Search

Your search keyword '"Monk, A.B. (Alastair)"' showing total 3 results
Start Over Author "Monk, A.B. (Alastair)"
3 results on '"Monk, A.B. (Alastair)"'

1. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Author

Mantovani, G. (Giovanna), Bastepe, M. (Murat), Monk, A.B. (Alastair), de Sanctis, L. (Luisa), Thiele, S. (Susanne), Usardi, A. (Alessia), Ahmed, S.F. (Sayed), Bufo, R. (Roberto), Choplin, T. (Timothée), de Filippo, G. (Gianpaolo), Devernois, G. (Guillemette), Eggermann, T. (Thomas), Elli, F.M. (Francesca M.), Freson, K. (Kathleen), García Ramirez, A. (Aurora), Germain-Lee, E.L. (Emily L.), Groussin, L. (Lionel), Hamdy, N.A. (Neveen), Hanna, P. (Patrick), Hiort, O. (Olaf), Jüppner, H. (Harald), Kamenický, P. (Peter), Knight, N. (Nina), Kottler, M.-L. (Marie-Laure), Le Norcy, E. (Elvire), Lecumberri, B. (Beatriz), Levine, M.A. (Michael A.), Mäkitie, O. (Outi), Martin, R. (Regina), Martos-Moreno, G.Á. (Gabriel Ángel), Minagawa, M. (Masanori), Murray, P. (Philip), Pereda, A. (Arrate), Pignolo, R. (Robert), Rejnmark, L. (Lars), Rodado, R. (Rebecca), Rothenbuhler, A. (Anya), Saraff, V. (Vrinda), Shoemaker, A.H. (Ashley H.), Shore, E.M. (Eileen M.), Silve, C. (Caroline), Turan, S. (Serap), Woods, P. (Philip), Zillikens, M.C. (Carola), Perez de Nanclares, G. (Guiomar), Linglart, A. (Agnès), Mantovani, G. (Giovanna), Bastepe, M. (Murat), Monk, A.B. (Alastair), de Sanctis, L. (Luisa), Thiele, S. (Susanne), Usardi, A. (Alessia), Ahmed, S.F. (Sayed), Bufo, R. (Roberto), Choplin, T. (Timothée), de Filippo, G. (Gianpaolo), Devernois, G. (Guillemette), Eggermann, T. (Thomas), Elli, F.M. (Francesca M.), Freson, K. (Kathleen), García Ramirez, A. (Aurora), Germain-Lee, E.L. (Emily L.), Groussin, L. (Lionel), Hamdy, N.A. (Neveen), Hanna, P. (Patrick), Hiort, O. (Olaf), Jüppner, H. (Harald), Kamenický, P. (Peter), Knight, N. (Nina), Kottler, M.-L. (Marie-Laure), Le Norcy, E. (Elvire), Lecumberri, B. (Beatriz), Levine, M.A. (Michael A.), Mäkitie, O. (Outi), Martin, R. (Regina), Martos-Moreno, G.Á. (Gabriel Ángel), Minagawa, M. (Masanori), Murray, P. (Philip), Pereda, A. (Arrate), Pignolo, R. (Robert), Rejnmark, L. (Lars), Rodado, R. (Rebecca), Rothenbuhler, A. (Anya), Saraff, V. (Vrinda), Shoemaker, A.H. (Ashley H.), Shore, E.M. (Eileen M.), Silve, C. (Caroline), Turan, S. (Serap), Woods, P. (Philip), Zillikens, M.C. (Carola), Perez de Nanclares, G. (Guiomar), and Linglart, A. (Agnès)

