115 results on '"Boguszewski, Margaret C S"'
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2. Growth hormone deficiency and replacement in children
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Boguszewski, Margaret C. S.
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- 2021
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3. Potential Effects of Oral Isotretinoin on Growth Plate and Height
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Cardoso-Demartini, Adriane A., primary, Boguszewski, Cesar Luiz, additional, and Boguszewski, Margaret C. S., additional
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- 2023
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4. International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood
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Hokken-Koelega, Anita C S, primary, van der Steen, Manouk, additional, Boguszewski, Margaret C S, additional, Cianfarani, Stefano, additional, Dahlgren, Jovanna, additional, Horikawa, Reiko, additional, Mericq, Veronica, additional, Rapaport, Robert, additional, Alherbish, Abdullah, additional, Braslavsky, Debora, additional, Charmandari, Evangelia, additional, Chernausek, Steven D, additional, Cutfield, Wayne S, additional, Dauber, Andrew, additional, Deeb, Asma, additional, Goedegebuure, Wesley J, additional, Hofman, Paul L, additional, Isganatis, Elvira, additional, Jorge, Alexander A, additional, Kanaka-Gantenbein, Christina, additional, Kashimada, Kenichi, additional, Khadilkar, Vaman, additional, Luo, Xiao-Ping, additional, Mathai, Sarah, additional, Nakano, Yuya, additional, and Yau, Mabel, additional
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- 2023
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5. From the Full KIGS Cohort: On Safety and Efficacy of Growth Hormone Treatment
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Abucham, Julio, primary and Boguszewski, Margaret C S, additional
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- 2022
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6. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement
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Boguszewski, Margaret C S, primary, Boguszewski, Cesar L, additional, Chemaitilly, Wassim, additional, Cohen, Laurie E, additional, Gebauer, Judith, additional, Higham, Claire, additional, Hoffman, Andrew R, additional, Polak, Michel, additional, Yuen, Kevin C J, additional, Alos, Nathalie, additional, Antal, Zoltan, additional, Bidlingmaier, Martin, additional, Biller, Beverley M K, additional, Brabant, George, additional, Choong, Catherine S Y, additional, Cianfarani, Stefano, additional, Clayton, Peter E, additional, Coutant, Regis, additional, Cardoso-Demartini, Adriane A, additional, Fernandez, Alberto, additional, Grimberg, Adda, additional, Guðmundsson, Kolbeinn, additional, Guevara-Aguirre, Jaime, additional, Ho, Ken K Y, additional, Horikawa, Reiko, additional, Isidori, Andrea M, additional, Jørgensen, Jens Otto Lunde, additional, Kamenicky, Peter, additional, Karavitaki, Niki, additional, Kopchick, John J, additional, Lodish, Maya, additional, Luo, Xiaoping, additional, McCormack, Ann I, additional, Meacham, Lillian, additional, Melmed, Shlomo, additional, Mostoufi Moab, Sogol, additional, Müller, Hermann L, additional, Neggers, Sebastian J C M M, additional, Aguiar Oliveira, Manoel H, additional, Ozono, Keiichi, additional, Pennisi, Patricia A, additional, Popovic, Vera, additional, Radovick, Sally, additional, Savendahl, Lars, additional, Touraine, Philippe, additional, van Santen, Hanneke M, additional, and Johannsson, Gudmundur, additional
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- 2022
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7. Safety of growth hormone replacement in survivors of cancer and intra-cranial and pituitary tumours - A consensus statement
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Endocrinologie patientenzorg, Brain, Child Health, Cancer, Boguszewski, Margaret C S, Boguszewski, Cesar L, Chemaitilly, Wassim, Cohen, Laurie E, Gebauer, Judith, Higham, Claire, Hoffman, Andrew R, Polak, Michel, Yuen, Kevin C J, Alos, Nathalie, Antal, Zoltan, Bidlingmaier, Martin, Biller, Beverly M K, Brabant, Georg, Choong, Catherine S Y, Cianfarani, Stefano, Clayton, Peter E, Coutant, Regis, Cardoso-Demartini, Adriane A, Fernandez, Alberto, Grimberg, Adda, Gudmundsson, Kolbeinn, Guevara-Aquirre, Jamie, Ho, Ken K Y, Horikawa, Reiko, Isidori, Andrea M, Jorgensen, Jens Otto Lunde, Kamenicky, Peter, Karavitaki, Niki, Kopchick, John J, Lodish, Maya, Luo, Xiao-Ping, McCormack, Ann I, Meacham, Lillian, Melmed, Shlomo, Sogol Mostoufi-Moab, Sogol, Müller, Hermann L, Neggers, Sebastian J C M M, Aguiar-Oliveira, Manuel H, Ozono, Keiichi, Pennisi, Patricia A, Popovic, Vera, Radovick, Sally, Savendahl, Lars, Touraine, Philippe, van Santen, Hanneke M, Johannsson, Gudmundur, Endocrinologie patientenzorg, Brain, Child Health, Cancer, Boguszewski, Margaret C S, Boguszewski, Cesar L, Chemaitilly, Wassim, Cohen, Laurie E, Gebauer, Judith, Higham, Claire, Hoffman, Andrew R, Polak, Michel, Yuen, Kevin C J, Alos, Nathalie, Antal, Zoltan, Bidlingmaier, Martin, Biller, Beverly M K, Brabant, Georg, Choong, Catherine S Y, Cianfarani, Stefano, Clayton, Peter E, Coutant, Regis, Cardoso-Demartini, Adriane A, Fernandez, Alberto, Grimberg, Adda, Gudmundsson, Kolbeinn, Guevara-Aquirre, Jamie, Ho, Ken K Y, Horikawa, Reiko, Isidori, Andrea M, Jorgensen, Jens Otto Lunde, Kamenicky, Peter, Karavitaki, Niki, Kopchick, John J, Lodish, Maya, Luo, Xiao-Ping, McCormack, Ann I, Meacham, Lillian, Melmed, Shlomo, Sogol Mostoufi-Moab, Sogol, Müller, Hermann L, Neggers, Sebastian J C M M, Aguiar-Oliveira, Manuel H, Ozono, Keiichi, Pennisi, Patricia A, Popovic, Vera, Radovick, Sally, Savendahl, Lars, Touraine, Philippe, van Santen, Hanneke M, and Johannsson, Gudmundur
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- 2022
8. Phisycal Activity, Sedentary Time And Cardiorespiratory Fitness in Brazilian Children: 3390 Board #295 June 2 2: 00 PM - 3: 30 PM
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Brito, Lilian M S, Leite, Neiva, Cat, Monica N L, and Boguszewski, Margaret C S
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- 2017
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9. Metabolic risk and television time in adolescent females
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Machado-Rodrigues, Aristides M., Leite, Neiva, Coelho-e-Silva, Manuel J., Enes, Fernando, Fernandes, Rômulo, Mascarenhas, Luís P. G., Boguszewski, Margaret C. S., and Malina, Robert M.
