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

Smart Maintenance and Health Monitoring of Buildings and Infrastructure Using High-Resolution Laser Scanners

An integrated structural health monitoring system was proposed for the rapid assessment of damage on large structures such as high-rise buildings, industrial chimneys, long-span bridges, and similar facilities. The system used ground-based high-resolution IR (infrared) laser vibrometers to measure the dynamic response of structures. To utilize these devices as automated scanners in a fast and efficient way, a new targeting and control mechanism was developed. Different aspects of the proposed system, such as targeting precision and scanning efficiency, were discussed by presenting the results of laboratory experiments and outdoor vibration tests. In addition to the enhancements made in the measurement system, a new methodology was introduced to analyze the recorded vibration response. A novel data processing approach, based on a comparison of the mode shapes calculated on the healthy reference and damaged structures, made it possible to determine the location of the flaw. If available, a finite element model of the analyzed structure also enables the degree of the damage to be calculated very accurately. The reliability of the identification algorithm was demonstrated by conducting extensive numerical simulations and vibration tests on scale building models

Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty

WOS: 000423677900009PubMed ID: 29353264Background: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). Methods: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. Results: The cohort numbered 67. The diagnosis age was 12.4 +/- 8.6 months, peak GH stimulation test response (at diagnosis) as 1.0 +/- 1.4 ng/mL. The first and second years length gain was 15.0 +/- 4.3 and 10.4 +/- 3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n = 50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n = 17) (p = 0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n = 24) was significantly greater than those who started treatment between 12 and 36 months of age (n = 43) (p < 0.001). These differences were not seen in the second year. Delta Length/height standard deviation score (SDS), Delta body weight SDS, length/height SDS, weight SDS in MPHD without hypogonadism for the first year of the GH treatment were found as significantly better than MPHD with hypogonadism. Conclusions: Early onsets of GH treatment, good weight gain in the first year of the treatment and good weight gain-GH dose in the second year of the treatment are the factors that have the greatest effect on length gain in early onset GHD. The presence of the sex steroid hormones during minipubertal period influence growth pattern positively under GH treatment (closer to the normal percentage according to age and gender).Turkish Pediatric Endocrinology and Diabetes Society [022014]This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grant Number: 022014)

Clinical and hormonal profiles correlate with molecular characteristics in patients with 11β-hydroxylase deficiency.

Background: Given the rarity of 11 beta-hydroxylase deficiency (11 beta OHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11 beta OHD) and nonclassic 11 beta OHD (NC-11 beta OHD)