Tetracoding increases with body temperature in Lepidosauria

Codons expanded by a silent position (quadruplet or tetracodons) may solve the conundrum that at life's origins, the weak tricodon–anticodon interactions could not promote translation in the absence of complex ribosomes. Modern genomes have isolated tetracodons resulting from insertion mutations. Some bioinformatic analyses suggest that tetracoding stretches overlap with regular mitochondrial protein coding genes. These tetragenes are probably decoded by (antisense) tRNAs with expanded anticodons. They are GC-rich, which produce stronger basepairs than A:T interactions, suggesting expression at high temperatures. The hypothesis that tetracoding is an adaptation to high temperatures is tested here by comparing predicted mitochondrial tetracoding in Lepidosauria (lizards, amphisbaenia, and Sphenodon), in relation to body temperature, expecting more tetracoding in species with high body temperature. The association between tRNAs with expanded anticodons and tetracoding previously described for mammals and Drosophila is confirmed for Lepidosauria. Independent evidence indicates that tetracoding increases with body temperature, supporting the hypothesis that tetracoding is an adaptation for efficient translation when conditions (temperature) make triplet codon-anticodons too unstable to allow efficient protein elongation.     

A 5q12.1–5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement

Complex chromosomal rearrangements are very rare chromosomal abnormalities. Individuals with a complex chromosomal rearrangement can be phenotypically normal or display a clinical abnormality. It is believed that these abnormalities are due to either microdeletions or microduplications at the translocation breakpoints or as a result of disruption of the genes located in the breakpoints. In this study we describe a 2-year-old child with mental retardation and developmental delay in whom a de novo apparently balanced exceptional complex chromosomal rearrangement was found through conventional cytogenetic analysis. Using both cytogenetic and FISH analysis, the patient's karyotype was found to be: 46,XY,der(5)t(5;7)(p15.1;7q34),t(5;8)(q13.1;8q24.1)dn. A large, clinically significant deletion which encompassed 887.69 kb was detected at the 5q12.1–5q12.3 (chr5:62.886.523–63.774.210) genomic region using array-CGH. This deleted region includes the HTR1A and RNF180 genes. This is the first report of an individual with an apparently balanced complex chromosomal rearrangement in conjunction with a microdeletion at 5q12.1–5q12.3 in which there are both mental-motor retardation and dysmorphia.     

Alternative development in Polystoma gallieni (Platyhelminthes,Monogenea) and life cycle evolution

Considering the addition of intermediate transmission steps during life cycle evolution, developmental plasticity, canalization forces and inherited parental effect must be invoked to explain new host colonization. Unfortunately, there is a lack of experimental procedures and relevant models to explore the adaptive value of alternative developmental phenotypes during life cycle evolution. However, within the monogeneans that are characterized by a direct life cycle, an extension of the transmission strategy of amphibian parasites has been reported within species of Polystoma and Metapolystoma (Polyopisthocotylea; Polystomatidae). In this study, we tested whether the infection success of Polystoma gallieni within tadpoles of its specific host, the Stripeless Tree Frog Hyla meridionalis, differs depending on the parental origin of the oncomiracidium. An increase in the infection success of the parasitic larvae when exposed to the same experimental conditions as their parents was expected as an adaptive pattern of non-genetic inherited information. Twice as many parasites were actually recorded from tadpoles infected with oncomiracidia hatching from eggs of the bladder parental phenotype (1.63 ± 0.82 parasites per host) than from tadpoles infected with oncomiracidia hatching from eggs of the branchial parental phenotype (0.83 ± 0.64 parasites per host). Because in natural environments the alternation of the two phenotypes is likely to occur due to the ecology of its host, the differential infection success within young tadpoles could have an adaptive value that favors the parasite transmission over time.     

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India

BACKGROUND:

Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability.

MATERIALS AND METHODS:

A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.

RESULTS:

All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients.

CONCLUSION:

Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.     