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- 2015
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10. Three-Year Growth Response to Growth Hormone Treatment in Very Young Children Born Small for Gestational Age—Data from KIGS
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Boguszewski, Margaret C. S., Lindberg, Anders, and Wollmann, Hartmut A.
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- 2014
11. Chiari I malformation with neurogenic hypertension: case report
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de Almeida Holanda, Maurus Marques, Ferreira, Christian Diniz, Rocha, Artur Bastos, Santos, Rayan Haquim Pinheiro, Neto, Normando Guedes Pereira, and Boguszewski, Margaret C. S.
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- 2012
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12. Growth Hormone Treatment in Short Children Born Prematurely—Data from KIGS
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Boguszewski, Margaret C. S., Karlsson, Hanna, Wollmann, Hartmut A., Wilton, Patrick, and Dahlgren, Jovanna
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- 2011
13. Growth hormone deficiency and replacement in children
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Boguszewski, Margaret C. S., primary
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- 2020
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14. Near-Adult Height After Growth Hormone Treatment in Children Born Prematurely—Data From KIGS
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Boguszewski, Margaret C S, primary, Carlsson, Martin, additional, Lindberg, Anders, additional, Dahlgren, Jovanna, additional, Aydin, Ferah, additional, Camacho-Hübner, Cecilia, additional, and Hokken-Koelega, Anita C S, additional
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- 2020
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15. Polymorphisms Identified in the Upstream Core Polyadenylation Signal of IGF1 Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment
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Coutinho, Debora C., Coletta, Rocio R. D., Costa, Elaine M. F., Pachi, Paulo R., Boguszewski, Margaret C. S., Damiani, Durval, Mendonca, Berenice B., Arnhold, Ivo J. P., and Jorge, Alexander A. L.
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- 2007
16. Diagnosis, Genetics, and Therapy of Short Stature in Children : A Growth Hormone Research Society International Perspective
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Collett-Solberg, Paulo F., Ambler, Geoffrey, Backeljauw, Philippe F., Bidlingmaier, Martin, Biller, Beverly M. K., Boguszewski, Margaret C. S., Cheung, Pik To, Choong, Catherine Seut Yhoke, Cohen, Laurie E., Cohen, Pinchas, Dauber, Andrew, Deal, Cheri L., Gong, Chunxiu, Hasegawa, Yukihiro, Hoffman, Andrew R., Hofman, Paul L., Horikawa, Reiko, Jorge, Alexander A. L., Juul, Anders, Kamenicky, Peter, Khadilkar, Vaman, Kopchick, John J., Kriström, Berit, Lopes, Maria de Lurdes A., Luo, Xiaoping, Miller, Bradley S., Misra, Madhusmita, Netchine, Irene, Radovick, Sally, Ranke, Michael B., Rogol, Alan D., Rosenfeld, Ron G., Saenger, Paul, Wit, Jan M., Woelfle, Joachim, Collett-Solberg, Paulo F., Ambler, Geoffrey, Backeljauw, Philippe F., Bidlingmaier, Martin, Biller, Beverly M. K., Boguszewski, Margaret C. S., Cheung, Pik To, Choong, Catherine Seut Yhoke, Cohen, Laurie E., Cohen, Pinchas, Dauber, Andrew, Deal, Cheri L., Gong, Chunxiu, Hasegawa, Yukihiro, Hoffman, Andrew R., Hofman, Paul L., Horikawa, Reiko, Jorge, Alexander A. L., Juul, Anders, Kamenicky, Peter, Khadilkar, Vaman, Kopchick, John J., Kriström, Berit, Lopes, Maria de Lurdes A., Luo, Xiaoping, Miller, Bradley S., Misra, Madhusmita, Netchine, Irene, Radovick, Sally, Ranke, Michael B., Rogol, Alan D., Rosenfeld, Ron G., Saenger, Paul, Wit, Jan M., and Woelfle, Joachim
- Abstract
The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.
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- 2019
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17. Relationship Between Metabolic Syndrome and Moderate-to-Vigorous Physical Activity in Youth.
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Machado-Rodrigues, Aristides M., Leite, Neiva, Coelho e. Silva, Manuel J., Valente-dos-Santos, João, Martins, Raul A., Mascarenhas, Luis P. G., Boguszewski, Margaret C. S., Padez, Cristina, and Malina, Robert M.
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METABOLIC syndrome ,PHYSICAL activity ,HEALTH behavior ,PHYSICAL fitness ,METABOLIC disorders ,REGRESSION analysis ,TRIGLYCERIDES - Abstract
Background: Associations of metabolic syndrome (MetS) with lifestyle behaviors in youth is potentially important for identifying subgroups at risk and encourage interventions. This study evaluates the associations among the clustering of metabolic risk factors and moderate-to-vigorous physical activity (MVPA) in youth. Methods-. The sample comprised 522 girls and 402 boys (N = 924) aged 11 to 17 years. Height, weight, waist circumference (WC), fasting glucose, high-density lipoprotein cholesterol, triglycerides, and blood pressures were measured. Cardiorespiratory fitness (CRF) was assessed using the 20-m shuttle run test. MVPA was estimated with a 3-day diary. Outcome variables were statistically normalized and expressed as z scores. A clustered metabolic risk score was computed as the mean of z scores. Multiple linear regression was used to test associations between metabolic risk and MVPA by sex, adjusted for age, WC, and CRF. Results: After adjustment for potential confounders, MVPA was inversely associated with the clustering of metabolic risk factors in girls, but not in boys; in addition, after adjusting for WC, the statistical model of that relationship was substantially improved in girls. Conclusion-. MVPA was independently associated with increased risk of MetS in girls. Additional efforts are needed to encourage research with different analytical approach and standardization of criteria for MetS in youth. [ABSTRACT FROM AUTHOR]
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- 2015
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18. In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene
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de Lacerda, Luiz, Carvalho, Julienne A. R., Stannard, Bethel, Werner, Haim, Boguszewski, Margaret C. S., Sandrini, Romolo, Malozowski, Saul N., LeRoith, Derek, and Underwood, Louis E.
