41. Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.drkoop.com/ency/article/001666sym.htm

Advertisement Search Dr. Koop Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Subscribe to our Free Newsletter Health Encyclopedia ... Privacy Policy Advertisement Advertisement Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Symptoms: Failure to thrive (grow) in infancy Fatty stools that appear pale in color Frothy stools Abnormally foul-smelling stools Protruding abdomen Developmental delay Poor muscle coordination that usually develops after age 10 Muscle weakness Slurred speech Curvature of spine Progressive decreased vision Balance and coordination difficulties Signs and tests: CBC (complete blood count) that shows abnormally shaped red blood cells (thorny appearance) Cholesterol studies, including total cholesterol that shows low levels of VLDL and LDL Stool collection that shows elevated fat levels Low levels of fat-soluble vitamins such as vitamins A, D, E, or K Ophthalmology exam showing retinal degeneration Absent or low apolipoprotein B levels in blood Genetic testing may be available for mutations in the APOB or MTP genes EMG or nerve conduction velocity testing may show demyelination of peripheral nerves Review Date: 8/6/2003 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

42. ACP Online - Medicine In Quotations Online A case report of abetalipoproteinemia (bassenkornzweig syndrome) A case report of abetalipoproteinemia (bassen-kornzweig syndrome)the first case in Japan. Akamatsu K, Sakaue H, Tada K, Mizukami http://www.acponline.org/cgi-bin/medquotes.pl?subject=Abetalipoproteinemia (Bass

43. Entrez PubMed Pathological case of the month. Abetalipoproteinemia (bassenkornzweig syndrome). Sidler AK, Huston BM, Thomas DB. Department of http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

44. Inheritance Of Retinal Degeneration - Page 7 disease. bassenkornzweig syndrome (Abetalipoproteinemia) RP and progressive neurologic problems are symptoms of this disease. Patients http://www.jwen.com/rp/ffb/ffb7.html

The Inheritance of Retinal Degenerations Page 7 Click for Table of Contents Isolated Cases When only one member of a family has a retinal degeneration, as we see in about 40 percent of families affected by RP, it is impossible to determine how the disease is inherited in that family. Nevertheless, to assess the risk of retinal degeneration occurring in other family members, it must be assumed that the disease is following one of the known inheritance patterns. Isolated cases of retinal degeneration most often represent autosomal recessive disease. Even though carrier parents have a 25 percent chance of having an affected child, there is still a 75 percent chance of having an unaffected child. So, it is often the case that there is only one child with a retinal degeneraUon in the family. Rarely, isolated cases of retinal degenerations represent new gene mutations. Retinal degenerations are caused by mutated genes that can pass through generations of a family. Occasionally, even when neither parent is affected nor carries an altered gene, one of the genes, usually in the egg or sperm, changes spontaneously from normal and becomes an altered gene, causing the disease in the child. New gene mutations most often represent the start of an autosomal dominant retinal degeneration, or when a ma is affected, either an autosomal dominant or X-linked retinal degeneration. Because a X-linked carrier female often shows mild effects of the altered gene, any mother of a male with an isolated case of retinal degeneration should be examined by an ophthalmologist to determine if she is a carrier.

45. Medical Encyclopedia Back to main Health Information page Disease bassen-kornzweig syndrome. Alternative Names abetalipoproteinemia, acanthocytosis http://www.georgetownuniversityhospital.org/body.cfm?id=18&action=display&articl

46. MUMS List Of Disorders - B Basal Encephalocele (1); Basal Ganglia Infarction (1); bassenkornzweig syndrome (Abetalipoproteinemia) (2) *; Bathing Suit Nevus (4 http://www.netnet.net/mums/mum_b.htm

