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Extractions: Usually exhibited in infants shortly after birth, symptoms of porencephaly include mental retardation, cerebral palsy or epilepsy. The brains of porencephaly patients show degenerative cavities and lesions. Researchers have suspected that the damage is the consequence of fetal trauma and/or genes affecting blood clotting that predispose to hemorrhage. An international team discovered a genetic defect that weakens blood vessels in the brain, making an infant much more vulnerable to hemorrhaging. The team was led by Dr. Douglas Gould a postdoctoral fellow at The Jackson Laboratory and Jackson Laboratory Staff Scientist and Howard Hughes Medical Institute Investigator Dr. Simon W.M. John. The researchers identified a mouse model of porencephaly. They found that the mice had a mutation in a collagen gene, COL4A1, which controls production of a basement membrane protein. As the name suggests, basement membranes provide foundations for a variety of tissues, including forming a strong sheath around blood vessels. The scientists concluded that the mutant collagen protein cannot be secreted into the basement membrane of the blood vessels causing them to be weakened. Instead, mutant collagen proteins accumulate within the cells lining the blood vessels possibly damaging them. The combination of cells with accumulated mutant protein and the weak basement membrane around blood vessels predisposes to hemorrhage.
Porencephaly Contact Group - Patient UK porencephaly Contact Group Patient UK. A directory of UK health, disease,illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/26739565/
Extractions: Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin. Health Insurance . Visit the Patient UK finance channel for quotes on health insurance and other financial products such as mortgages, life insurance, etc.
John_science_porencephaly Researchers Find Genetic Link to Cerebral Hemorrhage and porencephaly The researchers identified a mouse model of porencephaly. http://www.jax.org/news/john_science_porencephaly.html
Extractions: Bar Harbor, MaineResearchers at The Jackson Laboratory have discovered a genetic link to porencephaly, a rare but devastating neurological condition. Their research, published in the May 19 issue of the journal Science , may have significant implications for preventing the disease in humans. Usually exhibited in infants shortly after birth, symptoms of porencephaly include mental retardation, cerebral palsy or epilepsy. The brains of porencephaly patients show degenerative cavities and lesions. Researchers have suspected that the damage is the consequence of fetal trauma and/or genes affecting blood clotting that predispose to hemorrhage. An international team discovered a genetic defect that weakens blood vessels in the brain, making an infant much more vulnerable to hemorrhaging. The team was led by Dr. Douglas Gould a postdoctoral fellow at The Jackson Laboratory and Jackson Laboratory Staff Scientist and Howard Hughes Medical Institute Investigator Dr. Simon W.M. John. The researchers identified a mouse model of porencephaly. They found that the mice had a mutation in a collagen gene
Opera Directory An article about porencephaly, which is an extremely rare disorder of the centralnervous A summary about porencephaly and a list of major features. http://portal.opera.com/directory/?cat=527083
Obstetrical & Gynecological Survey - UserLogin Fetal porencephaly A Review of Etiology, Diagnosis, and Prognosis porencephalymay result from either a developmental anomaly or an antepartum http://www.obgynsurvey.com/pt/re/obgynsurv/fulltext.00006254-199509000-00023.htm
Extractions: Porencephaly may result from either a developmental anomaly or an antepartum intraparenchymal insult.Pre- and postnatal ultrasonography can demonstrate characteristic images of porencephaly. There is minimal literature on diagnosis and outcome of antenatally diagnosed porencephaly. There are two types of porencephaly: type I is generally due to an antepartum intraparenchymal hemorrhage. Type II lesions are usually developmental anomalies. Prognosis generally depends on the extent of the lesion.
Congenital Porencephaly Congenital porencephaly. The Indian Practitioner. 1997 Aug; 50(8) 7356.ABSTRACT porencephaly is any cavitation or CSF filled cyst in the brain. http://medind.nic.in/imvw/imvw10960.html
Extractions: Extracted from IndMED Gathwala G; Dua S. Deptt. of Paediatric medicine and neurosurgery, Pt. B D Sharma Postgraduate Institute of Medical Sciences, Rohtak-124001 Congenital porencephaly The Indian Practitioner. 1997 Aug; 50(8): 735-6 ABSTRACT: Porencephaly is any cavitation or CSF filled cyst in the brain. It may be congenital acquired. A rare case of congenital porencephaly is presented and its management has been discussed. KEYWORDS: Skull/RA; Skull/US; Intrauterine Devices; Human; Male; Child; Case Report References: 12 Record Identifier: NI203665
Extractions: Funding - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders Funding-you are in this section ... Jobs and Training You are here: Home Funding Funding News November 2000 The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Funding Resources Funding Overview Funding Strategy Funding Opportunities Grant Mechanisms ... Review Committees Funding News - you are in this section Program Areas Research Anticonvulsant Screening Anticonvulsant Screening Clinical Research Counterterrorism Epilepsy Research Web ... Technology Transfer Technology Transfer NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Funding News Email this to a friend or colleague Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) are seeking children with porencephaly, stroke, and cerebral palsy for a study of abnormal acquired and genetic coagulation factors. In the study, researchers will measure a series of potential risk factors for stroke that include autoimmune, inflammatory, and genetic clotting factor abnormalities. By identifying the factors that contribute to childhood stroke, porencephaly, and cerebral palsy, researchers hope this study will lay the groundwork for future research projects that will explore potential treatments.
Porencephaly Researchers find genetic link to cerebral hemorrhage and porencephaly. May 19, 2005 The researchers identified a mouse model of porencephaly. http://thecpnetwork.netfirms.com/porencephaly.html
Extractions: *~Porencephaly~* Directory: Cephalic Disorders Home Anecephaly Cebocephaly ... Research PORENCEPHALY is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue. The presence of porencephalic cysts can sometimes be detected by transillumination of the skull in infancy. The diagnosis may be confirmed by CT, MRI, or ultrasonography. More severely affected infants show symptoms of the disorder shortly after birth, and the diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (decreased muscle tone), seizures (often infantile spasms), and macrocephaly or microcephaly. Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation. Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus. The prognosis for individuals with porencephaly varies according to the location and extent of the lesion. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.
AnyWho: Internet Directory Assistance; Yellow Pages, White Pages, Toll-Free Numb ClinicalTrials.gov Information on Clinical Trials and Human Browse By Condition By Disease Heading Rare Diseases porencephaly.Include trials that are no longer recruiting patients. 1 study was found. http://www.anywho.com/cgi-bin/webdrill?catkey=gwd/Top/Health/Conditions_and_Dise
Surgery Door - Support Groups porencephaly Contact Group. 138 Heresan Road Ramsgate The porencephaly ContactGroup is a small group of parents who have children affected by the http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26739565
Stroke, Porenecephaly, Cerebral Palsy Study within the brain and the exact prevalence of porencephaly is not known.The cause of porencephaly is due to either a developmental problem or a stroke http://pedsccm.wustl.edu/RESEARCH/TRIALS/NIH-stroke.html
Extractions: The National Institutes of Health, the Kennedy Krieger Institute at John Hopkins University and the Childrens Memorial Hospital in Chicago are working together to explore the causes of unexplained childhood stroke, porencephaly and cerebral palsy. Porencephaly is defined as a cystic cavity (fluid-filled) within the brain and the exact prevalence of porencephaly is not known. The cause of porencephaly is due to either a developmental problem or a stroke that occurs before birth. Stroke can be defined as an acute neurological problem lasting greater than 24 hours and due to a blockage or rupture of a blood vessel in the brain. The incidence of stroke in children has been reported as high as 3 per 100,000 people but this is probably underestimated. Pediatric stroke occurs more frequently in children less than 2 years of age, and the cause is frequently undetermined. Childhood strokes can seriously affect motor and intellectual development, and lead to the development of spastic cerebral palsy. Additionally, about 20% of children with cerebral palsy have brain-imaging abnormalities suggestive of childhood stroke or porencephaly. While there are many well-defined risk factors for strokes in adults, very little is known about strokes in children. Many causes have been suspected and there is mounting evidence that genetic clotting factors may be responsible for a portion of childhood strokes. Early diagnosis of the risk factors for stroke in children may lead to a better diagnosis of related genetic disorders within that child's family. This would lead to better counseling and possible prevention of strokes and cerebral palsy.
Entrez PubMed We also show that COL4A1 mutations segregate with porencephaly in human families.Because not all mutant mice develop porencephaly, we propose that Col4a1 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
All Showcase - Porencephaly www.shapeupamerica.com/search/directory/Conditions manminresearchYongSung Choo. Birth, July, 24, 1995. Sex, Male. Diagnosis, porencephaly, Right.His mother took an operation of removing a cyst on the fallopian tube http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/P/Porencep
Cephalic Disorders - Types - Neurologychannel In porencephaly a cyst or cavity develops in a cerebral hemisphere. porencephaly may have a number of different causes, including absence of brain http://www.neurologychannel.com/cephalicdisorders/megalencephaly.shtml
Extractions: Megalencephaly This condition is marked by an abnormally large, heavy, usually malfunctioning brain. The head may be enlarged at birth or become abnormally large in the early years. A rare variation on this condition, unilateral megalencephaly (also called hemimegalencephaly), involves enlargement of half of the brain. This results in a large, often asymmetrical head. Causes
Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Debus, O. Arch Dis Child Fetal Neonatal Ed F121-F124 ( March ) Otfried Debus, Hans Georg Koch, Gerhard Kurlemann, Heinrich Vielhaber, Peter Weber, Department of Paediatrics, University Hospital Munster, Germany
