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         Bassen-kornzweig Syndrome:     more detail
  1. Bassen-Kornzweig syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005

41. Rarelink.net - Diagnoselisten Abetalipoproteinemia (Bassen
Abetalipoproteinemia (bassenkornzweig syndrome) syndrome, Abetalipoproteinemia, Bassen-Kornzweig syndrom; Abetalipoproteinaemi, Abetalipoproteinemia.
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=29&synonymId=80

42. The EyePathologist Disease - B
bassenkornzweig syndrome - Elliott, Alexandra; Florakis, George J.; Vrabec, Michael P. Batten disease - Klintworth, Gordon K.
http://www.eyepathologist.com/LIST.ASP?Title=B

43. Free Online ICD9/ICD9CM Codes And Medical Dictionary
bassenkornzweig syndrome (abetalipoproteinemia) 272.5. Bat ear 744.29. Bateman s. 2 subitems. Bathing cramp 994.1. Bathophobia 300.23
http://icd9cm.chrisendres.com/index.php?action=alphaletter&letter=Bi

44. United States Patent Application 0030050316
Two other diseases have similar symptoms bassenkornzweig syndrome (abeta-lipoproteinemia and vitamin E deficiency) and Refsom s disease (phytanic acid
http://appft1.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&p=1&u=/netaht

45. Medisurf - Medisurf's Categories
bassenkornzweig syndrome / About abetaliproteinemia. Alternative Names, Definition, Causes, Incidence And Risk Factors
http://www.medisurf.com/Category/category.asp?GENE_NO=D025

46. Entrez PubMed
A patient is reported with hypobetalipoproteinaemia and clinical features resembling the BassenKorn
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4

47. Entrez PubMed
A constellation of histologic abnormalities was demonstrated in the quadriceps femoris muscle of a 2
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2

48. Search By Disease
Basal cell nevus syndrome (BCNS). 27, bassenkornzweig syndrome. 28, Batten disease. 29, BBB syndrome. 30, BCR-ABL in CML / AML
http://www.eddnal.com/directory/disease.php?letter=B&page=2

49. New MRCOphth MCQs Format: Microbiology
I. bassenkornzweig syndrome J. Usher s syndrome K. gyrate atrophy L. birdshot retinopathy M. punctate inner choriopathy N. Stargardt s disease
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:

50. Abetalipoproteinaemia
Abetalipoproteinaemia (bassenkornzweig syndrome). c. Why does he have problem with night vision and what other ocular signs may be present?
http://www.mrcophth.com/pd/abea.htm
Medical Ophthalmology: Case eleven
This is the blood film of a young man who suffers from poor night vision. In addition, he has a learning difficulty and problem with balance. a. What does the blood film show?
Acanthocytosis. These are spiky red blood cells caused by membrane abnormalities.
b. What is the diagnosis? Abetalipoproteinaemia (Bassen-Kornzweig syndrome)
c. Why does he have problem with night vision and what other
ocular signs may be present?
The poor night vision is caused by pigmentary retinopathy which is similar in appearance to retinitis pigmentosa. Other possible ocular signs include:
  • ocular motor abnormalities such as
    • - slow saccade movement
      - internuclear ophthalmoplegia
      - external ophthalmoplegia
  • ptosis ; which typically occurs in the abducting eye

d. What is the pathophysiology of this condition? It is an autosomal recessive disorder in which there is impaired intestinal absorption of lipids and lipid-soluble vitamins (A, E and K). In the plasma, there is an absence of beta (low density) lipoprotein and hence the name abetalipoproteinaemia. The vitamin E deficiency causes cerebellar degeneration and demyelination of neurones giving rise to neurological signs which include ataxia, areflexia and poor vibratory sensation. The retinopathy is thought to be partly caused by vitamin A deficiency.

