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Amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and Orthostatic hypotension, feeling faint with standing. In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura. In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, Small fiber peripheral neuropathy, small fiber neuropathy, and autonomic dysfunction. There are about 36 different types of amyloidosis, each due to a specific Proteopathy, protein misfolding. Within these 36 proteins, 19 are grouped into Organ-limited amyloidosis, localized forms, 14 are grouped as Systemic disease, systemic forms, and three proteins can identify as either. These proteins can become ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteopathy
In medicine, proteinopathy ( 'pref''. protein -pathy 'suff''. disease proteinopathies ''pl''.; proteinopathic ''adj''), or proteopathy, protein conformational disorder, or protein misfolding disease, is a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body. Often the proteins fail to fold into their normal configuration; in this misfolded state, the proteins can become toxic in some way (a toxic gain-of-function) or they can lose their normal function. The proteinopathies include such diseases as Creutzfeldt–Jakob disease (and a variant associated with mad cow disease) and other prion diseases, Alzheimer's disease, Parkinson's disease, amyloidosis, multiple system atrophy, and a wide range of other disorders. The term ''proteopathy'' was first proposed in 2000 by Lary Walker and Harry LeVine. The concept of proteopathy can trace its origins to the mid-19th century, wh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AL Amyloidosis
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. The disease is caused when a person's antibody-producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains. These light chains come together to form amyloid deposits which can cause serious damage to different organs. An abnormal light chain in urine is known as Bence Jones protein. Signs and symptoms AL amyloidosis can affect a wide range of organs, and consequently present with a range of symptoms. Non-specific symptoms may include fatigue and weight loss. The kidneys are commonly affected in systemic AL amyloidosis with 60–70% of people having kidney involvement. Symptoms of kidney disease and kidney failure can include fluid retention, swelling, and shortness of breath. Other manifestations of kidney involvement may include protein loss in the urine, low albumin levels in the blood an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AA Amyloidosis
AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in the extracellular space of various tissues and organs. In AA amyloidosis, the deposited protein is serum amyloid A protein (SAA), an acute-phase protein which is normally soluble and whose plasma concentration is highest during inflammation. Causes AA amyloidosis is a complication of a number of inflammatory diseases and infections, although only a small portion of patients with these conditions will go on to develop AA amyloidosis. The most common presentation of AA amyloidosis is renal in nature, including proteinuria, nephrotic syndrome and progressive development of chronic kidney disease leading to end stage kidney disease (ESKD) and need for renal replacement therapy (e.g. dialysis or kidney transplantation). A natural history study of AA amyloidosis patients reported a number of conditions associated with AA amyloidosis: * Autoimmune diseases a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloid Fibrils
Amyloids are aggregates of proteins characterised by a fibrillar morphology of typically 7–13 nm in diameter, a β-sheet secondary structure (known as cross-β) and ability to be stained by particular dyes, such as Congo red. In the human body, amyloids have been linked to the development of various diseases. Pathogenic amyloids form when previously healthy proteins lose their normal structure and physiological functions ( misfolding) and form fibrous deposits within and around cells. These protein misfolding and deposition processes disrupt the healthy function of tissues and organs. Such amyloids have been associated with (but not necessarily as the cause of) more than 50 human diseases, known as amyloidosis, and may play a role in some neurodegenerative diseases. Some of these diseases are mainly sporadic and only a few cases are familial. Others are only familial. Some result from medical treatment. Prions are an infectious form of amyloids that can act as a template ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wild-type Transthyretin Amyloid
