Dandy–Walker Malformation
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Dandy–Walker Malformation
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to mental health problems. DWM i ...
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T2-weighted
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. Physics of magnetic resonance imaging#MRI scanner, MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to generate images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from CT scan, CT and PET scans. MRI is a nuclear magnetic resonance#Medicine, medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other nuclear magnetic resonance#Applications, NMR applications, such as nuclear magnetic resonance spectroscopy, NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, cancer staging, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft-tissues, e.g. in the magnetic resonance imaging of the brain, brain or abdomen. Howe ...
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Fourth Ventricle
The fourth ventricle is one of the four connected fluid-filled cavities within the human brain. These cavities, known collectively as the ventricular system, consist of the left and right lateral ventricles, the third ventricle, and the fourth ventricle. The fourth ventricle extends from the cerebral aqueduct (''aqueduct of Sylvius'') to the obex, and is filled with cerebrospinal fluid (CSF). The fourth ventricle has a characteristic diamond shape in cross-sections of the human brain. It is located within the pons or in the upper part of the medulla oblongata. CSF entering the fourth ventricle through the cerebral aqueduct can exit to the subarachnoid space of the spinal cord through two lateral apertures and a single, midline median aperture. Boundaries The fourth ventricle has a roof at its ''upper'' (posterior) surface and a floor at its ''lower'' (anterior) surface, and side walls formed by the cerebellar peduncles (nerve bundles joining the structure on the posterior sid ...
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Endoscopic Third Ventriculostomy
Endoscopic third ventriculostomy (ETV) is a surgical procedure for treatment of hydrocephalus in which an opening is created in the floor of the third ventricle using an endoscope placed within the ventricular system through a burr hole. This allows the cerebrospinal fluid to flow directly to the basal cisterns, bypassing the obstruction. Specifically, the opening is created in the translucent tuber cinereum on the third ventricular floor. Medical uses The ETV procedure is used as an alternative to a cerebral shuntHydrocephalus and Treatment: Shunts and Endoscopic Third Ventriculostomy
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mainly to treat certain forms of ...
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Lateral Ventricles
The lateral ventricles are the two largest ventricles of the brain and contain cerebrospinal fluid (CSF). Each cerebral hemisphere contains a lateral ventricle, known as the left or right ventricle, respectively. Each lateral ventricle resembles a C-shaped cavity that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramina where each lateral ventricle connects to the single, central third ventricle. Along the path, a posterior horn extends backward into the occipital lobe, and an anterior horn extends farther into the frontal lobe. Structure Each lateral ventricle takes the form of an elongated curve, with an additional anterior-facing continuation emerging inferiorly from a point near the posterior end of the curve; the junction is known as the ''trigone of the lateral ventricle''. The centre of the superior curve is referred to as the ''body'', while the three ...
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Cerebral Shunt
A cerebral shunt is a device permanently implanted inside the head and body to drain excess fluid away from the brain. They are commonly used to treat hydrocephalus, the swelling of the brain due to excess buildup of cerebrospinal fluid (CSF). If left unchecked, the excess CSF can lead to an increase in intracranial pressure (ICP), which can cause intracranial hematoma, cerebral edema, crushed brain tissue or herniation. The drainage provided by a shunt can alleviate or prevent these problems in patients with hydrocephalus or related diseases. Shunts come in a variety of forms, but most of them consist of a valve housing connected to a catheter, the lower end of which is usually placed in the peritoneal cavity. The main differences between shunts are usually in the materials used to construct them, the types of valve (if any) used, and whether the valve is programmable or not. Description Valves types Shunt location The location of the shunt is determined by the neurosurg ...
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Cell Division
Cell division is the process by which a parent cell (biology), cell divides into two daughter cells. Cell division usually occurs as part of a larger cell cycle in which the cell grows and replicates its chromosome(s) before dividing. In eukaryotes, there are two distinct types of cell division: a vegetative division (mitosis), producing daughter cells genetically identical to the parent cell, and a cell division that produces Haploidisation, haploid gametes for sexual reproduction (meiosis), reducing the number of chromosomes from two of each type in the diploid parent cell to one of each type in the daughter cells. In cell biology, mitosis (Help:IPA/English, /maɪˈtoʊsɪs/) is a part of the cell cycle, in which, replicated chromosomes are separated into two new Cell nucleus, nuclei. Cell division gives rise to genetically identical cells in which the total number of chromosomes is maintained. In general, mitosis (division of the nucleus) is preceded by the S stage of interph ...
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Cell Migration
Cell migration is a central process in the development and maintenance of multicellular organisms. Tissue formation during embryonic development, wound healing and immune responses all require the orchestrated movement of cells in particular directions to specific locations. Cells often migrate in response to specific external signals, including chemical signals and mechanical signals. Errors during this process have serious consequences, including intellectual disability, vascular disease, tumor formation and metastasis. An understanding of the mechanism by which cells migrate may lead to the development of novel therapeutic strategies for controlling, for example, invasive tumour cells. Due to the highly viscous environment (low Reynolds number), cells need to continuously produce forces in order to move. Cells achieve active movement by very different mechanisms. Many less complex prokaryotic organisms (and sperm cells) use flagella or cilia to propel themselves. Eukaryot ...
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Chromosome Abnormality
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Numerical abnormality An abnormal number of chromosomes is called aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosome ...
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Ciliopathic
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondria bu ...
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Encephalocele
Encephalocele is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location. Signs and symptoms Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include neurologic problems, hydrocephalus (cerebrospinal fluid accumulated in the brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an abnormally small head), ataxia (uncoordinated muscle movement), developmental delay, vision problems, mental and growth retardation, and seizures. File:Encephalocele of a newborn.JPG, A neonate with a large encephalocele. File:Encephalocele2.jpg, Encephalocele on ...
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Genetic Conditions
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genet ...
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Parinaud's Syndrome
Parinaud's syndrome is an inability to move the eyes up and down. It is caused by compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF). The eyes lose the ability to move upward and down. It is a group of abnormalities of eye movement and pupil dysfunction. It is caused by lesions of the upper brain stem and is named for Henri Parinaud (1844–1905), considered to be the father of French ophthalmology. Signs and symptoms Parinaud's syndrome is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by: * Paralysis of upwards gaze: Downward gaze is usually preserved. This vertical palsy is supranuclear, so doll's head maneuver should elevate the eyes, but eventually all upward gaze mechanisms fail. * Pseudo- Argyll Robertson pupils: Accommodative paresis ensues, and pupils become mid-dilated and show light-near dissociation. * Convergence-retraction nystagmus: Attempts at upward gaze often p ...
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