Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Decreased Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 2 Activity in a Rat Model of Absence Epilepsy and the Effect of ZD7288, an Ih Inhibitor, on the Spike-and-Wave Discharges

Introduction: Hyperpolarization-activated cyclic nucleotide-gated (HCN) channel currents of Ih and absence epilepsy seizures are associated, but studies reveal differential results. Objective: In our study, we aimed to investigate the role of the HCN channels on the expression of spike-and-wave discharges (SWDs) using the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model. Methods: HCN isoform levels from isolated brains of both naive nonepileptic Wistar and GAERS groups were evaluated by enzyme-linked immunosorbent assay. ZD7288, an Ih inhibitor as well as an HCN channel antagonist, was administered intracerebroventricularly to the adult GAERS groups, and to evaluate their SWD activities, electroencephalography was recorded. The effect of ZD7288 on the cumulative total duration and number of SWDs and the mean duration of each SWD complex was evaluated. Results: The HCN2 levels in the cortex and hippocampus of the GAERS group were lower compared to the naive nonepileptic Wistar group (p < 0.05). ZD7288 increased the number of SWDs at the 20th and 120th min with the highest administered dose of 7 mu g (p < 0.05). Conclusion: The Ih inhibitor ZD7288 increased the number of SWDs in a genetic absence epilepsy rat model, although this increase may not be significant due to the inconsistent time-dependent effects. In GAERS, the cortical and hippocampal HCN2 channel levels were significantly lower compared to the control group. Further studies are needed with higher doses of ZD7288 to determine if the effects will increase drastically

The Tool Coverage of Software Process Improvement Frameworks for Small and Medium Sized Enterprises

Software Process Improvement (SPI) awareness is increasing among Small and Medium Sized Enterprises (SMEs). Conventional SPI frameworks are not appealing for SMEs since they are complex and costly. There are a number of frameworks, which address the problems of SMEs for SPI. This paper presents a comparative study of the most frequently referenced SPI frameworks established for SMEs from a SPI Tool coverage perspective

The genus Chrysallida Carpenter, 1856 on the Turkish coasts

WOS: 000298512300005The examination of benthic material collected from different depths and habitats along the Turkish Levantine, Aegean, and Black Sea coasts between the years 1996 and 2010 revealed 19 species of Chrysallida Carpenter, 1856. Among them, Chrysallida palazzii Micali, 1984 is new to the Levantine Sea and Turkish mollusc fauna. C. terebellum (Philippi, 1844) is new to the Turkish Levantine, Aegean and Black Sea coasts, C. dollfusi (Kobelt, 1903) is new to the Turkish Levantine coast, 7 species [C. decussata (Montagu, 1803), C. flexuosa (Monterosato, 1874), C. incerta (Milaschewitsch, 1916), C. indistincta (Montagu, 1808), C. intermixta (Monterosato, 1884), C. jeffreysiana (Monterosato, 1874), and C. suturalis (Philippi, 1844)] are new reports for the Turkish Aegean coast, and C. fenestrata (Jeffreys, 1848) is new for the Turkish coast of the Black Sea. Two species [C. maiae (Hornung & Mermod, 1924) and C. micronana Ozturk & Aartsen, 2006] are alien species that entered the Mediterranean in last three decades. The identified species, apart from C. obtusa (Brown, 1827) and C. flexuosa, were found to be distributed at depth ranges from 0 to 100 m. The last two species were from deeper waters. C. obtusa was found to have a wide depth range from 5 m to 875 m, whereas C. flexuosa was significant as the deepest species, found at 875 m. Some ecological characteristics and taxonomic remarks, with distribution features of the identified species along the Turkish coasts, are also provided.TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [104Y065]; EBILTEM (Ege University)Ege University [2006/BIL/017]We are much indebted to J. J. VAN AARTSEN (The Netherlands), P. MICALI and I. NOFRONI (Italy) for confirming the identification of some specimens and for the providing literature: to VAN AARTSEN also for information on the localities of C. pirinthella and C. stefanisi; and to two anonymous referees for their constructive comments on the manuscript. This work has been partially supported by TUBITAK (Project Number 104Y065) and EBILTEM (Ege University) (Project Number: 2006/BIL/017)

Atipamezole, a specific alpha(2A) antagonist, suppresses spike-and-wave discharges and alters Ca2+/calmodulin-dependent protein kinase II in the thalamus of genetic absence epilepsy rats

Objective The role of alpha(2A) adrenergic receptors (alpha(2A)ARs) in absence epilepsy is not well characterized. Therefore, we investigated the outcomes of the specific antagonism of alpha(2A)ARs on the spike-and-wave discharges (SWDs) in genetic absence epilepsy rats from Strasbourg (GAERSs), together with its influence on the behavior and second messenger systems, which may point to the mechanisms to which a possible SWD modulation can be related. Methods Atipamezole, an alpha(2A)AR antagonist, was administered intracerebroventricularly to the adult GAERSs, and electroencephalography (EEG) was conducted. The cumulative duration and number of SWDs, and the mean duration of each SWD complex were counted. The relative power of the EEG frequency bands and behavioral activity after the acute application of two doses (12 and 31 mu g/5 mu L) of atipamezole were evaluated. The levels of cyclic adenosine monophosphate and calcium/calmodulin-dependent kinase II (CaMKII) were measured in the cortex, thalamus, and hippocampus of naive Wistar rats and GAERSs, administered with artificial cerebrospinal fluid (aCSF) as a vehicle, or either acute or chronic atipamezole (12 mu g), the latter being administered for 5 consecutive days. Results Atipamezole significantly suppressed SWDs dose-dependently, without affecting the relative power values of EEG frequency spectrum. The stereotypic activity was significantly lower in both naive Wistar rats and GAERSs receiving the highest dose (31 mu g) of atipamezole compared to GAERSs receiving aCSF. In GAERSs, CaMKII levels were found to be higher in the thalamus after the acute and chronic application of SWD-suppressing doses of atipamezole (12 and 31 mu g) compared to aCSF. Significance This study emphasizes the alpha(2)AR-related modulation of absence epilepsy and particularly the significance of alpha(2)AR antagonism in suppressing SWDs. Atipamezole's SWD-suppressive actions may be through CaMKII-mediated second messenger systems in the thalamus