Thoughts on the origin and nature of life and intelligence on earth

Believing, for good reasons, that our Universe engenders the occurrence of Life, it is probable that Life appeared more than once on young planet Earth. The universality of our genetic code indicates though, that only one line produced a population that was cellular, autopoietic, responsive intelligently (i.e., to its advantage) to its environment, and capable of reproduction. Its evolution took time during which other intermediate or incipient forms of life disappeared. Trying to retrace ab initio the preceding chemical evolution on our young planet, we may not repeat the chemistry which led to our line. One can argue that it may be profitable to attempt to construct artificial life forms using the kind of building blocks that we learned to know through studying the chemistry of our life. Independently, computers are being built, or are planned, which possess memory that can be used appropriately (intelligently), and which to some extent can repair and reproduce themselves. Such Life does not depend on our biochemistry. However, these machines do perform as yet only partly along the lines of our human intelligence which is guided by self-awareness and a sense of individual integrity, and are thereby not equipped to search for Understanding and Self-expression.     

神经肌肉关节促进训练对脑性瘫痪患儿智力及肢体功能的影响

摘要 目的：探讨神经肌肉关节促进训练对脑性瘫痪(cerebral palsy,CP,脑瘫)患儿智力及肢体功能的影响。方法：2016年12月到2018年12月选择在本院儿保科门诊就诊的脑瘫患儿134例,根据治疗方法分为观察组与对照组,各67例。对照组给予常规康复训练,观察组在对照组给予神经肌肉关节促进训练,两组康复观察3个月,记录智力及肢体功能变化情况。结果：观察组的总有效率为98.5 %,高于对照组的83.6 %(P<0.05)。两组康复后的粗大运动功能测试量表(gross motor function measure, GMFM)评分都高于康复前(P<0.05),观察组高于对照组(P<0.05)。两组康复后的适应与语言行为评分都高于康复前(P<0.05),观察组也高于对照组(P<0.05)。两组康复后的F波振幅高于康复前(P<0.05),阈值低于康复前(P<0.05),康复后观察组与对照组对比差异也都有统计学意义(P<0.05)。结论：神经肌肉关节促进训练在脑瘫患儿的应用能促进改善智力及肢体功能,重建患儿的肌电功能,从而提高治疗效果。     

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event

Fragile X syndrome is caused by the expansion of an unstable CGG repeat in the 5′UTR of FMR1 gene. The occurrence of mosaicism is not uncommon, especially in male patients, whereas in females it is not so often reported. Here we report a female foetus that was subject to prenatal diagnosis, because of her mother being a premutation carrier. The foetus was identified as being a mosaic for an intermediate allele and a full mutation of FMR1 gene, in the presence of a normal allele. The mosaic status was confirmed in three different tissues of the foetus – amniotic fluid, skin biopsy and blood – the last two obtained after pregnancy termination. Karyotype analysis and X-chromosome STR markers analysis do not support the mosaicism as inheritance of both maternal alleles. Oligonucleotide array-CGH excluded an imbalance that could contain the primer binding site with a different repeat size. The obtained results give compelling evidence for a postzygotic expansion mechanism where the foetus mosaic pattern originated from expansion of the mother's premutation into a full mutation and consequent regression to an intermediate allele in a proportion of cells. These events occurred in early embryogenesis before the commitment of cells into the different tissues, as the three tested tissues of the foetus have the same mosaic pattern. The couple has a son with Fragile X mental retardation syndrome and choose to terminate this pregnancy after genetic counselling.     

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia

Isovaleric acidemia (IVA) is a rare autosomal recessive disorder caused by a deficiency of isovaleryl-CoA dehydrogenase encoded by IVD gene. In this case study we report the first Saudi IVA patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype–genotype correlation of the disease in the Saudi population. We explored the functional consequences of the mutation by using various bioinformatics prediction algorithms and discussed the likely mechanism of the disease caused by the mutation.     

全自动生化分析仪的发展及市场概况

随着中国国内城乡国民医疗保险事业的普及和持续发展,城乡各级医院生化实验室应用自动生化分析仪的需求越来越迫切。本文就其现状作一基本论述。     

Spontaneous tool-use: an observation of a dingo (Canis dingo) using a table to access an out-of-reach food reward

Opportunities to observe non-human animals exhibiting naturalistic 'high-order' behaviour are rare. Examples featuring canids, although often anecdotal and involving captive animals are potentially valuable, as they may provide an opportunity to examine complex problem-solving behaviour not easily observed in free-ranging settings. This paper describes observations of two captive male dingoes (Canis dingo), representing possible examples of high-order behaviour. The first set of observations involved a sub-adult male that spontaneously (i.e., without training) learned to move objects around his enclosure, apparently to multiple ends, such as in an effort to gain the additional height required to attain objects otherwise out of reach, or to attain a better view of his surroundings. The second set of observations involved an adult male that learned to open a gate, possibly in an effort to gain access to a female. These observations add to the small number of anecdotal accounts offering a window into the cognitive abilities of canids, and the observations involving the sub-adult male appear to be the first documented cases of tool-use in a canid.     

