المؤلفون: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Inês, Baratela, Wagner A R, Betts, James, Bober, Michael B, Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M, Carl-Innig, Patricia, Cheung, Moira S, Cobourne, Martyn, Cormier-Daire, Valérie, Deladure-Molla, Muriel, Del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L, Hagenäs, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert R, Offiah, Amaka, Ozono, Keiichi, Phillips, John A, Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto

مصطلحات موضوعية: Achondroplasia, Consensus, Humans, Mutation, Osteogenesis, Quality of Life, Receptor, Fibroblast Growth Factor, Type 3

الوصف: Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.

العلاقة: http://hdl.handle.net/10668/19565Test; https://www.nature.com/articles/s41574-021-00595-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41574-021-00595-xTest
http://hdl.handle.net/10668/19565Test
https://www.nature.com/articles/s41574-021-00595-x.pdfTest

المؤلفون: de Vries, Olga, Johansen, Heidi, Fredwall, Svein Otto

المصدر: 1552-4825.

الوصف: This cross‐sectional Physical Fitness Study compared cardiorespiratory fitness (VO2 peak), six‐minute walk test (6MWT), muscle strength (30sSTS), balance (BESS), and self‐reported physical activity level (IPAQ) in Norwegian adults with achondroplasia (ACH) to reference values of average‐statured individuals. The feasibility of the physical fitness tests and IPAQ was explored. Forty‐three adults (22 women) participated. Mean age was 38 years (range 16–69 years). Mean differences (95% CI) for men and women with ACH compared to reference values were: VO2 peak. −7.0 m/min/kg (−13.6 to −0.5, p = .037), and − 7.9 ml/kg/min (−11.6 to −4.3, p < .001); 6MWT −270.8 m (−340.4 to −201.2, p < .001), and − 196.7 m (−244.3 to −149.0, p = .001); 30sSTS ‐4.6 repetitions (−7.8 to −1.5, p = .006), and − 1.1 repetitions (−3.4 to 1.1, p = .335). There were no differences within ACH participants, except for VO2 peak, where men performed better. Sufficient physical activity (> 600 metabolic equivalent of task weekly) was achieved by 79% of the participants. The feasibility of the 6MWT and 30sSTS was good. There was a strong correlation between the VO2 peak and 6MWT (men: r = 0.63, p = .007; women: r = 0.71, p < .001). The findings indicate that the 6MWT and 30sSTS test are useful in assessing functional exercise capacity and muscle strength in adults with ACH.

العلاقة: http://urn.nb.no/URN:NBN:no-88225Test; de Vries, Olga Johansen, Heidi Fredwall, Svein Otto . Physical fitness and activity level in Norwegian adults with achondroplasia. American Journal of Medical Genetics. Part A. 2020, 1-10; http://hdl.handle.net/10852/85583Test; 1892160; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American Journal of Medical Genetics. Part A&rft.volume=&rft.spage=1&rft.date=2020; American Journal of Medical Genetics. Part A; 185; 1023; 1032; https://doi.org/10.1002/ajmg.a.62055Test; URN:NBN:no-88225; Fulltext https://www.duo.uio.no/bitstream/handle/10852/85583/2/Physical%2Bfitness%2Band%2Bactivity%2Blevel%2Bin%2BNorwegian%2Badults.pdfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.62055Test
http://hdl.handle.net/10852/85583Test
http://urn.nb.no/URN:NBN:no-88225Test

المؤلفون: Fredwall, Svein Otto, Månum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg Beate

المصدر: 0009-9163.

الوصف: This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA‐ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta‐Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty‐nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep‐related disorders and pregnancy‐related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice.

العلاقة: http://urn.nb.no/URN:NBN:no-78279Test; Fredwall, Svein Otto Månum, Grethe Johansen, Heidi Snekkevik, Hildegun Savarirayan, Ravi Lidal, Ingeborg Beate . Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics. 2019, 97, 179-197; http://hdl.handle.net/10852/75193Test; 1705967; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical Genetics&rft.volume=97&rft.spage=179&rft.date=2019; Clinical Genetics; 97; 179; 197; https://doi.org/10.1111/cge.13542Test; URN:NBN:no-78279; Fulltext https://www.duo.uio.no/bitstream/handle/10852/75193/2/Current%2Bknowledge%2Bof%2Bmedical%2Bcomplications%2Bin%2Badults%2Bwith%2Bachondroplasia_%2Ba%2Bscoping%2Breview.pdfTest

الإتاحة: https://doi.org/10.1111/cge.13542Test
http://hdl.handle.net/10852/75193Test
http://urn.nb.no/URN:NBN:no-78279Test

المؤلفون: Madsen, Andrea, Fredwall, Svein Otto, Månum, Grethe, Henriksen, Christine, Slettahjell, Hanne Bjørg

المصدر: 1552-4825.

