The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion.

Background: The recently identified PROS1 mutation Protein S Erlangen c.1904T>C, resulting in amino acid exchange F635S, is associated with severe quantitative protein S (PS) deficiency and clinical thrombosis. It was hypothesized that this deficiency is due to a secretion defect [1].

Museum DNA reveals a new, potentially extinct species of rinkhals (Serpentes: Elapidae: Hemachatus) from the Eastern Highlands of Zimbabwe.

Genetic information plays a pivotal role in species recognition and delimitation, but rare or extinct animals can be difficult to obtain genetic samples from. While natural history wet collections have proven invaluable in the description of novel species, the use of these historical samples in genetic studies has been greatly impeded by DNA degradation, especially because of formalin-fixation prior to preservation. Here, we use recently developed museum genomics approaches to determine the status of an isolated population of the elapid snake genus Hemachatus from Zimbabwe.

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.

The members of a Caucasian family were genetically analyzed on suspicion of hereditary protein S deficiency. A novel mutation, c.1904T>C, associated with severe quantitative protein S deficiency was found.

Complications and Radiographic Outcomes After Tibiotalocalcaneal Fusion With a Retrograde Intramedullary Nail.

Background: Tibiotalocalcaneal (TTC) arthrodesis is a salvage reconstructive procedure for ankle and subtalar arthritis and deformity. This study aims to identify fusion rates and complications of TTC arthrodesis procedures performed at our institution using a specific retrograde intramedullary nail. Additionally, we analyzed the subpopulation that sustained an intramedullary nail break.

Common Foot and Ankle Injuries: What Not to Miss and How Best to Manage.

Injuries to the foot and ankle are commonly encountered, especially among athletes, and can lead to morbidity if not managed appropriately. Health care professionals must have a firm understanding of injury anatomy, diagnoses, and management. This article provides a review of lateral talus process fractures, os trigonum injuries, Lisfranc injuries, turf toe, navicular stress fractures, and syndesmotic injuries.