Body experience in children with intellectual disabilities with and without externalising disorders

Psychomotor therapy for children with mild intellectual disabilities (ID) often is aimed at improving body experiences. If children are able to recognise their bodily signals, they will be able to regulate emotions better and act more adequately. Because little is known about body experience in children with intellectual disabilities and externalising behaviour, the aim of this study was to shed more light on this topic. Thirty-one children with intellectual disabilities, aged eight to 12 years (M?=?9.9, SD?=?1.3) participated in this study. The PsyMot diagnostic procedure and the Body Experience Questionnaire for Children were used to measure body experience. In 41% of the cases problems in body experience were found. Children with ID and externalising disorders showed significant more problems in body experience than children with ID-only. Movement interventions aimed at improving body experience seem particularly relevant for these children, as they support the development of emotion regulation abilities.     

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients with mental retardation (MR). In order to screen for pathogenic mutations at the distal part of the human dystrophin gene we have used single-strand conformation analysis of products amplified by polymerase chain reaction (PCR-SSCA) in 35 unrelated male Greek DMD/BMD patients with no detectable deletions. Seven patients also had severe mental retardation. Direct sequencing of samples demonstrating a shift of SSCA mobility revealed six different and pathogenic minor changes, five in DMD and one in a BMD patient. Four of the mutations were found in DMD patients with severe MR. Three of these mutations were localised in exon 66, which presents an interesting similarity with part of the 3' end of the genome of eastern equine encephalomyelitis virus (EEEV). The present data from Greek DMD/BMD patients give further information about the phenotypic effects consequent on mutations in exons at the distal part of the human dystrophin gene.     

Organ or not? prolegomenon to organology

The definition of an organ is vague, so that listing and classifying human organs is problematic. The classical Greek definition of an organ as an instrumental part of the body has been supplemented in modern biology by stating that organs occupy a hierarchical level between systems and tissues. Not all anatomical entities on that level meet the requirement of a special function. Thus it appears that systems are composed of organs and connecting (or linking) structures, such as some connective tissues, various tubular entities, and nerves. Clin. Anat. 30:288–289, 2017. © 2017 Wiley Periodicals, Inc.     

The linguistic roots of Modern English anatomical terminology

Previous research focusing on Classical Latin and Greek roots has shown that understanding the etymology of English anatomical terms may be beneficial for students of human anatomy. However, not all anatomical terms are derived from Classical origins. This study aims to explore the linguistic roots of the Modern English terminology used in human gross anatomy. By reference to the Oxford English Dictionary, etymologies were determined for a lexicon of 798 Modern English gross anatomical terms from the 40^th edition of Gray's Anatomy. Earliest traceable language of origin was determined for all 798 terms; language of acquisition was determined for 747 terms. Earliest traceable languages of origin were: Classical Latin (62%), Classical Greek (24%), Old English (7%), Post‐Classical Latin (3%), and other (4%). Languages of acquisition were: Classical Latin (42%), Post‐Classical Latin (29%), Old English (8%), Modern French (6%), Classical Greek (5%), Middle English (3%), and other (7%). While the roots of Modern English anatomical terminology mostly lie in Classical languages (accounting for the origin of 86% of terms), the anatomical lexicon of Modern English is actually much more diverse. Interesting and perhaps less familiar examples from these languages and the methods by which such terms have been created and absorbed are discussed. The author suggests that awareness of anatomical etymologies may enhance the enjoyment and understanding of human anatomy for students and teachers alike. Clin. Anat. 25:1015–1022, 2012. © 2012 Wiley Periodicals, Inc.     

Magnetoencephalographic study of the neural responses in body perception

A fundamental trait of human beings is the ability to discern information communicated by others. The human body is one of the important sources of such information. To date, several researchers have reported two body-selective regions in the brain—the extrastriate body area (EBA) and fusiform body area. As compared to the number of studies on spatial distribution, studies on the temporal processing of body perception are few. The electroencephalography (EEG) findings of a recent study indicate that observation of the human body induces a remarkable response leading to the generation of event-related-potentials that peak at 190 ms. However, source localization by using EEG has limitations. The advantage of magnetoencephalography (MEG) is that it enables localization of cortical activities and has excellent temporal resolution. In this study, we used MEG to measure the neural responses underlying the perception of the human body. Our results suggest that cortical activation induced by body images was observed in the bilateral EBA region with a latency of 190 ms and right-hemispheric dominance. Our study revealed the regions involved and the latency differences between these regions in body perception. Further, our results show the usefulness of MEG for body perception studies and suggest that like the face, the body plays a unique role in the human recognition process.     

