Osteopoikilosis
Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton. Presentation The radiographic appearance of osteopoikilosis on an X-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger. The distribution is variable, though it does not tend to affect the ribs, spine, or skull. Cause Epidemiology Men and women are affected in equal number, reflecting the fact that osteopoikilosis attacks indiscriminately. Ad ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
LEMD3
LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the ''LEMD3'' gene and was first identified after it was isolated from the serum of a patient with a collagen vascular disease. Structure The protein is 82.3 kDa and has a 40 amino acid long LEM domain located at its amino-terminal region. In its carboxyl end it has a RNA recognition motif (RRM). The LEM domain is also common to two other integral proteins of the INM: lamina-associated polypeptide 2 (LAP2) and emerin. The LEM segment enables LEMD3 to attach to the barrier-to-autointegration factor (BAF), and therefore, indirectly interact with the chromatin. LEMD3 also has several implications in regulating the cytokine family such as the transforming growth factor beta (TGF-β) and bone morphogenic protein (BMPs). The RRM domain in its carboxylic region attaches to the SMAD (protein) proteins, which is involved in medi ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Melorheostosis
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones. Pain is a frequent symptom and the bone can have the appearance of dripping candle wax. Cause A randomly occurring somatic mutation of the MAP2K1 gene during fetal development is believed to be the cause. It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of osteopoikilosis or Buschke–Ollendorff syndrome. Diagnosis Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax." It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. The disorder tends to be unilateral and monostot ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Benign
Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity, containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to Epigenetics#DNA repair epigenetics in cancer, epigenetic methylation of DNA repair genes or altered MicroRNA#DNA repair and cancer, micr ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Autosomal Dominant
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]   |
|
Sclerosis (medicine)
Sclerosis (from Greek σκληρός ''sklērós'', "hard") is the stiffening of a tissue or anatomical feature, usually caused by a replacement of the normal organ-specific tissue with connective tissue. The structure may be said to have undergone sclerotic changes or display sclerotic lesions, which refers to the process of sclerosis. Common medical conditions whose pathology involves sclerosis include: * Amyotrophic lateral sclerosis—also known as Lou Gehrig's disease or motor neurone disease—a progressive, incurable, usually fatal disease of motor neurons. * Atherosclerosis, a deposit of fatty materials, such as cholesterol, in the arteries which causes hardening. * Focal segmental glomerulosclerosis is a disease that attacks the kidney's filtering system (glomeruli) causing serious scarring and thus a cause of nephrotic syndrome in children and adolescents, as well as an important cause of kidney failure in adults. * Hippocampal sclerosis, a brain damage often seen in ... [...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]   |
|
Bone Island
Bone Island ( ta, எலும்புத்தீவு / போன் தீவு) is a tiny island as part of Batticaloa Lagoon among other small islands of Sri Lanka It has no causeway connection to the mainland, it is connected by boat. It uses as resting place by local fishermen, and it has significant attraction of local tourists. J. A. Bone, Asst. Government Agent (1833–1837), built a small bungalow in the island. Later, the island called by his name. Picture Gallery File:Bone Island, Batticaloa in Bird's-eye view.jpg, Bone Island in Bird's-eye view File:Bone Island, Batticaloa - Far view.jpg, Bird's-eye view – Bone Island in distance See also *List of islands of Sri Lanka This is a list of islands of Sri Lanka. There are number of islands around Sri Lanka. The most prominent islets are west of the Jaffna Peninsula in the Northern Province. These group of islands also had Dutch names during the Dutch colon ... References {{Reflist *''The inform ... [...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]   |
|
Blastic Metastasis
In cell biology, a precursor cell, also called a blast cell or simply blast, is a partially differentiated cell, usually referred to as a unipotent cell that has lost most of its stem cell properties. A precursor cell is also known as a progenitor cell but progenitor cells are multipotent. Precursor cells are known as the intermediate cell before they become differentiated after being a stem cell. Usually, a precursor cell is a stem cell with the capacity to differentiate into only one cell type. Sometimes, ''precursor cell'' is used as an alternative term for unipotent stem cells. In embryology, precursor cells are a group of cells that later differentiate into one organ. A blastoma is any cancer created by malignancies of precursor cells. Precursor cells, and progenitor cells, have many potential uses in medicine. , there is research being done to use these cells to build heart valves, blood vessels and other tissues, by using blood and muscle precursor, or progenitor cel ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Buschke–Ollendorff Syndrome
Buschke–Ollendorff syndrome (BOS) is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner. It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in a 45-year-old woman. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. Signs and symptoms The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss): :::::::*Osteopoikilosis :::::::*Bone pain :::::::* Connective tissue nevi :::::::*Metaphysis abnormality Pathogenesis Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12. Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are: :::::::::* LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane. :::::::::* LEMD3 gene g ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
Bone Scan
A bone scan or bone scintigraphy is a nuclear medicine imaging technique of the bone. It can help diagnose a number of bone conditions, including cancer of the bone or metastasis, location of bone inflammation and fractures (that may not be visible in traditional X-ray images), and bone infection (osteomyelitis). Nuclear medicine provides functional imaging and allows visualisation of bone metabolism or bone remodeling, which most other imaging techniques (such as X-ray computed tomography, CT) cannot. Bone scintigraphy competes with positron emission tomography (PET) for imaging of abnormal metabolism in bones, but is considerably less expensive. Bone scintigraphy has higher sensitivity but lower specificity than CT or MRI for diagnosis of scaphoid fractures following negative plain radiography. History Some of the earliest investigations into skeletal metabolism were carried out by George de Hevesy in the 1930s, using phosphorus-32 and by Charles Pecher in the 1940s. In t ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
|
List Of Radiographic Findings Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expressed in the human integumentary system * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus References * * {{DEFAULTSORT:Radiographic findings associated with cuta ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |