Results 51 to 60 of about 1,403 (143)

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

Hyperinsulinism

Endocrines, 2022
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children.
Ethel Gonzales Clemente, Shibani Kanungo, Christine Schmitt, Dana Maajali   +3 more
doaj   +1 more source

Riemannian Prediction of Anatomical Diagnoses in Congenital Heart Disease based on 12-lead ECGs [PDF]

arXiv, 2023
Congenital heart disease (CHD) is a relatively rare disease that affects patients at birth and results in extremely heterogeneous anatomical and functional defects. 12-lead ECG signal is routinely collected in CHD patients because it provides significant biomarkers for disease prognosis.
arxiv  

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1120-1128, November 2024.
Abstract The pathway of ammonia disposal in the mammalian organism has been described in 1932 as a metabolic cycle present in the liver in different compartments. In 1958, the first human disorder affecting this pathway was described as a genetic condition leading to cognitive impairment and constant abnormalities of amino acid metabolism.
Johannes Häberle, Barbara Siri, Carlo Dionisi‐Vici   +2 more
wiley   +1 more source

Congenital insulin resistance in the practice of the pediatrician and pediatric endocrinologist -path to diagnosis

Медицинский совет, 2021
Introduction. Hyperinsulinemic hypoglycemia in children is most commonly due to congenital hyperinsulinism. When hyperinsu-linemia is accompanied by fasting hypoglycemia and postprandial hyperglycemia, rare syndromes of severe insulin resistance, which ...
I. L. Nikitina, A. M. Todieva, A. S. Liskina, A. О. Plaksina, N. A. Petrova, I. A. Leonova, E. К. Kudryashova, A. A. Kostareva, J. I. Vasilyeva   +8 more
doaj   +1 more source

Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Beckwith–Wiedemann spectrum (BWSp) is caused by genetic and epigenetic alterations on chromosome 11 that regulate cell growth and division. Considering the diverse phenotypic landscape in BWSp, the characterization of the CDKN1C molecular subtype remains relatively limited. Here, we investigate the role of CDKN1C in the broader BWSp phenotype.
Andrew M. George, Aravind Viswanathan, Lyle G. Best, Caitlin Monahan, Maria Limmina, Arupa Ganguly, Jennifer M. Kalish   +6 more
wiley   +1 more source

Neonatal congenital hyperinsulinism in Indonesia

Journal of Pediatric Surgery Case Reports, 2021
Introduction: Congenital hyperinsulinism (CHI) is resulted from dysregulated insulin secretion from hyperplastic and hyperactive but apparently normally structured β-cells islet.
I.Made Arimbawa, I.Wayan Eka Satriawibawa, Kadek Deddy Ariyanta, I.Made Darmajaya, Pande Putu Yuli Anandasari, Luh Putu Iin Indrayani Maker   +5 more
doaj  

Retrospective study evaluating safety, clinical effect, and dosing of dalteparin for the treatment of venous thromboembolism in term neonates

Pediatric Blood &Cancer, Volume 71, Issue 10, October 2024.
Abstract Background There is an increased risk of venous thromboembolism (VTE) among neonates due to their unique hemostatic system. However, there is lack of approved treatment options for VTE in neonatal population. Importantly, dalteparin, a low molecular weight heparin approved for pediatric VTE in children ≥1 month of age, has also been used for ...
Nancy Sherman, Muhammad Younus, Kevin Wolter, Suresh Victor, Venkatesh Kairamkonda, Eleri Adams, Helen Brotherton, Elaine M. Boyle   +7 more
wiley   +1 more source

Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care

Clinical Endocrinology, Volume 101, Issue 4, Page 332-345, October 2024.
Abstract The adolescent period is characterised by fundamental hormonal changes, which affect sex steroid production, cortisol metabolism and insulin sensitivity. These physiological changes have a significant impact on patients with congenital adrenal hyperplasia (CAH).
Chamila Balagamage, Amynta Arshad, Yasir S. Elhassan, Wogud Ben Said, Ruth E. Krone, Helena Gleeson, Jan Idkowiak   +6 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