Blood groups in two Amish demes

Blood group studies in two Old Order Amish isolates support previous evidence for genetic differences in the two groups. The more completely studied Amish community, that of Lancaster Co., Pa., revealed higher A and lower O phenotype frequencies than found in the Amish of Holmes Co., Ohio. In both groups, about one-fourth of individuals are Rh negative. Three blood group genes (Kell-positive, CD^ue and CDE) are present in low frequency in the Lancaster Amish, and pedigree studies identified individuals who may have introduced them to the Amish. Preliminary studies of an unusual antibody found in one Amish female provide evidence for a new red cell antigen which is present in about one-fourth of Americans.     

Examination of Candidate Exonic Variants for Association to Alzheimer Disease in the Amish

Alzheimer disease (AD) is the most common cause of dementia. As with many complex diseases, the identified variants do not explain the total expected genetic risk that is based on heritability estimates for AD. Isolated founder populations, such as the Amish, are advantageous for genetic studies as they overcome heterogeneity limitations associated with complex population studies. We determined that Amish AD cases harbored a significantly higher burden of the known risk alleles compared to Amish cognitively normal controls, but a significantly lower burden when compared to cases from a dataset of unrelated individuals. Whole-exome sequencing of a selected subset of the overall study population was used as a screening tool to identify variants located in the regions of the genome that are most likely to contribute risk. By then genotyping the top candidate variants from the known AD genes and from linkage regions implicated previous studies in the full dataset, new associations could be confirmed. The most significant result (p = 0.0012) was for rs73938538, a synonymous variant in LAMA1 within the previously identified linkage peak on chromosome 18. However, this association is specific to the Amish and did not generalize when tested in a dataset of unrelated individuals. These results suggest that additional risk variation in the Amish remains to be identified and likely resides outside of the classical protein coding gene regions.     

Population and family studies on Kuru

Abstract

A model of group fissioning, applied by Mange (1964) to a Hutterite population and by Chagnon (1975) to an Amazonian Indian population, is applied to the “Nebraska” Amish community in Central Pennsylvania. Genealogical data were collected on 228 living, married individuals and their known ancestors in two new churches resulting from the fission of a church in 1978. The acrimonious fissioning of the church produced increased levels of intrachurch genealogical relatedness in the two new churches formed, as compared to the level of relatedness in the original church, with a greater increase for male/male relatedness than for female/female relatedness. This general increase in relatedness, documented for three human populations and also for fissioning groups of rhesus macaques, conforms to predictions from kin selection theory.     

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10

While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid, a pattern consistent with glutaric aciduria type 3 (GA3). None of these children had the GCDH c.1262C→T mutation that causes GA1 among the Amish. Using single-nucleotide polymorphism (SNP) genotypes, we identified a shared homozygous 4.7 Mb region on chromosome 7. This region contained 25 genes including C7orf10, an open reading frame with a putative mitochondrial targeting sequence and coenzyme-A transferase domain. Direct sequencing of C7orf10 revealed that the three Amish individuals were homozygous for a nonsynonymous sequence variant (c.895C→T, Arg299Trp). We then sequenced three non-Amish children with GA3 and discovered two nonsense mutations (c.322C→T, Arg108Ter, and c.424C→T, Arg142Ter) in addition to the Amish mutation. Two pathogenic alleles were identified in each of the six patients. There was no consistent clinical phenotype associated with GA3. In affected individuals, urine molar ratios of glutarate to its derivatives (3-hydroxyglutarate, glutarylcarnitine, and glutarylglycine) were elevated, suggesting impaired formation of glutaryl-CoA. These observations refine our understanding of the lysine-tryptophan degradation pathway and have important implications for the pathophysiology of GA1.     

