Rethinking 'family': A call for conceptual amelioration.

The modern concept of 'family' in the United States recognizes many types of social groups as families, a conceptual shift which was largely helped along by advancements in assisted reproductive technologies enabling those formerly unable to biologically reproduce to have children, as well as by social movements aimed at garnering recognition for these emergent nonbiologically related social groups spearheaded by LGBTQ+ and adoption activists. That these social groups are now recognized as types of families is unquestionably an improvement to the concept, though there are still defects in the concept that preclude these nonnuclear families from achieving the same social-ontological status as nuclear families. Drawing from the nascent philosophical field of conceptual engineering, I analyze our current conception of 'family' and argue that it is tacitly exclusionary of nonnuclear families, which can be attributed to a combination of widespread genetic essentialism and linguistic practices that unduly cast the nuclear family as a more desirable type of family by emphasizing genetic relatedness as a valuable quality. I then offer proposals to ameliorate these defects, such as educational interventions to reduce genetic essentialism and the introduction of new terminology that does not connote one type of family as being superior to another. In doing so, my hope is to reveal and begin to resolve an overlooked defect in the concept of 'family' in order to bolster the movement to view all families as equal.

Relationship Between Illness Uncertainty and Family Resilience Among Caregivers of Stroke Patients in Chinese Nuclear Families: The Mediating Role of Perceived Stress.

Purpose: Stroke is a major disease endangering the health of Chinese people, and patients need to rely on the care of family members, which brings heavy caregiving burdens and pressures to caregivers and families, thus disrupting the stable family structure. In view of this, this study was to analyse the current status of family resilience among caregivers of stroke patients in Chinese nuclear families, and to explore the correlation and mechanism of action among perceived stress, illness uncertainty and family resilience. Patients and Methods: This study used a cross-sectional research design. A total of 350 carers of stroke patients in nuclear families from four tertiary hospitals in Suzhou City, Jiangsu Province, China were selected by convenience sampling method and assessed by using demographic questionnaires, the Chinese Perceived Stress Scale (CPSS), the Parental Perceptions of Uncertainty Scale-Family (PPUS-FM), and a short Chinese version of the Family Resilience Assessment Scale (FRAS-C). Based on the above data, structural equation model was used to test the mediating role of perceived stress between illness uncertainty and family resilience. Results: Family resilience among caregivers of stroke patients in nuclear families was at the medium lower level, illness uncertainty was at the medium level, and perceived stress was at the relatively high level. Illness uncertainty was positively correlated with perceived stress (P<0.01) and negatively correlated with family resilience (P<0.01). Illness uncertainty directly predicted family resilience (ß = -0.516, p < 0.05). And the pathway between illness uncertainty and family resilience was partially mediated by perceived stress (Effect= -0.091, 95% CI [-0.141, -0.055]). Conclusion: Healthcare professionals should pay adequate attention to the level of illness uncertainty and perceived stress among carers of stroke patients, with the need to take measures to reduce carers' illness uncertainty and perceived stress in order to improve family resilience.

Ways of Being Together During the COVID-19 Pandemic: Support Bubbles and the Legal Construction of Relationships.

This article focuses on the concept of the support bubble. The concept was introduced in New Zealand in March 2020 in the context of the COVID-19 pandemic to denote a network of people with whom a person could have physical contact, and was later taken up in various forms elsewhere, particularly in the UK. The article focuses on the meaning that was attached to the concept and to the ways of being together that it encapsulated and stipulated. Where support bubbles were formalised as a matter of law, as in New Zealand and the UK, a particular form of relating was legally constructed and real relationships were affected through law. The article addresses the meaning and implications of the concept of the support bubble in this light. First, it considers the concept of the support bubble as a new legal form, which drew in, and built on, a range of relationships and then recast them in terms of a new legal form. Second, it analyses the central question posed by the concept as one of the meaning of being together in a support bubble, not only for those navigating and living with the concept in practice, but also as mediated in and through law. Third, it outlines how the concept of the support bubble represented a distinct legal development. It enabled those who were eligible to define for themselves, albeit within a specified framework, the meaning and nature of a relationship of support of this kind. It also supplied a space in which some kinds of relationships that had not necessarily attracted much previous legal attention-like friendships and dating relationships-came to find a degree of legal reflection and recognition.