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- 1999
19. Vitamin D deficiency in girls from South Brazil: a cross-sectional study on prevalence and association with vitamin D receptor gene variants
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Santos Betânia R, Mascarenhas Luis P G, Satler Fabíola, Boguszewski Margaret C S, and Spritzer Poli
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25-hydroxyvitamin D ,VDR gene polymorphisms ,Pediatric female population ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Vitamin D deficiency has been associated with a multitude of disorders including diabetes, defective insulin secretion as well as rickets and poor bone health. Vitamin D is also a concern during childhood and adolescence and has been reported in girls from South Brazil. We determined the prevalence of vitamin D deficiency in girls from South Brazil and investigated whether the genotypic distribution of the BsmI, ApaI and TaqI polymorphisms of the VDR gene and their haplotypes were associated with vitamin D levels. Methods Cross-sectional study including 234 apparently healthy girls aged 7 to 18 years. Height and weight were measured for calculation of body mass index (BMI) percentiles for age. Plasma levels of 25-hydroxyvitamin D [25(OH)D] were assessed. Participants were genotyped for ApaI (rs7975232), TaqI (rs731236), and BsmI (rs1544410) SNPs. Results The median and interquartile range (25-75%) of BMI percentile was 62.0 (33.3 – 84.9). The frequency of overweight/obesity was 24.9%. Circulating levels of 25(OH)D (≥ 30 ng/mL) were adequate in 9.4%; insufficient in 54.3% (20–29 ng/mL); and deficient in 36.3% (< 20 ng/mL). Genotype frequencies were GG = 47.0%, GA = 41.5%, and AA = 11.5% for BsmI; GG = 16.7%, GT = 52.6%, and TT = 30.8% for ApaI; TT = 46.2%, TC = 44.9% and CC = 9.0% for TaqI. Genotypes with no gene variance (ancestral wild genotype) of BsmI (GG vs. GA + AA, two-tailed Student’s t-test p vs. GT + TT, two-tailed Student’s t-test p = 0.031) and TaqI (TT vs. TC + CC, two-tailed Student’s t-test p = 0.005) SNPs and the GGT haplotype (two-tailed Student’s t-test p = 0.036) were significantly associated with lower 25(OH)D levels. Conclusions 25-hydroxyvitamin D deficiency and insufficiency were highly prevalent in this sample. The BsmI, ApaI and TaqI wild variants of the VDR gene, as well as the GGT haplotype, were associated with lower vitamin D levels, suggesting that VDR gene polymorphisms could be linked to higher susceptibility to vitamin D deficiency in a sub-population of children and adolescents.
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- 2012
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20. Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations: Table 1
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Hoffman, Andrew R., Christiansen, Jens Sandahl, Holly, Jeff M. P., Misra, Madhusmita, Lee, Jorgensen, Jens Otto L., Melmed, Shlomo, Katznelson, Laurence, Luo, Xiaoping, Strasburger, Christian J., Horikawa, Reiko, Miller, Bradley S., Grimberg, Adda, Hasegawa, Yukihiro, Backeljauw, Philippe F., Höybye, Charlotte, Johannsson, Gudmundur, Thorner, Michael O., Kopchick, John J., Choong, Catherine S., Boguszewski, Margaret C. S., Yuen, Kevin, Cohen, Laurie E., Ross, Judith, Ho, Ken, Popovic, Vera, Clemmons, David R., Saenger, Paul, Rosenfeld, Ron G., Juul, Anders, Casanueva, Felipe F., Lee, Kuk-Wha, Chanson, Philippe, Bidlingmaier, Martin, Haymond, Morey W., Cohen, Pinchas, Frystyk, Jan, Biller, Beverly M. K., Chatelain, Pierre, Ross, Richard J., and Werner, Haim
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fungi - Abstract
The Growth Hormone (GH) Research Society (GRS) convened a workshop to address important issues regarding trial design, efficacy, and safety of long-acting growth hormone preparations (LAGH).
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- 2016
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21. Postnatal management of growth failure in children born small for gestational age.
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Cardoso-Demartini, Adriane A., Boguszewski, Margaret C. S., and Alves, Cresio A. D.
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GROWTH of children ,GESTATIONAL age ,ETIOLOGY of diseases ,SOMATOTROPIN ,STATURE - Abstract
Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2019
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22. Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations
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Christiansen, Jens Sandahl, Backeljauw, Philippe F, Bidlingmaier, Martin, Biller, Beverly M K, Boguszewski, Margaret C S, Casanueva, Felipe F, Chanson, Philippe, Chatelain, Pierre, Choong, Catherine S, Clemmons, David R, Cohen, Laurie E, Cohen, Pinchas, Frystyk, Jan, Grimberg, Adda, Hasegawa, Yukihiro, Haymond, Morey W, Ho, Ken, Hoffman, Andrew R, Holly, Jeff M P, Horikawa, Reiko, Höybye, Charlotte, Jorgensen, Jens Otto Lunde, Johannsson, Gudmundur, Juul, Anders, Katznelson, Laurence, Kopchick, John J., Lee, K O, Lee, Kuk-Wha, Luo, Xiaoping, Melmed, Shlomo, Miller, Bradley S, Misra, Madhusmita, Popovic, Vera, Rosenfeld, Ron G, Ross, Judith, Ross, Richard J, Saenger, Paul, Strasburger, Christian J, Thorner, Michael O, Werner, Haim, Yuen, Kevin C J, Christiansen, Jens Sandahl, Backeljauw, Philippe F, Bidlingmaier, Martin, Biller, Beverly M K, Boguszewski, Margaret C S, Casanueva, Felipe F, Chanson, Philippe, Chatelain, Pierre, Choong, Catherine S, Clemmons, David R, Cohen, Laurie E, Cohen, Pinchas, Frystyk, Jan, Grimberg, Adda, Hasegawa, Yukihiro, Haymond, Morey W, Ho, Ken, Hoffman, Andrew R, Holly, Jeff M P, Horikawa, Reiko, Höybye, Charlotte, Jorgensen, Jens Otto Lunde, Johannsson, Gudmundur, Juul, Anders, Katznelson, Laurence, Kopchick, John J., Lee, K O, Lee, Kuk-Wha, Luo, Xiaoping, Melmed, Shlomo, Miller, Bradley S, Misra, Madhusmita, Popovic, Vera, Rosenfeld, Ron G, Ross, Judith, Ross, Richard J, Saenger, Paul, Strasburger, Christian J, Thorner, Michael O, Werner, Haim, and Yuen, Kevin C J
- Abstract
OBJECTIVE: The Growth Hormone (GH) Research Society (GRS) convened a workshop to address important issues regarding trial design, efficacy, and safety of long-acting growth hormone preparations (LAGH).PARTICIPANTS: A closed meeting of 55 international scientists with expertise in GH, including pediatric and adult endocrinologists, basic scientists, regulatory scientists, and participants from the pharmaceutical industry.EVIDENCE: Current literature was reviewed for gaps in knowledge. Expert opinion was used to suggest studies required to address potential safety and efficacy issues.CONSENSUS PROCESS: Following plenary presentations summarizing the literature, breakout groups discussed questions framed by the planning committee. Attendees reconvened after each breakout session to share group reports. A writing team compiled the breakout session reports into a draft document that was discussed and revised in an open forum on the concluding day. This was edited further and then circulated to attendees from academic institutions for review after the meeting. Participants from pharmaceutical companies did not participate in the planning, writing, or in the discussions and text revision on the final day of the workshop. Scientists from industry and regulatory agencies reviewed the manuscript to identify any factual errors.CONCLUSIONS: LAGH compounds may represent an advance over daily GH injections because of increased convenience and differing phamacodynamic properties, providing the potential for improved adherence and outcomes. Better methods to assess adherence must be developed and validated. Long-term surveillance registries that include assessment of efficacy, cost-benefit, disease burden, quality of life, and safety are essential for understanding the impact of sustained exposure to LAGH preparations.
