81. Excretion Of Catecholamine Metabolites By Children With Familial Dysautonomia -- Patients with familial dysautonomia were found to excrete elevated quantities of HVA, diminished quantities of VMA and HMPG, and normal amounts of TM and NM http://pediatrics.aappublications.org/cgi/content/abstract/46/4/513

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Gitlow, S. E. Articles by Dziedzic, S. Pediatrics, Oct 1970, 513-522, Vol 46, No. 4 Excretion of catecholamine metabolites by children with familial dysautonomia SE Gitlow, LM Bertani, E Wilk, BL Li and S Dziedzic Mount Sinai School of Medicine, Fifth Avenue and 100th Street, New York, New York 10029. ABSTRACT. Although a defect in catecholamine metabolism has been suggested in familial dysautonomia, the specific nature and extent of this abnormality has not been defined. Highly specific and sensitive assay techniques were used to measure the excretion of vanillylmandelic acid (VMA), 3-methoxy-4-hydroxyphenylethyleneglycol (HMPG), total metanephrines

82. Progressive Sensory Loss In Familial Dysautonomia -- Axelrod Et Al. 67 (4): 517 familial dysautonomia is a hereditary disease with variable penetrance which Assessing function and pathology in familial dysautonomia assessment of http://pediatrics.aappublications.org/cgi/content/abstract/67/4/517

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Axelrod, F. B. Articles by Spielholz, N. Progressive sensory loss in familial dysautonomia FB Axelrod, K Iyer, I Fish, J Pearson, ME Sein and N Spielholz Clinical variability in sensory impairment was demonstrated among 75 patients with familial dysautonomia. Older patients had a greater tendency toward increased dysfunction in pain sensation, joint position and Romberg's sign, and vibratory sense. Significant worsening with increased age was supported by retesting of 53 patients after a five- year interval. Sensory and motor axon loss were indicated by electrodiagnostic testing of peripheral nerves and abnormal cortical somatosensory evoked potentials.

83. Familial Dysautonomia Hope Foundation, Inc. (FD Hope): National Institute Of Neu The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg705.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations Professional Societies Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Find People Voluntary Organizations Organization Contact Information Familial Dysautonomia Hope Foundation, Inc. (FD Hope) 1170 Green Knolls Drive Buffalo Grove, IL 60089 Tel: 847-913-0455 EMail: fdhope@comcast.net http://www.fdhope.org Description: Non-profit organization that works to expand and accelerate research towards a cure for familial dysautonomia and to improve the lives of children and adults challenged by the disease. Funds research programs, provides a support network for patients and families, and promotes education and awareness in the medical community and public. Organizations such as this one may focus on information, research, fundraising, advocacy and awareness programs, rehabilitation, or patient support. They are not part of the Federal Government and they may not be tax-exempt.

84. Dysautonomia Information Page: National Institute Of Neurological Disorders And Synonym(s) Autonomic Dysfunction, familial dysautonomia, RileyDay Syndrome familial dysautonomia Hope Foundation, Inc. (FD Hope) http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Dysautonomia Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Dysautonomia NINDS Dysautonomia Information Page Synonym(s): Autonomic Dysfunction, Familial Dysautonomia, Riley-Day Syndrome Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Dysautonomia? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Dysautonomia? Is there any treatment? There is no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, frequent small meals, a high-salt diet, and drugs such as fludrocortisone, midodrine, and ephedrine. What is the prognosis?

