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

Small Interfering RNA against Transcription Factor STAT6 Leads to Increased Cholesterol Synthesis in Lung Cancer Cell Lines

STAT6 transcription factor has become a potential molecule for therapeutic intervention because it regulates broad range of cellular processes in a large variety of cell types. Although some target genes and interacting partners of STAT6 have been identified, its exact mechanism of action needs to be elucidated. In this study, we sought to further characterize the molecular interactions, networks, and functions of STAT6 by profiling the mRNA expression of STAT6 silenced human lung cells (NCI-H460) using microarrays. Our analysis revealed 273 differentially expressed genes after STAT6 silencing. Analysis of the gene expression data with Ingenuity Pathway Analysis (IPA) software revealed Gene expression, Cell death, Lipid metabolism as the functions associated with highest rated network. Cholesterol biosynthesis was among the most enriched pathways in IPA as well as in PANTHER analysis. These results have been validated by real-time PCR and cholesterol assay using scrambled siRNA as a negative control. Similar findings were also observed with human type II pulmonary alveolar epithelial cells, A549. In the present study we have, for the first time, shown the inverse relationship of STAT6 with the cholesterol biosynthesis in lung cancer cells. The present findings are potentially significant to advance the understanding and design of therapeutics for the pathological conditions where both STAT6 and cholesterol biosynthesis are implicated viz. asthma, atherosclerosis etc

Ambulatory blood pressure monitoring and renal functions in children with a solitary kidney

The aim of this study is to investigate the blood pressure (BP) profile, microalbuminuria, renal functions, and relations with remaining normal kidney size in children with unilateral functioning solitary kidney (UFSK). Sixty-six children with UFSK were equally divided into three groups: unilateral renal agenesis (URA), unilateral atrophic kidney (UAK), and unilateral nephrectomy (UNP). Twenty-two age-, weight-, and height-matched healthy children were considered as a control group. The serum creatinine level and first-morning urine microalbumin and creatinine concentrations were determined by the standard methods. Also, the BP profile was determined by ambulatory blood pressure monitoring (ABPM). We found that the serum creatinine level was higher and creatinine clearance was lower in each patient groups compared to those of the control group (p < 0.05). Compared with the controls, each group of patients had mean office, 24-h, daytime, and night-time systolic and diastolic BP values similar to those of the controls (p > 0.05). An inverse correlation was found between the renal size standard deviation scores (SDS) of normal kidneys and 24-h systolic and diastolic BP load SDS in all of the patients (p < 0.05; r = −0.372, r = −0.295, respectively). The observed relationship between renal size SDS and 24-h mean arterial pressure (MAP), systolic and diastolic BP load SDS suggests that children with UFSK should be evaluated by using ABPM for the risk of hypertension

Aldose Reductase Inhibition Prevents Metaplasia of Airway Epithelial Cells

BACKGROUND: Goblet cell metaplasia that causes mucus hypersecretion and obstruction in the airway lumen could be life threatening in asthma and chronic obstructive pulmonary disease patients. Inflammatory cytokines such as IL-13 mediate the transformation of airway ciliary epithelial cells to mucin-secreting goblet cells in acute as well as chronic airway inflammatory diseases. However, no effective and specific pharmacologic treatment is currently available. Here, we investigated the mechanisms by which aldose reductase (AR) regulates the mucus cell metaplasia in vitro and in vivo. METHODOLOGY/FINDINGS: Metaplasia in primary human small airway epithelial cells (SAEC) was induced by a Th2 cytokine, IL-13, without or with AR inhibitor, fidarestat. After 48 h of incubation with IL-13 a large number of SAEC were transformed into goblet cells as determined by periodic acid-schiff (PAS)-staining and immunohistochemistry using antibodies against Mucin5AC. Further, IL-13 significantly increased the expression of Mucin5AC at mRNA and protein levels. These changes were significantly prevented by treatment of the SAEC with AR inhibitor. AR inhibition also decreased IL-13-induced expression of Muc5AC, Muc5B, and SPDEF, and phosphorylation of JAK-1, ERK1/2 and STAT-6. In a mouse model of ragweed pollen extract (RWE)-induced allergic asthma treatment with fidarestat prevented the expression of IL-13, phosphorylation of STAT-6 and transformation of epithelial cells to goblet cells in the lung. Additionally, while the AR-null mice were resistant, wild-type mice showed goblet cell metaplasia after challenge with RWE. CONCLUSIONS: The results show that exposure of SAEC to IL-13 caused goblet cell metaplasia, which was significantly prevented by AR inhibition. Administration of fidarestat to mice prevented RWE-induced goblet cell metaplasia and AR null mice were largely resistant to allergen induced changes in the lung. Thus our results indicate that AR inhibitors such as fidarestat could be developed as therapeutic agents to prevent goblet cell metaplasia in asthma and related pathologies

fur⁻ mutation increases the survival time of Escherichia coli under photooxidative stress in aquatic environments

We investigated the survival of the wild type Escherichia coli (QC771) and fur− mutant strain (QC1732) under photooxidative stress in different water sources. The survival of fur− mutant and wild type E. coli was seen as a significant decrease in the visible light samples in the presence of methylene blue (MB). The fur−E. coli strain lived longer than the wild type E. coli strain on exposure to MB and visible light, which generates singlet oxygen, in both lake water (48-h) and pure water (16-h). It is interesting to note that the survival of both wild type and the fur− mutant strain was more protected at 24 °C than at other temperatures. The Fur protein does not have any relation to the entry of E. coli into the viable but nonculturable state (VBNC) under photooxidative stress. This is the first study which shows that fur− mutation increases the resistance of E. coli to photooxidative stress in aquatic environments, and the Fur protein does not have any relation to the entry of E. coli into the VBNC state

