Levels-of-processing effects in first-degree relatives of individuals with schizophrenia.

BACKGROUND: First-degree relatives of individuals with schizophrenia show cognitive impairments that are similar to but less severe than their ill relatives. We have shown that memory impairments can be improved and prefrontal cortical (PFC) activity increased in individuals with schizophrenia by providing beneficial encoding strategies. The current study used a similar paradigm to determine whether siblings of individuals with schizophrenia (SIBs) also show increases in brain activity when presented with beneficial encoding strategies. METHODS: Twenty-one SIBs and 38 siblings of healthy comparison subjects underwent functional magnetic resonance imaging scans while engaged in deep (abstract/concrete judgments) and shallow (orthographic judgments) encoding. Subjects were then given a recognition memory test. RESULTS: The groups did not differ on encoding or recognition accuracy, and the SIBs benefited from deep encoding to a similar degree as control subjects. The SIBs showed deep encoding-related activity in a number of PFC regions typically activated during semantic processing. However, SIBs showed more activity than control subjects in three subregions of PFC (left BA 44 & BA 47 bilaterally). CONCLUSIONS: Siblings of individuals with schizophrenia benefit from supportive verbal encoding conditions. Like individuals with schizophrenia, SIBs also show increased task-related activity in a larger number of PFC subregions than control subjects during deep verbal encoding.     

放疗肿瘤病人直系亲属陪护者心理卫生状况的调查

本文采用症状自评量表（ＳＣＬ－９０）对１６２名放疗肿瘤病人直系亲属陪护者进行了心理卫生状况的调查。结果表明：陪护病属焦虑和抑郁因子分显著高于全国常模。文化程度较高、非农村居住、非农民、与患者共同生活及对病人病情主观感觉较重为不良心理反应的主要影响因素。提示：医护人员在对病人进行诊治的同时，还应对病属的身心状况给予关注，以使他们以较佳的心理状态正视亲人患病这一负性生活事件。     

A Family Study of Autism: Cognitive Patterns and Levels in Parents and Siblings

First-degree relatives of 99 autism probands and of 36 Down's syndrome controls were assessed with standardised tests of intellectual functioning, reading, and spelling. Higher mean verbal IQ scores, and discrepancies in favour of verbal scores, were characteristic of autism relatives. No consistent differences were found on performance scales, reading, and spelling tests. Among autism relatives, siblings affected with the broad phenotype of autism had significantly lower IQ scores and poorer reading and spelling performances than unaffected siblings. However, the small size of the cognitive difference and the lack of a distinctive cognitive profile indicates that standardised cognitive measures used in this study are unlikely to improve the operationalised definition of the broad phenotype of autism. The slightly superior verbal performance of relatives in the autism group might represent some form of heterozygote advantage.     

2型糖尿病一级亲属非糖尿病患者胰岛素抵抗与胰岛β-细胞功能状态的研究

目的　研究 2型糖尿病 (DM)一级亲属非糖尿病患者胰岛素抵抗与胰岛β-细胞功能 ,探讨其在糖尿病发生发展中的作用。方法　选取 2型 DM一级亲属非糖尿病患者 6 0例为实验组 ,6 0例无糖尿病家族史的正常人为对照组 ,计算并比较两组的稳态模型胰岛素抵抗指数 (HOMAIR)、β-细胞功能指数 (HOMAβ)及胰岛素敏感性指数 (ISI)。结果　在年龄、体质指数 (BMI)及性别构成比可比的情况下 ,实验组 HOMAIR(0 .80 2 7± 0 .4 6 74 )、HOMAβ(5 .12 39± 1.0 86 3)显著高于对照组 (分别为 0 .6 0 11± 0 .5 4 6 2 ,4 .735 6± 0 .5 6 77) (P<0 .0 5 ) ,而 ISI(- 3.92 31± 0 .5 0 11)显著低于对照组(- 3.6 5 4 4± 0 .4 0 981) (P<0 .0 1)。结论　 2型 DM非 DM一级亲属具有高β-细胞分泌功能 ,低胰岛素敏感性 ,提示非DM一级亲属存在胰岛素抵抗。     

Multiple primary (even in situ) melanomas in a patient pose significant risk to family members

BackgroundWe aimed at assessing familial risk of melanoma by considering a detailed family history of multiple primary (invasive/in situ) melanomas (MPM), stratified by histology and location.MethodsAmong 65,429 melanoma patients diagnosed in 1958–2010 in the Swedish Family-Cancer Database, there were 4248 patients with familial melanoma. A detailed family history of MPM was investigated by number of melanomas in one first-degree relative (FDR) and in ⩾2 FDRs. Familial melanoma risk was assessed by standardised incidence ratios (SIRs) comparing those with family history of melanoma to those without. Combining invasive/in situ melanoma was due to essentially identical familial risks.ResultsFor one affected FDR, familial risk increased from SIR = 2.2 (95% confidence interval (CI) = 2.2–2.3) for single melanoma to 16.3 (9.5–26.1) for ⩾5 melanomas, while for ⩾2 affected FDRs, the risk increased from 5.5 (4.8–6.2) for single melanoma to 23.9 (13.6–38.8) for ⩾2 melanomas. Significantly higher familial risks for superficial spreading melanoma (SSM) [2.5 (2.3–2.6)] than lentigo maligna melanoma (LMM) [1.8 (1.6–2.1)], and for multiple parts [5.3 (3.1–8.4)] and trunk [2.6 (2.5–2.8)] than head/neck [2.0 (1.8–2.2)] were observed. Only at head/neck, significantly higher risk for SSM [2.4 (1.9–3.0)] than LMM [1.6 (1.4–1.8)] was noted.ConclusionWe found, for the first time, that familial risks were similar for two/three melanomas in one FDR or for a single melanoma in ⩾2 FDRs and, higher familial risks for SSM than LMM occurred only at head/neck. This study provides new evidence for genetic counselling in melanoma, suggesting the need for considering not only the number of affected family members but also the diagnosis of MPM (even in situ) in relatives.     

Long-term risk of IDDM in first-degree relatives of patients with IDDM

Summary Due to a short observation period previous studies may have underestimated prevalence and recurrence risk of IDDM in relatives of IDDM patients. To obtain a more exact life-time risk estimate we identified 310 probands, representative of Danish IDDM patients, characterized by current age more than 50 years, age at onset 40 years or less and diabetes duration of more than 30 years. Family data were obtained from 291 probands. Mean observation times (age) (± SD) for siblings (n = 553) and offspring (n=359) were 59.4 ± 16.1 years and 33.8 ± 8.8 years, respectively. Of the probands 73 (25.1%) had at least one first-degree relative with IDDM. Seventeen percent had at least one affected sibling. An increase from 10.4% to 22.4% of having first-degree relatives with IDDM among probands with age at onset below 20 years was observed during the period from proband at age 21 years up to 1 September 1992. Among affected siblings 48% of the second cases were affected more than 10 years after the first affected sibling. Using the life-table method cumulative recurrence risks from time of birth were calculated for siblings up to age 30 years of 6.4% and up to age 60 years of 9.6%. For offspring the risk up to age 34 years was 6.3%. In addition, we present a life-table method evaluating the cumulative recurrence risk from time of onset in the proband, as this is the most relevant when giving genetic counselling. In conclusion, the long-term risks of IDDM in siblings and offspring are high compared to that shown in previous reports.Abbreviations IDDM insulin-dependent diabetes mellitus - SE standard error