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13 results on '"Grumach AS"'

1. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Author

de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, and Félix, Têmis Maria

Published
2024
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3. Correction to: The International/Canadian Hereditary Angioedema Guideline

Author

Betschel, Stephen, Badiou, Jacquie, Binkley, Karen, Borici-Mazi, Rozita, Hébert, Jacques, Kanani, Amin, Keith, Paul, Lacuesta, Gina, Waserman, Susan, Yang, Bill, Aygören-Pürsün, Emel, Bernstein, Jonathan, Bork, Konrad, Caballero, Teresa, Cicardi, Marco, Craig, Timothy, Farkas, Henriette, Grumach, Anete, Katelaris, Connie, Longhurst, Hilary, Riedl, Marc, Zuraw, Bruce, Berger, Magdelena, Boursiquot, Jean-Nicolas, Boysen, Henrik, Castaldo, Anthony, Chapdelaine, Hugo, Connors, Lori, Fu, Lisa, Goodyear, Dawn, Haynes, Alison, Kamra, Palinder, Kim, Harold, Lang-Robertson, Kelly, Leith, Eric, McCusker, Christine, Moote, Bill, O’Keefe, Andrew, Othman, Ibraheem, Poon, Man-Chiu, Ritchie, Bruce, St-Pierre, Charles, Stark, Donald, and Tsai, Ellie

Published
2020
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4. The International/Canadian Hereditary Angioedema Guideline

Author

Betschel, Stephen, Badiou, Jacquie, Binkley, Karen, Borici-Mazi, Rozita, Hébert, Jacques, Kanani, Amin, Keith, Paul, Lacuesta, Gina, Waserman, Susan, Yang, Bill, Aygören-Pürsün, Emel, Bernstein, Jonathan, Bork, Konrad, Caballero, Teresa, Cicardi, Marco, Craig, Timothy, Farkas, Henriette, Grumach, Anete, Katelaris, Connie, Longhurst, Hilary, Riedl, Marc, Zuraw, Bruce, Berger, Magdelena, Boursiquot, Jean-Nicolas, Boysen, Henrik, Castaldo, Anthony, Chapdelaine, Hugo, Connors, Lori, Fu, Lisa, Goodyear, Dawn, Haynes, Alison, Kamra, Palinder, Kim, Harold, Lang-Robertson, Kelly, Leith, Eric, McCusker, Christine, Moote, Bill, O’Keefe, Andrew, Othman, Ibraheem, Poon, Man-Chiu, Ritchie, Bruce, St-Pierre, Charles, Stark, Donald, and Tsai, Ellie

Published
2019
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7. The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update

Author

Maurer, Marcus, Magerl, Markus, Ansotegui, Ignacio, Aygören-Pürsün, Emel, Betschel, Stephen, Bork, Konrad, Bowen, Tom, Boysen, Henrik Balle, Farkas, Henriette, Grumach, Anete S., Hide, Michihiro, Katelaris, Constance, Lockey, Richard, Longhurst, Hilary, Lumry, William R., Martinez-Saguer, Inmaculada, Moldovan, Dumitru, Nast, Alexander, Pawankar, Ruby, Potter, Paul, Riedl, Marc, Ritchie, Bruce, Rosenwasser, Lanny, Sánchez-Borges, Mario, Zhi, Yuxiang, Zuraw, Bruce, and Craig, Timothy

Published
2018
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8. Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE).

Author

Palao-Ocharan, Paola, Prior, Nieves, Pérez-Fernández, Elia, Caminoa, Magdalena, DV-HAE-QoL Study Group, Aberer, W., Betschel, S., Bygum, A., Campos, R. A., Csuka, D., Farkas, H., Gómez-Traseira, C., Grumach, A. S., Leibovich, I., Malbran, A., Moldovan, D., Mihaly, E., Obtulowicz, K., Porebski, G., and Reshef, A.

