Turner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis. The identification of Y chromatin in some TS individuals has been associated with the development of gonadoblastoma. Therefore, it is important to exclude the presence of Y chromatin in TS individuals. In this study, it was planned to detect cases with mosaicism in terms of Y chromatin with the help of Y whole chromosome probes (WCP) from individuals with TS by fluorescence in situ hybridization (FISH) analysis. Forty-four patients with Turner syndrome, who were being followed up in the Genetics Unit, were contacted and invited for the study. Of the 44 invited patients, 28 responded to the invitation. In this study, it was planned to detect TS patients with mosaicism in terms of Y chromatin with the help of the Y whole chromosome probe. The majority of the cases (71.42%) included in the study carried pure X monosomy, which is the classical Turner syndrome karyotype. Other structural X chromosome aberrations, in isolated or mosaic forms, were less frequently represented. Y chromosome sequences were searched in 28 cases with Turner syndrome by the FISH method using Y whole chromosome probe. Y chromosome sequence was detected in one (3.5%) case of 28 cases. It is recommended that individuals with Turner syndrome be screened for Y chromatin. Detection of this will provide information and guidance to individuals with Turner syndrome, especially in terms of the risk of developing gonadoblastoma, with advanced clinical consultation. This study was conducted to emphasize the importance of this.
1 January 2013 in Journal of Clinical Medicine Research
Background: The Nanoduct® device has acceptable diagnostic accuracy, but there is not enough systematic data supporting its usage in the diagnosis of cystic fibrosis (CF). Methods: A retrospective review of patients with an indication for the sweat test was conducted. The conductivity test was repeated in patients who had values higher than 60 mmol/L, and they were referred for sweat chloride measurements. Associations between sweat conductivity measurements and age, gender, (pH, HCO3, pCO2, Na, K, Cl), family history, consanguinity, indications for the test and number of hospitalization were studied. Results: Among 2,664 patients, 16 children had sweat conductivity values higher than 80. The median age of patients diagnosed with CF was 4 months old. Age, pH, HCO3, Na, Cl, K and the sweat conductivity test were statistically related (P < 0.001). The ROC curve showed very high agreement between the 2nd conductivity test and the sweat test. Conclusions: Patients suspected to have CF can be screened using the Nanoduct® conductivity device in non-qualified centers. doi: http://dx.doi.org/10.4021/jocmr1191w
1 January 2011 in The Eurasian Journal of Medicine
Present-day mothers have an increased desire to breastfeed, but this desire has increased in parallel with the increased use of epidural analgesia during labor. Epidural anesthesia requires a high level of technical proficiency to avoid serious complications and should always be performed by a trained anesthetist using a strict aseptic technique to reduce the risk of infection. There is currently no consensus regarding the relationship between breastfeeding and epidural analgesia during labor. The purpose of this review was to evaluate the effect of epidural analgesia on breastfeeding.
21 March 2012 in Indian Journal of Hematology and Blood Transfusion