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Turner's Syndrome (turner's + syndrome)
Selected AbstractsDescending Aortic Dissection Post Coarctation Repair in a Patient with Turner's SyndromeJOURNAL OF CARDIAC SURGERY, Issue 2 2003B. Badmanaban F.R.C.S. A 45-year-old woman with Turner's syndrome had repair of coarctation by resection and interposition graft. Her postoperative course was uneventful. Chest X-ray two months postoperatively showed a hematoma in the proximal descending aorta, and a CT scan confirmed dissection distal to the coarctation repair, which was treated medically. Subsequent CT scanning one year later showed the hematoma resolving with no increase in the diameter of the dissected segment.(J Card Surg 2003;18:153-154) [source] Autoimmune diseases in women with Turner's SyndromeARTHRITIS & RHEUMATISM, Issue 3 2010Kristian T. Jørgensen Objective In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women with Turner's syndrome is characterized by diseases with a female or male predominance. Methods Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798 Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. Results The overall risk of autoimmune disease among women with Turner's syndrome was twice that among Danish women in general (SIR 2.1 [95% CI 1.6,2.7]). For autoimmune diseases with a female predominance, the SIR among women with Turner's syndrome was 1.7 (95% CI 1.2,2.4), whereas the SIR for autoimmune diseases with a male predominance among these women was 3.9 (95% CI 2.5,5.8). Associations were strongest for Hashimoto thyroiditis (SIR 14.6 [95% CI 6.7,27.1]), a strongly female-predominant condition, and type 1 diabetes mellitus (SIR 4.1 [95% CI 2.5,6.3]). Conclusion Women with Turner's syndrome are at excess risk of autoimmune diseases, notably autoimmune diseases characterized by male predominance. [source] Turner's syndrome, autoimmune thyroiditis, and Crohn's disease in the same patient: A combination emphasizing the role of X-chromosome in inflammatory bowel disease patientsINFLAMMATORY BOWEL DISEASES, Issue 7 2010John K. Triantafillidis Prof. No abstract is available for this article. [source] Descending Aortic Dissection Post Coarctation Repair in a Patient with Turner's SyndromeJOURNAL OF CARDIAC SURGERY, Issue 2 2003B. Badmanaban F.R.C.S. A 45-year-old woman with Turner's syndrome had repair of coarctation by resection and interposition graft. Her postoperative course was uneventful. Chest X-ray two months postoperatively showed a hematoma in the proximal descending aorta, and a CT scan confirmed dissection distal to the coarctation repair, which was treated medically. Subsequent CT scanning one year later showed the hematoma resolving with no increase in the diameter of the dissected segment.(J Card Surg 2003;18:153-154) [source] Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?PRENATAL DIAGNOSIS, Issue 2 2007Ageliki Gerovassili Abstract Objectives Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other variables and to clarify their diagnostic value. Methods DNA from pre-CVS maternal plasma was extracted from 264 controls, 72 trisomy 21, 24 trisomy 18, 12 trisomy 13, 16 Turner's syndrome and 8 triploidy first-trimester pregnancies and quantified using real-time PCR. ,-globin was used to determine total cfDNA levels and DYS14 and SRY assays to determine fetal cfDNA levels. Results Fetal cfDNA levels (DYS14) showed correlation with crown rump length (CRL) (p = 0.004), BMI (p = 0.01) and storage time (p = 0.007) while there was an inverse correlation of total cfDNA levels with nuchal translucency (NT) (p = 0.001). No significant difference was observed between the levels of fetal cfDNA in controls and aneuploidy cases. Conclusion Quantification of fetal and total cfDNA in maternal circulation showed inverse correlation between NT and total cfDNA levels. Our results also suggest that fetal cfDNA is not an ideal prognostic marker for chromosomal abnormalities in first-trimester pregnancies. Copyright © 2006 John Wiley & Sons, Ltd. [source] Autoimmune diseases in women with Turner's SyndromeARTHRITIS & RHEUMATISM, Issue 3 2010Kristian T. Jørgensen Objective In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women with Turner's syndrome is characterized by diseases with a female or male predominance. Methods Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798 Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. Results The overall risk of autoimmune disease among women with Turner's syndrome was