WRITING AMISH CULTURE INTO GENES: BIOLOGICAL REDUCTIONISM IN A STUDY OF MANIC DEPRESSION

Critical realism is used to explore the problem of reductionism in a classic (the Amish Study) andwidely-cited study of manic depression. Along withrelated ideas drawn from the works of R.C.Lewontin, Arthur Kleinman, and Byron Good, it isshown that natural and social scientists deployatomistic and holistic reductionism; this, in turn,leads to the construction of artificially closedsystems' through the control of variables orexogenous forces. The psychiatric genetic studies ofthe Amish were predicated on the assumption thatAmish society is homogeneous and unchanging and,therefore, closed. We conclude by arguing thatinteractions between behaviors and genes, where theyexist, take place only within open systems, characterizedby multiple mechanisms – social andbiological – that together co-determineany event. To move forward, it is argued, behavior and generesearch requires recognition and resolution of thephilosophical conundrums that accompany reductionism.     

不同地区三级医院患者公益性评价比较及影响因素研究

????? 目的 了解不同地区患者对三级公立医院公益性的评价,探究公益性评价的影响因素。方法 通过问卷的形式,在东、中、西3个地区选择在三级医院就诊的患者进行调查, 使用Pearson Chi-square、非参数检验和Logistic回归方法对数据进行分析。 结果 患者对于公立医院的公益性评价存在一定的地区差异,但公益性总体评价的影响因素类似,医疗服务的适宜性和公平性是主要影响因素。结论 加强三级公立医院的公益性应该着重提高医疗服务的适宜性,提高医疗服务的公平性。     

综合性三级医院公益性评价的灰关联聚类分析

摘要 目的 对不同地区的7家综合性三级医院进行公益性水平的初步评价与分析。方法 运用灰关联聚类分析。 结果 7家三级医院的公益性水平总体偏低,仅各有一家医院经灰关联聚类分析归类为好与中,其余5家医院均归类为欠佳,不同地区三级医院公益性水平有一定差别。结论 灰关联聚类分析证明公立三级综合性医院公益性水平亟待加强,应从公益性的影响因素入手提高与改善公立三级医院的公益性水平。     

Socioeconomic position in childhood and adulthood and insulin resistance: cross sectional survey using data from British women's heart and health study

ObjectiveTo assess the associations between childhood and adulthood social class and insulin resistance.DesignCross sectional survey.Setting23 towns across England, Scotland, and Wales.Participants4286 women aged 60-79 years.ResultsBelonging to manual social classes in childhood and in adulthood was independently associated with increased insulin resistance, dyslipidaemia, and general obesity. The association between childhood social class and insulin resistance was stronger than that for adult social class. The effect, on insulin resistance and other risk factors, of belonging to a manual social class at either stage in the life course was cumulative, with no evidence of an interaction between childhood and adult social class. Women who were in manual social classes in childhood remained at increased risk of insulin resistance, dyslipidaemia, and obesity—even if they moved into non-manual social classes in adulthood—compared with women who were in non-manual social classes at both stages.ConclusionsAdverse social circumstances in childhood, as well as adulthood, are strongly and independently associated with increased risk of insulin resistance and other metabolic risk factors.

What is already known on this topic

Poor childhood social circumstances are, independently of adult social circumstances, associated with increased cardiovascular disease riskThey are associated with some components of the insulin resistance syndrome, and adverse childhood environmental factors, possibly poor nutrition, may lead to insulin resistance and to adult cardiovascular diseaseEvidence on the association between childhood social circumstances and insulin resistance in adulthood, and between childhood social circumstances and cardiovascular disease risk factors in women, is scarce

What this study adds

Belonging to manual social classes in childhood and in adulthood is independently associated with increased insulin resistance, dyslipidaemia, and obesity in older womenWomen who were in manual social classes in childhood remained at increased risk of insulin resistance, dyslipidaemia, and obesity, even if they had moved into non-manual social classes in adulthood     

