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Amyloid Degeneration
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 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 neuropathy, and autonomic dysfunction. There are about 36 different types of amyloidosis, each due to a specific protein misfolding. Within these 36 proteins, 19 are grouped into localized forms, 14 are grouped as systemic forms, and three proteins can identify as either. These proteins can become irregular due to genetic effects, as well as through acquired environmental factors. The four most common types of ... [...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] |
Small Fiber Peripheral Neuropathy
Small fiber peripheral neuropathy is a type of peripheral neuropathy that occurs from damage to the small unmyelinated and myelinated peripheral nerve fibers. These fibers, categorized as C fibers and small Aδ fibers, are present in skin, peripheral nerves, and organs.Overview of Small Fiber Neuropathy Therapath Neuropathology. The role of these nerves is to innervate some skin sensations (''somatic afferents'') and help control autonomic function (''autonomic fibers''). It is estimated that 15–20 million people in the United States have some form of peripheral neuropathy. Signs and symptoms Small ...[...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] |
Proteinuria
Proteinuria is the presence of excess proteins in the urine. In healthy persons, urine contains very little protein, less than 150 mg/day; an excess is suggestive of illness. Excess protein in the urine often causes the urine to become foamy (although this symptom may also be caused by other conditions). Severe proteinuria can cause nephrotic syndrome in which there is worsening swelling of the body. Signs and symptoms Proteinuria often causes no symptoms and it may only be discovered incidentally. Foamy urine is considered a cardinal sign of proteinuria, but only a third of people with foamy urine have proteinuria as the underlying cause. It may also be caused by bilirubin in the urine ( bilirubinuria), retrograde ejaculation, pneumaturia (air bubbles in the urine) due to a fistula, or drugs such as pyridium. Causes There are three main mechanisms to cause proteinuria: * Due to disease in the glomerulus * Because of increased quantity of proteins in serum (overflo ... [...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] |
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] |
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] |
Environmental Factor
An environmental factor, ecological factor or eco factor is any factor, abiotic or biotic, that influences living organisms. Abiotic factors include ambient temperature, amount of sunlight, air, soil, water and pH of the water soil in which an organism lives. Biotic factors would include the availability of food organisms and the presence of biological specificity, competitors, predators, and parasites. Overall An organism's genotype (e.g., in the zygote) translated into the adult phenotype through development during an organism's ontogeny, and subject to influences by many environmental effects. In this context, a phenotype (or phenotypic trait) can be viewed as any definable and measurable characteristic of an organism, such as its body mass or Human skin color, skin color. Apart from the true Monogenic (genetics), monogenic genetic disorders, environmental factors may determine the development of disease in those genetically predisposed to a particular condition. Pollut ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Systemic Disease
A systemic disease is one that affects a number of Organ (anatomy), organs and Tissue (biology), tissues, or affects the Human body, body as a whole. It differs from a localized disease, which is a disease affecting only part of the body (e.g., a mouth ulcer). Examples * Mastocytosis, including mast cell activation syndrome and eosinophilic esophagitis * Chronic fatigue syndrome * vasculitis, Systemic vasculitis e.g. Lupus erythematosus, SLE, Polyarteritis nodosa, PAN * Sarcoidosis – a disease that mainly affects the lungs, brain, joints and eyes, found most often in young African-American women. * Hypothyroidism – where the thyroid gland produces too little thyroid hormones. * Diabetes mellitus – an imbalance in blood glucose (sugar) levels. * Fibromyalgia * Ehlers-Danlos syndromes - an inherited connective tissue disorder with multiple subcategories * Adrenal insufficiency – where the adrenal glands don't produce enough steroid hormones * Coeliac disease – an autoimmu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
