Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 84-year-old female presented with bilateral giant intracavernous carotid artery aneurysms manifesting as right total ophthalmoplegia and trigeminal nerve paresis. Computed tomography and magnetic resonance imaging showed the two aneurysms as one fused mass, so the initial diagnosis was a parasellar tumor occupying the bilateral cavernous sinuses. The correct diagnosis required cerebral angiography. Considering her age, no surgical or interventional treatment was given. Eight months later, her right eye movement partially recovered and she had no further symptoms. There was no definite causative factors other than aging in this case.
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PMID:Bilateral giant intracavernous carotid artery aneurysms mimicking a cavernous sinus neoplasm--case report. 883 Dec 2

Basophilic inclusions (BIs), which are characterized by their staining properties of being weakly argyrophilic, reactive with Nissl staining, and immunohistochemically negative for tau and transactive response (TAR) DNA-binding protein 43 (TDP-43), have been identified in patients with juvenile-onset amyotrophic lateral sclerosis (ALS) and adult-onset atypical ALS with ophthalmoplegia, autonomic dysfunction, cerebellar ataxia, or a frontal lobe syndrome. Mutations in the fused in sarcoma gene (FUS) have been reported in cases of familial and sporadic ALS, and FUS immunoreactivity has been demonstrated in basophilic inclusion body disease (BIBD), neuronal intermediate filament inclusion disease (NIFID), and atypical frontotemporal lobar degeneration with ubiquitin-positive and tau-negative inclusions (aFTLD-U). In the present study, we immunohistochemically and ultrastructurally studied an autopsy case of sporadic adult-onset ALS with numerous BIs. The patient presented with the classical clinical course of ALS since 75 years of age and died at age 79. Postmortem examination revealed that both Betz cells in the motor cortex and motor neurons in the spinal cord were affected. The substantia nigra was spared. Notably, BIs were frequently observed in the motor neurons of the anterior horns, the inferior olivary nuclei, and the basal nuclei of Meynert. BIs were immunopositive for p62, LC3, and FUS, but immunonegative for tau, TDP-43, and neurofilament. Ultrastructurally, BIs consisted of filamentous or granular structures associated with degenerated organelles with no limiting membrane. There were no Bunina bodies, skein-like inclusions, or Lewy-like inclusions. All exons and exon/intron boundaries of the FUS gene were sequenced but no mutations were identified.
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PMID:An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions. 2057 33

Orbital reconstruction is a difficult procedure, success of which is dependent on the surgeon's experience. The lack of objective methods requires a fair amount of estimation is its execution. This study evaluates the efficacy of Kolibri (BrainLab, Munich, Germany), an intraoperative navigation device, in improving outcomes. From 2004 to 2009, 58 patients with orbital trauma who underwent surgery at the National University Hospital, Singapore, were included in this prospective matched control trial. Twenty-nine consecutive patients underwent surgery with Kolibri. The control group underwent surgery without the device. Both groups were matched for age, sex, orbital wall fracture, preoperative ophthalmologic features, etiology and severity of trauma, surgical approach, and types of implant used. The postoperative follow-up was at 1, 3, 6, and 12 months. For subjective assessment, the postoperative ophthalmologic features, including diplopia, infraorbital hypoesthesia, ophthalmoplegia, and enophthalmos, were compared. At 1, 3, 6, and 12 months, respectively, there were fewer patients with postoperative ophthalmologic complications in the study group (italicized; n = 29) compared with the control group (n = 29; P < 0.05): 12/29 (41%) versus 21/29 (72%), 8/29 (28%) versus 19/29 (66%), 5/29 (17%) versus 15/29 (52%), and 2/29 (7%) versus 12/29 (41%). For objective assessment, using the Kolibri workstation, operative plans were created and fused with postoperative computed tomographic scans. Vertical distances between the actual reconstructed and planned orbital floors were measured. On average, the vertical distance measured from the boundaries of floor defects for patients in the study group was 3.24 mm (95% confidence interval, 1.56-4.91) lower than the control group (P = 0.001). In conclusion, navigation minimizes postoperative complications, reduces the need for repeat procedures, and helps surgeons with planning, execution, and postoperative assessment.
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PMID:Computer-assisted navigational surgery improves outcomes in orbital reconstructive surgery. 2297 63

Diplopia is a frequent neuro-ophthalmologic symptom with diverse etiologies. This article describes elementary diagnostic tests and frequent causes of diplopia. Monocular diplopia persists when the other eye is closed and usually disappears when the patient looks through a pinhole. It is usually caused by errors in the optical media of the eye and has to be differentiated from spectacle-induced side effect and non-organic disorders. A sign of non-organic etiology is absence of change in image position when the head is tilted. Binocular diplopia disappears regardless of which eye is closed. Binocular diplopia occurs when the images of both eyes cannot be fused. The most frequent direct cause of diplopia is acquired strabismus. Knowledge of several specific types of strabismus enables efficient patient management. Congenital and decompensating strabismus like accommodative esotropia, pathophoria, strabismus surso- and deorsoadductorius, retraction syndrome, Brown's syndrome and esotropia in high myopia only need ophthalmologic treatment. Orbital injury, orbital tumor, ocular myositis, Graves orbitopathy and vascular disease usually require multidisciplinary management. Neurogenic paresis, superior oblique myokymia, ocular neuromyotonia, myasthenia, chronic progressive external ophthalmoplegia (CPEO), internuclear ophthalmoplegia (INO) and skew deviation require specific neurologic examination. Treatment of diplopia includes treatment of the fundamental disorder, monocular occlusion, prisms and strabismus surgery.
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PMID:How to deal with diplopia. 2298 79