{"entity": "journal", "iuid": "e3fa358d3e654e6eaeb9d3a47dd72a8a", "timestamp": "2026-08-22T06:51:35.180Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Front%20Pediatr.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Front%20Pediatr"}}, "title": "Front Pediatr", "issn": "2296-2360", "issn-l": null, "publications_count": 2, "publications": [{"entity": "publication", "iuid": "e74f3b5cb29545fba30ba22153f40124", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e74f3b5cb29545fba30ba22153f40124.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e74f3b5cb29545fba30ba22153f40124"}}, "title": "Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.", "authors": [{"family": "Guner Yilmaz", "given": "Bengisu", "initials": "B"}, {"family": "Akgun-Dogan", "given": "Ozlem", "initials": "O"}, {"family": "Ozdemir", "given": "Ozkan", "initials": "O"}, {"family": "Yuksel", "given": "Bayram", "initials": "B"}, {"family": "Hatirnaz Ng", "given": "Ozden", "initials": "O"}, {"family": "Bilguvar", "given": "Kaya", "initials": "K"}, {"family": "Ay", "given": "Beril", "initials": "B"}, {"family": "Ozkose", "given": "Gulsah Sebnem", "initials": "GS"}, {"family": "Aydin", "given": "Eylul", "initials": "E"}, {"family": "Yigit", "given": "Ayca", "initials": "A"}, {"family": "Bulut", "given": "Aybike", "initials": "A"}, {"family": "Esen", "given": "Fatma Nisa", "initials": "FN"}, {"family": "Beken", "given": "Serdar", "initials": "S"}, {"family": "Aktas", "given": "Selma", "initials": "S"}, {"family": "Demirel", "given": "Atalay", "initials": "A"}, {"family": "Arcagok", "given": "Baran Cengiz", "initials": "BC"}, {"family": "Kazanci", "given": "Ebru", "initials": "E"}, {"family": "Bingol", "given": "\u0130brahim", "initials": "\u0130"}, {"family": "Umur", "given": "Ozge", "initials": "O"}, {"family": "Sik", "given": "Guntulu", "initials": "G"}, {"family": "Isik", "given": "Ugur", "initials": "U"}, {"family": "Ersoy", "given": "Melike", "initials": "M"}, {"family": "Korkmaz", "given": "Ayse", "initials": "A"}, {"family": "Citak", "given": "Agop", "initials": "A"}, {"family": "Mardinoglu", "given": "Adil", "initials": "A"}, {"family": "Ozbek", "given": "Ugur", "initials": "U"}, {"family": "Alanay", "given": "Yasemin", "initials": "Y"}], "type": "journal article", "published": "2024-07-04", "journal": {"title": "Front Pediatr", "issn": "2296-2360", "volume": "12", "pages": "1412880", "issn-l": null}, "abstract": "Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting.\n\nTen infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%.\n\nThree patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses.\n\nThis study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology.", "doi": "10.3389/fped.2024.1412880", "pmid": "39026936", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11254770"}], "notes": [], "created": "2026-08-20T13:37:39.610Z", "modified": "2026-08-20T13:37:39.644Z"}, {"entity": "publication", "iuid": "0dda3471356b473aa41f53bc7ebe32cb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0dda3471356b473aa41f53bc7ebe32cb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0dda3471356b473aa41f53bc7ebe32cb"}}, "title": "The cerebrospinal fluid proteome of preterm infants predicts neurodevelopmental outcome.", "authors": [{"family": "Leifsdottir", "given": "Kristin", "initials": "K"}, {"family": "Jost", "given": "Kerstin", "initials": "K"}, {"family": "Siljehav", "given": "Veronica", "initials": "V"}, {"family": "Thelin", "given": "Eric P", "initials": "EP"}, {"family": "Lassar\u00e9n", "given": "Philipp", "initials": "P"}, {"family": "Nilsson", "given": "Peter", "initials": "P"}, {"family": "Haraldsson", "given": "\u00c1sgeir", "initials": "\u00c1"}, {"family": "Eksborg", "given": "Staffan", "initials": "S"}, {"family": "Herlenius", "given": "Eric", "initials": "E"}], "type": "journal article", "published": "2022-07-19", "journal": {"title": "Front Pediatr", "issn": "2296-2360", "volume": "10", "pages": "921444", "issn-l": null}, "abstract": "Survival rate increases for preterm infants, but long-term neurodevelopmental outcome predictors are lacking. Our primary aim was to determine whether a specific proteomic profile in cerebrospinal fluid (CSF) of preterm infants differs from that of term infants and to identify novel biomarkers of neurodevelopmental outcome in preterm infants.\n\nTwenty-seven preterm infants with median gestational age 27 w + 4 d and ten full-term infants were enrolled prospectively. Protein profiling of CSF were performed utilizing an antibody suspension bead array. The relative levels of 178 unique brain derived proteins and inflammatory mediators, selected from the Human Protein Atlas, were measured.\n\nThe CSF protein profile of preterm infants differed from that of term infants. Increased levels of brain specific proteins that are associated with neurodevelopment and neuroinflammatory pathways made up a distinct protein profile in the preterm infants. The most significant differences were seen in proteins involved in neurodevelopmental regulation and synaptic plasticity, as well as components of the innate immune system. Several proteins correlated with favorable outcome in preterm infants at 18-24 months corrected age. Among the proteins that provided strong predictors of outcome were vascular endothelial growth factor C, Neurocan core protein and seizure protein 6, all highly important in normal brain development.\n\nOur data suggest a vulnerability of the preterm brain to postnatal events and that alterations in protein levels may contribute to unfavorable neurodevelopmental outcome.", "doi": "10.3389/fped.2022.921444", "pmid": "35928685", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9343678"}], "notes": [], "created": "2026-08-20T13:37:37.435Z", "modified": "2026-08-20T13:37:37.509Z"}], "created": "2026-08-20T13:37:37.467Z", "modified": "2026-08-20T13:37:37.467Z"}