Turner syndrome and associated problems in turkish children: A multicenter study

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 stenosi) 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 lifespan. © Journal of Clinical Research in Pediatric Endocrinology

The effects of planting-date and photoperiod on the growth and flowering of gypsophila paniculata L. "Perfecta" [Gypsophila paniculata L. "Perfecta"nin büyüme ve çiçeklenmesi üzerine dikim zamani ve gun uzunlugunun etkileri]

This study was carried out to determine the effects of 8 different planting-dates (22 September, 22 October. 22 November. December 22, January 22, February 22, March 22 and April 22) and 4 photoperiods (natural. 14, 15 and 16 hrs) on the growth and flowering of Gypsophila paniculata L. 'Perfecta' under controlled glasshouse conditions at the Alata Horticultural Research Institute (Erdemli. İçel-TURKEY). The times from planting to harvest were longer in autumn and in early winter plantings than in winter and in spring plantings under a 16-hr photoperiod. Suitable planting-dates were, seasonally, September 22 and October 22 in autumn, February 22 in winter and March 22 in spring. According to all criteria used in the study, the best results were obtained from the plants grown under 16- and 15-hr photoperiods, respectively. A 14-hr photoperiod was not conducive to obtaining desirable yield and flowering quality from G. paniculata L. Perfecta' plants during winter and early spring. The results concerning the time from planting to harvest also indicated that the flowering of the plants grown under the natural short photoperiod depended upon the beginning of the natural long-days. For that reason, there were no significant differences in the flowering dates of plants grown under a natural short photoperiod on different dates

Ácido giberélico e dia curto interrompido em crisântemo de corte (Dendranthema grandiflora, Tzvelev., "Gompier Chá") Gibberellic acid and short day interrupted in cut chrysanthemum (Dendranthema grandiflora, Tzvelev., 'Gompier Chá')

Algumas cultivares de crisântemo, como a "Gompier Chá", apresentam menor crescimento quando cultivadas no período de inverno. A utilização do ácido giberélico (GA3) e o manejo do fotoperíodo com dia curto interrompido podem ser alternativas para estimular o crescimentodas plantas. Assim, foi realizado um experimento com objetivo de avaliar a resposta do GA3 e do dia curto (DC) interrompido por dias longos (DL) na qualidade de hastes de crisântemo de corte "Gompier Chá", cultivado no inverno no Rio Grande do Sul. O experimento foi conduzido na Universidade Federal de Santa Maria, no período de maio a agosto de 2001. Os tratamentos foram diferentes concentrações de ácido giberélico (50, 100, 200, 300, 500 e 500mg L-1) aplicadas seis, três, duas, duas, uma e duas vezes, respectivamente, e o uso de dia curto interrompido (32DL+9DC+12DL+DC até a colheita). Os tratamentos que proporcionaram a formação de hastes de melhor qualidade foram as dosagens de 100mg L-1 aplicado três vezes e 200mg L-1 aplicado duas vezes. O esquema de dia curto interrompido usado foi ineficiente para a qualidade da cultivar "Gompier Chá", já o uso de ácido giberélico possibilitou melhoria no comprimento dos pedúnculos e na altura das plantas em cultivo de inverno no Rio Grande do Sul.<br>Some chrysanthemum"s cultivars, as the 'Gompier Chá', have problems of small growth during winter crop. The spraying whit gibberellic acid (GA3) and the control photoperiod with interrupted short day can be options for to stimulate growth. Thus, an experiment was carried out with the objective of evaluating the stems quality of cut chrysanthemum 'Gompier Chá' response of GA3 and short day (DC) interrupted by long day (DL), during winter time in Rio Grande do Sul. The experiment was conducted at the Universidade Federal de Santa Maria, in 2001, from May to August. The treatments consisted of different gibberellic acid concentration (50, 100, 200, 300, 500 e 500mg L-1) sprayed six, three, two, two and one times, respectively, and short day interrupted (32DL+9DC+12DL+DC until the harvest). The best stem quality was obtained whit GA3 dosages: 100mg L-1 sprayed three times and 200mg L-1 sprayed two times. The short day interrupted used was inefficient to the 'Gompier Chá' quality, while the spraying with gibberellic acid improved the length of floral stalks and the plant height during winter time in Rio Grande do Sul

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1±4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1±1.7, -1.4±1.5, and 0.4±1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc