61. Untitled Document The WernickeKorsakoff syndrome (WKS) is a combination of oculomotor abnormalities and mental and abetalipoproteinemia (bassen-kornzweig syndrome). http://www.akronchildrens.org/neuropathology/chapter8 files/chapter8main.html

CHAPTER EIGHT NUTRITIONAL CNS DISORDERS WERNICKE-KORSAKOFF SYNDROME The Wernicke-Korsakoff syndrome (WKS) is a combination of oculomotor abnormalities and mental symptoms seen in malnourished patients with vitamin B1 (thiamine) deficiency. It is most common in alcoholics, but affects also demented people who neglect their nutrition, and patients with gastric cancer, hyperemesis gravidarum, and other malnutrition settings. The classic clinical presentation is a triad of eye abnormalities (nystagmus, oculomotor paralysis, paralysis of conjugate gaze), ataxia of stance and gait, and mental symptoms , such as withdrawal, confusion, anterograde and retrograde amnesia with a tendency to fill gaps of memory with fabrications. Peripheral neuropathy (a form of Beri-Beri disease) is seen in 80 percent of patients. The syndrome may be partial and a high index of suspicion is essential for diagnosis, especially in debilitated patients with unexplained mental confusion. Administration of thiamine causes a rapid reversal of ophthalmoplegia within hours. Recovery from nystagmus and confusion is slower. Amnesia does not respond to treatment fully. The acute lesions of WKS consist of incomplete loss of neurons, loosening or vacuolization of the neuropil, and punctate hemorrhages.

62. PharmGKB: Abetalipoproteinemia Bassen Kornzweig Disease; Bassen Kornzweig Syndrome; BassenKornzweig Disease; Bassen-Kornzweig Diseases; bassen-kornzweig syndrome; Betalipoprotein http://www.pharmgkb.org/do/serve?objId=PA443222&objCls=Disease

63. ICD-9-CM From Code 270 Abetalipoproteinemia; bassenkornzweig syndrome; High-density lipoid deficiency; Hypoalphalipoproteinemia; Hypobetalipoproteinemia (familial) http://www.dmi.columbia.edu/hripcsak/icd9/1tabular270.html

OTHER METABOLIC AND IMMUNITY DISORDERS (270-279) 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) 270.3 Disturbances of branched-chain amino-acid metabolism Disturbances of metabolism of leucine, isoleucine, and valine Hypervalinemia Intermittent branched-chain ketonuria Leucine-induced hypoglycemia Leucinosis Maple syrup urine disease 270.4 Disturbances of sulphur-bearing amino-acid metabolism

64. List Of Eponymous Diseases: Information From Answers.com The best way to refer to a syndrome, then, was to refer to the person who first Basedow syndrome – Karl Adolph von Basedow; bassenkornzweig syndrome http://www.answers.com/topic/list-of-eponymous-diseases

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of eponymous diseases Wikipedia List of eponymous diseases A large number of diseases have been named after people . Most often, their namesakes discovered or described the disease, while occasionally the disease is named after the first patient described ( Christmas disease ) or the place where it was first identified ( Bornholm disease The proliferation of eponyms in medicine is partly due to the fact that until recently the exact cause of many diseases was a mystery. The best way to refer to a syndrome , then, was to refer to the person who first addressed its existence. There is controversy over the naming conventions for eponymous diseases. Many sources now agree that an apostrophe should be used if the disease is named after the patient, and no apostrophe if the disease is named after the physician (for example, Down syndrome ). However, older conventions are still commonly in use, and usage in practice is effectively random. Alphabetical list A Aarskog-Scott syndrome Dagfinn Aarskog Charles Scott Aase-Smith Jon Morton Aase David Weyhe Smith Abdallat-Davis-Farrage syndrome Adnan Al Abdallat S.M. Davis

65. Retinitis Pigmentosa - Questions bassenkornzweig syndrome (Abetalipoproteineinemia) RP accompanied by progressive neurological problems. Choroideremia This disease has symptoms similar http://www.rpsa.org.za/a34.htm

