March 2018 ORIGINAL ARTICLES ventilation on respiratory outcomes in extremely low-birth-weight infants. 13. Thomas M, Greenough A, Morton M. Prolonged ventilation and intact JAMA Pediatr 2015;169:1011-7. survival in very low birth weight infants. Eur J Pediatr 2003;162:65-7. 7. Kinsella JP, Greenough A, Abman SH. Bronchopulmonary dysplasia. Lancet 14. Gaillard EA, Cooke RW, Shaw NJ. Improved survival and 2006;367:1421-31. neurodevelopmental outcome after prolonged ventilation in preterm neo- 8. Jensen EA, Schmidt B. Epidemiology of bronchopulmonary dysplasia. Birth nates who have received antenatal steroids and surfactant. Arch Dis Child Defects Res A Clin Mol Teratol 2014;100:145-57. Fetal Neonatal Ed 2001;84:F194-6. 9. Majnemer A, Riley P, Shevell M, Birnbaum R, Greenstone H, Coates AL. 15. Patel RM, Kandefer S, Walsh MC, Bell EF, Carlo WA, Laptook AR, et al. Severe bronchopulmonary dysplasia increases risk for later neurological Causes and timing of death in extremely premature infants from 2000 and motor sequelae in preterm survivors. Dev Med Child Neurol through 2011. N Engl J Med 2015;372:331-40. 2000;42:53-60. 16. Fischer HS, Bührer C. Avoiding endotracheal ventilation to prevent 10. Chang YS, Ahn SY, Park WS, Committee on Program and Planning and bronchopulmonary dysplasia: a meta-analysis. Pediatrics 2013;132:e1351- Advisory Committee of Korean Neonatal Network. The establishment of 60. the Korean Neonatal Network (KNN). Neonatal Med 2013;20:169-78. 17. Freemantle N, Calvert M, Wood J, Eastaugh J, Grifﬁn C. Composite out- 11. Jobe AH, Bancalari E. Bronchopulmonary Dysplasia. Am J Respir Crit comes in randomized trials: greater precision but with greater uncer- Care Med 2001;163:1723-9. tainty? JAMA 2003;289:2554-9. 12. Papile LA, Burstein J, Burstein R, Kofﬂer H. Incidence and evolution of 18. Montori VM, Permanyer-Miralda G, Ferreira-González I, Busse JW, subependymal and intraventricular hemorrhage: a study of infants with Pacheco-Huergo V, Bryant D, et al. Validity of composite end points in birth weights less than 1,500 gm. J Pediatr 1978;92:529-34. clinical trials. BMJ 2005;330:594-6. Familial Granulocytopenia and Associated Immunoglobulin Abnormality: Report of 3 Cases in Young Brothers Lonsdale D, Deodhar SD, Mercer RD. J Pediatr 1967;71:790-801. ifty years ago, Lonsdale et al described 3 young brothers with “impotent neutrophil syndrome,” characterized F by both diminished numbers and dysfunction of neutrophils. These brothers also had abnormal B cells, as evi- denced by hypogammaglobulinemia, abnormal vaccine responses, and lymph nodes lacking germinal centers. All 3 boys succumbed to overwhelming infection. They were survived by 2 unaffected sisters, suggesting an X-linked mode of inheritance for their underlying immunodeﬁciency. The diagnosis in these brothers was most likely X-linked hyper immunoglobulin M (hyper-IgM) syndrome type 1, caused by mutations in CD40 Ligand (CD40L). Hyper-IgM syndrome is a heterogeneous group of disorders charac- terized by defective immunoglobulin class-switch recombination, the process by which the mu chain of IgM is re- placed with downstream constant regions to produce IgA, IgE, or IgG and poorly functioning, low-afﬁnity antibodies because of abnormal somatic hypermutation. Two-thirds of patients with hyper-IgM also have neutropenia and de- fective phagocytosis, although the mechanism remains unknown. Patients with suspected hyper-IgM syndrome should be evaluated using ﬂow cytometry of peripheral blood and molecular genetic testing. Because neither of these modalities was available 50 years ago, it is not surprising that it was difﬁcult to deﬁnitively diagnose these 3 boys, whose case is unsolved. Diagnosis of primary immunodeﬁciency diseases remains difﬁcult; however, recent efforts using targeted next-generation sequencing may permit rapid diag- 2,3 nosis of greater than 300 known primary immunodeﬁciency diseases Today, treatment for hyper-IgM includes intravenous immunoglobulin and prophylaxis against pneumocystis jirovecii with trimethoprim-sulfamethoxazole. Only hematopoietic stem cell transplant is curative, and early transplantation leads to better outcomes. Emily Heikamp,MD, PhD Titilope Fasipe,MD, PhD Lisa Forbes,MD Department of Pediatrics Baylor College of Medicine Houston, Texas References 1. Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, et al. Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM. Mol Pathol 2003;56:256-62. 2. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, et al. Rapid molecular diagnostics of severe primary immuno- deﬁciency determined by using targeted next-generation sequencing. J Allergy Clin Immunol 2016;138:1142-51. 3. Bousﬁha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, et al. The 2015 IUIS phenotype classiﬁcation for primary immunodeﬁciencies. J Clin Immunol 2015;35:727-38. 4. de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, et al. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol 2017;139:1282-92. Impact of Prolonged Mechanical Ventilation in Very Low Birth Weight Infants: Results From a National Cohort Study
The Journal of Pediatrics – Elsevier
Published: Mar 1, 2018
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