85. Scientists Identify The Gene For Familial Dysautonomia, A Degenerative Neurologi Scientists identify the gene for familial dysautonomia, a degenerative gene causes familial dysautonomia by Susan Slaugenhaupt et al. and Familial http://www.scienceblog.com/community/older/2001/D/200114338.html

January 2001 From The American Journal of Human Genetics Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder In the March issue of The American Journal of Human Genetics, two groups report that mutations in the IKBKAP gene, encoding the protein IKAP, cause Familial Dysautonomia (FD). Two single base pair mutations in this gene account for nearly 100% of FD cases, and this finding will revolutionize genetic testing for this devastating disorder. FD is almost exclusively found in people of Ashkenazi Jewish origin, and it is estimated that 1 out of every 32 people in this population carry an FD mutation. People with two mutant copies of the IKBKAP gene show poor development of and degeneration of the sensory and autonomic nervous systems. The symptoms in these affected individuals include: abnormal sweating, hypertension, difficulty feeding and sucking, gastrointestinal dysfunction, and insensitivity to pain. FD is fatal; only 50% of patients reach age 30 years. The major FD mutation, which accounts for 99.5% of disease chromosomes, results in aberrant splicing of the IKBKAP RNA and thus the loss of one of the coding regions for the IKAP protein. A second, much less common mutation was found to cause a single amino acid change in a putative regulatory region of the protein. Together, these mutations are believed to account for all of the Ashkenazi Jewish cases of FD. With this finding, genetic testing for FD will become very effective and much less expensive.

86. Familial Dysautonomia - Information And Support Resources familial dysautonomia Overview, Screening and Testing Information, Support Resouces. http://www.mazornet.com/genetics/familial_dysautonomia.asp

Jewish Genetic Diseases A Mazornet Guide VISIT MazorNet's other Jewish Guides The MazorNet-Jewish Celebrations Kosher Restaurant Guide The MazorNet- Jewish Celebrations Vendor Directory ( ... Photographers, Kosher Caterers, Bridal Gowns, and Much More) Important Information Home Page Genetic Counseling and Screening Genetic Screening Laboratories - A Directory A Brief Key to Basic Genetic ... s Select Disorder Bloom's Syndrome Breast and Ovarian Cancers Breast Cancers - Prevention and Resources Canavan Disease ... Ulcerative Colitis Recommended Reeading Genetic Diversity Among Jews - Diseases and Markers at the DNA Level Provides an authoritative, up-to-date account of the impact of molecular genetics on our understanding of genetic diseases prevalent among Jews. Jewish Genetic Disorders : A Layman's Guide Guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish, including a short history of the Jews and basic facts concerning genetics and genetic disorders. Interactive Jewish Genetic Diseases Boards Familial Dysautononmia (FD) Familial Dysautonomia (FD) is an inherited disorder, a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. The autonomic nervous system controls such involuntary functions such as swallowing, digestion, temperature and blood pressure regulation.

87. Riley-Day Syndrom/Familial Dysautonomia Subject RileyDay Syndrom/familial dysautonomia; From hadas_e@netvision.net.il (Hadas Eyal); Date Sat, 07 Sep 1996 003042 -0700 http://list.dysphagia.com/dysphagia/1996-September/msg00024.html

Date Prev Date Next [Chronological] [Thread] ... [Top] Riley-Day Syndrom/Familial Dysautonomia Subject Riley-Day Syndrom/Familial Dysautonomia From hadas_e@netvision.net.il (Hadas Eyal) Date: Sat, 07 Sep 1996 00:30:42 -0700 Hello everyone, This case involves a child who is chronologically 2 yrs old. Developmentally he is at about 12 months - a year delayed across the board. Nutrition and hydration is maintained by G-tube feedings. He does not take liquids P.O per physician's orders due to repeated aspirations and pneumonias. As characteristic of children with this syndrom, he rejects any food given to him orally - he won't take food into his mouth. He does mouth objects. When food is presented he has a stress response, morrow reflex/startle reflex, breaks into a sweat etc. Does anyone have any recommendations, tried and true, to desensitize this child and help him accept anything orally? Communication is limited. Thanks! Prev by Date: Riley-Day syndrome Next by Date: valsalva maneuver Index(es): Chronological Thread

