Objective: To study the distribution of septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) in the Greater Manchester and Lancashire (GM&L) region of Northwest England, and to analyze occurrence by locati...Objective: To study the distribution of septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) in the Greater Manchester and Lancashire (GM&L) region of Northwest England, and to analyze occurrence by location and over time. Study design: A population-based incidence study was undertaken for cases of SOD/ONH from GM&L. Standardized incidence ratio (SIR) for each district, relationships between SIRs and possible geographically varying risk factors, and spatial and space-time clustering were analyzed. Results: Eighty-seven cases had a confirmed diagnosis of ONH/SOD giving an incidence of 10.9/100,000 per year in GM&L. SIRs ranged widely but were significantly elevated (lower confidence limit > 100) in three districts: 167%, 192%, and 198%, respectively. All three were high population density, inner-city locations. SIRs were significantly correlated with higher rates of unemployment (r=0.49, P= .01), dependent children in nonearning households (r= 0.47, P= .02), underage conceptions (r= 0.46, P= .02), and underage pregnancies (r=0.44, P= .03). There was no evidence of spatial or space-time clustering. Conclusions: The incidence of ONH/SOD in GM&L was higher than that reported elsewhere. Cases were more common in areas that had higher unemployment and teenage pregnancy rates.展开更多
神经纤维瘤病(neurofibromatosis,NF)是一种不完全外显的常染色体显性遗传病,表现为全身多器官、多系统的神经纤维结节性病变,可引起皮肤、骨骼、内脏等损伤和功能障碍,也有表现为颅内肿瘤、皮质畸形,有癫痫、学习障碍、发育异常、精神...神经纤维瘤病(neurofibromatosis,NF)是一种不完全外显的常染色体显性遗传病,表现为全身多器官、多系统的神经纤维结节性病变,可引起皮肤、骨骼、内脏等损伤和功能障碍,也有表现为颅内肿瘤、皮质畸形,有癫痫、学习障碍、发育异常、精神异常等症状[1,2]。美国国立卫生研究院(National Institutes of Health,NIH)在基因研究的基础上于1987年提出将神经纤维瘤病分为Ⅰ型和Ⅱ型。Ⅱ型以中枢神经系统受累为主,表现为听神经瘤(双侧)、脑膜瘤、胶质瘤等,较少见。Ⅰ型即von Recklinghausen病,占90%,以多发性皮肤神经纤维瘤和皮肤色素斑、虹膜色素结节为特征,少数可恶变,头颈部症状表现为三叉神经、面神经和颈部皮神经分布区域的神经纤维瘤,此外,眶颞区、舌亦好发[3],咽侧、食管、鼻-鼻窦等部位也有报道,而累及喉部的报道罕见。2018年11月,我科收治喉部神经纤维瘤病1例,报道如下。展开更多
文摘Objective: To study the distribution of septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) in the Greater Manchester and Lancashire (GM&L) region of Northwest England, and to analyze occurrence by location and over time. Study design: A population-based incidence study was undertaken for cases of SOD/ONH from GM&L. Standardized incidence ratio (SIR) for each district, relationships between SIRs and possible geographically varying risk factors, and spatial and space-time clustering were analyzed. Results: Eighty-seven cases had a confirmed diagnosis of ONH/SOD giving an incidence of 10.9/100,000 per year in GM&L. SIRs ranged widely but were significantly elevated (lower confidence limit > 100) in three districts: 167%, 192%, and 198%, respectively. All three were high population density, inner-city locations. SIRs were significantly correlated with higher rates of unemployment (r=0.49, P= .01), dependent children in nonearning households (r= 0.47, P= .02), underage conceptions (r= 0.46, P= .02), and underage pregnancies (r=0.44, P= .03). There was no evidence of spatial or space-time clustering. Conclusions: The incidence of ONH/SOD in GM&L was higher than that reported elsewhere. Cases were more common in areas that had higher unemployment and teenage pregnancy rates.
文摘神经纤维瘤病(neurofibromatosis,NF)是一种不完全外显的常染色体显性遗传病,表现为全身多器官、多系统的神经纤维结节性病变,可引起皮肤、骨骼、内脏等损伤和功能障碍,也有表现为颅内肿瘤、皮质畸形,有癫痫、学习障碍、发育异常、精神异常等症状[1,2]。美国国立卫生研究院(National Institutes of Health,NIH)在基因研究的基础上于1987年提出将神经纤维瘤病分为Ⅰ型和Ⅱ型。Ⅱ型以中枢神经系统受累为主,表现为听神经瘤(双侧)、脑膜瘤、胶质瘤等,较少见。Ⅰ型即von Recklinghausen病,占90%,以多发性皮肤神经纤维瘤和皮肤色素斑、虹膜色素结节为特征,少数可恶变,头颈部症状表现为三叉神经、面神经和颈部皮神经分布区域的神经纤维瘤,此外,眶颞区、舌亦好发[3],咽侧、食管、鼻-鼻窦等部位也有报道,而累及喉部的报道罕见。2018年11月,我科收治喉部神经纤维瘤病1例,报道如下。
