[Measurement of retinal nerve fiber layer thickness in Leber hereditary optic neuropathy by optical coherence tomography].

OBJECTIVE: To evaluate retinal nerve fiber layer (RNFL) thickness in patients and unaffected carriers of Leber hereditary optic neuropathy (LHON) by optical coherence tomography (OCT). METHODS: This case-control study enrolled 42 LHON maternal family members with mitochondrial DNA G11778A mutation and 100 normal volunteers. RNFL thickness was measured by Stratus OCT in each participant. Mean RNFL thickness of each quadrant, as well as 360° average were calculated and compared in normal controls, LHON carries and LHON patients. RESULTS: Among LHON maternal family members, 15 cases were unaffected carriers who were subgrouped as normal-fundus-appearing carriers (10 cases) and preclinical carriers (5 cases). Twenty seven LHON patients included 9, 5, and 13 cases in the early, advancing and advanced stages, respectively. Normal fundus-appearing carriers showed normal RNFL thickness of each quadrant and 360° average. Preclinical carriers and early-staged patients showed no significant difference in RNFL thickness of each quadrant and 360° average (P = 0.138 to 0.645), yet both showed thicker RNFL in temporal, superior and inferior quadrant, as well as 360° average, if compared with normal controls (P = 0.000 to 0.018). Compared with normal controls, preclinical carriers and early-staged patients, advancing LHON patients showed thinner RNFL in temporal and inferior quadrant, as well as 360° average (P = 0.000 to 0.005). Advanced LHON patients showed thinner RNFL in each quadrant and 360° average, compared with normal controls, LHON carriers, and advancing cases (P = 0.000 to 0.037). CONCLUSIONS: RNFL thickness in LHON patients and unaffected carriers was characterized by OCT in this study, which would improve the understanding of the natural course of LHON.

The safety and efficacy of tPA intravenous thrombolysis for treating acute ischemic stroke patients with a history of cerebral hemorrhage.

Alteplase (tPA) intravenous thrombolysis is an effective treatment for acute ischemic stroke (AIS) when administered within 4.5 h of initial stroke symptoms. Here, its safety and efficacy were evaluated among AIS patients with a previous history of cerebral hemorrhage. Patients who arrived at the hospital within 4.5 h of initial stroke symptoms and who were treated with tPA intravenous thrombolysis or conventional therapies were analyzed. The 90-day modified Rankin scale (90-d mRS) was used alongside mortality and incidence of symptomatic intracerebral hemorrhage (SICH) rates to evaluate the curative effect of these therapies. Among 1,694 AIS patients, 805 patients were treated with intravenous thrombolysis, including patients with (n=793) or without (n=12) a history of cerebral hemorrhage, and the rate of incidence of SICH significantly differed between them (8.3 vs 4.3%, P=0.039). No significant difference was found in 90-d mRS measurements (41.7 vs 43.6%, P=0.530) and 90-d mortality rates (8.3 vs 6.5%, P=0.946). A total of 76 AIS patients with a history of cerebral hemorrhage received tPA thrombolytic therapy (n=12) or conventional therapy (n=64), and a significant difference was noted in the 90-d mRS scores between the two groups (41.7 vs 23.4%, P=0.029), while no significant difference was found in SICH measurements (8.3 vs 4.6%, P=0.610) and 90-d mortality rates (8.3 vs 9.4%, P=0.227). A history of cerebral hemorrhage is not an absolute contraindication for thrombolytic therapy; tPA intravenous thrombolysis does not increase SICH measurements and mortality rates in patients with a history of cerebral hemorrhage, and they may benefit from thrombolytic therapy.

[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].

To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c. 1286delC) in exon 11 was identified. Compared with the normal product of PAX6 gene, this mutation caused frame shifting, and generated a novel 55 amino acid peptide from codon 309. This deletion also resulted in a premature termination codon (PTC) and preterminated peptide synthesis. Meanwhile, this mutation was absent in all the unaffected family members and 50 normal control individuals through PCR-RFLP.

The safety and efficacy of tPA intravenous thrombolysis for treating acute ischemic stroke patients with a history of cerebral hemorrhage

Alteplase (tPA) intravenous thrombolysis is an effective treatment for acute ischemic stroke (AIS) when administered within 4.5 h of initial stroke symptoms. Here, its safety and efficacy were evaluated among AIS patients with a previous history of cerebral hemorrhage. Patients who arrived at the hospital within 4.5 h of initial stroke symptoms and who were treated with tPA intravenous thrombolysis or conventional therapies were analyzed. The 90-day modified Rankin scale (90-d mRS) was used alongside mortality and incidence of symptomatic intracerebral hemorrhage (SICH) rates to evaluate the curative effect of these therapies. Among 1,694 AIS patients, 805 patients were treated with intravenous thrombolysis, including patients with (n=793) or without (n=12) a history of cerebral hemorrhage, and the rate of incidence of SICH significantly differed between them (8.3 vs 4.3%, P=0.039). No significant difference was found in 90-d mRS measurements (41.7 vs 43.6%, P=0.530) and 90-d mortality rates (8.3 vs 6.5%, P=0.946). A total of 76 AIS patients with a history of cerebral hemorrhage received tPA thrombolytic therapy (n=12) or conventional therapy (n=64), and a significant difference was noted in the 90-d mRS scores between the two groups (41.7 vs 23.4%, P=0.029), while no significant difference was found in SICH measurements (8.3 vs 4.6%, P=0.610) and 90-d mortality rates (8.3 vs 9.4%, P=0.227). A history of cerebral hemorrhage is not an absolute contraindication for thrombolytic therapy; tPA intravenous thrombolysis does not increase SICH measurements and mortality rates in patients with a history of cerebral hemorrhage, and they may benefit from thrombolytic therapy.