Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Examined were 74 patients ranging in age from 6 to 48 years with dysplastic scoliosis. Disorders in the system of hemostasis were revealed in 67 patients. Including the 25 operated ones. The operative blood loss of more than 20 % of the circulating blood volume was noted 2 times more often in patients with the disorders in the system of hemostasis, mainly with the VIII factor deficiency. Intravenous administration of a cryoprecipitate contributed to restoration of the normal VIII factor level and more than 2-fold decrease in operative blood loss.
 ...
PMID:[The clinical significance of a combination of dysplastic scoliosis with hemostatic system disorders]. 763 93

Intraoperative neurophysiological monitoring has evolved over the last 25 years to become an important component of many types of orthopedic and neurosurgical procedures. From its foundations in VIII cranial nerve surgeries and scoliosis corrections surgeries, intraoperative neurophysiological monitoring has expanded to incorporate nearly all spine procedures and many involving the brain and brainstem. Fundamental to this growth in the use of intraoperative neurophysiological monitoring has been the development of the technology used to perform the neurophysiological tests. Advancements in electronics and computer technology have resulted in significant improvements in the capacity, ease of use, quality and reliability of the equipment as well as the quality of and control over the acquired data. These technological advancements have resulted in remarkable improvements in not only the quality and availability of intraoperative neurophysiological monitoring, but also, as a consequence, patient care, and have arguably propelled the expansion of the use that intraoperative neurophysiological monitoring has seen over the last 10 years.
 ...
PMID:Intraoperative neurophysiological monitoring technology: recent advances and evolving uses. 1718 69

Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue.
...
PMID:Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations. 2433 17

Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility, with disease ranging from mild fractures to death in utero. We describe a child with autosomal recessive osteogenesis imperfecta type VIII (severe or lethal phenotype), who successfully underwent posterior spinal fusion, was extubated on postoperative day 1 and discharged home 25 days later. Recently identified recessive forms of osteogenesis imperfecta are associated with severe/lethal phenotype. Special consideration is needed in scoliosis surgery, with challenges arising from prone positioning, neurophysiology monitoring, and blood loss.
 ...
PMID:Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. 3011 26