Hereditary Neuralgic Amyotrophy
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Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. In about half of the cases it is associated with a mutation of the ''SEPT9'' gene (17q25). While not much is known about this disorder, it has been characterized to be similar to Parsonage-Turner syndrome in prognosis. Symptoms and signs Symptoms of HNA may include pain in the back, neck, arms, or shoulders, nerve pulls in the arms or back, muscular atrophy, and weakness. Presentation HNA is an episodic disorder; it is characterized by episodes generally lasting 1–6 weeks. During an episode, the nerves of the brachial plexus are targeted by the body as antigens, and the body's immune system begins to damage the nerves of the brachial plexus. The exact order or location of the nerve degeneration cannot be predicted before an episode. Other areas of the nervous system that have been affected are the phrenic nerves and the recurrent lary ...
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Nerve Damage
Nerve injury is an injury to nervous tissue. There is no single classification system that can describe all the many variations of nerve injuries. In 1941, Seddon introduced a classification of nerve injuries based on three main types of nerve fiber injury and whether there is continuity of the nerve. Usually, however, peripheral nerve injuries are classified in five stages, based on the extent of damage to both the nerve and the surrounding connective tissue, since supporting glial cells may be involved. Unlike in the central nervous system, neuroregeneration in the peripheral nervous system is possible. The processes that occur in peripheral regeneration can be divided into the following major events: Wallerian degeneration, axon regeneration/growth, and reinnervation of nervous tissue. The events that occur in peripheral regeneration occur with respect to the axis of the nerve injury. The proximal stump refers to the end of the injured neuron that is still attached to the ne ...
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Muscle Atrophy
Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability. Disuse causes rapid muscle atrophy and often occurs during injury or illness that requires immobilization of a limb or bed rest. Depending on the duration of disuse and the health of the individual, this may be fully reversed with activity. Malnutrition first causes fat loss but may progress to muscle atrophy in prolonged starvation and can be reversed with nutritional therapy. In contrast, cachexia is a wasting syndrome caused by an underlying disease such as cancer that causes dramatic muscle atrophy and cannot be completely reversed with nutritional therapy. Sarcopenia is age-related muscle atrophy and can be slowed by exercise. Finally, diseases of the muscles such as muscular dystrophy or myopathies can cause ...
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SEPT9
Septin-9 is a protein that in humans is encoded by the ''SEPT9'' gene. Interactions SEPT9 has been shown to interact with SEPT2 and SEPT7. Function Along with AHNAK, eIF4E and S100A11, SEPT9 has been shown to be essential for pseudopod protrusion, tumor cell migration and invasion. Clinical significance The v2 region of the SEPT9 promoter has been shown to be methylated In the chemical sciences, methylation denotes the addition of a methyl group on a substrate, or the substitution of an atom (or group) by a methyl group. Methylation is a form of alkylation, with a methyl group replacing a hydrogen atom. These ... in colorectal cancer tissue compared with normal colonic mucosa. Using highly sensitive real time PCR assays, methylated SEPT9 was detected in the blood of colorectal cancer patients. This alternate methylation pattern in cancer samples is suggestive of an aberrant activation or repression of the gene compared to normal tissue samples. Testing to detec ...
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Brachial Plexus
The brachial plexus is a network () of nerves formed by the anterior rami of the lower four cervical nerves and first thoracic nerve ( C5, C6, C7, C8, and T1). This plexus extends from the spinal cord, through the cervicoaxillary canal in the neck, over the first rib, and into the armpit, it supplies afferent and efferent nerve fibers the to chest, shoulder, arm, forearm, and hand. Structure The brachial plexus is divided into five ''roots'', three ''trunks'', six ''divisions'' (three anterior and three posterior), three ''cords'', and five ''branches''. There are five "terminal" branches and numerous other "pre-terminal" or "collateral" branches, such as the subscapular nerve, the thoracodorsal nerve, and the long thoracic nerve, that leave the plexus at various points along its length. A common structure used to identify part of the brachial plexus in cadaver dissections is the M or W shape made by the musculocutaneous nerve, lateral cord, median nerve, medial cord, and ...
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Phrenic Nerve
The phrenic nerve is a mixed motor/sensory nerve which originates from the C3-C5 spinal nerves in the neck. The nerve is important for breathing because it provides exclusive motor control of the diaphragm, the primary muscle of respiration. In humans, the right and left phrenic nerves are primarily supplied by the C4 spinal nerve, but there is also contribution from the C3 and C5 spinal nerves. From its origin in the neck, the nerve travels downward into the chest to pass between the heart and lungs towards the diaphragm. In addition to motor fibers, the phrenic nerve contains sensory fibers, which receive input from the central tendon of the diaphragm and the mediastinal pleura, as well as some sympathetic nerve fibers. Although the nerve receives contributions from nerves roots of the cervical plexus and the brachial plexus, it is usually considered separate from either plexus. The name of the nerve comes from Ancient Greek ''phren'' 'diaphragm'. Structure The phrenic n ...