The use of an incremental repeated acquisition task to assess learning in children

The development of valid animal models of learning is especially important since learning is critical for nearly all aspects of human behavior and identifying appropriate surrogates provides additional opportunity to study various aspects of learning. Examining the factors that affect learning is often complicated by the need to administer the same task repeatedly across experimental conditions. Incremental repeated acquisition (IRA) tasks have been used extensively in animal research because they circumvent this problem by requiring a subject to learn different response chains repeatedly across sessions. The present study examined the association of age, sex of the participant, and IQ on the performance of an incremental repeated acquisition task in 837 children, aged 5-13 years. This task required children to learn to press four response levers in a specific sequence that was randomly chosen. Illumination of colored indicator lights signaled position in the required response chain. Initially, for the first link, only one of the four levers was correct: a response to it resulted in the delivery of a monetary reinforcer (5 cents). After mastery of the first link (i.e. three correct presses), the children were presented with a two-link response chain: a different lever had to be pressed before pressing the previously correct lever. After mastery of the two-link chain, the response chain length was once again increased, and so on until a response chain consisting of six links was completed or until the task timed out. Older children and children with higher IQs mastered longer response chain lengths and were more accurate in performance of this learning task than younger children. In addition, older children and children with higher IQs had higher effective response rates and lower ineffective response rates. No significant effects of the sex of the participant were demonstrated for any of the variables on this task, except overall response rate. The results indicate that this test is sensitive to developmental variables in children, with the degree of sensitivity of certain dependent variables being age-dependent. Characterization of performance of this task by humans facilitates comparisons with animal models employing the same task, thus enhancing its translational utility.     

Essential conditions for evolution of communication within a species

A major obstacle in analyzing the evolution of information exchange and processing is our insufficient understanding of the underlying signaling and decision-making biological mechanisms. For instance, it is unclear why are humans unique in developing such extensive communication abilities. To treat this problem, a method based on the mutual information approach is developed that evaluates the information content of communication between interacting individuals through correlations of their behavior patterns (rather than calculating the information load of exchanged discrete signals, e.g. Shannon entropy). It predicts that correlated interactions of the indirect reciprocity type together with affective behavior and selection rules changing with time are necessary conditions for the emergence of significant information exchange. Population size variations accelerate this development. These results are supported by evidence of demographic bottlenecks, distinguishing human from other species’ (e.g. apes) evolution line. They indicate as well new pathways for evolution of information based phenomena, such as intelligence and complexity.     

智力低下患者的手纹分析

本文对安徽合肥和芜湖地区284例（男145人,女139人）2－59岁智力低下患者的手纹进行了分析。结果表明：患者的皮纹参数与正常对照组有明显的统计学差异,其中尺箕、箕／箕组合、帐弓、皮纹密度、atd角、t距比、掌褶通贯型、悉尼型、过渡Ⅰ型和小指短小类型等项参数均高于对照组（P＜0.01);而简斗、斗／斗组合、a-dRC、t-dRC低于对照组（P＜0.01),a-bRC亦低于对照组（P＜0.05)。这些皮纹参数可以作为智力低下患者的辅助诊断指标。     

Artificial Intelligence in magnetic Resonance guided Radiotherapy: Medical and physical considerations on state of art and future perspectives

Over the last years, technological innovation in Radiotherapy (RT) led to the introduction of Magnetic Resonance-guided RT (MRgRT) systems.Due to the higher soft tissue contrast compared to on-board CT-based systems, MRgRT is expected to significantly improve the treatment in many situations. MRgRT systems may extend the management of inter- and intra-fraction anatomical changes, offering the possibility of online adaptation of the dose distribution according to daily patient anatomy and to directly monitor tumor motion during treatment delivery by means of a continuous cine MR acquisition.Online adaptive treatments require a multidisciplinary and well-trained team, able to perform a series of operations in a safe, precise and fast manner while the patient is waiting on the treatment couch.Artificial Intelligence (AI) is expected to rapidly contribute to MRgRT, primarily by safely and efficiently automatising the various manual operations characterizing online adaptive treatments. Furthermore, AI is finding relevant applications in MRgRT in the fields of image segmentation, synthetic CT reconstruction, automatic (on-line) planning and the development of predictive models based on daily MRI.This review provides a comprehensive overview of the current AI integration in MRgRT from a medical physicist’s perspective. Medical physicists are expected to be major actors in solving new tasks and in taking new responsibilities: their traditional role of guardians of the new technology implementation will change with increasing emphasis on the managing of AI tools, processes and advanced systems for imaging and data analysis, gradually replacing many repetitive manual tasks.