FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4295135441> ?p ?o ?g. }

• W4295135441 endingPage "01" @default.
• W4295135441 startingPage "01" @default.
• W4295135441 abstract "Microcephaly is a result of abnormal in utero development resulting in an unusually small head size. The word comes from a New Latin word, termed as microcephalia, and from two Ancient Greek terminologies that translates into small and head. Back in Ancient Roman times, individuals that were known to carry small heads in comparison to a normal sized human head were all showcased as a public display, whereas people with microcephaly have been occasionally traded to multiple freak shows back in European and North American regions in the nineteenth and twentieth centuries, in which they were regarded as pinheads or freaks of the nature while a lot among them were showcased as a completely different species and were referred to as the lost connection in the evolution process. Growth limitation impacts the Central Nervous System (CNS) and brain in the more serious forms of cases, which might also result in significant perpetual cognitive deficits if the infant manages to survive. Microcephaly is caused by a number of variables, including chromosomal abnormalities as well as other genetic conditions, infections during pregnancy, for instance; rubella, toxoplasmosis, and prenatal exposure to dangerous toxicants.&#x0D; Although drastically deficient cognitive growth is prevalent, problems with motor control processes not showing up until much later in life. Most negatively impacted infants have severe neurological abnormalities and sometimes seizures, as well. Motor function and verbal advancement may also be deferred while hyperactivity and intellectual disability are both prevalent, however to varying degrees. Convulsions are also possible with variations in motor ability; from clumsiness to spastic quadriplegia in some people. The majority of cases of microcephaly are caused by genetic variations. On the one hand, linkage has been discovered between autism, gene duplications, and macrocephaly. On the contrary, a link has been discovered between schizophrenia, gene removals, and microcephaly. Several genotypes, termed as MCPH genes, after the gene microcephalin (MCPH1), because of their involvement in cranial capacity and primary microcephaly neuropathies when mutations occur. WDR62 (MCPH2), ASPM (MCPH5), CDK5RAP2 (MCPH3), CENPJ (MCPH6), KNL1 (MCPH4), STIL (MCPH7), CEP152 (MCPH9), ZNF335 (MCPH10), CEP135 (MCPH8), CDK6 (MCPH12), and PHC1 (MCPH11) are among the other genes related to microcephalin gene. Furthermore, a link has been found among repeated genetic variations in recognised genes, including MCPH1 and CDK5RAP2 with structural variations of the brain as examined by Magnetic Resonance Imaging (MRI). The Centres for Disease Control and Prevention and the International Society for Infectious Diseases have linked the expansion of vector-borne Zika virus to an increase in genetically inherited microcephaly. Zika can be transmitted from a pregnant woman to her foetus.&#x0D; Being caused by a reduction in cerebral cortex, and it can occur throughout embryonic and foetal growth phases because of inadequate neural stem cell advancement, impeded neurogenesis, or decrease of neural stem cells. Many genes needed for standard neural development have been discovered through studies in animal models such as rodents. The genes associated with the Notch pathway, for instance, govern stem cell advancement and neurogenesis. Genetic variations induced in mouse models in an experimental setting can induce microcephaly that in comparison is similar to that of the human beings. Abnormal Spindle-like Microcephaly-Associated (ASPM) gene abnormalities have been linked to human microcephaly, and a knockout-model of a ferret with extreme microcephaly has now been designed. Furthermore, viruses like Zika virus and Cytomegalovirus (CMV) have been found to afflict and destroy the brain's primary stem cells and radial glial cells, resulting in the destruction of daughter neurons.&#x0D; A comprehensive physical and history assessments are carried out on patients with microcephaly. Neuroimaging, metabolic evaluation, and genetic examination should be taken into consideration in cases of deteriorating microcephaly. Neuroimaging with Magnetic Resonance Imaging (MRI) is mostly utilized as the very first diagnostic analysis in children suffering from microcephaly. Genetic screening is frequently the very next process after imaging techniques. Microcephaly is a long-term condition with no specific treatment available." @default.
• W4295135441 created "2022-09-11" @default.
• W4295135441 creator A5002442112 @default.
• W4295135441 date "2022-08-31" @default.
• W4295135441 modified "2023-09-26" @default.
• W4295135441 title "MICROCEPHALY: A Developmental Disorder" @default.
• W4295135441 doi "https://doi.org/10.54393/pbmj.v5i8.791" @default.
• W4295135441 hasPublicationYear "2022" @default.
• W4295135441 type Work @default.
• W4295135441 citedByCount "0" @default.
• W4295135441 crossrefType "journal-article" @default.
• W4295135441 hasAuthorship W4295135441A5002442112 @default.
• W4295135441 hasBestOaLocation W42951354411 @default.
• W4295135441 hasConcept C138496976 @default.
• W4295135441 hasConcept C15744967 @default.
• W4295135441 hasConcept C169760540 @default.
• W4295135441 hasConcept C169900460 @default.
• W4295135441 hasConcept C187212893 @default.
• W4295135441 hasConcept C2776395126 @default.
• W4295135441 hasConcept C2779234561 @default.
• W4295135441 hasConcept C54355233 @default.
• W4295135441 hasConcept C71924100 @default.
• W4295135441 hasConcept C86803240 @default.
• W4295135441 hasConceptScore W4295135441C138496976 @default.
• W4295135441 hasConceptScore W4295135441C15744967 @default.
• W4295135441 hasConceptScore W4295135441C169760540 @default.
• W4295135441 hasConceptScore W4295135441C169900460 @default.
• W4295135441 hasConceptScore W4295135441C187212893 @default.
• W4295135441 hasConceptScore W4295135441C2776395126 @default.
• W4295135441 hasConceptScore W4295135441C2779234561 @default.
• W4295135441 hasConceptScore W4295135441C54355233 @default.
• W4295135441 hasConceptScore W4295135441C71924100 @default.
• W4295135441 hasConceptScore W4295135441C86803240 @default.
• W4295135441 hasLocation W42951354411 @default.
• W4295135441 hasOpenAccess W4295135441 @default.
• W4295135441 hasPrimaryLocation W42951354411 @default.
• W4295135441 hasRelatedWork W1538492408 @default.
• W4295135441 hasRelatedWork W1987703786 @default.
• W4295135441 hasRelatedWork W2020564195 @default.
• W4295135441 hasRelatedWork W2612344412 @default.
• W4295135441 hasRelatedWork W2748952813 @default.
• W4295135441 hasRelatedWork W2899084033 @default.
• W4295135441 hasRelatedWork W2910520828 @default.
• W4295135441 hasRelatedWork W3109073345 @default.
• W4295135441 hasRelatedWork W3194433524 @default.
• W4295135441 hasRelatedWork W3199447437 @default.
• W4295135441 isParatext "false" @default.
• W4295135441 isRetracted "false" @default.
• W4295135441 workType "article" @default.