The male breadwinner nuclear family is not the 'traditional' human family, and promotion of this myth may have adverse health consequences.

The importance of social support for parental and child health and wellbeing is not yet sufficiently widely recognized. The widespread myth in Western contexts that the male breadwinner-female homemaker nuclear family is the 'traditional' family structure leads to a focus on mothers alone as the individuals with responsibility for child wellbeing. Inaccurate perceptions about the family have the potential to distort academic research and public perceptions, and hamper attempts to improve parental and child health. These perceptions may have arisen partly from academic research in disciplines that focus on the Western middle classes, where this particular family form was idealized in the mid-twentieth century, when many of these disciplines were developing their foundational research. By contrast, evidence from disciplines that take a cross-cultural or historical perspective shows that in most human societies, multiple individuals beyond the mother are typically involved in raising children: in evolutionary anthropology, it is now widely accepted that we have evolved a strategy of cooperative reproduction. Expecting mothers to care for children with little support, while expecting fathers to provide for their families with little support, is, therefore, likely to lead to adverse health consequences for mothers, fathers and children. Incorporating evidence-based evolutionary, and anthropological, perspectives into research on health is vital if we are to ensure the wellbeing of individuals across a wide range of contexts. This article is part of the theme issue 'Multidisciplinary perspectives on social support and maternal-child health'.

Comunicación de orígenes en familias formadas por donación de gametos: del anonimato a la apertura como posibilidad / Comunicating origins in families formed by gamete donation: from anonymity to openness as a possibility

La reproducción asistida con donación ha venido a interrogar y a ampliar la noción de parentesco. La hegemonía del modelo biogenético dificulta que los padres de estas familias incorporen con tranquilidad la donación en su gestación. Desde los inicios de la técnica los padres han optado por no contar a su decendencia la historia de su concepción, muchas veces por miedo a que se deslegitimara su relación filial. Con el tiempo, se ha observado una apertura hacia la comunicación. Este cambio va de la mano con el desarrollo de la investigación en el área, que comenzó preguntándose por el bienestar psicológico de los nacidos por donación, por los aspectos relacionales de las familias concebidas de este modo e interrogando los beneficios de la comunicación de orígenes. Luego, investigando las percepciones en relación con su origen de las personas nacidas por donación. Finalmente, se ha publicado acerca la imposibilidad del anonimato en la era de los exámenes genéticos directos al consumidor. El modo de entender la reproducción con donante ha evolucionado, de un modelo médico en el que el foco es el lograr un embarazo saludable, a un modelo de formación de familia, en el que la motivación es contribuir a formar familias de buen funcionamiento. Esto tiene implicancias en la consejería a quienes participan del proceso, y también en los lineamientos que las sociedades científicas y comités de ética sugieren a los programas de reproducción con donante.

Gamete donation has come to question and broaden the notion of kinship. The hegemony of an biogenetic model has been an obstacle for parents of these families to incorporate donation into their history. From the beginning of the technique the parents chose not to tell their descent the history of their conception, often for fear that their filial relationship would be delegitimized. Over time, an openness to disclosure has been observed. This change goes hand in hand with the development of research in the area, which began by asking about the psychological well-being of those born by donation. Then investigating the relational aspects of families conceived in this way and questioning the benefits of disclosure. Subsequently, it was possible to study the perceptions regarding their origin of people born by donation. Finally, the impossibility of anonymity in the era of direct consumer genetic testing has been published. The way of understanding donor reproduction has evolved, from a medical model in focus is to achieve a healthy pregnancy, a family formation model, in which the motivation is to contribute to forming well-functioning families. This has implications in counseling to those who participate in the process, and in the guidelines that scientific societies and ethics committees affect donor reproduction programs.

Parent-child dyads and nuclear family association in pedometer-assessed physical activity: A cross-sectional study of 4-to-16-year-old Czech children.

