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Hereditary Transthyretin-mediated Amyloidosis
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, is an autosomal dominant neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952. FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary cause of death for 70% of supercentenarians who have been autopsied. FAP can be ameliorated by liver transplantation. Presentation Usually manifesting itself between 20 and 40 years of age, it is characterized by pain, paresthesia, muscular weakness and autonomic dysfunction. In its terminal state, the kidneys and the heart are affected. FAP is characterized by the systemic deposition of amyloidogenic variants of the transthyretin protein, especially in the peripheral nervous system, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transthyretin
Transthyretin (TTR or TBPA) is a transport protein in the plasma and cerebrospinal fluid that transports the thyroid hormone thyroxine (T4) and retinol to the liver. This is how transthyretin gained its name: ''transports thyroxine and retinol''. The liver secretes TTR into the blood, and the choroid plexus secretes TTR into the cerebrospinal fluid. TTR was originally called prealbumin (or thyroxine-binding prealbumin) because it migrated faster than albumin on electrophoresis gels. Prealbumin was felt to be a misleading name, it is not a synthetic precursor of albumin. The alternative name TTR was proposed by DeWitt Goodman in 1981. Transthyretin protein is encoded by the ''TTR'' gene located on the 18th chromosome. Binding affinities It functions in concert with two other thyroid hormone-binding proteins in the serum: In cerebrospinal fluid TTR is the primary carrier of T4. TTR also acts as a carrier of retinol (vitamin A) through its association with retinol-binding pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Nervous System
The peripheral nervous system (PNS) is one of two components that make up the nervous system of bilateral animals, with the other part being the central nervous system (CNS). The PNS consists of nerves and ganglia, which lie outside the brain and the spinal cord. The main function of the PNS is to connect the CNS to the limbs and organs, essentially serving as a relay between the brain and spinal cord and the rest of the body. Unlike the CNS, the PNS is not protected by the vertebral column and skull, or by the blood–brain barrier, which leaves it exposed to toxins. The peripheral nervous system can be divided into the somatic nervous system and the autonomic nervous system. In the somatic nervous system, the cranial nerves are part of the PNS with the exception of the optic nerve (cranial nerve II), along with the retina. The second cranial nerve is not a true peripheral nerve but a tract of the diencephalon. Cranial nerve ganglia, as with all ganglia, are part of the P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Doi (identifier)
A digital object identifier (DOI) is a persistent identifier or handle used to uniquely identify various objects, standardized by the International Organization for Standardization (ISO). DOIs are an implementation of the Handle System; they also fit within the URI system (Uniform Resource Identifier). They are widely used to identify academic, professional, and government information, such as journal articles, research reports, data sets, and official publications. DOIs have also been used to identify other types of information resources, such as commercial videos. A DOI aims to resolve to its target, the information object to which the DOI refers. This is achieved by binding the DOI to metadata about the object, such as a URL where the object is located. Thus, by being actionable and interoperable, a DOI differs from ISBNs or ISRCs which are identifiers only. The DOI system uses the indecs Content Model for representing metadata. The DOI for a document remains fixed over th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electrochemical Skin Conductance
Electrochemical skin conductance (ESC) is an objective, non-invasive and quantitative electrophysiological measure. It is based on reverse iontophoresis and (multiple) steady chronoamperometry (more specifically chronovoltametry). ESC is intended to provide insight into and assess sudomotor (or sweat gland) function and small fiber peripheral neuropathy. Description of the ESC measurement Currently, ESC measurement can be obtained with the use of a medical device, called Sudoscan. No specific patient preparation or medical personnel training is required. The measure lasts less than 3 minutes, and is innocuous and non-invasive. The apparatus consists of stainless-steel electrodes for the hands and the feet which are connected to a computer for recording and data management purposes. To conduct an ESC test, the patients place their hands and feet on the electrodes. Sweat glands are most numerous on the palms of the hands and soles of the feet, and thus well suited for sud ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sudomotor
