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Phakomatoses
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an Dominance (genetics), autosomal dominant, Dominance (genetics), autosomal recessive or Sex linkage, X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to Mosaic (genetics), mosaicism, variable Expressivity (genetics), expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning of the MAPK/ERK pathway, RAS–mitogen-activated protein kinase (MAPK) pathway and the PI3K/AKT/mTOR pathway that regulates cellular growth, differentiation, proliferation and death. This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the par ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. neurofibromatosis type I, Neurofibromatosis type I (NF1) is typically characterized by Café au lait spot, café au lait spots (light-brown flat patches of skin), Neurofibroma, neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and Headache, headaches. neurofibromatosis type II, Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. These c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aneurysm
An aneurysm is an outward :wikt:bulge, bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a wikt:Special:Search/nidus, nidus (starting point) for clot formation (thrombosis) and Embolism, embolization. As an aneurysm increases in size, the risk of rupture increases, which could lead to uncontrolled bleeding. Although they may occur in any blood vessel, particularly lethal examples include aneurysms of the circle of Willis in the brain, aortic aneurysms affecting the thoracic aorta, and abdominal aortic aneurysms. Aneurysms can arise in the heart itself following a Myocardial infarction, heart attack, including both Ventricular aneurysm, ventricular and atrial septal aneurysms. There are congenital atrial septal defect, atrial septal aneurysms, a rare heart defect. Etymology The word is from Greek language, Greek: ἀνεύρ� ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stenosis Of Pulmonary Artery
Pulmonary artery stenosis (PAS) is a narrowing of the pulmonary artery. The pulmonary artery is a blood vessel moving blood from the right side of the heart to the lungs. This narrowing can be due to many causes, including infection during pregnancy, a congenital heart defect, a problem with blood clotting in childhood or early adulthood, or a genetic change. The narrowing can occur at many points along the pulmonary artery. The specific location indicates severity and affects treatment options. Most people with high-risk PAS are neonates, newborns, and young children. The more severe the disease the more likely it is to present with symptoms. With high-risk patients, it is necessary and acceptable to actively treat, to avoid worsening blood pressure, poor heart function, and worsening vessel disease across the body. Blood flows in a methodical way through the body. Blood that has already delivered oxygen returns to the heart. It arrives at the right upper chamber, gets pumped tho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Artery Stenosis
Renal artery stenosis (RAS) is the narrowing of one or both of the renal arteries, most often caused by atherosclerosis or fibromuscular dysplasia. This narrowing of the renal artery can impede blood flow to the target kidney, resulting in renovascular hypertension – a secondary type of high blood pressure. Possible complications of renal artery stenosis are chronic kidney disease and coronary artery disease. Signs and symptoms Most cases of renal artery stenosis are asymptomatic, and the main problem is high blood pressure that cannot be controlled with medication. Decreased kidney function may develop if both kidneys do not receive adequate blood flow, furthermore some people with renal artery stenosis present with episodes of flash pulmonary edema. Cause Renal artery stenosis is most often caused by atherosclerosis which causes the renal arteries to harden and narrow due to the build-up of plaque. This is known as atherosclerotic renovascular disease, which accounts f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Fracture
A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of any bone in the body. In more severe cases, the bone may be broken into several fragments, known as a ''comminuted fracture''. An open fracture (or compound fracture) is a bone fracture where the broken bone breaks through the skin. A bone fracture may be the result of high force Impact force, impact or Stress fracture, stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. Most bone fractures require urgent medical attention to prevent further injury. Signs and symptoms Although bone tissue contains no nociceptors, pain receptors, a bone fracture is painful for several reasons: * Breaking in the continuity of the periosteum, with or without similar disconti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right). The cause of most cases is unknown, but it is believed to involve a combination of Genetics, genetic and environmental factors. Scoliosis most often occurs during growth spurts right before puberty. Risk factors include other affected family members. It can also occur due to anoth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoporosis
Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to more porous bone, and consequent increase in Bone fracture, fracture risk. It is the most common reason for a broken bone among the Old age, elderly. Bones that commonly break include the vertebrae in the Vertebral column, spine, the bones of the forearm, the wrist, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. After the broken bone heals, some people may have chronic pain and a decreased ability to carry out normal activities. Osteoporosis may be due to lower-than-normal peak bone mass, maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause in women due to lower levels of estrogen, and after andropause in older men due to lower levels of testosterone. Osteoporosis may also occur due to a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopenia
Osteopenia, known as "low bone mass" or "low bone density", is a condition in which bone mineral density is low. Because their bones are weaker, people with osteopenia may have a higher risk of fractures, and some people may go on to develop osteoporosis. In 2010, 43 million older adults in the US had osteopenia. Unlike osteoporosis, osteopenia does not usually cause symptoms, and losing bone density in itself does not cause pain. There is no single cause for osteopenia, although there are several risk factors, including modifiable (behavioral, including dietary and use of certain drugs) and non-modifiable (for instance, loss of bone mass with age). For people with risk factors, screening via a DXA scanner may help to detect the development and progression of low bone density. Prevention of low bone density may begin early in life and includes a healthy diet and weight-bearing exercise, as well as avoidance of tobacco and alcohol. The treatment of osteopenia is controversial ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, focused interests, and repetitive behaviors, which may include stimming. Formal diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and non-speaking populations. Increased estimates of autism prevalence since the 1990s are primarily attributed to broader cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
