Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Evgenia, Globa"'
Autor:
Evgenia Globa, Henrik Thybo Christesen, Michael Bau Mortensen, Jayne A. L. Houghton, Anne Lerberg Nielsen, Sönke Detlefsen, Sarah E. Flanagan
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionCongenital Hyperinsulinism (CHI) has not been previously studied in Ukraine. We therefore aimed to elucidate the genetics, clinical phenotype, histological subtype, treatment and long-term outcomes of Ukrainian patients with CHI.MethodsFo
Externí odkaz:
https://doaj.org/article/576ffff65bc441a9ae9e8c0864fd58d7
Autor:
A Shaikh, J Dhivyalakshmi, A Kulkarni, Sarah E Flanagan, Andrew T Hattersley, C Alves, A Khadilkar, V Khadilkar, J Wolf, C Oza, A Ozdemir, Z Imane, Evgenia Globa, Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Matthew N Wakeling, Kashyap Amratlal Patel, Elisa De Franco, P K Varthakavi, V Skrabic, I Unic, M Amoli, V Thiruvengadam, B Haliloglu, M Yildiz, N Elbarbary
Publikováno v:
BMJ Open Diabetes Research & Care, Vol 12, Iss 6 (2024)
Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature.Research design and methods To determine the phenoty
Externí odkaz:
https://doaj.org/article/3e8b62c00de44765be3244a6d5cbe058
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Tim Cheetham, Sukran Poyrazoglu, Justin H Davies, S Faisal Ahmed, Jillian Bryce, Anna Nordenström, Angela K Lucas-Herald, Paul-Martin Holterhus, Marcio Lopes Miranda, Stuart O’Toole, Eduardo Corrêa Costa, Kathryn Scougall, Federico Baronio, Rachel L Boal, Jose Roberto Castera, Sebastián Castro, Feyza Darendeliler, Mirjam Dirlewanger, Gabriella Gazdagh, Evgenia Globa, Gil Guerra-Junior, Tulay Guran, Gloria Herrmann, Ahsen Karagözlü Akgül, Renata Markosyan, Kenneth McElreavey, Gianni Russo, Valerie Schwitzgebel, Marianna Stancampiano, Michael Steigert
Publikováno v:
World Journal of Pediatric Surgery, Vol 6, Iss 4 (2023)
Background Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.Methods Data from boys with hypospadias born between 2000 and 2020 were obtained from the Internat
Externí odkaz:
https://doaj.org/article/b2a11fe3b8a642f185956951b5a23a49
Autor:
Evgenia Globa, Natalia Zelinska, Yulia Shcherbak, Joelle Bignon-Topalovic, Anu Bashamboo, Ken MсElreavey
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundThe clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.Materials and MethodsWe established the Ukrainian DSD Register and identified 682 DSD patients. This cohor
Externí odkaz:
https://doaj.org/article/a046269225874ef785a0801ed84139dc
Autor:
Julie Bendix, Mette G. Laursen, Michael B. Mortensen, Maria Melikian, Evgenia Globa, Sönke Detlefsen, Lars Rasmussen, Henrik Petersen, Klaus Brusgaard, Henrik T. Christesen
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Background: Focal congenital hyperinsulinism (CHI) may be cured by resection of the focal, but often non-palpable, pancreatic lesion. The surgical challenge is to minimize removal of normal pancreatic tissue.Aim: To evaluate the results of intraopera
Externí odkaz:
https://doaj.org/article/51cc00911a344d1b9947f6458a62bda0
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Background. Geleophysic dysplasia is a rare multisystem disorder that principally affects the bones, joints, heart, and skin. This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive patte
Externí odkaz:
https://doaj.org/article/cb5b27206c804b5494fff97b37845cd1
Publikováno v:
Diabetic medicine : a journal of the British Diabetic Association.
The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for paediatric diabetes patients in Ukraine.We established a Pediatric Diabetes Register to identify patients diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011d0e824597e065568438230a7d9a35
https://pubmed.ncbi.nlm.nih.gov/36398453
https://pubmed.ncbi.nlm.nih.gov/36398453
Autor:
Marek Niedziela, Evgenia Globa, Federico Baronio, Jillian Bryce, Ajay Thankamony, Angela K Lucas-Herald, Silvano Bertelloni, Feyza Darendeliler, Daniel Konrad, Vilhelm Mladenov, Graziano Barera, Zofia Kolesinska, Margherita Valiani, Violeta Iotova, Marianna R Stancampiano, Antonio Balsamo, S Faisal Ahmed, Martine Cools, Anna Nordenström, Rieko Tadokoro-Cuccaro, Sukran Poyrazoglu, Gianni Russo, Sabine E. Hannema, Inas Mazen, Ieuan A Hughes, Lloyd Tack, Romina P Grinspon
Publikováno v:
SEXUAL DEVELOPMENT
Sexual Development, 15(4), 236-243. Karger
Stancampiano, M R, Lucas-Herald, A K, Bryce, J, Russo, G, Barera, G, Balsamo, A, Baronio, F, Bertelloni, S, Valiani, M, Cools, M, Tack, L J W, Darendeliler, F, Poyrazoglu, S, Globa, E, Grinspon, R, Hannema, S E, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Mladenov, V, Konrad, D, Mazen, I, Niedziela, M, Kolesinska, Z, Nordenström, A & Ahmed, S F 2021, ' Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism : Results of an International Survey from the I-DSD Registry ', Sexual development, vol. 15, no. 4, pp. 236-243 . https://doi.org/10.1159/000516784
Sexual development, 15(4), 236-243. S. Karger AG
Sexual Development, 15(4), 236-243. Karger
Stancampiano, M R, Lucas-Herald, A K, Bryce, J, Russo, G, Barera, G, Balsamo, A, Baronio, F, Bertelloni, S, Valiani, M, Cools, M, Tack, L J W, Darendeliler, F, Poyrazoglu, S, Globa, E, Grinspon, R, Hannema, S E, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Mladenov, V, Konrad, D, Mazen, I, Niedziela, M, Kolesinska, Z, Nordenström, A & Ahmed, S F 2021, ' Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism : Results of an International Survey from the I-DSD Registry ', Sexual development, vol. 15, no. 4, pp. 236-243 . https://doi.org/10.1159/000516784
Sexual development, 15(4), 236-243. S. Karger AG
It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72fb0cd0de32df0177d9c31281634f1
http://www.scopus.com/inward/record.url?scp=85110085925&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85110085925&partnerID=8YFLogxK
Autor:
Annett Helleskov, Maria Melikyan, Evgenia Globa, Inna Shcherderkina, Fani Poertner, Anna-Maria Larsen, Karen Filipsen, Klaus Brusgaard, Charlotte Dahl Christiansen, Lars Kjaersgaard Hansen, Henrik T. Christesen
Publikováno v:
Frontiers in Endocrinology, Vol 8 (2017)
Background/aimsCongenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the t
Externí odkaz:
https://doaj.org/article/bc028854e96c4b3db33752cb530b156d