61. Prep For USMLE Forums: Abetalipoproteinemia abetalipoproteinemia is a rare, autosomal recessive disorder in which there are abetalipoproteinemia (also known as BassenKornzweig syndrome) is an http://www.prep4usmle.com/forum/thread/3679

Prep for USMLE Forums Log in Register Prep for USMLE Forums ... Abetalipoproteinemia By asmi Author Message asmi Senior Member Topics: 1044 Posts: Can anybody tell me etilogy,sign and symptoms and treatment for abetalipoproteinemia . Posted: Jan 17, 04 - 16:04 Medicine Guy Junior Member Topics: 9 Posts: Hi i found this for you from harrisons textbook of medicine. Hope it helps you. This chapter focuses on the major lipid disorders, including both the dyslipoproteinemias caused by single-gene defects and the disorders that are likely to be multifactorial in origin. A practical approach is provided to assist in the identification, evaluation, and treatment of patients with increased risk of CHD. LIPID AND LIPOPROTEIN TRANSPORT LIPOPROTEIN STRUCTURE Lipoproteins have been classified on the basis of their densities into five major classes 1) chylomicrons, (2) very low density lipoproteins (VLDL), (3) intermediate-density lipoproteins (IDL), (4) LDL, and (5) high-density lipoproteins (HDL). APOLIPOPROTEINS The apolipoproteins (apos) provide structural stability to the lipoproteins and determine the metabolic fate of the particles upon which they reside. There are two forms of apo B¾apo B100 and apo B48. Apo B100 is the major apolipoprotein of VLDL, IDL, and LDL, comprising approximately 30, 60, and 95% of the protein in these lipoproteins, respectively. Apo B100 has a molecular mass of about 545 kDa and is synthesized in the liver. It is essential for the assembly and secretion of VLDL from the liver and is the ligand for the removal of LDL by the LDL receptor. The LDL receptor is a cell-surface protein that binds and internalizes lipoproteins that contain apo B100 or apo E. The LDL receptor binding domain of apo B100 is the sequence between amino acids 3200 and 3600, a region that is absent in apo B48.

62. Statesman.com abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Definition.BassenKornzweig syndrome is a rare, inherited disease characterized by the http://www.statesman.com/health/healthfd/shared/health/adam/ency/article/001666.

@import url(http://alt.coxnewsweb.com/statesman/css/display_template_more.css); /*Adds styles that break page in NN 4.78.*/ var cxType = ""; Home Page Site Map Search Last 7 Days ... Log in Search Site/Web Yellow Pages Classifieds Jobs Cars Homes ... Advertise With Us Resources Customer Service Archives Corrections Member Center ... For Sale E-MAIL THIS PAGE MOST E-MAILED ARTICLES Illustrated Health Encyclopedia Important notice Ency. home Disease B Bassen-Kornzweig syndrome Overview Symptoms Treatment Prevention Alternative names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Definition: Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Causes and Risks Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins (

63. Abetalipoproteinemia - Definition Of Abetalipoproteinemia In The Medical Diction Definition of abetalipoproteinemia in the Medical Dictionary and Thesaurus.abetalipoproteinemia explanation. Information about abetalipoproteinemia in Free http://medical-dictionary.thefreedictionary.com/abetalipoproteinemia

Domain='thefreedictionary.com' word='abetalipoproteinemia' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia abetalipoproteinemia Also found in: Dictionary/thesaurus Wikipedia 0.04 sec. Page tools Printer friendly Cite / link Email Feedback a·be·ta·lip·o·pro·tein·e·mi·a -b t -l p -pr t -n m , -t -n n. An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome Mentioned in No references found Medical browser Full browser Abell-Kendall method aberrant aberrant ductule aberrant goiter ... aberration abetalipoproteinemia ABFP ABG Abilify abiosis ... Aberystwyth Town F.C.

