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Nature Reviews. Disease Primers Sep 2023Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the... (Review)
Review
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management. Diagnostic considerations include phenotypic characterization, biomarkers, imaging, genetic testing, enzyme activity analysis and histology. Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in several hepatic GSDs, medically prescribed diets, appropriate exercise regimens and emergency letters. Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. The quality of life of patients with these conditions varies, and standard sets of patient-centred outcomes have not yet been developed. The landscape of novel therapeutics and GSD clinical trials is vast, and emerging research is discussed herein.
Topics: Humans; Quality of Life; Glycogen Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type I; Disease Progression
PubMed: 37679331
DOI: 10.1038/s41572-023-00456-z -
World Journal of Gastroenterology Jul 2023Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or... (Review)
Review
Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There are over 20 types of GSD including the subtypes. This heterogeneous group of rare diseases represents inborn errors of carbohydrate metabolism and are classified based on the deficient enzyme and affected tissues. GSDs primarily affect liver or muscle or both as glycogen is particularly abundant in these tissues. However, besides liver and skeletal muscle, depending on the affected enzyme and its expression in various tissues, multiorgan involvement including heart, kidney and/or brain may be seen. Although GSDs share similar clinical features to some extent, there is a wide spectrum of clinical phenotypes. Currently, the goal of treatment is to maintain glucose homeostasis by dietary management and the use of uncooked cornstarch. In addition to nutritional interventions, pharmacological treatment, physical and supportive therapies, enzyme replacement therapy (ERT) and organ transplantation are other treatment approaches for both disease manifestations and long-term complications. The lack of a specific therapy for GSDs has prompted efforts to develop new treatment strategies like gene therapy. Since early diagnosis and aggressive treatment are related to better prognosis, physicians should be aware of these conditions and include GSDs in the differential diagnosis of patients with relevant manifestations including fasting hypoglycemia, hepatomegaly, hypertransaminasemia, hyperlipidemia, exercise intolerance, muscle cramps/pain, rhabdomyolysis, and muscle weakness. Here, we aim to provide a comprehensive review of GSDs. This review provides general characteristics of all types of GSDs with a focus on those with liver involvement.
Topics: Humans; Glycogen Storage Disease; Liver; Glycogen; Muscle, Skeletal; Genetic Therapy
PubMed: 37476587
DOI: 10.3748/wjg.v29.i25.3932 -
Small Methods Aug 2023Recently, anion storage materials have gained significant attention owing to the widened cell voltage and additional anion storing capacity for a large energy density.... (Review)
Review
Recently, anion storage materials have gained significant attention owing to the widened cell voltage and additional anion storing capacity for a large energy density. MXenes are considered as the emerging anion storing materials owing to their sufficient interlayer spacing, rich surface chemistries, tunable structures, remarkable electrochemical properties, and mechanical integrity. Herein, a comprehensive review on the anion storage of MXenes covering their anion storage mechanism and state-of-the-art chemical strategies for the improved anion storage performances is reported. The recent progress of MXenes on aluminum ion batteries, metal halogen batteries, halogen ion batteries, and electrochemical electrode deionization is addressed. The scientific and technical challenges and the research direction into the anion storage of MXenes are also addressed and finally the authors' perspective on anion storage of MXenes is provided. Therefore, this review offers an insight into the rational design of MXenes for anion storage materials and the correlation of surface chemistries and structural modifications with anion storage properties for the applications into electrochemical energy storage and water purification.
PubMed: 36707415
DOI: 10.1002/smtd.202201440 -
ACS Nano Sep 2023In the era of rapidly evolving smart electronic devices, the development of power supplies with miniaturization and versatility is imperative. Prevailing manufacturing... (Review)
Review
In the era of rapidly evolving smart electronic devices, the development of power supplies with miniaturization and versatility is imperative. Prevailing manufacturing approaches for basic energy modules impose limitations on their size and shape design. Printing is an emerging technique to fabricate energy storage systems with tailorable mass loading and compelling energy output, benefiting from elaborate structural configurations and unobstructed charge transports. The derived "printable energy storage" realm is now focusing on materials exploration, ink formulation, and device construction. This contribution aims to illustrate the current state-of-the-art in printable energy storage and identify the existing challenges in the 3D printing design of electrodes. Insights into the future outlooks and directions for the development of this field are provided, with the goal of enabling printable energy storage toward practical applications.
