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Prophylactic low-dose hydrocortisone in neonates born extremely preterm: current knowledge and future challenges.
Pediatr Res
November 2024
Neonatal Intensive Care Unit, Saint Vincent de Paul Hospital, GHICL, Lille, France.
Article Synopsis
- * Research shows that this treatment can lower mortality rates, improve chances of survival without BPD, and support heart function and urine output, but there are concerns about risks like intestinal perforation and late-onset infections, especially in very premature infants.
- * While long-term developmental outcomes appear unaffected, ongoing discussions focus on the ideal patient population, timing, duration of treatment, and obstacles to applying this treatment as guidelines evolve.
Secondary CNS involvement (SCNSL) is a rare manifestation of diffuse large B-cell lymphoma (DLBCL) with a poor prognosis. We present updated data from a nationwide study on the incidence and clinical characteristics of SCNSL. The incidence of SCNSL was calculated considering death or relapse without SCNSL as competing risks.
View Article and Find Full Text PDF21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.
Exp Clin Endocrinol Diabetes
November 2024
Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Aim: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity.
Methods: In the Czech Republic, 1,866,129 neonates were screened (2006-2022).
A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.
Pediatr Allergy Immunol
September 2024
Institute of Child Health, Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- PI3K is involved in immune function, and defects in the PI3K/AKT/mTOR pathway lead to issues like recurrent infections, autoimmunity, and abnormal immune cell proliferation.
- The study analyzed 12 patients with different PIK3 variants, revealing a long diagnostic delay and common symptoms such as respiratory infections and autoimmune issues in those with activated PI3K delta syndrome (APDS).
- Molecular genetic analysis is essential for accurate diagnosis of these immune defects, as laboratory findings can help distinguish between APDS and other conditions related to immune dysregulation.
Reversible central adrenal insufficiency in survivors of COVID-19: results from a 24-month longitudinal study.
Endocr Connect
September 2024
Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Objective: We studied the temporal course of hypothalamic-pituitary-adrenal (HPA) dysfunction in patients with coronavirus disease 2019 (COVID-19).
Methods: Three hundred and two patients (median age 54 years (interquartile range (IQR) 42-64), 76% males) were recruited. The HPA axis was evaluated by morning cortisol and adrenocorticotrophic hormone (ACTH) at admission (n = 232).
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