|
Andermann Syndrome
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN) and Charlevoix disease, among other names, is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus collosum. It was first described by Eva Andermann et al. in 1972. Symptoms and signs Symptoms begin in infancy and include: * hypotonia * areflexia * amyotrophy * variable degrees of dysgenesis of the corpus callosum * mild to severe intellectual and developmental delay * psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior Genetics The inheritance pattern is autosomal recessive. Several genes have been associated with the disorder, including '' SLC12A6''. Neuropathology Autopsy examination of eight cases has shown both developmental and degenerative neuropathologic features in this disease, consistent with clinical dua ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegeneration
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Commissure
The anterior commissure (also known as the precommissure) is a white matter tract (a bundle of axons) connecting the two temporal lobes of the cerebral hemispheres across the midline, and placed in front of the columns of the fornix. In most existing mammals, the great majority of fibers connecting the two hemispheres travel through the corpus callosum, which is over 10 times larger than the anterior commissure, and other routes of communication pass through the hippocampal commissure or, indirectly, via subcortical connections. Nevertheless, the anterior commissure is a significant pathway that can be clearly distinguished in the brains of all mammals. The anterior commissure plays a key role in pain sensation, more specifically sharp, acute pain. It also contains decussating fibers from the olfactory tracts, vital for the sense of smell and chemoreception. The anterior commissure works with the posterior commissure to link the two cerebral hemispheres of the brain and also int ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic And Rare Diseases Information Center
The National Center for Advancing Translational Sciences (NCATS) was established in 2012 and is located in Bethesda, Maryland. NCATS is one of 27 institutes and centers of the US National Institutes of Health (NIH), an agency of the US Department of Health and Human Services. The mission of NCATS is to transform scientific discoveries into new treatments and cures for disease that can be delivered faster to patients. The budget provided to NCATS for fiscal year 2018 is $557,373,000. History NCATS was created in December 2011 by the Consolidated Appropriations Act, 2012. The center was created from a number of existing NIH programs: * Clinical and Translational Science Award program * Components of the Molecular Libraries Program * Therapeutics for Rare and Neglected Diseases * RAID renamed Bridging Interventional Development Gaps * Office of Rare Diseases Research * NIH–FDA Regulatory Science Initiative * Cures Acceleration Network (CAN) Divisions NCATS is organized into ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Online Mendelian Inheritance In Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lac-Saint-Jean
Lac-Saint-Jean () is a federal electoral district in the Saguenay–Lac-Saint-Jean region, northeast Quebec, Canada, that was represented in the House of Commons of Canada from 1925 to 2004, and has been represented since 2015. Demographics :''According to the Canada 2021 Census'' Ethnocultural groups: 92.0% European, 6.9% Indigenous, 1.1% Other Languages: 98.5% French Religions: 83.3% Christian (76.3% Catholic, 0.6% Jehovah's Witness), 0.5% Other, 16.2% None Median income: $30,947 (2015) History This riding was created in 1924 form parts of Chicoutimi—Saguenay riding and was originally named in English Lake St. John. It originally consisted of the counties of Lake St. John East and Lake St. John West. It was renamed Lake St-John—Roberval in 1935. The 1947 redistribution created a new riding with the name Lac-Saint-Jean (in English and French), created from parts of the Lake St-John—Roberval riding. It was initially defined to consist of the county of Lake St. John East ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Saguenay, Quebec
Saguenay ( , , ) is a city in the Saguenay–Lac-Saint-Jean region of Quebec, Canada, on the Saguenay River, about north of Quebec City by overland route. It is about upriver and northwest of Tadoussac, located at the confluence with the St. Lawrence River. It was formed in 2002 by merging the cities of Chicoutimi and Jonquière and the town of La Baie, Quebec, La Baie. Chicoutimi was founded by French colonists in 1676. The city of Saguenay constitutes a territory equivalent to a regional county municipality (TE); its geographical code is 941. Together with the regional county municipality of Le Fjord-du-Saguenay Regional County Municipality, Le Fjord-du-Saguenay, it forms the Census geographic units of Canada, census division (CD) of Le Saguenay-et-son-Fjord (94). The mayor of Saguenay since 2021 is Julie Dufour. Prior to its use as the name of the city, the term "the Saguenay" or (less commonly) "Saguenay Valley" had already been used for the whole Saguenay River region (se ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
French Canadians
