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1.
J Shoulder Elbow Surg ; 14(1 Suppl S): 79S-83S, 2005.
Article in English | MEDLINE | ID: mdl-15726091

ABSTRACT

Shoulder overuse injuries, especially those to the supraspinatus tendon of the rotator cuff, are common musculoskeletal disorders. Unfortunately, little is known about the disease etiology and pathogenesis. The objective of this study was to determine the levels of specific inflammatory and angiogenic markers in a rat supraspinatus tendon overuse injury model. We hypothesized that inflammation would not be present early in the overuse protocol. Conversely, we hypothesized that the overuse protocol would result in increased angiogenesis early. Increases in five-lipoxygenase activating protein, cyclooxygenase-2, vascular endothelial growth factor, and von Willebrand factor were evaluated by use of reverse transcription-polymerase chain reaction from 1 day through 16 weeks of treadmill running (overuse protocol). These results provide important information on the role of angiogenesis and inflammation in the disease process. Future studies will further evaluate the mechanisms of the disease process as well as potential targeted treatment modalities.


Subject(s)
Cumulative Trauma Disorders/metabolism , Rotator Cuff Injuries , Rotator Cuff/metabolism , 5-Lipoxygenase-Activating Proteins , Animals , Carrier Proteins/biosynthesis , Carrier Proteins/genetics , Cumulative Trauma Disorders/complications , Cyclooxygenase 2 , Disease Models, Animal , Inflammation/etiology , Membrane Proteins/biosynthesis , Membrane Proteins/genetics , Neovascularization, Pathologic/etiology , Prostaglandin-Endoperoxide Synthases/biosynthesis , Prostaglandin-Endoperoxide Synthases/genetics , RNA, Messenger/biosynthesis , Rats , Rats, Sprague-Dawley , Vascular Endothelial Growth Factors/biosynthesis , Vascular Endothelial Growth Factors/genetics , von Willebrand Factor
2.
Brain Dev ; 27(2): 108-13, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15668049

ABSTRACT

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there should be controversy over the type of paroxysmal events. Review of the literature and our patients confirmed that each centre had studied only a small numbers of individuals (mean = 2). The type of movement disorder varied both with age and between individuals. One individual might have more than one movement disorder. One of our adult patients had several types of movement disorder and epilepsy that merged seamlessly: there was true cataplexy triggered by telling a joke, something close to cataplexy ('cataplexy') triggered by sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures. In the large database of the Coffin-Lowry Syndrome Foundation family support group, 34 of 170 (20%) individuals with CLS and known age had 'drop attacks' and an additional 9 (5%) of these had additional epileptic seizures. The onset of such events was usually after age 5 years, prevalence peaking at 15-20 years (27%). Many became wheelchair bound as a result. This unique combination of more than one non-epileptic movement disorder and epilepsy deserves further semiological and genetic study both for the patients with CLS and for the wider implications.


Subject(s)
Coffin-Lowry Syndrome/physiopathology , Movement Disorders/physiopathology , Adolescent , Adult , Cataplexy/physiopathology , Child , Child, Preschool , Epilepsy/physiopathology , Female , Humans , Male , Reflex, Startle
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