Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003090 (arthrodesis)
 8,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of sub-occipital Pott's disease is reported: a 26 year old, coloured male patient from Senegal was admitted for: cervical pain of 6 month duration, neck stiffness, dysphagia, left XII paralysis and left hemiparesis. The radiological study found an anterior atlanto-axial subluxation, basilar impression, and increased thickness of the retropharyngeal soft tissue, lysis of the left occipital condyle and the left lateral mass. CT scan study revealed a retropharyngeal mass and an epidural contrast-enhanced lesion at the C2 C3 C4 levels. Chest-X ray showed one tuberculous lesion at the right apex. The research of Acid Fast Bacilli in gastric secretion samples and the results of the retropharyngeal mass puncture were positive. An antituberculous trichemotherapy was started. After early reduction by skull tongs traction, an occipito-cervical arthrodesis by Roy Camille plates was performed, followed by the wearing of a minerva plaster jacket and then a plastic collar. Each one for a 5 month period. One year later, there remained only a left XII paralysis, but the bony reconstruction was not yet obvious on tomography. A survey of the literature of 70 cases of sub-occipital Pott's disease has pointed out these findings: cervical pain (98%), neck stiffness (82%), Atlantoaxial subluxation (68%), thickened prevertebral soft tissue shadow (77%), lateral mass lysis (48%) other tuberculous focus (29%). The main therapeutic trends are: early and long-lasting antituberculous poly-chemotherapy, early reduction of subluxations, prolonged contention for slight osteolytic lesions and for major: lytic lesions, a posterior surgical procedure either by bone graft combined with wires or preferably fusion by means of occipito-cervical plates. The removal of abscess is discussed.
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PMID:[Suboccipital Pott's disease]. 344 87

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease. We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum. Both patients were diagnosed as having FOP. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients. This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.
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PMID:A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. 1930 Aug 93

General anesthesia was successfully performed in a 9-year-old boy with FOP. FOP is a very rare inherited disease of the connective tissue, characterized by progressive heterotopic ossification of skeletal muscles, tendons, and ligaments. Trauma and invasive medical procedures can induce heterotopic ossification. Anesthetic concerns for FOP patients include particular attention to airway management and susceptibility to respiratory complications. Regarding the airway management in general anesthesia, excessive stretching of the jaw and extension of the head may lead to the ankylosis of the temporo-mandibular joint and the neck stiffness. Ankylosis of the costvertebral joints induces restrictive ventilatory impairment, which causes atelectasis and lung infection in the perioperative period. Relating to anesthetic management for a child with FOP, anesthesiologists should keep in mind the prevention of exacerbation of the symptoms and subsequent impairment of activities of daily living postoperatively.
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PMID:[Anesthetic management of a child with fibrodysplasia ossificans progressiva (FOP)]. 2406 39

We describe a case of a 19-year-old young man with oligoarthritis type of juvenile idiopathic arthritis, who presented with several month duration of lower neck pain and progressive muscular weakness of all four limbs. X-rays of the cervical spine demonstrated spontaneous apophyseal joint fusion from the occipital condyle to C6 and from C7 to Th2 with marked instability between C6 and C7. Surgical intervention began with anterolateral approach to the cervical spine performing decompression, insertion of cage and anterior vertebral plate and screws, followed by posterior approach and fixation. Care was taken to restore sagittal balance. The condition was successfully operatively managed with multisegmental, both column fixation and fusion, resulting in pain cessation and resolution of myelopathy. Postoperatively, minor swallowing difficulties were noted, which ceased after three days. Patient was able to move around in a wheelchair on the sixth postoperative day. Stiff neck collar was advised for three months postoperatively with neck pain slowly decreasing in the course of first postoperative month. On the follow-up visit six months after the surgery patient exhibited no signs of spastic tetraparesis, X-rays of the cervical spine revealed solid bony fusion at single mobile segment C6-C7. He was able to gaze horizontally while sitting in a wheelchair. Signs of myelopathy with stiff neck and single movable segment raised concerns about intubation, but were successfully managed using awake fiber-optic intubation. Avoidance of tracheostomy enabled us to perform an anterolateral approach without increasing the risk of wound infection. Regarding surgical procedure, the same principles are obeyed as in management of fracture in ankylosing spondylitis or Mb. Forestrier.
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PMID:Operative stabilization of the remaining mobile segment in ankylosed cervical spine in systemic onset - juvenile idiopathic arthritis: A case report. 2745 58

Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disorder causing neck stiffness, ankylosis of temporomandibular joints, and severe restrictive respiratory dysfunction due to progressive heterotopic ossification of the connective tissue. Herein, we report a case of successful airway and anesthesia management using a high-flow nasal cannula (HFNC) in a 51-year-old man with FOP undergoing partial bone resection of the right greater trochanter of the femur. Although general anesthesia with awake fiberoptic nasotracheal intubation has been described as the gold standard, HFNC may yield another potentially viable option for patients undergoing a surgical procedure that does not involve the airway.
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PMID:Successful Airway and Anesthesia Management Using a High-Flow Nasal Cannula in a Fibrodysplasia Ossificans Progressiva Patient During General Anesthesia: A Case Report. 3181 72