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Neuroacanthocytosis
Neuroacanthocytosis
Neuroacanthocytosis
is a label applied to several neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes
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EMedicine
eMedicine.com, Incorporated is an online clinical medical knowledge base founded in 1996 by two medical doctors, Scott Plantz and Jonathan Adler, and by Jeffrey Berezin, a computer engineer. The fundamental concept was to create a large repository of professional level medical content that could be both updated and accessed continuously to assist in clinical care and physician education. The eMedicine website consists of approximately 6,800 medical topic review articles, each of which is associated with one of 62 clinical subspecialty "textbooks". Pediatrics, for example, has 1,050 articles organized into 14 subspecialty "textbooks" (Pediatric endocrinology, genetics, cardiology, pulmonology, etc.); the emergency medicine volume has 630 articles and internal medicine is near 1,400. The knowledge base includes about 25,000 clinically relevant images
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Botulinum Toxin
Botulinum toxin
Botulinum toxin
(BTX) is a neurotoxic protein produced by the bacterium Clostridium botulinum
Clostridium botulinum
and related species.[1] It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction and thus causes flaccid paralysis. Infection with the bacterium causes the disease botulism. The toxin is also used commercially in medicine, cosmetics and research. Botulinum is the most acutely lethal toxin known, with an estimated human median lethal dose (LD50) of 1.3–2.1 ng/kg intravenously or intramuscularly and 10–13 ng/kg when inhaled.[2] There are eight types of botulinum toxin, named type A–H
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Dilated Cardiomyopathy
Dilated cardiomyopathy
Dilated cardiomyopathy
(DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively.[3] Symptoms vary from none to feeling tired, leg swelling, and shortness of breath.[2] It may also result in chest pain or fainting.[2] Complications can include heart failure, heart valve disease, or an irregular heartbeat.[3][4] Causes include genetics, alcohol, cocaine, certain toxins, complications of pregnancy, and certain infections.[6][7] Coronary artery disease and high blood pressure may play a role, but are not the prima
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PANK2
5E26IdentifiersAliases PANK2, C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2External IDs MGI: 1921700 HomoloGene: 65126 GeneCards: PANK2 Gene
Gene
location (Human)Chr. Chromosome
Chromosome
20 (human)[1]


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JPH3
NM_001271604 NM_001271605 NM_020655NM_020605RefSeq (protein)NP_001258533 NP_001258534 NP_065706NP_065630Location (UCSC) Chr 16: 87.6 – 87.7 Mb Chr 8: 121.73 – 121.79 Mb PubMed
PubMed
search [3] [4]WikidataView/Edit Human View/Edit MouseJunctophilin-3 is a protein that in humans is encoded by the JPH3 gene.[5][6][7] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane
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Huntington's Disease
Huntington's disease
Huntington's disease
(HD), also known as Huntington's chorea, is an inherited disorder that results in death of brain cells.[4] The earliest symptoms are often subtle problems with mood or mental abilities.[1] A general lack of coordination and an unsteady gait often follow.[2] As the disease advances, uncoordinated, jerky body movements become more apparent.[1] Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk.[1][2] Mental abilities generally decline into dementia.[3] The specific symptoms vary somewhat between people.
