RESUMO
OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls. STUDY DESIGN: Case-control studies. METHODS: Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. RESULTS: In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 4.0 (P = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 2.6 (P = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals. CONCLUSIONS: These findings support the role of ACSS2 in NSCLP in two independent Hispanic populations from Honduras and Colombia. LEVEL OF EVIDENCE: NA Laryngoscope, 127:E336-E339, 2017.
Assuntos
Acetato-CoA Ligase/genética , Encéfalo/anormalidades , Fenda Labial/genética , Fissura Palatina/genética , Acetato-CoA Ligase/sangue , Estudos de Casos e Controles , Pré-Escolar , Fenda Labial/sangue , Fissura Palatina/sangue , Colômbia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Honduras , Humanos , Masculino , Razão de Chances , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodosRESUMO
We report a case of an 83-year-old gentleman presenting with acute low back pain and radicular left lower extremity pain after golfing. A magnetic resonance imaging (MRI) of the lumbar spine revealed a low-signal-density lesion compressing the L5 nerve. A computed tomography scan was then ordered, confirming an extra-foraminal disc protrusion at the L5-S1 level, containing a focus of gas that was compressing the left L5 nerve root and communicating with the vacuum disc at L5-S1. After a failed left L5 transforaminal epidural steroid injection, the patient was brought back for a percutaneous intradiscal aspiration of the vacuum disc gas. This resulted in immediate relief for the patient. A follow-up MRI performed 2 months after the procedure found an approximate 25% reduction in the size of the vacuum disc herniation. Six months after the procedure, the patient remains free of radicular pain. This case report suggests that a percutaneous aspiration of gas from a vacuum disc herniation may assist in the treatment of radicular pain.