The role of RpoS, H-NS and AcP on the pH-dependent OmpC and OmpF porin expressions of Escherichia coli at different pH

It is generally accepted that OmpC and OmpF porin proteins have important roles to play in the survival of Escherichia coli under different environmental conditions. However, the influence of differentenvironmental conditions on porin expression is not as well known. This work was carried out to find out the effect of envZ, ompR, rpoS, pta and hns mutations on the pH-dependent ompC and ompF expression in E. coli in minimal medium at different pH. The expression of ompF was higher in cells grown in an alkaline pH, and the expression of ompC increased at the acidic pH value. There was lowlevel expression of ompC and ompF in envZ mutants. The expression of ompC was increased in the presence of NaCl at three tested pH values while that was reduced in the case of OmpF. The level of expression of ompF in the strain with the rpoS mutation was greatly increased at all pH values and in the presence and absence of NaCl. The expression of ompC in the pta mutant was greatly increased compared to the wild type E. coli at all pH values in the presence and absence of NaCl. There was no expression of ompC and ompF in the ompR mutants. Mutations in hns and pta had variable effects on the expression of ompC and ompF in the presence and absence of NaCl. Overall, this work shows that although OmpC and OmpF porin protein synthesis was affected according to pH, it was not a direct role of RpoS, HNS, EnvZ and Acp at pH-depending porin expression

Electroless Ni–B Coating of Pure Titanium Surface for Enhanced Tribocorrosion Performance in Artificial Saliva and Antibacterial Activity

In the present study, the surface of commercial pure (Grade 2) titanium was coated with electroless Ni–B. The surface morphology, microstructure and phase identification were analysed by X-Ray Diffraction (XRD) and Field Emission Gun Scanning Electron Microscope (FEG-SEM) equipped with Energy Dispersive X-ray Spectroscopy (EDS). The tribocorrosion performance in a laboratory simulated artificial saliva was investigated using a reciprocating ball-on-plate tribometer coupled to an electrochemical cell. The antibacterial property of the electroless Ni–B film coated on pure titanium was basically investigated. From this study, it may be concluded that this electroless Ni–B coating process cannot only improve the hardness and tribocorrosion performance of the pure titanium, but can also provide antimicrobial activity

Serinletilen Alman Alaca oğlaklarının Akdeniz iklim koşullarındaki fizyolojik ve biyokimyasal tepkileri

Bu çalışma, oğlaklarda sıcaklık stresi oluşumunu engellemek amacıyla duş ve fan gibi farklı fiziksel uygulamaların fizyolojik tepkiler (solunum sayısı, rektal sıcaklık, nabız sayısı, testis sıcaklığı ve kafa sıcaklığı) ve kandaki biyokimyasal değişikliklerin saptanması amacı ile yürütülmüştür. Altı aylık toplam 32 baş erkek oğlak 8’er baş olacak şekilde 4 eşit gruba ayrılmıştır. Deneme grupları şu şekilde oluşturulmuştur; Grup A (kontrol grubu, duş ve fan uygulaması yok), Grup B (1000-1100 ve 1400-1500 arasında duş uygulanmış), Grup C (1000-1800 arasında 1,5 m/s fan uygulanmış), Grup D (1000-1100 ve 1400-1500 arasında duşa ek olarak 1000-1800 arasında 1,5 m/s fan uygulanmış). Duş-fan uygulamasının birlikte kullanıldığı veya duş ya da fan uygulamalarının tek başına kullanıldığı oğlaklarda nabız sayısında artışa neden olmasına rağmen, duş ve fan uygulanan hayvanlarda rektal sıcaklık, solunum sayısı, testis sıcaklığı ve kafa sıcaklığı daha düşük bulunmuştur (P < 0,05). Fan ve duş uygulamaları T3 ve T4 salgısını önemli düzeyde azaltmıştır (P < 0,05). HCT değerleri üzerine zaman × fan × duş interaksiyon etkisinin olduğu tespit edilmiş (P < 0,05) fan × duş uygulamasının CHO değeri üzerine etkisi önemli bulunmuştur (P < 0,05). Elde edilen bulgular ışığında Akdeniz iklim koşulları açısından fan ile serinletmenin oğlaklardaki sıcaklık stresinin azaltılmasında son derece etkili olduğu ve önerilebileceği belirlenmiştir. Ancak, duş ile serinletmenin optimizasyonu için daha detaylı araştırılması gerekmektedir.This study was conducted to determine the effects of different physical modifications (sprinkler and fan) related to heat stress during summer on relevant blood biochemical measures and physiological responses, such as rectal temperature (RT), respiration rate (RR), heart rate (HR), testis temperature (TT), and head temperature (HT), in kids. In total, 32 male German Fawn x Hair kids at 6 months of age were divided into 4 groups of 8. Treatments were as follows: group A: (no sprinkler, no fan) (control); group B: sprinkler only (at 1000-1100 and 1400-1500), no fan; group C: fan (1.5 m/h between 1000-1800), no sprinkler; group D: sprinkler (at 1000-1100 and 1400-1500) and fan (1.5 m/h between 1000-1800). Sprinkler + fan treatment decreased RR, RT, TT, and HT (P < 0.05), whereas sprinkler + fan, sprinkler only, and fan only increased HR. Sprinkler + fan treatment significantly decreased T3 and T4 secretion (P < 0.05). Time x fan x sprinkler interaction significantly affected HCT (P < 0.05), whereas F x S interaction affected CHO (P < 0.05). According to blood chemistry and physiological responses, fan treatment was more effective than sprinkler and may be recommended as a means to alleviate heat stress in goats under Mediterranean climate conditions; however, further research is needed to optimize sprinkler cooling