64. Glosario_Abetalipoproteinemia Translate this page Término, abetalipoproteinemia. Definición, La abetalipoproteinemia es unaenfermedad del tubo digestivo que se caracteriza por la ausencia de http://www.discapnet.com/Discapnet/Castellano/Glosario/A/Abetalipoproteinemia.ht

65. Rarelink.net - Diagnoselisten Abetalipoproteinemia Du er her Hjem Diagnoselisten abetalipoproteinemia BassenKornzweigsyndrom; Abetalipoproteinaemi, abetalipoproteinemia. http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=29

66. Rarelink.net - Diagnoselisten Abetalipoproteinemia (Bassen Du er her Hjem Diagnoselisten abetalipoproteinemia (BassenKornzweig syndrome) abetalipoproteinemia (Bassen-Kornzweig syndrome) http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=29&synonymId=80

67. ABETALIPOPROTEINEMIA Translate this page L’abetalipoproteinemia è una malattia autosomica recessiva caratterizzata Nell’abetalipoproteinemia, è possibile che i meccanismi che stanno alla base http://www.malattiemetaboliche.it/articoli/abetalipoproteinemia.htm

ABETALIPOPROTEINEMIA http://malattierare.pediatria.unipd.it/pubblicaMR/mr_frame.asp?mr=382 Sinonimi della Malattia DEFICIT DI APOLIPOPROTEINA B (CODICI) SINDROME DI BASSEN KORNZWEIG (CODICI) Definizione E’ una malattia da alterazione del metabolismo dei lipidi con ereditarietà autosomica recessiva caratterizzata dalla assenza quasi totale nel plasma delle apolipoproteine B e delle lipoproteine contenenti apo-B. E’ deficitaria o assente la proteina microsomiale che trasferisce i trigliceridi. Segni clinici e laboratoristici caratteristici sono: acantocitosi, ipocolesterolemia, neuropatia periferica, degenerazione dei cordoni posteriori, atassia e steatorrea. Può esserci anche insufficienza mentale. - Medline Thesaurus Segni e Sintomi E’ comune l’acantocitosi degli eritrociti. Gli acantociti rappresentano dal 50 al 100 per cento degli eritrociti circolanti. Non si riscontrano nel midollo spinale. La caratteristica patofisiologica fondamentale è il malassorbimento dei grassi. Di solito viene osservato nel periodo neonatale, con vomito, diarrea e di solito incapacità di aumentare peso. I sintomi intestinali si correlano direttamente con l’ammontare di grassi nella dieta e tende a diminuire con l’età. Malgrado l’incapacità del fegato di secernere VLDL, non sono frequenti alterazioni della funzionalità epatica.

68. Metabolic Ataxias abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferaseCerebrotendinous Xanthomatosis GammaGlutamyl Cysteine Synthetase Hartnup http://www.neuro.wustl.edu/neuromuscular/ataxia/metatax.html

Front Search Index Links ... Patient Info METABOLIC ATAXIAS Abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis ... Wilson's Disease General features Usually Autosomal Recessive Multisystem Involvement Dietary treatments often effective Hartnup l SLC6A19; Chromosome 5p15.33; Recessive SLC6A19 protein Na+-dependent amino acid transporter Transports neutral amino acids Biochemistry Clinical Features Rash: Photosensitive Ataxia: Intermittent Emotional Instability Treatment Nicotinamide: 25 mg/day Maple Syrup Urine Disease (Intermittent Form) l Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Chromosome 19q13.2 Protein: Branched-chain alpha-keto dehydrogenase complex Mitochondrial Catalyzes overall conversion of alpha-keto acids to acyl-CoA and CO Clinical Features Intermittent events: Ataxia, Drowsiness, Seizures Onset during 2nd year Attacks after infection, surgery, high protein Patients without therapy Mental retardation Extrapyramidal: Dystonia; Athetosis; Dysarthria Tetraplegia Ophthalmoplegia Subclinical neuropathy: Mildly slow sural SNAPs Acute axonal neuropathy: Adult; ? Specific mutation

69. Disease - Bassen-Kornzweig Syndrome - Detroit, Michigan abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Causes And Risk.BassenKornzweig syndrome is an autosomal recessive inherited disorder http://www.henryfordhealth.org/12693.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Bassen-Kornzweig syndrome Definition: Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Causes And Risk: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood).