PubMed: 37669402
DOI: 10.1021/acsnano.3c06195 -
Advanced Materials (Deerfield Beach,... Feb 2024The exponential growth of global data has outpaced the storage capacities of current technologies, necessitating innovative storage strategies. DNA, as a natural medium... (Review)
Review
The exponential growth of global data has outpaced the storage capacities of current technologies, necessitating innovative storage strategies. DNA, as a natural medium for preserving genetic information, has emerged as a highly promising candidate for next-generation storage medium. Storing data in DNA offers several advantages, including ultrahigh physical density and exceptional durability. Facilitated by significant advancements in various technologies, such as DNA synthesis, DNA sequencing, and DNA nanotechnology, remarkable progress has been made in the field of DNA data storage over the past decade. However, several challenges still need to be addressed to realize practical applications of DNA data storage. In this review, the processes and strategies of in vitro DNA data storage are first introduced, highlighting recent advancements. Next, a brief overview of in vivo DNA data storage is provided, with a focus on the various writing strategies developed to date. At last, the challenges encountered in each step of DNA data storage are summarized and promising techniques are discussed that hold great promise in overcoming these obstacles.
Topics: DNA; Nanotechnology; Information Storage and Retrieval; Sequence Analysis, DNA; Base Sequence
PubMed: 37800877
DOI: 10.1002/adma.202307499 -
Journal of Inherited Metabolic Disease Jan 2024Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and... (Review)
Review
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy for the GSDs. The abnormal accumulation of glycogen and deficiency of glucose production in GSDs lead to unique symptoms based upon the enzyme step and tissues involved, such as liver and kidney involvement associated with severe hypoglycemia during fasting and the risk of long-term complications including hepatic adenoma/carcinoma and end stage kidney disease in GSD Ia from glucose-6-phosphatase deficiency, and cardiac/skeletal/smooth muscle involvement associated with myopathy +/- cardiomyopathy and the risk for cardiorespiratory failure in Pompe disease. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno-associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.
Topics: Animals; Glycogen Storage Disease Type II; Glycogen Storage Disease; Glycogen Storage Disease Type I; Liver; Glycogen; Genetic Therapy; Carcinoma, Hepatocellular; Liver Neoplasms
PubMed: 37421310
DOI: 10.1002/jimd.12654 -
Chemistry (Weinheim An Der Bergstrasse,... Sep 2023Graphynes (GYs) are a novel type of carbon allotrope composed of sp and sp2 hybridized carbon atoms, boasting both a planar conjugated structure akin to graphene and a... (Review)
Review
Graphynes (GYs) are a novel type of carbon allotrope composed of sp and sp2 hybridized carbon atoms, boasting both a planar conjugated structure akin to graphene and a pore-like configuration in three-dimensional space. Graphdiyne (GDY), the first successfully synthesized member of GYs family, has gained much interest due to its fascinating electrochemical properties including a greater theoretical capacity, high charge mobility and advanced electronic transport properties, making it a promising material for energy storage applications for lithium-ion and hydrogen storage. Various methods, including heteroatom substitution, embedding, strain, and nanomorphology control, have been employed to further enhance the energy storage performance of GDY. Despite the potential of GDY in energy storage applications, there are still challenges to overcome in scaling up mass production. This review summarizes recent progress in the synthesis and application of GDY in lithium-ion and hydrogen storage, highlighting the obstacles faced in large-scale commercial application of GDY-based energy storage devices. Suggestions on possible solutions to overcome these hurdles have also been provided. Overall, the unique properties of GDY make it a promising material for energy storage applications in lithium-ion and hydrogen storage devices. The findings presented here will inspire further development of energy storage devices utilizing GDY.
