Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.
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PMID:Prevalence and mode of inheritance of major genetic eye diseases in China. 350 Mar 13

Thiamine deficiency in the monkey is the animal counterpart of Wernicke's disease in humans. In the present study, thiamine deficiency was induced in 11 monkeys while three monkeys were given paired feedings supplemented by thiamine hydrochloride and three monkeys were maintained on regular chow. The typical clinical symptoms were apathy, inattention to peripheral stimuli, ataxia, ptosis, mydriasis progressing to pupillary areflexia, nystagmus, and ophthalmoparesis progressing to total ophthalmoplegia. With thiamine treatment, recovery was prompt and complete in mild to moderate cases but delayed and incomplete in severe cases. The animals were killed six or more months after discontinuance of the experiments to determine the chronic effects of treated thiamine deficiency. The significant abnormalities in the brain stem were symmetric gliosis and neuronal loss in the inferior colliculi, the regions of the third and sixth nerve nuclei, and the medial vestibular nuclei. White matter was characteristically spared. With the exception of the inferior colliculi, the target sites for neuropathologic changes were the centers for ocular motor control.
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PMID:Ocular signs in thiamine-deficient monkeys and in Wernicke's disease in humans. 402 52

A 17 year old high school boy experienced fever and diarrhea, which subsided within 4 days by appropriate medications. Six days later, however, he developed unsteadiness and limb spasm. On the morning of admission, he was found to have drowsiness, dysarthria, gait disturbance and involuntary jerks. When he was brought to the hospital, he was lethargic but could follow simple verbal commands. Frequent involuntary movements manifested by facial grimacings, limb spasms and twitchings with dystonic features were seen. Decorticate posturing was readily elicited by painful stimuli. There was no meningeal irritation sign or gross sensory impairment. The deep tendon reflexes were symmetrically exaggerated with bilateral Babinski signs. Bilateral lateral rectus muscle weakness was found together with mild ptosis and upward gaze limitation. Nystagmus was not present and the funduscopic examination was normal. Immediately he was placed on anticonvulsants, steroid hormone, gamma-globulin and antibiotics as well. A brain CT scan and a CSF examination revealed no abnormality. Meanwhile he continued to show a progressive deterioration associated with fever and status epilepticus, and within 24 hours he lapsed into coma in decorticate posture. An EEG obtained at the 3rd hospital day was compatible with spindle coma. In spite of aggressive treatment he remained febrile and comatous. Therefore, vidarabine (adenine arabinoside) was initiated from the 3rd hospital day for 5 days. Then he began to groan and show frequent choreic movements. For the subsequent 2 weeks he made a slow recovery.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of brain stem encephalitis with complete recovery (Bickerstaff's encephalitis)]. 620 73

We describe a patient with an isolated mesencephalic dorsal tegmental infarct affecting the oculomotor nuclear complex and medial longitudinal fasciculus, documented by high-resolution computed tomography, after undergoing percutaneous transluminal coronary artery angioplasty. Clinically, the patient exhibited bilateral ptosis, bilateral internuclear ophthalmoplegia, transient convergence retractory nystagmus, and minimal somnolence. We believe the combined clinical and radiological findings favor the presence of a caudal, dorsal, and paramedian embolic infarct in the territory of the paramedian branches of the mesencephalic artery as the most likely mechanism for these exceptional findings and correlate them with Warwick's scheme of the oculomotor subnuclei.
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PMID:Oculomotor nuclear complex infarction. Clinical and radiological correlation. 647 33

We performed complete ophthalmological examinations of 30 consecutive patients with Turner syndrome. Twenty-three had 45XO and 7 had 45XO/46XX karyotypes (mosaicism). Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients. Other eye findings included ptosis (16%), hypertelorism (10%), epicanthus (10%), and antimongoloid slants (10%). Red-green color deficiency was found in 10% of the patients. One patient had congenital periodic alternating nystagmus.
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PMID:Ocular findings in Turner syndrome. A prospective study. 649 1

