Results 61 to 70 of about 4,191 (204)

Congenital hyperinsulinism with hyperammonaemia

BMJ Case Reports, 2010
Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Alex, Pschibul, Jörg, Müller, Hubert, Fahnenstich   +2 more
openaire   +3 more sources

Strategies for optimization of hypoglycemia rat models

Animal Models and Experimental Medicine, Volume 8, Issue 9, Page 1590-1610, September 2025.
This review focuses on rat models for studying the short‐term and long‐term effects of mild and severe hypoglycemia. We explored the physiological mechanisms to understand the consequences of hypoglycemia in rat experimental models. This study sheds light on uncovering the therapeutic potential for hypoglycemic patients and its efficacy in mitigating ...
Lee Yeong Zher, Eason Kong Qi Zheng, Rayneshia Elaura Raymond, Ye Zhen Jie, Christina Gertrude Yap   +4 more
wiley   +1 more source

Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy

Journal of Pediatric Surgery Case Reports, 2019
Background: Congenital hyperinsulinism is a rare disease and patients not responding to medical treatment need near-total or partial pancreatectomy, dependent on whether they have diffuse or focal hyperinsulinism, respectively.
Martin Sidler, Pratik Shah, Michael Ashworth, Paolo De Coppi   +3 more
doaj   +1 more source

Pancreatic Islet Cell Hormones: Secretion, Function, and Diabetes Therapy

MedComm, Volume 6, Issue 9, September 2025.
The pancreatic islets, composed of α, β, δ, ε, and PP cells, play a central role in maintaining glucose homeostasis. This review examines the mechanisms of islet hormone secretion and their functional crosstalk networks, alongside the pathophysiology of diabetes driven by hormonal dysregulation.
Jinfang Ma, Mao Li, Lingxiao Yang, Qingxing Xie, Rongping Fan, Xi Lu, Xing Huang, Nanwei Tong, Zhenyu Duan   +8 more
wiley   +1 more source

A novel mutation of gene in a patient with diazoxide-unresponsive congenital hyperinsulinism [PDF]

Korean Journal of Pediatrics, 2016
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion.
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park   +2 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

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, Sachithanandan   +6 more
doaj   +1 more source

Erythematous Papules and Plaques in an Infant Receiving Glucagon Therapy

JEADV Clinical Practice, Volume 4, Issue 5, Page 1263-1266, December 2025.
Sara Al Janahi, Alya Al‐Ali, Meera Al Adawi, Yusra S. Al Ali, Harish Bangalore   +4 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