Results 91 to 100 of about 6,576 (240)

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next‐generation sequencing.
Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D. Botto, Emily Flemming, N. Scott Reading, Catalina Jaramillo, Balraj Mittal   +12 more
wiley   +1 more source

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 [PDF]

, 2020
ongenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are important as they inform health ...
Ellard, Sian, Flanagan, S. E., Houghton, Jayne A. L., Laver, T. W.   +3 more
core   +2 more sources

Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract Simpson‐Golabi‐Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2.
Alex F. Nisbet, Aravind Viswanathan, Andrew M. George, Pedro Arias, Steven D. Klein, Julian Nevado, Alejandro Parra, Patricia Pascual, Dominic J. Romeo, Jair Tenorio‐Castaño, Jesse A. Taylor, Elaine H. Zackai, Pablo Lapunzina, Jennifer M. Kalish   +13 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

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

Polish Journal of Pathology, 2017
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek   +3 more
doaj   +1 more source

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

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

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

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +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