Germline mutationA germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation.
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).
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.
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.
Noonan syndromeNoonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia.
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.
Mother] A mother is the female parent of a child. A woman may be considered a mother by virtue of having given birth, by raising a child who may or may not be her biological offspring, or by supplying her ovum for fertilisation in the case of gestational surrogacy. A biological mother is the female genetic contributor to the creation of the infant, through sexual intercourse or egg donation. A biological mother may have legal obligations to a child not raised by her, such as an obligation of monetary support.
Child labourChild labour refers to the exploitation of children through any form of work that deprives them of their childhood, interferes with their ability to attend regular school, or is mentally, physically, socially and morally harmful. Such exploitation is prohibited by legislation worldwide, although these laws do not consider all work by children as child labour; exceptions include work by child artists, family duties, supervised training, and some forms of work undertaken by Amish children, as well as by indigenous children in the Americas.
Juvenile idiopathic arthritisJuvenile idiopathic arthritis (JIA) is the most common, chronic rheumatic disease of childhood, affecting approximately 16 to 150 out of 100,000 children. Juvenile, in this context, refers to disease onset before 16 years of age, while idiopathic refers to a condition with no defined cause, and arthritis is inflammation within the joint. JIA is an autoimmune, noninfective, inflammatory joint disease, the cause of which remains poorly understood. It is characterised by chronic joint inflammation.
OphthalmoscopyOphthalmoscopy, also called funduscopy, is a test that allows a health professional to see inside the fundus of the eye and other structures using an ophthalmoscope (or funduscope). It is done as part of an eye examination and may be done as part of a routine physical examination. It is crucial in determining the health of the retina, optic disc, and vitreous humor. The pupil is a hole through which the eye's interior will be viewed. Opening the pupil wider (dilating it) is a simple and effective way to better see the structures behind it.
