45 research outputs found

    A case report of recurrent achondroplasia in fetuses of normal parents

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    Achondroplasia, a skeletal dysplasia has an incidence of 1 in 15000 to 1 in 30000 live births. It is inherited in an autosomal dominant manner. The occurrence of recurrent achondroplasia in babies born to normal parents is rare. The present case report is one such type. A female fetus of 27 weeks gestational age was brought to the Department of Anatomy, Karpaga Vinayaga Institute of Medical Sciences, Maduranthagam. There was frontal bossing of forehead, rhizomelic type of limb shortening with limitation of elbow extension in the fetus. The mother of the fetus, who is 26 years old, gave history of recurrence of such condition. Her first pregnancy was a twin pregnancy, conceived by natural methods, where one of the twins was a male baby who also had achondroplasia and died 2 hours after delivery. The other twin is a girl and the child has delayed developmental milestones. Her second pregnancy was uneventful. The present fetus under study is from her third pregnancy. Her marriage is of second degree consanguineous type. The age of her husband is 36 years old. Germinal mosaicism has been attributed for the causation of recurrent achondroplasia in children, whose parents are normal. 80% of achondroplasia is due to a new mutation. Only 20% of achondroplasia is inherited. Increased paternal age is a risk factor for new mutations to occur. The other investigations of the case and the genetic analysis are described further in the article

    Ecotoxicological impacts of landfill sites: Towards risk assessment, mitigation policies and the role of artificial intelligence.

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    Waste disposal in landfills remains a global concern. Despite technological developments, landfill leachate poses a hazard to ecosystems and human health since it acts as a secondary reservoir for legacy and emerging pollutants. This study provides a systematic and scientometric review of the nature and toxicity of pollutants generated by landfills and means of assessing their potential risks. Regarding human health, unregulated waste disposal and pathogens in leachate are the leading causes of diseases reported in local populations. Both in vitro and in vivo approaches have been employed in the ecotoxicological risk assessment of landfill leachate, with model organisms ranging from bacteria to birds. These studies demonstrate a wide range of toxic effects that reflect the complex composition of leachate and geographical variations in climate, resource availability and management practices. Based on bioassay (and other) evidence, categories of persistent chemicals of most concern include brominated flame retardants, per- and polyfluorinated chemicals, pharmaceuticals and alkyl phenol ethoxylates. However, the emerging and more general literature on microplastic toxicity suggests that these particles might also be problematic in leachate. Various mitigation strategies have been identified, with most focussing on improving landfill design or leachate treatment, developing alternative disposal methods and reducing waste volume through recycling or using more sustainable materials. The success of these efforts will rely on policies and practices and their enforcement, which is seen as a particular challenge in developing nations and at the international (and transboundary) level. Artificial intelligence and machine learning afford a wide range of options for evaluating and reducing the risks associated with leachates and gaseous emissions from landfills, and various approaches tested or having potential are discussed. However, addressing the limitations in data collection, model accuracy, real-time monitoring and our understanding of environmental impacts will be critical for realising this potential

    Understanding How Microplastics Affect Marine Biota on the Cellular Level Is Important for Assessing Ecosystem Function: A Review

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    Plastic has become indispensable for human life. When plastic debris is discarded into waterways, these items can interact with organisms. Of particular concern are microscopic plastic particles (microplastics) which are subject to ingestion by several taxa. This review summarizes the results of cutting-edge research about the interactions between a range of aquatic species and microplastics, including effects on biota physiology and secondary ingestion. Uptake pathways via digestive or ventilatory systems are discussed, including (1) the physical penetration of microplastic particles into cellular structures, (2) leaching of chemical additives or adsorbed persistent organic pollutants (POPs), and (3) consequences of bacterial or viral microbiota contamination associated with microplastic ingestion. Following uptake, a number of individual-level effects have been observed, including reduction of feeding activities, reduced growth and reproduction through cellular modifications, and oxidative stress. Microplastic-associated effects on marine biota have become increasingly investigated with growing concerns regarding human health through trophic transfer. We argue that research on the cellular interactions with microplastics provide an understanding of their impact to the organisms’ fitness and, therefore, its ability to sustain their functional role in the ecosystem. The review summarizes information from 236 scientific publications. Of those, only 4.6% extrapolate their research of microplastic intake on individual species to the impact on ecosystem functioning. We emphasize the need for risk evaluation from organismal effects to an ecosystem level to effectively evaluate the effect of microplastic pollution on marine environments. Further studies are encouraged to investigate sublethal effects in the context of environmentally relevant microplastic pollution conditions