The main aim of this study is to examine familial aggregation in pedometer-assessed physical activity (PA) and proxy-reported screen time (ST) with estimating which of the parents' lifestyle indicators help their offspring achieve step count (SC) recommendations under daily life conditions. The analysis included 773 parent-child dyads (591 mother-child, 182 father-child) and 511 nuclear family triads (mother-father-child) with data ambulatory PA monitored with a Yamax pedometer during a regular school/working week during the spring and autumn between 2013 and 2019. Based on Logistic regression analysis, an achievement of 10,000 steps a day by the mothers significantly (p < 0.001) increases the odds ratio of their children reaching the recommended daily SC in the parent-child dyads. Obesity/overweight of mothers (fathers) significantly (p < 0.05) increases (reduces) the chance of their children reaching the recommended daily SC in the analysis of the nuclear family triads. For both overweight/obese and non-overweight children, the odds of reaching the recommended daily SC are significantly (p < 0.05) increased by their regular participation (≥ twice per week) in organised leisure-time PA (analysis of the nuclear family triads) and non-excessive entertainment ST (≤2 h per day) in the mother-child and nuclear family triads. Despite the different mother-/father-child behavioural associations, SC of parents are positively associated with SC of their children (Linear regression analysis). The involvement of children in regular participation in organised leisure activities (at least twice a week) and limiting their excessive entertainment ST might be important factors contributing to the achievement of the recommended daily SC by children.

Excessive body weight of children and adolescents in the spotlight of their parents' overweight and obesity, physical activity, and screen time.

OBJECTIVES: The main aim of this study was to bridge the research gap in the countries of Central Europe using the family dyad approach to examine the associations of parents' overweight/obesity, physical activity (PA), and screen time (ST) with excessive body weight in their offspring. METHODS: The cross-sectional study included 1101 parent-child dyads (648/453 mother/father-child aged 4-16) selected by two-stage stratified random sampling with complete data on body weight categories, weekly PA (Yamax pedometer), ST (family logbook) collected over a regular school/working week during the spring and autumn seasons between 2013 and 2019. Binary logistic regression analyses were used to identify which of parents' lifestyle indicators were associated with the overweight/obesity of their offspring. RESULTS: The mother's overweight/obesity significantly increases her children's odds of overweight/obesity. Concerning fathers, active participation in organized leisure-time PA and reaching 10,000 steps per day significantly reduce the odds of overweight/obesity in their children and adolescent offspring. CONCLUSIONS: The cumulative effect of parental participation in organized leisure-time PA with their own family-related PA can be a natural means of preventing the development of overweight/obesity in their offspring.

A cross-sectional study on caregivers' perspective of the quality of life and adherence of paediatric HIV patients to highly active antiretroviral therapy.

BACKGROUND: Poor compliance to highly active antiretroviral therapy (HAART) can result in the poor quality of life in children living with Human immunodeficiency virus/Acquired immunodeficiency syndrome (HIV/AIDS) because of low plasma drug concentration and the possibility of drug resistance. This study evaluates the response of caregivers for determination of adherence and the four quality of life domains in children (aged 14 years and under) on HAART. METHODS: We conducted a cross-sectional study of 188 children, each accompanied by their caregivers at Ola During Children's Hospital and Makeni Government Hospital between September and November 2016. Adherence to HAART and Quality of life was assessed using the WHO Quality of life summary questionnaire (WHOQOL-BREF). We obtained ethical approval from the Sierra Leone Ethics and Scientific Review Committee. RESULTS: The study revealed 5.9% adherence amongst paediatric patients, and a strong association of adherent patients(p = 0.019*) to the physical health domain (mean = 64.61 SD = 8.1). Caregiver HIV status showed a strong association with the physical (mean = 58.3, SD = 11.7 and p = 0.024*), and psychological health domains (mean = 68.2, SD = 14.7 and p = 0.001). Caregiver type (mother/father/sibling) accompanying child to hospital also showed strong associated with the physical (mean = 58.0, SD = 10.6, p <  0.001), psychological (mean 68.2 SD = 14.81 p <  0.001) and environmental health domains (mean = 59.7, SD = 13.47, p <  0.001). Further regression analysis showed a strong association with physical health domain for HIV positive caregivers (p = 0.014) and adherent paediatric patients (p = 0.005). Nuclear family also showed a strong association with psychological (p <  0.001) and environmental (p = 0.001) health domains. CONCLUSION: This study showed a strong association between the quality of life domains and the involvement of nuclear family caregiver, HIV-positive caregiver and adherence to HAART. Our study suggests that the involvement of any member of the nuclear family, HIV positive parents and patient adherence to therapy can improve the quality of life of paediatric HIV/AIDS patients on highly active antiretroviral therapy in the two hospitals.