70. Abetalipoproteinemia - Diseases And Conditions | FindYourHope.com SIERE (Sistema de Información sobre Enfermedades Raras en Español) Translate this page abetalipoproteinemia, Instituto de Salud Carlos III La abetalipoproteinemiaes una enfermedad del tubo digestivo que se caracteriza por la ausencia de http://www.findyourhope.com/Site/Abetalipoproteinemia/Type/Diseases And Conditio

SEARCH Home Diseases And Conditions Abetalipoproteinemia Control Panel FREE Abetalipoproteinemia Newsletter Health Discussion Forum Send This Page To A Friend Bookmark This Page ... Submit your article MENU Diseases And Conditions Medications Tests And Procedures Anatomy ... Our Sites Term Of The Day E. coli Our Sponsor Resources MUMS National Parent-to-Parent Network Read More Resources Page Last Updated: 9/8/2005 12:00:00 AM Digital Abstract We subscribe to the HONcode principles. Verify here

71. Hormone Changes During The Menstrual Cycle In Abetalipoproteinemia: Reduced Lute Hormone Changes during the Menstrual Cycle in abetalipoproteinemia Reduced LutealPhase Progesterone in a Patient with Homozygous Hypobetalipoproteinemia http://www.pnas.org/cgi/content/abstract/79/21/6685

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Illingworth, D. R. Articles by Keenan, E. J. November 1, 1982 Hormone Changes during the Menstrual Cycle in Abetalipoproteinemia: Reduced Luteal Phase Progesterone in a Patient with Homozygous Hypobetalipoproteinemia D. Roger Illingworth, Debra K. Corbin, Elaine D. Kemp, and Edward J. Keenan This article has been cited by other articles in HighWire Press -hosted journals: A. Rigotti, H. E. Miettinen, and M. Krieger The Role of the High-Density Lipoprotein Receptor SR-BI in the Lipid Metabolism of Endocrine and Other Tissues Endocr. Rev., June 1, 2003; 24(3): 357 - 387. [Abstract] [Full Text] [PDF] T. Ishii, T. Hasegawa, C.-I Pai, N. Yvgi-Ohana, R. Timberg, L. Zhao, G. Majdic, B.-c. Chung, J. Orly, and K. L. Parker The Roles of Circulating High-Density Lipoproteins and Trophic Hormones in the Phenotype of Knockout Mice Lacking the Steroidogenic Acute Regulatory Protein Mol. Endocrinol., October 1, 2002; 16(10): 2297 - 2309.

72. Abetalipoproteinemia Rarelink.net Diagnoslistan abetalipoproteinemiaDu är här Hem Diagnoslistan abetalipoproteinemia Bassen-Kornzweig syndrom;Abetalipoproteinaemi, abetalipoproteinemia. http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Genetic Diseases- Metabolic Abetalipoproteinemia Abetalipoproteinemia is a rare recessive disease that interferes with fat digestion. Abetalipoproteinemia What does abetalipoproteinemia mean? Abetalipoproteinemia is a deficiency of fat digestion. Another name for the disease is Bassen-Kornzweig syndrome. Patients might also hear it called "acanthocytosis". Insufficient fat intake leads to mental and physical deterioration. I thought that fat is bad(?) Too much fat is bad, but since fats have beneficial roles as insulators, some is needed for normal function of the nerves, brain , and other organs. Why wouldn't someone be able to digest fats? Abetalipoproteinemia occurs when the person is born with mutations in either the apoliprotein B gene or the microsomal triglyceride transfer protein gene. The defect results in little or no production of lipoproteins. What is a lipoprotein? Lipoproteins are metabolically-active molecules that consist of both fat and protein to transport it. A familiar lipoprotein is LDL ("bad

73. Rarelink.net - Diagnoslistan Abetalipoproteinemia Du är här Hem Diagnoslistan abetalipoproteinemia (Abetalipoproteinaemi) BassenKornzweig syndrom; Abetalipoproteinaemi, abetalipoproteinemia. http://www.rarelink.se/diagnosedetail.jsp?diagnoseId=29&synonymId=79

74. Rarelink.net - Diagnoselisten Bassen-Kornzweig Syndrom Apolipoprotein B deficiency; BassenKornzweig syndrome, abetalipoproteinemia,Bassen-Kornzweig syndrom; Abetalipoproteinaemi, abetalipoproteinemia. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=29

75. All Showcase - Abetalipoproteinemia www.ciencia.net/VerArticulo/abetalipoproteinemia?i www.webstersonline-dictionary.org/definition/tran www.websters-online-dictionary.org/definition/engl Discapacidad en Uruguay - Translate this page La abetalipoproteinemia es una enfermedad del tubo digestivo que se caracterizapor la ausencia de lipoproteínas de muy baja densidad (VLDL) y de http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/A/Abetalip

All Showcase Abetalipoproteinemia List of Abetalipoproteinemia information, links and web resources. Discount Shopping Collectibles Coupons Clickbank ... Advertise Search for: All Showcase This Category Calendars Nutritional Supplements Musical Instruments Fiber Optics ... A » Abetalipoproteinemia Aktiv Search Web News Shopping ... Images Abetalipoproteinemia All Showcase people involved in abetalipoproteinemia we are people who have this disorder annd /or family involved. group help with information, support and investigation Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. WebMD/Lycos A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. Top Listing to Business Affiliate about business mlm debt loans ... shop Find Amazon products about Abetalipoproteinemia Books, magazines, music, softwares, video, DVD... about Abetalipoproteinemia Search Amazon.co.uk about

76. Abetalipoproteinemia - Wikipedia abetalipoproteinemia http://es.wikipedia.org/wiki/Abetalipoproteinemia

Wikimedia necesita de tu ayuda en su campa±a para recolectar USD$ 200.000 . V©ase nuestra p¡gina de recolecci³n de fondos para m¡s detalles. Abetalipoproteinemia De Wikipedia, la enciclopedia libre. Sin³nimos S­ndrome de Bassen Kornzweig S­ndrome de Lipoprote­na Beta de Baja Densidad Carencia de Lipoprote­na C³digo CIE-9 OMIM La Abetalipoproteinemia es una rara enfermedad que afecta al tracto digestivo , cuya principal caracter­stica es la incapacidad que tiene el organismo de absorber adecuadamente los componentes grasos del alimento a trav©s del intestino, lo que tiene como consecuencia la producci³n de heces grasosas (esteatorrea), deficiencia en el desarrollo infantil y problemas en los nervios. Tabla de contenidos Etiolog­a S­ntomas Diagn³stico Tratamiento ... editar Etiolog­a Esta enfermedad es de or­gen gen©tico, provandose la existencia de una mutaci³n en uno de estos dos genes en los pacientes: apolipoprote­na B (APOB) o prote­na de transferencia de triglic©rido micros³mico (MTP). Esta enfermedad afecta a ambos sexos, sin embargo es m¡s frecuente en los hombres, llegando estos a representar el 70% de los casos. La mutaci³n ocasiona que el organismo sea incapaz de producir lipoprote­nas (entre las que se incluyen lipoprote­nas de baja densidad (LDL) y lipoprote­nas de muy baja densidad (VLDL)), adem¡s de

