The spine in ß-thalassemia syndromes.

STUDY DESIGN: Literature review. OBJECTIVE: To present a comprehensive overview of spinal involvement in patients with ß-thalassemia, aiming to orient the spinal surgeon to these potentially disabling complications. SUMMARY OF BACKGROUND DATA: ß-thalassemia, an inherited disorder of hemoglobin synthesis, is the most common monogenetic disease worldwide. Patients with thalassemia major (TM) suffer a severe anemia that requires regular blood transfusions for survival and iron chelation therapy to control transfusional iron overload. Thalassemia intermedia is a phenotype of thalassemia with a milder course and anemia, wherein most patients remain transfusion independent. Spinal involvement related to disease course and treatment is common in patients with thalassemia syndromes, yet it has not been constructively reviewed in the literature. METHODS: Potentially relevant studies were identified from an electronic search of MEDLINE (1966 to the second week of May 2010). RESULTS: In patients with TM, genetic and acquired risk factors lead to osteoporosis, pathologic fractures of the spine, and back pain. Osteoporosis in TM patients is progressive; thus, early diagnosis and treatment are recommended. Bisphosphonates are relatively safe and effective in this patient population. Characteristic intervertebral disc degeneration is also seen in patients with TM who have evidence of severe iron overload or those who receive the subcutaneous iron chelator deferoxamine. Spinal asymmetry and overt scoliosis are common in patients with TM. The prognosis seems favorable, with many patients showing spontaneous resolution without the need for intervention. In patients with thalassemia intermedia, ineffective erythropoiesis drives extramedullary hematopoietic tissue formation, which is mostly evident on magnetic resonance imaging. Paraspinal involvement is of greatest concern because of the associated spinal cord compression. Several treatment options have been described, including transfusion therapy, laminectomy, radiotherapy, and the use of fetal hemoglobin-inducing agents that decrease the hematopoietic drive. CONCLUSION: Current knowledge supports that spinal involvement in patients with ß-thalassemia is common and diverse yet still requires further prospective evaluation.

The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas.

Lumbar disc degeneration is frequently seen in athletes. Lumbar disc diseases include a spectrum of diseases and/or symptoms, including lumbar disc degeneration. Some reports suggest an association between lumbar disc diseases and a functional single-nucleotide polymorphism (SNP;1184T/C, rs 2073711) of the cartilage intermediate layer protein ( CILP) gene. We hypothesized that lumbar disc degeneration occurrence may be significantly associated with SNP variants at the CILP gene in Japanese collegiate judo athletes. Eighty-nine Japanese judo athletes participated in this study. T2-weighted magnetic resonance imaging was used to define lumbar disc degeneration. Genotyping of the CILP gene (1184T/C) was performed using DNA sequencing. By using logistic regression analysis, significant associations of lumbar disc degeneration with the CILP C allele (odds ratio=4.1, 95% confidence interval: 1.57-10.71) and body weight (odds ratio=1.06, 95% confidence interval: 1.02-1.09) were observed. We conclude that the CILP gene 1184T/C polymorphism is a significant risk factor for lumbar disc degeneration occurrence in Japanese collegiate judo athletes.

[Effect of connexin 43 knockout on acupuncture-induced down-regulation of c-fos expression in spinal dorsal horn in visceral pain mice].

OBJECTIVE: To explore the effect of connexin 43 gene knockout on acupuncture analgesia. METHODS: Seventy-two wide type (WT) and connexin 43 gene knockout mice were separately and randomly divided into: WT control group, WT model group, WT acupuncture group, heterozygous (HT) control group, HT model group and HT acupuncture group, with 12 cases in each. Visceral pain model was established by intraperitoneal administration of acetic acid. "Zhongwan" (CV 12) and bilateral "Zusanli" (ST 36) were punctured with a filiform needle for 30 min and stimulated by manipulating the needle 30 s every 5 min. The expression of c-fos in the spinal dorsal horn was assayed by using RT-PCR and western blot techniques. RESULTS: There was no significant difference between HT and WT control mice in relative grey value of spinal c-fos mRNA expression (P>0.05), in which few c-fos mRNA and protein expressed. The expression of c-fos mRNA and protein was increased significantly following intraperitoneal acetic acid injection compared with control groups in both HT and WT mice (P<0.01). And no significant difference was found between HT and WT model groups in c-fos mRNA expression (P>0.05). Compared with WT model group, the expression of both c-fos mRNA and c-fos protein in WT acupuncture group was down-regulated significantly (P<0.01). In comparison with HT model group, the expression of both c-fos mRNA and protein in HT acupuncture group was down-regulated but without statistically significant difference (P>0.05). And the expression of c-fos mRNA and protein in HT acupuncture group was significantly higher than that in WT acupuncture group (P<0.05, 0.01). CONCLUSION: Acupuncture has a marked antinociceptive effect in visceral pain mice, and simultaneously suppresses the expression of c-fos mRNA and protein evoked by noxious stimulation in the spinal dorsal horn. Connexin 43 gene knockout may weaken acupuncture analgesia and reduce EA-induced down-regulation of c-fos expression, suggesting an involvement of connexin 43 in the analgesic effect of acupuncture.

Etiopathogenesis of skeletal hyperostosis. A study of a European population that lived 7700 years ago.

The prevalence of hyperostosis meeting the criteria developed by Arlet and Mazières in skeletons from two of the oldest European necropolises of neolithic farmers was about 10%, i.e., similar to that in a medieval population of comparable demographic structure. This similarity over a greater than 6600-year period suggests that hyperostosis is related to genetic factors.

Juvenile rheumatoid arthritis and spondyloarthropathies.

Further insight into the etiology and pathogenesis of juvenile rheumatoid arthritis (JRA) is presented in recent immunogenetic studies, particularly the allele associations of the pauciarticular pattern of disease. Evidence suggests that bacterial heat-shock proteins may be significant in the chronic inflammatory response in children with arthritis. Data on the role of complement activation and cytokines and their receptors also are presented. Coagulopathy in JRA may have more than one etiologic factor, including a viral agent, as may the disease itself. In the treatment of growth abnormalities in JRA, the neuroendocrine system, recombinant growth hormone, intravenous iron therapy, and nutritional supplementation are all areas of recent investigation. In outcome studies, ocular involvement and the presence of circulating IgM rheumatoid factor appear to be risk factors for disability. However, disease of less than 2 years' duration and absence of radiographic lesions likely predict good response to methotrexate therapy.