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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 d ... [...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 tumor i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. 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 , although some individuals with dwarfism are slightly taller. ''Disproportionate dwarfism'' is characterized by either 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 have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child dependent upon the underlying condition. The most common and recognisable 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. Treatment depends on the underlying cause. Those w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteogenesis Imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing ( dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination. The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen. In more than 90% of cases, OI occurs due to mutations in the ''COL1A1'' or ''COL1A2'' genes. These mutations may be inherited ... [...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 (human), hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney. In one of the modern histopathology, 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 tumor, benign, precancerous condition, precancerous, and cancerous forms. Various other dysplasias tend to be precancerous. The word's meanings thus cover a spectrum of histopathological variations. Microscopic sca ... [...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 connect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoarthritis
Osteoarthritis (OA) is a type of degenerative joint disease that results from breakdown of joint cartilage and underlying bone which affects 1 in 7 adults in the United States. It is believed to be the fourth leading cause of disability in the world. The most common symptoms are joint pain and stiffness. Usually the symptoms progress slowly over years. Initially they may occur only after exercise but can become constant over time. Other symptoms may include joint swelling, decreased range of motion, and, when the back is affected, weakness or numbness of the arms and legs. The most commonly involved joints are the two near the ends of the fingers and the joint at the base of the thumbs; the knee and hip joints; and the joints of the neck and lower back. Joints on one side of the body are often more affected than those on the other. The symptoms can interfere with work and normal daily activities. Unlike some other types of arthritis, only the joints, not internal organs, are af ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-ray
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30 petahertz to 30 exahertz ( to ) and energies in the range 145 eV to 124 keV. X-ray wavelengths are shorter than those of UV rays and typically longer than those of gamma rays. In many languages, X-radiation is referred to as Röntgen radiation, after the German scientist Wilhelm Conrad Röntgen, who discovered it on November 8, 1895. He named it ''X-radiation'' to signify an unknown type of radiation.Novelline, Robert (1997). ''Squire's Fundamentals of Radiology''. Harvard University Press. 5th edition. . Spellings of ''X-ray(s)'' in English include the variants ''x-ray(s)'', ''xray(s)'', and ''X ray(s)''. The most familiar use of X-rays is checking for fractures (broken bones), but X-rays are also used in other ways. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphangioma
Lymphangiomas are malformations of the lymphatic system characterized by lesions that are thin-walled cysts; these cysts can be macroscopic, as in a cystic hygroma, or microscopic. The lymphatic system is the network of vessels responsible for returning to the venous system excess fluid from tissues as well as the lymph nodes that filter this fluid for signs of pathogens. These malformations can occur at any age and may involve any part of the body, but 90% occur in children less than 2 years of age and involve the head and neck. These malformations are either congenital or acquired. Congenital lymphangiomas are often associated with chromosomal abnormalities such as Turner syndrome, although they can also exist in isolation. Lymphangiomas are commonly diagnosed before birth using fetal ultrasonography. Acquired lymphangiomas may result from trauma, inflammation, or lymphatic obstruction. Most lymphangiomas are benign lesions that result only in a soft, slow-growing, "doughy" m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemangioma
A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form, seen in infants, is an infantile hemangioma, known colloquially as a "strawberry mark", most commonly presenting on the skin at birth or in the first weeks of life. A hemangioma can occur anywhere on the body, but most commonly appears on the face, scalp, chest or back. They tend to grow for up to a year before gradually shrinking as the child gets older. A hemangioma may need to be treated if it interferes with vision or breathing or is likely to cause long-term disfigurement. In rare cases internal hemangiomas can cause or contribute to other medical problems. Most of the time they tend to disappear in 10 years. The first line treatment option is beta blockers, which are highly effective in the majority of cases. Ones that form at birth are called congenital hemangiomas while ones that form later in life are called infantile hemangiomas. Types Hema ... [...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 differences bet ... [...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 called si ... [...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 slip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