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- 2016
23. From the Full KIGS Cohort: On Safety and Efficacy of Growth Hormone Treatment.
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Abucham, Julio and Boguszewski, Margaret C. S.
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SOMATOTROPIN ,DRUG efficacy - Published
- 2023
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24. Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations
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Christiansen, Jens Sandahl, primary, Backeljauw, Philippe F, additional, Bidlingmaier, Martin, additional, Biller, Beverly M K, additional, Boguszewski, Margaret C S, additional, Casanueva, Felipe F, additional, Chanson, Philippe, additional, Chatelain, Pierre, additional, Choong, Catherine S, additional, Clemmons, David R, additional, Cohen, Laurie E, additional, Cohen, Pinchas, additional, Frystyk, Jan, additional, Grimberg, Adda, additional, Hasegawa, Yukihiro, additional, Haymond, Morey W, additional, Ho, Ken, additional, Hoffman, Andrew R, additional, Holly, Jeff M P, additional, Horikawa, Reiko, additional, Höybye, Charlotte, additional, Jorgensen, Jens Otto L, additional, Johannsson, Gudmundur, additional, Juul, Anders, additional, Katznelson, Laurence, additional, Kopchick, John J, additional, Lee, K O, additional, Lee, Kuk-Wha, additional, Luo, Xiaoping, additional, Melmed, Shlomo, additional, Miller, Bradley S, additional, Misra, Madhusmita, additional, Popovic, Vera, additional, Rosenfeld, Ron G, additional, Ross, Judith, additional, Ross, Richard J, additional, Saenger, Paul, additional, Strasburger, Christian J, additional, Thorner, Michael O, additional, Werner, Haim, additional, and Yuen, Kevin, additional
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- 2016
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25. Perfil glicêmico e lipídico em meninos de diferentes classes sociais
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Smolarek, André de Camargo, Dellagrana, Rodolfo André, Mascarenhas, Luis Paulo Gomes, Silva, Michael PereirA, Gasparotto, Guilherme da Silva, Boguszewski, Margaret C. S., Guimarães, Roseane Fátima, and Campos, Wagner de
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lcsh:Public aspects of medicine ,Socioeconômico, Glicemia, Lipídeos, Lipoproteínas, Meninos ,Meninos ,lcsh:RA1-1270 ,Socioeconômico ,Lipídeos ,Lipoproteínas ,Glicemia - Abstract
Estudos sugerem que o nível socioeconômico (NSE) exerce influência no distúrbio metabólico, desta forma o presente estudo visou verificar as diferenças do perfil glicêmico e lipídico em meninos de diferentes classes sociais da cidade de Curitiba, Paraná. A amostra constituiu-se de 123 meninos (14,0±2,2 anos) sendo avaliado o perfil antropométrico, NSE, perfil glicêmico e lipídico. A análise estatística foi descritiva e para verificar as diferenças entre os níveis foi utilizado a ANOVA one-way com post hoc de Bonferroni com p< 0,05. Meninos de médio e alto NSE apresentaram maiores valores médios de glicemia em jejum, triglicerídeos (TG) e LDL-c do que indivíduos de baixo NSE (p
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- 2012
26. Metabolic risk and television time in adolescent females
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Machado-Rodrigues, Aristides M., primary, Leite, Neiva, additional, Coelho-e-Silva, Manuel J., additional, Enes, Fernando, additional, Fernandes, Rômulo, additional, Mascarenhas, Luís P. G., additional, Boguszewski, Margaret C. S., additional, and Malina, Robert M., additional
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- 2014
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27. Independent association of clustered metabolic risk factors with cardiorespiratory fitness in youth aged 11–17 years
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Machado-Rodrigues, Aristides M., primary, Leite, Neiva, additional, Coelho-e-Silva, Manuel J., additional, Martins, Raul A., additional, Valente-dos-Santos, João, additional, Mascarenhas, Luís P. G., additional, Boguszewski, Margaret C. S., additional, Padez, Cristina, additional, and Malina, Robert M., additional
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- 2014
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28. Reappraisal of serum insulin-like growth factor-I (IGF-1) measurement in the detection of isolated and combined growth hormone deficiency (GHD) during the transition period
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Boguszewski, Cesar L., primary, Lacerda, Claudio Silva de, additional, Lacerda Filho, Luiz de, additional, Carvalho, Julienne A. R. de, additional, and Boguszewski, Margaret C. S., additional
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- 2013
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29. Ponto de corte para o índice de massa corporal em adolescentes: comparação com padrões de referência nacionais e internacional
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Mascarenhas, Luis P. G., primary, Smolarek, André De C., additional, Bozza, Rodrigo, additional, Boguszewski, Margaret C. S., additional, Prati, Francisca Sonia, additional, Stabelini Neto, Antonio, additional, Campos, Wagner De, additional, Modesto, Marilza J., additional, Amer, Nadia Mohamad, additional, Krinski, Kleverton, additional, and Elsangedy, Hassan Mohamed, additional
- Published
- 2011
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30. Physical activity in children with type 1 diabetes
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Miculis, Cristiane P., primary, Mascarenhas, Luis P., additional, Boguszewski, Margaret C. S., additional, and Campos, Wagner de, additional
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- 2010
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31. Atividade física na criança com diabetes tipo 1
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Miculis, Cristiane P., primary, Mascarenhas, Luis P., additional, Boguszewski, Margaret C. S., additional, and Campos, Wagner de, additional
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- 2010
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32. Crianças nascidas pequenas para a idade gestacional: necessidade de acompanhamento médico durante todo o período de crescimento
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Boguszewski, Margaret C. S., primary
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- 2010
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33. Tratamento com hormônio de crescimento em crianças com baixa estatura nascidas pequenas para a idade gestacional
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Boguszewski, Margaret C. S., primary and Boguszewski, César Luiz, additional
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- 2008
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34. Tratamento com hormônio de crescimento em crianças com doenças crônicas
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Barreto, Alexandre M., primary, Bigolin, Michele C., additional, Ramos, Juliana C. R. Rojas, additional, Machado, Lucianna P. R. R., additional, Silva, Letícia dos Reis, additional, Silveira, Rodrigo B. da, additional, and Boguszewski, Margaret C. S., additional
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- 2008
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35. Polymorphisms Identified in the Upstream Core Polyadenylation Signal ofIGF1Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment
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Coutinho, Debora C., primary, Coletta, Rocio R. D., additional, Costa, Elaine M. F., additional, Pachi, Paulo R., additional, Boguszewski, Margaret C. S., additional, Damiani, Durval, additional, Mendonca, Berenice B., additional, Arnhold, Ivo J. P., additional, and Jorge, Alexander A. L., additional
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- 2007
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36. Whole Exome Sequencing of Extreme Morbid Obesity Patients: Translational Implications for Obesity and Related Disorders.