Can we study the family environment through census data? A comparison of households, dwellings, and domestic units in rural Mali.

Are 'statistical households', as defined in national censuses, able to describe the family environment in Africa? Do they correspond to the family units that individuals identify with? To address this issue, we build on a follow-up survey in south-east Mali, which links national censuses with local censuses at the individual level (N ≈ 28,000 census observations). Three cross-sectional snapshots of family arrangements are compared: households recorded in national censuses, and family economic units and residential units recorded by local censuses. The national census household data appear poorly suited to documenting family living arrangements. They do not account for family economic units or residential units, but are highly conditioned by a normative representation centred on the nuclear family. Therefore, they fail to describe the complexity and diversity of people's living spaces, making particular types of living arrangements invisible and increasing the likelihood of omitting individuals who do not fit into a nuclear model.

Estimation of heritability and familial correlation in myopia is not affected by past sun exposure.

Purpose: To consider the effect of including past sun exposure in estimating heritability and familial correlation of myopia-related traits.Methods: We calculate familial correlation and heritability of anterior chamber depth (ACD), axial length (AL), corneal curvature (CC), and spherical equivalent (SphE), with or without past sun exposure as a covariate, in a large number of unrelated nuclear families from the Raine Study (parents: Gen1, offspring: Gen2) residing in Perth, Australia, a city with a high amount of daily sunlight. Past sun exposure was objectively measured using conjunctival ultraviolet autofluorescence (CUVAF) photography.Results: When sun exposure was not included in the analysis, both familial correlation (correlation±SE; ACD: 0.308 ± 0.065, AL: 0.374 ± 0.061, CC: 0.436 ± 0.063, SphE: 0.281 ± 0.070) and heritability (ACD: 0.606 ± 0.104, AL: 0.623 ± 0.098, CC: 0.793 ± 0.079, SphE: 0.591 ± 0.106) were significant for all traits (all P < .001). However, there was no significant change in both familial correlation and heritability estimates when sun exposure was included as an additional covariate.Conclusions: Past sun exposure does not affect the estimation of the additive genetic component in myopia-related traits.

Prolonged grief disorder among asylum seekers in Germany: the influence of losses and residence status.

Background: Besides the high exposure to traumatic events, many refugees to Europe experienced tremendous interpersonal losses. Objective: The aim of this study was to investigate the rate and potential risk factors of prolonged grief disorder (PGD) in recently fled asylum seekers who lived in collective accommodations in Germany. Method: Three groups of asylum seekers from different countries (N = 99) completed the Traumatic Grief Inventory Self-Report Version (TGI-SR), Posttraumatic Stress Disorder Checklist-5 (PCL-5), and Patient Health Questionnaire depression module (PHQ-9). Individuals in Group 1 were waiting for asylum decisions (n = 29), Group 2 members were in appeal against rejected asylum claims (n = 32), and Group 3 members had been permitted temporary residence status (n = 38). Results: The loss of a loved person was reported by 92% of participants. The criteria for provisional PGD diagnosis according to Prigerson criteria were met by 20% of participants, 16% fulfilled the criteria for DSM-5 persistent complex bereavement disorder. Probable posttraumatic stress disorder (45%) and depression (42%) rates were high. The total number of lost nuclear family members and PTSD symptoms were associated with higher and temporary residence status was predicted lower PGD symptom levels. Conclusions: These results show that a substantial proportion of asylum seekers suffer from PGD. This points to the need to screen for problematic grief in the current refugee population in Europe.

