Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms.

New Compounds Targeting the Androgen Receptor for Treatment of Advanced Prostate Cancer.

The androgen receptor (AR) signalling pathway remains a key driver of prostate cancer progression despite castrate levels of testosterone in advanced disease. The androgen biosynthesis inhibitor abiraterone and the anti-androgen enzalutamide have been shown to prolong survival in randomized clinical trials both pre-and post-docetaxel chemotherapy and are now in routine clinical use. With the use of these drugs and other novel survival-prolonging therapeutics, patients with advanced prostate cancer are now living longer with better quality of life.

Telemedicine and burns: an overview.

Access to specialized burn care is becoming more difficult and is being restricted by the decreasing number of specialized burn centers. It is also limited by distance and resources for many patients, particularly those living in poverty or in rural medically underserved communities. Telemedicine is a rapidly evolving technology related to the practice of medicine at a distance through rapid access to remote medical expertise by telecommunication and information technologies.

A nationwide non-interventional epidemiological data registry on myelodysplastic syndromes in Lebanon.

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by peripheral blood cytopenias, blood cells dysplasia, and increased risk for progression to acute leukemia.Physicians should be vigilant in diagnosing MDS and should be aware of the contemporary therapies that are always in progress. Most of the data on MDS epidemiology and management comes from developed countries.

Recurrent twin pregnancy, with the second a heterotopic pregnancy, following clomiphene citrate stimulation: an unusual case and a review of the literature.

Multiple gestations are on the rise with the advent of artificial reproductive technologies. Even with ovulation induction using clomiphene citrate alone, the twinning rate can reach up to 9 percent. We report a case of recurrent twin gestation after treatment with clomiphene citrate, with the second pregnancy being heterotopic.

Physical rehabilitation of pediatric burns.

Significant improvements have been made in the acute treatment of pediatric burn injuries over the past 3 decades which have significantly decreased mortality. Each year, more burned children are necessitating serious medical attention during their convalescence. For children with serious consequences resulting from burns that can persist from childhood through adolescence into adulthood, the value of long-term rehabilitation cannot be over stated.

Reverse tissue expansion by liposuction deflation adopted for harvest of large sheet of full-thickness skin graft.

Full-thickness skingraft is a valid option to release burn scar contractures with the main purpose of correcting the induced limitation in function and improve the disfiguring appearance of the scar. The main pitfall remains the limited availability of these grafts, especially when large sheets are needed. We present an application of a previously described technique known as reverse tissue expansion, which permits the harvesting of a large sheet of full thickness skin graft when needed.

Pregnancy outcome in spontaneous twins versus twins who were conceived through in vitro fertilization.

Objective: The purpose of this study was to compare maternal and neonatal complications in spontaneous versus in vitro fertilization twins.

Study Design: Twin gestations that were delivered from 1995 to 2000 were reviewed. Cases consisted of 56 in vitro fertilization twins, each of which was matched to two control mothers by age and parity.