The Psychological Burden Inflicted By Multiple Cancers in Li-Fraumeni Families: Five Case Studies

To gain insight into the psychological, emotional, relational, and family problems of families afflicted by Li-Fraumeni syndrome, we interviewed members of five such families in the Pediatric Oncology Department, Gustave Roussy Institute, where at least one member of the family had been treated. These interviews showed that families were psychologically fragile, that their interactions and thinking patterns were related to a family background plagued by the repeated occurrence of cancer, and was often marked by physical or psychological violence. They had complex imaginary etiologic explanations, and showed an ambivalent willingness to learn about cancer and the risks involved. They expressed their fear of transmitting doom and death, posed questions about whether their parents would have had them had they known the test result, and about what their own attitude would be toward childbearing. Thus genetic testing awoke disconcerting and unsolved questions for them. These first results can contribute to the design of supportive interventions and future clinical research.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

IQ in childhood and the metabolic syndrome in middle age: Extended follow-up of the 1946 British Birth Cohort Study

IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated with risk of the metabolic syndrome, but this association was almost entirely mediated by educational attainment and achieved occupational social class. This may be consistent with a pattern where childhood IQ is strongly associated with outcomes that reflect neurological disorder, such as the degenerative dementias, but less so with common chronic physical diseases of ageing.     

多囊卵巢综合征与代谢综合征

高胰岛素血症和高雄激素血症是多囊卵巢综合征（PCOS）的两大基本特征,共同参与了PCOS的发生与发展,胰岛素抵抗是连接PCOS和MS的纽带。本文阐述了PCOS和MS的相互重叠、PCOS产生胰岛素抵抗的机制、胰岛素抵抗对PCOS的作用。指出早期识别PCOS,有利于及时纠正、阻断其内分泌紊乱,防止MS的发生。提高胰岛素敏感性的治疗措施包括生活方式调整和药物治疗,生活方式的调整主要是控制饮食、运动和改变生活方式,包括戒烟、戒酒;药物治疗主要是使用二甲双胍和噻唑烷二酮类药物,其他药物如右旋肌醇、N-乙酰半胱氨酸、生长抑素类似物、α糖苷酶抑制剂、内腓肽受体抑制剂也具有增强胰岛素敏感性的作用。     

代谢综合征与遗传

代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A／C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。     

非ST段抬高急性冠脉综合征药物治疗规范化分析

回顾性分析我院收治的129例非ST段抬高急性冠脉综合征患者的临床资料.对比在非ST段抬高急性冠脉综合征诊治上与最新指南的差距,找出改进措施.结果表明我院的临床实践与最新指南存在较大差距,在强化抗栓,调脂治疗,β受体阻滞剂及血管紧张素转换酶抑制剂类药物使用上均有待提高.今后应采取更加积极的措施,规范用药,以达到更好的预后和转归效果.     

Caregiving styles and anxiety among couples: coping versus not coping with cardiac illness

Background and Objectives: partners’ caregiving efforts are not always beneficial to both recipient and provider. Bowlby’s conceptualization of caregiving style as a stable predisposition may clarify such caregiving effects. The relationship between caregiving style (compulsive and sensitive) and anxiety among couples coping with cardiac illness and a matching control group not coping with cardiac illness were assessed. We hypothesized that one’s compulsive caregiving would associate positively, and one’s sensitive caregiving would associate negatively, with one’s and one’s partner’s anxiety across contexts (cardiac and non-cardiac) and gender. Design: A comparative design of 131 couples with a diagnosis of husbands’ acute cardiac syndrome and 68 matched couples in the community was applied. Methods: The Adult Caregiving Questionnaire and the Brief Symptoms Inventory were administered. Results: Structural equation modeling revealed that one’s compulsive caregiving was positively associated with one’s anxiety, across most contexts. Multi-group analyses revealed that the associations between one’s compulsive caregiving and one’s partner’s anxiety levels differed depending on gender and context. Conclusions: The distress which emerges in an individual who takes on a caregiving role and in his/her partner seems to result not only from the demands of the concrete caregiving situation but also from one’s and one’s partner’s developmental history.     

Changes in lower limb co-contraction and stiffness by toddlers with Down syndrome and toddlers with typical development during the acquisition of independent gait

During gait acquisition, children learn to use their changing resources to meet the requirements of the task. Compared to typically developing toddlers (TD), toddlers with Down syndrome (DS) have functionally different musculoskeletal characteristics, such as hypotonia, and joint and ligament laxity, that could produce a reduced passive stiffness. The interplay between this inherently lower passive stiffness and the demands of walking may result in different strategies during gait acquisition. This study compared normalized global stiffness and lower limb's co-contraction indices (CCI) used by toddlers with TD (n=12) and with DS (n=12), during the early stages of gait acquisition. Stiffness and CCI were normalized by gravitational torque (mLg) in both phases of gait (stance, swing). Five longitudinal evaluations were conducted from the onset of locomotion until three months post-acquisition. All children were video taped and had electromyographic (EMG) recordings from muscle pairs of one leg, which were used to calculate CCI of hip, knee, ankle, and total leg CCI. Body and lower limb stiffness were calculated according to a hybrid pendulum resonance equation. Results from ANOVAs revealed no group differences on stiffness or on CCI's during stance but children with DS showed greater CCI during swing. Despite the structural musculoskeletal differences between toddlers with TD and with DS, the similarities observed in their processes of gait development suggest functional equivalences.     

Synchrnoic consciousness from a neurological point of view: the philosophical foundations for neuroethics

Daniel Kolak’s theory of synchronic consciousness according to which the entire range of dissociative phenomena, from pathologies such as MPD and schizophrenia to normal dream states, are best explained in terms of consciousness becoming simultaneously identified as many selves, has revolutionary therapeutic implications for neurology and psychiatry. All these selves, according to Kolak—even the purely imaginary ones that exist as such only in our dreams—are not just conscious but also self-conscious, with beliefs, intentions, living lives informed by memories (confabulatory, in the case of the fictional ones) and personal histories. Kolak’s derivation of psychiatrically relevant aspects of his theory—a neurological rendition of a Kantian transcendental argument—can be given a straightforward neurological, and therefore open to scientific scrutiny, interpretation that would then more easily lend itself to the clinical setting in which these perplexing phenomena, along with their purveyors, must live and cope. This will be the main focus of this paper.