Antecedentes: Además de la alta exposición a experiencias traumáticas, muchos refugiados que van a Europa han experimentado grandes pérdidas interpersonales.Objetivo: El objetivo de este estudio fue investigar la tasa y factores de riesgo potenciales para el trastorno de duelo prolongado (PGD por sus siglas en ingles) en solicitantes de asilo que huyeron recientemente y que vivieron en alojamientos colectivos en Alemania.Métodos: Tres grupos de solicitantes de asilos de diferentes países (N = 99) completaron el Inventario de Duelo Traumático Versión Autoadministrada (TGI-SR, por sus siglas en inglés), Lista de Verificación del Trastorno de Estrés Postraumático 5 (PCL-5, por sus siglas en inglés), y el módulo de depresión del Cuestionario de Salud del Paciente (PHQ-9, por sus siglas en inglés). Los sujetos del primer grupo se encontraban en espera de decisión respecto a su situación de asilo (n = 29), los del segundo grupo se encontraban en apelación del rechazo a su solicitud de asilo (n = 32), y a los del tercer grupo se les había permitido obtener la condición de residentes temporales (n = 38).Resultados: El 92% de los participantes reportó la pérdida de algún ser querido. Un 20% cumplían los criterios para el diagnóstico provisional del trastorno de duelo prolongado según Prigerson et al. (2009), y un 16% cumplían los criterios para el trastorno persistente de duelo complicado según el DSM-5. Las tasas de trastorno de estrés postraumático probable (45%) y de depresión (42%) fueron altas. Tanto el número de miembros de la familia nuclear que se perdieron, como los síntomas del trastorno de estrés postraumático, y la condición de residencia temporal se asociaron a niveles más altos de trastorno de duelo prolongado.Conclusiones: Estos resultados muestran que una proporción considerable de solicitantes de asilo padece PGD. Esto apunta a la necesidad de un tamizaje para duelo prolongado en la actual población de refugiados en Europa.

Posttraumatic Slave Syndrome, the Patriarchal Nuclear Family Structure, and African American Male-Female Relationships.

African American marriages and relationships have strived to model the white patriarchal nuclear family model, but the experiences of slavery and contemporary structural racism have prevented the attainment of this model. Posttraumatic slave syndrome offers a framework that allows social workers to place African American experiences within a trauma-informed perspective and think about their implication for trauma-specific interventions. This article provides a brief overview of the traumatic experiences of African Americans as they relate to African American relationships, integrates the historical experiences of African Americans into a trauma-informed perspective to help social workers recognize the manifestations of trauma in African American relationships, and discusses implications for trauma-specific interventions to strengthen African American relationships.

Probability of success in the search for a related bone marrow donor in Cologne, Germany using HLA-A, -B and -DRB1 haplotype frequencies.

Between 2004 and 2013, 603 patients and their relatives (n = 1297) were typed as part of the search for a suitable HLA-matched donor in their nuclear and extended families at the central service provider for transfusion medicine at the University Hospital of Cologne. The high success rate in finding donors over the years at our center (38.1%) led us to examine our database retrospectively in order to evaluate the donor search and haplotype frequencies (HFs) in the sample. Our goal was to identify the factors contributing to this high success rate and also to compare the HFs we observed with other reported haplotype frequency estimations (HFE) for the Cologne area. Probability estimations for a successful donor search were constructed based on the HFEs for the sample.

Detection of imprinting effects for qualitative traits on X chromosome based on nuclear families.

Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this article, the parental-asymmetry test on X chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter. Then, we propose 1-XPAT to deal with parent-daughter pairs, each with one parent and his/her affected daughter. By simultaneously considering family trios and parent-daughter pairs, C-XPAT (the combined test statistic of XPAT and 1-XPAT) is constructed to test for imprinting. Further, we extend the proposed methods to accommodate complete (with both parents) and incomplete (with one parent) nuclear families having multiple daughters of which at least one is affected. Simulation results demonstrate that the proposed methods control the size well, irrespective of the inbreeding coefficient in females being zero or non-zero. By incorporating incomplete nuclear families, C-XPAT is more powerful than XPAT using only complete nuclear families. For practical use, these proposed methods are applied to analyse the rheumatoid arthritis data and Turner's syndrome data.

