Browsing by Author "Candan, Sukru"

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Assessment of Cardiac Function in Absence of Congenital and Acquired Heart Disease in Patients With Down Syndrome
(Zhejiang Univ Sch Medicine, 2016) Balli, Sevket; Yucel, Ilker Kemal; Kibar, Ayse Esin; Ece, Ibrahim; Sen Dalkiran, Eylem; Candan, Sukru
Background: Extra genetic material in patients with Down syndrome (DS) may affect the function of any organ system. We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients. Methods: A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study. DS was diagnosed by a karyotype test. Patients with mosaic type were not included in this study. Systolic and diastolic functions were evaluated by echocardiography. Results: Pulsed waved Doppler transmitral early/late inflow velocity (E/A), tissue Doppler mitral annular early/late diastolic peak velocity (Ea/Aa), transtricuspid E/A and tricuspid valve annulus Ea/Aa, pulmonary venous Doppler systolic/diastolic (S/D) wave ratio were lower in patients with Down syndrome than in the control group (P=0.04, P=0.001, P<0.05, P<0.001, P<0.001, respectively). Mitral and tricuspid annular Ea were lower in patients with DS (P<0.001). The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls (P<0.01). They had significantly higher left ventricular mass, ejection fraction, the mitral annular plane systolic excursion values. However, the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography. Conclusion: These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckle tracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.
Case Report: Y Chromosome Microdeletion in an Infertile Patient With Mosaic Klinefelter Syndrome
(Kamla-raj Enterprises, 2015) Cetinkaya, Mehmet; Kaba, Mehmet; Cetin, Esin Sakalli; Candan, Sukru
Among genetic factors which contribute about 10-15 percent of male infertility, the most common genetic causes of male infertility are Klinefelter's Syndrome (KS) and Y chromosome microdeletions respectively. Most of the KS patients carry 47, XXY karyotype and almost 15 percent of them are mosaic with variable phenotype. These genetic abnormalities characterized by hypogonadism, azoospermia or oligospremia etc. A 41-year-old male presented with primary infertility with small hard testes and upper limit of FSH and LH. Total azoospemia was showed on semen analysis. 47,XXY/46,XY mosaicism was found in the karyotype analysis from the whole blood culture. Molecular investigation revealed a single deletion of AZFa region (M259 STS in DDX3Y locus). This case illustrates a rare deletion of AZFa region and is differ from previously reported in literature.