Return to MUMS Home Page MUMS: List of Disorders B Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. B1A Predominent Cells or Fetal Cells (1) BOR Syndrome (Brachio-Oto-Renal Dysplasia) (7) Baller-Gerold Syndrome (Craniosynostosis-Radial Aplasia) (2) Band Heterotropia (12) Bannayan-Riley-Ruvalcaba Syndrome (8) Bannayan-Zonana Syndrome (4) Bardet-Biedl Syndrome (Laurence-Moon) (20) * http://home.talkcity.com/OceanBlvd/iamahawkfan/bardetbeidlsyndrome.html Barrett Esophagus (2) Barth Syndrome (Cardiomyopathy, Hypotonia, Low White Count) (4) www.barthsyndrome.org Basal Cell Carcinoma Syndrome (1) * Basal Cell Nevus Syndrome (1) * Basal Encephalocele (1) Basal Ganglia Infarction (1) Bassen-Kornzweig Syndrome (Abetalipoproteinemia) (2) * Bathing Suit Nevus (4) * Batten Disease (Ceroid Lipofuscinosis) (27) * Batten-Bielschowski-Jansky Disease (2) * Beals Syndrome (Contractural Arachnodactyly) (13) Beckwith-Wiedemann Syndrome (26) * Beckwith Wiedemann Family Forum Behavior Disorder (326) Behcet's Syndrome (1) * www.behcets.cc

47. MUMS List Of Disorders - A Migraines (2); Abdominal Teratoma Tumor (5); Abetalipoproteinemia (4) *; Abetalipoproteinemia (bassenkornzweig syndrome) (1) *; Absence of http://www.netnet.net/mums/mum_a.htm

Return to MUMS Home Page MUMS: List of Disorders A Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. 2 Hydroxic Gluteric Urea (1) 2 Keto Adepic Aciduria (1) 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) * 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1) 3 Methylglutaconic Aciduria (4) 4 Hydroxybutyric Aciduria (1) 4A Syndrome(Adrenocortical Insufficiency, Alacrima, Achalasia,Autonomic)(1) 5 Alpha Reductase Deficiency (1) * 5 Oxoprolinuria (Pyroglutamic Aciduria) (1) 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1) 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) ** ACTH Deficiency (1) AIDS (Acquired Immune Deficiency Syndrome) (6) ** Aarskog Syndrome (8) ** Abdominal Chylous Ascites (abdomen fills w/fluid) (4) Abdominal Migraines (2) Abdominal Teratoma Tumor (5) Abetalipoproteinemia (4) * Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) * Absence of Arm Below Elbow, Congenital (25) * Absence of Arms (Severed in accident) (2) * Absence of Arms, Hands attached to shoulder (1) *

48. Failure To Thrive - Medcohealth.com 1, ****bassenkornzweig syndrome bassen-kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the http://www.medcohealth.com/medco/consumer/ehealth/ehskeywordsearch.jsp?topicID=F

49. Retina Australia RP with possible physical abnormality, obesity, kidney disease and mental retardation. bassenkornzweig syndrome. - RP with progressive neurological problems. http://www.retinaaustralia.com.au/AssocConditions.htm

USHER SYNDROME Symptoms and Cause This genetic condition causes hearing loss from birth and progressive loss of sight due to retinitis pigmentosa (RP), which causes degeneration of the retina. Often the first symptom of RP is night blindness, followed by narrowing side vision leading to what is called "tunnel vision". Two types of Usher syndrome In Usher Syndrome Type 1, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life. People with this condition usually communicate by signing. This clearly can become more difficult as vision deteriorates. In Usher Syndrome Type 2, the hearing loss is more variable, ranging from mild to severe. Symptoms of RP usually develop from late adolescence to late twenties. Communication is enhanced in these people with hearing aids and lip reading. LARA'S STORY Lara has been diagnosed with Usher Syndrome Type 2. She is currently Co-ordinator of the Youth Group for Retina Australia Queensland Lara is currently studying meetings and events management, and is planning a career in media, focusing on motivational speaking.

50. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/B Syndrome@ (6); Barth Syndrome@ (2); Basal Ganglia Diseases@ (19); Basilar Migraine@ (4); bassenkornzweig syndrome@ (3); Batten Disease http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/B

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Conditions and Diseases B (0 links) Babesiosis Bacillary Angiomatosis Back Disorders Bad Breath ... Bursitis News about B [ More news about B Books about B Amazon.com's Price: Prices subject to change. Biology (6th Edition) by: Neil A. Campbell Jane B. Reece 11 December, 2001 List Price: Amazon.com's Price: You Save: Prices subject to change. The Mapmaker's Wife: A True Tale of Love, Murder, and Survival in the Amazon by: Robert Whitaker 13 April, 2004 Amazon.com's Price: Prices subject to change. by: Thomas B. Fitzpatrick Richard Johnson K. Wolff Richard Suurmond 07 December, 2000 Amazon.com's Price:

51. Asia Pacific J Clin Nutr (1992) 1, 249-251 Dische MR, Porro RS. The cardiac lesions in bassenkornzweig syndrome. macular atrophy and acanthocytosis (bassen-kornzweig syndrome). http://elecpress.monash.edu.au/APJCN/Vol1/Num4/14p249.htm

Asia Pacific J Clin Nutr (1992) 1, 249-251 CASE STUDY Localized myopathy in a young man with abetalipoproteinaemia-myocardial infarction? M.R. Levinson* FRACP, M.B. Higginbotham** FRACP and S.H. Quarfordt*** MD Department of Medicine, Duke University Medical Center, and Veterans Administration Medical Center, Durham, North Carolina 27710; USA *Assistant Director, Intensive Care Unit. Royal Melbourne Hospital; Recipient of an American Liver Foundation Postdoctoral Fellowship. **Cardiologist. Department of Medicine. Duke University Medical Center. Durham NC USA 27710. ***Director. Cooperative Lipid Laboratory. Veterans Administrative Medical Centre. Pluton Street. Durham NC USA 27705. Supported in part by the VA Research Service. Myocardial infarction has not previously been reported as a complication of abetalipoproteinaemia (ABL) We describe a case of probable asymptomatic myocardial infarction in a 24-year-old male with ABL and no previous cardiac history . Electrocardiographic and imaging evidence of the injury is presented.

52. New MRCOphth MCQs Format: Microbiology D. Wagner s syndrome E. Stickler s syndrome F. BardetBiedl syndrome G. Refsum s disease, H. Friedreich s ataxia I. bassen-kornzweig syndrome J. Usher s http://www.mrcophth.com/finalmrcophthmcqss/36.html

Test 36 (Matching Paper: Retina In response to considerable discussion the Examinations Committee of the College has decided to update the format of the Part 3 MRCOphth Examination from April, 2003. An extended matching paper will replace the existing MCQs and they will be no negative marking. The test will probably be easier than the previous format. To familiarize the candidates with the new formats, test 34 and onward will follow the new style as described below by the College. 40 questions over a 3-hour period. The questions will be divided as follows. 5 pathology questions 5 microbiology questions 15 general ophthalmology questions 15 Medicine and Neurology in relation to ophthalmology Extended matching questions are multiple choice items organized into sets that use one list of items in the set. The extended matching set includes four components 1.A theme 2.an option list 3.a lead in statement 4.at least four item stems, as illustrated below This will involve 40 questions (probably 200 stems) over a period of 3 hours. 1. Match the stem questions (a-d) with the options (A-N) listed below:

53. Search By Disease 22 Bartter syndrome, antenatal, type 2. 23 Basal cell nevus syndrome (BCNS). 24 bassenkornzweig syndrome. 25 Batten disease. 26 BBB syndrome. http://www.eddnal.com/directory/disease.php?letter=B&page=2

54. Gut -- Abstracts: Scott Et Al. 20 (2): 163 PAPERS. Hypobetalipoproteinaemiaa variant of the bassenkornzweig syndrome. BB Scott, JP Miller and MS Losowsky. A patient is reported http://gut.bmjjournals.com/cgi/content/abstract/20/2/163