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal) protein called transthyretin. This is in contrast to a related condition called transthyretin-related hereditary amyloidosis where a genetically mutated transthyretin protein tends to deposit much earlier than in WTTA due to abnormal conformation and bioprocessing. It belongs to a group of diseases called amyloidosis, chronic progressive conditions linked to abnormal deposition of normal or abnormal proteins, because these proteins are misshapen and cannot be properly degraded and eliminated by the cell metabolism. Signs and symptoms Wild-type transthyretin amyloid accumulates mainly in the heart, where it causes stiffness and often thickening of its walls, leading consequently to shortness of breath and intolerance to exercise, called diasto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy, also called hereditary transthyretin amyloidosis (hATTR), 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, causing a progressive sensory and motor polyneuropathy. Cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemodialysis-associated Amyloidosis
Haemodialysis-associated amyloidosis is a form of systemic amyloidosis associated with chronic kidney failure. Amyloidosis is the accumulation of misfolded protein fibers in the body that can be associated with many chronic illnesses. Even though amyloidosis is common in chronic kidney disease (CKD) patients receiving chronic regular dialysis, it has also been reported in a patient with chronic kidney failure but who never received dialysis. Presentation Long-term haemodialysis results in a gradual accumulation of β2 microglobulin, a serum protein, in the blood. It accumulates because it is unable to cross the dialysis filter. Affected individuals usually present after 5 years of dialysis rarely before that. The tendency of haemodialysis-associated amyloidosis is to be articular in general affecting the joints. Diagnosis Prevention The mainstay of management of the dialysis related amyloidosis is the prevention than the other type of treatment methods. Because most of the m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carpal Tunnel Syndrome
Carpal tunnel syndrome (CTS) is a nerve compression syndrome associated with the collected signs and symptoms of Pathophysiology of nerve entrapment#Compression, compression of the median nerve at the carpal tunnel in the wrist. Carpal tunnel syndrome usually has no known cause, but there are environmental and medical risk factors associated with the condition.> CTS can affect both wrists. Other conditions can cause CTS such as wrist fracture or rheumatoid arthritis. After fracture, the resulting swelling, bleeding, and deformity compress the median nerve. With rheumatoid arthritis, the enlarged synovial membrane, synovial lining of the tendons causes compression. The main symptoms are numbness and Paresthesia, tingling of the thumb, index finger, middle finger, and the thumb side of the ring finger, as well as pain in the hand and fingers. Symptoms are typically most troublesome at night. Many people sleep with their wrists bent, and the ensuing symptoms may lead to awake ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macroglossia
Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, Dysphagia, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause. Signs and symptoms Although it may be asymptomatic, symptoms usually are more likely to be present and more severe with larger tongue enlargements. Signs and symptoms include: * Dyspnea – difficult, noisy breathing, obstructive sleep apnea or airway obstruction * Dysphagia – difficulty swallowing and eating * Dysphonia – disrupted speech, possibly manifest as lisping * Sialorrhea – drooling * Angular cheilitis – sores at the corners of the mouth * Crenated tongue – indentations on the lateral borders of the tongue caused by pressure from teeth ("pie crust tongue") * Open bite malocclusion – a type of malocclusion of the teeth * Mandibular prognathis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autonomic Dysfunction
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This condition may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome. Diagnosis is made by functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysautono ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polyneuropathy
Polyneuropathy () is damage or disease affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome. Classification Polyneuropathies may be classified in different ways, such as by ''cause'', by ''presentation'', or by ''classes'' of polyneuropathy, in terms of which part of the nerve cell is affected mainly: the axon, the myelin sheath, or the cell body. * ''Distal axonopathy'', is the result of interrupted function of the peripheral nerves. It is the most common response of neurons to metabolic or toxic disturbances, and may be caused by metabolic diseases such as diabe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organomegaly
Organomegaly is the abnormal enlargement of organs. For example, cardiomegaly is enlargement of the heart. Visceromegaly is the enlargement of abdominal organs. Examples of visceromegaly are enlarged liver (hepatomegaly), spleen (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 circulat ...), stomach, kidneys, and pancreas. Definitions for various organs Values refer to adults unless otherwise specified. References {{Digestive system and abdomen symptoms and signs Medical signs Symptoms and signs: Digestive system and abdomen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
