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      • KCI등재

        Radiation Exposure to Premature Infants in a Neonatal Intensive Care Unit in Turkey

        Turan Olgar,Esra Onal,Dogan Bor,Nurullah Okumus,Yildiz Atalay,Canan Turkyilmaz,Ebru Ergenekon,Esin Koc 대한영상의학회 2008 Korean Journal of Radiology Vol.9 No.5

        Objective: The aim of this work was to determine the radiation dose received by infants from radiographic exposure and the contribution from scatter radiation due to radiographic exposure of other infants in the same room. Materials and Methods: We retrospectively evaluated the entrance skin doses (ESDs) and effective doses of 23 infants with a gestational age as low as 28 weeks. ESDs were determined from tube output measurements (ESDTO) (n = 23) and from the use of thermoluminescent dosimetry (ESDTLD) (n = 16). Scattered radiation was evaluated using a 5 cm Perspex phantom. Effective doses were estimated from ESDTO by Monte Carlo computed software and radiation risks were estimated from the effective dose. ESDTO and ESDTLD were correlated using linear regression analysis. Results: The mean ESDTO for the chest and abdomen were 67 μGy and 65 μGy per procedure, respectively. The mean ESDTLD per radiograph was 70 μGy. The measured scattered radiation range at a 2 m distance from the neonatal intensive care unit (NICU) was (11-17 μGy) per radiograph. Mean effective doses were 16 and 27 μSv per procedure for the chest and abdomen, respectively. ESDTLD was well correlated with ESDTO obtained from the total chest and abdomen radiographs for each infant (R2 = 0.86). The radiation risks for childhood cancer estimated from the effective dose were 0.4 × 10-6 to 2 × 10-6 and 0.6 × 10-6 to 2.9 × 10-6 for chest and abdomen radiographs, respectively. Conclusion: The results of our study show that neonates received acceptable doses from common radiological examinations. Although the contribution of scatter radiation to the neonatal dose is low, considering the sensitivity of the neonates to radiation, further protective action was performed by increasing the distance of the infants from each other. Objective: The aim of this work was to determine the radiation dose received by infants from radiographic exposure and the contribution from scatter radiation due to radiographic exposure of other infants in the same room. Materials and Methods: We retrospectively evaluated the entrance skin doses (ESDs) and effective doses of 23 infants with a gestational age as low as 28 weeks. ESDs were determined from tube output measurements (ESDTO) (n = 23) and from the use of thermoluminescent dosimetry (ESDTLD) (n = 16). Scattered radiation was evaluated using a 5 cm Perspex phantom. Effective doses were estimated from ESDTO by Monte Carlo computed software and radiation risks were estimated from the effective dose. ESDTO and ESDTLD were correlated using linear regression analysis. Results: The mean ESDTO for the chest and abdomen were 67 μGy and 65 μGy per procedure, respectively. The mean ESDTLD per radiograph was 70 μGy. The measured scattered radiation range at a 2 m distance from the neonatal intensive care unit (NICU) was (11-17 μGy) per radiograph. Mean effective doses were 16 and 27 μSv per procedure for the chest and abdomen, respectively. ESDTLD was well correlated with ESDTO obtained from the total chest and abdomen radiographs for each infant (R2 = 0.86). The radiation risks for childhood cancer estimated from the effective dose were 0.4 × 10-6 to 2 × 10-6 and 0.6 × 10-6 to 2.9 × 10-6 for chest and abdomen radiographs, respectively. Conclusion: The results of our study show that neonates received acceptable doses from common radiological examinations. Although the contribution of scatter radiation to the neonatal dose is low, considering the sensitivity of the neonates to radiation, further protective action was performed by increasing the distance of the infants from each other.

      • SCIESCOPUSKCI등재

        Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

        ( Elif Keleş Gülnerman ),( Nurcan Hanedan ),( Merve Akillioglu ),( Gülsüm Kayhan ),( Esra Adişen ),( Özlem Erdem ),( İbrahim Murat Hirfanoğlu ),( Ebru Ergenekon ),( Eray Esra Önal ),( Canan Türkyilmaz 대한피부과학회 2023 Annals of Dermatology Vol.35 No.7

        Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

      • KCI등재

        Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

        Elif Keleş Gülnerman,Nurcan Hanedan,Merve Akillioglu,Gülsüm Kayhan,Esra Adişen,Özlem Erdem,İbrahim Murat Hirfanoğlu,Ebru Ergenekon,Eray Esra Önal,Canan Türkyilmaz,Esin Koç 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-

        Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as col- lodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome se- quencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozy- gous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

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