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Osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). 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. Osteochondrodysplasias can result in marked functional limitation and even mortality. Osteochondrodysplasias 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. Early diagnosis, and timely management of skeletal dysplasia are important to combat functional deterioration. Types Achondroplasia ''Achondroplasia'' is a type of autosomal ... [...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 gender, which corresponds to the shortest 2.3% of individuals in that population. The median or typical adult height in developed countries is about for men and for women. Causes 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 constitutiona ... [...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] |
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 disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals. Types There is no designated classification or naming convention for lesions. Since lesions can occur anywhere in the body and the definition of a lesion is so broad, the varieties of lesions are virtually endless. Generally, lesions may be classified by their patterns, their sizes, their locations, or their 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. Location Lesions are often classified by their tissue types or locations. For example, a "skin lesion" or a " ... [...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, when it may be called a 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, 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 is from Ancient Greek 'new' and 'formation, creation'. Types A neoplasm can be benign, potenti ... [...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 compact bone), the medullary cavity has walls composed of spongy bone (cancellous bone) and is lined with a thin, vascular membrane (endosteum). However, the medullary cavity is the area inside any bone (long, flat, etc.) that holds the bone marrow. 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 ... [...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 chromosome. The breaks can be induced by heat, viruses, radiations, chemicals. When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as 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 template DNA strand slipp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally 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 happens, each chromosome is duplicated (S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysplasia
Dysplasia is any of various types of abnormal growth or development of cells ( microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney. In one of the modern histopathological senses of the term, dysplasia is sometimes differentiated from other categories of tissue change including hyperplasia, metaplasia, and neoplasia, and dysplasias are thus generally not cancerous. An exception is that the myelodysplasias include a range of benign, precancerous, and cancerous forms. Various other dysplasias tend to be precancerous. The word's meanings thus cover a spectrum of histopathological variations. Microscopic scale Epithelial dysplasia Epithelial dysplasia consists of an exp ... [...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" + ''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 forehead conne ... [...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 density around age 21. The human skeleton can be divided into the axial skeleton and the appendicular skeleton. The axial skeleton is formed by the vertebral column, the rib cage, the 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 as that of many other primate species, but subtle difference ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enchondroma
Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors. There may be no symptoms, or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture. Diagnosis is by X-ray, CT scan and sometimes MRI. Most occur as a less than three centimetre size single tumor. When several occur in one long bone or several bones, the syndrome is called enchondromatosis. Where there are no symptoms, treatment is often not needed. If treatment is required, curettage may be performed. Less than 1% become malignant, unless part of a syndrome. They comprise around 30% of cartilage tumors. 90% of tumors in the hand are enchondromas. Symptoms and signs Individuals with an enchondroma often have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each individual may experience symptoms differently. Symptoms may include: * Pain that may occur at the site of the tumor if the t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
