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Biomedical subjects

R Huna-Baron

Publications and source records attributed to R Huna-Baron.

8 recordsLinked to original sources

Unilateral swollen disc due to increased intracranial pressure.

Truly unilateral papilledema is rare and poses a diagnostic problem. The authors have prospectively looked for patients with truly unilateral papilledema and found 15 patients, 10 of whom had idiopathic intracranial hypertension. Neuroimaging did not indicate a reason for the lack of swelling in the other nerve. The visual deficits and outcomes were similar to those of patients with bilateral papilledema. Although monocular papilledema is uncommon, a lumbar puncture with opening pressure measurement should be considered.

Adolescent↗

Thrombophilia as a cause for central and branch retinal artery occlusion in patients without an apparent embolic source.

PURPOSE: To assess the prevalence of vascular risk factors and thrombophilias in central and branch retinal artery occlusion in patients in whom an embolic source is not apparent. METHODS: The study group consisted of 21 consecutive patients with retinal artery occlusion (RAO) in whom Doppler ultrasonography of the carotid arteries and transthoracic or transoesophageal echocardiography were normal. Laboratory methods included polymerase chain reaction for detection of factor V G1691A, factor II G20210A and methylentetrahydrofolate reductase C677T mutations, assays of plasma levels of protein C, free protein S, antithrombin, fibrinogen and homocysteine; and tests for the presence of lupus anticoagulant and anticardiolipin antibodies. Controls for the laboratory tests were 243 healthy subjects. RESULTS: Nine of the 21 (43%) patients had at least one thrombophilic marker: 4 were homozygous for MTHFR C677T, 1 was heterozygous for factor V G1691A, 1 had a high titre of IgM anticardiolipin, 2 were heterozygous for factor V G1691A and homozygous for MTHFR C677T, and 1 had lupus anticoagulant, a high titre of IgM anticardiolipin, homozygosity for MTHFR C677T and hyperhomocysteinaemia. An interaction between vascular risk factors and thrombophilias seemed important since out of 14 patients with hypertension, diabetes and/or hypercholesterolaemia 7 (50%) had a thrombophilia. Homozygous MTHFR C677T was a significant risk factor with odds ratio of 3.18 (95% CI 1.20-8.47). The prevalence of factor V G1691A was also higher in the RAO patients versus controls with an odds ratio of 2.36 (95% CI 0.63-8.88), but this value did not reach significance, probably due to the small sample size. CONCLUSION: A search for thrombophilia in RAO is advisable in patients without evident source of emboli even when vascular risk factors are identified.

Acute Disease↗

The role of angiotensin converting enzyme and angiotensin II type 1 receptor gene polymorphisms in patients with nonarteritic anterior ischemic optic neuropathy.

OBJECTIVE: To determine the role of angiotensin converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R) polymorphisms in the pathogenesis of nonartertic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective, case-control study. PARTICIPANTS: Seventy-four patients with NAION diagnosed from 1984 through 1999. Seventy-one patients who visited the Eye Institute comprised the control group. TESTING INTERVENTION: DNA was extracted from whole blood obtained from all patients and control participants. Polymerase chain reaction (PCR) was used for analysis of ACE and AT1R polymorphisms. RESULTS: The frequency of the polymorphism for ACE among the NAION patients (39.2% deletion allele [DD], 54.0% deletion/insertion [D/I] locus, 6.8% insertion allele [II]) was similar to that of the control group (50.7% DD, 39.4% D/I, 9.9% II), with P = 0.21. The frequency of the polymorphism of AT1R in the NAION patients was 5.4% CC, 44.6% CA, 50% AA, and in the control group it was 4.2% CC, 33.8% CA, 62.0% AA, with P = 0.35. Participants less than 55 years of age and those more than 55 had quite similar distributions. CONCLUSIONS: Angiotensin converting enzyme and AT1R polymorphisms have no part in the mechanism of NAION. Thus drugs such as ACE inhibitors or AT1R antagonists are not specifically indicated for treatment of these patients.

Adult↗

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation.

AIMS: Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed. METHODS: Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM. RESULTS: In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention. CONCLUSION: A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.

Aged↗

Analysis of prothrombotic and vascular risk factors in patients with nonarteritic anterior ischemic optic neuropathy.

OBJECTIVE: To determine whether genetic or acquired thrombophilias and other risk factors are associated with nonarteritic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective case-control study. PARTICIPANTS: Sixty-one patients with NAION diagnosed between 1984 and 1997. Ninety consecutive patients who visited the Eye Institute made up the control group. INTERVENTION: Protein C, protein S, antithrombin III, lupus anticoagulant, and three recently described prothrombotic polymorphisms (i.e., factor V G1691A, factor II G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T) were analyzed. In addition, risk factors for arteriosclerotic vascular disease were assessed. MAIN OUTCOME MEASURES: Parameters of thrombophilia. RESULTS: None of the thrombophilic markers (genetic and acquired) constituted a significant risk factor for NAION. Ischemic heart disease, hypercholesterolemia, and diabetes mellitus were discerned as risk factors for NAION with odds ratios of 2.9 (95% confidence interval [CI], 1.3-6.4), 2.6 (95% CI, 1.2-5.5), and 2.3 (95% CI, 1.1-4.8), respectively. Multiple logistic regression analysis indicated that ischemic heart disease and hypercholesterolemia exerted an additive risk for NAION with a combined odds ratio of 4.5 (95% CI, 1.4-14.5). However, none of these risk factors statistically predicted second eye involvement. CONCLUSION: NAION was not found to be associated with thrombophilic risk factors, yet it was related to ischemic heart disease, hypercholesterolemia, and diabetes mellitus.

Adult↗

Role of aspirin in reducing the frequency of second eye involvement in patients with non-arteritic anterior ischaemic optic neuropathy.

PURPOSE: To retrospectively evaluate in patients with non-arteritic ischaemic optic neuropathy (NAION) whether aspirin reduces the frequency of second eye involvement. METHODS: In 52 patients who presented with NAION between 1984 and 1997 adequate information was available regarding use of aspirin, presence of risk factors and second eye involvement. RESULTS: Second eye involvement was noted in 8 of 16 patients (50%) who did not receive aspirin, in 3 of 8 patients (38%) who received 100 mg/day aspirin and in only 5 of 28 patients (18%) who received aspirin 325 mg/day. Moreover, mean time to second eye involvement was 63 months in patients who did not receive aspirin versus 156 months in patients who received aspirin 325 mg/day. CONCLUSION: Our results strongly suggest that aspirin at 325 mg/day may be effective in reducing the frequency of second eye involvement with NAION.

Adult↗

Infantile cerebral aneurysms with visual pathway compression.

Intracranial aneurysms are rare in infancy. The commonest presentation is intracranial hemorrhage, but signs of mass effect are more frequent than in adults. We report 2 infants with cerebral aneurysms, one presenting with macrocephaly and another with strabismus. Both had visual loss and optic disc pallor; MRI revealed a suprasellar mass and anterior visual pathway compression. In both cases, the preoperative diagnosis was craniopharyngioma. It is essential to recognize that, although exceedingly uncommon, cerebral aneurysms do occur in infants and have features that differ from those in adults.

Calcinosis↗