遗传性卵巢恶性肿瘤是卵巢恶性肿瘤的一种特殊类型,具有家族遗传倾向,通常被称为遗传性卵巢癌综合征(hereditary ovarian cancer syndrome,HOCS)。HOCS是一种常染色体显性遗传综合征,因该病累及女性生殖器官,影响患者的生育力及其子代...遗传性卵巢恶性肿瘤是卵巢恶性肿瘤的一种特殊类型,具有家族遗传倾向,通常被称为遗传性卵巢癌综合征(hereditary ovarian cancer syndrome,HOCS)。HOCS是一种常染色体显性遗传综合征,因该病累及女性生殖器官,影响患者的生育力及其子代的健康。如何识别并筛选出遗传性卵巢恶性肿瘤的高危人群,并对这些人群给予恰当的干预、生育指导和建议,从而降低患者及其子代患恶性肿瘤的风险甚至阻断致病基因的遗传具有重要意义。展开更多
遗传性肿瘤综合征(hereditary cancer syndromes,HCS)是指一类具有家族遗传倾向的特殊肿瘤类型,通常由一个或多个基因的可遗传致病性变异引起。HCS患者往往对多种肿瘤的易感性增加,肿瘤发病年龄早,并且还可出现家族内多人罹患同一器官...遗传性肿瘤综合征(hereditary cancer syndromes,HCS)是指一类具有家族遗传倾向的特殊肿瘤类型,通常由一个或多个基因的可遗传致病性变异引起。HCS患者往往对多种肿瘤的易感性增加,肿瘤发病年龄早,并且还可出现家族内多人罹患同一器官肿瘤的情况。据统计,大约5%~10%的癌症属于HCS[1],多数呈常染色体显性遗传。展开更多
心肌致密化不全(N V M),又称“海绵样心肌”,是一组以增多的肌小梁及小梁间深陷的隐窝为形态学特征的先天性疾病,有家族遗传倾向性,也可独立存在。该病临床较为少见,发病机制尚未完全明确,研究考虑与基因突变及多种遗传疾病相关。2008年...心肌致密化不全(N V M),又称“海绵样心肌”,是一组以增多的肌小梁及小梁间深陷的隐窝为形态学特征的先天性疾病,有家族遗传倾向性,也可独立存在。该病临床较为少见,发病机制尚未完全明确,研究考虑与基因突变及多种遗传疾病相关。2008年,欧洲心脏病学会将心肌致密化不全归为未分类型心肌病。展开更多
Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndr...Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndrome often has a familial component; whether the familial and non- familial forms differ in terms of clinical features has previously been investigated, with the only significant factor emerging as younger age at onset in familial cases. Our study further explores a possible underlying difference between familial and sporadic forms of RLS by comparing familial RLS with sporadic RLS in terms of demographic and clinical features including subject gender, age of onset, and severity measures based an the IRLSSG severity scale. Both gender and family history are significant predictors of onset age in an overall model and also significant when analyzed independently. Participants who reported more severe RLS symptoms were significantly younger in age and progressed more rapidly. Two variables from the IRLSSG severity scale were significantly associated with age of onset when tested independently: discomfort and the urge to move the limb for relief. Our analysis supports the prevailing hypothesis that RLS is divided into earlier onset disease with a clear genetic component and later onset disease wich unclear etiology, and that one or more endophenotypes might exist within the disorder which could further characterize these subjects for future genetic studies.展开更多
文摘遗传性卵巢恶性肿瘤是卵巢恶性肿瘤的一种特殊类型,具有家族遗传倾向,通常被称为遗传性卵巢癌综合征(hereditary ovarian cancer syndrome,HOCS)。HOCS是一种常染色体显性遗传综合征,因该病累及女性生殖器官,影响患者的生育力及其子代的健康。如何识别并筛选出遗传性卵巢恶性肿瘤的高危人群,并对这些人群给予恰当的干预、生育指导和建议,从而降低患者及其子代患恶性肿瘤的风险甚至阻断致病基因的遗传具有重要意义。
文摘遗传性肿瘤综合征(hereditary cancer syndromes,HCS)是指一类具有家族遗传倾向的特殊肿瘤类型,通常由一个或多个基因的可遗传致病性变异引起。HCS患者往往对多种肿瘤的易感性增加,肿瘤发病年龄早,并且还可出现家族内多人罹患同一器官肿瘤的情况。据统计,大约5%~10%的癌症属于HCS[1],多数呈常染色体显性遗传。
文摘Restless Legs Syndrome is characterized by the irresistible, often indescribable unpleasant urge to move the limbs while resting. It has an estimated prevalence of ～ 29.3 % in US private practice. Restless Legs Syndrome often has a familial component; whether the familial and non- familial forms differ in terms of clinical features has previously been investigated, with the only significant factor emerging as younger age at onset in familial cases. Our study further explores a possible underlying difference between familial and sporadic forms of RLS by comparing familial RLS with sporadic RLS in terms of demographic and clinical features including subject gender, age of onset, and severity measures based an the IRLSSG severity scale. Both gender and family history are significant predictors of onset age in an overall model and also significant when analyzed independently. Participants who reported more severe RLS symptoms were significantly younger in age and progressed more rapidly. Two variables from the IRLSSG severity scale were significantly associated with age of onset when tested independently: discomfort and the urge to move the limb for relief. Our analysis supports the prevailing hypothesis that RLS is divided into earlier onset disease with a clear genetic component and later onset disease wich unclear etiology, and that one or more endophenotypes might exist within the disorder which could further characterize these subjects for future genetic studies.
