Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan–Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Performance evaluation of sustainable concrete comprising waste polypropylene food tray fibers and palm oil fuel ash exposed to sulfate and acid attacks

Sulfate and acid attacks cause material degradation, which is a severe durability concern for cementitious materials. The performance of concrete composites comprising waste plastic food trays (WPFTs) as low-cost fibers and palm oil fuel ash (POFA) exposed to acid and sulfate solutions has been evaluated in an immersion period of 12 months. In this study, visual assessment, mass variation, compressive strength, and microstructural analyses are investigated. For ordinary Portland cement (OPC), six concrete mixtures, including 0–1% WPFT fibers with a length of 20 mm, were prepared. In addition, another six mixtures with similar fiber dosages were cast, with 30% POFA replacing OPC. It was discovered that adding WPFT fibers and POFA to concrete reduced its workability. POFA concrete mixes were found to have higher long-term compressive strength than OPC concrete mixes cured in water. As a result of the positive interaction between POFA and WPFT fibers, both the crack formation and spalling of concrete samples exposed to acid and sulfate solutions were reduced, as was the strength loss. The study’s findings show that using WPFT fibers combined with POFA to develop a novel fiber-reinforced concrete subjected to chemical solutions is technically and environmentally feasible. WPFT fibers have a significant protective effect on concrete against chemical attacks

Synergistic effects of waste plastic food tray as low-cost fibrous materials and palm oil fuel ash on transport properties and drying shrinkage of concrete

Waste plastic recycling is an essential step toward a green environment and a circular economy. Plastics, which are non-biodegradable polymers that come in various forms, have become an essential part of human life. The quick growth of the world's population has increased the need for plastics in different sectors such as food packaging. Consequently, adequate management of plastic waste recycling is critical to preventing environmental emissions from these wastes. In this study, experimental investigations were performed to determine the possibility of using polypropylene type of waste plastic food trays (WPFT) as low-cost fibres to improve the strength and durability performance of concrete. WPFT fibres with a length of 20 mm and dosages of 0–1% were used in concrete mixtures. The outcomes revealed that the inclusion of WPFT fibres decreased the workability of fresh concrete and the compressive strength. Despite a slight decrease in compressive strength, WPFT fibres' addition significantly increased the tensile strength by about 31% and reduced concrete's drying shrinkage by 35%. Besides, with fibre dosages of up to 0.6%, chloride penetration depth and sorptivity were remarkably decreased. The findings indicated that the use of WPFT fibres to manufacture sustainable concrete has a promising future. Concrete comprising waste plastics also leads to the conservation of natural resources and minimises solid wastes

Effects of waste ceramic as cement and fine aggregate on durability performance of sustainable mortar

In the last 3 decades, the attention in consuming substitute materials such as solid wastes in construction has grown continuously. An extensive amount of waste ceramic is being generated all around the world. These wastes are mostly sent to the landfill without considering recycling option. Such waste ceramic in the powder and fine particle forms has good potential in the infrastructure industry. In this study, the strength and durability properties of a mortar comprising ceramic waste powder as supplementary cementing material and ceramic particles were investigated. Properties studied include workability, compressive and tensile strengths, chloride and sulfate resistance. The effect of waste ceramic was also assessed by using scanning electron microscopy and X-ray diffraction analysis. It was observed that the utilization of waste ceramic in both forms of binder and fine aggregate significantly improved the compressive and splitting tensile strengths and higher resistance against chloride and sulfate attacks. The microstructure of the mortar was further enhanced by replacing ceramic waste powder and fine aggregates. It, therefore, caused in the higher crystalline formation and reduction in porosity and cracks in addition to eliminating the spalling behavior of mortar specimens exposed to chloride and sulfate attacks

Bio-inspired self-healing of concrete cracks using new b. Pseudomycoides species

Bio-inspired self-healing of concrete cracks has been widely exploited to improve concrete properties and thus increase concrete life span using different bacterial species in recent years. The most common bacterial species found in the present literature are B. sphaericus, Sporosarcina pasteurii, Spore-forming alkali-resistant bacteria, B. megaterium and B. subtilis, while there is no published research using B. pseudomycoides species to heal concrete cracks. Furthermore, the need for more in-depth information on the healing ratio in the deeper part of the concrete crack remains. In the present study, a new bacterial species, namely B. pseudomycoides strain HASS3, was isolated, identified and tested for its ability to heal artificially cracked concrete samples. Both variable-pressure scanning electron microscope (VP-SEM) and X-ray computed microtomography (X-ray μCT) were utilised to assess the evolution of the healing ratio along with the crack profile. VP-SEM results revealed that a crack mouth width of 0.4 mm was fully healed through microbial precipitation which was later identified as calcite and vaterite using XRD. In contrast, according to the X-ray μCT results, the maximum healing ratio in the deeper part of the crack was only 14% compared to the crack mouth. As such, it could be concluded that bacteria-based concrete self-healing could function as a sustainable strategy to heal cracks located in the concrete skin