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Maroteaux–Lamy Syndrome
Maroteaux–Lamy syndrome, or mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease. Signs and symptoms Unlike other MPS diseases, children with Maroteaux–Lamy syndrome usually have normal intelligence. They share many of the physical symptoms found in Hurler syndrome. Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or tr ... [...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] |
Dermatan Sulfate
Dermatan sulfate is a glycosaminoglycan (formerly called a mucopolysaccharide) found mostly in skin, but also in blood vessels, heart valves, tendons, and lungs. It is also referred to as chondroitin sulfate B, although it is no longer classified as a form of chondroitin sulfate by most sources. The formula is C14H21NO15S. This carbohydrate is composed of linear polymers of disaccharide units that contain, N-acetyl galactosamine (GalNAc) and iduronic acid (IdoA). These repeating units are sulfated at a variety of positions. Dermatan sulfate is a component of the compound sulodexide. Function Dermatan sulfate may have roles in coagulation, cardiovascular disease, carcinogenesis, infection, wound repair, maintaining the shape of galactosamine 4-sulfate, skin, and fibrosis. Pathology Dermatan sulfate accumulates abnormally in several of the mucopolysaccharidosis disorders. An excess of dermatan sulfate in the mitral valve is characteristic of myxomatous degeneration of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdomen
The abdomen (colloquially called the gut, belly, tummy, midriff, tucky, or stomach) is the front part of the torso between the thorax (chest) and pelvis in humans and in other vertebrates. The area occupied by the abdomen is called the abdominal cavity. In arthropods, it is the posterior (anatomy), posterior tagma (biology), tagma of the body; it follows the thorax or cephalothorax. In humans, the abdomen stretches from the thorax at the thoracic diaphragm to the pelvis at the pelvic brim. The pelvic brim stretches from the lumbosacral joint (the intervertebral disc between Lumbar vertebrae, L5 and Vertebra#Sacrum, S1) to the pubic symphysis and is the edge of the pelvic inlet. The space above this inlet and under the thoracic diaphragm is termed the abdominal cavity. The boundary of the abdominal cavity is the abdominal wall in the front and the peritoneal surface at the rear. In vertebrates, the abdomen is a large body cavity enclosed by the abdominal muscles, at the front an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trunk (anatomy)
The torso or trunk is an anatomical term for the central part, or the core, of the body of many animals (including human beings), from which the head, neck, limbs, tail and other appendages extend. The tetrapod torso — including that of a human — is usually divided into the ''thoracic'' segment (also known as the upper torso, where the forelimbs extend), the '' abdominal'' segment (also known as the "mid-section" or "midriff"), and the ''pelvic'' and '' perineal'' segments (sometimes known together with the abdomen as the lower torso, where the hindlimbs extend). Anatomy Major organs In humans, most critical organs, with the notable exception of the brain, are housed within the torso. In the upper chest, the heart and lungs are protected by the rib cage, and the abdomen contains most of the organs responsible for digestion: the stomach, which breaks down partially digested food via gastric acid; the liver, which respectively produces bile necessary for digestion; the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve Root
A nerve root () is the initial segment of a nerve leaving the central nervous system. Nerve roots can be classified as: * Cranial nerve roots: the initial or proximal segment of one of the twelve pairs of cranial nerves leaving the central nervous system from the brain stem or the highest levels of the spinal cord. * Spinal nerve roots: the initial or proximal segment of one of the 31 pairs of spinal nerves leaving the central nervous system from the spinal cord. Each spinal nerve is a mixed nerve formed by the union of a sensory dorsal root and a motor ventral root, meaning that there are 62 dorsal/ventral root pairs, and therefore 124 nerve roots in total, each of which stems from a bundle of nerve rootlets (or root filaments). Cranial nerve roots Cranial nerves originate directly from the brain's surface: two from the cerebrum and the ten others from the brain stem. Cranial roots differ from spinal roots: some of these roots do not separate into individual sensory (dorsal) and m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve
A nerve is an enclosed, cable-like bundle of nerve fibers (called axons). Nerves have historically been considered the basic units of the peripheral nervous system. A nerve provides a common pathway for the Electrochemistry, electrochemical nerve impulses called action potentials that are transmitted along each of the axons to peripheral organs or, in the case of sensory nerves, from the periphery back to the central nervous system. Each axon is an extension of an individual neuron, along with other supportive cells such as some Schwann cells that coat the axons in myelin. Each axon is surrounded by a layer of connective tissue called the endoneurium. The axons are bundled together into groups called Nerve fascicle, fascicles, and each fascicle is wrapped in a layer of connective tissue called the perineurium. The entire nerve is wrapped in a layer of connective tissue called the epineurium. Nerve cells (often called neurons) are further classified as either Sensory neuron, sens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pain
Pain is a distressing feeling often caused by intense or damaging Stimulus (physiology), stimuli. The International Association for the Study of Pain defines pain as "an unpleasant sense, sensory and emotional experience associated with, or resembling that associated with, actual or potential tissue damage." Pain motivates organisms to withdraw from damaging situations, to protect a damaged body part while it heals, and to avoid similar experiences in the future. Congenital insensitivity to pain may result in reduced life expectancy. Most pain resolves once the noxious stimulus is removed and the body has healed, but it may persist despite removal of the stimulus and apparent healing of the body. Sometimes pain arises in the absence of any detectable stimulus, damage or disease. Pain is the most common reason for physician consultation in most developed countries. It is a major symptom in many medical conditions, and can interfere with a person's quality of life and general fun ... [...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] |
Brain
The brain is an organ (biology), organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head (cephalization), usually near organs for special senses such as visual perception, vision, hearing, and olfaction. Being the most specialized organ, it is responsible for receiving information from the sensory nervous system, processing that information (thought, cognition, and intelligence) and the coordination of motor control (muscle activity and endocrine system). While invertebrate brains arise from paired segmental ganglia (each of which is only responsible for the respective segmentation (biology), body segment) of the ventral nerve cord, vertebrate brains develop axially from the midline dorsal nerve cord as a brain vesicle, vesicular enlargement at the rostral (anatomical term), rostral end of the neural tube, with centralized control over all body segments. All vertebr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Membrane
A membrane is a selective barrier; it allows some things to pass through but stops others. Such things may be molecules, ions, or other small particles. Membranes can be generally classified into synthetic membranes and biological membranes. Biological membranes include cell membranes (outer coverings of cells or organelles that allow passage of certain constituents); nuclear membranes, which cover a cell nucleus; and tissue membranes, such as mucous membrane, mucosae and serous membrane, serosae. Synthetic membranes are made by humans for use in laboratory, laboratories and industry (such as chemical plants). This concept of a membrane has been known since the eighteenth century but was used little outside of the laboratory until the end of World War II. Drinking water supplies in Europe had been compromised by The War and membrane filters were used to test for water safety. However, due to the lack of reliability, slow operation, reduced selectivity and elevated costs, membran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate with a deafness aid or through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difficulties such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, eve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
