Pediatric Frontiers: Weekly Insights
Pediatria
Pediatric Advances in Genetic Therapies and Chronic Disease Management
This week we explore groundbreaking advances in pediatric genetic therapies, chronic disease management, and innovative treatments across multiple specialties. From gene replacement for SMA to CFTR modulators and mitochondrial therapies, we discuss the latest research transforming pediatric care.
Bibliography
1. Cystic fibrosis year in review 2025.
Authors: T Pallenberg S, Zamarrón de Lucas E, Párniczky A, et al.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2026 Mar
PMID: 41781219
DOI: 10.1016/j.jcf.2026.02.010
2. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Authors: Speiser PW, Arlt W, Auchus RJ, et al.
Journal: The Journal of clinical endocrinology and metabolism, 2018 Nov 1
PMID: 30272171
DOI: 10.1210/jc.2018-01865
3. Bronchopulmonary dysplasia.
Authors: Thébaud B, Goss KN, Laughon M, et al.
Journal: Nature reviews. Disease primers, 2019 Nov 14
PMID: 31727986
DOI: 10.1038/s41572-019-0127-7
4. Mitochondrial DNA Modification in Assisted Reproduction: Concept to Practice-A Narrative Review.
Authors: Mohsin MM, Azher M, Asghar F, et al.
Journal: International journal of molecular sciences, 2026 Mar 23
PMID: 41898747
DOI: 10.3390/ijms27062890
5. Rituximab for High-Risk, Mature B-Cell Non-Hodgkin's Lymphoma in Children.
Authors: Minard-Colin V, Aupérin A, Pillon M, et al.
Journal: The New England journal of medicine, 2020 Jun 4
PMID: 32492302
DOI: 10.1056/NEJMoa1915315
6. Kawasaki Disease: an Update.
Authors: Rife E, Gedalia A
Journal: Current rheumatology reports, 2020 Sep 13
PMID: 32924089
DOI: 10.1007/s11926-020-00941-4
7. Embracing the challenges of neonatal and paediatric pulmonary hypertension.
Authors: Ivy D, Rosenzweig EB, Abman SH, et al.
Journal: The European respiratory journal, 2024 Oct
PMID: 39209483
DOI: 10.1183/13993003.01345-2024
8. A Mediterranean lifestyle obesity prevention intervention in preschoolers at risk: MELI-POP Study-a randomized controlled trial.
Authors: Larruy-García A, De Miguel-Etayo P, Gil-Campos M, et al.
Journal: European journal of pediatrics, 2026 Mar 24
PMID: 41874667
DOI: 10.1007/s00431-026-06844-3
9. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.
Authors: Mendell JR, Al-Zaidy S, Shell R, et al.
Journal: The New England journal of medicine, 2017 Nov 2
PMID: 29091557
DOI: 10.1056/NEJMoa1706198
10. Recent Advances in Pathophysiology and Management of Transient Tachypnea of Newborn.
Authors: Alhassen Z, Vali P, Guglani L, et al.
Journal: Journal of perinatology : official journal of the California Perinatal Association, 2021 Jan
PMID: 32753712
DOI: 10.1038/s41372-020-0757-3
Authors: T Pallenberg S, Zamarrón de Lucas E, Párniczky A, et al.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2026 Mar
PMID: 41781219
DOI: 10.1016/j.jcf.2026.02.010
2. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Authors: Speiser PW, Arlt W, Auchus RJ, et al.
Journal: The Journal of clinical endocrinology and metabolism, 2018 Nov 1
PMID: 30272171
DOI: 10.1210/jc.2018-01865
3. Bronchopulmonary dysplasia.
Authors: Thébaud B, Goss KN, Laughon M, et al.
Journal: Nature reviews. Disease primers, 2019 Nov 14
PMID: 31727986
DOI: 10.1038/s41572-019-0127-7
4. Mitochondrial DNA Modification in Assisted Reproduction: Concept to Practice-A Narrative Review.
Authors: Mohsin MM, Azher M, Asghar F, et al.
Journal: International journal of molecular sciences, 2026 Mar 23
PMID: 41898747
DOI: 10.3390/ijms27062890
5. Rituximab for High-Risk, Mature B-Cell Non-Hodgkin's Lymphoma in Children.
Authors: Minard-Colin V, Aupérin A, Pillon M, et al.
Journal: The New England journal of medicine, 2020 Jun 4
PMID: 32492302
DOI: 10.1056/NEJMoa1915315
6. Kawasaki Disease: an Update.
Authors: Rife E, Gedalia A
Journal: Current rheumatology reports, 2020 Sep 13
PMID: 32924089
DOI: 10.1007/s11926-020-00941-4
7. Embracing the challenges of neonatal and paediatric pulmonary hypertension.
Authors: Ivy D, Rosenzweig EB, Abman SH, et al.
Journal: The European respiratory journal, 2024 Oct
PMID: 39209483
DOI: 10.1183/13993003.01345-2024
8. A Mediterranean lifestyle obesity prevention intervention in preschoolers at risk: MELI-POP Study-a randomized controlled trial.
Authors: Larruy-García A, De Miguel-Etayo P, Gil-Campos M, et al.
Journal: European journal of pediatrics, 2026 Mar 24
PMID: 41874667
DOI: 10.1007/s00431-026-06844-3
9. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.
Authors: Mendell JR, Al-Zaidy S, Shell R, et al.
Journal: The New England journal of medicine, 2017 Nov 2
PMID: 29091557
DOI: 10.1056/NEJMoa1706198
10. Recent Advances in Pathophysiology and Management of Transient Tachypnea of Newborn.
Authors: Alhassen Z, Vali P, Guglani L, et al.
Journal: Journal of perinatology : official journal of the California Perinatal Association, 2021 Jan
PMID: 32753712
DOI: 10.1038/s41372-020-0757-3
