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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
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
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
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
Antifungals and Drug Resistance
Antifungal drugs prevent topical or invasive fungal infections (mycoses) either by stopping growth of fungi (termed fungistatic) or by killing the fungal cells (termed fungicidal). Antibiotics also prevent bacterial infections through either bacteriostatic or bactericidal mechanisms. These microorganisms successfully develop resistance against conventional drugs that are designed to kill or stop them from multiplying. When a fungus no longer responds to antifungal drug treatments and continues to grow, this is known as antifungal drug resistance. Bacteria have an amazing capacity to become resistant to antibiotic action as well, and the effectiveness of the scarce antifungal arsenal is jeopardised by this antibiotic resistance, which poses a severe threat to public health.
21 Oct 2022
α- and β-Pinene
α- and β-pinene are well-known representatives of the monoterpenes group, and are found in many plants’ essential oils. A wide range of pharmacological activities have been reported, including antibiotic resistance modulation, anticoagulant, antitumor, antimicrobial, antimalarial, antioxidant, anti-inflammatory, anti-Leishmania, and analgesic effects.
23 Jul 2021
Phosphate in Primary Hyperparathyroidism
Serum phosphate is crucial in the management of kidney disease, playing a major role in vascular calcification in chronic kidney failure. In the past 20 years, the role of phosphate has been profoundly reconsidered since many other molecules have been found to play important roles in phosphate homeostasis, beyond the well-known effect of parathyroid hormone (PTH) or renal function. The advent of new insights into phosphate metabolism must urge the endocrinologist to rethink the pathophysiology of widespread disorders, such as primary hyperparathyroidism.
15 Dec 2021
The Relationship between COVID-19 and Hypothalamic–Pituitary–Adrenal Axis
Coronavirus disease 2019 (COVID-19) is a highly heterogeneous disease regarding severity, vulnerability to infection due to comorbidities, and treatment approaches. The hypothalamic–pituitary–adrenal (HPA) axis has been identified as one of the most critical endocrine targets of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that might significantly impact outcomes after infection.
18 Jul 2022
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
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Encyclopedia of Social Sciences
Encyclopedia of ZEMCH Research and Development
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