Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort:
Hottest Latest Alphabetical (A-Z) Alphabetical (Z-A)
Type:
All Topic Review Biography
Topic Review
Spongy Degeneration of the Central Nervous System
Spongy degeneration of the central nervous system, also known as Canavan's disease, Van Bogaert-Bertrand type or Aspartoacylase (AspA) deficiency, is a rare autosomal recessive neurodegenerative disorder. It belongs to a group of genetic disorders known as leukodystrophies, where the growth and maintenance of myelin sheath in the central nervous system (CNS) are impaired. There are three types of spongy degeneration: infantile, congenital and juvenile, with juvenile being the most severe type. Common symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly. It may also be accompanied by difficulties in feeding and swallowing, seizures and sleep disturbances. Affected children typically die before the age of 10, but life expectancy can vary. The cause of spongy degeneration of the CNS is the mutation in a gene coding for aspartoacylase (AspA), an enzyme that hydrolyzes N-acetyl aspartic acid (NAA). In the absence of AspA, NAA accumulates and results in spongy degeneration. The exact pathophysiological causes of the disease are currently unclear, but there are developing theories. Spongy degeneration can be diagnosed with neuroimaging techniques and urine examination. There is no current treatment for spongy degeneration, but research utilising gene therapy to treat the disease is underway. Spongy degeneration is found to be more prevalent among Ashkenazi Jews, with an incidence of 1/6000 amongst this ethnic group.
  • 604
  • 20 Oct 2022
Topic Review
Sponges and Their Symbionts
Marine sponges represent a fascinating phylum of marine invertebrates, hosting a wide symbiotic community together with a huge production of secondary metabolites. The sponge-associated biota may bring together a broad group of phylogenetic lineages, including archaea, bacteria, and fungi.
  • 610
  • 24 Sep 2021
Topic Review
Sponge
Sponges, the members of the phylum Porifera (/pəˈrɪfərə/; meaning 'pore bearer'), are a basal animal clade as a sister of the diploblasts. They are multicellular organisms that have bodies full of pores and channels allowing water to circulate through them, consisting of jelly-like mesohyl sandwiched between two thin layers of cells. Sponges have unspecialized cells that can transform into other types and that often migrate between the main cell layers and the mesohyl in the process. Sponges do not have nervous, digestive or circulatory systems. Instead, most rely on maintaining a constant water flow through their bodies to obtain food and oxygen and to remove wastes. Sponges were first to branch off the evolutionary tree from the last common ancestor of all animals, making them the sister group of all other animals.
  • 1.2K
  • 22 Nov 2022
Topic Review
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 692
  • 23 Dec 2020
Topic Review
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.  
  • 722
  • 23 Dec 2020
Topic Review
Spondyloenchondrodysplasia with Immune Dysregulation
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.  
  • 569
  • 23 Dec 2020
Topic Review
Spondylocostal Dysostosis (SCDO)
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs.
  • 1.4K
  • 18 Mar 2021
Topic Review
Spondylocostal Dysostosis
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.  
  • 567
  • 23 Dec 2020
Topic Review
Spondylocarpotarsal Synostosis Syndrome
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).  
  • 473
  • 23 Dec 2020
Topic Review
Spondyloarthritis
Spondyloarthritis (SpA) is a group of autoimmune inflammatory diseases that leads to inflammation of the spine or peripheral joints, namely axial SpA and peripheral SpA respectively. SpA is a painful and debilitating disease that affects mostly individuals aged 45 years old or younger. Trillions of microorganism reside in the human gut and interact with the immune system, and these reactions may trigger different autoimmune diseases including SpA. Dysbiosis, an imbalance of gut microbiota, may affect the mucosal barrier integrity, resulting in gut inflammation. In animal study, none of the germfree mice developed features of SpA. However, after introduction of gut commensal, over 80% of them developed features of SpA. Different gut microbiome compositions also affect the degree of gut inflammation in HLA-B27 transgenic rats. Moreover, nearly 50% of the SpA patients had subclinical gut inflammation. Chronic gut inflammation also correlated with increased bone marrow edema on MRI in SpA patients. These findings suggest there is a link between gut microorganisms and the occurrence of SpA.
  • 1.1K
  • 18 Nov 2020
  • Page
  • of
  • 1815
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of Social Sciences
Encyclopedia of COVID-19
Encyclopedia of Fungi
Encyclopedia of Digital Society, Industry 5.0 and Smart City
ScholarVision Creations
Feedback