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

Electrical stimulation with non-implanted electrodes for overactive bladder in adults

Peer reviewedPublisher PD

An important problem in developing countries: maternal and neonatal vitamin B12 deficiency

Aim: A significant increase has been noted in the number of infants admitted to our hospital due to neurologic findings and diagnosed as vitamin B12 deficiency within the first 6 months of life. Therefore, the aim of the present study was to determine the presence of maternal and neonatal vitamin B12 deficiency in infants born in our hospital

Gelişmekte olan ülkelerde önemli bir sorun: annede ve yenidoğanda B12 vitamini eksikliği

Aim: A significant increase has been noted in the number of infants admitted to our hospital due to neurologic findings and diagnosed as vitamin B12 deficiency within the first 6 months of life. Therefore, the aim of the present study was to determine the presence of maternal and neonatal vitamin B12 deficiency in infants born in our hospital

Encephalopathy in type I hyperlipidemia

Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. In this paper we present an infant with massive hyperchylomicronemia and severe pancreatitis. Exchange transfusion for controlling hypertriglyceridemia and pancreatitis led to an increase in hyperviscosity which resulted in encephalopathy

Prenatal androgens and autistic, attention deficit hyperactivity disorder, and disruptive behavior disorders traits

Objective: Androgen exposure is hypothesized to play a role in the development of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and disruptive behavior disorders/DBDs (oppositional defiant disorder/ODD and conduct disorder/CD). The aim of this cross-sectional study was to investigate ASD, ADHD, and DBD (ODD and CD) traits in children and adolescents with congenital adrenal hyperplasia (CAH), a natural cause of prenatal androgen excess in females. Methods: Forty-five children and adolescents (27 girls, mean age 11.1 +/- 3; 18 boys, mean age 10.8 +/- 3.6) with CAH and their unaffected siblings (16 girls, mean age 11.4 +/- 3.9; 14 boys, mean age 12.6 +/- 4.2) were included in the study. Parents completed the Social Communication Questionnaire, to measure ASD symptoms; and the Turgay DSM-IV-Based Child and Adolescent Disruptive Behavioral Disorders Screening and Rating Scale to assess ADHD and DBD traits. Results: In this study, boys but not girls with CAH showed higher autistic traits. There was no significant difference between either girls or boys with CAH and their unaffected counterparts with respect to inattention or hyperactivity symptoms. Boys with CAH showed more ODD symptoms than the unaffected boys. There was a trend for boys to have more CD symptoms compared to unaffected boys. Conclusions: Our study does not support the hypothesis that prenatal androgen exposure is associated with ASD, ADHD or DBDs. Postnatal/circulating androgen levels, higher testosterone/cortisol ratio, lower basal cortisol or dysregulation in HPA axis might be related to higher autistic traits or increased DBDs symptoms found in boys with CAH. Further investigations with larger groups are needed to clarify these associations

Purification of alpha-galactosidase from pepino (Solanum muricatum) by three-phase partitioning

WOS: 000297444900018Three-phase partitioning (TPP) is a bioseparation technique used for the extraction, concentration and purification of biomolecules. The technique consists of simultaneous addition of a salt (generally ammonium sulfate) to the crude extract followed by the addition of an organic solvent (generally t-butanol). In the present study, alpha-galactosidase was purified from pepino (Solanum muricatum) fruit by TPP. The influence of various process parameters (ammonium sulfate saturation, crude extract to t-butanol ratio and pH) on alpha-galactosidase partitioning is investigated to get highest purity fold and yield. The results showed that, 50% (w/v) ammonium sulfate saturation with 1:1.5 crude extract to t-butanol ratio at pH 5.25 gave 6.2-fold purification with 127% activity recovery of alpha-galactosidase. Characterization and determination of biochemical properties of the partitioned alpha-galactosidase were also aimed. The sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis showed considerable purification and the molecular weight of the enzyme was nearly found to be as 38 kDa. Various parameters (temperature, pH and substrate concentration) affecting to the enzyme activity and stability were studied. The optimum temperature and pH of the partitioned alpha-galactosidase were found to be 50 degrees C and pH 5.5, respectively. The enzyme was very stable at the temperature ranged from 37 to 45 degrees C and also in a pH range of 4.5-7.0. The kinetic constants; K(m) and V(max) were determined to be 0.37 mM and 0.46 U, respectively. The results indicated that, TPP technique is very attractive process for purification of pepino alpha-galactosidase and the characteristic properties of the enzyme partitioned by TPP make the enzyme good candidates for its several industrial applications. (C) 2011 Elsevier B.V. All rights reserved