Cystinosis is the name given to a hereditary metabolic disease. It involves excessive accumulation of cystine in numerous organs. What is cystinosis? Cystinosis is a congenital metabolic disorder that is inherited. It is also known as cystinosis, cystine storage disease, amine diabetes, Abderhalden-Fanconi syndrome, or Lignac syndrome. In most cases, the disease manifests in childhood. … Cystinosis: Causes, Symptoms & Treatment
When they hear the word mutation, many people probably think first of hideously deformed creatures from horror movies and less of biology. Yet mutations play an important role everywhere in biology: for evolution, the emergence of new species, the emergence of new creatures, and ultimately in the emergence of many diseases. However, mutation takes place … Mutation: Function, Tasks, Role & Diseases
Gendrift is a change in allele frequency within a gene pool of a population. In this context, gene drift is usually triggered by a random event, such as a natural disaster, the shifting of continental plates, or the eruption of volcanoes. Thus, gene drift represents an evolutionary factor. What is gendrift? Gendrift represents an important … Gendrift: Function, Task & Diseases
Leber’s congenital amaurosis is a hereditary disorder of the function of the retina of the eye. Primarily, a specific pigment epithelium located on the retina is affected by the impairment. The term of the disease is derived from the Greek word ‘amauros’, which means blind or dark. Leber’s congenital amaurosis is congenital and also includes … Leber Congenital Amaurosis: Causes, Symptoms & Treatment
In medicine, Leber’s optic atrophy refers to a disease that affects the optic nerves of the eyes. It leads to degeneration of the fibers, resulting in massive limitations of vision and even blindness. What is Leber’s optic atrophy? Leber’s optic atrophy is a rare inherited disorder that affects eye health. Despite its slightly misleading name, … Lebers Optic Atrophy: Causes, Symptoms & Treatment
A neurinoma is a tumor that grows from Schwann’s cells and is benign. Depending on the location of the tumor, symptoms can vary greatly from case to case; however, pain and nerve loss are particularly common. Treatment options primarily include surgical removal of the neurinoma and radiation therapy. What is a neurinoma? Neurinoma is a … Neurinoma: Causes, Symptoms & Treatment
Pitt-Hopkins syndrome is the name given to an extremely rare genetic disorder that has no cure. The genetic defect results in motor and intellectual disabilities, among other symptoms. What is Pitt-Hopkins syndrome? Pitt-Hopkins syndrome (PHS) is a genetic disorder associated with mental retardation, inadequate or complete absence of spoken language, epilepsy, and respiratory regulation disorders. … Pitt-Hopkins Syndrome: Causes, Symptoms & Treatment
Red cell osmotic resistance is a measure of how strongly the membranes surrounding red cells resist an osmotic pressure gradient. A partial osmotic pressure develops at the semipermeable membranes of erythrocytes when they are surrounded by a saline solution that is below their own (physiological) salt concentration of 0.9 percent. Red blood cells absorb water … Erythrocyte Osmotic Resistance: Function, Role & Diseases
The Bayliss effect maintains constant blood flow to organs such as the brain and kidneys despite everyday fluctuations in blood pressure. At elevated pressures, the effect induces vasoconstriction of vascular muscle. Disruption of the Bayliss effect results in persistent hyperemia and edema formation in the extracellular space. What is the Bayliss effect? The Bayliss effect … Bayliss Effect: Function, Tasks, Role & Diseases
In situ hybridization is a method for detecting chromosomal aberrations. It involves labeling specific chromosomes with flouroscent dyes and binding them to a DNA probe. This technique is used for prenatal diagnosis of genetic mutations. What is in situ hybridization? In situ hybridization involves labeling specific chromosomes with flouroscent dyes and binding them to a … In Situ Hybridization: Treatment, Effects & Risks