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Mucopolysaccharidoses
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of genetic disorders that result when the lysosome organelle in anim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Disease
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycosaminoglycans
Glycosaminoglycans (GAGs) or mucopolysaccharides are long, linear polysaccharides consisting of repeating disaccharide units (i.e. two-sugar units). The repeating two-sugar unit consists of a uronic acid, uronic sugar and an amino sugar, except in the case of the sulfated glycosaminoglycan keratan sulfate, keratan, where, in place of the uronic sugar there is a galactose unit. GAGs are found in vertebrates, invertebrates and bacteria. Because GAGs are highly polar molecules and attract water; the body uses them as lubricants or shock absorbers. Mucopolysaccharidosis, Mucopolysaccharidoses are a group of metabolic disorders in which abnormal accumulations of glycosaminoglycans occur due to enzyme deficiencies. Production Glycosaminoglycans vary greatly in molecular mass, disaccharide structure, and sulfation. This is because GAG synthesis is not template driven, as are proteins or nucleic acids, but constantly altered by processing enzymes. GAGs are classified into four groups, b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolic Disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are Dominance (genetics), autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Cord
The spinal cord is a long, thin, tubular structure made up of nervous tissue that extends from the medulla oblongata in the lower brainstem to the lumbar region of the vertebral column (backbone) of vertebrate animals. The center of the spinal cord is hollow and contains a structure called the central canal, which contains cerebrospinal fluid. The spinal cord is also covered by meninges and enclosed by the neural arches. Together, the brain and spinal cord make up the central nervous system. In humans, the spinal cord is a continuation of the brainstem and anatomically begins at the occipital bone, passing out of the foramen magnum and then enters the spinal canal at the beginning of the cervical vertebrae. The spinal cord extends down to between the first and second lumbar vertebrae, where it tapers to become the cauda equina. The enclosing bony vertebral column protects the relatively shorter spinal cord. It is around long in adult men and around long in adult women. The diam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hernias
A hernia (: hernias or herniae, from Latin, meaning 'rupture') is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the intestinal tract, referring to the retraction of the intestine from the extra-embryonal navel coelom into the abdomen in the healthy embryo at about 7 weeks. Various types of hernias can occur, most commonly involving the abdomen, and specifically the groin. Groin hernias are most commonly inguinal hernias but may also be femoral hernias. Other types of hernias include hiatus, incisional, and umbilical hernias. Symptoms are present in about 66% of people with groin hernias. This may include pain or discomfort in the lower abdomen, especially with coughing, exercise, or urinating or defecating. Often, it gets worse throughout the day and improves when lying down. A bulge may appear at the site of hernia, that becomes larger when bend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splenomegaly
Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulating blood cells affecting granulocytes, erythrocytes or platelets in any combination; a compensatory proliferative response in the bone marrow; and the potential for correction of these abnormalities by splenectomy. Splenomegaly is usually associated with increased workload (such as in hemolytic anemias), which suggests that it is a response to hyperfunction. It is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen. Other common causes include congestion due to portal hypertension and infiltration by leukemias and lymphomas. Thus, the finding of an enlarged spleen, along with caput medusae, is an important sign of portal hypertension ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatomegaly
Hepatomegaly is enlargement of the liver. It is a non-specific sign (medicine), medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The patient may experience many symptoms, including weight loss, poor appetite, and lethargy; jaundice and bruising may also be present. Causes Among the causes of hepatomegaly are the following: Infective Mechanism The mechanism of hepatomegaly consists of Blood vessel, vascular swelling, inflammation (infectious in origin), and deposition of (1) non-hepatic cells or (2) increased cell contents (such as that due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and Abdominal examination, physical examination, wherein the latter typicall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysplasia
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney. In one of the modern histopathological senses of the term, dysplasia is sometimes differentiated from other categories of tissue change including hyperplasia, metaplasia, and neoplasia, and dysplasias are thus generally not cancerous. An exception is that the myelodysplasias include a range of benign, precancerous, and cancerous forms. Various other dysplasias tend to be precancerous. The word's meanings thus cover a spectrum of histopathological variations. Microscopic scale Epithelial dysplasia Epithelial dysplasia consists of an expa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . ''Disproportionate dwarfism'' is characterized by either Rhizomelia, short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most people with it have a nearly normal life expectancy. People with dwarfism can usually bear children, although there are additional Pregnancy risks, risks to the mother and child depending upon the underlying condition. The most common and recognizable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common causes. Treatment of the condition depends on the u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glaucoma
Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as Intraocular pressure, intraocular pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or the use of some medications. The word ''glaucoma'' comes from the Ancient Greek word (), meaning 'gleaming, blue-green, gray'. Of the different types of glaucoma, the most common are called open-angle glaucoma and closed-angle glaucoma. Inside the eye, a liquid called Aqueous humour, aqueous humor helps to maintain shape and provides nutrients. The aqueous humor normally drains through the trabecular meshwork. In open-angle glaucoma, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Shunt (medical)
In medicine, a shunt is a hole or a small passage that moves, or allows movement of, fluid from one part of the body to another. The term may describe either congenital or acquired shunts; acquired shunts (sometimes referred to as iatrogenic shunts) may be either biological or mechanical. __TOC__ Types * Cardiac shunts may be described as right-to-left, left-to-right or bidirectional, or as systemic-to-pulmonary or pulmonary-to-systemic. * Cerebral shunt: In cases of hydrocephalus and other conditions that cause chronic increased intracranial pressure, a one-way valve is used to drain excess cerebrospinal fluid from the brain and carry it to other parts of the body. This valve usually sits outside the skull but beneath the skin, somewhere behind the ear. Cerebral shunts that drain fluid to the peritoneal cavity (located in the upper abdomen) are called ''ventriculoperitoneal'' (''VP'') shunts. * Lumbar-peritoneal shunt (a.k.a. ''lumboperitoneal'', ''LP''): In cases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