Mitochondrial Haplogroup X is associated with successful aging in the Amish

Avoiding disease, maintaining physical and cognitive function, and continued social engagement in long-lived individuals describe successful aging (SA). Mitochondrial lineages described by patterns of common genetic variants (??haplogroups??) have been associated with increased longevity in different populations. We investigated the influence of mitochondrial haplogroups on SA in an Amish community sample. Cognitively intact volunteers aged ??80?years (n?=?261) were enrolled in a door-to-door survey of Amish communities in Indiana and Ohio. Individuals scoring in the top third for lower extremity function, needing little assistance with self-care tasks, having no depression symptoms, and expressing high life satisfaction were considered SA (n?=?74). The remainder (n?=?187) were retained as controls. These individuals descend from 51 matrilines in a single 13-generation pedigree. Mitochondrial haplogroups were assigned using the ten mitochondrial single nucleotide polymorphisms (mtSNPs) defining the nine most common European haplogroups. An additional 17 mtSNPs from a genome-wide association panel were also investigated. Associations between haplogroups, mtSNPs, and SA were determined by logistic regression models accounting for sex, age, body mass index, and matriline via generalized estimating equations. SA cases were more likely to carry Haplogroup X (OR?=?7.56, p?=?0.0015), and less likely to carry Haplogroup J (OR?=?0.40, p?=?0.0003). Our results represent a novel association of Haplogroup X with SA and suggest that variants in the mitochondrial genome may promote maintenance of both physical and cognitive function in older adults.     

Ecological study of social fragmentation,poverty, and suicide

ObjectivesTo investigate the association between suicide and area based measures of deprivation and social fragmentation.DesignEcological study.Setting633 parliamentary constituencies of Great Britain as defined in 1991.ResultsMortality from suicide and all other causes increased with increasing Townsend deprivation score, social fragmentation score, and abstention from voting in all age and sex groups. Suicide mortality was most strongly related to social fragmentation, whereas deaths from other causes were more closely associated with Townsend score. Constituencies with absolute increases in social fragmentation and Townsend scores between 1981 and 1991 tended to have greater increases in suicide rates over the same period. The relation between change in social fragmentation and suicide was largely independent of Townsend score, whereas the association with Townsend score was generally reduced after adjustment for social fragmentation.ConclusionsSuicide rates are more strongly associated with measures of social fragmentation than with poverty at a constituency level.

Key messages

• Place of residence may affect health, and mortality from most common diseases tends to be higher in areas characterised by low socioeconomic position
• Research dating back over 100 years suggests that social fragmentation may influencesuicide
• In the 1980s and 1990s, parliamentary constituencies with high levels of social fragmentation had high rates of suicide, independent of deprivation
• Constituencies with the greatest increases in social fragmentation between 1981 and 1991 also had the greatest increases in suicide rates over the same period
• Any targeting of suicide prevention may be more effective if aimed at socially fragmented rather than deprived areas

     

Parkinson disease loci in the mid-western Amish

Previous evidence has shown that Parkinson disease (PD) has a heritable component, but only a small proportion of the total genetic contribution to PD has been identified. Genetic heterogeneity complicates the verification of proposed PD genes and the identification of new PD susceptibility genes. Our approach to overcome the problem of heterogeneity is to study a population isolate, the mid-western Amish communities of Indiana and Ohio. We performed genome-wide association and linkage analyses on 798 individuals (31 with PD), who are part of a 4,998 member pedigree. Through these analyses, we identified a region on chromosome 5q31.3 that shows evidence of association (p value < 1 × 10^?4) and linkage (multipoint HLOD = 3.77). We also found further evidence of linkage on chromosomes 6 and 10 (multipoint HLOD 4.02 and 4.35 respectively). These data suggest that locus heterogeneity, even within the Amish, may be more extensive than previously appreciated.     