Heritability of cognitive functions in nuclear families with bipolar I disorder / 中国神经精神疾病杂志

Objective To examine the heritability of neurocognitive functions in bipolar I disorder(BD-I)families and BD-associated cognitive endophenotypes. Methods Seventy-nine nuclear families consisting of euthymic BD-I probands and their healthy parents were recruited. Cognitive functions including attention, working memory, processing speed and executive function were evaluated by 7 classic neurocognitive tests, and the heritability of neuroconitive functions in these families was estimated using parent-offspring regression indexes of quantitative traits.Furthermore,the heritable cognitions were compared between 79 BD probands and 140 normal controls. Results After adjusted by age and education,mistake numbers of Trail Making Test A(TMT-A),total score and completed mission numbers of Tower of Hanoi (TOH) were significantly heritable (P<0.05). The comparison of these heritable cognitions between patients and normal controls showed that TOH total score and TOH completed mission numbers were significantly impaired in the patient group (P<0.05). Conclusion Processing speed and executive function are probably heritable in BD nuclear families. Executive function impairments may be disease-related which could be candidate endophenotypes for bipolar disorder.

The prevalence characteristic of Kashin-Beck disease in nuclear families / 中华地方病学杂志

Objective To analyze the occurrence characteristic of Kashin-Beck disease (KBD) in nuclear families,and to provide a scientific basis for KBD prevention.Methods KBD patients in 15 villages of Linyou County,Shaanxi Province were investigated using clinical and questionnaire survey.According to the prevalence of KBD,the nuclear families were divided into 4 different types:parents did not suffer from KBD (A,n =3 657),mother suffered from KBD and father did not (B,n =674),father suffered from KBD and mother did not (C,n =907),and both patients suffered from KBD (D,n =748).The relationship between prevalence of nuclear families and prevalence of population was analyzed using correlation analysis,and the changes of prevalence in different age groups of family members were analyzed.Results ①The prevalence of nuclear families (38.91％,2 329/5 986) and the prevalence of popttlation (14.42％,3 700/25 656) were significantly correlated (r =0.77,P ＜ 0.05);②The proportions of parental generation men and women with KBD were 9.91％ (118/1 191) vs 11.30％ (105/929) in 0-10 years old group,62.80％ (748/1 191) vs 58.45％ (543/929) in 11-20 years old group,15.70％ (187/1 191) vs 18.51％ (172/929) in 21-30 years old group,7.30％ (87/1 191) vs 7.64％ (71/929) in 31-40 years old group,2.77％ (33/1 191) vs 2.37％ (22/929) in 41-50 years old group,1.34％ (16/1 191) vs 1.51％ (14/929) in 51-60 years old group,and 0.17％ (2/1 191) vs 0.22％ (2/929) in 61-70 years old group,respectively.③Among the three nuclear families (B,C,D),the age of offspring with KBD was less than 13 years old when the age of their parents with KBD was less than 13 years old(83.33％,20/24);The age of the offspring with KBD was mainly distributed between the ages of 13 and 25 years old when the age of their parents with KBD was 13-25 years old (69.86％,51/73);When the age of parents with KBD was order than 25 years old,the age of their offspring with KBD was mainly less than 25 years old (84.85％,56/66);④Among the four nuclear families,the prevalence rates of male and female in the first filial generation were 1.41％ (52/3 683) vs 0.47％ (12/2 538) in A family (x2 =0.47,P ＞ 0.05),5.73％ (31/541) vs 0.53％ (2/378) in B family (x2 =4.32,P ＜ 0.05),6.48％ (44/679) vs 0.95％ (5/528) in C family (x2 =4.10,P ＜ 0.05),and 9.46％ (66/698) vs 3.31％ (15/453) in D family (x2 =2.96,P＞ 0.05),respectively.Conclusions ①The prevalence of the nuclear family with KBD is related to the population prevalence;②the prevalence of male and female with KBD is related to age,and KBD mainly occurs between the age of 11 and 20;③the age of offspring with KBD is partly influenced by the age of their parents;④the prevalence rate of male in the first filial generation is higher than that of female in the first filial generation.

