Malaysia Medical Association Malaysian Medical Association. Back . cerebrotendinous xanthomatosis withCholestanolaemia Involvement of Five Individuals in a Malay Family http://www.mma.org.my/info/4_original_90.htm
Extractions: Nor Hayati Othman, MPath, Sabariah Abdul Rahman, MPath, Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan Summary Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia. Key Words : Cerebrotendinous Xanthomatosis, Cholestanolaemia, Involvement of Five Individuals in a Malay Family Zulfiqar Annuar, MMed*, Abdul Samad Sakijan, FRCR*, Norizan Annuar, DCP**, Goon Hong Kooi, FRACS***, *Departments of Radiology, **Pathology and ***Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur Summary Ultrasound examinations were done to evaluate clinically palpable abdominal masses in 125 children. The examinations were normal in 21 patients. In 15 patients, the clinically palpable masses were actually anterior abdominal wall abscesses or hematomas. Final diagnosis was available in 87 of 89 patients with intraabdominal masses detected on ultrasound. The majority (71%) were retroperitoneal masses where two-thirds were of renal origin. Ultrasound diagnosis was correct in 68 patients (78%). All cases of hydronephrosis were correctly diagnosed based on characteristic ultrasound appearances. Correct diagnoses of all cases of adrenal hematoma, psoas abscess, liver hematoma, liver abscess and one case of liver metastases were achieved with correlation of relevant clinical information.
Dorlands Medical Dictionary knees, and heels, which occurs in association with certain types of hyperlipoproteinemia,tuberous xanthoma, xanthelasma, and cerebrotendinous xanthomatosis. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Extractions: Benign fibrohistiocytoma (xanthomatous variant) of the acromion. A case report and review of the literature. Macdonald D, Fornasier V, Holtby R. Arch Pathol Lab Med 2002 May;126(5):599-601Abstract quote A number of fibrous lesions involving bone display almost identical histologic appearances yet may represent either reactive or neoplastic conditions, resulting in a confusing nomenclature and possible diagnostic confusion. We report the case of a young man with no significant previous medical history who presented with a painful lesion in the left shoulder, which consisted almost entirely of xanthomatous material. We discuss the possible differential diagnosis of this lesion and why benign fibrous histiocytoma is the preferred terminology for this lesion.
NMC Diagnosis cerebrotendinous xanthomatosis. Berginer VM, Salen G, Shefer S. Longtermtreatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. http://web.kanazawa-u.ac.jp/~med23/NMC/CaseKI01/CaseKI01diag.html
Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesNutrition and Metabolism DisordersCholesterol andOther Fatscerebrotendinous xanthomatosis A Case of Cerebrotendinous http://www.medicalseek.net/Conditions_and_Diseases_Nutrition_and_Metabolism_Diso
Extractions: INBORN ERRORS In 1982 the recorded number of human disorders inherited in simple mendelian fashion/caused by a mutant single gene amounts to 3,368 [McKusic, V.A., 'Mendelian Inheritance in Man', 6th ed.,Johns Hopkins Univ. Press, Baltimore, 1983] The clinical effects of the inborn errors of metabolism vary from lethality in utero or in early postnatal life, to very severe handicap [Tay-Sachs disease, Hurler's syndrome, homozzygous talassemia, Lesch-Nyan syndrome, Duchenne muscular dystrophy, Huntington's disease, etc.], to restricted life expectancy , to harmlessness. For most inborn errors, therapy is virtually nonexistent, at present. 'Of about 120,000 US babies born each year with a birth defect, 8,000 die during their first year of life......birth defects are the fifth-leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disability.' http://www.cdc.gov/nceh/cddh/BD/bdpghome.htm Most frequent clinical features of inborn diseases Apathy, ataxia
Cerebrotendinous Xanthomatosis cerebrotendinous xanthomatosis cerebrotendinous xanthomatosis CTX http//www.ulf.orgSymptoms presented with this disease, the diagnosis and the treatment. http://www.medlina.com/cerebrotendinous_xanthomatosis.htm