Sudomotor function refers to the autonomic nervous system control of sweat gland activity in response to various environmental and individual factors. Sweat production is a vital thermoregulatory mechanism used by the body to prevent heat-related illness as the evaporation of sweat is the body’s most effective method of heat reduction and the only cooling method available when the air temperature rises above skin temperature. In addition, sweat plays key roles in grip, microbial defense, and wound healing. Physiology Human sweat glands are primarily classified as either eccrine or apocrine glands. Eccrine glands open directly onto the surface of the skin, while apocrine glands open into hair follicles. Eccrine glands are the predominant sweat gland in the human body with numbers totaling up to 4 million. They are located within the reticular dermal layer of the skin and distributed across nearly the entire surface of the body with the largest numbers occurring in the palms and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autonomic Nervous System
The autonomic nervous system (ANS), formerly referred to as the vegetative nervous system, is a division of the peripheral nervous system that supplies viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control system that acts largely unconsciously and regulates bodily functions, such as the heart rate, its force of contraction, digestion, respiratory rate, pupillary dilation, pupillary response, Micturition, urination, and sexual arousal. This system is the primary mechanism in control of the fight-or-flight response. The autonomic nervous system is regulated by integrated reflexes through the brainstem to the spinal cord and organ (anatomy), organs. Autonomic functions include control of respiration, heart rate, cardiac regulation (the cardiac control center), vasomotor activity (the vasomotor center), and certain reflex, reflex actions such as coughing, sneezing, swallowing and vomiting. Those are then subdivided into other areas and are also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electromyography
Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph to produce a record called an electromyogram. An electromyograph detects the electric potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect abnormalities, activation level, or recruitment order, or to analyze the biomechanics of human or animal movement. Needle EMG is an electrodiagnostic medicine technique commonly used by neurologists. Surface EMG is a non-medical procedure used to assess muscle activation by several professionals, including physiotherapists, kinesiologists and biomedical engineers. In Computer Science, EMG is also used as middleware in gesture recognition towards allowing the input of physical action to a computer as a form of human-computer interaction. Clinical uses EMG testing has a variety of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carpal Tunnel Syndrome
Carpal tunnel syndrome (CTS) is the collection of symptoms and signs associated with median neuropathy at the carpal tunnel. Most CTS is related to idiopathic compression of the median nerve as it travels through the wrist at the carpal tunnel (IMNCT). Idiopathic means that there is no other disease process contributing to pressure on the nerve. As with most structural issues, it occurs in both hands, and the strongest risk factor is genetics. Other conditions can cause CTS such as wrist fracture or rheumatoid arthritis. After fracture, swelling, bleeding, and deformity compress the median nerve. With rheumatoid arthritis, the enlarged synovial lining of the tendons causes compression. The main symptoms are numbness and tingling in the thumb, index finger, middle finger and the thumb side of the ring finger. People often report pain, but pain without tingling is not characteristic of IMNCT. Rather, the numbness can be so intense that it is described as painful. Symptoms are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve Conduction Study
A nerve conduction study (NCS) is a medical diagnostic test commonly used to evaluate the function, especially the ability of electrical conduction, of the motor and sensory nerves of the human body. These tests may be performed by medical specialists such as clinical neurophysiologists, physical therapists, chiropractors, physiatrists (physical medicine and rehabilitation physicians), and neurologists who subspecialize in electrodiagnostic medicine. In the United States, neurologists and physiatrists receive training in electrodiagnostic medicine (performing needle electromyography (EMG) and NCSs) as part of residency training and in some cases acquire additional expertise during a fellowship in clinical neurophysiology, electrodiagnostic medicine, or neuromuscular medicine. Outside the US, clinical neurophysiologists learn needle EMG and NCS testing. Nerve conduction velocity (NCV) is a common measurement made during this test. The term NCV often is used to mean the actual tes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuropathy
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or organ function depending on which nerves are affected; in other words, neuropathy affecting motor, sensory, or autonomic nerves result in different symptoms. More than one type of nerve may be affected simultaneously. Peripheral neuropathy may be acute (with sudden onset, rapid progress) or chronic (symptoms begin subtly and progress slowly), and may be reversible or permanent. Common causes include systemic diseases (such as diabetes or leprosy), hyperglycemia-induced glycation, vitamin deficiency, medication (e.g., chemotherapy, or commonly prescribed antibiotics including metronidazole and the fluoroquinolone class of antibiotics (such as ciprofloxacin, levofloxacin, moxifloxacin)), traumatic injury, ischemia, radiation therapy, exces ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 18 (human)
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to genes o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
