Results 71 to 80 of about 6,576 (240)

Congenital hyperinsulinism and mosaic abnormalities of the ploidy [PDF]

Journal of Medical Genetics, 2005
BACKGROUND: Congenital hyperinsulinism and Beckwith-Wiedemann syndrome both lead to beta islet hyperplasia and neonatal hypoglycaemia. They may be related to complex genetic/epigenetic abnormalities of the imprinted 11p15 region. The possibility of common pathophysiological determinants has not been thoroughly investigated.
Giurgea, Irina, Sanlaville, D., Fournet, J. C., Sempoux, C., Bellanné-Chantelot, C., Touati, G., Hubert, L., Groos, M. S., Brunelle, F., Rahier, J., Henquin, J. C., Dunne, M. J., Jaubert, F., Robert, J. J., Nihoul-Fékété, C., Vekemans, M., Junien, C., De Lonlay, P.   +17 more
openaire   +3 more sources

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient

Orphanet Journal of Rare Diseases, 2017
We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with ...
Indraneel Banerjee, Diva De Leon, Mark J. Dunne   +2 more
doaj   +1 more source

Neonatal Outcomes Among Neonates of Women With and Without Type 1 Diabetes in Sweden From 2010 to 2022

Acta Paediatrica, EarlyView.
Neonatal outcomes among neonates of women with and without type 1 diabetes in Sweden from 2010 to 2022 by Goldberg A. et al. ABSTRACT Aim This register‐based study aimed to investigate differences in adverse neonatal outcomes between neonates born to mothers with and without type 1 diabetes in Sweden.
Alexandra Goldberg, Eva Wiberg‐Itzel, Joanna Tingström, Cecilia Ekéus   +3 more
wiley   +1 more source

Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report [PDF]

, 2018
K
Balogh, István, Balogh, Lídia, Gombos, Éva, Kappelmayer, János, Madar, László, Molnár, Zsuzsanna   +5 more
core  

Tissue Sodium Content and Arterial Hypertension in Obese Adolescents [PDF]

, 2019
Early-onset obesity is known to culminate in type 2 diabetes, arterial hypertension and subsequent cardiovascular disease. The role of sodium (Na+) homeostasis in this process is incompletely understood, yet correlations between Na+ accumulation and ...
Berger, Felix, Birukov, Anna, Ghorbani, Niky, Hennemuth, Anja, Jones, Alexander, Kelm, Marcus, Kuehne, Titus, Kühnen, Peter, Linz, Peter, Markó, Lajos, Müller, Dominik N., Roth, Sophie, Wiegand, Susanna   +12 more
core   +3 more sources

A case of neonatal persistent hyperinsulinemichypoglycemia

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2022
Neonatal hypoglycemia (NH) is a common and important cause of morbidity in newborns. The most common cause of NH is congenital hyperinsulinism (CHI), a phenotypical and genotypical heterogeneous condition characterized by inappropriate insulin secretion.
Mauro Iannelli, Alessandra Li Pomi, Fabio Sippelli, A. Spagnolo, I. Rulli, Fortunato Lombrado, Malgorzata Gabriela Wasniewska, Tommaso Aversa, Eloisa Gitto   +8 more
doaj   +1 more source

Sex‐specific white matter alterations in children exposed to high pregestational BMI

Obesity, Volume 33, Issue 6, Page 1113-1125, June 2025.
Abstract Objective This study investigated whether exposure to high pregestational BMI (≥ 25 kg/m2) is associated with alterations in white matter microstructure in early childhood, explored sex‐specific effects, and examined associations with cognitive performance. Methods A total of 90 children from the Alberta Pregnancy Outcomes and Nutrition (APrON)
Samson Nivins, Jess Reynolds, Gerald F. Giesbrecht, Deborah Dewey, Nicole Letourneau, Catherine Lebel   +5 more
wiley   +1 more source

State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Continuous glucose monitoring (CGM) is increasingly used although not officially registered for the management of people living with liver glycogen storage diseases (GSDs). The aims of this study were twofold: (a) to investigate the current experiences of healthcare providers (HCPs), patients, and caregivers using CGM to monitor glucose ...
Terry G. J. Derks, Ruben J. Overduin, Sarah C. Grünert, Alessandro Rossi, CGM GSD Collaborators Group, Terry G. J. Derks, Ruben J. Overduin, Bibiana M. de Oliveira, Julien H. Park, David Weinstein, Diva D. De Leon, Yuval E. Landau, Alessandro La Rosa, Damian Cohen, Anke Schumann, Anne Kwok Mei Kwun, Yunkoo Kang, Foekje de Boer, María Clemente, Wendy E. Smith, Margo Sheck Breilyn, Rebecca Riba‐Wolman, Karen Loechner, Malaya Mount, John Mitchell, Samantha Vergano, Stefanie Rosenbaum‐Fabian, Shaylee King, Iris Ferrecchia, Kaustuv Bhattacharya, David F. Rodriguez‐Buritica, Katalin Ross, Anastasia Skouma, Allan M. Lund, Elizabeth Robinson, Caitie Hessenthaler, Emma Corcoran, Tassia Tonon, Daniela Karall, Laura Sliwoski, Ulrike Steuerwald, Patricia Pérez Mohand, Julieta Bonvin Sallago, Nerea López Maldonado, Renee Bethel, Monica Boyer, Timothy Fazio, Vincenza Gragnaniello, María‐Luz Couce, Chiara Falanga, Urh Groselj, Brandy Rawls‐Castillo, Zazil Olivares‐Sandoval, Carolina F. Moura de Souza, Sabine Scholl‐Buergi, Annalisa Madeo, Julia B. Hennermann, Eva Venegas, Arianna Maiorana, Dorothea Haas, Benjamin Weil, Eva Thimm, Alboren Shtylla, Thomas Opladen, Thomas Scherer, Danielle K. Bourque, Tergita Preci, Michel Hochuli, Thomas Casswall, Ellen Crushell, Shagun Kaur, Petra Zsidegh, Risto Lapatto, Matthias Gautschi, Dorothea Möslinger, Peter Witters, Ute Stachelhaus‐Theimer, Flannery Tomberlin, Ana Drole Torkar, Elena Procopio, Luisa Diogo Matos, Saskia Wortmann, Julia Neugebauer, Teresa Rink, Natalie Weinhold, Suresh Vijay, Krista Engen, Jean‐Marc Nuoffer, Andrea Haijer‐Schreuder, Peter Freisinger, Monika Williams, Patricia Janeiro, Justė Parnarauskienė, Çiğdem Seher Kasapkara, Miguel Angel Martinez Olmos, Areeg El‐Gharbawy, Heather Saavedra, Nicola Longo, Magali Reyes Apodaca, Sunita Bijarnia‐Mahay, Leyla Tümer, Martina Huemer, René Santer, Lina Ghaloul‐Gonzalez, Katherine Anderson, Rebecca L. Koch, Christian Kogelmann, Annamaria Sapuppo, Brian Shayota, Melanie M. van der Klauw, Fatih Ezgu, Clemens Kamrath, Camilla Carøe, Karolina M. Stepien, Fiona White, Sarah C. Grünert, Alessandro Rossi   +116 more
wiley   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

What neonatal complications should the pediatrician be aware of in case of maternal gestational diabetes? [PDF]

, 2015
In the epidemiologic context of maternal obesity and type 2 diabetes (T2D), the incidence of gestational diabetes has significantly increased in the last decades.
Mitanchez, D., Simeoni, U., Yzydorczyk, C.   +2 more
core   +1 more source