Single Marker Family-Based Association Analysis Conditional on Parental Information.

Family-based designs have been commonly used in association studies. Different family structures such as extended pedigrees and nuclear families, including parent-offspring triads and families with multiple affected siblings (multiplex families), can be ascertained for family-based association analysis. Flexible association tests that can accommodate different family structures have been proposed. The pedigree disequilibrium test (PDT) (Martin et al., Am J Hum Genet 67:146-154, 2000) can use full genotype information from general (possibly extended) pedigrees with one or multiple affected siblings but requires parental genotypes or genotypes of unaffected siblings. On the other hand, the association in the presence of linkage (APL) test (Martin et al., Am J Hum Genet 73:1016-1026, 2003) is restricted to nuclear families with one or more affected siblings but can infer missing parental genotypes properly by accounting for identity-by-descent (IBD) parameters. Both the PDT and APL test are powerful association tests in the presence of linkage and can be used as complementary tools for association analysis. This chapter introduces these two tests and compares their properties. Recommendations and notes for performing the tests in practice are provided.

Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease.

The cytoskeleton not only provides structure, it is an active component of cell function, and in several neurodegenerative disorders, there is evidence of cytoskeletal collapse. Cytoskeletal proteins have been specifically implicated in the pathogenesis of Parkinson's disease (PD), where degeneration of dopaminergic (DA) neurons is the hallmark, but in which many factors may determine the resilience of DA neurons during aging and stress. Here we report that the human Microtubule Actin Cross-linking Factor 1 gene (MACF1), a downstream target of PD biochemical pathways, was significantly associated with PD in 713 nuclear families. A significant allelic association between PD and rs12118033, with P = 0.0098, was observed, and a P < 0.03 was observed in the association analysis by both a trend test and an allelic test. We further observed that it is the MACF1b isoform, not the MACF1a isoform, which is expressed in DA neurons from six human postmortem brains. In a Caenorhabditis elegans system, used to explore the effect of altered MACF1b on neurons, knockdown or knockout of the MACF1b orthologue vab-10 resulted in the selective loss of DA neurons, which validated MACF1's risk candidacy in PD. These findings strongly suggest that MACF1b may contribute to the genetic etiology and mechanistic causation of PD.

The (Re) Production of the Genetically Related Body in Law, Technology and Culture: Mitochondria Replacement Therapy.

Advances in medicine in the latter half of the twentieth century have dramatically altered human bodies, expanding choices around what we do with them and how they connect to other bodies. Nowhere is this more so than in the area of reproductive technologies (RTs). Reproductive medicine and the laws surrounding it in the UK have reconfigured traditional boundaries surrounding parenthood and the family. Yet culture and regulation surrounding RTs have combined to try to ensure that while traditional boundaries may be pushed, they are reconstructed in similar ways. This paper looks at the most recent RT to be permitted in the UK, mitochondria (mtDNA) replacement therapy (MRT). Despite controversial media headlines surrounding the technique, MRT is in fact an example of how science and regulation seek to expand models of traditional relatedness in a way that doesn't challenge the existing order. Yet, like other RTs, while attempts are made to ensure it doesn't push traditional boundaries too far, fissures and inconsistencies appear in law and culture, which give interesting insights into how genetics, parentage and identity are being mediated in new but familiar ways.

Does Family Structure Play a Role in Depression in Adolescents Admitted to Psychiatric Inpatient Care?

We examined whether adolescents' family structure associate with depression in a clinical sample of 508 adolescents (age 13-17 years) treated in psychiatric hospital between April 2001 and March 2006. Psychiatric disorders of adolescents were based on the K-SADS-PL-interview. Adolescents with depression were characterized by a single parent family background (58 %), but less commonly by a child welfare placement (37 %). Depression in adolescents was significantly related to female gender and a single parent family background, but less significantly related to comorbid psychotic or conducts disorders. The association between family structure and depression presents a challenge to mental health services. Early screening for depression in adolescents admitted for psychiatric treatment from "at risk" family types is important to enhance their future wellbeing and coping strategies.