BackgroundMicrophthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient.MethodsComplete ophthalmologic examinations were performed for the proband and proband's family members. Whole exon sequencing (WES) and Sanger sequencing were used to identify the mutated genes, and bioinformatic analysis was undertaken to predict the effect of this variant.ResultsClinical analysis showed that the proband had reduced axial length (17.95 and 17.98 mm) with normal-size corneas and shallow anterior chamber depth. Fundus photography showed scattered yellowish-white spots in the whole retina with cup-to-disc ratios of 0.95 in both eyes. Retinoschisis in the inner nuclear layer and reduced outer retina thickness were apparent on OCT examination, and optic nerve drusen demonstrated increased autofluorescence in fundus autofluorescence (FAF). Perimeter examination revealed a tubular visual field for the right eye, and electroretinography (ERG) revealed a moderately reduced rod response combined with compromised cone response. Ocular examinations of the patient's family members were unremarkable. WES revealed that the proband had homozygous mutations in c.55-1 (IVS1) G>A in intron 1 for the MFRP gene. Both the proband's parents and offspring were confirmed to be heterozygous by Sanger sequencing. Bioinformatic analysis showed this mutation was deleterious.ConclusionWe reported autosomal recessive posterior microphthalmia, atypical retinitis pigmentosa, and retinoschisis caused by a novel mutation in the MFRP gene in this consanguineous marriage family. Our study further broadens the mutation and phenotype spectrum of the MFRP gene in microphthalmia.
AimsWhether endovascular treatment (EVT) can further improve the prognosis of patients with posterior circulation ischemic stroke (PCIS) is unclear. This meta-analysis aims to compare the efficacy and safety of PCIS patients treated with EVT plus standard medical treatment (SMT) and SMT alone.MethodsWe systematically searched for relevant randomized controlled trials (RCTs) and prospective cohort trials in MEDLINE, EMBASE, and the Cochrane Library up to February 2022. The primary outcome was favorable functional outcome of the modified Rankin Scale (mRS) with scores of 0–2 or 0–3; secondary outcomes included successful recanalization rate, intracranial hemorrhage (ICH), or symptomatic intracranial hemorrhage (sICH) after treatment and 90-day mortality.ResultsWe identified six studies including 1, 385 PCIS patients (957 with EVT plus SMT; 428 with SMT alone). EVT plus SMT substantially improved 90-day functional outcomes compared with SMT alone [mRS score of 0–2: RR=1.95, 95% CI (1.52 – 2.51), P < 0.001; mRS score of 0–3: RR = 1.85, 95% CI (1.49 – 2.30), P < 0.001, respectively]. Moreover, compared with SMT, combined treatment significantly improved the rate of successful recanalization [RR = 5.03, 95% CI (3.96–6.40), P < 0.001] and reduced 90-day mortality [RR = 0.71, 95% CI (0.63–0.79), P < 0.001] despite a higher risk of ICH [RR = 6.13, 95% CI (2.50–15.02), P < 0.001] and sICH [RR = 10.47, 95% CI [2.79–39.32), P = 0.001].ConclusionLow-to-moderate evidence from RCTs and non-RCTs showed that increased ICH and sICH risk of EVT plus SMT did not translate to a higher risk of unfavorable outcomes compared with SMT and could even promote independence at 90 days in a real-world cohort.
Background: Clopidogrel combined with aspirin in antiplatelet therapy is the first-line clinical regimen for cardiovascular diseases. The CYP2C19 gene influences the absorption and metabolism of clopidogrel and its polymorphisms affect antiplatelet therapy drug efficacy, which may lead to adverse events including stent thrombosis and haemorrhage. The main objective of this study was to explore the impact of CYP2C19 polymorphisms on adverse events in cardiovascular disease patients.Methods:We recruited 350 patients taking clopidogrel and performed CYP2C19 genotype testing. Adverse event information was collected through telephone follow-up. According to CYP2C19 genotype results, patients were divided into three groups: poor metabolism (PM) group, extensive metabolism (EM) group and intermediate metabolism (IM) group. The number of adverse events was compared between the three groups using the chi-squared test and the onset time of adverse events was analysed using the log-rank test. The main factors affecting adverse events were analysed using binary logistic analysis.Results: In total, 326 patients were included in the analysis: 143 patients were in the EM group, 129 patients were in the IM group and 54 patients were in the PM group. In this cohort, 127 adverse events were noted, which occurred in 88 patients. There was no significant difference in the occurrence of adverse events between the EM group and PM group (P=0.185). The median survival times of adverse events in the EM, IM and PM groups were 112 days, 137.5 days and 169 days, respectively, with no significant differences between the three groups (P=0.8713).Conclusion:We found that CYP2C19 polymorphisms were not necessarily associated with adverse events in patients with cardiovascular diseases taking clopidogrel. Rather, the main factors influencing the occurrence of adverse events were concomitant diseases such as hypertension, diabetes and hyperlipidaemia.
Rationale: Angle-closure glaucoma secondary to iridocorneal endothelial syndrome (ICE) is challenging to treat, especially in patients who have already undergone multiple surgical procedures. Long-term success is difficult to achieve with traditional filtration surgery again. This case report describes a novel nonbleb-dependent surgery for managing such a young patient. Patient concerns: A 30-year-old male with glaucoma secondary to ICE was referred to West China Hospital, Sichuan University for uncontrolled intraocular pressure following multiple failed filtering surgeries under maximum topical antiglaucoma medications in his right eye. Diagnoses: The patient was diagnosed with angle-closure glaucoma secondary to ICE in the right eye based on a series of ophthalmic examinations. Interventions: Penetrating canaloplasty was performed to manage glaucoma secondary to ICE in the right eye. Outcomes: The patient’s visual acuity improved, the intraocular pressure was reduced to 11 to 15 mm Hg through 30 months of follow-up, and no antiglaucoma medication or additional surgical procedures were needed. Lessons: Penetrating canaloplasty could be considered as an option for the treatment of refractory angle-closure glaucoma secondary to ICE with extensive angle adhesion.
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