Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation.

OBJECT: Genetic mechanisms of atlantoaxial dislocation (AAD) have not previously been elucidated. The authors studied association of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes enzymes of the folate pathway (implicated in causation of neural tube defects [NTDs]), in patients with AAD. METHODS: Molecular analysis of MTHFR polymorphisms (677C-->T, cytosine to thymine and, 1298A-->C, adenine to cytosine, substitutions) was carried out using polymerase chain reaction and restriction enzyme digestion in 75 consecutive patients with AAD and in their reducible (nine patients, 12%) and irreducible (66 patients, 88%) subgroups. Controls were 60 age- and sex-matched patients of the same ethnicity. Comparisons of genotype and allele frequencies were performed using a chi-square test (with significance at p < 0.05). RESULTS: The CT genotype frequency of MTHFR 677C-->T polymorphism was significantly increased in the full group of patients with AAD (odds ratio [OR] 3.00, 95% confidence interval [CI] 1.28-7.14, p = 0.005) as well as in the irreducible subgroup (OR 2.81, 95% CI 1.17-6.86, p = 0.01). The frequency of T alleles was also higher in the AAD group (25.3%) than in controls (15%). The comparison of the combined frequency of CT and TT genotypes with the frequency of the CC genotype again showed significant association in AAD (OR 2.63, 95% CI 1.98-5.90, p = 0.009) and the irreducible (OR 2.5, 95% CI 1.1-5.74, p = 0.016) subgroup. There was, however, no significant association of MTHFR 1298A-->C polymorphism with AAD. CONCLUSIONS: Both MTHFR 677C-->T polymorphism and higher T allele frequency have significant associations with AAD, especially the irreducible variety. Perhaps adequate supplementation of periconceptional folic acid to circumvent effects of this missense mutation (as is done for prevention of NTDs) would reduce the incidence of AAD.

Atlanto-axial subluxation syndrome and management of intractable headache, neck pain and shoulder pain with auricular stimulation: a clinical case report.

Atlanto-axial subluxation syndrome is a condition that is easily overlooked, misdiagnosed and mismanaged. Anatomy, neurovascular involvement and description of clinical manifestations are reviewed. Bi-Digital O-Ring Test is employed to establish an accurate diagnosis and its value and accuracy described briefly. Bi-Digital O-Ring Test has been an important diagnosis confirmation method (reconfirmed by CT or MRI in over 95% of more than 850 clinical cases) in this author's practice of spinal disorder and intractable pain management. A newly described device, the KIM-STIM, offers auricular stimulation of multiple points, using electrical microcurrent. Each unit is individually custom-molded to the patient's ear, and fitted with multiple electrodes. It was found to be very effective in managing the majority of intractable pain, especially pain requiring multiple daily treatments in order for the patient to live and function normally. The KIM-STIM device allows the patient to self-manage the pain, by day or night, thus allowing for a reduction or elimination of medication intake and diminishing the necessity for frequent doctor visits.

[A clinical observation for the posterior atlanto-axial arthrodesis under acupuncture anesthesia].

73 cases of the posterior Atlanto-Axial Arthrodesis were performed under acupuncture anesthesia. The anesthesia effects were satisfactory, the good and excellent rate was 80.0%. The patients were awake during the operation under acupuncture anesthesia, thus the injure of nerve can been avoided or decreased. During operation the patient's breathing and circulation function were stable. It is desirable that acupuncture anesthesia is used for the posterior Atlanto-Axial Arthrodesis.