الوصف: Individuals with achondroplasia have a high prevalence of obesity and increased risk of cardiovascular disease. Fat distribution, diet, and caloric intake are known risk factors, but the literature concerning diet and energy balance in achondroplasia is limited. The main aim of this study was to describe the anthropometrics, diet, and resting energy expenditure (REE) in a Norwegian adult achondroplasia population. Here, we present a descriptive cross‐sectional study with the following variables: anthropometrics, the SmartDiet questionnaire, and dietary records. In addition, REE was measured and estimated using indirect calorimetry and prediction equations. A total of 33 adults with achondroplasia participated with a mean age of 40 years. Mean body mass index was 34.1 kg/m2, and mean waist circumference was 94.1 cm for men and 82.2 cm for women. Their diets were classified as unhealthy (38%) or in need of improvement (62%). The mean REE values for the total group were 21 kcal/kg for the male (n = 15) and 20 kcal/kg for the female (n = 18). This study revealed a high frequency of central obesity and unhealthy dietary habits in Norwegian adults with achondroplasia. Mean energy intake was low and only 10% higher than the mean REE, and does not explain the high prevalence of abdominal obesity in our population.

العلاقة: http://urn.nb.no/URN:NBN:no-78177Test; Madsen, Andrea Fredwall, Svein Otto Månum, Grethe Henriksen, Christine Slettahjell, Hanne Bjørg . Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia. American Journal of Medical Genetics. Part A. 2019, 179(9), 1745-1755; http://hdl.handle.net/10852/75059Test; 1729192; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American Journal of Medical Genetics. Part A&rft.volume=179&rft.spage=1745&rft.date=2019; American Journal of Medical Genetics. Part A; 179; 1745; 1755; https://doi.org/10.1002/ajmg.a.61272Test; URN:NBN:no-78177; Fulltext https://www.duo.uio.no/bitstream/handle/10852/75059/1/Madsen_et_al-2019-American_Journal_of_Medical_Genetics_Part_A.pdfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.61272Test
http://hdl.handle.net/10852/75059Test
http://urn.nb.no/URN:NBN:no-78177Test

المؤلفون: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Ines, Baratela, Wagner A.R., Betts, James, Bober, Michael B., Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M., Carl-Innig, Patricia, Cheung, Moira S., Cobourne, Martyn, Cormier-Daire, Valerie, Deladure-Molla, Muriel, del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L., Hagenas, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert, Offiah, Amaka, Ozono, Keiichi, Phillips, John A., Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto

المصدر: 1759-5029 ; Nature reviews : endocrinology

مصطلحات موضوعية: Human medicine

الوصف: Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life. Achondroplasia is the most common skeletal dysplasia and is characterized by various lifelong clinical, functional and psychosocial challenges for affected individuals. This first International Consensus Statement on the care of children and adults with achondroplasia aims to facilitate the global standardization and improvement of achondroplasia clinical care.

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000722813000001

الإتاحة: https://doi.org/10.1038/S41574-021-00595-XTest
https://hdl.handle.net/10067/1849010151162165141Test

المؤلفون: Fredwall, Svein Otto

العلاقة: Paper I. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical genetics. 2020;97(1):179-97. DOI: 10.1111/cge.13542. The article is included in the thesis. Also available at: https://doi.org/10.1111/cge.13542Test

الإتاحة: http://hdl.handle.net/10852/92900Test
https://www.duo.uio.no/bitstream/handle/10852/92900/1/PhDTest-Fredwall-2022.pdf

المؤلفون: Fredwall, Svein Otto, Månum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg Beate

المصدر: Fredwall, Svein Otto Månum, Grethe Johansen, Heidi Snekkevik, Hildegun Savarirayan, Ravi Lidal, Ingeborg Beate . Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics. 2019, 97, 179-197
Clinical Genetics

الإتاحة: http://hdl.handle.net/10852/75193Test
https://www.duo.uio.no/bitstream/handle/10852/75193/2/Current%2Bknowledge%2Bof%2Bmedical%2Bcomplications%2Bin%2Badults%2Bwith%2Bachondroplasia_%2Ba%2Bscoping%2Breview.pdfTest

المؤلفون: Marieke de Vries, Olga, Johansen, Heidi, Fredwall, Svein Otto

المصدر: American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1023-1032, 10p

مستخلص: This cross‐sectional Physical Fitness Study compared cardiorespiratory fitness (VO2 peak), six‐minute walk test (6MWT), muscle strength (30sSTS), balance (BESS), and self‐reported physical activity level (IPAQ) in Norwegian adults with achondroplasia (ACH) to reference values of average‐statured individuals. The feasibility of the physical fitness tests and IPAQ was explored. Forty‐three adults (22 women) participated. Mean age was 38 years (range 16–69 years). Mean differences (95% CI) for men and women with ACH compared to reference values were: VO2 peak. −7.0 m/min/kg (−13.6 to −0.5, p = .037), and − 7.9 ml/kg/min (−11.6 to −4.3, p < .001); 6MWT −270.8 m (−340.4 to −201.2, p < .001), and − 196.7 m (−244.3 to −149.0, p = .001); 30sSTS ‐4.6 repetitions (−7.8 to −1.5, p = .006), and − 1.1 repetitions (−3.4 to 1.1, p = .335). There were no differences within ACH participants, except for VO2 peak, where men performed better. Sufficient physical activity (> 600 metabolic equivalent of task weekly) was achieved by 79% of the participants. The feasibility of the 6MWT and 30sSTS was good. There was a strong correlation between the VO2 peak and 6MWT (men: r = 0.63, p = .007; women: r = 0.71, p < .001). The findings indicate that the 6MWT and 30sSTS test are useful in assessing functional exercise capacity and muscle strength in adults with ACH. [ABSTRACT FROM AUTHOR]

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