PubMed: 37382478
DOI: 10.1002/chem.202301722 -
Advanced Materials (Deerfield Beach,... Feb 2024Storage systems are vital components of electronic devices, while significant challenges persist in achieving flexible memory due to the limitations of existing storage...
Storage systems are vital components of electronic devices, while significant challenges persist in achieving flexible memory due to the limitations of existing storage methodologies. Inspired by the polarization and depolarization mechanisms in the human brain, here a novel class of storage principles is proposed and achieve a fully flexible memory through introducing the oxidation and deoxidation behaviors of liquid metals. Specifically, reversible electrochemical oxidation is utilized to modulate the overall conductivity of the target liquid metals, creating a substantial 11-order resistance difference for binary data storage. To obtain the best storage performance, systematic optimizations of multiple parameters are conducted. Conceptual experiments demonstrate the memory's stability under extreme deformations (100% stretching, 180° bending, 360° twisting). Further tests reveal that the memory performs better when its unit size gets smaller, warranting superior integrability. Finally, a complete storage system achieves remarkable performance metrics, including rapid storage speed (>33 Hz), long data retention capacity (>43200 s), and stable repeatable operation (>3500 cycles). This groundbreaking method not only overcomes the inherent rigidity limitations of existing electronic storage units but also opens new possibilities for innovating neuromorphic devices, offering fundamental and practical avenues for future applications in soft robotics, wearable electronics, and bio-inspired artificial intelligence systems.
PubMed: 38037474
DOI: 10.1002/adma.202309182 -
Open Research Europe 2024The changes in the energy sector after the Paris agreement and the establishment of the Green Deal, pressed the governments to embrace new measures to reduce greenhouse... (Review)
Review
The changes in the energy sector after the Paris agreement and the establishment of the Green Deal, pressed the governments to embrace new measures to reduce greenhouse gas emissions. Among them, is the replacement of fossil fuels by renewable energy sources or carbon-neutral alternative means, such as green hydrogen. As the European Commission approved green hydrogen as a clean fuel, the interest in investments and dedicated action plans related to its production and storage has significantly increased. Hydrogen storage is feasible in aboveground infrastructures as well as in underground constructions. Proper geological environments for underground hydrogen storage are porous media and rock cavities. Porous media are classified into depleted hydrocarbon reservoirs and aquifers, while rock cavities are subdivided into hard rock caverns, salt caverns, and abandoned mines. Depending on the storage option, various technological requirements are mandatory, influencing the required capital cost. Although the selection of the optimum storage technology is site depending, the techno-economical appraisal of the available underground storage options featured the porous media as the most economically attractive option. Depleted hydrocarbon reservoirs were of high interest as site characterisation and cavern mining are omitted due to pre-existing infrastructure, followed by aquifers, where hydrogen storage requires a much simpler construction. Research on data analytics and machine learning tools will open avenues for consolidated knowledge of geological storage technologies.
PubMed: 38764756
DOI: 10.12688/openreseurope.16974.1 -
Nano Letters Jul 2023Airborne hydrocarbon contamination hinders nanomanufacturing, limits characterization techniques, and generates controversies regarding fundamental studies of advanced...
Airborne hydrocarbon contamination hinders nanomanufacturing, limits characterization techniques, and generates controversies regarding fundamental studies of advanced materials; consequently, we urgently need effective and scalable clean storage techniques. In this work, we propose an approach to clean storage using an ultraclean nanotextured storage medium as a getter. Experiments show that our proposed approach can maintain surface cleanliness for more than 1 week and can even passively clean initially contaminated samples during storage. We theoretically analyzed the contaminant adsorption-desorption process with different values of storage medium surface roughness, and our model predictions showed good agreement with experiments for smooth, nanotextured, and hierarchically textured surfaces, providing guidelines for the design of future clean storage systems. The proposed strategy offers a promising approach for portable and cost-effective storage systems that minimize hydrocarbon contamination in applications requiring clean surfaces, including nanofabrication, device storage and transportation, and advanced metrology.
PubMed: 37432931
DOI: 10.1021/acs.nanolett.3c00626