|
Osteochondrodysplasia
An osteochondrodysplasia,Etymology: . or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality. Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. As some disorders that cause skeletal dysplasia have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short Stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ''short''. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population. Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional growth delay or familial short stature. From a medical perspective, severe shortness can be a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities. Pseudoachondroplasia (also known as PSACH, pseudoachondroplastic dysplasia, and pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) is an osteochondrodysplasia that results in mild to severely short stature due to the inhibition of skeletal growth primarily in the limbs. Though similarities in nomenclature may cause confusion, pseudoachondroplasia should not be confused with achondroplasia, which is a clinically and genetically distinct skeletal dysplasia. Pseudoachondroplasia is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP). Mutation in the COMP gene can also cause multiple epi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . ''Disproportionate dwarfism'' is characterized by either Rhizomelia, short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most people with it have a nearly normal life expectancy. People with dwarfism can usually bear children, although there are additional Pregnancy risks, risks to the mother and child depending upon the underlying condition. The most common and recognizable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common causes. Treatment of the condition depends on the u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities. Pseudoachondroplasia (also known as PSACH, pseudoachondroplastic dysplasia, and pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) is an osteochondrodysplasia that results in mild to severely short stature due to the inhibition of skeletal growth primarily in the limbs. Though similarities in nomenclature may cause confusion, pseudoachondroplasia should not be confused with achondroplasia, which is a clinically and genetically distinct skeletal dysplasia. Pseudoachondroplasia is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP). Mutation in the COMP gene can also cause multiple epi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lesion
A lesion is any damage or abnormal change in the tissue of an organism, usually caused by injury or diseases. The term ''Lesion'' is derived from the Latin meaning "injury". Lesions may occur in both plants and animals. Types There is no designated classification or naming convention for lesions. Because lesions can occur anywhere in the body and their definition is so broad, the varieties of lesions are virtually endless. Generally, lesions may be classified by their patterns, sizes, locations, or causes. They can also be named after the person who discovered them. For example, Ghon lesions, which are found in the lungs of those with tuberculosis, are named after the lesion's discoverer, Anton Ghon. The characteristic skin lesions of a varicella zoster virus infection are called '' chickenpox''. Lesions of the teeth are usually called dental caries, or "cavities". Location Lesions are often classified by their tissue types or locations. For example, "skin lesions" or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumor
A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists in growing abnormally, even if the original trigger is removed. This abnormal growth usually forms a mass, which may be called a tumour or tumor.'' ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of uncertain or unknown behavior. Malignant neoplasms are also simply known as cancers and are the focus of oncology. Prior to the abnormal growth of tissue, such as neoplasia, cells often undergo an abnormal pattern of growth, such as metaplasia or dysplasia. However, metaplasia or dysplasia does not always progress to neoplasia and can occur in other conditions as well. The word neoplasm is from Ancient Greek 'new' and 'formation, creation'. Types A neopla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medullary Bone
The medullary cavity (''medulla'', innermost part) is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored; hence, the medullary cavity is also known as the marrow cavity. Located in the main shaft of a long bone (diaphysis) (consisting mostly of Bone#Cancellous_bone, spongy bone), the medullary cavity has walls composed of Bone#Cortical_bone, compact bone (cancellous bone) and is lined with a thin, vascular membrane (endosteum). This area is involved in the formation of red blood cells and white blood cells, and the calcium supply for bird eggshells. The area has been detected in fossil bones despite the fossilization process. Intramedullary is a medical term meaning the inside of a bone. Examples include intramedullary rods used to treat bone fractures in orthopedic surgery and intramedullary tumors occurring in some forms of cancer or benign tumors such as an enchondroma. References External links * Skelet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Deletion
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by temp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated ( S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the jo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Etymology
Etymology ( ) is the study of the origin and evolution of words—including their constituent units of sound and meaning—across time. In the 21st century a subfield within linguistics, etymology has become a more rigorously scientific study. Most directly tied to historical linguistics, philology, and semiotics, it additionally draws upon comparative semantics, morphology, pragmatics, and phonetics in order to attempt a comprehensive and chronological catalogue of all meanings and changes that a word (and its related parts) carries throughout its history. The origin of any particular word is also known as its ''etymology''. For languages with a long written history, etymologists make use of texts, particularly texts about the language itself, to gather knowledge about how words were used during earlier periods, how they developed in meaning and form, or when and how they entered the language. Etymologists also apply the methods of comparative linguistics to reconstruct in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Forehead
In human anatomy, the forehead is an area of the head bounded by three features, two of the skull and one of the scalp. The top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows. The bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes. The two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond. However, the eyebrows do not form part of the forehead. In '' Terminologia Anatomica'', ''sinciput'' is given as the Latin equivalent to "forehead" (etymology of ''sinciput'': from ''semi-'' "half" and ''caput'' "head".). Structure The bone of the forehead is the squamous part of the frontal bone. The overlying muscles are the occipitofrontalis, procerus, and corrugator supercilii muscles, all of which are controlled by the temporal branch of the facial nerve. The sensory nerves of the forehea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Skeleton
The human skeleton is the internal framework of the human body. It is composed of around 270 bones at birth – this total decreases to around 206 bones by adulthood after some bones get fused together. The bone mass in the skeleton makes up about 14% of the total body weight (ca. 10–11 kg for an average person) and reaches maximum mass between the ages of 25 and 30. The human skeleton can be divided into the axial skeleton and the appendicular skeleton. The axial skeleton is formed by the human vertebral column, vertebral column, the human rib cage, rib cage, the human skull, skull and other associated bones. The appendicular skeleton, which is attached to the axial skeleton, is formed by the shoulder girdle, the pelvic girdle and the bones of the upper and lower limbs. The human skeleton performs six major functions: support, movement, protection, production of blood cells, storage of minerals, and endocrine regulation. The human skeleton is not as sexually dimorphic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
