The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.

BACKGROUND: There is a specific polymorphism of the ACAN gene called the variable number of tandem repeats (VNTR), which is particularly interesting in the light of the development of intervertebral disc pathology and associated low back pain. MATERIALS AND METHODS: The nucleus pulposus specimens were harvested from the L5/S1 intervertebral discs. The aggrecan content was determined using enzyme- linked immunosorbent assay (ELISA). Moreover, the VNTR polymorphism in the ACAN gene was evaluated. RESULTS: The genotyping of VNTR polymorphism in ACAN gene was successful in 94 tissue samples (48 homozygotes and 46 heterozygotes). The alleles were divided into four groups, in accordance with the number of tandem repeats in the ACAN gene. No difference between groups in the mean aggrecan mass nor in the mean degree of tissue moisture was observed. CONCLUSIONS: No relationship between the ACAN gene VNTR polymorphism and the aggrecan content was observed in studied Caucasian cadavers. Such a relationship may be a more complex phenomenon and exists in other populations.

Carpal tunnel syndrome: state-of-the-art review.

Carpal tunnel syndrome is the most common peripheral nerve entrapment encountered worldwide. The aetiology can be related to repetitive exposure to vibrations or forceful angular motions, genetic predisposition, injury and specific conditions, such as diabetes, pregnancy and morbid obesity. This entity is observed with increased frequency in females and the elderly. The diagnosis is largely clinical and suspected when patients present with typical symptoms such as numbness, tingling, nocturnal paraesthesia and/or neuritic "pins-and-needles" pain in the radial 3.5 digits. Certain provocative manoeuvres can be employed to evoke the symptoms of the disease to guide the diagnosis. Further testing such as electrodiagnostic studies, ultrasound or magnetic resonance imaging is required in the case of diagnostic uncertainty or if there is a need for objective evaluation whether or not more invasive surgical intervention is required. If the presenting symptoms are mild and discontinuous, non-surgical measures are indicated. However, if the symptoms are moderate to severe, further testing modalities such as nerve conduction studies or needle electromyography are used to determine whether carpal tunnel syndrome is acute or chronic. If significant evidence of axonal injury is identified, surgical treatment may be indicated. Surgical release of the carpal tunnel has evolved over time to become the most common hand surgery procedure.