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Paz-Filho, Gilberto, Boguszewski, Margaret C. S., Mastronardi, Claudio A., Patel, Hardip R., Johar, Angad S., Chuah, Aaron, Huttley, Gavin A., Boguszewski, Cesar L., Ma-Li Wong, Arcos-Burgos, Mauricio, and Licinio, Julio
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NUCLEOTIDE sequence , *OBESITY genetics , *ADOLESCENT obesity , *GENETIC mutation , *CELLULAR signal transduction , *LIPID metabolism - Abstract
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male teenager and one female child with severe early-onset obesity. Additionally, the teenager patient had hypopituitarism and hyperprolactinaemia. A comprehensive bioinformatics analysis found de novo and compound heterozygote sequence variants with a damaging effect on genes previously associated with obesity in mice (LRP2) and humans (UCP2), among other intriguing mutations affecting ciliary function (DNAAF1). A gene ontology and pathway analysis of genes harbouring mutations resulted in the significant identification of overrepresented pathways related to ATP/ITP (adenosine/inosine triphosphate) metabolism and, in general, to the regulation of lipid metabolism. We discuss the clinical and physiological consequences of these mutations and the importance of these findings for either the clinical assessment or eventual treatment of morbid obesity. [ABSTRACT FROM AUTHOR]
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- 2014
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37. In vitroandin vivoresponses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene
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De Lacerda, Luiz, primary, Carvalho, Julienne A. R., additional, Stannard, Bethel, additional, Werner, Haim, additional, Boguszewski, Margaret C. S., additional, Sandrini, Romolo, additional, Malozowski, Saul N., additional, LeRoith, Derek, additional, and Underwood, Louis E., additional
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- 1999
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38. Increased Proportion of Circulating Non-22-Kilodalton Growth Hormone Isoforms in Short Children: A Possible Mechanism for Growth Failure1
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Boguszewski, Cesar L., primary, Jansson, Chatarina, additional, Boguszewski, Margaret C. S., additional, Rosberg, Sten, additional, Carlsson, Björn, additional, Albertsson-Wikland, Kerstin, additional, and Carlsson, Lena M. S., additional
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- 1997
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39. Consenso Latinoamericano: niños pequeños para la edad gestacional.
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BOGUSZEWSKI, MARGARET C. S., MERICQ, VERÓNICA, BERGADA, IGNACIO, DAMIANI, DURVA L., BELGOROSKY, ALICIA, GUNCZLER, PETER, ORTI Z., TERESA, LLANO, MAURICIO, DOMENÉ, HORACIO M., CALZADA-LEÓN, RAÚL, BLANCO, ARMANDO, BARRIENTOS, MARGARITA, PROCEL, PATRICIO, LANES, ROBERTO, and JARAMILLO, ORLANDO
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- 2012
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40. Insulin-Like Growth Factor-1, Leptin, Body Composition, and Clinical Status Interactions in Children with Cystic Fibrosis.
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Boguszewski, Margaret C. S., Tsukiyo Obu Kamoi, Rosana Bento Radominski, Cesar Luiz Boguszewski, Rosberg, Sten, Filho, Nelson Augusto Rosário, Neto, Romolo Sandrini, and Albertsson-Wikland, Kerstin
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CYSTIC fibrosis in children , *INSULIN , *GROWTH factors , *LEPTIN , *HUMAN body composition , *BODY weight , *SERUM - Abstract
Background/Aims: Children with cystic fibrosis (CF) are of increased risk of reduced fat body mass (FBM) and lean body mass (LBM). Serum concentrations of insulin-like growth factor-1 (IGF-1)and leptin could be markers of LBM and/or FBM depletion. To evaluate the relationships between disease activity, body composition, IGF-1and leptin concentrations in CF children. Methods: A cross-sectional study with 26 CF children aged 5.0–15.5 years and 33 healthy controls, mean age 9.4 years. Body composition was evaluated by dual-energy X-ray absorptiometry. Fasting blood samples were analyzed for leptin, IGF-1and IGFBP-3. Results: FBM standard deviation score (SDS; CF boys –0.02 ± 0.88 vs. 0.78 ± 0.65, p < 0.01; CF girls –0.37 ± 1.15 vs. 0.70 ± 0.97, p < 0.05), leptin concentration (CF boys 2.07 ± 0.79 vs. 3.07 ± 1.28 ng/ml, p < 0.05; CF girls 2.71 ± 0.86 vs. 5.00 ± 2.95 ng/ml, p < 0.05) and IGF-1SDS (CF boys –1.43 ± 1.50 vs. –0.32 ± 0.88, p < 0.05; CF girls –0.66 ± 1.66 vs. 0.64 ± 0.57, p < 0.01) were lower in CF children compared to controls. Shwachman score was the strongest predictor of lean body mass (R = 0.63). Leptin levels explain 60% of the variability in FBM. Conclusion: Serum concentrations of IGF-1 and leptin are decreased in children with CF and are associated with clinical conditions and body composition. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
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- 2007
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41. Low birth size and final height predict high sympathetic nerve activity in adulthood.
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Boguszewski MCS, Johannsson G, Fortes LC, Sverrisdóttir YB, Boguszewski, Margaret C S, Johannsson, Gudmundur, Fortes, Lethusa C, and Sverrisdóttir, Yrsa Bergmann
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- 2004
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42. In vitro andin vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.
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de Lacerda, Luiz, Carvalho, Julienne A. R., Stannard, Bethel, Werner, Haim, Boguszewski, Margaret C. S., Sandrini, Romolo, Malozowski, Saul N., LeRoith, Derek, and Underwood, Louis E.
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SOMATOMEDIN ,RECOMBINANT human insulin ,CHILDREN with intellectual disabilities - Abstract
OBJECTIVES Patients with single allele defects in the gene encoding the type 1 IGF receptor have been reported to have growth failure, but fibroblasts from affected patients have not exhibited insensitivity to the effects of IGF-I in vitro. The in vitro and in vivo responses to short-term recombinant human IGF-I (rhIGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene have been investigated. DESIGN AND PATIENT The child exhibited prenatal and severe post-natal growth failure, and delayed psychomotor development. Southern blotting revealed a 50% reduction in IGF-I receptor DNA, and in an RNase protection assay (RPA), a quantitatively similar reduction in steady-state mRNA for type 1 IGF receptor. rhIGF-I was administered in graded doses of 40, 60 and 80 μg/kg twice daily by subcutaneous injection for periods of 2–2.5 days each. RESULTS During rhIGF-I treatment, mean urinary nitrogen excretion was unchanged and urinary calcium rose to 60% greater than in the pre-treatment period. rhIGF-I injections produced only a modest decrease in indices of GH secretion, assessed by frequent (every 20 min) sampling over periods of 12 h. There was no significant difference between the mean GH concentrations during rhIGF-I treatment (5.32 ± 6.2 mU/l) compared with that before rhIGF-I treatment (8.46 ± 10.2 mU/l). Mean IGFBP-3-values were increased (4.5 mg/l before vs. 5.4 mg/l during rhIGF-I). TSH values after injection of TRH were not significantly reduced by IGF-I (mean of all values, 18.6 mU/l vs. 15.5 mU/l during rhIGF-I treatment). In vitro binding of radiolabelled IGF-I to the patient's fibroblasts was less than that bound by control fibroblasts (patient, 0.69% binding by 248 000 cells, vs. 1.41% binding by 260 000 fibroblasts from an age-matched control). However, the patient's fibroblasts exhibited a growth response in vitro to the addition of IGF-I in a fashion similar to... [ABSTRACT FROM AUTHOR]
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- 1999
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43. Circulating non-22 kDa growth hormone isoforms in healthy children of normal stature: relation to height, body mass and pubertal development.