Two cases of myasthenic pseudointernuclear ophthalmoplegia are reported. The diagnosis of this rare peripheral oculomotor syndrome is established on the variability of the clinical signs, their improvement by pharmacological testing, the combined impairment of convergence, the usual association of ptosis, and in some cases the presence of specific electromyographic signs. The nystagmus of the abducting eye could result from a selective damage to the tonic muscle fibres mediating fixation, the phasic fibres (performing saccades) being spared.
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PMID:[Myasthenic internuclear pseudo-ophthalmoplegia]. 664 6

Congenital ocular toxoplasmosis is a significant cause of blindness. Retinochoroiditis is the most common finding, but other ocular manifestations include microphthalmus, nystagmus, strabismus, and ptosis. The serologic tests and lymphocyte stimulation test are the most useful aids in making the diagnosis. Pyrimethamine, sulfonamides, and corticosteroids are useful to treat active lesions. Primary care physicians, obstetricians, and ophthalmologists may help to prevent transmission of the disease and its serious ocular sequelae.
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PMID:Congenital ocular toxoplasmosis. 682 9

Eye movements in a patient with Fisher's syndrome were examined clinically and documented photographically when palsies were most severe and on repeated occasions during the recovery period. Two recordings of horizontal eye movements were made using the infrared reflection method. Particular attention was paid to signs indicating supranuclear eye movement disorders. We also reviewed cases in which signs suggesting brain-stem involvement were reported. Mild ptosis in the presence of severe ophthalmoplegia, preservation of Bell's phenomenon despite paralysis of voluntary upward gaze, conjugate palsies of vertical gaze, and horizontal dissociated nystagmus have been found relatively often. Convergence spasm was reported only once, however, and there were no prior reports of rebound nystagmus or vertical vestibulo-ocular reflex disorder.
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PMID:Supranuclear eye movement disorders in Fisher's syndrome of ophthalmoplegia, ataxia, and areflexia. Report of a case and literature review. 686 Jan 74

The history of a family with aniridia (11 patients) is presented. Morphologically the following changes were found: Ptosis, microcornea, anterior embryotoxon, defects of the iris ranging from corectopia and coloboma to hypoplasia of the iris and clinical aniridia cataracts and hypoplasia of the fovea. Functionally there was reduced visual acuity (best vision 0.2), nystagmus and strabismus. Dark adaptation, electrooculogram, photopic and scotopic electroretinogram were within normal limits. The patients were found to have a red-green color vision deficiency, which was perhaps caused by foveal hypoplasia and nystagmus, and a trito defect which could not be explained.
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PMID:[Morphological and functional findings in a family with aniridia (author's transl)]. 697 63

A nine-week-old Caucasian male presented with right ptosis and right exotropia due to a third cranial nerve palsy. Symmetrical macular lesions and a paramacular hyperpigmented lesion with overlying vitreous cells in the left eye were compatible with congenital toxoplasmosis. Computer tomography demonstrated calcifications in the periventricular and midbrain regions where the oculomotor nerve exits the brainstem. The diagnosis was confirmed by the toxoplasma indirect fluorescent antibody titer greater than 1:2048 for the infant and greater than 1:512 for the mother. Treatment was instituted with pyrimethamine, sulfadiazine and folinic acid. Neurologic sequelae included a right hemiparesis, infantile seizures, and generalized developmental delay. A Mueller's muscle resection (RUL) combined with 9-mm recession of the right lateral rectus and 7-mm resection of the right medial rectus muscles produced minimal ptosis and right exotropia one year later. the child now prefers to fix with the right eye and a vertical nystagmus is evident in the left eye. To our knowledge this is the first reported case of an infant with noncomitant strabismus due to congenital toxoplasma cranial nerve involvement. The finding of an acquired third cranial nerve palsy accompanied by progressive neurologic sequelae warrants consideration of congenital toxoplasmosis.
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PMID:Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. 717 24


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