The relationship between prognostic factors and patient satisfaction with performance of self-identified goals following interdisciplinary mild traumatic brain injury rehabilitation.

Background: Individuals with persistent symptoms following a mild traumatic brain injury (mTBI) demonstrate improved satisfaction with their performance of self-identified rehabilitation goals after completing a combined occupational therapy and physiotherapy group intervention. However, the relationship between factors associated with developing persistent symptoms following an mTBI and satisfaction with their performance of self-identified goals after completing an intervention are unknown.

Objective(s): To evaluate whether factors associated with developing persistent symptoms influence satisfaction with the performance of self-identified goals after completing a combined occupational therapy and physiotherapy group intervention.

Completing an interdisciplinary outpatient intervention improves patient rehabilitation goals following a mild traumatic brain injury.

Background: Individualized and interdisciplinary rehabilitation programs are recommended following a mild traumatic brain injury (mTBI), but often have long waitlists. Accordingly, innovative evidence-based programs are needed.

Objectives: The first objective of this study was to determine the number and types of rehabilitation goals chosen by individuals completing an interdisciplinary outpatient rehabilitation intervention (BrainEx90) for persisting symptoms following an mTBI.

Veterans' pain management goals: Changes during the course of a peer-led pain self-management program.

Objective: Goal setting is a common element of self-management support programs; however, little is known about the nature of patients' goals or how goals change during pain self-management. The purpose of the current study is to explore how patients' goals and views of goal setting change over the course of a peer-led pain self-management program.

Methods: Veterans (n=16) completing a 4-month peer-led pain self-management program completed semi-structured interviews at baseline and follow-up regarding their goals for their pain.

De novo mutations in epileptic encephalopathies.

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations.

The epilepsy phenome/genome project.

Background: Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies.

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

Osteoporosis is a complex disease that affects >10 million people in the United States and results in 1.5 million fractures annually. In addition, the high prevalence of osteopenia (low bone mass) in the general population places a large number of people at risk for developing the disease.