    Editorial: Challenges in characterizing nano- to macro-plastics and adhered substances in the aquatic environment

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    Globally, plastic contamination is one of the serious planetary threats, affecting almost all environmental matrices such as air, water, soil, sediment, and biota (including humans). It is estimated that ∼19 to 23 million metric tonnes of plastic waste were generated and entered the environment in 2016, worldwide (Borrellee et al., 2020). Moreover, as the trend goes, the predicted growth in plastic waste may exceed efforts to mitigate plastic pollution around the world. Even with immediate and concerted action, it is estimated that 710 million tons of plastic waste will enter the aquatic and terrestrial ecosystems by 2040 (Lau et al., 2020). Therefore, many countries around the world are struggling to manage the current volume of plastic waste and plastic contamination in the environment. Based on the size, plastic waste is categorized into nanoplastics (1 nm to 5 mm to <10 mm), and macroplastics (≥10 mm). Plastic itself can be a pollutant, but it can also act as a vector to transport toxic chemicals (e.g., persistent organic pollutants, trace metals, pesticides, and antibiotics) and harmful organisms (e.g., pathogens and invasive species) to pristine ecosystems. Therefore, these pollutants are of great public concern due to their ubiquitous nature and the potential hazards posed for humans and ecosystems.We wish to thank the Frontiers in Environmental Science Editorial Office, especially Sara Ceci and Petia Apostolova for their valuable guidance during the entire publication period. The work was also supported by Qatar Energy funded project (QUEX-ESC-QP-TM-18/19) and “UNESCO Chair in Marine Sciences” related to the theme “Marine pollution and Management”

    Accelerated partial breast irradiation using external beam radiotherapy—A feasibility study based on dosimetric analysis

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    AimTo investigate the feasibility of using External Beam radiotherapy for accelerated partial breast irradiation by a comparative tumour and normal tissue dose volume analysis with that of high dose rate interstitial brachytherapy.BackgroundAccelerated Partial Breast Irradiation (APBI) is more clinically appealing because of the reduced treatment course duration and the irradiated area. Brachytherapy application is more dependent on the clinician's expertise when it is practised free hand without image guidance and a template. It happens to be an invasive procedure with the use of local anaesthesia which adds patient discomfort apart from its cost compared to External Beam Radiotherapy. But APBI with brachytherapy is more commonly practised procedure compared to EBRT owing to its previous reults. Hence in this research study, we intend to explore the use of EBRT with the radiobiological corrections for APBI in the place of brachytherapy. It is done as a dosimetric comparison of Brachytherapy treatment plans with that of EBRT plans.Materials and methodsThe computed tomography images of 15 patients undergoing ISBT planning were simulated with conformal photon fields. Various dose volume parameters of each structure were obtained from the DVH generated in the brachytherapy and the simulated external beam planning which can correlate well with the late toxicity. The plan quality indices such as conformity index and homogeneity index for the target volume were computed from the dosimetric factors. The statistical p values for CI, HI and normal tissue dosimetric parameters were calculated and the confidence levels achievable were analysed. The dose prescribed in brachytherapy was 3400cGy in ten fractions. The equivalent prescription dose for the external beam radiotherapy planning was 3000cGy in five fractions applied with radiobiological correction.ResultsAll the fifteen patients were with complete lung data and six were with left sided tumours having complete cardiac data. The lung dosimetry data and the cardiac dosimetry data of the patients were studied. Lower percentages of lung and cardiac V20 and V5 volumes were obtained with conformal planning. The conformity of radiation dose to the tumour volume was akin to the interstitial brachytherapy planning. Moreover the external beam planning resulted in more homogenous dose distribution. For the sampled population, the statistical analysis showed a confidence level of 95% for using EBRT as an alternate to multi catheter ISBT.ConclusionThe EBRT planning for Accelerated Partial Breast Irradiation was found to be technically feasible in the institution where the interstitial brachytherapy happens to be the only available technique as evident from the dose volume parameters and the statistical analysis
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