Extractions: One hundred and twenty five cases of clinically diagnosed allergic contact dermatitis were studied. All patients were subjected to patch test with standard test allergens and also with suspected test allergens based on history and clinical profile. Allergic contact dermatitis due to Parthenium hysterophorus was commonest and found in 64% cases, followed by wearing apparel and jewellery in 16.8%, topical medicaments in 8% and cosmetics and occupational contactants in 5.6% cases each. The common individual allergens other than parthenium, were nickel in 8.8%, leather, hair dye and cement in 3.2% each, nitrofurazone and petrol, oil, lubricant (POL) in 2.4% each. Patch test with suspected allergens was positive in 72% of cases. Pradip Kumar Keshri, Ashok Pathak, H K Kar, T R D Sinha
Extractions: level=2 length=27 scatter=19.0535 sval^2=2.44955 [ratio 7.77836] (Parent: length=51 scatter=44.0813 sval^2=5.77909) (ratio 7.62772) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child) This node's top (Node-8) This node's Contents This node's Principal Direction This node's Centroid ... 16 (right child)
Extractions: level=1 length=51 scatter=44.0813 sval^2=5.77909 [ratio 7.62772] (Parent: length=96 scatter=94.6945 sval^2=16.9777) (ratio 5.5776) This node's top (Node-4) This node's Contents This node's Principal Direction This node's Centroid ... 8 (right child) This node's top (Node-4) This node's Contents This node's Principal Direction This node's Centroid ... 8 (right child) This node's top (Node-4) This node's Contents This node's Principal Direction This node's Centroid ... 8 (right child) This node's top (Node-4) This node's Contents This node's Principal Direction This node's Centroid ... 8 (right child)
Leukodystrophy A lack of the enzyme arylsulfatase A leads to a build up of sulfatides,a. cerebrotendinous xanthomatosis. admin. 4/16/02 24755 PM. http://www.the-morgan-project.org/leukodystrophy.htm
Extractions: The M .O.R.G.A.N. Project, Inc. est. 2001 M aking O pportunities R eality G ranting A ssistance N ationwide caring FOR them ... learning FROM them Home Welcome! About Us Our Mission ... Links Leukodystrophy WHAT IS LEUKODYSTROPHY? Leukodystrophy is the name given to a group of inherited, progressive genetic disorders. The name comes from the Greek 'leuko', meaning "white" and 'dystrophy' meaning "imperfect growth or development". The nerves in the human body are composed of two parts; the innermost section is called the axon, and is directly responsible for conveying nerve impulses from the brain. Surrounding the axon, rather like insulation around an electrical cord, is the myelin sheath, or 'white matter'. The sheath is made up of a variety of chemicals, and its protective covering is vital to the health and function of the nerve axon within. In Leukodystrophy, a mutation in one of the patient's genes affects the development of one of the multiple chemicals (there are at least 10) that make up the myelin sheath, preventing or inhibiting its development. Without this natural protection the nerve axons are unable to function correctly. Each form of Leukodystrophy affects a different element of the myelin sheath, causing a range of symptoms and affecting different parts of the nervous system, such as the spinal cord and the brain.
Extractions: Yellow color represents high relative levels of expression while blue represents low levels. The brightest color is three-fold or greater differential from the reference (black). Embryogenesis Larva Metamorphosis Adult Fly gene Human Disease Fly Annotation Acph-1 Lysosomal acid phosphatase deficiency (1) (?) EVALUE 1e-61 Rhabdomyosarcoma, alveolar, 268220 (3) ... EVALUE 1e-300
Cerebrotendinous Xanthomatosis Website Results :: Linkspider UK cerebrotendinous xanthomatosis Websites from the Linkspider UK. CerebrotendinousXanthomatosis Directory. Complete Results for Cerebrotendinous http://www.linkspider.co.uk/Health/ConditionsandDiseases/NutritionandMetabolismD
Extractions: See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis - Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis - WorldMedicus - A definition and alternate name used for this disease. Cerebrotendinous Xanthomatosis - A description of this rare disease, its symptoms, diagnosis and treatment.