Subjects
CRONBACH'S alpha, ANGIONEUROTIC edema, INTRACLASS correlation, PSYCHOMETRICS, TEST validity, STATISTICAL reliability
Abstract

Background: The generic 36-item Short-Form Health Survey (SF-36v2) has been used to assess health related quality of life in adult patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) even though it has not yet been validated for use in this specific disease.Objective: This study aims to validate the SF-36v2 for use in adult patients with C1-INH-HAE.Results: There was a very low item non-response rate (1-3.4%), with a high ceiling effect in 25/35 items and a low floor effect in 3/35 items. A moderate ceiling effect was observed in 5/8 dimensions of the SF-36v2, whereas no floor effect was noticed in any of the dimensions. Internal consistency was good to excellent with Cronbach's alpha coefficient ranging between 0.82 and 0.93 for the different dimensions. Construct validity was good: seven out of the 8 hypotheses defined on clinical criteria were confirmed, discriminant validity assessment showed significant differences among patients with different C1-INH-HAE severity, convergent validity showed a good correlation among the physical and mental component summaries of the SF-36v2 and the HAE-QoL total score (0.45 and 0.64 respectively, P < 0.001). Test-retest reliability was high with intraclass correlation coefficient varying from 0.758 to 0.962. The minimal clinically important difference was calculated by distribution methods and small differences in the domain scores and in the component summaries scores were shown to be meaningful.  CONCLUSIONS: The psychometric properties of the SF-36v2 show it can be a useful tool to assess HRQoL in adult patients with C1-INH-HAE, although with some content validity limitation.Methods: The psychometric properties of the SF-36v2 were evaluated in an international setting based on responses from 290 adult C1-INH-HAE patients in 11 countries. [ABSTRACT FROM AUTHOR]

Published
2022
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9. Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey

Author

Pere Soler-Palacín, João Farela Neves, Markus G. Seidel, Grant Hayman, Richard Herriot, Anete Sevciovic Grumach, Ekaterini Goudouris, Annet Simons, Stefanie S. V. Henriet, E. J. H. Schatorje, Elisabeth Förster-Waldl, Michael J. Browning, Donald C. Vinh, Michiel van der Flier, Megan Morsheimer, Esther de Vries, Laia Alsina, Mikko Seppänen, Thomas G. Boyce, Fatih Celmeli, Clinicum, Children's Hospital, HUS Children and Adolescents, Tranzo, Scientific center for care and wellbeing, and Huisarts & Ziekenhuis

Subjects
0301 basic medicine, Male, ANTIBODY DEFICIENCY, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], CHILDREN, Chromosomal aberration, IGA DEFICIENCY, JACOBSEN-SYNDROME, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], Surveys and Questionnaires, HDE PED, Genetics(clinical), Pharmacology (medical), Young adult, Antibiotic prophylaxis, IgG Deficiency, Child, Genetics (clinical), Immunodeficiency, Medicine(all), Primary immunodeficiency, Respiratory tract infections, TRISOMY 10P, General Medicine, Middle Aged, 3. Good health, Child, Preschool, Female, Recurrent infections, Adult, medicine.medical_specialty, Adolescent, Immunology, COMMON VARIABLE IMMUNODEFICIENCY, PATIENT, RING CHROMOSOME-18, 03 medical and health sciences, Young Adult, Internal medicine, Intellectual Disability, Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections, Journal Article, medicine, Genetics, Humans, Aged, Retrospective Studies, Chromosome Aberrations, business.industry, Common variable immunodeficiency, Research, DELETION SYNDROME, Immunologic Deficiency Syndromes, Infant, Retrospective cohort study, Mental retardation, medicine.disease, REFERENCE VALUES, 030104 developmental biology, IgG deficiency, 3111 Biomedicine, business
Abstract

Background Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. Methods All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data. Results Forty-six patients were included from 16 centers (24 males, 22 females; median age 10.4 years [range 1.0–69.2 years]; 36 pediatric, 10 adult patients). A variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immune deficiency was reported. The most important clinical presentation prompting the immunological evaluation was ‘recurrent ear-nose-throat (ENT) and airway infections’. Immunoglobulin isotype and/or IgG-subclass deficiencies were the most prevalent immunological abnormalities reported. Conclusions Our survey yielded a wide variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immunodeficiency. Although respiratory tract infections can often also be ascribed to other causes (e.g. aspiration or structural abnormalities), we show that a significant proportion of patients also have an antibody deficiency requiring specific treatment (e.g. immunoglobulin replacement, antibiotic prophylaxis). Therefore, it is important to perform immunological investigations in patients with chromosomal aberrations and recurrent ENT or airway infections, to identify potential immunodeficiency that can be specifically treated. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0492-1) contains supplementary material, which is available to authorized users.

