Human Mutation / 2024 / Article / Tab 1 / Research Article
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease Table 1 Summary of demographics, clinical presentation, and perioperative complication.
Baseline characteristics No. of cases or value Gender Male 130 (50.19%) Female 129 (49.81%) Age at onset (years) 8 (6, 12) Onset type TIA 149 (57.53%) Infarction 53 (20.46%) Hematoma 12 (4.63%) Headache 18 (6.95%) Epilepsy 9 (3.47%) Other 18 (6.95%) Follow-up 7.73 (6.88, 8.52) Onset → operation 7.4 (2.42, 25.28) p.R4810K genotypes AA 4 (1.54%) GA 85 (32.82%) GG 170 (65.64%) Hyperlipidemia No 236 (91.12%) Yes 23 (8.88%) Hyperhomocysteinemia No 246 (94.98%) Yes 13 (5.02%) Family history No 245 (94.59%) Yes 14 (5.41%) Laterality Unilateral 8 (3.09%) Bilateral 251 (96.91%) Waiting infarction No 172 (66.41%) Yes 87 (33.59%) Initial mRS <2 238 (91.89%) ≥2 21 (8.11%) Final mRS <2 225 (86.87%) ≥2 34 (13.13%) PCA involvement No 188 (72.59%) Unilateral 33 (12.74%) Bilateral 38 (14.67%) Suzuki stage <IV 100 (38.61%) ≥IV 159 (61.39%) Perioperative complications No 252 (97.3%) Infarction 5 (1.93%) Hematoma 1 (0.39%) Subdural effusion 1 (0.39%) Hematoma during follow-up No 258 (99.61%) Yes 1 (0.39%) Infarction during follow-up No 251 (96.91%) Yes 8 (3.09%)
Abbreviations: TIA: transient ischemic attack; PCA: posterior cerebral artery; mRS: modified Rankin scale.