Browsing by Author "Unal E."

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    Systemic comorbidities associated with rosacea: a multicentric retrospective observational study
    (Blackwell Publishing Ltd, 2019) Aksoy B.; Ekiz Ö.; Unal E.; Ozaydin Yavuz G.; Gonul M.; Kulcu Cakmak S.; Polat M.; Bilgic Ö.; Baykal Selcuk L.; Unal I.; Karadag A.S.; Kilic A.; Balta I.; Kutlu Ö.; Uzuncakmak T.K.; Gunduz K.
    Background: Once considered a disorder limited to the skin, rosacea is now known to be associated with systemic disorders. The aim of this study was to determine what systemic comorbidities accompany rosacea and to determine the relationship between the type, severity, and duration of rosacea, and the presence of and type of systemic comorbidities. Methods: This retrospective multicenter study was conducted by the Turkish Society of Dermatology Acne Study Group. Thirteen dermatology clinics throughout Turkey participated in the study. A structured physician-administered questionnaire was used to collect patient demographics, clinical findings, and lifestyle data. The principal rosacea subtype, physician global assessment of severity, and duration of rosacea were recorded. Physicians recorded each participant's medical history, including current and past comorbidities, duration of any such comorbidity, and the use of medications to treat any comorbidities. Results: The study included 1,195 rosacea patients and 621 controls without rosacea aged 18–85 years. As compared to the controls, more of the rosacea patients had respiratory tract, gastrointestinal system, and metabolic and hepatobiliary system disorders in a rosacea's severity- and duration-dependent manner. Conclusion: Clinicians must be aware of the potential for systemic comorbidities in rosacea patients, which becomes more likely as disease duration and severity increase. © 2018 The International Society of Dermatology
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    (John Wiley and Sons Inc, 2024) Isik E.; Aydinok Y.; Albayrak C.; Durmus B.; Karakas Z.; Orhan M.F.; Sarper N.; Aydın S.; Unal S.; Oymak Y.; Karadas N.; Turedi A.; Albayrak D.; Tayfun F.; Tugcu D.; Karaman S.; Tobu M.; Unal E.; Ozcan A.; Unal S.; Aksu T.; Unuvar A.; Bilici M.; Azik F.; Ay Y.; Gelen S.A.; Zengin E.; Albudak E.; Eker I.; Karakaya T.; Cogulu O.; Ozkinay F.; Atik T.
    Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.