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Schizencephaly
Schizencephaly () is a rare birth defect of the Human brain, brain, characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include epilepsy, motor deficits, and psychomotor retardation. Presentation Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly, the fluid-filled component is entirely lined by Heterotopia (medicine), heterotopic grey matter, while a porencephalic cyst is lined mostly by white matter. Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak or paralyzed on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Porencephaly
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or Body cavity, cavities within the cerebral hemisphere.Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek language, Greek roots, the word ''porencephaly'' means 'holes in the brain'. The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EMX2
Homeobox protein Emx2 is a protein that in humans is encoded by the ''EMX2'' gene. Function The homeodomain transcription factor EMX2 is critical for central nervous system and urogenital development. EMX1 (MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developing ''Drosophila'' head. upplied by OMIM The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila melanogaster “empty spiracles” gene. The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in Drosophila melanogaster. In humans, EMX2 shows high expression in the dorsal telencephalon, olfactory neuroepithelium, as well as the urogenital system. In the developing uroepithelium, EMX2 is negatively regulated by HOXA10. EMX2 has been associated with Schizencephaly Schizencephaly () is a rare birth defect of the Human brain, brain, characterized by abnormal clefts lined with grey matte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth Defect
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or dia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Quadriparesis
Tetraplegia, also known as quadriplegia, is defined as the dysfunction or loss of motor and/or sensory function in the cervical area of the spinal cord. A loss of motor function can present as either weakness or paralysis leading to partial or total loss of function in the arms, legs, trunk, and pelvis. (Paraplegia is similar but affects the thoracic, lumbar, and sacral segments of the spinal cord and arm function is retained.) The paralysis may be flaccid or spastic. A loss of sensory function can present as an impairment or complete inability to sense light touch, pressure, heat, pinprick/pain, and proprioception. In these types of spinal cord injury, it is common to have a loss of both sensation and motor control. Signs and symptoms Although the most obvious symptom is impairment of the limbs, functioning is also impaired in the trunk and pelvic organs. This can lead to loss or impairment of controlling bowel and bladder, sexual function, digestion, breathing and other aut ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SIX3
Homeobox protein SIX3 is a protein that in humans is encoded by the ''SIX3'' gene. Function The SIX homeobox 3 (SIX3) gene is crucial in embryonic development by providing necessary instructions for the formation of the forebrain and eye development. SIX3 is a transcription factor that binds to specific DNA sequences, controlling whether the gene is active or inactive. Activity of the SIX3 gene represses Wnt1 gene activity which ensures development of the forebrain and establishes the proper anterior posterior identity in the mammalian brain. By blocking Wnt1 activity, SIX3 is able to prevent abnormal expansion of the posterior portion of the brain into the anterior brain area. During retinal development, SIX3 has been proven to hold a key responsibility in the activation of Pax6, the master regulator of eye development. Furthermore, SIX3 assumes its activity in the PLE (presumptive lens ectoderm), the region in which the lens is expected to develop. If its presence is re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to form images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from computed tomography (CT) and positron emission tomography (PET) scans. MRI is a medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other NMR applications, such as NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft tissues, e.g. in the brain or abdomen. However, it may be perceived as less comfortable by patients, due to the usually longer and louder measurements with the subject in a long, confining tube, although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Computed Tomography
A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or radiology technologists. CT scanners use a rotating X-ray tube and a row of detectors placed in a gantry to measure X-ray attenuations by different tissues inside the body. The multiple X-ray measurements taken from different angles are then processed on a computer using tomographic reconstruction algorithms to produce tomographic (cross-sectional) images (virtual "slices") of a body. CT scans can be used in patients with metallic implants or pacemakers, for whom magnetic resonance imaging (MRI) is contraindicated. Since its development in the 1970s, CT scanning has proven to be a versatile imaging technique. While CT is most prominently used in medical diagnosis, it can also be used to form images of non-living objects. The 1979 N ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Collagen, Type IV, Alpha 1
Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the ''COL4A1'' gene on chromosome 13. It is ubiquitously expressed in many tissues and cell types. COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis. Mutations in the gene have been linked to diseases of the brain, muscle, kidney, eye, and cardiovascular system. The ''COL4A1'' gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. Structure Gene The ''COL4A1'' gene resides on chromosome 13 at the band 13q34 and contains 54 exons. This gene produces 2 isoforms through alternative splicing. Protein COL4A1 belongs to the type IV collagen family and contains three domains: a short N-terminal domain, a long triple-helical 7S domain at its center, and a non-collagenous 1 (NC1) domain at its C-terminal. The triple-helical domain contains interrupted G-X-Y repeats, which is suspected to allow flexibility of the domain. The NC1 domain is com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytomegalovirus
''Cytomegalovirus'' (CMV) (from ''cyto-'' 'cell' via Greek - 'container' + 'big, megalo-' + -''virus'' via Latin 'poison') is a genus of viruses in the order '' Herpesvirales'', in the family '' Herpesviridae'', in the subfamily '' Betaherpesvirinae''. Humans and other primates serve as natural hosts. The 11 species in this genus include '' human betaherpesvirus 5'' (HCMV, human cytomegalovirus, HHV-5), which is the species that infects humans. Diseases associated with HHV-5 include mononucleosis and pneumonia, and congenital CMV in infants can lead to deafness and ambulatory problems. In the medical literature, most mentions of CMV without further specification refer implicitly to human CMV. Human CMV is the most studied of all cytomegaloviruses. MX2/MXB protein was identified as a restriction factor for herpesviruses, which acts at a very early stage of the replication cycle and MX2/MXB restriction of herpesvirus requires GTPase activity. Taxonomy Within the '' Her ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stroke
Stroke is a medical condition in which poor cerebral circulation, blood flow to a part of the brain causes cell death. There are two main types of stroke: brain ischemia, ischemic, due to lack of blood flow, and intracranial hemorrhage, hemorrhagic, due to bleeding. Both cause parts of the brain to stop functioning properly. Signs and symptoms of stroke may include an hemiplegia, inability to move or feel on one side of the body, receptive aphasia, problems understanding or expressive aphasia, speaking, dizziness, or homonymous hemianopsia, loss of vision to one side. Signs and symptoms often appear soon after the stroke has occurred. If symptoms last less than 24 hours, the stroke is a transient ischemic attack (TIA), also called a mini-stroke. subarachnoid hemorrhage, Hemorrhagic stroke may also be associated with a thunderclap headache, severe headache. The symptoms of stroke can be permanent. Long-term complications may include pneumonia and Urinary incontinence, loss of b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemorrhaging
Bleeding, hemorrhage, haemorrhage or blood loss, is blood escaping from the circulatory system from damaged blood vessels. Bleeding can occur internally, or externally either through a natural opening such as the mouth, nose, ear, urethra, vagina, or anus, or through a puncture in the skin. Hypovolemia is a massive decrease in blood volume, and death by excessive loss of blood is referred to as exsanguination. Typically, a healthy person can endure a loss of 10–15% of the total blood volume without serious medical difficulties (by comparison, blood donation typically takes 8–10% of the donor's blood volume). The stopping or controlling of bleeding is called hemostasis and is an important part of both first aid and surgery. Types * Upper head ** Intracranial hemorrhage — bleeding in the skull. ** Cerebral hemorrhage — a type of intracranial hemorrhage, bleeding within the brain tissue itself. ** Intracerebral hemorrhage — bleeding in the brain caused by the rup ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