77. Health Encyclopedia - Evanston Northwestern Healthcare Alternative Names . abetalipoproteinemia; Acanthocytosis; Apolipoprotein Bdeficiency. Causes, incidence, and risk factors . BassenKornzweig syndrome is http://www.enh.org/healthandwellness/encyclopedia/ency/article/001666.asp

@import "/styles.css"; @import "/small.css"; Skip Navigation Clinical Services Health Encyclopedia Find a Doctor ... Students Section Links Health Encyclopedia Disease Reference Injury Reference Test Reference ... Decrease Font Bassen-Kornzweig syndrome Definition : Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Alternative Names : Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Causes, incidence, and risk factors : Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins (

78. DICCIONARIO ILUSTRADO DE TÉRMINOS MEDICOS Translate this page abetalipoproteinemia una rara enfermedad autosómica recesiva, de presentacióninfantil caracterizada por la ausencia casi total de producción de http://www.iqb.es/diccio/a/aa.htm

Aa-Abuso A B C D ... Z A-4166: derivado de fenilalanina que actúa como estimulante de la secreción de insulina. En fase de evaluación clínica. ( A-46: símbolo de una proteína hallada en el tejido cerebral de los pacientes con enfermedad de Alzheimer. Se encuentra también en los cerebros normales en desarrollo de fetos y de niños, pero empieza a desaparecer a la edad de 2 años AARON Charles ): médico norteamericano, conocido por su signo (signo de Aarón: sensación de dolor en el epigastrio o región precordial por presión en el punto de Mac Burney en el apendicitis) A bacavir: fármaco antivírico, que actúa inhibiendo la transcriptasa reversa del virus HIV. ( Abacteremia: ausencia de bacterias en la sangre. Abalienación: desarreglo mental, insania. Abamectina: Streptomyces avermitilis Abandono: renuncia, deserción. Cese unilateral por parte del profesional de la salud de su relación con un paciente, sin previo aviso razonable para este último cuando sigue existiendo la necesidad de sus servicios profesionales. Abandono de un lactante o niño [ICD-10: T74.0]

79. Arch Neurol -- Abstract: Abetalipoproteinemia And Metastatic Spinal Cord Gliobla abetalipoproteinemia (ABL BassenKornzweig syndrome) is characterized by markedhypolipidemia with absence of low-density lipoproteins, fat-soluble http://archneur.ama-assn.org/cgi/content/abstract/41/5/554

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 41 No. 5, May 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Newman RP Oldfield EH Contact me when this article is cited Abetalipoproteinemia and metastatic spinal cord glioblastoma R. P. Newman, E. J. Schaefer, C. B. Thomas and E. H. Oldfield Abetalipoproteinemia (ABL [Bassen-Kornzweig syndrome]) is characterized by marked hypolipidemia with absence of low-density lipoproteins, fat-soluble vitamin deficiency, spinocerebellar ataxia, and retinitis pigmentosa. Our patient had ABL, severe neurologic disease, and spinal cord malignancy, as well as disseminated CNS and extraneural metastases. It is possible that patients with this disorder and long-standing fat-soluble vitamin deficiency may have increased risk for CNS malignancy.

80. Arch Neurol -- Abstract: Abetalipoproteinemia. Report Of Two Cases And Review Of Knockout of the abetalipoproteinemia gene in mice Reduced lipoprotein secretionin heterozygotes and embryonic lethality in homozygotes Raabe et al. http://archneur.ama-assn.org/cgi/content/abstract/37/10/659

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 37 No. 10, October 1980 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Illingworth DR Miller RG Articles that cite this article Contact me when this article is cited Abetalipoproteinemia. Report of two cases and review of therapy D. R. Illingworth, W. E. Connor and R. G. Miller The clinical presentation and course of abetalipoproteinemia in two male patients, a child and an adult, are described. Apoprotein B was absent in blood smear. Family studies revealed normal lipid profiles in the parents of both patients, which is consistent with the usual autosomal recessive inheritance of this disorder. In addition to a low-fat diet, both patients

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