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.     

Toward optimizing vision and cognition in term infants by dietary docosahexaenoic and arachidonic acid supplementation: A review of randomized controlled trials

The question of whether a dietary supply of docosahexaenoic acid (DHA) and arachidonic acid (ARA) imparts advantages to visual or cognitive development in term infants has been debated for many years. DHA and ARA are present in human milk, and nursing infants consume these fatty acids needed for rapid synthesis of cell membranes, particularly neural cells. The reported mean DHA and ARA levels of human milk worldwide are 0.32% and 0.47% of total fatty acids, respectively. Prior to 2002 in the US, formula-fed infants did not receive these fatty acids and relied solely on endogenous conversion of the dietary essential omega-3 (n-3) and omega-6 (n-6) fatty acids, α-linolenic and linoleic acids, to DHA and ARA, respectively. Formula-fed infants were found to have significantly less accretion of DHA in brain cortex after death than breastfed infants. Numerous studies have found positive correlations between blood DHA levels and improvements in cognitive or visual function outcomes of breastfed and formula-fed infants. Results of randomized controlled clinical trials of term formula-fed infants evaluating functional benefits of dietary DHA and ARA have been mixed, likely due to study design heterogeneity. A comparison of visual and cognitive outcomes in these trials suggests that dietary DHA level is particularly relevant. Trials with formulas providing close to the worldwide human milk mean of 0.32% DHA were more likely to yield functional benefits attributable to DHA. We agree with several expert groups in recommending that infants receive at least 0.3% DHA, with at least 0.3% ARA, in infant feedings; in addition, some clinical evidence suggests that an ARA:DHA ratio greater than 1:1 is associated with improved cognitive outcomes.     

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.     

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.     

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。     

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。     

脑梗死后智能障碍影响因素分析

目的 探讨影响脑梗死后智能障碍的因素。方法 应用长谷川痴呆量表对249例经CT证实的脑梗死患者进行智能测评,评分0～21．5为智能障碍组,22～32．5为正常组,探讨智能障碍的发生与性别、年龄、文化程度、卒中主要危险因素(高血压和糖尿病)、梗死灶数量及体积,以及脑萎缩和脑白质疏松之间的相互关系．结果 249例脑梗死患者中有106例(42．6％)出现智能障碍．并发现年龄、性别、文化程度、高血压病、糖尿病与智能障碍的发生有关;梗死灶的数量越多、体积越大其智能障碍发生率越高;脑萎缩及脑白质疏松与智能障碍关系密切．结论 脑梗死后智能障碍是多因素相互作用的结果,与梗死灶数量、体积、脑萎缩及脑白质疏松等多种因素有关．     

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。     

Learning, working memory, and intelligence revisited

Based on early findings showing low correlations between intelligence test scores and learning on laboratory tasks, psychologists typically have dismissed the role of learning in intelligence and emphasized the role of working memory instead. In 2006, however, B.A. Williams developed a verbal learning task inspired by three-term reinforcement contingencies and reported unexpectedly high correlations between this task and Raven's Advanced Progressive Matrices (RAPM) scores [Williams, B.A., Pearlberg, S.L., 2006. Learning of three-term contingencies correlates with Raven scores, but not with measures of cognitive processing. Intelligence 34, 177-191]. The present study replicated this finding: Performance on the three-term learning task explained almost 25% of the variance in RAPM scores. Adding complex verbal working memory span, measured using the operation span task, did not improve prediction. Notably, this was not due to a lack of correlation between complex working memory span and RAPM scores. Rather, it occurred because most of the variance captured by the complex working memory span was already accounted for by the three-term learning task. Taken together with the findings of Williams and Pearlberg, the present results make a strong case for the role of learning in performance on intelligence tests.     

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.