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Recurrent Laryngeal Nerve
The recurrent laryngeal nerve (RLN) is a branch of the vagus nerve (cranial nerve X) that supplies all the intrinsic muscles of the larynx, with the exception of the cricothyroid muscles. There are two recurrent laryngeal nerves, right and left. The right and left nerves are not symmetrical, with the left nerve looping under the aortic arch, and the right nerve looping under the right subclavian artery then traveling upwards. They both travel alongside the trachea. Additionally, the nerves are among the few nerves that follow a ''recurrent'' course, moving in the opposite direction to the nerve they branch from, a fact from which they gain their name. The recurrent laryngeal nerves supply sensation to the larynx below the vocal cords, give cardiac branches to the deep cardiac plexus, and branch to the trachea, esophagus and the inferior constrictor muscles. The posterior cricoarytenoid muscles, the only muscles that can open the vocal folds, are innervated by this nerve. Th ...
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Deltoid Muscle
The deltoid muscle is the muscle forming the rounded contour of the human shoulder. It is also known as the 'common shoulder muscle', particularly in other animals such as the domestic cat. Anatomically, the deltoid muscle appears to be made up of three distinct sets of muscle fibers, namely the # anterior or clavicular part (pars clavicularis) # posterior or scapular part (pars scapularis) # intermediate or acromial part (pars acromialis) However, electromyography suggests that it consists of at least seven groups that can be independently coordinated by the nervous system. It was previously called the deltoideus (plural ''deltoidei'') and the name is still used by some anatomists. It is called so because it is in the shape of the Greek capital letter delta (Δ). Deltoid is also further shortened in slang as "delt". A study of 30 shoulders revealed an average mass of in humans, ranging from to . Structure Previous studies showed that the insertions of the tendons of the delto ...
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Human Pharynx
The pharynx (plural: pharynges) is the part of the throat behind the mouth and nasal cavity, and above the oesophagus and trachea (the tubes going down to the stomach and the lungs). It is found in vertebrates and invertebrates, though its structure varies across species. The pharynx carries food and air to the esophagus and larynx respectively. The flap of cartilage called the epiglottis stops food from entering the larynx. In humans, the pharynx is part of the digestive system and the conducting zone of the respiratory system. (The conducting zone—which also includes the nostrils of the nose, the larynx, trachea, bronchi, and bronchioles—filters, warms and moistens air and conducts it into the lungs). The human pharynx is conventionally divided into three sections: the nasopharynx, oropharynx, and laryngopharynx. It is also important in vocalization. In humans, two sets of pharyngeal muscles form the pharynx and determine the shape of its lumen. They are arranged as an i ...
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Prednisone
Prednisone is a glucocorticoid medication mostly used to immunosuppressive drug, suppress the immune system and decrease inflammation in conditions such as asthma, COPD, and rheumatologic diseases. It is also used to treat high blood calcium due to cancer and adrenal insufficiency along with other steroids. It is taken Oral administration, by mouth. Common side effects with long-term use include cataracts, Osteoporosis, bone loss, easy bruising, muscle weakness, and oral candidiasis, thrush. Other side effects include weight gain, swelling, high blood sugar, increased risk of infection, and psychosis. It is generally considered safe in pregnancy and low doses appear to be safe when breastfeeding. After prolonged use, prednisone needs to be stopped gradually. Prednisone is a prodrug and must be converted to prednisolone by the liver before it becomes active. Prednisolone then binds to glucocorticoid receptors, activating them and triggering changes in gene expression. Pred ...
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Parsonage Turner Syndrome
A clergy house is the residence, or former residence, of one or more priests or ministers of religion. Residences of this type can have a variety of names, such as manse, parsonage, rectory or vicarage. Function A clergy house is typically owned and maintained by a church, as a benefit to its clergy. This practice exists in many denominations because of the tendency of clergy to be transferred from one church to another at relatively frequent intervals. Also, in smaller communities, suitable housing is not as available. In addition, such a residence can be supplied in lieu of salary, which may not be able to be provided (especially at smaller congregations). Catholic clergy houses in particular may be lived in by several priests from a parish. Clergy houses frequently serve as the administrative office of the local parish, as well as a residence. They are normally located next to, or at least close to, the church their occupant serves. Partly because of the general conservati ...
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Syndromes
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ...
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Neurological Disorders
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialities of neurology and clinical neuropsychology. Interventions foneurological disordersinclude preventive measures, lifestyle changes, physiotherapy or other therapy, neurorehabilitation, pain management, medication, operations performed by neurosurgeons or a specific diet. The World Health Organization estimated in 2006 that neurological disorders and their sequelae (direct consequences) affect as many as one billion people worldwide, and identified heal ...
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