88. Geneticalliance.org familial dysautonomia Also known as RileyDay syndrome Support Groups familial dysautonomia Hope Foundation 605 5th Avenue, NE Conover, NC 28613 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

89. Entrez PubMed The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5cM region on chromosome 9q31, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

90. Familial Dysautonomia - General Practice Notebook familial dysautonomia is a rare syndrome caused by an inborn error of catecholamine metabolism. It is inherited in an autosomal recessive manner, http://www.gpnotebook.co.uk/cache/-637140978.htm

familial dysautonomia Familial dysautonomia is a rare syndrome caused by an inborn error of catecholamine metabolism. It is inherited in an autosomal recessive manner, mainly in Jews. Most sufferers die from respiratory infection or uraemia in early childhood. Click here for more information...

91. Brain -- Sign In Page familial dysautonomia (FD; RileyDay syndrome) is an autosomal recessive familial dysautonomia is the most extensively described of a rare group of http://brain.oxfordjournals.org/cgi/content/full/127/9/2090

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription* to Brain Online. * Please note that articles prior to 1996 are not normally available via a current subscription. In order to view content before this time, access to the Oxford Journals digital archive is required. Alternatively, you may purchase short-term access on a Pay per Article basis. Please see below for more details. Full Text Assessing function and pathology in familial dysautonomia: assessment of temperature... Hilz et al. Brain. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (1) Request Permissions PubMed PubMed Citation Articles by Hilz, M. J. Articles by Kennedy, W. R. To view this item, select one of the options below: Sign In User Name Sign in without cookies.

92. Assessing Function And Pathology In Familial Dysautonomia: Assessment Of Tempera Assessing function and pathology in familial dysautonomia assessment of temperature perception, sweating and cutaneous innervation http://brain.oxfordjournals.org/cgi/content/abstract/127/9/2090

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Brain Advance Access originally published online on July 7, 2004 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (1) Request Permissions PubMed PubMed Citation Articles by Hilz, M. J. Articles by Kennedy, W. R. Brain, Vol. 127, No. 9, 2090-2098, September 2004 Guarantors of Brain doi: 10.1093/brain/awh235 Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation Max J. Hilz Felicia B. Axelrod Andreas Bickel Brigitte Stemper Miroslaw Brys Gwen Wendelschafer-Crabb and William R. Kennedy

93. GOVERNOR PATAKI SIGNS BILL RECOGNIZING FAMILIAL DYSAUTONOMIA I am hopeful that the people who suffer from familial dysautonomia, a genetic disease primarily affecting a small number of Ashkenazi Jews, will now be in a http://www.state.ny.us/governor/press/year02/july31_3_02.htm

FOR IMMEDIATE RELEASE: July 31, 2002 GOVERNOR PATAKI SIGNS BILL RECOGNIZING FAMILIAL DYSAUTONOMIA Important New Law Will Make it Easier for Afflicted Families to Receive Services Governor George E. Pataki today signed into law legislation to expressly include familial dysautonomia (FD), a rare genetic disease, within the legal definition of "developmental disability." The new law will raise awareness of the disease and make it easier for families to receive needed services from government entities and service providers. "One-third of the worldwide FD patients reside in the greater New York City area, and we are committed to helping the families who must deal with this terrible disease on a daily basis," Governor Pataki said. "This new law will help to raise public awareness of this rare disease, while also ensuring that the families who are impacted by FD receive the support and services they need." Under State Law, a "developmental disability" is defined as a disability which is attributable to: mental retardation, cerebral palsy, epilepsy, neurological impairment or autism; any other condition of a person found to be closely related to mental retardation; or dyslexia. This bill would add FD to this list of disabilities. Senator Jim Lack said, "I commend Governor Pataki for making this commitment to Familial Dysautonomia patients and their families in New York State. This new law will not only raise awareness of the disease, it will make it easier for the patients and families to obtain much needed care and treatment."