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH GUT: [advanced] Author: Keyword(s): Year: Vol: Page: Email this link to a friend eLetters: Submit a response to this article Similar articles found in: Gut Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Scott, B. B. Losowsky, M. S. Alert me when: new articles cite this article Download to Citation Manager PAPERS Hypobetalipoproteinaemiaa variant of the Bassen-Kornzweig syndrome BB Scott, JP Miller and MS Losowsky A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results. This article has been cited by other articles: A. H. Dannoura, N. Berriot-Varoqueaux, P. Amati, V. Abadie, N. Verthier, J. Schmitz, J. R. Wetterau, M.-E. Samson-Bouma, and L. P. Aggerbeck

55. Gut -- Table Of Contents (20 [2]) Abstract. Hypobetalipoproteinaemiaa variant of the bassenkornzweig syndrome BB Scott, JP Miller, and MS Losowsky Gut 1979; 20 163-168. Abstract. http://gut.bmjjournals.com/content/vol20/issue2/index.shtml

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH TABLE OF CONTENTS QUICK SEARCH GUT: [advanced] Author: Keyword(s): Year: Vol: Page: Only Abstracts available for this issue Other Issues: February 1979 (Volume 20, Number 2). [Index by author] Find articles in this issue containing these words: [Search ALL Issues] To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Papers Pure pancreatic juice studies in normal subjects and patients with chronic pancreatitis ME Denyer and PB Cotton Gut 1979; 20: 89-97. Impaired pancreatic polypeptide release in chronic pancreatitis with steatorrhoea TE Adrian, HS Besterman, CN Mallinson, C Garalotis, and SR Bloom Gut 1979; 20: 98-101. [Abstract] Release of motilin by oral and intravenous nutrients in man ND Christofides, SR Bloom, HS Besterman, TE Adrian, and MA Ghatei Gut 1979; 20: 102-106. [Abstract] Intestinal absorption under the influence of vasopressin: studies in unanaesthetised rats R Dennhardt, B Lingelbach, and FJ Haberich

56. ´ëÇÑ¿µ»óÀÇÇÐȸ Abetalipoproteinemia, IowaClinic. bassenkornzweig syndrome / About abetaliproteinemia. Alternative Names, Definition, Causes, Incidence And Risk Factors. http://bbs.radiology.or.kr/link/category.asp?ID=D025

57. THE MERCK MANUAL, Sec. 14, Ch. 179, Disorders Of Movement Abetalipoproteinemia (bassenkornzweig syndrome, vitamin E deficiency) and Refsum s disease (phytanic acid storage diseasesee Ch. http://www.merck.com/mrkshared/mmanual/section14/chapter179/179g.jsp

58. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses syndromes. No treatment is required. ABETALIPOPROTEINEMIA (Acanthocytosis; bassenkornzweig syndrome). A rare congenital disorder usually http://www.merck.com/mrkshared/mmanual/section2/chapter16/16a.jsp

59. Avera Health - Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Prevention High http://www.avera.org/adam/ency/article/001666prv.htm

Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Prevention: High doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina and decreased vision. Review Date: 8/6/2003 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

60. Avera Health - Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.avera.org/adam/ency/article/001666sym.htm

Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Symptoms: Failure to thrive (grow) in infancy Fatty stools that appear pale in color Frothy stools Abnormally foul-smelling stools Protruding abdomen Developmental delay Poor muscle coordination that usually develops after age 10 Muscle weakness Slurred speech Curvature of spine Progressive decreased vision Balance and coordination difficulties Signs and tests: CBC (complete blood count) that shows abnormally shaped red blood cells (thorny appearance) Cholesterol studies, including total cholesterol that shows low levels of VLDL and LDL Stool collection that shows elevated fat levels Low levels of fat-soluble vitamins such as vitamins A, D, E, or K Ophthalmology exam showing retinal degeneration Absent or low apolipoprotein B levels in blood Genetic testing may be available for mutations in the APOB or MTP genes EMG or nerve conduction velocity testing may show demyelination of peripheral nerves Review Date: 8/6/2003 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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