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Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treament may also be needed. In order to utilize the girls' eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named after th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruxism
Bruxism is excessive teeth grinding or jaw clenching. It is an oral parafunctional activity; i.e., it is unrelated to normal function such as eating or talking. Bruxism is a common behavior; reports of prevalence range from 8% to 31% in the general population. Several symptoms are commonly associated with bruxism, including aching jaw muscles, headaches, hypersensitive teeth, tooth wear, and damage to dental restorations (e.g. crowns and fillings). Symptoms may be minimal, without patient awareness of the condition. If nothing is done, after a while many teeth start wearing down until the whole tooth is gone. There are two main types of bruxism: one occurs during sleep (nocturnal bruxism) and one during wakefulness (awake bruxism). Dental damage may be similar in both types, but the symptoms of sleep bruxism tend to be worse on waking and improve during the course of the day, and the symptoms of awake bruxism may not be present at all on waking, and then worsen over the day. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutations
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 ultimate so ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gyration Abnormality
In geometry, a gyration is a rotation in a discrete subgroup of symmetries of the Euclidean plane such that the subgroup does not also contain a reflection symmetry whose axis passes through the center of rotational symmetry. In the orbifold corresponding to the subgroup, a gyration corresponds to a rotation point that does not lie on a mirror A mirror or looking glass is an object that reflects an image. Light that bounces off a mirror will show an image of whatever is in front of it, when focused through the lens of the eye or a camera. Mirrors reverse the direction of the im ..., called a gyration point. For example, having a sphere rotating about any point that is ''not'' the center of the sphere, the sphere is gyrating. If it was rotating about its center, the rotation would be symmetrical and it would not be considered gyration. References Euclidean geometry {{geometry-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heterotopia (medicine)
In medicine, heterotopia is the presence of a particular tissue type at a non-physiological site, but usually co-existing with original tissue in its correct anatomical location. In other words, it implies ectopic tissue, in addition to retention of the original tissue type. Examples In neuropathology, for example, gray matter heterotopia is the presence of gray matter within the cerebral white matter or ventricles. Heterotopia within the brain is often divided into three groups: subependymal heterotopia, focal cortical heterotopia and band heterotopia. Another example is a Meckel's diverticulum, which may contain heterotopic gastric or pancreatic tissue. In biology specifically, ''heterotopy'' refers to an altered location of trait expression.West-Eberhard, 2003 In her book ''Developmental Plasticity and Evolution'', Mary-Jane West Eberhard has a cover art of the sulphur crested cockatoo and comments on the back cover "Did long crest eadfeathers evolve by gradual modifica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipoma
A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations include upper back, shoulders, and abdomen. It is possible to have a number of lipomas. The cause is generally unclear. Risk factors include family history, obesity, and lack of exercise. Diagnosis is typically based on a physical exam. Occasionally medical imaging or tissue biopsy is used to confirm the diagnosis. Treatment is typically by observation or surgical removal. Rarely, the condition may recur following removal, but this can generally be managed with repeat surgery. They are not generally associated with a future risk of cancer. Lipomas have a prevalence of roughly 2 out of every 100 people. Lipomas typically occur in adults between 40 and 60 years of age. Males are more often affected than females. They are the most common noncancerous so ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scalp
The scalp is the anatomical area bordered by the human face at the front, and by the neck at the sides and back. Structure The scalp is usually described as having five layers, which can conveniently be remembered as a mnemonic: * S: The skin on the head from which head hair grows. It contains numerous sebaceous glands and hair follicles. * C: Connective tissue. A dense subcutaneous layer of fat and fibrous tissue that lies beneath the skin, containing the nerves and vessels of the scalp. * A: The aponeurosis called epicranial aponeurosis (or galea aponeurotica) is the next layer. It is a tough layer of dense fibrous tissue which runs from the frontalis muscle anteriorly to the occipitalis posteriorly. * L: The loose areolar connective tissue layer provides an easy plane of separation between the upper three layers and the pericranium. In scalping the scalp is torn off through this layer. It also provides a plane of access in craniofacial surgery and neurosurgery. This la ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Angiosarcoma
