Results 101 to 110 of about 510,633 (288)

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism [PDF]

Frontiers in Endocrinology, 2019
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects.
Sara Al-Khawaga, Sonya Galcheva, Huseyin Demirbilek, Khalid Hussain   +3 more
openaire   +4 more sources

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

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

Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age [PDF]

, 2013
OBJECTIVE: To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight 6 months. Normoglycaemia on diazoxide
Arya, Ved Bhushan, Ellard, Sian, Flanagan, Sarah E, Hamilton-Shield, Julian P, Hussain, Khalid, Kapoor, Ritika R, Kumaran, Anitha   +6 more
core   +1 more source

Pasireotide treatment for severe congenital hyper-insulinism due to a homozygous ABCC8 mutation [PDF]

, 2021
ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases.
Barthlen, Winfried, Bikker, Hennie, Mohnike, Klaus, Mooij, Christiaan F., Oomen, Matthijs W. N., Tacke, Carline E., van Albada, Mirjam E., van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, Nitash   +8 more
core   +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

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Gene Biomarkers in Congenital Hyperinsulinism

International Journal of Life Science and Pharma Research
Congenital hyperinsulinism (CHI) is a rare type of disease that causes a severe drop in blood sugar in infants. This diseaseprevents reaching enough sugar to the child’s brain and causes lifelong and permanent damage.
Reza Valizadeh, Hossein Seidkhani, Zahra Mohebinejad, Forouzan Kavarizadeh, Abbass Arefipour   +4 more
semanticscholar   +1 more source

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]

, 2019
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv   +1 more source

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