医务社工与志愿者在医院服务管理中作用的评价

目的 通过实证调查采集患者、医务工作者和志愿者对医务社工及志愿者工作的评价,解析医务社工及志愿者在医院服务管理中的作用。方法 采用问卷调查、文献查阅、深度访谈法,调研上海市三家三级甲等公立医院获取第一手资料。结果 调查结果显示,患者、医务人员及医务管理人员高度认可医务社工与志愿者在医院服务管理的作用。结论 医务社工和志愿者在医院服务管理中能发挥独特的作用,可以增进医患沟通,缓解或预防医患矛盾,给患者更多人文关怀和增值服务,一定程度上解决医患之间的诊治经费问题,提升服务品质、降低人力成本,应当得到全社会更多的重视。     

Social class in childhood and general health in adulthood: questionnaire study of contribution of psychological attributes

ObjectiveTo determine the contribution of psychological attributes (personality characteristics and coping styles) to the association between social class in childhood and adult health among men and women.DesignPartly retrospective, partly cross sectional study conducted in the framework of the Dutch GLOBE study.SubjectsSample of general population from south east Netherlands consisting of 2174 men and women aged 25-74 years. Baseline self reported data from 1991 provided information on childhood and adult social class, psychological attributes, and general health.ResultsIndependent of adult social class, low childhood social class was related to self rated poor health (odds ratio 1.67 (95% confidence interval 1.02 to 2.75) for subjects whose fathers were unskilled manual workers versus subjects whose fathers were higher grade professionals). Subjects whose fathers were manual workers generally had more unfavourable personality profiles and more negative coping styles. External locus of control, neuroticism, and the absence of active problem focused coping explained about half of the association between childhood social class and self rated poor health. The findings were independent of adult social class and height.ConclusionsA higher prevalence of negative personality profiles and adverse coping styles in subjects who grew up in lower social classes explains part of the association between social class in childhood and adult health. This finding underlines the importance of psychological mechanisms in the examination of the negative effects of adverse socioeconomic conditions in childhood.

Key messages

• Regardless of adult social class, low social class in childhood is related to poor general health in adulthood
• Adverse personality profiles and negative coping styles are more common in people who grew up in lower social classes
• Psychological attributes, such as low perceived control, explain a substantial part of the direct association between childhood social class and adult health
• Psychological mechanisms may explain adverse health outcomes in adults who have a low socioeconomic background

     

No "Rip Van Winkles" Here: Amish Education Since Wisconsin v. Yoder

This study examines the educational implications of the shift in economic livelihood in a Ohio Amish community since a landmark 1972 Supreme Court decision paved the way for control of their schools. The clash between tradition and economic pragmatism, and their multiple interpretations, has led to diverse educational pathways, including public schools, charter schools, homeschooling, GED programs, and vocational courses. The diverse ways in which the Amish continue to renegotiate social boundaries with their English neighbors suggests the need for more attention to internal diversity in the anthropological study of schooling in so called "folk societies."     

Impaired Recognition of Communicative Interactions from Biological Motion in Schizophrenia

BackgroundPatients with schizophrenia are deficient in multiple aspects of social cognition, including biological motion perception. In the present study we investigated the ability to read social information from point-light stimuli in schizophrenia.Conclusions/SignificanceThese findings are consistent with theories of “overmentalizing” (excessive attribution of intentionality) in schizophrenia, and suggest that processing social information from biological motion does rely on social cognition abilities.     

Social life cycle assessment: in pursuit of a framework for assessing wood-based products from bioeconomy regions in Germany

Purpose

With many policies in Germany steering towards a bioeconomy, there is a need for analytical tools that assess not only the environmental and economic implications but also the social implications of a transition to a bioeconomy. Wood is expected to become a major biomass resource in bioeconomy regions. Therefore, this paper develops a social life cycle assessment (sLCA) framework that can be applied specifically to a wood-based production system in one of Germany’s bioeconomy regions.

Methods

This paper reviews and analyses existing sLCA approaches, in terms of how applicable they are for assessing a wood-based production system in a German bioeconomy regional context. The analysis is structured according to the standard phases of environmental life cycle assessment (LCA). However, we use the term social effects rather than social impacts, to acknowledge the unknown cause–effect relationship between an organisation’s activities and its social impacts. We also consider the establishment of regional system boundaries, as well as the relationship between the social effects and the product being assessed. Additionally, an approach for the development and selection of social indicators and indices is outlined. Furthermore, we discuss data requirements and present an approach for a social life cycle impact assessment method.

