn, Eiske M., Hennekam, Eric A.M., Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A., Bindels, René J.m., Hoenderop, Joost G.j., Devuyst, Olivier, and Knoers, Nine V.A.M.

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