51. Penn State Faculty Research Expertise Database (FRED)
Apolipoprotein B Deficiency Disease, bassenkornzweig syndrome. Betalipoprotein Deficiency Disease Bassen Kornzweig Syndrome, Bassen-Kornzweig Diseases
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D000012

52. 200100 ABETALIPOPROTEINEMIA; ABL
bassenkornzweig syndrome APOLIPOPROTEIN B DEFICIENCY MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY MTP DEFICIENCY
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:200100] -e

53. 200150 CHOREOACANTHOCYTOSIS; CHAC
Neuroacanthocytosis was also considered inappropriate because it might include the bassenkornzweig syndrome (200100). Jankovic et al.
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:200150] -e

54. Disease, Medication, Symptom Etc Database Index : B Diseases Database
bassenkornzweig syndrome see Abetalipoproteinaemia Batimastat Batten-Mayou disease see Ceroid lipofuscinosis, neuronal 3, juvenile
http://www.diseasesdatabase.com/disease_index_b.asp
Diseases Database Index Sponsors Contact ... Previous Page
Disease, medication, symptom etc database index : B
Search
B type natriuretic peptide

Babanki virus see Sindbis virus
Babesia microti see Babesiosis
Babesiosis

Baby bottle tooth decay

Bacampicillin
...
Bacillary dysentery

Bacillary epithelioid angiomatosis see Cat scratch fever
Bacille Calmette-Guerin see BCG
Bacillus abortus
Bacillus anthracis see Anthrax Bacillus cereus Bacillus licheniformis Bacillus subtilis ... Bacitracin Back ache see Back pain Back pain Backache see Back pain Baclofen Bacteria and bacterial disease Bacterial infectious disease see Bacteria and bacterial disease Bacterial overgrowth of small intestine Bacterium see Bacteria and bacterial disease Bacterium mirabilis see Proteus Bacteroides Bacteroides forsythus Bad breath see Halitosis BADS syndrome see Black locks, oculocutaneous albinism, and deafness of the sensorineural type Bagasse workers' lung see Bagassosis Bagassosis Bahima disease Baillarger's syndrome see Frey's syndrome Bairnsdale ulcer see Mycobacterium ulcerans Baker's cyst of knee (and rupture) Baker-Winegrad disease see Fructose-1, 6-diphosphatase deficiency

55. Abetalipoproteinaemia Information Diseases Database
bassenkornzweig syndrome aka/or Betalipoprotein deficiency disease. may cause or feature + (Follow link for list.) may be allelic with + (Follow link for
http://www.diseasesdatabase.com/ddb17.htm
Diseases Database Index Sponsors Contact ... Previous Page
Abetalipoproteinaemia information
Search
5 synonyms or equivalents were found. Abetalipoproteinaemia
aka/or
Abetalipoproteinemia
aka/or
ApoB deficiency
aka/or
Bassen-Kornzweig syndrome
aka/or
Betalipoprotein deficiency disease Abetalipoproteinaemia: Definition(s) via UMLS Code translations and terms via UMLS Abetalipoproteinaemia: specific web sites Send Abetalipoproteinaemia to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these:
Search using Internet medical databases
Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-08 22:29:39 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

56. Density Hetastarch - OmniMedicalSearch.com - Density Hetastarch
bassenkornzweig syndrome bassen-kornzweig syndrome HealthCentral. 7. Telemammography Using Statellite Communications Also available In HealthFinder.gov
http://www.omnimedicalsearch.com/sr_density_hetastarch.html

Acronym Search
Associations Dictionary Journals ... BookMark All Engines Basic Search MedPro Search CDC HealthCentral HealthFinder.gov Healthopedia Nat'l Cancer Institute NHSDirect Pubmed Central WebMD All Words Any Words Download our Bottom-Side Medical Toolbar or FireFox Plugin
We search the following medical databases to bring you the best results: MedPro Basic Search Results For " density hetastarch "
(Showing 1 to 20 of 80) Prev Next Get the latest health and medical news about "density hetastarch"
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... Cholesterol Information for Patients and General Public
HealthFinder.gov Impairment of selectin-mediated leukocyte adhesion to venular endothelium in spontaneously hypertensive rats.
Suematsu M, Suzuki H, Tamatani T, Iigou Y, DeLano FA, Miyasaka M, Forrest MJ, Kannagi R, Zweifach BW, Ishimura Y. J Clin Invest. 1995 Oct; 96(4)
Pubmed Central Encyclopaedia Topic : DEXA scan, Section : Why it is necessary
Encyclopaedia Topic : DEXA scan, Section : Why it is necessary
NHSDirect Familial hypercholesterolemia
Familial hypercholesterolemia HealthCentral Falls and Related Fractures: The Risk of Undiagnosed Osteoporosis If you have CHD, that's the bad news. But the good news is that by lowering your cholesterol you can reduce your risk of having a heart attack. These booklets were written to help you make healthy...

