This analysis included quantification of intrafraction motion in pancreas stereotactic ablative radiotherapy treated on the MR‐Linac, leading to the development of adjusted (PTV) margins. Intrafraction motion indicated an average target displacement of 1–3 mm, resulting in an adjusted PTV margin of 2 mm in the right–left and superior–inferior ...
Ashleigh Fasala +6 more
wiley +1 more source
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi +59 more
core +2 more sources
Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance [PDF]
Talat Mushtaq +15 more
openalex +1 more source
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Bilateral adrenal hemorrhage and severe anemia in a neonate
Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention.
Christina Lee +3 more
doaj +1 more source
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. [PDF]
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita.
Achermann, JC +3 more
core +1 more source
Abstract Hepatitis C virus (HCV) remains a significant global health burden, with vertical transmission being the primary route of infection in children. Direct‐acting antivirals (DAAs) have transformed HCV treatment in pediatrics, but limited data exist on their administration in medically complex children who are dependent on enteral tubes. We report
Connie Chen, Leah Gibson, James Squires
wiley +1 more source
Disorders of sex development: challenges for the future [PDF]
No abstract ...
Ahmed +14 more
core +1 more source
Hypothalamic-pituitary-adrenal (HPA) axis suppression after treatment with glucocorticoid therapy for childhood acute lymphoblastic leukaemia [PDF]
Background Glucocorticoids play a major role in the treatment of acute lymphoblastic leukaemia (ALL). However, supraphysiological doses may cause suppression of the hypothalamic-pituitary-adrenal (HPA) axis.
Abdu +41 more
core +2 more sources
Corticosteroid Exposure in Chronic Rhinosinusitis and Global Airway Disease: Adrenal and Bone Impact
ABSTRACT Objective To investigate cumulative corticosteroid (CC) burden in patients with chronic rhinosinusitis with nasal polyps (CRSwNP), with or without coexisting asthma (global airway disease, GAD), referred for biologic treatment, and to assess the prevalence of CC‐related comorbidities, including secondary adrenal insufficiency, osteopenia and ...
Christiane Haase +7 more
wiley +1 more source