Angiosarcoma is a rare and aggressive cancer that starts in the endothelial cells that line the walls of blood vessels or lymphatic vessels. Since they are made from vascular lining, they can appear anywhere and at any age, but older people are more commonly affected, and the skin is the most affected area, with approximately 60% of cases being cutaneous. Specifically, the scalp makes up ~50% of angiosarcoma cases, but this is still <0.1% of all head and neck tumors. Since angiosarcoma is an for many types of tumor that vary greatly in origin and location, many symptoms may occur, from completely asymptomatic to non-specific symptoms like |
Hepatoblastoma
Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. They usually present with an abdominal mass. The disease is most commonly diagnosed during a child's first three years of life. Alpha-fetoprotein (AFP) levels are commonly elevated, but when AFP is not elevated at diagnosis the prognosis is poor. Signs and symptoms Patients are usually asymptomatic at diagnosis. As a result, disease is often advanced at diagnosis. Pathophysiology Hepatoblastomas originate from immature liver precursor cells, are typically unifocal, affect the right lobe of the liver more often than the left lobe, and can metastasize. They are categorized into two types: "Epithelial Type" and "Mixed Epithelial / Mesenchymal Type." Individuals with familial adenomatous polyposis (FAP), a syndrome of early-onset colonic polyps and adenocarcinoma, frequently develop hepatoblastomas. Also, beta-c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratoma
A teratoma is a tumor made up of several different types of tissue, such as hair, muscle, teeth, or bone. Teratomata typically form in the ovary, testicle, or coccyx. Symptoms Symptoms may be minimal if the tumor is small. A testicular teratoma may present as a painless lump. Complications may include ovarian torsion, testicular torsion, or hydrops fetalis. They are a type of germ cell tumor (a tumor that begins in the cells that give rise to sperm or eggs). They are divided into two types: mature and immature. Mature teratomas include dermoid cysts and are generally benign. Immature teratomas may be cancerous. Most ovarian teratomas are mature. In adults, testicular teratomas are generally cancerous. Definitive diagnosis is based on a tissue biopsy. Treatment of coccyx, testicular, and ovarian teratomas is generally by surgery. Testicular and immature ovarian teratomas are also frequently treated with chemotherapy. Teratomas occur in the coccyx in about one in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Soft Palate
The soft palate (also known as the velum, palatal velum, or muscular palate) is, in mammals, the soft tissue constituting the back of the roof of the mouth. The soft palate is part of the palate of the mouth; the other part is the hard palate. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone. Structure Muscles The five muscles of the soft palate play important roles in swallowing and breathing. The muscles are: # Tensor veli palatini, which is involved in swallowing # Palatoglossus, involved in swallowing # Palatopharyngeus, involved in breathing # Levator veli palatini, involved in swallowing # Musculus uvulae, which moves the uvula These muscles are innervated by the pharyngeal plexus via the vagus nerve, with the exception of the tensor veli palatini. The tensor veli palatini is innervated by the mandibular division of the trigeminal nerve (V3). Function The soft palate is moveable, consisting of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rectal Polyps
A colorectal polyp is a polyp (fleshy growth) occurring on the lining of the colon or rectum. Untreated colorectal polyps can develop into colorectal cancer. Colorectal polyps are often classified by their behaviour (i.e. benign vs. malignant) or cause (e.g. as a consequence of inflammatory bowel disease). They may be benign (e.g. hyperplastic polyp), pre-malignant (e.g. tubular adenoma) or malignant (e.g. colorectal adenocarcinoma). Signs and symptoms Colorectal polyps are not usually associated with symptoms. When they occur, symptoms include bloody stools; changes in frequency or consistency of stools (such as a week or more of constipation or diarrhoea); and fatigue arising from blood loss. Anemia arising from iron deficiency can also present due to chronic blood loss, even in the absence of bloody stools. Another symptom may be an increased mucus production especially those involving villous adenomas. Copious production of mucous causes loss of potassium that can occ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