Results and discussion

A new conceptual framework for a context-specific sLCA to assess wood-based products manufactured in a bioeconomy region was developed. It enables sLCA practitioners to identify “social hotspots” and “social opportunities” from a regional perspective. The location and characteristics of these social hotspots and opportunities can be analysed, in particular, for major production activities in a bioeconomy region in Germany. Therefore, according to this framework, the development of social indices and indicators, the collection of data and the approach used for characterising social effects need to relate to the geographical context of the product being assessed. The proposed framework can, thus, help to identify, monitor and evaluate the social sustainability of wood-based bioeconomy chains in a regional context.

Conclusions

This framework requires a high level of detail in the social inventory and impact assessment phase, in order to assess the regional foreground activities in a German wood-based bioeconomy region. It enables sLCA studies to identify which social hotspots and social opportunities occur and where they are located in the wood-based production system of a regional bioeconomy.

     

社会资本进入公立医院政策演进分析

目的 对我国公立医院利用社会资本的有关政策进行阐述和分析。方法 基于国内公立医院发展现况,通过个案调查、访谈、文献查阅等形式,对公立医院的融资过程进行政策分析。结果 公立医院对社会资本引入的尝试,已形成了一些具有若干特点的融资模式,如银行贷款、融资租赁、慈善捐赠等。结论 我国公立医院为实现可持续发展,多渠道引入社会资本已经成为必然的发展趋势。但从整体上讲,还未形成满足各种社会资本状况的政策体系。     

Barriers to Social Participation among Lonely Older Adults: The Influence of Social Fears and Identity

IntroductionLoneliness among older adults is a major public health problem that may be associated with processes of social participation and identity. This study therefore sought to examine the relationship between social participation and identity in a sample of lonely older adults living independently in London, England.MethodAn inductive qualitative approach, based on semi-structured interviews and thematic analysis, was employed.ResultsParticipants commonly spoke of barriers to social participation that have been reported elsewhere, including illness/disability, loss of contact with friends/relatives, lack of a supportive community, and lack of acceptable social opportunities. However, novel findings were also derived. In particular, participants commonly minimised the difficulties they faced alone, and described attempts to avoid social opportunities. These behaviours were linked to fears about engaging in social participation opportunities, including fears of social rejection and/or exploitation, and fears of losing valued aspects of identity.DiscussionIt is concluded that social participation amongst lonely older people will not improve through the removal of previously reported barriers alone; instead, older peoples’ beliefs, fears and identities must be addressed. Suggestions for implementing these findings within community organisations are provided.     

Familial Accumulation of Social Anxiety Symptoms and Maladaptive Emotion Regulation

BackgroundSocial anxiety is thought to be strongly related to maladaptive emotion regulation (ER). As social anxiety symptoms accumulate in families, we hypothesize that maladaptive ER is also more prevalent in families with anxious children. Thus, we analyze differences in emotion regulation of both child and mother in relation to social anxiety, as well as both their ER strategies in dealing with anxiety. Further, a positive relation between child and maternal ER strategies is assumed.MethodChildren (aged 9 to 13 years) with social, anxiety disorder (SAD; n = 25) and healthy controls (HC, n = 26) as well as their mothers completed several measures of social anxiety and trait ER strategies towards anxiety. As ER of children is still in development, age is considered as covariate.ResultsSAD children and their mothers reported more maladaptive ER strategies than HC dyads. Maternal maladaptive ER was related negatively to child adaptive ER which was further moderated by the child’s age.DiscussionMaladaptive ER strategies seem to contribute to the exacerbation of social anxiety in both mother and child. Mothers reporting maladaptive ER may have difficulties supporting their child in coping with social anxiety while simultaneously also experiencing heightened levels of anxiety. Deeper understanding of interactional processes between mothers and children during development can assist the comprehension of factors maintaining SAD. Implications for future research and possible consequences for interventions are discussed.