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Rapid genome sequencing for critically ill infants : an inaugural pilot study from Turkey

Guner Yilmaz, Bengisu (författare)
Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Akgun-Dogan, Ozlem (författare)
Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Transitional Medicine, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Ozdemir, Ozkan (författare)
Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Division of Medical Biology, Department of Basic Sciences, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
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Yuksel, Bayram (författare)
Genetic Diagnosis Center, SZA OMICS, Istanbul, Turkey
Hatirnaz Ng, Ozden (författare)
Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Division of Medical Biology, Department of Basic Sciences, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Bilguvar, Kaya (författare)
Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Ay, Beril (författare)
School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Ozkose, Gulsah Sebnem (författare)
Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Aydin, Eylul (författare)
Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Yigit, Ayca (författare)
Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Bulut, Aybike (författare)
Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Esen, Fatma Nisa (författare)
Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey
Beken, Serdar (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Aktas, Selma (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Demirel, Atalay (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Arcagok, Baran Cengiz (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Kazanci, Ebru (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Bingol, İbrahim (författare)
Division of Intensive Care, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Umur, Ozge (författare)
Division of Intensive Care, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Sik, Guntulu (författare)
Division of Intensive Care, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Isik, Ugur (författare)
Division of Neurology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Ersoy, Melike (författare)
Division of Pediatric Metabolism, Department of Pediatrics, University of Health Sciences, Bakırkoy Dr. Sadi Konuk Training and Research, Istanbul, Turkey
Korkmaz, Ayse (författare)
Division of Neonatology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Citak, Agop (författare)
Division of Intensive Care, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Mardinoglu, Adil (författare)
KTH,Science for Life Laboratory, SciLifeLab,Systembiologi,Genetic Diagnosis Center, SZA OMICS, Istanbul, Turkey; Faculty of Dentistry, Oral & Craniofacial Sciences, Centre for Host-Microbiome Interactions, King's College London, London, United Kingdom
Ozbek, Ugur (författare)
Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Alanay, Yasemin (författare)
Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Genome Studies, Health Sciences Institute, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
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 (creator_code:org_t)
Frontiers Media SA, 2024
2024
Engelska.
Ingår i: Frontiers in Pediatrics. - : Frontiers Media SA. - 2296-2360. ; 12
Relaterad länk:
https://doi.org/10.3...
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https://urn.kb.se/re...
https://doi.org/10.3...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Introduction: 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. Methods: Ten 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%. Results: Three patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses. Discussion: This 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)

Nyckelord

critically ill patient
neonatal intensive care unit
pediatric intensive care unit
rapid genome sequencing
trio sequencing

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