Successful polar body-based preimplantation genetic diagnosis for achondroplasia

Achondroplasia, the most common form of dwarfism, is a candidate for preimplantation genetic diagnosis (PGD) because a single mutation accounts for almost all cases. Multiplex fluorescent assay including the common G380R mutation in the FGFR3 gene and eight close polymorphic markers was developed. First and second polar bodies (PB) were used for PGD analysis. An affected woman was treated with routine long-protocol ovarian stimulation and puncture. In the first PGD cycle, out of four fertilized oocytes, PB analysis revealed two mutant oocytes, one with total amplification failure of the maternal allele and one with inconclusive results. In the second PGD cycle, 14 oocytes were retrieved following a higher FSH dose and by performing oocyte retrieval and by placing the patient in the anti-Trendelenburg position using abdominal pressure to allow all follicles to be drained. Following PB analysis, two embryos containing the wild-type FGFR3 allele were transferred. This led to an uncomplicated pregnancy and delivery by Caesarean section at week 38 of a healthy boy, carrying the FGFR3 wild-type maternal allele. In conclusion, oocyte retrieval, while difficult in patients with achondroplasia, can be successfully performed. PB analysis is a reliable and sensitive method for PGD for maternal achondroplasia.     

New guidelines for maternal and neonatal resuscitation

New evidence has prompted changes in our national cardiopulmonary resuscitation guidelines for both neonates and adult patients. The purpose of this article is to provide an overview of the changes recommended by the American Heart Association, Academy of American Pediatrics, and the American College of Obstetrics and Gynecology. In addition, a strategy for implementing these guidelines into practice is suggested.     

An exploratory investigation into the usability and usefulness of training people with learning disabilities in a virtual environment

Purpose : Two studies sought to answer the following questions. Are people with learning disabilities capable of using a virtual environment? Are they motivated to learn using this training method? Do they show any benefit from using a virtual environment? Does any benefit transfer to improved real world performance? Method : In the first study, 30 students with learning disabilities were sequentially allocated to an active or a passive experimental group. Active participants explored a virtual bungalow searching for a toy car. Passive participants watched the exploration undertaken by the preceding active participant and searched for the toy car. All participants then performed spatial and object recognition tests of their knowledge of the virtual environment. In the second study, the errors of 45 participants on a real steadiness tester task were noted before they were randomly allocated to three groups--a real training group, a virtual training group and a no training group. After training, the participants performed a second test trial on the real steadiness tester. Results : The students were capable of using a virtual environment and were motivated to use this training method. Active exploration of a virtual environment was found to enhance their memory of the spatial layout of the bungalow but not their memory of the virtual objects. In the second study, virtual training was found to transfer to real task performance. Conclusions : These two laboratory-based studies provide answers to four important questions concerning virtual training of people with learning disabilities. Hopefully, the findings will encourage this training aid to be used more widely.