Abstract

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

Published
2018
Full Text
View/download PDF

2. Diagnosis and management of Silver-Russell syndrome: First international consensus statement

Author

Wakeling, E. (Emma), Brioude, F. (Frédéric), Lokulo-Sodipe, O. (Oluwakemi), O'Connell, S.M. (Susan M.), Salem, J. (Jennifer), Bliek, J. (Jet), Canton, A.P.M. (Ana P. M.), Chrzanowska, K.H. (Krystyna), Davies, J.H. (Justin H.), Dias, R.P. (Renuka), Dubern, B. (Béatrice), Elbracht, M. (Miriam), Giabicani, E. (Eloise), Grimberg, A., Grønskov, K. (Karen), Hokken-Koelega, A.C.S. (Anita), Jorge, A. (Alexander), Kagami, M. (Masayo), Linglart, A. (Agnes), Maghnie, M. (Mohamad), Mohnike, K. (Klaus), Monk, A.B. (Alastair), Moore, G.E. (Gudrun E.), Murray, P.G. (Philip G.), Ogata, T. (Tsutomu), Petit, I.O. (Isabelle Oliver), Russo, S. (Sascha), Said, E. (Edith), Toumba, M. (Meropi), Tümer, Z., Binder, G. (Gerhard), Eggermann, T. (Thomas), Harbison, M.D. (Madeleine D.), Temple, I.K., Mackay, D.M. (Deborah), Netchine, I. (Irène), Wakeling, E. (Emma), Brioude, F. (Frédéric), Lokulo-Sodipe, O. (Oluwakemi), O'Connell, S.M. (Susan M.), Salem, J. (Jennifer), Bliek, J. (Jet), Canton, A.P.M. (Ana P. M.), Chrzanowska, K.H. (Krystyna), Davies, J.H. (Justin H.), Dias, R.P. (Renuka), Dubern, B. (Béatrice), Elbracht, M. (Miriam), Giabicani, E. (Eloise), Grimberg, A., Grønskov, K. (Karen), Hokken-Koelega, A.C.S. (Anita), Jorge, A. (Alexander), Kagami, M. (Masayo), Linglart, A. (Agnes), Maghnie, M. (Mohamad), Mohnike, K. (Klaus), Monk, A.B. (Alastair), Moore, G.E. (Gudrun E.), Murray, P.G. (Philip G.), Ogata, T. (Tsutomu), Petit, I.O. (Isabelle Oliver), Russo, S. (Sascha), Said, E. (Edith), Toumba, M. (Meropi), Tümer, Z., Binder, G. (Gerhard), Eggermann, T. (Thomas), Harbison, M.D. (Madeleine D.), Temple, I.K., Mackay, D.M. (Deborah), and Netchine, I. (Irène)

Abstract

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.

Published
2017
Full Text
View/download PDF

3. Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus

Author

Palles, C. (Claire), Chegwidden, L. (Laura), Li, X. (Xinzhong), Findlay, J.M. (John M.), Farnham, G. (Garry), Castro Giner, F. (Francesc), Peppelenbosch, M.P. (Maikel), Kovac, M. (Michal), Adams, C.L. (Claire), Prenen, H. (Hans), Briggs, S. (Sarah), Harrison, R. (Rebecca), Sanders, S. (Scott), Macdonald, D.R.W. (David), Haigh, K. (Katharina), Tucker, A.T. (Art), Love, S. (Sharon), Nanji, M. (Manoj), Decaestecker, J. (John), Ferry, D.R. (David), Rathbone, B. (Barrie), Hapeshi, J. (Julie), Barr, H. (Hugh), Moayyedi, P. (Paul), Watson, P. (Peter), Zietek, B. (Barbara), Maroo, N. (Neera), Gay, L. (Laura), Underwood, T. (Tim), Boulter, L. (Lisa), McMurtry, H. (Hugh), Monk, A.B. (Alastair), Patel, P. (Poulam), Ragunath, K. (Krish), Al Dulaimi, D. (David), Murray, I. (Iain), Koss, C. (Clara), Veitch, A. (Andrew), Trudgill, N. (Nigel), Nwokolo, C. (Chuka), Rembacken, B., Atherfold, P. (Paul), Green, E.K. (Elaine K), Ang, Y. (Yeng), Kuipers, E.J. (Ernst), Chow, W. (Wu), Paterson, S. (Stuart), Kadri, S. (Sudarshan), Beales, I. (Ian), Grimley, C. (Charles), Mullins, P. (Paul), Beckett, C. (Conrad), Farrant, M. (Mark), Dixon, A. (Andrew), Kelly, S. (Sean), Johnson, M. (Matthew), Wajed, S. (Shahjehan), Dhar, A. (Archana), Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Onstad, L. (Lynn), Gammon, M.D. (Marilie), Corley, D.A. (Douglas), Shaheen, N. (Nazima), Bird, N.C. (Nigel), Hardie, B.G.S. (Bruce), Reid, B.J. (Brian), Ye, W. (Weimin), Liu, G. (Geoffrey), Romero, Y. (Yvonne), Bernstein, L. (Leslie), Wu, A.H. (Anna H.), Casson, A.G. (Alan), Fitzgerald, R.C. (Rebecca), Whiteman, D.C. (David C.), Risch, H. (Harvey), Levine, D.M. (David M.), Vaughan, T.L. (Thomas), Verhaar, A.P. (Auke), Van Den Brande, J. (Jan), Toxopeus, E.L.A. (Eelke), Spaander, M.C.W. (Manon), Wijnhoven, B.P.L. (Bas), Laan, L.J.W. (Luc) van der, Krishnadath, K.K. (Kausilia), Wijmenga, C. (Cisca), Trynka, G. (Gosia), McManus, R. (Ross), Reynolds, J.V. (John V.), O'Sullivan, J. (Jacintha), Macmathuna, P. (Padraic), McGarrigle, S.A. (Sarah A.), Kelleher, D. (Dermot), Vermeire, S. (Séverine), Cleynen, I. (Isabelle), Bisschops, R. (Raf), Tomlinson, I.P. (Ian), Jankowski, J.A. (Janusz Antoni), Palles, C. (Claire), Chegwidden, L. (Laura), Li, X. (Xinzhong), Findlay, J.M. (John M.), Farnham, G. (Garry), Castro Giner, F. (Francesc), Peppelenbosch, M.P. (Maikel), Kovac, M. (Michal), Adams, C.L. (Claire), Prenen, H. (Hans), Briggs, S. (Sarah), Harrison, R. (Rebecca), Sanders, S. (Scott), Macdonald, D.R.W. (David), Haigh, K. (Katharina), Tucker, A.T. (Art), Love, S. (Sharon), Nanji, M. (Manoj), Decaestecker, J. (John), Ferry, D.R. (David), Rathbone, B. (Barrie), Hapeshi, J. (Julie), Barr, H. (Hugh), Moayyedi, P. (Paul), Watson, P. (Peter), Zietek, B. (Barbara), Maroo, N. (Neera), Gay, L. (Laura), Underwood, T. (Tim), Boulter, L. (Lisa), McMurtry, H. (Hugh), Monk, A.B. (Alastair), Patel, P. (Poulam), Ragunath, K. (Krish), Al Dulaimi, D. (David), Murray, I. (Iain), Koss, C. (Clara), Veitch, A. (Andrew), Trudgill, N. (Nigel), Nwokolo, C. (Chuka), Rembacken, B., Atherfold, P. (Paul), Green, E.K. (Elaine K), Ang, Y. (Yeng), Kuipers, E.J. (Ernst), Chow, W. (Wu), Paterson, S. (Stuart), Kadri, S. (Sudarshan), Beales, I. (Ian), Grimley, C. (Charles), Mullins, P. (Paul), Beckett, C. (Conrad), Farrant, M. (Mark), Dixon, A. (Andrew), Kelly, S. (Sean), Johnson, M. (Matthew), Wajed, S. (Shahjehan), Dhar, A. (Archana), Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Onstad, L. (Lynn), Gammon, M.D. (Marilie), Corley, D.A. (Douglas), Shaheen, N. (Nazima), Bird, N.C. (Nigel), Hardie, B.G.S. (Bruce), Reid, B.J. (Brian), Ye, W. (Weimin), Liu, G. (Geoffrey), Romero, Y. (Yvonne), Bernstein, L. (Leslie), Wu, A.H. (Anna H.), Casson, A.G. (Alan), Fitzgerald, R.C. (Rebecca), Whiteman, D.C. (David C.), Risch, H. (Harvey), Levine, D.M. (David M.), Vaughan, T.L. (Thomas), Verhaar, A.P. (Auke), Van Den Brande, J. (Jan), Toxopeus, E.L.A. (Eelke), Spaander, M.C.W. (Manon), Wijnhoven, B.P.L. (Bas), Laan, L.J.W. (Luc) van der, Krishnadath, K.K. (Kausilia), Wijmenga, C. (Cisca), Trynka, G. (Gosia), McManus, R. (Ross), Reynolds, J.V. (John V.), O'Sullivan, J. (Jacintha), Macmathuna, P. (Padraic), McGarrigle, S.A. (Sarah A.), Kelleher, D. (Dermot), Vermeire, S. (Séverine), Cleynen, I. (Isabelle), Bisschops, R. (Raf), Tomlinson, I.P. (Ian), and Jankowski, J.A. (Janusz Antoni)

