Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.

A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L-serine completely resolved the ichthyosis.

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.

Importance: Niemann-Pick disease, type C1 (NPC1) is a progressive neurovisceral disease with no US Food and Drug Administration-approved therapy. Miglustat, a drug used off-label in the United States for the treatment of NPC1, appears to stabilize neurologic disease progression. Several prospective trials suggest that miglustat stabilizes oropharyngeal swallowing function; however, its effect on dysphagia and aspiration risk has not been demonstrated instrumentally.

Verb and noun deficits in stroke-induced and primary progressive aphasia: The Northwestern Naming Battery().

BACKGROUND: Word class naming deficits are commonly seen in aphasia resulting from stroke (StrAph) and primary progressive aphasia (PPA), with differential production of nouns (objects) and verbs (actions) found based on StrAph type or PPA variant for some individuals. Studies to date, however, have not compared word class naming (or comprehension) ability in the two aphasic disorders. In addition, there are no available measures for testing word class deficits, which control for important psycholinguistic variables across language domains.

The effects of recovery interventions on consecutive days of intermittent sprint exercise.

The purpose of this study was to compare four recovery interventions following simulated team sport, intermittent-sprint exercise on consecutive days. Ten female netball players performed four randomized sessions of a simulated netball exercise circuit on consecutive days. Each condition consisted of two identical sessions (Session 1 and 2), with the recovery intervention implemented at the completion of Session 1.

Recovery of voluntary and evoked muscle performance following intermittent-sprint exercise in the heat.

Purpose: This study investigated the effects of hot conditions on the acute recovery of voluntary and evoked muscle performance and physiological responses following intermittent exercise.

Methods: Seven youth male and six female team-sport athletes performed two sessions separated by 7 d, involving a 30-min exercise protocol and 60-min passive recovery in either 22 degrees C or 33 degrees C and 40% relative humidity. The exercise protocol involved a 20-s maximal sprint every 5 min, separated by constant-intensity exercise at 100 W on a cycle ergometer.

The effects of compression garments on recovery of muscle performance following high-intensity sprint and plyometric exercise.

This study compared the effects of compression garments on recovery of evoked and voluntary performance following fatiguing exercise. Eleven participants performed 2 sessions separated by 7 days, with and without lower-body compression garments during and 24h post-exercise. Participants performed a 10-min exercise protocol of a 20-m sprint and 10 plyometric bounds every minute.