J Heart Lung Transplant 2011;30:1294-8 (C) 2011 International Society for Heart and Lung Transplantation. All rights reserved.”
“Aim: The prevalence of Turner syndrome (TS) at birth has been HM781-36B estimated as approximately 1 in 2500 live female births. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported.
Methods: We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence.
Results: Recurrence of TS was observed in 1.4% of our case series, which represents
a 35-fold increased probability of having a second child with TS compared to no recurrence.
Conclusion: This observation suggests that a risk of recurrence is possible, even though it is generally assumed that the likelihood of recurrent pregnancies with TS is similar to that in the general population. A wider study would be useful to confirm these data to improve genetic counseling for families with a daughter with TS.”
“Serum proteins are routinely used to diagnose diseases, but are hard to find due to low sensitivity in screening the serum proteome.
Public repositories of microarray data, such as the Gene Expression Omnibus (GEO), contain RNA expression profiles for more than 16,000 biological conditions, covering more than 30% of United States mortality. We hypothesized that genes coding for serum-and urine-detectable proteins, and showing differential expression of RNA in disease-damaged tissues would make ideal diagnostic Selumetinib solubility dmso protein biomarkers for those diseases. We showed that predicted protein biomarkers are significantly enriched for known diagnostic protein biomarkers in 22 diseases, with enrichment significantly higher in diseases for which at least three
datasets are available. We then used this strategy to search for new biomarkers indicating acute rejection (AR) across different types of transplanted solid organs. We integrated three biopsy-based microarray studies of AR from pediatric renal, adult renal and adult cardiac transplantation and identified 45 genes upregulated in all three. From this set, we chose 10 proteins for serum ELISA assays in 39 renal transplant patients, and discovered three that were significantly higher in AR. Interestingly, all three proteins were also significantly higher during AR in the Screening Library mw 63 cardiac transplant recipients studied. Our best marker, serum PECAM1, identified renal AR with 89% sensitivity and 75% specificity, and also showed increased expression in AR by immunohistochemistry in renal, hepatic and cardiac transplant biopsies. Our results demonstrate that integrating gene expression microarray measurements from disease samples and even publicly-available data sets can be a powerful, fast, and cost-effective strategy for the discovery of new diagnostic serum protein biomarkers.”
“Virilization in an adolescent patient can occur for multiple reasons (ovarian, suprarenal or exogenous reasons).