twice that among Danish women in general (SIR 2.1 [95% CI 1.6,2.7]). For autoimmune diseases with a female predominance, the SIR among women with Turner's syndrome was 1.7 (95% CI 1.2,2.4), whereas the SIR for autoimmune diseases with a male predominance among these women was 3.9 (95% CI 2.5,5.8). Associations were strongest for Hashimoto thyroiditis (SIR 14.6 [95% CI 6.7,27.1]), a strongly female-predominant condition, and type 1 diabetes mellitus (SIR 4.1 [95% CI 2.5,6.3]). Conclusion Women with Turner's syndrome are at excess risk of autoimmune diseases, notably autoimmune diseases characterized by male predominance. [source] Liver dysfunction in Turner's syndrome: prevalence, natural history and effect of exogenous oestrogenCLINICAL ENDOCRINOLOGY, Issue 2 2008Olympia Koulouri Summary Objectives, Raised liver enzymes are a common feature of Turner's syndrome (TS), but the cause remains unclear. We studied the hepatic function in a large cohort of women with TS and tested the effect of increasing doses of hormone replacement therapy (HRT) on liver function tests (LFTs). Design and patients, LFTs were assessed in three studies. A cross-sectional review of liver function of 125 women (median age: 31 years), a longitudinal study of 30 women (mean follow-up period: 8 years) and a dose,response study of 14 women with TS and 11 controls with hypogonadism, who received oral 17-,-oestradiol (E2) 1, 2 and 4 mg daily in a cyclical formulation for 12 weeks each. Measurements, Clinical features, oestrogen use and metabolic parameters were compared to liver enzymes (,-glutamyl transferase (GGT), alanine aminotransferase (ALT) and alkaline phosphatase (ALP)), albumin and bilirubin. LFTs were also measured during each treatment interval of the dose,response study. Hepatic autoimmunity was sought in the cross-sectional study. Results, When compared to the control population, as opposed to reference ranges, 91% of women with TS demonstrated liver enzyme elevation, with a yearly incidence of 2·1%. LFTs correlated positively with cholesterol (P < 0·001), BMI (P = 0·004) and type of oestrogen therapy (P = 0·04). Increasing doses of HRT resulted in a significant decrease in GGT, ALT, bilirubin and albumin. No evidence of excessive hepatic autoimmunity was found. Conclusion, The prevalence of raised liver enzymes in TS may have been underestimated by the use of reference ranges rather than matched controls. Obesity and hyperlipidaemia are associated with raised LFTs, as well as the use of HRT compared to the oral contraceptive pill (OCP). Exogenous oestrogen both as OCP and HRT improves liver function. Liver dysfunction in TS is likely to be a form of hepatic steatosis and intervention trials are now indicated. [source] Improved final height in Turner's syndrome following growth-promoting treatment at a single centreACTA PAEDIATRICA, Issue 9 2003EJ Gault Aims: To examine the final height (FH) outcome of girls with Turner's syndrome (TS) treated at a single Scottish centre (Glasgow group), to compare it with an earlier national analysis (Scottish group) and to suggest reasons for any change. Methods: Retrospective growth and treatment data for 29 Glasgow patients were compared with those of 26 Scottish patients. Results: Age at GH start (mean ± SD) was 10.1 ± 2.6 vs 12.1 ± 1.7 y (p < 0.01) in the Glasgow versus Scottish groups, with overall duration of treatment 6.2 ± 2.4 vs 3.7 ± 1.1 y (p < 0.001) and years of GH treatment before pubertal induction 2.7 ± 2.8 vs 0.3 ± 0.8 y (p < 0.001), respectively. Pubertal induction was at a similar age: 12.7 ± 1.8 vs 12.8 ± 1.8 y (ns). FH was 151.1 ± 4.6 cm in the Glasgow group compared with 142.6 ± 5.6 cm in the Scottish group (p < 0.001), with FH -projected adult height (PAH) 5.7 ± 4.6 cm vs 0.6 ± 3.6 cm (p < 0.001), respectively. Univariate analysis of the Glasgow group's FH , PAH with a number of growth and treatment variables identified no statistically significant relationships. Conclusion: This group's improved FH and FH , PAH, relative to an earlier sample, are attributed to the introduction of GH treatment from a younger age and for longer, overall and before pubertal induction. In addition, the authors believe that compliance with treatment has been enhanced by this single centre's dedicated Turner clinic and the efforts of its established "growth team". These data demonstrate that a favourable FH can be achieved using a safe and financially viable dose of GH, while inducing puberty at a "normal" age. [source] | ||||||||||