Is RP associated with other diseases? RP is just one type of group of inherited diseases that cause degeneration of the retina. Other types include rare syndromes that can usually be diagnosed at a Retinal Clinic. They are generally genetic and follow one of the 3 primary inheritance patterns as mentioned in Number 7. Some of these syndromes are:- Bardet-Biedl (Lawrence-Moon) Syndrome: RP possibly accompanied by physical abnormality, obesity, kidney disease and mental retardation. Bassen-Kornzweig Syndrome (Abetalipoproteineinemia): RP accompanied by progressive neurological problems. Choroideremia: This disease has symptoms similar to Retinitis Pigmentosa but degeneration of both the retina and the choroid occur. Gyrate Atrophy: This disease is associated with a deficiency in the enzyme ornithine Aminotransferase. Myopia, night blindness, cataracts and loss of peripheral vision occur. Leber Congenital Amaurosis: This is characterised by severe visual impairment from birth or very early childhood. Refsum Syndrome: This is a complex disease. Hearing loss, neurological problems, dry or flaky skin can accompany RP. Patients also have oddly shaped red blood cells.

66. Classification Of Leukodystrophy And Leukoencephaloencephalopathy Abetalipoproteinemia (bassenkornzweig syndrome). Mutation of alpha-tocopherol transport protein (alpha-TTP) (eg, Ataxia with vitamin E deficiency (AVED) http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNE2DD01.htm

Classification of Leukodystrophy and Leukoencephaloencephalopathy NeuroLearn NeuroHelp Leukodystrophy Definition Leukodystrophy is an umbrellar term that include diseases featured by defective formation and maintenance of myelin. The term leukodystrophy is usually reserved for disorders, often of metabolic origin, characterized by failure in maintenance of myelin. It is, however, a morphological term and not associated with a specific pathologic process or etiology. Leukoencephaly: Diseases of the brain affecting predominantly or exclusively white matter of the brain. Leukodystrophy: Leukoencephalopathy due to defective formation and maintenance of myelin in infants and children. Classification Leukodystrophies Head X-linked leukodystrophy Adrenoleukodystrophy Classic type Adrenomyeloneuropathy Pelizaeus-Merzbacher disease (sudanophilic leukodystrophy) Autosomal recessive Globoid cell leukodystrophy (Krabbe disease) Metachromatic leukodystrophy Canavan's disease (spongy degeneration of the brain) Cockayne's syndrome (probably autosomal recessive) Aicardi-Goutières syndrome Pattern of inheritance unknown Alexander’s disease Leukoencephalopath ies Head Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy) Binswanger's disease (subcortical arteriosclerotic encephalopathy) Disseminated necrotizing leukoencephalopathy

67. Rarelink.net - Diagnoselisten Bassen-Kornzweig Syndrom (Bassen BassenKornzweig syndrom (bassen-kornzweig syndrome) syndrome, Abetalipoproteinemia, Bassen-Kornzweig syndrom; Abetalipoproteinaemi, Abetalipoproteinemia. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=29&synonymId=80

68. Vitamin Deficiency In Gastric Bypass Abetalipoproteinemia (bassenkornzweig syndrome), due to the genetic absence of apolipoprotein B, causes serious fat malabsorption and steatorrhea, http://obesitysurgery-info.com/vitamins.htm

Vitamin Deficiency in gastric bypass/duodenalswitch-BPD back to Obesitysurgery-info.com Gastric bypass surgery bypasses the section of small bowel in which most vitamins are digested and absorbed. Also, as seen below in the excerpts taken from various medical sources, that stapling the stomach can have some repercussions as far as vitamin digestion. Vitamin A Calcium Vitamin B12 Vitamin E ... Iron Vitamin A Secondary vitamin A deficiency may be due to inadequate conversion of carotene to vitamin A or to interference with absorption, storage, or transport of vitamin A. Interference with absorption or storage is likely in celiac disease, sprue, cystic fibrosis, pancreatic disease, duodenal bypass , (gastric bypass bypasses the duodenum) congenital partial obstruction of the jejunum, obstruction of the bile ducts, giardiasis, and cirrhosis. Vitamin A deficiency is common in protein-energy malnutrition (marasmus or kwashiorkor), principally because the diet is deficient but also because vitamin A storage and transport are defective. Inadequate intake or utilization of vitamin A can cause impaired dark adaptation and night blindness; xerosis of the conjunctiva and cornea; xerophthalmia and keratomalacia; keratinization of lung, GI tract, and urinary tract epithelia; increased susceptibility to infections; and sometimes death. Follicular hyperkeratosis of the skin is common.