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Boguszewski, Cesar L., Jansson, Chatarina, Boguszewski, Margaret C. S., Rosberg, Sten, Wikland, Kerstin Albertsson, Carlsson, Björn, and Carlsson, Lena M. S.
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- 1997
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44. Complicações tardias após transplante de células-tronco hematopoéticas em pacientes pediátricos com leucemia aguda
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Marinho, Daniela Hespanha, 1977, Boguszewski, Margaret C. S. (Margaret Cristina da Silva), 1964, Universidade Federal do Paraná. Setor de Ciências da Saúde. Programa de Pós-Graduação em Saúde da Criança e do Adolescente, and Bonfim, Carmem Maria Sales
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Pediatria ,Leucemia ,Transplante de células-tronco hematopoéticas - Abstract
Orientadora: Profª. Dra. Carmem Maria Sales Bonfim Coorientadora: Profª Dra Margaret Cristina da Silva Boguszewski Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Defesa : Curitiba, 29/11/2019 Inclui referências: p. 123-141 Área de concentração: Hemato-Oncologia e Genética Pediátrica Resumo: O número de sobreviventes ao longo prazo do transplante de células-tronco hematopoéticas (TCTH) aumentou rapidamente nos últimos anos, e com isso a atenção expandiu-se para as complicações tardias e qualidade de vida após este procedimento. O objetivo deste estudo foi analisar as complicações tardias, recaída, sobrevida, causas de morte e qualidade de vida de crianças que sobreviveram pelo menos dois anos depois do TCTH. Foram analisados 101 pacientes menores de 18 anos de idade com leucemia aguda do Complexo Hospital de Clínicas - Universidade Federal do Paraná, que sobreviveram pelo menos dois anos depois do TCTH entre 1981 e 2015. Prontuários médicos e consulta atual foram utilizados para detectar a ocorrência de efeitos físicos tardios. Para avaliar a qualidade de vida utilizaram-se questionários conforme a idade atual do paciente. A mediana da idade no TCTH foi de 10,8 anos (1,4 - 17,9) e a mediana de acompanhamento foi de 5,9 anos (2,0 - 29,0). A incidência cumulativa de recaída aos cinco anos de transplante foi 27,5% (IC 95%, 18,6% a 36,4%). A incidência cumulativa de doença do enxerto contra o hospedeiro (DECH) crônica aos dois anos foi 21,8% (IC 95%, 13,7% a 29,8%). A sobrevida global aos cinco anos foi de 68,9% (IC 95%, 57,7% a 77,7%). Pacientes com alto risco para recaída na época do transplante e aqueles que recaíram após o transplante foram associados com risco aumentado para mortalidade. Das 30 mortes, recaída foi a principal causa. Dos 101 pacientes, 72 (71,3%) apresentaram efeitos tardios e aqueles que transplantaram há mais tempo apresentaram mais complicações. Pacientes que receberam regimes baseados em irradiação corporal total desenvolveram mais efeitos tardios (p = 0,01) e mais complicações endocrinológicas (p = 0,02). As complicações endócrinas foram as sequelas tardias mais comuns encontradas neste estudo. Para sobreviventes crianças, idade ao TCTH, idade na última visita, tempo do TCTH até a última visita, sexo, doador e DECH não influenciaram na qualidade de vida. Para sobreviventes adultos, idade a idade na última visita influenciou no impacto financeiro; sexo, doador e DECH não influenciaram na qualidade de vida. O presente estudo confirma a alta taxa de complicações tardias depois de TCTH pediátrico e reforça a importância de seguimentos ao longo prazo. Palavras-chaves: Transplante de células-tronco hematopoéticas. Complicações. Leucemia aguda. Criança. Qualidade de vida. Abstract: The number of long-term surviving hematopoietic stem cell transplantation (HSCT) recipients has increased steadily, and attention has now extended to the late complications and quality of life after this procedure. The objective of this study was to report late complications, relapsed, overall survival, causes of death and quality of life of children who survived at least two years after HSCT. We analysed outcomes of 101 patients younger than 18 years of age from Complexo Hospital de Clinicas - Universidade Federal do Paraná who survived at least two years after HSCT for acute leukemia between 1981 and 2015. Medical records and visits were were used to detect the occurrence of physical late effects. Based on patient age, different questionnaries were used to assess quality of life. The median follow-up was 5.9 years (2.0 - 29.0); median age at follow-up was 17.5 years (2.98 - 39.0). Five-year cumulative incidence of relapse was 27.5% (95% CI, 18.6% to 36.4%). Two-year cumulative incidence of chronic graft-versus-host disease (GVHD) was 21.8% (95% CI, 13.7% to 29.8%). Five-year overall survival was 68.9% (95% CI, 57.7% to 77.7%). Patients at high risk of relapse at the time of HSCT and those relapsed after transplantation were associated with increased risk of mortality. Of 30 deaths, relapse was the leading cause (80%). Of the 101 patients, 72 patients (71.3%) presented late effects and who transplanted more time ago had more complications Patients who received TBI-based regimen developed more late effects (p = 0.01) and more endocrinological complications (p = 0.02). The adverse endocrine complications were the most common late sequelae found in this study. For child survivors, age at HSCT, age at last visit, time from HSCT to last visit, gender, donor and GVHD did not influence to quality of life. For adult survivors, age at last visit influenced to financial impact; gender, donor and GVHD did not influence to quality of life. The current study confirms the high burden of late complications after pediatric HSCT and underlines the importance of extended follow-up. Keywords: Hematopoietic stem cell transplantation. Complications. Acute leukemia. Children. Quality of life.
