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Bethlem Myopathy
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. Gower's sign, tiptoe-walking and contractures of the joints (especially the fingers) are typical signs and symptoms of the disease. Bethlem myopathy could be diagnosed based on clinical examinations and laboratory tests may be recommended. Currently there is no cure for the disease and symptomatic treatment is used to relieve symptoms and improve quality of life. Bethlem myopathy affects about 1 in 200,000 people. Signs and symptoms The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life. The progression is slow, with symptoms of weakness and walking difficulties sometimes not presenting until middle age. Early symptoms include Gower's sign ("climbing" up the thighs with the hands when rising fr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Serum
Serum () is the fluid and solute component of blood which does not play a role in clotting. It may be defined as blood plasma without the clotting factors, or as blood with all cells and clotting factors removed. Serum includes all proteins not used in blood clotting; all electrolytes, antibodies, antigens, hormones; and any exogenous substances (e.g., drugs or microorganisms). Serum does not contain white blood cells (leukocytes), red blood cells (erythrocytes), platelets, or clotting factors. The study of serum is serology. Serum is used in numerous diagnostic tests as well as blood typing. Measuring the concentration of various molecules can be useful for many applications, such as determining the therapeutic index of a drug candidate in a clinical trial. To obtain serum, a blood sample is allowed to clot (coagulation). The sample is then centrifuged to remove the clot and blood cells, and the resulting liquid supernatant is serum. Clinical and laboratory uses The serum of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mobility Aid
A mobility aid is a device designed to assist walking or otherwise improve the mobility of people with a mobility impairment. There are various walking aids which can help people with impaired ability to walk, and wheelchairs or mobility scooters for more severe disability or longer journeys which would otherwise be undertaken on foot. For people who are blind or visually impaired the white cane and guide dog have a long history of use. Other aids can help with mobility or transfer within a building or where there are changes of level. Traditionally the phrase "mobility aid" has applied mainly to low technology mechanical devices. The term also appears in government documents, for example dealing with tax concessions of various kinds. It refers to those devices whose use enables a freedom of movement similar to that of unassisted walking or standing up from a chair. Technical advances can be expected to increase the scope of these devices considerably, for example by use of sen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Splint (medicine)
A splint is defined as "a rigid or flexible device that maintains in position a displaced or movable part; also used to keep in place and protect an injured part" or as "a rigid or flexible material used to protect, immobilize, or restrict motion in a part". Splints can be used for injuries that are not severe enough to immobilize the entire injured structure of the body. For instance, a splint can be used for certain fractures, soft tissue sprains, tendon injuries, or injuries awaiting orthopedic treatment. A splint may be static, not allowing motion, or dynamic, allowing controlled motion. Splints can also be used to relieve pain in damaged joints. Splints are quick and easy to apply and do not require a plastering technique. Splints are often made out of some kind of flexible material and a firm pole-like structure for stability. They often buckle or Velcro together. Uses * By the emergency medical services or by volunteer first responders, to temporarily immobilize a fract ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthotics
Orthotics ( el, Ορθός, translit=ortho, lit=to straighten, to align) is a medical specialty that focuses on the design and application of orthoses, or braces. An is "an externally applied device used to influence the structural and functional characteristics of the Neuromuscular junction, neuromuscular and Skeletal muscle, skeletal system". Orthotists are professionals who specialize in the provision of orthoses. Classification Orthotic devices are classified into four areas of the body according to the international classification system (ICS): orthotics of the Human leg, lower extremities, orthotics of the Upper limb, upper extremities, orthotics for the Torso, trunk, and orthotics for the head. Orthoses are also classified by function: paralysis orthoses, relief orthoses, and soft braces. Under the International standard, International Standard terminology, orthoses are classified by an acronym describing the anatomical joints which they contain. For example, a knee ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stretching Exercises
Stretching is a form of physical exercise in which a specific muscle or tendon (or muscle group) is deliberately flexed or stretched in order to improve the muscle's felt elasticity and achieve comfortable muscle tone. The result is a feeling of increased muscle control, flexibility, and range of motion. Stretching is also used therapeutically to alleviate cramps and to improve function in daily activities by increasing range of motion. In its most basic form, stretching is a natural and instinctive activity; it is performed by humans and many other animals. It can be accompanied by yawning. Stretching often occurs instinctively after waking from sleep, after long periods of inactivity, or after exiting confined spaces and areas. Not only vertebrates (mammals and birds), but also spiders were found to exhibit stretching in 2021. Increasing flexibility through stretching is one of the basic tenets of physical fitness. It is common for athletes to stretch before (for warming up ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and physic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Symptomatic Treatment
Symptomatic treatment, supportive care, supportive therapy, or palliative treatment is any medical therapy of a disease that only affects its symptoms, not the underlying cause. It is usually aimed at reducing the signs and symptoms for the comfort and well-being of the patient, but it also may be useful in reducing organic consequences and sequelae of these signs and symptoms of the disease. In many diseases, even in those whose etiologies are known (e.g., most viral diseases, such as influenza and Rift Valley fever), symptomatic treatment is the only treatment available so far. For more detail, see supportive therapy. For conditions like cancer, arthritis, neuropathy, tendinopathy, and injury, it can be useful to distinguish treatments that are supportive/palliative and cannot alter the natural history of the disease (disease modifying treatments). Examples Examples of symptomatic treatments: * Analgesics, to reduce pain * Anti-inflammatory agents, for inflammation caused by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Differential Diagnosis
In healthcare, a differential diagnosis (abbreviated DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each individual option of a possible disease is called a differential diagnosis (e.g., acute bronchitis could be a differential diagnosis in the evaluation of a cough, even if the final diagnosis is common cold). More generally, a differential diagnostic procedure is a systematic diagnostic method used to identify the presence of a disease entity where multiple alternatives are possible. This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that shrinks the "p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ullrich Congenital Muscular Dystrophy
Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. Signs and symptoms The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows: * Muscle weakness * Difficulty walking * Contractures (predominantly in proximal muscles, e.g. neck) * Joint looseness (predominantly in distal joints) Genetics In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein. Diagnos ... [...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] |
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to generate images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from CT and PET scans. MRI is a medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other NMR applications, such as NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft-tissues, e.g. in the brain or abdomen. However, it may be perceived as less comfortable by patients, due to the usually longer and louder measurements with the subject in a long, confining tube, though "Open" MRI designs mostly relieve this. Additionally, implants and oth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
