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L1CAM Syndrome
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). It is also called L1CAM syndrome (for the disorder's causative gene) and CRASH syndrome, an acronym for its primary clinical features: corpus callosum hypoplasia, retardation (intellectual disability), adducted thumbs, spasticity, and hydrocephalus. L1 syndrome can be caused by different variants in ''L1CAM'', the gene that provides the information that allows the body to produce L1 cell adhesion molecule (sometimes called the L1 protein). The L1 cell adhesion molecule is a surface protein found on the surface of all neurons. It allows neurons to bind to one another and create synapses (connections where information is passed on from the axons of one neuron to the dendr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pediatrics
Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children," derived from the two Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires resources available in a NICU). History The ear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain Development
The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The field of neural development draws on both neuroscience and developmental biology to describe and provide insight into the cellular and molecular mechanisms by which complex nervous systems develop, from nematodes and Drosophila melanogaster, fruit flies to mammals. Defects in neural development can lead to malformations such as holoprosencephaly, and a wide variety of neurological disorders including paresis, limb paresis and paralysis, balance and vision disorders, and seizures, and in humans other disorders such as Rett syndrome, Down syndrome and intellectual disability. Overview of vertebrate brain development The vertebrate central nervous system (CNS) is derived from the ectoderm—the outermost germ layer of the embryo. A part of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pragmatics
In linguistics and related fields, pragmatics is the study of how context contributes to meaning. The field of study evaluates how human language is utilized in social interactions, as well as the relationship between the interpreter and the interpreted. Linguists who specialize in pragmatics are called pragmaticians. Pragmatics encompasses phenomena including implicature, speech acts, relevance and conversation,Mey, Jacob L. (1993) ''Pragmatics: An Introduction''. Oxford: Blackwell (2nd ed. 2001). as well as nonverbal communication. Theories of pragmatics go hand-in-hand with theories of semantics, which studies aspects of meaning, and syntax which examines sentence structures, principles, and relationships. The ability to understand another speaker's intended meaning is called ''pragmatic competence''. Pragmatics emerged as its own subfield in the 1950s after the pioneering work of J.L. Austin and Paul Grice. Origin of the field Pragmatics was a reaction to structuralist l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morphology (linguistics)
In linguistics, morphology () is the study of words, how they are formed, and their relationship to other words in the same language. It analyzes the structure of words and parts of words such as stems, root words, prefixes, and suffixes. Morphology also looks at parts of speech, intonation and stress, and the ways context can change a word's pronunciation and meaning. Morphology differs from morphological typology, which is the classification of languages based on their use of words, and lexicology, which is the study of words and how they make up a language's vocabulary. While words, along with clitics, are generally accepted as being the smallest units of syntax, in most languages, if not all, many words can be related to other words by rules that collectively describe the grammar for that language. For example, English speakers recognize that the words ''dog'' and ''dogs'' are closely related, differentiated only by the plurality morpheme "-s", only found bound to noun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phonology
Phonology is the branch of linguistics that studies how languages or dialects systematically organize their sounds or, for sign languages, their constituent parts of signs. The term can also refer specifically to the sound or sign system of a particular language variety. At one time, the study of phonology related only to the study of the systems of phonemes in spoken languages, but may now relate to any linguistic analysis either: Sign languages have a phonological system equivalent to the system of sounds in spoken languages. The building blocks of signs are specifications for movement, location, and handshape. At first, a separate terminology was used for the study of sign phonology ('chereme' instead of 'phoneme', etc.), but the concepts are now considered to apply universally to all human languages. Terminology The word 'phonology' (as in 'phonology of English') can refer either to the field of study or to the phonological system of a given language. This is one of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Semantics
Semantics (from grc, σημαντικός ''sēmantikós'', "significant") is the study of reference, meaning, or truth. The term can be used to refer to subfields of several distinct disciplines, including philosophy Philosophy (from , ) is the systematized study of general and fundamental questions, such as those about existence, reason, knowledge, values, mind, and language. Such questions are often posed as problems to be studied or resolved. Some ..., linguistics and computer science. History In English, the study of meaning in language has been known by many names that involve the Ancient Greek word (''sema'', "sign, mark, token"). In 1690, a Greek rendering of the term ''semiotics'', the interpretation of signs and symbols, finds an early allusion in John Locke's ''An Essay Concerning Human Understanding'': The third Branch may be called [''simeiotikí'', "semiotics"], or the Doctrine of Signs, the most usual whereof being words, it is aptly enough ter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syntax
In linguistics, syntax () is the study of how words and morphemes combine to form larger units such as phrases and sentences. Central concerns of syntax include word order, grammatical relations, hierarchical sentence structure ( constituency), agreement, the nature of crosslinguistic variation, and the relationship between form and meaning (semantics). There are numerous approaches to syntax that differ in their central assumptions and goals. Etymology The word ''syntax'' comes from Ancient Greek roots: "coordination", which consists of ''syn'', "together", and ''táxis'', "ordering". Topics The field of syntax contains a number of various topics that a syntactic theory is often designed to handle. The relation between the topics is treated differently in different theories, and some of them may not be considered to be distinct but instead to be derived from one another (i.e. word order can be seen as the result of movement rules derived from grammatical relations). Se ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aphasia
Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions. The major causes are stroke and head trauma; prevalence is hard to determine but aphasia due to stroke is estimated to be 0.1–0.4% in the Global North. Aphasia can also be the result of brain tumors, brain infections, or neurodegenerative diseases (such as dementias). To be diagnosed with aphasia, a person's speech or language must be significantly impaired in one (or more) of the four aspects of communication following acquired brain injury. Alternatively, in the case of progressive aphasia, it must have significantly declined over a short period of time. The four aspects of communication are auditory comprehension, verbal expression, reading and writing, and functional communication. The difficulties of people with aphasia can range from occasional trouble finding words, to losing the ability to speak, read, or write; intelligence, however, is unaffected. Expressive lan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper motor neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer, nonfunctional protein. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. In the most common variant of sickle-cell d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
L1 (protein)
L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation. It also plays a key role in treatment-resistant cancers due to its function. It was first identified in 1984 by M. Schachner who found the protein in post-mitotic mice neurons. Mutations in the L1 protein are the cause of L1 syndrome, sometimes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Tissue and cellular distribution L1 protein is located all over the nervous system on the surface of neurons. It is placed along the cellular membrane so that one end of the protein remains inside the nerve cell while the other end stays on the outer surface of the neurone. This position allows the protein to activate chemical sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