94. Familial Dysautonomia Dr. Koop Riley-Day syndromefamilial dysautonomia; Hereditary sensory and autonomic neuropathy - type III. Causes, incidence, and risk factors. Riley-Day syndrome is inherited as an http://www.bchealthguide.org/kbase/glossary/tv789/tv7892/def.htm

Familial dysautonomia Familial dysautonomia (FD) is a rare genetic disease caused by abnormal development of the nervous system. People with FD have problems feeling pain and heat, may have problems with balance and swallowing, and are unable to regulate their body temperature and blood pressure. Symptoms of FD include severe eye problems, feeding difficulties, and poor weight gain because of a weak suck reflex. Pneumonia may occur when uncoordinated swallowing allows breast milk or formula into the lungs. Other common symptoms include lack of coordination, inability to feel pain, excessive sweating, and developmental delays in speech and motor skills. Many children have stunted growth and curvature of the spine (scoliosis). FD is treated with surgery to help maintain nutrition and prevent pneumonia. Medications are used to control vomiting, eye dryness, and blood pressure. Author: Katy Magee, MA Last Updated May 30, 2003 Medical Review: Patrice Burgess, MD - Family Medicine This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

95. Genetic Disorders Forum - Familial Dysautonomia Information familial dysautonomia, familial dysautonomia Information, Genetic Disorders Forum , health forums, medical questions, medical information, medical symptoms, http://ehealthforum.com/health/subject80_348594_what.html

medical questions health forums become a member log in ... homepage Welcome to our newest member: Welcome! Health Forum is an online community for health questions. Although anyone can view forum messages, only registered members are allowed to post messages. If this is your first time, please take a moment to register so you can start interacting with others. There is no fee. login: password: Familial Dysautonomia : Information Consumer Health Information Familial Dysautonomia • Diagnosis • Duration • Additional Info • Prevention ... • Ask a Question GigaSearch inkjet cartridge canon inkjet cartridge canon , printer ink at cheap prices, inkjet cartridge cheap-printer-ink cheap inkjet cartridge High Quality cheap inkjet cartridge cheap-printer-ink inkjet printer ink Our compatible inkjet printer ink inks are as rich and vibrant, and as fast-drying laser-toner-cartridge compatible inkjet cartridge Quality discount compatible inkjet cartridge , and ink jet office supplies from Epson, Hewlett Packard / HP, Lexmark and Canon laser-toner-cartridge lexmark inkjet Printer ink supplies for lexmark inkjet , ink cartridge refills, printer ink and inkjet cartridges printer-ink-cartridges discount inkjet cartridges discount inkjet cartridges cartridges, printer ink at cheap prices, inkjet cartridges

96. Riley-Day Syndrome familial dysautonomia. autosomal recessive; seen in Jewish infants. malfunction of autonomic nervous system; possibly associated with catecholamine release http://chorus.rad.mcw.edu/doc/00356.html

CHORUS Collaborative Hypertext of Radiology Respiratory system About CHORUS Search Feedback Riley-Day syndrome familial dysautonomia autosomal recessive seen in Jewish infants malfunction of autonomic nervous system possibly associated with catecholamine release + beta-NGF hypersecretion of mucous glands XR resembles cystic fibrosis Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Related CHORUS documents: Chagas disease esophagus: scleroderma cystic fibrosis achalasia ... esophageal dysmotility Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

97. Screening For Familial Dysautonomia Will Begin Soon -- Siegel-Itzkovich 322 (728 Screening for familial dysautonomia will begin soon. Mass screening tests for familial dysautonomia, a degenerative and fatal neurological disorder that http://bmj.bmjjournals.com/cgi/content/abridged/322/7282/319/a