Abstract

Background & Aims Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found the risk to be BE has been associated with single nucleotide polymorphisms (SNPs) on chromosome 6p21 (within the HLA region) and on 16q23, where the closest protein-coding gene is FOXF1. Subsequently, the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) identified risk loci for BE and esophageal adenocarcinoma near CRTC1 and BARX1, and within 100 kb of FOXP1. We aimed to identify further SNPs that increased BE risk and to validate previously reported associations. Methods We performed a genome-wide association study (GWAS) to identify variants associated with BE and further analyzed promising variants identified by BEACON by genotyping 10,158 patients with BE and 21,062 controls. Results We identified 2 SNPs not previously associated with BE: rs3072 (2p24.1; odds ratio [OR] = 1.14; 95% CI: 1.09-1.18; P = 1.8 × 10-11) and rs2701108 (12q24.21; OR = 0.90; 95% CI: 0.86-0.93; P = 7.5 × 10-9). The closest protein-coding genes were respectively GDF7 (rs3072), which encodes a ligand in the bone morphogenetic protein pathway, and TBX5 (rs2701108), which encodes a transcription factor that regulates esophageal and cardiac development. Our data also supported in BE cases 3 risk SNPs identified by BEACON (rs2687201, rs11789015, and rs10423674). Meta-analysis of all data identified another SNP associated with BE and esophageal adenocarcinoma: rs3784262, within ALDH1A2 (OR = 0.90; 95% CI: 0.87-0.93; P = 3.72 × 10-9). Conclusions We identified 2 loci associated with risk of BE and provided data to support a further locus. The genes we found to be associated with risk for BE encode transcription factors involved in thoracic, diaphragmatic, and esophageal development or proteins involved in the inflammatory response.

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results