|
Erondu–Cymet Syndrome
Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome. The genetic karyotype for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include hypotension, hypoxemia, seizures, and impairment of cognitive ability. Patients with this condition may have persistent left superior vena cava that drains into the left atrium, as well as pulmonary arteriovenous malformations. Erondu–Cymet syndrome was discovered in 2006 by Ugochi Erondu and Tyler Cymet. See also * Trisomy 21 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that repro ... References Genetic disorders with no OMIM Syndromes {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes "balanced" and "unbalanced" translocation, with three main types: "reciprocal", "nonreciprocal" and "Robertsonian" translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. Each type of chromosomal translocation can result in disorders for growth, function and the development of an individuals body, often resulting from a change in their genome. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be bala ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 21 (human)
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 46.7 million base pairs (the building material of DNA) representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 (trisomy 21) have Down syndrome. Researchers working on the Human Genome Project announced in May 2000 that they had determined the sequence of base pairs that make up this chromosome. Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. Genes Number of genes The following are some of the gene count estimates of human chromosome 21. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotension
Hypotension, also known as low blood pressure, is a cardiovascular condition characterized by abnormally reduced blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood and is indicated by two numbers, the systolic blood pressure (the top number) and the diastolic blood pressure (the bottom number), which are the maximum and minimum blood pressures within the cardiac cycle, respectively. A systolic blood pressure of less than 90 millimeters of mercury (mmHg) or diastolic of less than 60 mmHg is generally considered to be hypotension. Different numbers apply to children. However, in practice, blood pressure is considered too low only if noticeable symptoms are present. Symptoms may include dizziness, lightheadedness, confusion, feeling tired, weakness, headache, blurred vision, nausea, neck or back pain, an irregular heartbeat or feeling that the heart is skipping beats or fluttering, sweating, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoxemia
Hypoxemia (also spelled hypoxaemia) is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia is usually caused by pulmonary disease. Sometimes the concentration of oxygen in the air is decreased leading to hypoxemia. Definition ''Hypoxemia'' refers to the low level of oxygen in arterial blood. Tissue hypoxia refers to low levels of oxygen in the tissues of the body and the term ''hypoxia'' is a general term for low levels of oxygen. Hypoxemia is usually caused by pulmonary disease whereas tissue oxygenation requires additionally adequate circulation of blood and perfusion of tissue to meet metabolic demands. Hypoxemia is usually defined in terms of reduced partial pressure of oxygen (mm Hg) in arterial blood, but also in terms of reduced content of oxygen (ml oxygen per dl blood) or percentage saturation of hemoglobin (the oxygen-binding protein within red blood cells) with oxygen, which is either found singly o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cognition
Cognition is the "mental action or process of acquiring knowledge and understanding through thought, experience, and the senses". It encompasses all aspects of intellectual functions and processes such as: perception, attention, thought, imagination, intelligence, the formation of knowledge, memory and working memory, judgment and evaluation, reasoning and computation, problem-solving and decision-making, comprehension and production of language. Cognitive processes use existing knowledge to discover new knowledge. Cognitive processes are analyzed from very different perspectives within different contexts, notably in the fields of linguistics, musicology, anesthesia, neuroscience, psychiatry, psychology, education, philosophy, anthropology, biology, systemics, logic, and computer science. These and other approaches to the analysis of cognition (such as embodied cognition) are synthesized in the developing field of cognitive science, a progressively autonomou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Superior Vena Cava
The superior vena cava (SVC) is the superior of the two venae cavae, the great venous trunks that return deoxygenated blood from the systemic circulation to the right atrium of the heart. It is a large-diameter (24 mm) short length vein that receives venous return from the upper half of the body, above the diaphragm. Venous return from the lower half, below the diaphragm, flows through the inferior vena cava. The SVC is located in the anterior right superior mediastinum. It is the typical site of central venous access via a central venous catheter or a peripherally inserted central catheter. Mentions of "the cava" without further specification usually refer to the SVC. Structure The superior vena cava is formed by the left and right brachiocephalic veins, which receive blood from the upper limbs, head and neck, behind the lower border of the first right costal cartilage. It passes vertically downwards behind the first intercostal space and receives the azygos vei ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Left Atrium
The atrium (; : atria) is one of the two upper chambers in the heart that receives blood from the circulatory system. The blood in the atria is pumped into the heart ventricles through the atrioventricular mitral and tricuspid heart valves. There are two atria in the human heart – the left atrium receives blood from the pulmonary circulation, and the right atrium receives blood from the venae cavae of the systemic circulation. During the cardiac cycle, the atria receive blood while relaxed in diastole, then contract in systole to move blood to the ventricles. Each atrium is roughly cube-shaped except for an ear-shaped projection called an atrial appendage, previously known as an auricle. All animals with a closed circulatory system have at least one atrium. The atrium was formerly called the 'auricle'. That term is still used to describe this chamber in some other animals, such as the ''Mollusca''. Auricles in this modern terminology are distinguished by having thicker mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arteriovenous Malformations
An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system. Usually congenital, this vascular anomaly is widely known because of its occurrence in the central nervous system (usually as a cerebral AVM), but can appear anywhere in the body. The symptoms of AVMs can range from none at all to intense pain or bleeding, and they can lead to other serious medical problems. Signs and symptoms Symptoms of AVMs vary according to their location. Most neurological AVMs produce few to no symptoms. Often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (an " incidental finding"); in rare cases, its expansion or a micro-bleed from an AVM in the brain can cause epilepsy, neurological deficit, or pain. The most general symptoms of a cerebral AVM include headaches and epileptic seizures, with more specific symptoms that normally depend on its location and the individual, in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tyler Cymet
Tyler C. Cymet (born 1963 Smithtown, New York) is a physician in Baltimore, Maryland. Cymet attended Emory University for his premedical undergraduate degree and majored in psychology and anthropology. He then attended medical school at Nova Southeastern University College of Osteopathic Medicine to acquire his medical degree, served as an intern at the Midwestern University Graduate Medical Education system, performed a Primary Care Internal Medicine residency at Yale University, and did additional training at Sinai Hospital of Baltimore. Research and publications Cymet has done extensive research in musculoskeletal medicine focusing on fibromyalgia, and the structure of the musculoskeletal system and how it affects function. He proposed an explanation for the articular crack (knuckle, neck and other joint sounds) that has caused debate in the medical community. Cymet's research has shown a potential protective joint effect from joint cracking. He is the author of the ''Ad D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy 21
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one of each type of chromosome inherited from each parent. In such organisms, meiosis creates gamete cells (eggs or sperm) having only one set of chromosomes. The number of chromosomes is different for different species, with humans having 46 chromosomes (23 pairs) and human gametes 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes ( non-disjunction). If such a gamete is fertilized with a normal gamete, the resulting embryo may have a total of three copies of the chromosome. Terminology The number of chromosomes in the cell where trisomy occurs is represented as, for exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
