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Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared. Muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Most skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15–30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye. FSHD is caused by a genetic mutation leading to deregulation of the '' DUX4'' gene. Normally, ''DUX4'' is expressed (i.e., turned on) only in selec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scapula
The scapula (: scapulae or scapulas), also known as the shoulder blade, is the bone that connects the humerus (upper arm bone) with the clavicle (collar bone). Like their connected bones, the scapulae are paired, with each scapula on either side of the body being roughly a mirror image of the other. The name derives from the Classical Latin word for trowel or small shovel, which it was thought to resemble. In compound terms, the prefix omo- is used for the shoulder blade in medical terminology. This prefix is derived from ὦμος (ōmos), the Ancient Greek word for shoulder, and is cognate with the Latin , which in Latin signifies either the shoulder or the upper arm bone. The scapula forms the back of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. Structure The scapula is a thick, flat bone lying on the thoracic wall that provides an attachment for three groups of muscles: intrinsic, e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DUX4
Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the ''DUX4'' gene. Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD). Gene This gene is located within a D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4q35. The D4Z4 repeat array contains 11-150 D4Z4 repeats in the general population; a highly homologous D4Z4 repeat array has been identified on chromosome 10. The gene consists of three exons. Exons 1 and 2 are present in each D4Z4 repeat. Only one copy of exon 3 is present, telomeric to the D4Z4 repeat array. The open reading frame (ORF) is entirely contained within exon 1 and contains two homeoboxes. Exons 2 and 3 encode for the three prime untranslated region (3′-UTR). In certain haplotypes, exon 3 contains a polyadenylation signal. There was no evidence for transcription from the standard cDNA libraries however RT-PCR and in-vitro expression experiments indicate that the ORF is transc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Loss
Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Hearing loss may be caused by a number of factors, including: genetics, ageing, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cytomegalovirus, syphilis and rubella, may also cause hearing loss in the child. Hearing loss is diagnosed when hearing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Foot Drop
Foot drop is a gait abnormality in which the dropping of the forefoot happens out of weakness, irritation or damage to the deep fibular nerve (deep peroneal), including the sciatic nerve, or paralysis of the muscles in the anterior portion of the lower leg. It is usually a symptom of a greater problem, not a disease in itself. Foot drop is characterized by inability or impaired ability to raise the toes or raise the foot from the ankle (dorsiflexion). Foot drop may be temporary or permanent, depending on the extent of muscle weakness or paralysis, and it can occur in one or both feet. In walking, the raised leg is slightly bent at the knee to prevent the foot from dragging along the ground. Foot drop can be caused by nerve damage alone or by muscle or spinal cord trauma, abnormal anatomy, toxins, or disease. Toxins include organophosphate compounds which have been used as pesticides and as chemical agents in warfare. The poison can lead to further damage to the body such as a neu ... [...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 severi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal Muscle
Skeletal muscle (commonly referred to as muscle) is one of the three types of vertebrate muscle tissue, the others being cardiac muscle and smooth muscle. They are part of the somatic nervous system, voluntary muscular system and typically are attached by tendons to bones of a skeleton. The skeletal muscle cells are much longer than in the other types of muscle tissue, and are also known as ''muscle fibers''. The tissue of a skeletal muscle is striated muscle tissue, striated – having a striped appearance due to the arrangement of the sarcomeres. A skeletal muscle contains multiple muscle fascicle, fascicles – bundles of muscle fibers. Each individual fiber and each muscle is surrounded by a type of connective tissue layer of fascia. Muscle fibers are formed from the cell fusion, fusion of developmental myoblasts in a process known as myogenesis resulting in long multinucleated cells. In these cells, the cell nucleus, nuclei, termed ''myonuclei'', are located along the inside ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Skeletal Muscles Of The Human Body
This is a table of skeletal muscles of the human anatomy, with muscle counts and other information. Table Table explanation and summary The muscles are described using anatomical terminology. The columns are as follows: For Origin, Insertion and Action please name a specific Rib, Thoracic vertebrae or Cervical vertebrae, by using C1-7, T1-12 or R1-12. Summary in numbers There does not appear to be a definitive source counting all skeletal muscles. Different sources group muscles differently, regarding physical features as different parts of a single muscle or as several muscles. There are also vestigial muscles that are present in some people but absent in others, such as the palmaris longus muscle. There are between 600 and 840 muscles within the typical human body, depending on how they are counted. In the present table, using statistical counts of the instances of each muscle, and ignoring gender-specific muscles, there are 753 skeletal muscles. Sometimes mal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