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- 2019
45. Meios de comunicação e redes sociais como recursos na melhoria do conhecimento do Diabetes mellitus tipo 1 em comunidades carentes
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Prati, Francisca Sonia de Melo, Universidade Federal do Paraná. Setor de Ciências da Saúde. Programa de Pós-Graduação em Saúde da Criança e do Adolescente, and Boguszewski, Margaret C. S. (Margaret Cristina da Silva), 1964
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Pediatria ,Teses - Abstract
Orientadora: Profª. Drª. Margaret Cristina da Silva Boguszewski Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Defesa: Curitiba, 19/12/2017 Inclui referências : f.111-119 Resumo: Introdução: Os Meios de Comunicação Social (MCS) estão sendo cada vez mais utilizados no âmbito da saúde. Sites, blogs e perfis em redes sociais que abordam temas de saúde são criados diariamente, tanto por profissionais de saúde como por pacientes ou indivíduos interessados, abordando doenças, conselhos de tratamento e até possíveis curas. O Diabetes Mellitus Tipo 1 (DM1), embora em extensão menor que o Diabetes Mellitus Tipo 2, vem ganhando destaque nos MCS, especialmente nas redes sociais. Entidades, pesquisadores e até instituições de apoio aos pacientes portadores do DM1 apresentam, em diversos espaços da Internet, sua forma própria de lidar com a doença. Justificativa: Em um cenário onde são utilizadas cada vez mais as Mídias Sociais para interagir entre si, e onde um número crescente de organizações busca se aproximar de seu público-alvo usando tais ferramentas, é fundamental que a pesquisa científica também esclareça o significado deste processo, a fim de que possa desenvolver estratégias de comunicação mais eficientes e seguras, aproximação e fortalecimento dos laços com os indivíduos ou grupos envolvidos. Objetivos: Oferecer informações e um ambiente de discussão por meio de visitas às comunidades e do uso de ferramentas da Internet para aumentar o conhecimento sobre o DM1, incentivar o compromisso com o tratamento e apoiar a melhoria da qualidade de vida de crianças, adolescentes e adultos com a doença e suas famílias. Material e Métodos: Estudo de caráter populacional. População: moradores da Região Metropolitana de Curitiba (RMC), portadores de DM1 e internautas de modo geral. Delineamento: O projeto somou três ações: trabalho presencial nas comunidades carentes; trabalho remoto, pela Internet; e a capacitação de multiplicadores voluntários. A intervenção se deu com a participação do pesquisador em grupos comunitários, postagens em Redes Sociais, elaboração de um site, contatos via Facebook e whatsapp, com ênfase nos elementos necessários para um maior conhecimento do DM1 e para reforçar a importância do tratamento e acompanhamento com profissionais de saúde. Foram utilizadas técnicas de comunicação, apoiadas em práticas de boa saúde. Para as dúvidas e questões pontuais, foram realizadas duas enquetes populares. Além disso, o pesquisador abriu um canal de diálogo com portadores da doença e familiares, através das Redes Sociais, denominado "DiabeteStation". Resultados: No total, 537 moradores da RMC participaram de reuniões no período de julho de 2015 a dezembro de 2016. Duas enquetes populares foram realizadas. Na primeira, sobre alimentação saudável e atividade física, participaram 198 indivíduos. Na segunda, sobre DM1 e MCS, participaram 256 indivíduos, sendo 78 portadores de DM1. As enquetes foram realizadas de forma presencial e via eletrônica. 254 indivíduos afirmaram que o projeto ajudou a aumentar o conhecimento sobre o DM1. 75 portadores de DM1 afirmaram ter adquirido um maior senso crítico em relação aos MCS e 63 disseram que o projeto ajudou na perseverança ao tratamento. Conclusão: Com medidas simples e utilização de ferramentas de comunicação, foi possível aumentar o conhecimento sobre o DM1; enfatizar a importância do tratamento; ampliar o canal de discussão; e estabelecer novos laços de apoio entre comunidades, famílias e pacientes. Palavras-chave: Diabetes Tipo 1. Comunicação e Saúde. Educação Comunitária em Saúde. Abstract: Introduction: The Means Social Comunication Media (MCS) is being progressively used in health. Websites, blogs and profiles on social networks that address health issues are created daily by health professionals such as patients or interested individuals, lifting up about raising t diseases, treatment advice and even possible cures. Type 1 Diabetes Mellitus (DM1), although to a lesser extent than Type 2 Diabetes Mellitus, has been prominent in MCS, especially in social networks. Entities, researchers and institutions that support patients with DM1 have their own way of dealing with the disease in various areas of the Internet. Justification: In a context where social media are increasingly used for interaction and where more and more organizations approach their target audience using these tools, it is crucial that scientific research also clarifies the meaning of this process, with the purpose of developing more efficient and secure communication strategies, approaching and strengthening the ties with the individuals or groups involved. Objectives: To provide information by creating a discussion environment through visits to communities and the use of Internet tools to increase knowledge about DM1, encourage commitment to treatment and support the improvement of the quality of life of children, adolescents and adults with disease and their families. Material and Methods: Population study. Population: Residents of the Metropolitan Region of Curitiba (MRC), DM1 and Internet users in general. Planning: The project added three actions: presential work in poor communities; remote work over the Internet; and the training of volunteer multipliers. The intervention took place with the participation of the researcher in community groups, postings in Social Networks, elaboration of a website, contacts via Facebooke, whatsapp, with emphasis on the elements necessary for a greater knowledge of DM1 and to reinforce the importance of treatment and follow-up with professionals of health. Communication techniques were used, based on good health practices. For doubts and specific questions, two popular questions were asked. In addition, the researcher opened a channel of dialogue with disease carriers and family members, through Social Networks, called "DiabeteStation". Results: In total, 537 residents of the MRC participated in meetings from July 2015 to December 2016. Two popular questions were asked. In the first one, about healthy eating and physical activity, 198 individuals participated. In the second one, about DM1 and MCS, 256 individuals participated, being 78 DM1 carriers. The questionings were carried out in person and electronically. 254 individuals stated that the project helped increase awareness about DM1. 75 patients with DM1 reported having acquired a greater critical sense regarding MCS and 63 said that the project helped in perseverance to treatment. Conclusion: With simple measures and use of communication tools, it was possible to increase knowledge about DM1; emphasize the importance of treatment; broadening the means of discussion; and establish new support ties between communities, families and patients. Keywords: Type 1 Diabetes. Communication and Health. Community Health Education.
