|
Limb–girdle Muscular Dystrophy
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment. Signs and symptoms By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, meaning weakness of the muscles on or close to the torso that worsens over time. Explicitly, LGMD preferentially affects muscles of the hip girdle, thigh, shoulder girdle, and/or upper arm. The muscle weakness is generally symmetric. Usually, the hip girdle is the first area to exhibit weakness, manifesting as difficulty walking, going up and/or down stairs, rising from a chair, bending at the waist, or squatting. Because of these difficulties, falling can occur frequently. Weakness of the shoulder girdle can mak ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood. Although there is no know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palpitation
Palpitations are perceived abnormalities of the heartbeat characterized by awareness of cardiac muscle contractions in the chest, which is further characterized by the hard, fast and/or irregular beatings of the heart. Symptoms include a rapid pulsation, an abnormally rapid or irregular beating of the heart. Palpitations are a sensory symptom and are often described as a skipped beat, rapid fluttering in the chest, pounding sensation in the chest or neck, or a flip-flopping in the chest. Palpitation can be associated with anxiety and does not necessarily indicate a structural or functional abnormality of the heart, but it can be a symptom arising from an objectively rapid or irregular heartbeat. Palpitation can be intermittent and of variable frequency and duration, or continuous. Associated symptoms include dizziness, shortness of breath, sweating, headaches and chest pain. Palpitation may be associated with coronary heart disease, hyperthyroidism, diseases affecting card ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sarcoglycan
The sarcoglycans are a family of transmembrane proteins (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma through shearing forces. The dystrophin glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. The sarcoglycan complex is a subcomplex within the DGC and is composed of six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan). The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains. The disorders caused by the mutations of the sarcoglycans are called sarcoglycanopathies. Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated limb-girdle muscular dystrophy. Genes * SGCA * SGCB * SGCD * SGCE * SGCG Gamma-sarcoglycan is a prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sarcoglycanopathies
The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the five sarcoglycan genes: α, β, γ, δ or ε. The five sarcoglycanopathies are: α-sarcoglycanopathy, LGMD2D; β-sarcoglycanopathy, LGMD2E; γ-sarcoglycanopathy, LGMD2C; δ-sarcoglycanopathy, LGMD2F and ε-sarcoglycanopathy, myoclonic dystonia. The four different sarcoglycan genes encode proteins that form a tetrameric complex at the muscle cell plasma membrane. This complex stabilizes the association of dystrophin with the dystroglycans and contributes to the stability of the plasma membrane cytoskeleton. The four sarcoglycan genes are related to each other structurally and functionally, but each has a distinct chromosome location. In outbred populations, the relative frequency of mutations in the four genes is alpha >> beta >> gamma >> delta in an 8:4:2:1 ratio. No common mutations have been identified in outbred populations except the R77C mutation, which accounts for up to one-thi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunohistochemical
Immunohistochemistry (IHC) is the most common application of immunostaining. It involves the process of selectively identifying antigens (proteins) in cells of a tissue section by exploiting the principle of antibodies binding specifically to antigens in biological tissues. IHC takes its name from the roots "immuno", in reference to antibodies used in the procedure, and "histo", meaning tissue (compare to immunocytochemistry). Albert Coons conceptualized and first implemented the procedure in 1941. Visualising an antibody-antigen interaction can be accomplished in a number of ways, mainly either of the following: * ''Chromogenic immunohistochemistry'' (CIH), wherein an antibody is conjugated to an enzyme, such as peroxidase (the combination being termed immunoperoxidase), that can catalyse a colour-producing reaction. * ''Immunofluorescence'', where the antibody is tagged to a fluorophore, such as fluorescein or rhodamine. Immunohistochemical staining is widely used in the diagn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a disease. The tissue is then fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle aspiration biopsy. Biopsies are most commonly performed for insight into possible cancerous or inflammatory conditions. History T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive Gene
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominant Gene
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biological Inheritance
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned skin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Winged Scapula
A winged scapula (scapula alata) is a skeletal medical condition in which the shoulder blade protrudes from a person's back in an abnormal position. In rare conditions it has the potential to lead to limited functional activity in the upper extremity to which it is adjacent. It can affect a person's ability to lift, pull, and push weighty objects. In some serious cases, the ability to perform activities of daily living such as changing one's clothes and washing one's hair may be hindered. The name of this condition comes from its appearance, a wing-like resemblance, due to the medial border of the scapula sticking straight out from the back. Scapular winging has been observed to disrupt scapulohumeral rhythm, contributing to decreased flexion and abduction of the upper extremity, as well as a loss in power and the source of considerable pain. A winged scapula is considered normal posture in young children, but not older children and adults. Signs and symptoms The severity ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Back
The human back, also called the dorsum, is the large posterior area of the human body, rising from the top of the buttocks to the back of the neck. It is the surface of the body opposite from the chest and the abdomen. The vertebral column runs the length of the back and creates a central area of recession. The breadth of the back is created by the shoulders at the top and the pelvis at the bottom. Back pain is a common medical condition, generally benign in origin. Structure The central feature of the human back is the vertebral column, specifically the length from the top of the thoracic vertebrae to the bottom of the lumbar vertebrae, which houses the spinal cord in its spinal canal, and which generally has some curvature that gives shape to the back. The ribcage extends from the spine at the top of the back (with the top of the ribcage corresponding to the T1 vertebra), more than halfway down the length of the back, leaving an area with less protection between the bottom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
_(14582377398).jpg "Click for more on -> Dominant Gene")
