Autism spectrum disorder in the genetics clinic: a review

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next‐generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.     

A technique to visualize wound bed microcirculation and the acute effect of negative pressure

Although previous studies have proved that subatmospheric pressure in vacuum assisted closure therapy increased blood flow at the wound edge, no reports have presented data on blood flow in the wound bed. This study examined a technique that visualized microcirculation of the wound bed and estimated the acute effect of negative pressure. The superficial stratum of the mouse gluteal skin was microsurgically excised preserving the subdermal vascular plexus. The preserved vessels were visualized as the wound bed microcirculation using an intravital microscope–video–computer system. Three levels of negative pressure (?125 mmHg [n=12], ?500 mmHg [n=12], 0 mmHg [n=8]) were applied to the wound. Our experimental model successfully and quantitatively visualized wound bed microcirculation under negative pressure application. A negative pressure of ?125 mmHg significantly increased wound bed blood flow immediately after pressure application, maintained for 1 minute after pressure release, whereas in the ?500 mmHg group blood flow decreased with time and reached a statistically significant level 5 minutes after pressure application. These findings reinforce the hypothesis that enhanced blood flow in the wound bed as well as at the wound edge may contribute to the beneficial effects of certain levels of negative pressure therapy for wound perfusion.     

Guidelines for the management of traumatic dental injuries. I. Fractures and luxations of permanent teeth

Crown fractures and luxations occur most frequently of all dental injuries. An appropriate treatment plan after an injury is important for a good prognosis. Guidelines are useful for delivering the best care possible in an efficient manner. The International Association of Dental Traumatology (IADT) has developed a consensus statement after a review of the dental literature and group discussions. Experienced researchers and clinicians from various specialties were included in the group. In cases where the data did not appear conclusive, recommendations were based on the consensus opinion of the IADT board members. The guidelines represent the current best evidence, based on literature research and professional opinion. In this first article of three, the IADT Guidelines for management of fractures and luxations of permanent teeth will be presented.