|
Cerebroretinal Microangiopathy With Calcifications And Cysts
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple Organ (anatomy), organs. Its hallmarks are widespread progressive calcifications, cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina. Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures, and gastrointestinal bleeding. It is caused by Compound heterozygosity, compound heterozygous mutations in the conserved telomere maintenance component 1 (''CTC1'') gene, but its exact pathophysiology is still not well understood. Cerebroretinal microangiopathy with calcifications and cysts is alternatively known as the Coats plus syndrome, a reference to its most typical ocular phenotype. Signs and Symptoms Presentation Before birth A child who has inherited this disorder will grow slower than normal in the uterus before birth and typically ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microangiopathy
Microangiopathy (also known as microvascular disease, small vessel disease (SVD) or microvascular dysfunction) is a disease of the microvessels, small blood vessels in the microcirculation. It can be contrasted to coronary heart disease, an angiopathy that affects the larger vessels. Type Cerebral small vessel disease refers to a group of diseases that affect the small arteries, arterioles, venules, and capillaries of the brain. Age-related and hypertension-related small vessel diseases and cerebral amyloid angiopathy are the most common forms. Coronary small vessel disease is a type of coronary heart disease that affects the arterioles and capillaries of the heart. Coronary small vessel disease is also known as microvascular angina, microvascular dysfunction, non-obstructive coronary disease, or previously ''cardiac syndrome X''. Pathophysiology One cause of microangiopathy is long-term diabetes mellitus. In this case, high blood glucose levels cause the endothelial cells linin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinopathy Of Prematurity
Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used due to the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birth-weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP. Causes By the fourth month of pregnancy, the fetal retina has begun to develop vascularization. Such formation of blood vessels appears to be very sensitive to the amount of oxygen supplied, either naturally or artificially. In rare cases ROP has been found in some patients with a mutation in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adolescence
Adolescence () is a transitional stage of physical and psychological development that generally occurs during the period from puberty to adulthood (typically corresponding to the age of majority). Adolescence is usually associated with the teenage years, but its physical, psychological or cultural expressions may begin earlier and end later. Puberty now typically begins during preadolescence, particularly in females. Physical growth (particularly in males) and cognitive development can extend past the teens. Age provides only a rough marker of adolescence, and scholars have not agreed upon a precise definition. Some definitions start as early as 10 and end as late as 25 or 26. The World Health Organization definition officially designates an adolescent as someone between the ages of 10 and 19. Biological development Puberty in general Puberty is a period of several years in which rapid physical growth and psychological changes occur, culminating in sexual maturity. The aver ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infant
An infant or baby is the very young offspring of human beings. ''Infant'' (from the Latin word ''infans'', meaning 'unable to speak' or 'speechless') is a formal or specialised synonym for the common term ''baby''. The terms may also be used to refer to juveniles of other organisms. A newborn is, in colloquial use, an infant who is only hours, days, or up to one month old. In medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after birth; the term applies to premature, full term, and postmature infants. Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, definitions may vary and may include children up to two years of age. When a human child learns to walk, they are called a toddler instead. Other uses In British English, an ''infant school'' is for children aged between four and seven. As a legal term, ''infancy'' is more lik ... [...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] |
Epileptic Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness ( focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stress or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye remains open, with less common types including closed-angle (narrow angle, acute congestive) glaucoma and normal-tension glaucoma. Open-angle glaucoma develops slowly over time and there is no pain. Peripheral vision may begin to decrease, followed by central vision, resulting in blindness if not treated. Closed-angle glaucoma can present gradually or suddenly. The sudden presentation may involve severe eye pain, blurred vision, mid-dilated pupil, redness of the eye, and nausea. Vision loss from glaucoma, once it has occurred, is permanent. Eyes affected by glaucoma are referred to as being glaucomatous. Risk factors for glaucoma include increasing age, high pressure in the eye, a family history of glaucoma, and use of steroid medication. F ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinal Detachment
Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blindness. It is a surgical emergency. The retina is a thin layer of light-sensitive tissue on the back wall of the eye. The optical system of the eye focuses light on the retina much like light is focused on the film in a camera. The retina translates that focused image into neural impulses and sends them to the brain via the optic nerve. Occasionally, posterior vitreous detachment, injury or trauma to the eye or head may cause a small tear in the retina. The tear allows vitreous fluid to seep through it under the retina, and peel it away like a bubble in wallpaper. Diagnosis Symptoms As the retina is responsible for vision, persons experiencing a retinal detachment have vision loss. This can be painful or painless. Imaging Ultraso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukokoria
Leukocoria (also white pupillary reflex) is an abnormal white reflection from the retina of the eye. Leukocoria resembles eyeshine, but leukocoria can also occur in animals that lack eyeshine because their retina lacks a '' tapetum lucidum''. Leukocoria is a medical sign for a number of conditions, including Coats disease, congenital cataract, corneal scarring, melanoma of the ciliary body, Norrie disease, ocular toxocariasis, persistence of the tunica vasculosa lentis (PFV/PHPV), retinoblastoma, and retrolental fibroplasia Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process vi .... Because of the potentially life-threatening nature of retinoblastoma, a cancer, that condition is usually considered in the evaluation of leukocoria. In some rare cases (1%) the leukocoria is caused by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pre-eclampsia
Pre-eclampsia is a disorder of pregnancy characterized by the onset of high blood pressure and often a significant amount of protein in the urine. When it arises, the condition begins after 20 weeks of pregnancy. In severe cases of the disease there may be red blood cell breakdown, a low blood platelet count, impaired liver function, kidney dysfunction, swelling, shortness of breath due to fluid in the lungs, or visual disturbances. Pre-eclampsia increases the risk of undesirable outcomes for both the mother and the fetus. If left untreated, it may result in seizures at which point it is known as eclampsia. Risk factors for pre-eclampsia include obesity, prior hypertension, older age, and diabetes mellitus. It is also more frequent in a woman's first pregnancy and if she is carrying twins. The underlying mechanism involves abnormal formation of blood vessels in the placenta amongst other factors. Most cases are diagnosed before delivery. Commonly, pre-eclampsia continues i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