69. Ophthalmic Hyperguide. Oculoplastics: Ophthalmoplegia Plus Syndromes Abetalipoproteinemia (bassenkornzweig syndrome); Myasthenia gravis MRI of the brain in the Kearns-Sayre syndrome Report of four cases and a review http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/ophthalmoplegia_pl

Search: HELP Tutorial Introduction Mitochondrial Genetics Mitochondrial CPEO Kearns-Sayre Syndrome MELAS and MNGIE Diagnostic Considerations Bibliography Slides Ophthalmoplegia Plus Syndromes Janet Rucker, MD Introduction Neurologic, ophthalmologic, and systemic disorders with common chronic progressive external ophthalmoplegia (CPEO) have been identified. Chronic progressive external ophthalmoplegia may also occur in isolation of any other system involvement. To correctly diagnose the underlying disorder in a patient with CPEO, a baseline understanding of the common disorders and pathways to diagnosis is necessary. The term ophthalmoplegia plus was coined by David Drachman, MD, in 1968 and refers to disorders with abnormalities, often neurologic, in addition to CPEO. Knowledge of these disorders has increased significantly since then; however, overlap between clinical phenotypes and genetic defects for the most common causes of CPEO remains. Chronic progressive external ophthalmoplegia should be considered a sign of disease, rather than a disease. In addition to slowly progressive, bilateral, typically symmetric ocular immobility, bilateral ptosis is often present ( Slide 1 ). Mitochondrial myopathy is the most common cause of CPEO, but CPEO may be a component of other disorders that should be considered in the differential diagnosis (Table 1).

70. Ba : On Medical Dictionary Online Bassen Kornzweig Disease Bassen Kornzweig Syndrome BassenKornzweig Disease Bassen-Kornzweig Diseases bassen-kornzweig syndrome Bassia scoparia http://www.online-medical-dictionary.org/ba.asp?q=~Ba

71. MEEI-Berman-Gund Laboratory Usher syndrome, type I, type II and type III; LaurenceMoon-Bardet-Biedl syndrome; bassen-kornzweig syndrome; Refsum disease; Kearns-Sayre syndrome http://www.meei.harvard.edu/research/labs/bermang.php

Find a Disease/Condition Employment Contact Us Site Map The menu has downgraded. It is at the bottom of this page. home > research labs > The Berman-Gund Laboratory for the Study of Retinal Degenerations The Berman-Gund Laboratory for the Study of Retinal Degenerations, of Harvard Medical School, continues multidisciplined research on retinitis pigmentosa, macular degeneration, and other related degenerative diseases of the retina. Results from ocular examinations of more than 12,000 patients are in a computerized data bank that provides an unusual resource for research on these diseases. More than 6,000 blood samples are on file for molecular genetics research. Studies of Retinitis Pigmentosa and Macular Degeneration New! Findings Lead to Revised Therapeutic Regimen to Slow RP. The Laboratory is presently conducting research that includes: Performing new randomized controlled study to see if a medication in addition to vitamin A can further slow the course of the common forms of retinitis pigmentosa. Making a concentrated effort to isolate the genes responsible for retinal degenerations.