Publication List Treatment and followup of children with cerebrotendinous xanthomatosis. Eur. IncreasedSpeech Rate (Tachylalia) in cerebrotendinous xanthomatosis A new sign. http://www.fbw.vu.nl/~htoussaint/B2/publicationsa1.html
Extractions: PhD-theses Publications in scientific journals Bandmann, O., Valente, E.M., Holmans, P., Surtees, R.A.H., Walters, J.H., Wevers, R.A., Marsden, C.D., Wood, N.W. (1998). Dopa-responsive dystonia: a clinical and molecular genetic study. Ann. Neurol., 44(4), 649-656. Barrera, P., Broeder, A. den, Hoogen, F.H.J. van den, Engelen, B.G.M. van, Putte, L.B.A. van de (1998). Postural changes, dysphagia, and systemic sclerosis. Ann. Rheum. Dis., 57(6), 331-338. Barrera, P., Broeder, A. den, Hoogen, F.H.J. van den, Engelen, B.G.M. van, Putte, L.B.A. van de (1998). Postural changes, dysphagia, and systemic sclerosis. Ann. Rheum. Dis., 57(6), 331-338 Brouwer, R., Vree Egberts, W.T.M., Jongen, P.J.H., Engelen, B.G.M. van, Venrooij, W.J. van (1998). Anti-Frequent occurrence of anti-tRNAhis autoantibodies that recognize a conformational epitope in sera of patients with myositis. Arthritis Rheum., 41, 1428-1437. Dijk, J.G. van, Malessy, M.J., Stegeman, D.F. (1998). Why is the electromyogram in obstetric brachial plexus lesions overly optimistic? Muscle Nerve, 21, 260-261.
DISEASE: Cerebrotendinous Xanthomatosis DISEASE cerebrotendinous xanthomatosis. Web Pages. cerebrotendinous xanthomatosisCTX Symptoms presented with this disease, the diagnosis and the treatment. http://disease.bigtome.com/big/page/Cerebrotendinous_Xanthomatosis
VUMC - Radiologie Effect of simvastatin in addition to chenodeoxycholic acid in patients withcerebrotendinous xanthomatosis. Metabolism 1999; 48 (2) 233238. http://www.azvu.nl/radiologie/onderzoek/publicaties.html
Extractions: Publicaties Barkhof F . MRI in multiple sclerosis: correlation with expanded disability status scale (EDSS). Multiple Sclerosis 1999; 5: 283-286. Barkhof F . Changes in magnetization transfer ratio of new enhancing lesions: a new way to asses tissue damage in vivo. Int. MS Journal 1999; 6 (1): 35. Barkhof F , Schut G, Flanz JB, Goitein M, Schippers JM. Verification of the alignment of a therapeutic radiation beam relative to its patient positioner. Med. Phys. 1999; 26 (11): 2429-2237. Barkhof F Walderveen MAA van . Characterization of tissue damage in multiple sclerosis by NMR. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 1999; 354: 1675-1686. Barkhof F , Filippi M, Waesberghe JHTM van , Campi A, Miller DH, Adér HJ. Interobserver agreement for diagnostic MR criteria in suspected MS. Neuroradiology 1999; 41: 347-350. Berry I, Barker GJ, Barkhof F , Campi A, Dousset V, Franconi JM, Gass A, Schreiber W, Miller DH, Tofts PS. A multi-centre; measurement of magnetization transfer ratio in normal white matter. JMRI 1999; 9: 441-446. Boxel-Dezaire AHH van, Hoff SCJ, van Oosten BW, Verweij CL, Draeger AM, Adèr HJ, van Houwelingen JC
