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AKALIN, FİGEN

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AKALIN

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FİGEN

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2012 - 201912020 - 20232
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Subject: Clinical Medicine (MED) ×

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    Chronic granulomatous disease: is it always associated with infections?
    (2012-01-01) BARIŞ, SAFA; AKALIN, FİGEN; BARIŞ S., Cagan H. H. , KIYKIM A., AKALIN F., Barlan I. B.
    Chronic granulomatous disease (CGD) is a rare disease of the phagocytic system characterized by mutation in nicotinamide adenine dinucleotide phosphate oxidase enzyme system. The heredity of disease is heterogeneous and X-linked genotype accounts for the most common type (65-70%). In patients with CGD reduction of reactive oxygen intermediates in phagocytes have result in susceptibility to catalase positive bacterial and fungal infections and abscess formation. Pericardial effusion and CGD coexistence is very rare condition and may occur during invasive fungal infections or secondary to enhanced inflammation. Twenty-month-old boy presented with fever and palpitation. On physical examination tachycardia and pericardial effusion was revealed (width: 11 mm) and his history was notable for perianal abscess in newborn period. Therefore, CGD was included in the differential diagnosis which was confirmed by nitroblue tetrazolium and dihidrorhodamin test. Despite negativity of microbiological culture for bacterial and fungal microorganisms the patient was placed on broad-spectrum antibacterial, antifungal and anti-inflammatory treatment. His condition improved without any complication. In this report, we emphasize that in patient with CGD pericardial effusion may be occurred secondary to increased inflammation without any microbial causes and can be resolved during clinical follow-up.
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    Evaluation of autonomic nervous system functions by using tilt table test and heart rate variability in epileptic children
    (2023-01-01) AKALIN, FİGEN; Redjepov A., Usta S. A. L. T. U. N. Y. U. V. A., Yildirim Y., AKALIN F.
    Objective: The value of head-up tilt test (HUTT) for differential diagnosis of epilepsy and the autonomic nervous system functions in epileptic children using heart rate variability (HRV) are studied. Patients and Methods: The study group consisted of 16 children with idiopatic/criptogenic epilepsy and 12 controls. Heart rate, PR interval, corrected QT (QTc) interval, QT and QTc dispersion were calculated using 12-lead electrocardiogram (ECG), HRV analysis was performed using the Holter recordings obtained both during HUTT and throughout the day. Time domain parameters, standard deviation of all RR intervals (SDNN), the standard deviation of mean NN intervals in five-minutes recording (SDANN), mean standard deviation of NN intervals in five-minutes recordings (SDNNi), root mean square of successive differences (RMSSD), count divided by the total number of all NN intervals (pNN50) and frequency domain parameters low frequency (LF), high frequency (HF), low-frequency/high-frequency ratio (LF/HF) were calculated in both and compared between the two groups.Results: Head-up tilt test was positive in 4 epileptic children (25%), none of controls were positive. The heart rate of the patients were higher than the controls (p=0.015). LF/HF ratio in 24-hour Holter recordings, were significantly lower (1.13 +/- 0.6, 1.83 +/- 0.7 respectively, p=0.002); the SDANN during HUTT (28.7 +/- 20.2, 18.2 +/- 19.9 respectively, p=0.024) were significantly higher in the patients than the controls.Conclusion: Head-up tilt test positivity is frequent in epileptic children, and cannot be used in differential diagnosis. HRV calculated both from 24 hour Holter recordings and Holter recordings under orthostatic stress were impaired in favour of parasympathetic system in epileptic children.
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    Konjenital kalp hastalığının Nkx2-5 gen varyantları ile ilişkisi
    (2022-11-13) GEÇKİNLİ, BİLGEN BİLGE; AKALIN, FİGEN; ARMAN, AHMET; Geçkinli B. B., Demir Ş., Girgin Özgümüş G., Türkyılmaz A., Akalın F., Arman A.
    Konjenital kalp hastalığı (KKH), doğumsal anomalilerin en sık görülen şeklidir. Yenidoğanda yaklaşık %1 sıklıktadır ve doğumsal anomaliler içinde çocuk ölümlerinin en sık sebebidir. KKH etyolojisi çoğu vakada tam belirlenememiştir. Embriyogenezde anormal kalp gelişimindeki biyolojik süreç heterojen ve komplekstir, hem çevresel ve hem de genetik risk faktörlerini içerdiği düşünülmektedir. Bu çalışmada KKHda moleküler etiyolojiyi aydınlatmak için NKX2- 5 genindeki varyantların DNA dizi analizi ile saptanması hedeflenmiştir. Çalışmamızda KKH tanısı alan 80 hasta ve 50 kontrol grubu incelenmiştir. Kromozom anomalisi, Digeorge sendromu ve multipl konjenital anomalileri olan hastalar dahil edilmemiştir. Hastalarda ventriküler septal defekt (VSD) %23, atrial septal defekt (ASD) %20, Fallot tetralojisi (TOF) %11, atrioventriküler septal defekt, pulmoner atrezi ve aort quarktasyonu %10 oranında mevcuttu. Sırasıyla ASD ve patent foramen ovale saptanan hastalarda missense tanımlı heterozigot p.C270Y ve p.R161P varyantları saptandı. p.C270Y olası benign, VUS (Variant of unknown significance) ve p.R161P KKH’nın eşlik edebileceği konjenital hipotiroidi ile ilişkili patojenik varyant olarak tanımlıdır. Segregasyon analizi için yapılan ebeveyn taramasında taşıyıcılık saptanmıştır. Türk toplumunda KKH patogenezinde varyantların saptanması, dünya çapında bu zamana kadar tespit edilen varyantlar ile kıyaslanması ile etnik kökene göre varyant farklılığının etkisi belirlenebilecektir. Böylelikle KKH tedavisine yönelik çalışmaların ilerlemesine katkı sağlanarak morbidite ve mortalite azalacaktır. Bu çalışma Marmara Üniversitesi, Bilimsel Araştırma Projeleri Birimi tarafından desteklenmiştir. Proje Kodu: SAG-B -070317- 0085 Anahtar Kelimeler: Konjenital kalp hastalığı, NKX2-5 geni, kardiyak transkripsiyon faktörü