72. Journal Of Clinical Gastroenterology - UserLogin Onta Y. A case of abetalipoproteinemia (bassenkornzweig syndrome). Devos E, Demeester J. Abetalipoproteinemia or bassen-kornzweig syndrome. http://www.jcge.com/pt/re/jclngastro/fulltext.00004836-199804000-00012.htm

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73. International Ophthalmology Clinics - UserLogin Three forms are now amenable to treatment BassenKornzweig disease, changes in a case of a-beta-lipoproteinemia (bassen-kornzweig syndrome). http://www.internat-ophthalmology.com/pt/re/ioc/fulltext.00004397-200101000-0001

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74. Wernicke's Encephalopathy: Features can occur as a defect in abetalipoproteins as occurs in bassenkornzweig syndrome. Wernicke s encephalopathy, a neurological syndrome consisting of http://www.rashaduniversity.com/mrashad/werenfeat.html

Vitamin B1 (Thiamine) deficiency has been linked to the neurological syndrome of Wernicke's encephalopathy. This condition, although often associated with alcoholism, is a true nutritional deficiency causing neuropathological lesions in areas such as the thalamus, mammilliary bodies, and the periaqueductal areas. A polyneuropathy has also been linked to Vitamin B1 deficiency, especially in alcoholism. This deficiency at least plays a role in the development of this disease along with the possible neurotoxic role of alcohol. Niacin deficiency has been linked to pellagra. This condition, now quite rare, consists of nausea with vomiting, diarrhea, dermatitis, and cognitive decline such as irritability and memory loss. Vitamin B6 (pyridoxine) deficiency and excess has been associated with neurological disease. Both lead to a distal symmetrical polyneuropathy. A deficiency of B6 is commonly found in patient's taking INH-an anti-tuberculosis drug. INH inhibit's pyridoxine phosphorylation thereby decreasing the concentration of the active compound-pyridoxal phosphate. Excessive use of B6 leads to an excess of pyridoxine that competes with pyridoxal phosphate for binding sites on the enzyme.

75. RP - 7.3. Englisches Begriffssystem Der RP 1.2.2.2. abetalipoproteinemia, bassenkornzweig syndrome. 1.2.2.3. gyrate atrophy. 1.2.2.4. Refsum s disease, Refsum-syndrome. 1.2.2.5. Usher s syndrome http://www.fask.uni-mainz.de/user/feuerstein/rp/rp-7.3-2.html

7.3. Englisches Begriffssystem der RP retinal degenerative disease s, retinal/tapetoretinal degenerations 1.1. acquired forms macular degeneration s through exogenous factors age-related macular degeneration (AMD) 1.2. retinal/tapetoretinal dystrophies, hereditary retinal degenerations 1.2.1. macular dystrophies cystoid macular edema CME ), "wet" form of macular degeneration 1.2.2. retinitis pigmentosa (RP), pigment retinopathy , rod-cone dystrophy (RCD) cone-rod dystrophy (CRD) abetalipoproteinemia Bassen-Kornzweig syndrome 1.2.2.3. gyrate atrophy Refsum's disease Refsum-syndrome Usher's syndrome , Usher-syndrome (US) 1.2.2.5.1. Usher type I (USH1) 1.2.2.5.1.1. Usher type Ia (USH1a) 1.2.2.5.1.2. Usher type Ib (USH1b) 1.2.2.5.1.3. Usher type Ic (USH1C) 1.2.2.5.2. Usher type II (USH2) 1.2.2.5.2.1. Usher type IIa (USH2A) 1.2.2.5.2.2. Usher type IIb (USH2b) 1.2.2.5.3. Usher type III (USH3) 1.2.2.4. other syndromal forms of RP

76. Book Review starting and ending with a syndrome – abetalipoproteinemia (bassenkornzweig syndrome) as the first and Zollinger-Ellison syndrome as the last entry. http://www.cmj.hr/2000/4104/Book.htm

77. FIRSTConsult - Sdfdsf pigmentary retinopathy is progressive and develops before puberty * There are several subtypes * * bassenkornzweig syndrome * Spinocerebellar ataxia, http://www.firstconsult.com/?action=view_article&id=1014180&type=101&bref=1

78. 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. 16) share some clinical http://www.merck.com/mrkshared/mmanual/section14/chapter179/179g.jsp

79. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses (Acanthocytosis; bassenkornzweig syndrome). A rare congenital disorder usually transmitted as a recessive trait and characterized by the complete absence http://www.merck.com/mrkshared/mmanual/section2/chapter16/16a.jsp

80. Abetalipoproteinemia - Definition Of Abetalipoproteinemia In The Medical Diction retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called bassenkornzweig syndrome. 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 0.01 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.

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