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The turn to controls and the refinement of the concept of hereditary burden: The 1895 study of Jenny Koller.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2020-08-28 , DOI: 10.1002/ajmg.b.32819
Kenneth S Kendler 1, 2 , Astrid Klee 3
Affiliation  

Throughout the 19th century, many alienists reported the proportion of their patients who were “hereditarily burdened,” meaning they had a positive family history for mental illness. The rates of such burden differed widely because different authors used divergent definition of illness and investigated different groups of relatives. Most importantly, no authors compared rates of burden with those seen in a nonpatient control group. The first such study in the history of psychiatric genetics was published in 1895, the doctoral dissertation of a Swiss physician Jenny Koller working under Auguste Forel. She obtained histories of a range of mental/neurologic disorders in the parents, aunts/uncles, grandparents and siblings of 370 hospitalized psychiatric patients and 370 controls. Rates of any hereditary burden were only modestly higher in cases (78%) than controls (59%). However, when examining individual syndromes, only major mental illness and eccentricities, but not apoplexy, nervous disorders or dementia, were more common in proband than control families. Furthermore, the rates of mental illness and eccentricities were substantially elevated in the first‐degree relatives of cases versus controls but not in the second‐degree relatives. Koller's study represented a major methodological advance in psychiatric genetics, helping to define which disorders coaggregated with major mental illness.

中文翻译:

转向控制和遗传负担概念的完善:1895年对珍妮·科勒的研究。

在整个19世纪,许多外星人都报告说他们的患者“承受了巨大的负担”,这意味着他们有积极的精神疾病家族病史。这种负担的比率差异很大,因为不同的作者使用不同的疾病定义并调查了不同的亲属群体。最重要的是,没有作者将负担率与非患者对照组的负担率进行比较。精神遗传学史上的第一项此类研究发表于1895年,这是由瑞士医生珍妮·科勒(Jenny Koller)撰写的博士学位论文,由奥古斯特·佛雷尔(Auguste Forel)领导。她获得了370名住院精神病患者和370名对照患者的父母,姨妈/叔叔,祖父母和兄弟姐妹的一系列精神/神经系统疾病的病史。病例中任何遗传负担的发生率(78%)仅比对照组(59%)高。但是,在检查个体综合症时,先证者较重度家庭只有较严重的精神疾病和怪癖,而不是中风,神经障碍或痴呆。此外,与对照相比,病例一级亲属的精神疾病和怪异率大大提高,而二级亲属则没有。Koller的研究代表了精神病学遗传学方法学的重大进步,有助于确定哪些疾病与主要精神疾病共存。与对照相比,病例一级亲属的精神疾病和怪异率显着提高,而二级亲属则没有。Koller的研究代表了精神遗传学方法学的重大进步,有助于确定哪些疾病与主要精神疾病共存。与对照相比,病例一级亲属的精神疾病和怪异率显着提高,而二级亲属则没有。Koller的研究代表了精神病学遗传学方法学的重大进步,有助于确定哪些疾病与主要精神疾病共存。
更新日期:2020-09-11
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