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract Abridged PDF Full text Respond to this article ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager PubMed Articles by Siegel-Itzkovich, J. Related content Other Neurology Genetics Screening BMJ 2001;322:319 ( 10 February ) News News roundup Screening for familial dysautonomia will begin soon Mass screening tests for familial dysautonomia, a degenerative and fatal neurological disorder that affects only people of Ashkenazi Jewish origin, will begin soon in Israel and the United States. This development follows the Israeli and US discovery of the mutant recessive gene responsible for familial dysautonomia, which is as common as the better known Tay-Sachs disease, which also particularly affects Ashkenazi Jews. Two single base pair mutations in this gene account for nearly all cases of familial dysautonomia, and the finding is expected to revolutionise genetic

98. MedlinePlus Medical Encyclopedia: Riley-Day Syndrome familial dysautonomia; Hereditary sensory and autonomic neuropathy type III. Definition Return to top. Riley-Day syndrome is an inherited disorder that http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Riley-Day syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Chromosomes and DNA Alternative names Return to top Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Definition Return to top Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time. Causes, incidence, and risk factors Return to top Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit a copy of the malfunctioning gene from each parent in order to develop the condition. It is seen most often in people of Eastern European Jewish ancestry (Ashkenazi Jews), where the incidence is 1 in 3,700. The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population. Symptoms Return to top poor growth feeding difficulties breath holding sweating while eating long episodes of vomiting lack of response to painful stimuli seizures hypotonia , low muscle tone recurring bouts of fever recurring bouts of high blood pressure poor coordination - unsteady gait an unusually smooth tongue surface decreased taste diarrhea/constipation severe scoliosis skin blotching Infants with this condition have feeding problems and develop pneumonia caused by breathing food into their airways. Vomiting and sweating spells begin as the infant matures. Young children may also have breath-holding spells that produce unconsciousness, since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.

99. NEJM -- Deficient Sympathetic Nervous Response In Familial Dysautonomia Ictal SPECT during autonomic crisis in familial dysautonomia. Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic http://content.nejm.org/cgi/content/abstract/294/12/630

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 294:630-633 March 18, 1976 Number 12 Next Deficient sympathetic nervous response in familial dysautonomia MG Ziegler, CR Lake, and IJ Kopin Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Norepinephrine concentration and dopamine-beta-hydroxylase activity were measured in the plasma of 10 dysautonomic patients and 10 normal subjects while they were reclining, standing and exercising. While reclining, dysautonomic patients had normal norepinephrine concentrations and blood pressure, but after standing they did not have a normal increase in their levels of norepinephrine (P less than 0.005), dopamine-beta-hydroxylase (P less than 0.05) or plasma protein concentration (P less than 0.01); they became hypotensive. In reclining dysautonomic patients there appeared to be a correlation between blood pressure and plasma norepinephrine concentration. These data support the view that hypertension and hypotension in dysautonomia are related to the rate of norepinephrine release. This article has been cited by other articles: Bernardi, L., Hilz, M., Stemper, B., Passino, C., Welsch, G., Axelrod, F. B. (2003). Respiratory and Cerebrovascular Responses to Hypoxia and Hypercapnia in Familial Dysautonomia.

100. Familial Dysautonomia, Eastern Carolina familial dysautonomia University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/142300.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Health Library An extensive resource for information on illnesses, conditions, drugs, medical tests, and more. Familial dysautonomia Familial dysautonomia (FD) is a rare genetic disease caused by abnormal development of the nervous system. People with FD have problems feeling pain and heat, may have problems with balance and swallowing, and are unable to regulate their body temperature and blood pressure. Symptoms of FD include severe eye problems, feeding difficulties, and poor weight gain because of a weak suck reflex. Pneumonia may occur when uncoordinated swallowing allows breast milk or formula into the lungs. Other common symptoms include lack of coordination, inability to feel pain, excessive sweating, and developmental delays in speech and motor skills. Many children have stunted growth and curvature of the spine (scoliosis). FD is treated with surgery to help maintain nutrition and prevent pneumonia. Medications are used to control vomiting, eye dryness, and blood pressure. Credits Author Katy Magee, MA

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