57. Squamous Cell Carcinoma - OmniMedicalSearch.com - Squamous Cell Carcinoma
bassenkornzweig syndrome bassen-kornzweig syndrome HealthCentral. 10. Skin Cancer and Sun Exposure - From the Cleveland Clinic
http://www.omnimedicalsearch.com/sr_squamous_cell_carcinoma.html

Acronym Search
Associations Dictionary Journals ... BookMark All Engines Basic Search MedPro Search CDC HealthCentral HealthFinder.gov Healthopedia Nat'l Cancer Institute NHSDirect Pubmed Central WebMD All Words Any Words Download our Bottom-Side Medical Toolbar or FireFox Plugin
We search the following medical databases to bring you the best results: MedPro Basic Search Results For " squamous cell carcinoma "
(Showing 1 to 20 of 108) Prev Next Get the latest health and medical news about "squamous cell carcinoma"
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... Skin Cancer and Sun Exposure - From the...
Skin Cancer and Sun Exposure - From the Cleveland Clinic
WebMD Healthopedia.com - Metastasis
There are a few cancers that rarely spread. These include primary brain tumors and basal cell or squamous cell carcinoma of the skin. ... http://www.healthopedia.com/metastasis/
Healthopedia ABCD’s of Skin Cancer
HealthFinder.gov Imiquimod, a Patient-Applied Immune-Response Modifier for Treatment of External Genital Warts.
Beutner KR, Tyring SK, Trofatter KF Jr, Douglas JM Jr, Spruance S, Owens ML, Fox TL, Hougham AJ, Schmitt KA. Antimicrob Agents Chemother. 1998 Apr; 42(4) Pubmed Central BestTreatments :: Conditions :: Skin cancer ( squamous cell ) :: What are the symptoms?

58. MUMS List Of Disorders - B
B1A Predominent Cells or Fetal Cells (1); BOR Syndrome (BrachioOto-Renal bassen-kornzweig 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 (11)
  • 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

59. MUMS List Of Disorders - A
Abetalipoproteinemia (bassenkornzweig syndrome) (1) *; Absence of Arm Hand, Congenital (Hemimelia-elbow down) (25) *; Absence of Arm Below Elbow,
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) *

60. OTHER METABOLIC AND IMMUNITY DISORDERS
bassenkornzweig syndrome High-density lipoid deficiency Hypoalphalipoproteinemia Hypobetalipoproteinemia (familial)
http://www.thera.info/icd9-cm/sect-270-279.html
OTHER METABOLIC AND IMMUNITY DISORDERS (270-279)
Disorders of amino-acid transport and metabolism
Disorders of carbohydrate transport and metabolism

Disorders of lipoid metabolism

Disorders of plasma protein metabolism
...
Disorders involving the immune mechanism

Use additional code to identify any associated mental retardation
270 Disorders of amino-acid transport and metabolism
Excludes: abnormal findings without manifest disease (790.0-796.9)
disorders of purine and pyrimidine metabolism (277.1-277.2)
gout (274.0-274.9)
270.0 Disturbances of amino-acid transport
Cystinosis
Cystinuria
Fanconi (-de Toni) (-Debré) syndrome
Glycinuria (renal) Hartnup disease
270.1 Phenylketonuria [PKU]
Hyperphenylalaninemia
270.2 Other disturbances of aromatic amino-acid metabolism
Albinism Alkaptonuria Alkaptonuric ochronosis Disturbances of metabolism of tyrosine and tryptophan Homogentisic acid defects Hydroxykynureninuria Hypertyrosinemia Indicanuria Kynureninase defects Oasthouse urine disease Ochronosis Tyrosinosis Tyrosinuria Waardenburg syndrome Excludes: vitamin B6-deficiency syndrome (266.1)

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