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

Management of cryptorchidism: a survey of clinical practice in Italy

<p>Abstract</p> <p>Background</p> <p>An evidence-based Consensus on the treatment of undescended testis (UT) was recently published, recommending to perform orchidopexy between 6 and 12 months of age, or upon diagnosis and to avoid the use of hormones. In Italy, current practices on UT management are little known. Our aim was to describe the current management of UT in a cohort of Italian children in comparison with the Consensus guidelines. As management of retractile testis (RT) differs, RT cases were described separately.</p> <p>Methods</p> <p>Ours is a retrospective, multicenter descriptive study. An online questionnaire was filled in by 140 Italian Family Paediatricians (FP) from <it>Associazione Culturale Pediatri </it>(ACP), a national professional association of FP. The questionnaire requested information on all children with cryptorchidism born between 1/01/2004 and 1/01/2006. Data on 169 children were obtained. Analyses were descriptive.</p> <p>Results</p> <p>Overall 24% of children were diagnosed with RT, 76% with UT. Among the latter, cryptorchidism resolved spontaneously in 10% of cases at a mean age of 21.6 months. Overall 70% of UT cases underwent orchidopexy at a mean age of 22.8 months (SD 10.8, range 1.2-56.4), 13% of whom before 1 year. The intervention was performed by a paediatric surgeon in 90% of cases, with a success rate of 91%. Orchidopexy was the first line treatment in 82% of cases, while preceded by hormonal treatment in the remaining 18%. Hormonal treatment was used as first line therapy in 23% of UT cases with a reported success rate of 25%. Overall, 13 children did not undergo any intervention (mean age at last follow up 39.6 months). We analyzed the data from the 5 Italian Regions with the largest number of children enrolled and found a statistically significant regional difference in the use of hormonal therapy, and in the use of and age at orchidopexy.</p> <p>Conclusions</p> <p>Our study showed an important delay in orchidopexy. A quarter of children with cryptorchidism was treated with hormonal therapy. In line with the Consensus guidelines, surgery was carried out by a paediatric surgeon in the majority of cases, with a high success rate.</p

Effects of phototherapy on the growth plate in newborn rats

The aim of the present study was to evaluate the effect of phototherapy and oxidative stress on the growth plate of newborn rats. Forty newborn Sprague-Dawley rats were randomized into a phototherapy group and a control group. Twenty of the rats received phototherapy for 7 days. All zones of the growth plate were assessed with quantitative histomorphometric analysis. Individual zonal lengths were measured for the reserve zone (RZ), the proliferative zone (PZ), the hypertropbic zone (HZ), ossifying cartilage (OC), and total zone (TZ) of the growth plate. Levels of plasma malondialdehyde (MDA), an index of oxidative stress, were also evaluated. Compared with zonal lengths on day 7 after phototherapy between the two groups, the phototherapy group had significantly lower values than those of controls for RZ (5.13 +/- 0.36 vs. 6.4 +/- 0.85 mm X 10(-2); P < 0.001), PZ (20.6 +/- 3.0 vs. 29.25 +/- 1.68 mm X 10(-2); p < 0.001), HZ (15.4 +/- 1.44 vs. 20.87 +/- 1.12 mm X 10(-1); P < 0.001), OC (47.08 +/- 4.25 vs. 62.06 +/- 3.7 mm X 10(-2); p < 0.001), and TZ (88.15 +/- 6.56 vs. 118.48 +/- 4.50 mm X 10(-2); p < 0.001). Plasma MDA levels were correlated with the size of the PZ in the phototherapy group (r = -0.53, P = 0.01). In a multivariate regression model for all rats, being in the phototherapy group was the best predictor of the size of the TZ (beta = -0.94, P < 0.001), with the total variance explained being 88%. These results suggest that in newborn rats, receiving phototherapy is associated with early impairment of growth plate structure, and oxidative stress may be the main risk factor for growth plate injury

Gold stabilized by nanostructured ceria supports : nature of the active sites and catalytic performance

The interaction of gold atoms with CeO2 nanocrystals having rod and cube shapes has been examined by cyanide leaching, TEM, TPR, CO IR and X-ray absorption spectroscopy. After deposition–precipitation and calcination of gold, these surfaces contain gold nanoparticles in the range 2–6 nm. For the ceria nanorods, a substantial amount of gold is present as cations that replace Ce ions in the surface as follows from their first and second coordination shells of oxygen and cerium by EXAFS analysis. These cations are stable against cyanide leaching in contrast to gold nanoparticles. Upon reduction the isolated Au atoms form finely dispersed metal clusters with a high activity in CO oxidation, the WGS reaction and 1,3-butadiene hydrogenation. By analogy with the very low activity of reduced gold nanoparticles on ceria nanocubes exposing the {100} surface plane, it is inferred that the gold nanoparticles on the ceria nanorod surface also have a low activity in such reactions. Although the finely dispersed Au clusters are thermally stable up to quite high temperature in line with earlier findings (Y. Guan and E. J. M. Hensen, Phys Chem Chem Phys 11:9578, 2009), the presence of gold nanoparticles results in their more facile agglomeration, especially in the presence of water (e.g., WGS conditions). For liquid phase alcohol oxidation, metallic gold nanoparticles are the active sites. In the absence of a base, the O–H bond cleavage appears to be rate limiting, while this shifts to C–H bond activation after addition of NaOH. In the latter case, the gold nanoparticles on the surface of ceria nanocubes are much more active than those on the surface of nanorod ceria

Adiponectin and visfatin levels in extremely low birth weight infants; they are also at risk for insulin resistance

AIM: The aim of this study was to assess adiponectin, visfatin, HOMA-IR, glucose and triglyceride levels in term, preterm and extremely low birth weight (ELBW) babies. Each of these three groups was subdivided into two groups as small-for-gestational age (SGA), and appropriate-for-gestational age (AGA). 30 term, 30 preterm and 30 extremely low birth weight infants were included into the study