ChildA child (: children) is a human being between the stages of birth and puberty, or between the developmental period of infancy and puberty. It may also refer to an unborn human being. The legal definition of child generally refers to a minor, otherwise known as a person younger than the age of majority. Children generally have fewer rights and responsibilities than adults. They are classed as unable to make serious decisions.
Compound heterozygosityIn medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations).
RNA splicingRNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcript is transformed into a mature messenger RNA (mRNA). It works by removing all the introns (non-coding regions of RNA) and splicing back together exons (coding regions). For nuclear-encoded genes, splicing occurs in the nucleus either during or immediately after transcription. For those eukaryotic genes that contain introns, splicing is usually needed to create an mRNA molecule that can be translated into protein.
Metabolic bone diseaseMetabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated. These disorders are to be differentiated from a larger group of genetic bone disorders where there is a defect in a specific signaling system or cell type that causes the bone disorder.
MutationismMutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's 1859 book On the Origin of Species. In the theory, mutation was the source of novelty, creating new forms and new species, potentially instantaneously, in sudden jumps. This was envisaged as driving evolution, which was thought to be limited by the supply of mutations. Before Darwin, biologists commonly believed in saltationism, the possibility of large evolutionary jumps, including immediate speciation.
BRCA mutationA BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact. Harmful mutations in these genes may produce a hereditary breast–ovarian cancer syndrome in affected persons. Only 5–10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations (with BRCA1 mutations being slightly more common than BRCA2 mutations), but the impact on women with the gene mutation is more profound.
Child careChild care, otherwise known as day care, is the care and supervision of a child or multiple children at a time, whose ages range from two weeks of age to 18 years. Although most parents spend a significant amount of time caring for their child(ren), child care typically refers to the care provided by caregivers that are not the child's parents. Child care is a broad topic that covers a wide spectrum of professionals, institutions, contexts, activities, and social and cultural conventions.
Somatic mutationA somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted to descendants. This distinction is blurred in plants, which lack a dedicated germline, and in those animals that can reproduce asexually through mechanisms such as budding, as in members of the cnidarian genus Hydra.
FatherA father is the male parent of a child. Besides the paternal bonds of a father to his children, the father may have a parental, legal, and social relationship with the child that carries with it certain rights and obligations. A biological father is the male genetic contributor to the creation of the infant, through sexual intercourse or sperm donation. A biological father may have legal obligations to a child not raised by him, such as an obligation of monetary support.
Eye examinationAn eye examination is a series of tests performed to assess vision and ability to focus on and discern objects. It also includes other tests and examinations pertaining to the eyes. Eye examinations are primarily performed by an optometrist, ophthalmologist, or an orthoptist. Health care professionals often recommend that all people should have periodic and thorough eye examinations as part of routine primary care, especially since many eye diseases are asymptomatic.
Dilated fundus examinationDilated fundus examination or dilated-pupil fundus examination (DFE) is a diagnostic procedure that employs the use of mydriatic eye drops (such as tropicamide) to dilate or enlarge the pupil in order to obtain a better view of the fundus of the eye. Once the pupil is dilated, examiners use ophthalmoscopy (funduscopy) to view the eye's interior, allowing assessment of the retina, optic nerve head, blood vessels, and other features. They also often use specialized equipment such as a fundus camera.
Child protectionChild protection is the safeguarding of children from violence, exploitation, abuse, and neglect. It involves identifying signs of potential harm, responding to allegations or suspicions of abuse, providing support and services to protect children, and holding those who have harmed them accountable. The primary goal of child protection is to ensure that all children are safe and free from harm. This includes physical, emotional, psychological, and sexual abuse; neglect; exploitation; and violence.
