Disease relevance of Spine

• Aldh1a2 haploinsufficiency prevents the appearance of spina bifida and rescues the development of posterior structures (sacral/caudal vertebrae, hindgut, urogenital tract), while partly preventing cervical vertebral transformations and hindbrain pattern alterations in Cyp26a1(-/-) mice [1].
• Since Sim2 mRNA is expressed in facial, skull, palate and vertebra primordia in human and rodent embryos, features that are associated with phenotypes of Down's syndrome (DS), its trisomic state is suspected to contribute to the symptoms of DS [2].
• MATERIALS AND METHODS: A total of 103 patients with initial diagnosis of lung cancer was prospectively examined with planar bone scintigraphy (BS), SPECT of the vertebral column and PET using F-18 sodium fluoride (F-18 PET) [3].
• Mice lacking both Gdf5 and Gdf6 show additional defects, including severe reduction or loss of some skeletal elements in the limb, additional fusions between skeletal structures, scoliosis, and altered cartilage in the intervertebral joints of the spinal column [4].
• We report a 12-yr-old boy without a history of steroid use, in whom severe osteoporosis and multiple collapsed vertebrae were the presenting manifestations of Crohn's disease [5].

High impact information on Spine

• Further expression analysis of Pitx3 in the mouse supports a unique role in early ocular development, with later expression extending to the midbrain, tongue, incisors, sternum, vertebrae and limbs [6].
• Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a cervical vertebra and defects in the closure of the sternal rudiments [7].
• The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column [8].
• Exposure of murine embryos to teratogenic doses of retinoic acid (RA) induced homeotic transformations of vertebrae [9].
• We found evidence in the records of a total of 58 fractures of the ribs or vertebrae in 14 of the patients who had received long-term steroid treatment (11 per cent) and no evidence of fractures in the patients who had not received long-term treatment [10].

Chemical compound and disease context of Spine

• Osteopenia and dynamic tetracycline-based estimates of increased bone turnover in ovariectomized animals were more pronounced in the proximal tibia relative to the lumbar vertebra [11].
• Channel catfish fingerlings fed purified diets devoid of vitamin C showed reduced growth rate, deformed spinal columns, external and internal hemorrhages, erosion of fins, dark skin color and reduced bone collagen content after 8 to 12 weeks, whereas fish fed a diet containing 30 mg/kg of vitamin C had none of these anomalies after 22 weeks [12].
• Cervical MR imaging disclosed an extra-medullary intradural crooked shadow at the level between C2 and C3 vertebrae, which was proven by selective angiogram of the ascending cervical artery to be a dural arteriovenous malformation located in the right C3 root sleeve [13].
• We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation [14].
• MATERIALS AND METHODS: Twenty-five patients with spinal compression fractures underwent routine spinal MRI with an additional (1)H MRS study protocol to assess the percent fat fraction of the compressed vertebrae as well as the adjacent bony environment [15].

Biological context of Spine

• The chromosomal location and the mutation in the paired box of un mice in conjunction with Pax 1 gene expression in wild-type mice implicate a causative role of Pax 1 in generation of the vertebral column [16].
• The third phenotype, an anteriorizing homeotic transformation of the cervicothoracic vertebrae from C6 through T1, is common to both hoxb-5- and hoxb-6- homozygotes [17].
• Bone formation rates in the vertebrae were similar in both CHO/- and CHO/TNF mice treated with PTHrP [18].
• CEA was first detected at day 10.5 of embryonic development (embryonic day 10.5) in primary trophoblast giant cells and was found in the developing gut, urethra, trachea, lung, and nucleus pulposus of the vertebral column from embryonic day 14.5 onwards [19].
• The double Hoxa-10/Hoxd-11 mutation also conferred full penetrance to the sacral and caudal vertebrae transformations which are approximately 50% penetrant in Hoxd-11-/- single mutants, revealing that functional cooperation can also occur between non-paralogous Hox gene products in axial skeleton patterning [20].

Anatomical context of Spine

• Pax 1, a murine paired box-containing gene, is expressed in ventral sclerotome cells and later in intervertebral disks along the entire vertebral column [16].
• Early defects are observed in the establishment or maintenance of midline structures, such as the notochord and the floorplate, and later defects include absence of distal limb structures, cyclopia, absence of ventral cell types within the neural tube, and absence of the spinal column and most of the ribs [21].
• We show here that expression of Hoxa10 in the presomitic mesoderm is sufficient to confer a Hox group 10 patterning program to the somite, producing vertebrae without ribs, an effect not achieved when Hoxa10 is expressed in the somites [22].
• The osteogenic sarcomas were often multiple and appeared predominantly in the facial bones, less frequently in the ribs and vertebral column, and only rarely in the appendicular skeleton [23].
• We conclude that Pax-1 is necessary for normal vertebral column formation along the entire axis, although the severity of the phenotype is strongest in the lumbar region and the tail [24].

Associations of Spine with chemical compounds

• After in vivo double tetracycline labeling, bone histomorphometry by standard methods was performed on one femur and one tail vertebra [25].
• The antisera were labeled with fluorescein and applied to sections of muscles from various vertebrae species [26].
• PHY increased, by over 3-fold, the spontaneous activity of reticulospinal cardiovascular neurons in the C1 area which excite preganglionic sympathetic neurons in the intermediolateral spinal column [27].
• Loading of rat vertebrae and ulnae produces increases in NO2- release, and in ulnae NO synthase inhibitors diminish these responses [28].
• The density of peripheral-type benzodiazepine receptors and adenosine A1 receptors was dramatically increased (250-300%) in the lateral and ventral spinal columns, reflecting the proliferation of glial cells [29].

Gene context of Spine

• Thus, Lmx1a is required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae [30].
• Disruption of Fgfr3 results in prolonged growth of long bones and vertebrae [31].
• No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes [32].
• Btg2-null mice are viable and fertile but exhibit posterior homeotic transformations of the axial vertebrae in a dose-dependent manner [33].
• Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae [34].

Analytical, diagnostic and therapeutic context of Spine

• In this study we show that disruption of the type IIB activin receptor (ActRIIB) by gene targeting results in altered expression of multiple Hox genes and abnormal patterning of the vertebrae, similar to but severer than retinoic acid (RA)-induced anterior transformation [35].
• We wished to determine how quickly the ultrastructure of the osteogenic cells, i.e. osteoblasts and lining cells, of the cancellous bone of the second lumbar vertebra of ovariectomized rats was altered in response to the initiation and cessation of treatment [36].
• In conclusion, in parturients of age, height, weight, body mass index, and vertebral column length within the aforementioned ranges, it is not necessary to vary the dose of injected hyperbaric bupivacaine with changes in any of the patient variables studied [37].
• Serial measurements of bone mineral in 17 ambulant female patients with rheumatoid arthritis (RA) of recent onset and 19 age matched female controls were made in the radius by computed tomography and in the vertebrae by dual photon absorptiometry [38].
• Direct stereological estimation of three-dimensional connectivity in rat vertebrae: effect of estrogen, etidronate and risedronate following ovariectomy [39].

References