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Metaphyseal Dysplasia
Metaphyseal dysplasia, or Pyle disease, is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (Metaphysis, metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (Trabecula, trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals. Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Bone And Joint Surgery
''The Journal of Bone and Joint Surgery'' is a biweekly peer reviewed medical journal in the field of orthopedic surgery. It is published by the non-profit corporation The Journal of Bone and Joint Surgery, Inc. It was established as the ''Transactions of the American Orthopedic Association'' in 1889, published by the American Orthopedic Association. In 1903, volume 16 of the ''Transactions'' became the first volume of the ''American Journal of Orthopedic Surgery'', which was renamed ''Journal of Orthopaedic Surgery'' in 1919 and also became the official journal of the British Orthopaedic Association. The journal obtained its current name in 1921. As of 2016, it had a ''Journal Citation Reports'' impact factor of 4.8 and ranking of 10/197 (surgery), 2/76 (orthopedics). The journal became the organ of the newly founded American Academy of Orthopaedic Surgeons in 1933. A British volume was established in 1948, using the name under license from the American volume. In 1954, the Ame ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paranasal Sinuses
Paranasal sinuses are a group of four paired air-filled spaces that surround the nasal cavity. The maxillary sinuses are located under the eyes; the frontal sinuses are above the eyes; the ethmoidal sinuses are between the eyes and the sphenoidal sinuses are behind the eyes. The sinuses are named for the facial bones in which they are located. Structure Humans possess four pairs of paranasal sinuses, divided into subgroups that are named according to the bones within which the sinuses lie. They are all innervated by branches of the trigeminal nerve (CN V). * The maxillary sinuses, the largest of the paranasal sinuses, are under the eyes, in the maxillary bones (open in the back of the semilunar hiatus of the nose). They are innervated by the maxillary nerve (CN V2). * The frontal sinuses, superior to the eyes, in the frontal bone, which forms the hard part of the forehead. They are innervated by the ophthalmic nerve (CN V1). * The ethmoidal sinuses, which are form ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germline Mutation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation. Germline mutation is distinct from somatic mutation. Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. A mutation that arises only in germ cells can result in offspring with a genetic condition that is not present in either parent; this is because the mutation is not present in the rest of the parents' body, only the germline. When mutagenesi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoporosis
Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to bone fragility, and consequent increase in Bone fracture, fracture risk. It is the most common reason for a broken bone among the Old age, elderly. Bones that commonly break include the vertebrae in the Vertebral column, spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. After the broken bone heals, the person may have chronic pain and a decreased ability to carry out normal activities. Osteoporosis may be due to lower-than-normal peak bone mass, maximum bone mass and greater-than-normal bone loss. Bone loss increases postmenopause, after the menopause due to lower levels of estrogen, and after 'andropause' due to lower levels of testosterone. Osteoporosis may also occur due to a number of diseases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthopedic Surgery
Orthopedic surgery or orthopedics ( alternatively spelt orthopaedics), is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders. Etymology Nicholas Andry coined the word in French as ', derived from the Ancient Greek words ὀρθός ''orthos'' ("correct", "straight") and παιδίον ''paidion'' ("child"), and published ''Orthopedie'' (translated as ''Orthopædia: Or the Art of Correcting and Preventing Deformities in Children'') in 1741. The word was assimilated into English as ''orthopædics''; the ligature ''æ'' was common in that era for ''ae'' in Greek- and Latin-based words. As the name implies, the discipline was initially developed with attention to children, but the correction of spinal and bone deformities in all stages of life e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthodontics
Orthodontics is a dentistry specialty that addresses the diagnosis, prevention, management, and correction of mal-positioned teeth and jaws, and misaligned bite patterns. It may also address the modification of facial growth, known as dentofacial orthopedics. Abnormal alignment of the teeth and jaws is very common. Nearly 50% of the developed world's population, according to the American Association of Orthodontics, has malocclusions severe enough to benefit from orthodontic treatment: although this figure decreases to less than 10% according to the same AAO statement when referring to medically necessary orthodontics. However, conclusive scientific evidence for the health benefits of orthodontic treatment is lacking, although patients with completed orthodontic treatment have reported a higher quality of life than that of untreated patients undergoing orthodontic treatment. Treatment may require several months to a few years, and entails using dental braces and other appliances ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asymptomatic
In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered asymptomatic. Infections of this kind are usually called subclinical infections. Diseases such as mental illnesses or psychosomatic conditions are considered subclinical if they present some individual symptoms but not all those normally required for a clinical diagnosis. The term clinically silent is also found. Producing only a few, mild symptoms, disease is paucisymptomatic. Symptoms appearing later, after an asymptomatic incubation period, mean a pre-symptomatic period has existed. Importance Knowing that a condition is asymptomatic is important because: * It may develop symptoms later and only then require treatment. * It may resolve itself or become benign. * It may be contagious, and the contribution of asymptomatic and pre-sympto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiology
Radiology ( ) is the medical discipline that uses medical imaging to diagnose diseases and guide their treatment, within the bodies of humans and other animals. It began with radiography (which is why its name has a root referring to radiation), but today it includes all imaging modalities, including those that use no electromagnetic radiation (such as ultrasonography and magnetic resonance imaging), as well as others that do, such as computed tomography (CT), fluoroscopy, and nuclear medicine including positron emission tomography (PET). Interventional radiology is the performance of usually minimally invasive medical procedures with the guidance of imaging technologies such as those mentioned above. The modern practice of radiology involves several different healthcare professions working as a team. The radiologist is a medical doctor who has completed the appropriate post-graduate training and interprets medical images, communicates these findings to other physicians b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs. Signs and symptoms Signs and symptoms include: * Eating and breathing difficulties * Hypertelorism * Wide nasal bridge * Large lower jaw * Proptosis * Dolichocephaly * Delayed or absent teeth * Small nasal passage Long-term severe effects from untreated head and face pressure include cranial nerve paralysis, hearing loss/deafness, and blindness. Genetics The autosomal dominant form is caused by a mutation in ANKH on chromosome 5 (5p15.2-p14.1). The autosomal recessive form is caused by a mutation in a mutation in GJA1 Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the ''GJA1'' gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SFRP4
Secreted frizzled-related protein 4 is a protein that in humans is encoded by the ''SFRP4'' gene. Function Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. Biallelic, recessive variants in the ''SFRP4'' gene result in the genetic disorder of bone, Pyle disease, that is characterized by a failure of long bone remodeling with increased fragility. The association between SFRP4 deficiency and Pyle disease has highlighted the importance of SFRP4 in the formation of the bone cortex, and of the importance of bone cortex for the mechanical stability of long bone elements. SFRP4 is a hub gene in a Type 2 Diabetes-associated gene coexpression module in human islets, and reduces glucose-induced insulin secretio ... [...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 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. Mutation is the ultima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive - En
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