Peroxisome proliferator activated receptor gamma (PPARγ) as a therapeutic target for improvement of cognitive performance in Fragile-X

Rare disorders leading to intellectual disability, such as Fragile X syndrome (FXS) alter synaptic plasticity. Ligand identification of orphan nuclear receptors has led to the discovery of many signaling pathways and has revealed a direct link of nuclear receptors with human conditions such as mental retardation and neurodegenerative diseases. PPARγ agonists can act as neuroprotective agents, promoting synaptic plasticity and neurite outgrowth. Therefore, selective PPARγ agonists are good candidates for therapeutic evaluation in intellectual disabilities. Preliminary results suggest that PPARγ agonists such as Pioglitazone, Rosiglitazone and synthetic agonist, GW1929, are used as the therapeutic agent in neurological disorders. These components interact with intracellular transduction signals (e.g. GSK3β, PI3K/Akt, Wnt/β-Catenin, Rac1 and MMP-9). It seems that interaction with these pathways can improve memory recognition in FXS animal models. The present hypothesis consists of enhancing synaptic plasticity that may then rescue the learning and memory in FXS. This will open many new therapeutic avenues for a variety of human diseases.     

High frequency of human leukocyte antigen class II DRB1*1602 haplotype in Greek patients with myelodysplastic syndrome and of DRB1*1501 in the low-risk subgroup

Myelodysplastic syndromes (MDS) comprise a heterogenous group of clonal hematopoietic disorders in which the immune-mediated pathogenetic mechanisms are under investigation. Overrepresentation of human leukocyte antigen (HLA)-DR2 and its serologic split HLA-DR15 has been associated with low-risk MDS in certain ethnic groups and has been proposed as a predictive factor for a favorable response to immunomodulatory treatment. Because the HLA-DRB1*15 haplotype does not predominate in the Greek population, we investigated the frequency of HLA-DRB1 alleles among 114 patients of Greek origin suffering from various types of MDS: 36 refractory anemia (RA), 24 refractory anemia with ringed sideroblasts (RARS), 19 refractory anemia with excess of blasts (RAEB), 14 refractory anemia with excess of blasts in transformation (RAEB-t), 14 chronic myelomonocytic leukemia, and 7 hypoplastic MDS patients. HLA-DRB1 molecular typing was performed with polymerase chain reaction-sequence specific oligonucleotides and results were compared with that from a previously reported control Greek population. HLA-DRB1*1602 was the only allele that was significantly overrepresented in Greek MDS patients as a whole, whereas HLA-DRB1*1501 allele frequency was significantly higher in Greek patients with low-risk myelodysplasia. Our results suggest the possible value of HLA-DR15 and HLA-DR16 as determinants for immunomodulatory interventions, at least for Greek patients with low-risk MDS.     

知识分子职业满意度与心身健康的相关研究

目的 测查知识分子的职业满意度与心身健康状况，比较各子群体职业满意度的差异，分析职业满意度与心身健康的关系。方法 采用问卷调查法，问卷包括自编量表和中国心身健康量表(CPSHS)。结果 知识分子群体心理健康水平显著高于普通人群，且职业满意度、工作应激与心理健康相关显著；女性比男性知识分子群体职业满意度高，工作应激强度低；45岁以上年龄段的知识分子职业满意度较高，工作应激强度较小；从事专业性较强、技术含量较高职业的知识分子群体职业满意度偏低，工作应激强度偏大，躯体健康状况较差。     

Exploring Genomic Structure Differences and Similarities between the Greek and European HapMap Populations: Implications for Association Studies

Studies of the genomic structure of the Greek population and Southeastern Europe are limited, despite the central position of the area as a gateway for human migrations into Europe. HapMap has provided a unique tool for the analysis of human genetic variation. Europe is represented by the CEU (Northwestern Europe) and the TSI populations (Tuscan Italians from Southern Europe), which serve as reference for the design of genetic association studies. Furthermore, genetic association findings are often transferred to unstudied populations. Although initial studies support the fact that the CEU can, in general, be used as reference for the selection of tagging SNPs in European populations, this has not been extensively studied across Europe. We set out to explore the genomic structure of the Greek population (56 individuals) and compare it to the HapMap TSI and CEU populations. We studied 1112 SNPs (27 regions, 13 chromosomes). Although the HapMap European populations are, in general, a good reference for the Greek population, regions of population differentiation do exist and results should not be light‐heartedly generalized. We conclude that, perhaps due to the individual evolutionary history of each genomic region, geographic proximity is not always a perfect guide for selecting a reference population for an unstudied population.     

基于真实人体边界模型的电阻抗断层成像研究

对真实人体边界模型的电阻抗断层成像进行实现,研究其成像特点。提取CT(computerized tomography)图片中先验信息,得到基于真实人体轮廓外形的模型,利用等位线反投影算法进行仿真研究。结果表明:可以较好地反映多种不同扰动的变化,具有一定程度的目标分辨率和识别率,并可以对扰动目标实现较好的定位。说明基于真实人体边界模型的电阻抗断层成像实现是可行的,结果是可靠的,这种重构模型使得重构结果更趋近于真实人体情况,为临床研究做出初步尝试。     

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30–40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intellectual disability, are not completely penetrant and vary in severity between patients, suggesting the involvement of variants elsewhere in the genome in the manifestation of the phenotype. Given that it is a relatively rare disorder (1/2000-6000 in humans), limited research has shed light into the contribution of these second-site variants to the developmental pathogenesis that underlies 22q11DS. As CNVs throughout the genome might constitute such a genetic risk factor for variability in the 22q11DS phenotypes such as intellectual disability, we sought to determine if the overall burden of rare CNVs in the genetic background influenced the phenotypic variability. We analyzed CNV and clinical data from 66 individuals with 22q11DS, and found that 77% (51/66) of individuals with the 22q11DS also carry additional rare CNVs (<0.1% frequency). We observed several trends between CNV burden and phenotype, including that the burden of large rare CNVs (>200 Kb in size) was significantly higher in 22q11DS individuals with intellectual disability than with normal IQ. Our analysis shows that rare CNVs may contribute to intellectual disability 22q11DS, and further analysis on larger 22q11DS cohorts should be performed to confirm this correlation.     

上海市高知女性跟骨骨密度测定：197个结果分析

背景：研究表明,女性骨峰值低于男性,而不同地区人群骨矿含量存在差异,因此有必要建立各地区不同人群的峰值骨密度。 目的：调查上海市高知女性骨密度随年龄、体质量指数等变化规律。 方法：纳入27~62岁高知女性受试者共197例,5岁为一个年龄段,共分为7组。准确记录各组受试者年龄,身高及体质量,并采用超声波骨密度仪测定各组受试者跟骨骨密度。用逐步回归分析各组骨峰值与年龄、体质量和握力的相关性。 结果与结论：研究结果显示上海市女性骨量峰值出现在38~39岁年龄段。骨密度值的下降率在31~35岁和41~45岁下降幅度最大。逐步回归分析结果显示,上海高知女性骨峰值与年龄、体质量、握力成正相关,年龄对骨峰值的影响最为明显,峰值骨量越低或出现越早,发生骨质疏松的危险越大。结果表明上海市高知女性群体发生骨质疏松的危险性较大。     

Medical Supplies Shortages and Burnout among Greek Health Care Workers during Economic Crisis: a Pilot Study

Greece has been seriously affected by the economic crisis. In 2011 there were reports of 40% reduction to public hospital budgets. Occasional shortages of medical supplies have been reported in mass media. We attempted to pivotally investigate the frequency of medical supplies shortages in two Greek hospital units of the National Health System and to also assess their possible impact on burnout risk of health care workers. We conducted a cross-sectional study (n=303) of health care workers in two Greek hospitals who were present at the workplace during a casually selected working day (morning shift work). The Maslach Burnout Inventory (MBI) was used as the measure of burnout. An additional questionnaire was used about demographics, and working conditions (duration of employment, cumulative night shifts, type of hospital including medical supplies shortages and their impact on quality of healthcare. The prevalence of emotional exhaustion, depersonalization and low personal accomplishment was 44.5%, 43.2% and 51.5%, respectively. Medical supply shortages were significantly associated with emotional exhaustion and depersonalization. This finding provides preliminary evidence that austerity has affected health care in Greece. Moreover, the medical supply shortages in Greek hospitals may reflect the unfolding humanitarian crisis of the country.     

