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Glycogen Storage Diseases
Glycogen storage diseases (GSDs) are metabolic disorders of glycogen metabolism. In aggregate, GSDs are not considered rare diseases, but every individual type are. The overall estimated GSD incidence is 1 case per 20,000-43,000 live births, and a prevalence of 1:100,000 is considered for main types (including I, II, II, V and IX). There are 19 types which are classified by enzyme deficiency and affected tissue. Most of them are inherited in an autosomal recessive manner, except for one X-linked GSDIX and Danon subtypes. Disorders related with creation, deposits and degradation of glycogen, may primarily affect the liver (hepatic GSDs), the muscles (muscle GSDs), or in a multiorganic manner (mainly Pompe). The common characteristic of all types of GSDs is the alteration of some step in glycogenolysis/glycolysis pathway, as can be seen in figures 1a and 1b.
13 May 2021
Assessment of Gastrointestinal Autonomic Dysfunction
The autonomic nervous system delicately regulates the function of several target organs, including the gastrointestinal tract. Thus, nerve lesions or other nerve pathologies may cause autonomic dysfunction (AD). Some of the most common causes of AD are diabetes mellitus and α-synucleinopathies such as Parkinson’s disease. Widespread dysmotility throughout the gastrointestinal tract is a common finding in AD, but no commercially available method exists for direct verification of enteric dysfunction. Thus, assessing segmental enteric physiological function is recommended to aid diagnostics and guide treatment.
24 Apr 2021
Oral Mucosal Pain
The oral cavity is a portal into the digestive system, which exhibits unique sensory properties. Like facial skin, the oral mucosa needs to be exquisitely sensitive and selective, in order to detect harmful toxins versus edible food. Chemosensation and somatosensation by multiple receptors, including transient receptor potential channels, are well-developed to meet these needs. In contrast to facial skin, however, the oral mucosa rarely exhibits itch responses. Like the gut, the oral cavity performs mechanical and chemical digestion. Therefore, the oral mucosa needs to be insensitive, to some degree, in order to endure noxious irritation. Persistent pain from the oral mucosa is often due to ulcers, involving both tissue injury and infection. Trigeminal nerve injury and trigeminal neuralgia produce intractable pain in the orofacial skin and the oral mucosa, through mechanisms distinct from those seen in the spinal area, which is particularly difficult to predict or treat. The diagnosis and treatment of idiopathic chronic pain, such as atypical odontalgia (idiopathic painful trigeminal neuropathy or post-traumatic trigeminal neuropathy) and burning mouth syndrome, remain especially challenging. The central integration of gustatory inputs might modulate chronic oral and facial pain. A lack of pain in chronic inflammation inside the oral cavity, such as chronic periodontitis, involves the specialized functioning of oral bacteria. A more detailed understanding of the unique neurobiology of pain from the orofacial skin and the oral mucosa should help us develop novel methods for better treating persistent orofacial pain.
08 Jun 2021
Biosurfactants (BSs) are emerging surface-active molecules with high potential for a wide range of applications in the biomedical and pharmaceutical fields. BSs are extremely attractive due to their significant antimicrobial (against bacteria, fungi and viruses), antiadhesive and biofilm disruptive properties. Their use, either on their own or in combination with other antimicrobial or chemotherapeutic drugs, might pave the way for a future strategy of prevention and counteraction of microbial infections, biofilm formation and proliferation. In addition, BSs have recently attracted the attention of the scientific community as a new potential generation of pharmaceutics to be included in anticancer, immunomodulatory, wound healing, cosmetic and drug delivery agents.
11 May 2021
Gene Therapy in PolyQ SCAs
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are characterized by progressive cerebellar degeneration, which translates into progressive ataxia, the main clinical feature, often accompanied by oculomotor deficits and dysarthria. Currently, PolyQ SCAs treatment is limited only to symptomatic mitigation, and no therapy is available to stop or delay the disease progression, which culminates with death.
27 Apr 2021
2LARTH® Micro-Immunotherapy Treatment
Tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) are two cytokines involved in the perpetuation of the chronic inflammation state characterizing rheumatoid arthritis (RA). Significant advances in the treatment of this pathology have been made over the past ten years, partially through the development of anti-TNF and anti-IL-1 therapies. However, major side effects still persist and new alternative therapies should be considered.
19 Nov 2021
Process Analytical Technology
Various frameworks and methods, such as quality by design (QbD), real time release test (RTRT), and continuous process verification (CPV), have been introduced to improve drug product quality in the pharmaceutical industry. The methods recognize that an appropriate combination of process controls and predefined material attributes and intermediate quality attributes (IQAs) during processing may provide greater assurance of product quality than end-product testing. The efficient analysis method to monitor the relationship between process and quality should be used. Process analytical technology (PAT) was introduced to analyze IQAs during the process of establishing regulatory specifications and facilitating continuous manufacturing improvement. Although PAT was introduced in the pharmaceutical industry in the early 21st century, new PAT tools have been introduced during the last 20 years.
22 Jul 2021
Ferritin is one of the most frequently requested laboratory tests in primary and secondary care, and levels often deviate from reference ranges. Serving as an indirect marker for total body iron stores, low ferritin is highly specific for iron deficiency. Hyperferritinemia is, however, a non-specific finding, which is frequently overlooked in general practice. In routine medical practice, only 10% of cases are related to an iron overload, whilst the rest is seen as a result of acute phase reactions and reactive increases in ferritin due to underlying conditions. Differentiation of the presence or absence of an associated iron overload upon hyperferritinemia is essential, although often proves to be complex.
27 May 2021
Gut–Lung Axis Communication in COVID-19
The ecosystem of the human gastrointestinal tract, named gut microbiota, represents the most thoroughly mapped ecosystem. Perturbations on bacterial populations cause dysbiosis, a condition correlated to a wide range of autoimmune, neurological, metabolic, cardiovascular, and respiratory diseases. The lungs have their flora, which are directly related to the gut flora via bidirectional communication allowing the transport of microbial metabolites and toxins produced by intestinal bacteria through the circulation and lymphatic system. This mutual microbial cross-talk communication called the gut–lung axis modulates the immune and inflammatory response to infections. COVID-19 causes dysbiosis, altered intestinal permeability, and bacterial translocation. Dysbiosis, through the gut–lung axis, promotes hyper-inflammation, exacerbates lung damage, and worsens clinical outcomes.
08 Sep 2022
LEAP Motion Technology and Psychology
Technological advancement is constantly evolving, and it is also developing in the mental health field. Various applications, often based on virtual reality, have been implemented to carry out psychological assessments and interventions, using innovative human–machine interaction systems. In this context, the LEAP Motion sensing technology has raised interest, since it allows for more natural interactions with digital contents, via an optical tracking of hand and finger movements.
14 Sep 2021
Featured Entry Collections
Encyclopedia of Social Sciences
Expected Online Date: Dec 2022
Encyclopedia of ZEMCH Research and Development
Expected Online Date: Dec 2022
Encyclopedia of Engineering
Expected Online Date: Dec 2022
Encyclopedia of Piezoelectrics
Expected Online Date: Dec 2022
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