French Canadians (referred to as Canadiens mainly before the twentieth century; french: Canadiens français, ; feminine form: , ), or Franco-Canadians (french: Franco-Canadiens), refers to either an ethnic group who trace their ancestry to French people, French colonists who settled in Canada (New France), Canada beginning in the 17th century or to French-speaking or Francophone Canadians of any ethnic origin. During the 17th century, French settlers originating mainly from the west and north of France settled Canada (New France), Canada. It is from them that the French Canadian ethnicity was born. During the 17th to 18th centuries, French Canadians expanded across North America and colonized various regions, cities, and towns. As a result people of French Canadian descent can be found across North America. Between 1840 and 1930, many French Canadians immigrated to New England, an event known as the Grande Hémorragie. Etymology French Canadians get their name from ''Canada, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroleptics
Antipsychotics, also known as neuroleptics, are a class of psychotropic medication primarily used to manage psychosis (including delusions, hallucinations, paranoia or disordered thought), principally in schizophrenia but also in a range of other psychotic disorders. They are also the mainstay together with mood stabilizers in the treatment of bipolar disorder. Prior research has shown that use of any antipsychotic is associated with smaller brain tissue volumes, including white matter reduction and that this brain shrinkage is dose dependent and time dependent. A more recent controlled trial suggests that second generation antipsychotics combined with intensive psychosocial therapy may potentially prevent pallidal brain volume loss in first episode psychosis. The use of antipsychotics may result in many unwanted side effects such as involuntary movement disorders, gynecomastia, impotence, weight gain and metabolic syndrome. Long-term use can produce adverse effects such ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscles Of Respiration
The muscles of respiration are the muscles that contribute to inhalation and exhalation, by aiding in the expansion and contraction of the thoracic cavity. The diaphragm and, to a lesser extent, the intercostal muscles drive respiration during quiet breathing. The elasticity of these muscles is crucial to the health of the respiratory system and to maximize its functional capabilities. Diaphragm The diaphragm is the major muscle responsible for breathing. It is a thin, dome-shaped muscle that separates the abdominal cavity from the thoracic cavity. During inhalation, the diaphragm contracts, so that its center moves caudally (downward) and its edges move cranially (upward). This compresses the abdominal cavity, raises the ribs upward and outward and thus expands the thoracic cavity. This expansion draws air into the lungs. When the diaphragm relaxes, elastic recoil of the lungs causes the thoracic cavity to contract, forcing air out of the lungs, and returning to its dome-shap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal Muscle
Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system and typically are attached by tendons to bones of a skeleton. The muscle cells of skeletal muscles are much longer than in the other types of muscle tissue, and are often known as muscle fibers. The muscle tissue of a skeletal muscle is striated – having a striped appearance due to the arrangement of the sarcomeres. Skeletal muscles are voluntary muscles under the control of the somatic nervous system. The other types of muscle are cardiac muscle which is also striated and smooth muscle which is non-striated; both of these types of muscle tissue are classified as involuntary, or, under the control of the autonomic nervous system. A skeletal muscle contains multiple muscle fascicle, fascicles – bundles of muscle fibers. Each individual fiber, and each muscle is surrounded by a type of connective tissue layer of fascia. Muscle fibers are formed from the cell fusion, fusion of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Nervous System
The peripheral nervous system (PNS) is one of two components that make up the nervous system of bilateral animals, with the other part being the central nervous system (CNS). The PNS consists of nerves and ganglia, which lie outside the brain and the spinal cord. The main function of the PNS is to connect the CNS to the limbs and organs, essentially serving as a relay between the brain and spinal cord and the rest of the body. Unlike the CNS, the PNS is not protected by the vertebral column and skull, or by the blood–brain barrier, which leaves it exposed to toxins. The peripheral nervous system can be divided into the somatic nervous system and the autonomic nervous system. In the somatic nervous system, the cranial nerves are part of the PNS with the exception of the optic nerve (cranial nerve II), along with the retina. The second cranial nerve is not a true peripheral nerve but a tract of the diencephalon. Cranial nerve ganglia, as with all ganglia, are part of the P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
.jpg "Click for more on -> Genetic And Rare Diseases Information Center")