Published
2016

10. Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Author

Schatorjé, Ellen, van der Flier, Michiel, Seppänen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, João Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Förster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, de Vries, Esther, Schatorjé, Ellen, van der Flier, Michiel, Seppänen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, João Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Förster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, and de Vries, Esther

Published
2016

11. Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Author

University of Helsinki, Clinicum, Schatorje, Ellen, van der Flier, Michiel, Seppanen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, Joao Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Forster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, de Vries, Esther, University of Helsinki, Clinicum, Schatorje, Ellen, van der Flier, Michiel, Seppanen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, Joao Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Forster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, and de Vries, Esther

Abstract

Background: Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. Methods: All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data. Results: Forty-six patients were included from 16 centers (24 males, 22 females; median age 10.4 years [range 1.0-69. 2 years]; 36 pediatric, 10 adult patients). A variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immune deficiency was reported. The most important clinical presentation prompting the immunological evaluation was 'recurrent ear-nose-throat (ENT) and airway infections'. Immunoglobulin isotype and/or IgG-subclass deficiencies were the most prevalent immunological abnormalities reported. Conclusions: Our survey yielded a wide variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immunodeficiency. Although respiratory tract infections can often also be ascribed to other causes (e.g. aspiration or structural abnormalities), we show that a significant proportion of patients also have an antibody deficiency requiring specific treatment (e.g. immunoglobulin replacement, antibiotic prophylaxis). Therefore, it is important to perform immunological investigations in patients with chromosomal aberrations and recurrent ENT or airway infections, to identify potential immunodeficiency that can be specifically treated.

Published
2016

12. Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Author

Reumatologie patientenzorg, Schatorjé, Ellen, van der Flier, Michiel, Seppänen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, João Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Förster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, de Vries, Esther, Reumatologie patientenzorg, Schatorjé, Ellen, van der Flier, Michiel, Seppänen, Mikko, Browning, Michael, Morsheimer, Megan, Henriet, Stefanie, Neves, João Farela, Vinh, Donald Cuong, Alsina, Laia, Grumach, Anete, Soler-Palacin, Pere, Boyce, Thomas, Celmeli, Fatih, Goudouris, Ekaterini, Hayman, Grant, Herriot, Richard, Förster-Waldl, Elisabeth, Seidel, Markus, Simons, Annet, and de Vries, Esther

Published
2016

13. Lymphocyte transformation assay for C neoformans antigen is not reliable for detecting cellular impairment in patients with Neurocryptococcosis.

Author

Rocha, Katya C., Pinhal, Cinthia, Cavalcanti, S“nia, Vidal, Monica S. M., Toscano, Matheus, Moraes-Vasconcelos, Dewton, Duarte, Alberto J. S., Fonseca, Fernando L. A., de Abreu, Luiz Carlos, Valenti, Vitor E., and Grumach, Anete S. G.

Subjects
LYMPHOCYTES, NEISSERIA meningitidis, TUMOR necrosis factors, LYMPHOCYTE transformation, IMMUNOLOGY
Abstract

Background: Cryptococcus neoformans causes meningitis and disseminated infection in healthy individuals, but more commonly in hosts with defective immune responses. Cell-mediated immunity is an important component of the immune response to a great variety of infections, including yeast infections. We aimed to evaluate a specific lymphocyte transformation assay to Cryptococcus neoformans in order to identify immunodeficiency associated to neurocryptococcosis (NCC) as primary cause of the mycosis. Methods: Healthy volunteers, poultry growers, and HIV-seronegative patients with neurocryptococcosis were tested for cellular immune response. Cryptococcal meningitis was diagnosed by India ink staining of cerebrospinal fluid and cryptococcal antigen test (Immunomycol-Inc, SP, Brazil). Isolated peripheral blood mononuclear cells were stimulated with C. neoformans antigen, C. albicans antigen, and pokeweed mitogen. The amount of 3H-thymidine incorporated was assessed, and the results were expressed as stimulation index (SI) and log SI, sensitivity, specificity, and cut-off value (receiver operating characteristics curve). We applied unpaired Student t tests to compare data and considered significant differences for p<0.05. Results: The lymphotoxin alpha showed a low capacity with all the stimuli for classifying patients as responders and non-responders. Lymphotoxin alpha stimulated by heated-killed antigen from patients with neurocryptococcosis was not affected by TCD4+ cell count, and the intensity of response did not correlate with the clinical evolution of neurocryptococcosis. Conclusion: Response to lymphocyte transformation assay should be analyzed based on a normal range and using more than one stimulator. The use of a cut-off value to classify patients with neurocryptococcosis is inadequate. Statistical analysis should be based on the log transformation of SI. A more purified antigen for evaluating specific response to C. neoformans is needed. [ABSTRACT FROM AUTHOR]

Published
2012
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