壬基酚对金鱼（Carassiusauratus ）胚胎发育毒性的初步研究

目的:观察环境激素壬基酚(Nonylphenol,NP)对金鱼胚胎发育的毒性效应。方法:在繁殖季节选取雌雄健康成年金鱼,采用人工受精的方法获取金鱼受精卵于23℃培养箱孵育。将正常发育的囊胚早期金鱼胚胎(50枚胚胎/培养皿)分别暴露在1μmol·L~(-1)、4μmol·L~(-1)、8μmol·L~(-1)、12μmol·L~(-1)和16μmol·L~(-1)的NP实验液中,设空白对照。通过显微成像技术观察NP暴露对金鱼胚胎发育形态、不同发育阶段胚胎死亡率、受精后72小时(72 hpf)孵化率及畸形率的影响。从原肠期开始每隔12 h观察一次。结果:低浓度NP主要影响金鱼胚胎晚期发育,使其尾部脊索弯曲上翘;高浓度NP可导致金鱼胚胎卵凝结、发育延迟、组织坏死、尾部卷曲、体轴缩短并出现血栓。各发育阶段胚胎死亡率和72 hpf畸形率随NP浓度升高而增加,72 hpf孵化率则随NP浓度升高而降低;NP对金鱼胚胎24 h、48 h、72 h的半数致死浓度(LC50)分别为:16.28μmol·L~(-1)、8.27μmol·L~(-1)和6.52μmol·L~(-1)。结论:NP对金鱼胚胎具有明显发育毒性,金鱼胚胎对低浓度NP也具有较高敏感性,在评价环境激素胚胎发育毒性方面具有潜在应用价值。     

股骨短缩截骨全髋置换术治疗青年Crowe IV 型髋关节发育不良

目的：总结股骨短缩截骨结合全髋关节置换术治疗青年Crowe IV 型髋关节发育不良（DDH）的近期疗效。方法：2009 年1 月 至2015 年1 月期间我院收治的22 例（24 髋）青年Crowe IV 型髋关节发育不良患者,其中男4 例（5 髋）,女18 例（19 髋）,年龄 17~27 岁,平均22 岁。记录患者术前、术后髋关节功能Harris评分、髋关节疼痛VAS评分和下肢长度差异。收集患者临床及影像 学资料。结果：22 例患者均获随访,随访时间6～72 个月,平均38 个月。截骨端均骨性愈合,愈合时间3～ 6 个月,平均3.2 个月。 Harris 评分由术前（43.2 ± 2.7）分改善至（95.3 ± 2.8）分,效果显著（P＜0.01）,髋关节疼痛VAS评分由术前(6. 0 ± 1. 0)分改善至 (1.0 ± 0.5) 分,疼痛明显缓解（P＜0.05）,下肢长度差异由术前（55.5± 15.5）mm减少至（16.5± 5.5）mm,显著改善（P＜0.01）。术后2 例合并坐骨神经麻痹,但6 个月内症状完全缓解,6 例遗留轻度跛行。随访期间均无假体翻修,未发现材料与宿主的生物相容性反 应。结论：股骨短缩截骨全髋置换术治疗青年Crowe IV 型髋关节发育不良的近期疗效满意,术中综合考虑软组织松解程度与短缩 截骨方式及长度可有效的解决患者肢体短缩、避免神经血管损伤及改善患者术后髋关节功能。     

Measurement of some Benzylisoquinoline Alkaloids in Different Organs of Persian Poppy during Ontogenetical Stages

Papaver bracteatum, a perennial species, has been known as a rich source of thebaine and a potential alternative to Papaver somniferum for the production of codeine and some semisynthetic antagonist drugs. In this study, ion mobility spectrum (IMS) of the root, leaf, bottom part of stem, upper part of stem, capsule wall, petal, and capsule content during developmental stages of P. bracteatum including annual rosette, perennial rosette, bud initiation, pendulous bud, preflowering, and lancing were investigated. The IMS revealed thebaine, papaverine, and noscapine as the major components of the extracted alkaloids. Based on the results of the study it appears that, at least in part, there is a competition among the biosynthesis pathways of papaverine, noscapine, and morphinan alkaloids from a common source . Root and capsule wall were the most potent organs for extraction of thebaine, while lancing stage was the best developmental stage for thebaine exploitation. However, it seems that total biomass of root and capsule wall plays a key role in the final selection of favorite organ. Although papaverine and noscapine in the stem at preflowering stage had the most quantity, significant amounts were found in the capsule wall. In general, total alkaloid content of leaf was lower than the other plant parts.