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- 2017
46. Prevalencia de doença celíaca em 149 crianças e adolescentes com diabetes mellitus tipo 1
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Gallego, Patrícia Herold, Sandrini Neto, Romolo, Boguszewski, Margaret C. S. (Margaret Cristina da Silva), 1964, and Universidade Federal do Paraná. Setor de Ciências da Saúde
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Crianças ,Diabetes ,Teses ,Doença Celíaca - Abstract
Orientador : Romolo Sandrini Neto Co-orientador : Margaret C. S. Boguszewski Dissertaçao (mestrado) - Universidade Federal do Paraná, Setor de Ciencias da Saúde Resumo: Pacientes com diabetes mellitus tipo 1 (DM 1) apresentam maior risco de desenvolver doenca celiaca (DC) caracterizada por lesao atrofica na mucosa do intestino delgado e subsequente diminuicao na absorcao intestinal em pacientes sensiveis a glicidina. Como as manifestacoes clinicas nem sempre estao presentes, testes sorologicos tem sido utilizados como screening para detectar possiveis casos de DC, uma vez que a analise histologica da mucosa intestinal e necessaria para se estabelecer o diagnostico. Cento e quarenta e nove criancas e adolescentes com DM 1 (77 meninos e 72 meninas, com idade variando de 1,7-22,5 anos) em atendimento regular na Unidade de Endocrinologia Pediatrica do Hospital de Clinicas da UFPR foram triados por meio do anticorpo antiendomisio IgA (EMA). Os pacientes EMA (+) foram convocados a biopsia intestinal e analise histologica. Um total de 114 pacientes foi EMA (-) (76,5%) e 35 individuos foram EMA (+) (23,5%). Entre os pacientes EMA (+), 5 recusaram a biopsia. Dos 30 pacientes que realizaram a biopsia jejunal, 6 (4%) tiveram histologia normal, 11 (7,4%) apresentaram algum grau de processo inflamatorio, mas nao os achados tipicos da histologia de DC, e 13 (8,7%) apresentaram analise histologica tipica com atrofia total de vilosidades (4 apresentavam queixas intestinais, 5 apresentavam sintomas pouco especificos e 1 tinha tireoidite de Hashimoto). Sete dos 13 pacientes eram completamente assintomaticos. Pacientes com EMA (+) tiveram menor tempo de aleitamento materno, introducao do gluten mais precoce e menores valores de ferritina serica quando comparados com o grupo EMA (-). Individuos com DC confirmada tiveram menor tempo de aleitamento materno, introducao do gluten mais precoce na dieta, atraso puberal, menores niveis de albumina e volume corpuscular medio, e uma tendencia a estarem abaixo da estatura-alvo quando comparados ao grupo EMA (-). Os dados deste estudo revelam uma alta prevalencia de DC nos pacientes com DM 1. Os pacientes com EMA (+) e biopsias normais devem ser acompanhados pois podem representar pacientes com DC potencial. Abstract: Patients with type I diabetes (DM 1) present higher risk o f developing celiac disease (CD), which is characterized by lesion o f the small bowel mucosa (SBM) and subsequent impaired absortion in patients sensitive to gliadin, the offending polypeptide in gluten. As the clinical manifestations are not always present, the serologic tests have been used as screening for detecting possible cases o f CD since the SBM histologic analysis is required to establish diagnosis. A group of 149 children and adolescents with DM 1 (77 boys and 72 girls, age range 1,7 - 22,5 yrs) attending at the Pediatric Endocrinology Unit of Hospital de Clinicas -UFPR were submited to a serologic test, the antiendomysium-IgA (EMA). The EMA (+) patients were selected to SBM biopsy and histologic analysis. A total of 114 patients were EMA (-) (76,5%) and 35 subjects were EMA (+) (23,5%). Among the EMA (+) patients, 5 refused the biopsy. From the 30 who had SBM biopsy, 6 (4%) had normal histology, 11 (7,4%) had some degree o f inflammatory process but not the gold standard histological alteration for CD and 13 (8,7%) had typical histology with total villous atrophy (4 had abdominal complaint, 5 had inespecific symptoms 1 had Hashimoto's disease). Seven patients were completely asymptomatic. Patients with EMA (+) had less breast-feeding time, earlier introduction o f gluten and less absolute ferritin values when compared to EMA (-) group. Subjects with confirmed CD had less breast feeding time, earlier introduction o f gluten, longer duration of diabetes, delay in puberty and lower levels o f albumin and median corpuscular volume and a tendency o f being below target height when compared to the EMA (-) group. Our data revealed a high prevalence o f CD among DM-I patients. The EMA (+) with normal biopsies suggest that these children maybe potential cases o f CD.
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- 2002
47. Growth hormone therapy in children; research and practice - A review.
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Collett-Solberg PF, Jorge AAL, Boguszewski MCS, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, and Saenger P
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- Humans, Biomedical Research, Growth Disorders drug therapy, Human Growth Hormone therapeutic use, Practice Guidelines as Topic standards, Practice Patterns, Physicians' standards
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Short stature remains the most common reason for referral to a pediatric Endocrinologist and its management remains a challenge. One of the main controversies is the diagnosis of idiopathic short stature and the role of new technologies for genetic investigation of children with inadequate growth. Complexities in management of children with short stature includes selection of who should receive interventions such as recombinant human growth hormone, and how should this agent dose be adjusted during treatment. Should anthropometrical data be the primary determinant or should biochemical and genetic data be used to improve growth response and safety? Furthermore, what is considered a suboptimal response to growth hormone therapy and how should this be managed? Treatment of children with short stature remains a "hot" topic and more data is needed in several areas. These issues are reviewed in this paper., (Copyright © 2018 Elsevier Ltd. All rights reserved.)
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- 2019
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48. Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
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Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, and Woelfle J
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- Child, Humans, Growth Disorders diagnosis, Growth Disorders genetics, Growth Disorders pathology, Growth Disorders therapy, Human Growth Hormone deficiency, Human Growth Hormone therapeutic use
- Abstract
The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency., (© 2019 The Author(s)Published by S. Karger AG, Basel.)
- Published
- 2019
- Full Text
- View/download PDF
49. Novel SUZ12 mutations in Weaver-like syndrome.
- Author
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Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, and Matsumoto N
- Subjects
- Alleles, Amino Acid Substitution, Facies, Female, Genotype, Humans, Male, Neoplasm Proteins, Pedigree, Transcription Factors, Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Congenital Hypothyroidism diagnosis, Congenital Hypothyroidism genetics, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities genetics, Genetic Association Studies, Genetic Predisposition to Disease, Hand Deformities, Congenital diagnosis, Hand Deformities, Congenital genetics, Mutation, Phenotype, Polycomb Repressive Complex 2 genetics
- Abstract
SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS. However, only one case of a SUZ12 mutation presenting with Weaver-like syndrome has been reported. Here, we report a missense and a frameshift mutation in SUZ12 (c.1797A>C; p.Gln599His and c.844_845del; p.Ala282Glnfs*7), both of which are novel, in two individuals. Their clinical features included postnatal overgrowth, increased bifrontal diameter, large ears, round face, horizontal chin crease and skeletal anomalies, but did not fulfill the WS diagnostic criteria. These data provide strong evidence that SUZ12 mutations cause Weaver-like syndrome., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2018
- Full Text
- View/download PDF
50. Biomarkers of GH action in children and adults.
- Author
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Schilbach K, Olsson DS, Boguszewski MCS, Bidlingmaier M, Johannsson G, and Jørgensen JL
- Subjects
- Adult, Child, Hormone Replacement Therapy, Humans, Biomarkers analysis, Growth Disorders drug therapy, Human Growth Hormone therapeutic use, Outcome Assessment, Health Care methods
- Abstract
Growth hormone (GH) and IGF-I levels in serum are used as biomarkers in the diagnosis and management of GH-related disorders but have not been subject to structured validation. Auxological parameters in children and changes in body composition in adults, as well as metabolic parameters and patient related outcomes are used as clinical and surrogate endpoints. New treatment options, such as long acting GH and GH antagonists, require reevaluation of the currently used biochemical biomarkers. This article will review biomarkers, surrogate endpoints and clinical endpoints related to GH treatment in children and adults as well as in acromegaly., (Copyright © 2018 Elsevier Ltd. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
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