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GLUT1
4PYP, 5EQH, 5EQI, 5EQGIdentifiersAliases SLC2A1, CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN, solute carrier family 2 member 1External IDs OMIM: 138140 MGI: 95755 HomoloGene: 68520 GeneCards: SLC2A1 Gene
Gene
location (Human)Chr. Chromosome
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Mitochondrial Disease
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria
Mitochondria
are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases are sometimes (about 15% of the time)[1] caused by mutations in the mitochondrial DNA that affect mitochondrial function. Other mitochondrial diseases are caused by mutations in genes of the nuclear DNA, whose gene products are imported into the mitochondria (mitochondrial proteins) as well as acquired mitochondrial conditions
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Antipsychotics
Antipsychotics, also known as neuroleptics or major tranquilizers,[1] are a class of medication primarily used to manage psychosis (including delusions, hallucinations, paranoia or disordered thought), principally in schizophrenia and bipolar disorder. They are increasingly being used in the management of non-psychotic disorders. Antipsychotics are usually effective in relieving symptoms of psychosis in the short term. The long-term use of antipsychotics is associated with side effects such as involuntary movement disorders, gynecomastia, and metabolic syndrome. They are also associated with increased mortality in elderly people with dementia. First-generation antipsychotics, known as typical antipsychotics, were discovered in the 1950s
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Dopamine
Dopamine
Dopamine
(DA, a contraction of 3,4-dihydroxyphenethylamine) is an organic chemical of the catecholamine and phenethylamine families that plays several important roles in the brain and body. It is an amine synthesized by removing a carboxyl group from a molecule of its precursor chemical L-DOPA, which is synthesized in the brain and kidneys. Dopamine
Dopamine
is also synthesized in plants and most animals. In the brain, dopamine functions as a neurotransmitter—a chemical released by neurons (nerve cells) to send signals to other nerve cells. The brain includes several distinct dopamine pathways, one of which plays a major role in the motivational component of reward-motivated behavior. The anticipation of most types of rewards increase the level of dopamine in the brain,[2] and many addictive drugs increase dopamine neuronal activity
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Anticonvulsants
Anticonvulsants (also commonly known as antiepileptic drugs or as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder[1] and borderline personality disorder,[2] since many seem to act as mood stabilizers, and for the treatment of neuropathic pain.[3] Anticonvulsants suppress the excessive rapid firing of neurons during seizures.[4] Anticonvulsants also prevent the spread of the seizure within the brain.[5] Conventional antiepileptic drugs may block sodium channels or enhance γ-aminobutyric acid (GABA) function
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Speech Therapy
Speech-language pathology is a field of expertise practiced by a clinician known as a speech-language pathologist (SLP), also sometimes referred to as a speech and language therapist[1] or a speech therapist. SLP is considered a "related health profession" along with audiology, optometry, occupational therapy, clinical psychology, physical therapy, and others. The field of SLP is distinguished from other "related health professions" as SLPs are legally permitted to diagnose certain disorders which fall within their scope of practice. SLPs specialize in the evaluation, diagnosis, and treatment of communication disorders (speech disorders and language disorders), cognitive-communication disorders, voice disorders, and swallowing disorders
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Medical Subject Headings
Medical Subject Headings (MeSH) is a comprehensive controlled vocabulary for the purpose of indexing journal articles and books in the life sciences; it serves as a thesaurus that facilitates searching. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/ PubMed
PubMed
article database and by NLM's catalog of book holdings. MeSH is also used by ClinicalTrials.gov
ClinicalTrials.gov
registry to classify which diseases are studied by trials registered in ClinicalTrials.gov. MeSH was introduced in 1960, with the NLM's own index catalogue and the subject headings of the Quarterly Cumulative Index Medicus (1940 edition) as precursors. The yearly printed version of MeSH was discontinued in 2007 and MeSH is now available online only.[2] It can be browsed and downloaded free of charge through PubMed
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Occupational Therapy
Occupational therapy
Occupational therapy
(OT) is the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or occupations, of individuals, groups, or communities. It is an allied health profession performed by occupational therapists. OTs often work with people with mental health problems, disabilities, injuries, or impairments.[1] The American Occupational Therapy Association defines an occupational therapist as someone who "helps people across the lifespan participate in the things they want and need to do through the therapeutic use of everyday activities (occupations)
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Physical Therapy
Physical therapy
Physical therapy
(PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy and electrotherapy, remediates impairments and promotes mobility and function. Physical therapy
Physical therapy
is used to improve a patient's quality of life through examination, diagnosis, prognosis and physical intervention. It is performed by physical therapists (known as physiotherapists in many countries). In addition to clinical practice, other activities encompassed in the physical therapy profession include research, education, consultation and administration
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