Surgical treatment of primary intramedullary spinal cord tumors in adult patients Tratamento cirúrgico de tumores intramedulares primários em adultos

BACKGROUND: Primary spinal cord intramedullary tumors are rare and present with insidious symptoms. Previous treatment protocols emphasized biopsy and radiation/chemotherapy but more aggressive protocols have emerged. OBJECTIVE: To report our experience. METHOD: Forty-eight patients were diagnosed with primary intramedullary tumors. The cervical cord was involved in 27% and thoracic in 42% of patients. Complete microsurgical removal was attempted whenever possible without added neurological morbidity. RESULTS: Complete resection was obtained in 33 (71%) patients. Neurological function remained stable or improved in 32 patients (66.7%). Ependymoma was the most frequent tumor (66.7%). CONCLUSION: Neurological outcome is superior in patients with subtle findings; aggressive microsurgical resection should be pursued with acceptable neurological outcomes.<br>INTRODUÇÃO: Tumores intramedulares primários são raros e apresentam-se com sintomas insidiosos. Protocolos de tratamento anteriores enfatizavam biópsia e radio/quimioterapia, mas protocolos mais agres-sivos têm surgido. OBJETIVO: Relatar nossa experiência. MÉTODO: Tumores intramedulares foram diagnosticados em 48 pacientes. O segmento cervical estava envolvido em 27% e torácico em 42% dos pacientes. Remoção completa foi tentada quando possível sem aumento da morbidade neurológica. RESULTADOS: Ressecção total foi obtida em 33 (71%) pacientes. Função neurológica: permaneceu inalterada/melhorou em 32 (66,7%) pacientes. O tumor mais freqüente foi ependimoma (66,7%). CONCLUSÃO: O prognóstico é melhor em pacientes oligossintomáticos; ressecção microcirúrgica agressiva deve ser tentada sempre, com resultados clínicos aceitáveis

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P &lt; 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P &lt; 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG