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         Spina Bifida Hydrocephalus Genetics:     more detail

61. Spina Bifida Research Yields Advances; Genetic Link Discovered As Folic Acid Awa
in Human Molecular genetics, identified the commonly associated with spina bifidainclude full or partial paralysis, hydrocephalus, complications with
http://www.lef.org/newsarchive/vitamins/2001/11/26/us/0000-2343-KEYWORD.Missing.

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Spina Bifida Research Yields Advances; Genetic Link Discovered As Folic Acid Awareness Increases
US Newswire
Novenber 26, 2001
WASHINGTON, Nov 26, 2001 (U.S. Newswire via COMTEX) Encouraging advancements in spina bifida research were announced last week as scientists identified a gene they believe to be associated with spina bifida. This important finding coincided with the release of folic acid awareness data from the Spina Bifida Association of America (SBAA). A team of scientists at the Institute of Child Health and University College and Imperial College in London, announced they had identified a gene that may be responsible for causing one form of spina bifida. The research, published in Human Molecular Genetics, identified the gene Lpp1 in a strain of mice that developed a severe form of spina bifida. The gene identified in the mice is similar to one found in humans, which indicates the findings may have relevance in humans. Each year approximately 4,000 pregnancies are affected by spina bifida in the United States alone. Spina bifida occurs during the first month of pregnancy when the spinal column fails to fully close. The effects of spina bifida vary with each case. Conditions commonly associated with spina bifida include full or partial paralysis, hydrocephalus, complications with bladder and bowel function, and learning disabilities.

62. Colorado Spina Bifida Association
There will be a session about the newest research on Folic Acid and genetics withregard to He had been born with spina bifida and hydrocephalus, but what
http://www.coloradospinabifida.org/news/q3_2001.html
"Climb Every Mountain"
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July/August/September 2001 The CSBA'S First Annual 5K Walk/Run/Roll
March of Dimes/Folic Acid Campaign

The 4th Annual CSBA Fall Conference

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The CSBA'S First Annual 5K Walk/Run/Roll
The CSBA is pleased to announce that our First Annual 5K Walk/Run/Roll will be held Sunday, Sept. 30th, 2001. Please note that this is the day after the Annual Fall Conference on Saturday, Sept. 29th. This will be an incredible opportunity to participate in a fun, family event that promotes awareness of spina bifida and celebrates children, teenagers and adults with spina bifida in our community. It's time to get involved... we can't do it without you! Invite your family, friends, co-workers and neighbors to participate with your family. You will receive a registration form in the mail in August. Extra forms can be obtained easily to hand out to others. Your pre-registration will help us in the planning process, but walk-in registration will also be accepted on Sunday, Sept. 30th. Details are as follows:
  • PLACE: Washington Park, Denver, CO

63. MJA: Kennedy, Spina Bifida
malformation and associated hydrocephalus, often requiring a weeks' gestation forspina bifida increased, although Specialist in Clinical genetics Royal Prince
http://www.mja.com.au/public/issues/aug17/kennedy/kennedy.html
Home Issues Classifieds More... ... Search
Spina bifida
We can reduce the incidence of this congenital defect with folate fortification of food MJA
Each year about 80 babies in Australia are born with spina bifida, a congenital malformation. Spina bifida, including meningocele and meningomyelocele, is one of the spectrum of birth defects known as neural tube defects (NTDs). These defects result from failure of the neural tube to close normally during the first five weeks of embryonic life. The severity of the defect depends on where it occurs and whether nervous tissue or only meninges are involved. At least 80% of people with spina bifida have an Arnold-Chiari malformation and associated hydrocephalus, often requiring a ventricular shunt. Other chronic problems include impaired mobility, bladder and bowel dysfunction, and scoliosis, all of which contribute to high medical and psychosocial morbidity. The incidence of NTDs varies considerably according to geography and ethnicity, ranging from 0.8 to more than 10 per 1000 live births. The incidence in Australia is currently 1.1 per 1000 live births. Recurrence risks, which are dependent on the background incidence, reflect this variation. In Australia the recurrence risk for a couple with a previous NTD-affected pregnancy is 3%-4%, and the risk for any first-degree relatives is 1%.

64. SPUC - Charities Bulletin - Part1 (A-B)
Association For spina bifida And hydrocephalus (ASBAH). to offer to abort her littleboy with spina bifida. Mothercare Professor of Paediatric genetics at the
http://www.spuc.org.uk/charities/part1.htm
A
Acorn Trust (Christian Concern For The Mentally Handicapped)
Provides small group homes for life for people suffering from mental handicaps. Their stance is strongly pro-life (Newsletters, 7/87 and 9/90) and anti-euthanasia (Reading Post, 15/3/90).
Action Research
Otherwise/Formerly: Action Research for the Crippled Child (ARCC)/National Fund for Research into Crippling Diseases; incorporating SPARKS - Sport Aiding Research into Crippling Diseases. (Member organisation of AMRC. Action Research have asked us to point out that contrary to our statement in the previous Charities Bulletin, they do not fund the MRC's Experimental Embryology and Teratology Unit, but made a grant to a vet working on mice in this unit. Their policy statement of March 1994 states: "[Action Research] has not funded any research project involving the use of human embryos in vitro [and] feels that in present circumstances it would not be appropriate for Action Research to consider or become involved in any way in such research." Action Research is a member of the AMRC a body which lobbied in favour of allowing experiments on human embryos at the time of the 1990 Embryo Bill.

65. SITE MAP
Lice Toilet Training PEDIATRIC genetics -Achondroplasia -Phenylketonsuria of Ataxia-Cerebral Palsy -hydrocephalus -spina bifida - Its clinical
http://www.pediatriconcall.com/fordoctor/Sitemap/sitemap.asp
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66. Congenital Malformations In Victoria Section 1
increased risk of having babies with spina bifida, hydrocephalus, renal agenesisand Unit, Orthopaedic Unit and the Victorian Clinical genetics Service (VCGS
http://www.dhs.vic.gov.au/phd/hce/peri/conmal/sec1.htm

67. Hydrocephalus
Overview of condition and information on cerebrospinal fluid flow. Symptoms list of malfunctioning shunts.Category Health Conditions and Diseases hydrocephalus Treatments...... In approximately 90 percent of people with spina bifida, the flow of cerebrospinal Insome babies born with hydrocephalus the condition is arrested if the
http://www.spinabifida.org/hydrocephalus.htm
HYDROCEPHALUS A clear, saltwater-like liquid called cerebrospinal fluid surrounds the brain. This fluid protects and nourishes the brain, carries away wastes from brain cells and contains important chemicals and nutrients. Each day the brain produces about a pint of cerebrospinal fluid (CSF) which flows in a continuous circuit through the brain cavities (ventricles) and over the surface of the brain and spinal cord until it is absorbed by the body. In approximately 90 percent of people with spina bifida, the flow of cerebrospinal fluid is obstructed. A blockage at the base of the brain results in a build up of fluid in the ventricles of the brain, which then expand and push against brain tissue and the bones of the skull. In an infant the plates of the skull are not yet fused together. This enables the plates to shift and accommodate the excess cerebrospinal fluid and thus lessen the amount of damage to the brain. In some babies born with hydrocephalus the condition is arrested if the blocked passage opens or the fluid is channelled elsewhere. If it continues to develop there is continuing pressure on the brain, which if untreated will cause brain damage. Hydrocephalus is usually treated by insertion of a shunt. A shunt is a device which is designed to drain excess cerebrospinal fluid from the brain and carry it to other parts of the body. A one-way valve is used, which usually sits outside the skull, but beneath the skin, somewhere behind the ear. (

68. Spina Bifida & Hydrocephalus
INFORMATION ON spina bifida AND hydrocephalus. In these pages, we discuss many ofthe problems and difficulties associated with spina bifida and hydrocephalus.
http://www.spinabifida.org/SBH Info.htm
INFORMATION ON SPINA BIFIDA AND HYDROCEPHALUS The pages that the links on the left lead to were written by staff of SBH Queensland. The pages form a booklet which is given as a reference to all schools, preschools, kindergartens etc. that children with spina bifida attend in Queensland. Even though the information is targeted to teachers and concerns children (not adults), there is a wealth of good information on spina bifida and hydrocephalus. In these pages, we discuss many of the problems and difficulties associated with spina bifida and hydrocephalus. However, it must always be kept in mind that children with these conditions are as varied as children everywhere. Some children will face many of these difficulties; others will have very few. Some will have limited abilities; others will be very able and have no trouble coping with all of the challenges that childhood and adolescence poses. Take every child as an individual. All children are! This Web site is designed to provide general information about the topics covered, to assist interested parties. It is compiled from information written by staff of SBH Queensland, as well as from various publications by authors not related to SBH Queensland. Accordingly, whilst SBH Queensland believes the information is the most accurate and up-to-date available, SBH Queensland accepts no responsibility for the information from other sources. There is still much to be learnt about spina bifida, hydrocephalus, and their causes and prevention. As further developments occur, the information may prove to be incorrect or incomplete. For this reason, and because the information is of a general nature, you should always obtain specific advice about matters affecting you.

69. The Health Library — Genetics And Birth Defects
genetics and Ashkenazi Jewish PopulationsUniversity of hydrocephalus A Guide forPatients, Families, and Folic Acid InformationSpina bifida Association of
http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics.html
Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 2 Page 3 Page 4 Page 5 General Genetics Organizations National Human Genome Research Institute (NHGRI) National Center for Biotechnology Information (NCBI Overviews Genetic Disorders:MEDLINEplus Human Genome Project Information:U.S. Department of Energy Genetics and Public Health In the 21st Century:CDC What are Genetic Disorders?: University of Utah Medical School ... Genetics/Birth Defects Topics:MEDLINEplus Genetic Testing and Counseling Genetic Testing/Counseling:MEDLINEplus An Introduction to Genetics and Genetic Testing:The Nemours Foundation Genetic Screening:University of Michigan Health System Maternal Serum Screening for Birth Defects:American College of Obstetricians and Gynecologists Gene Therapy Genes and Gene Therapy:MEDLINEplus Questions and Answers About Gene Therapy:National Cancer Institute Human Gene Therapy and the Role of the FDA:FDA Programs of Excellence in Gene Therapy:NHLBI Genetics of Specific Diseases GeneReviews:University of Washington Genetics and Ashkenazi Jewish Populations:University of Pittsburgh [PDF] Genes and Disease:NCBI Online Mendelian Inheritance in Man: NCBI See also specific diseases in the Diseases and Disorders pages of The Health Library website.

70. Spina Bifida - Page 2 Of 2
America. spina bifida and hydrocephalus Association of Canada A premiumassortment of resources available to families and caregivers.
http://specialchildren.about.com/cs/spinabifida/index_2.htm
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Parents of Teens with SB

A premier listserv for parents of teens with Spina Bifida. Kudos to Kim Zink for reaching out to families by offering support and information. Planet Zachary Best of the Net
Kim Zink, mom to Zachary, has built an outstanding site to empower families and caregivers about Spina bifida. From Planet Zachary. Rylie's Page About Spina Bifida Rylie's Mom, Tanya, is devoting her time to educating others about the benefits of Folic Acid in preventing spina bifida. An interesting site with lots of useful information and resources. SB Moms-N-Dads A listserv that offers support to Moms and Dads who are parenting children with Spina bifida.

71. Abstract Of SANDI Project
genetics and Folic Acid. genetics. Researchers have found that both geneticsand folic acid play a role in the occurrence of spina bifida.
http://ped1.med.uth.tmc.edu/spinabifida/genetics.html
Genetics and Folic Acid
Genetics
Researchers have found that both genetics and folic acid play a role in the occurrence of spina bifida. One portion of the SANDI Project is a genetics study. Our researchers can look at the genes found in blood to search for causers of spina bifida. Kids enrolled in the SANDI Project will have a small blood sample taken (about one teaspoon) for analysis. We also need the blood from the child's parents to complete the analysis.
Folic Acid
Each year one in 1000 babies born in North America and one in 750 babies in Canada is born with spina bifida. Even more are born with other neural tube defects (NTDs). NTDs are birth defects in which the brain, spinal cord and/or the bones covering these organs do not develop properly. These defects occur within the first month of pregnancy, before most women even know they are pregnant. Folic acid can help prevent both spina bifida and anencephaly, or a defect where babies are born with incompletely developed skulls and brains. Often anencephalic babies miscarriage or die shortly after birth.
Researchers have found that women of child-bearing age who take just 400 micrograms of folic acid a day can decrease their chance of having a baby with spina bifida by . The problem is that few women know that 400 micrograms (mcg), or .4 milligrams, of B vitamin folic acid can be so important.

72. The Contact A Family Directory - SPINA BIFIDA
Association for spina bifida and hydrocephalus (ASBAH) 42 Park Road PeterboroughPE1 2UQ Tel 01733 555988 Fax 01733 555985 email postmaster@asbah.org Web Site
http://www.cafamily.org.uk/Direct/s42.html
printer friendly SPINA BIFIDA home more about us in your area conditions information ... how you can help search this site Spina bifida is a neural tube defect and is a developmental anomaly which occurs very early in pregnancy. The neural tube develops to form the spinal cord, brain and spine. When Spina Bifida occurs, the tube is split and one or more vertebrae (small bones of the back) fail to form properly, thus leaving a gap. There are three main types of spina bifida. Spina bifida occulta where the only sign of the malformation is a dimple or hair at the site of the defect on the skin of the back. This condition is very mild and is usually symptomless although occasionally there may be continence problems and difficulties with mobility. In Spina bifida cystica a sac or cyst is visible on the back covered by a thin layer of skin. There are two forms: a meningocele and a myelomeningocele. In a meningocele the sac contains tissues which cover the spinal cord and cerebro-spinal fluid. The nerves are not normally badly damaged and there is little or no malfunction. This is the least common form of spina bifida. Myelomeningocele is the most common and severest form and is characterised by the inclusion in the sac of nerves and part of the spinal cord as well as tissue and cerebral-spinal fluid. Some degree of paralysis and loss of sensation occur below the site of the defect. The extent of the disability is dependent upon the extent of nerve damage.

73. The Contact A Family Directory - HYDROCEPHALUS
Support and advice about hydrocephalus are available from ASBAH (Associationfor spina bifida and hydrocephalus), see separate entry, spina bifida.
http://www.cafamily.org.uk/Direct/h54.html
printer friendly HYDROCEPHALUS home more about us in your area conditions information ... how you can help search this site Hydrocephalus is commonly, but inaccurately, known as 'water on the brain' .A watery fluid known as Cerebro Spinal Fluid (CSF) flows through narrow passageways from one ventricle to the next, out over the inside of the brain and down the spinal cord. CSF is continuously absorbed into the blood stream and the amount of pressure is kept within a narrow range. If the flow of fluid is obstructed at any point, it accumulates in the ventricles causing them to enlarge and compress surrounding brain tissue. In babies - but not in older children or adults - the head will enlarge. Treatment may be by insertion of a 'shunt' to redirect the excess CSF or, in some cases, by a third ventriculostomy. This will entail a hole being bored in the floor of the 3rd ventricle to aid the impaired CSF flow. Symptoms caused by raised pressure usually improve, but other signs of brain damage may remain. These can include subtle learning difficulties. Shunts can become blocked leading to headache, nausea, photophobia, inertia and irritability. Chronic infection may cause gradual deterioration in overall performance. Medical advice should be sought if a shunt blockage is suspected.

74. Neural Tube Defects
to promote the prevention of spina bifida and to enhance the lives of all affected S Association for spina bifida and hydrocephalus United Kingdom
http://ibis-birthdefects.org/start/ntdfact.htm
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... Etchings Anencephaly Encephalocele Folic Acid or FA Hydrocephalus - Arnold Chiari - Allied Disorders Meningocele - Meningomyelocele - Meningoencephalocele Meckel or Meckel Gruber or Dysencephalia splachnocystica Neural Tube Defects NTD Spina Bifida Special Resources Neural Tube Defects - Spina Bifida A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Spanish] [Ukrainian] [*][P] Folic Acid for the Prevention of Neural Tube Defects Policy Statement - American Academy of Pediatrics (1993). "NTDs are among the most common birth defects that result in infant mortality and serious disability ..." Knowledge and Use of Folic Acid by Women of Childbearing Age JAMA Women's Health and MMWR report. Results of the 1998 March of Dimes Birth Defects Foundation sponsored Gallup Organization survey of 2115 women. Folic Acid National Campaign - CDC, March of Dimes ... National Campaign on Folic Acid - Gate Page Folic Acid for Healthy Babies Prevention Model and Resource Guide NTD - Frequently asked Questions " ... how can women get folic acid? ... "

75. Interesting Links - Thames Valley Children's Centre
spina bifida and hydrocephalus Association of Canada. The SBHAO information.spina bifida and hydrocephalus Association of Ontario. The
http://www.tvcc.on.ca/low/links.php3?sublabels=Spina Bifida

76. Thames Valley Children's Centre — Links Of Interest
links to resources related to hydrocephalus, education, family Family Village's SpinaBifida page.
http://www.tvcc.on.ca/newdocs/links.php3?sublabels=Spina Bifida

77. Medical References: Spina Bifida
with the most severe form of spina bifida develop hydrocephalus, or fluid on
http://www.marchofdimes.com/pnhec/681_1224.asp
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Quick Reference and Fact Sheets Spina Bifida
Spina bifida is the most common of a group of birth defects called neural tube defects (NTDs). The neural tube is the embryonic structure that develops into the brain and spinal cord. Often called open spine, spina bifida affects the backbone and, sometimes, the spinal cord. It is among the most common severe birth defects in the United States, affecting 1,500 to 2,000 babies (one in every 2,000 live births) each year. Spina bifida and other NTDs occur more frequently among Hispanics and whites of European extraction and, less commonly, among Ashkenazi Jews, most Asian ethnic groups and African-Americans.
How Does Spina Bifida Affect a Child?
In the embryo, there is a tiny ribbon of tissue that folds inward to form a tube. This structure, called the neural tube, forms by the 28th day after conception. When this process goes awry and the neural tube does not close completely, defects in the spinal cord and in the vertebrae (small bones of the spine) can result. There are three forms of spina bifida:
  • Occulta.

78. SRHSB
Bladder . 1993, D Donnai, What is New in the genetics of Hydrocephalusand spina bifida? . 1990, D McLellan, Choices for Young Adults .
http://www.drcubittandpartners.org.uk/srhsb/holter.htm
Society for Research into
Hydrocephalus and Spina Bifida
Casey Holter Essay Prize
Dr John Holter CBE has endowed a triennial prize in memory of his son Casey.
The Casey Holter Essay Prize is next open for competition in 2004.
The competition will be judged blind by the Executive Committee and a prize of £250 will be awarded to the winner.
Further details and guidelines will be made available nearer the date. Casey Holter Memorial Prize Essay Winners
Jaleel Miyan,
Carole Sobkowiak,
Clare Draper "Humanity lost - the cost of cortical maldevelopment - is there light ahead?"
( dedicated to the memory of Michaela and Angela Miyan) Not awarded M Jouet "The genetics of Hydrocephalus" C A Sobkowiak
(First Prize) "Effect of Hydrocephalus on Neuronal Migration and Maturation" G S Liptak
(Special Prize) "Tethered Spinal Cord: An Analysis of Clinical Research" Not awarded Not awarded A I P Maas "The Rotterdam Teletransducer: State of the Device" Not awarded M Sellar "An Essay on Research into the Causation and Prevention of Spina Bifida"

79. Hydrocephalus; Treatment, Prevention, Cure
spina bifida spina bifida is a rare birth disorder, affecting approximately 1 HydrocephalusSearch here for information which may include treatment, diagnosis
http://www.healthlinkusa.com/content/155.html
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Arthritis and Your Health ... Women's Health Friday April 11, 2003 Spina Bifida:
Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

80. Spina Bifida; Treatment, Prevention, Cure
Hi! My name is Hannah and I'm the sister of Julia who has spina Bifidaand hydrocephalus. my name is Alex and I am three years old.
http://www.healthlinkusa.com/content/289D.html
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  • Alternative therapy struggles to bridge East-West divide
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    Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment
    Click here to read more
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    Click here to read more
    The government has approved the first generic version of the acne drug, Accutane
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Alternative Medicine
Arthritis and Your Health ... Women's Health Friday April 11, 2003 Spina Bifida:
Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

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