The attitudes of medical students toward the importance of understanding classical Greek and Latin in the development of an anatomical and medical vocabulary

Students on entering medical school are faced with acquiring new, and voluminous, anatomical and medical terminologies. A reason why acquiring these terminologies may be problematic relates to the fact that many terms are derived from classical Greek and Latin; languages nowadays that are rarely taught at school. It might also be supposed that the often reported reduction in exposure to anatomy, and time spent in the dissection room, impairs the students' knowledge and understanding of anatomical relationships, and thus further complicates the acquisition of the terminologies. To date, there have been no studies that have quantified the attitudes of medical students toward the importance of understanding classical Greek and Latin during their medical training. In order to assess these attitudes, this study was undertaken for the newly‐recruited (First Year) medical students and for the Final Year medical students at Cardiff University. They were provided with a brief questionnaire that was devised in accordance with Thurstone and Chave (1951) principles and with ethical approval. One hundred and eighty First Year students and one hundred and nineteen Final Year students responded. Our initial hypothesis was that students throughout the medical curriculum have an unfavorable attitude toward the importance of classical Greek and Latin. This hypothesis was supported by the attitudes of the Final Year students but not by the First Year medical students. While we would still advocate that First Year medical students should acquire some understanding of and have some formal or informal instruction in, classical Greek and Latin as they pertain to medical terminologies, we acknowledge that Final Year students are likely to have become reasonably well‐versed in the origins of medical terminologies without formal instruction. Clin. Anat. 29:696–701, 2016. © 2016 Wiley Periodicals, Inc.     

Greeks, British Greek Cypriots and Londoners: a comparison of morbidity

This paper reports the results of a comparison of the rates of psychiatric disorder from three general population surveys in which the PSE-ID-CATEGO system was used for case-definition. These surveys were of an English sample in Camberwell, London, and of two Greek samples, the first in Athens, the second of Greek Cypriot immigrants living in Camberwell. The results show that the rates of psychiatric disorders in both Greek samples were somewhat higher than those of the Camberwell population, the differences being accounted for by higher rates of anxiety disorders, especially in women. Comparisons in terms of syndrome profiles showed that Greeks reported more symptoms of generalized anxiety than their English counterparts who, in their turn, reported higher rates of obsessive symptoms, and symptoms of social anxiety. The higher rates in the Greek samples were possibly due to an increased frequency of non-specific neurotic symptoms like worrying and tension. The results of other European community surveys with the PSE suggest that there might be a genuine and general North-South difference in the expression of psychological distress. Cultural differences in terms of personality traits and culturally sanctioned child rearing practices might account for the findings.     

A feedback model reproduces muscle activity during human postural responses to support-surface translations

Although feedback models have been used to simulate body motions in human postural control, it is not known whether muscle activation patterns generated by the nervous system during postural responses can also be explained by a feedback control process. We investigated whether a simple feedback law could explain temporal patterns of muscle activation in response to support-surface translations in human subjects. Previously, we used a single-link inverted-pendulum model with a delayed feedback controller to reproduce temporal patterns of muscle activity during postural responses in cats. We scaled this model to human dimensions and determined whether it could reproduce human muscle activity during forward and backward support-surface perturbations. Through optimization, we found three feedback gains (on pendulum acceleration, velocity, and displacement) and a common time delay that allowed the model to best match measured electromyographic (EMG) signals. For each muscle and each subject, the entire time courses of EMG signals during postural responses were well reconstructed in muscles throughout the lower body and resembled the solution derived from an optimal control model. In ankle muscles, >75% of the EMG variability was accounted for by model reconstructions. Surprisingly, >67% of the EMG variability was also accounted for in knee, hip, and pelvis muscles, even though motion at these joints was minimal. Although not explicitly required by our optimization, pendulum kinematics were well matched to subject center-of-mass (CoM) kinematics. Together, these results suggest that a common set of feedback signals related to task-level control of CoM motion is used in the temporal formation of muscle activity during postural control.     

Stem Cells in Liver Regeneration and Their Potential Clinical Applications

Stem cells constitute a population of “primitive cells” with the ability to divide indefinitely and give rise to specialized cells under special conditions. Because of these two characteristics they have received particular attention in recent decades. These cells are the primarily responsible factors for the regeneration of tissues and organs and for the healing of lesions, a feature that makes them a central key in the development of cell-based medicine, called Regenerative Medicine. The idea of wound and organ repair and body regeneration is as old as the mankind, reflecting the human desire for inhibiting aging and immortality and it is first described in the ancient Greek myth of Prometheus. It is of interest that the myth refers to liver, an organ with remarkable regenerative ability after loss of mass and function caused by liver injury or surgical resection. Over the last decade there has been an important progress in understanding liver physiology and the mechanisms underlying hepatic development and regeneration. As liver transplantation, despite its difficulties, remains the only effective therapy for advanced liver disease so far, scientific interest has nowadays been orientated towards Regenerative Medicine and the use of stem cells to repair damaged liver. This review is focused on the available literature concerning the role of stem cells in liver regeneration. It summarizes the results of studies concerning endogenous liver regeneration and stem cell experimental protocols. Moreover, this review discusses the clinical studies that have been conducted in humans so far.