81. Bienvenue Sur La Homepage De Leo Vandenbroucke (syndrome Menkes) Translate this page Da war viel los hat aber Spaß gemacht. - Neue Kontakte zu Eltern mit Kindern mitMenkes oder anderen seltenen Krankheiten mit Virginie, der Mama von Lou, Lou http://www.net.lu/leo/page_newsD.html

Last update on 04/03/03 Was gibt's Neues bei mir? - Anfang Oktober hatte ich einen Termin bei Dr Pauly in Luxemburg. Wir entschieden, dass ich einen bequemen Sitz mit kleinen Rollen erhalte. (siège moulé sur roulettes). Yuppie!! Dachte ich mir. Dann kann ich endlich sitzen und meinen Kopf drehen und neue Dinge entdecken. Die Anfertigung wird sicherlich Zeit kosten doch ich freue mich jetzt schon. - Ich habe im Oktober 2 Wochen lang Schnupfen gehabt, ganz schön nervig. - Ich habe mit der einer Therapie nach "Bobath" begonnen. - Meine Wocheenden waren gut ausgefüllt im letzten Monat: meine Großeltern (die Deutschen und die Franzosen) waren zu Besuch außerdem auch Onkel und Tante aus der Bretagne sowie unsere Freunde aus Genf. Da war viel los hat aber Spaß gemacht. - Neue Kontakte zu Eltern mit Kindern mit Menkes oder anderen seltenen Krankheiten: mit Virginie, der Mama von Lou, Lou ist 2 Jahre alt und leidet am "West Syndrom" sowie Rod und Karine die Eltern des kleinen Thibaud (ehrlich noch ein Zwerg) der ist erst 5 Monate alt, hat auch das "Menkes Syndrom" und wohnt in Lyon und Annick die Mama von Anne-Lorène, die ist aber schon fast ein Teenager aber auch ganz niedlich, sie hat das Aicardi Syndrom. (UUPS, Chloé ist ja schon meine Freundin aber gucken darf man ja noch!!!! ) Die meisten sind in der gleichen Situation wie ich und meine Eltern.. Es ist wichtig, dass wir Kontakt halten. So kann man sich gegenseitig unterstützen. - Die Eltern meines Kumpels, der auch Leo heißt, haben geheiratet (Familie Petitgenet-Ries). Super, die haben jetzt zusammen 3 Kinder.

82. Medic-Planet Genetic Diseases menkes' syndrome In 1993 three separate teams of researchers reported locating onthe X chromosome the gene responsible for proper copper transport across the http://www.medic-planet.com/MP_article/internal_reference/Genetic_diseases

83. PhD Research Gene location, X chromosome/recessive. Chromosome 13/recessive. menkesDisease (KinkyHair syndrome). John menkes, MD.menkes disease http://www.scripps.edu/~didonato/Phd.shtml

I obtained my PhD from the department of biochemistry at the Univeristy of Toronto while working in the laboratory of Dr. Bibudhendra Sarkar at the research institute of the Hospital for Sick Children in Toronto Ontario, Canada. The main interests in Dr. Sarkar's lab are the study of genetic disorders of copper metabolism. Specifically, I was involved in the expression and characterization of the copper binding domain from the Wilson disease copper transporting P-type ATPase. Quick Links Genetic Disorders of Copper Transport Menkes Disease Wilson Disease Cu-Transporting ATPases ... Publications Genetic Disorder of Copper Transport in Humans Although trace amounts of heavy metals are needed to sustain life, a deficiency or excess of heavy metals can be detrimental. In particular, the levels of redox active metals such as copper and iron must be tightly conrolled to prevent increased free radical generation and lipid peroxidation. When the mechanisms which control metal homeostasis fail, serious disorders usually follow. The two major genetic disorders of copper metabolism in humans are Menkes and Wilson disease . Both disorders arise from the disruption of copper homeostasis but have complementary pathologies. Menkes Disease Wilson Disease Laboratory findings Increased serum copper levels Decreased liver copper levels Increased intestinal/kidney copper levels Decreased serum copper levels Increased liver copper levels Increased urinary copper levels Defect Intestinal copper absorption Decreased biliary excretion of copper

84. Health Library Menaval®Estradiol. Menest®-Estrogens (Combined). menkes’ Disease. menkes'syndrome-menkes’ Disease. Menopause. Menopause Symptoms. Menorrhagia. http://www.ochsner.org/Library/HealthGuide/CAM/_SearchResults.asp?letter=M&modul

85. MENKES (KINKY HAIR) DISEASE Wilson Disease; menkes Disease; Occipital Horn syndrome. isolation of the menkesdisease gene (Cubinding P-type ATPase) was first reported in 1993 by three http://www.icondata.com/health/pedbase/files/MENKES(K.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 2/06/94 MENKES (KINKY HAIR) DISEASE DEFINITION: A progressive neurodegenerative disorder characterized by degeneration of the CNS grey matter with distinctive facies and hair and progressive neurological deterioration. EPIDEMIOLOGY: incidence: 1/35-50,000 male live births age of onset: first months of life risk factors: familial - X-linked recessive chrom. #: Xq13.3 gene: Copper-binding P-type ATPase PATHOGENESIS: 1. Background there are 3 inherited disorders known to be caused by genetic defects in copper metabolism: Wilson Disease Menkes Disease Occipital Horn Syndrome isolation of the Menkes disease gene (Cu-binding P-type ATPase) was first reported in 1993 by three groups (Vulpe et. al, Chelly et al., Mercier et al., Nature Genetics 3:7-25, 1993) and is a member of a cation-transporting P-type ATPase subfamily expression of the Cu-binding P-type ATPase occurs in all tissues except the liver and thus on biopsy there is increased copper deposition in intestinal and kidney samples but decreased copper deposition in liver samples taken from patients with Menkes Disease (Chelly and Monaco, Nature Genetics 5:317-318, 1993) the function of cuproenzymes is dependent on copper: 1. Oxidases

86. ILDS: ICD-10 - By Code [E80200 - E88801] This is a list of Dermatology disease codes that include Dercum's. Scan down to the bottom of the Category Health Conditions and Diseases Dercum Disease...... E805 CriglerNajjar syndrome, E83000 syndrome menkes', E83000 Steely hair disease, E83000menkes' syndrome, E83001 Disease Wilson's, E83001 Wilson's disease, http://www.ilds.org/icd10/bycode/E-02.html

Application to Dermatology of ICD-10 Alphabetized by ICD Code, E80200 - E88801: Return to Alphabetical listing... ICD Code: Disorder Porphyria hepatic Porphyria Swedish Porphyria acute intermittent Hepatic porphyria Acute intermittent porphyria Swedish porphyria Porphyria variegate Variegate porphyria Porphyria South African genetic South African genetic porphyria Porphyria toxic Toxic porphyria Pyrrolopompholyx Chester porphyria Porphyria Chester Erythropoietic coproporphyria Hepatoerythropoietic porphyria Hereditary coproporphyria Hereditary protocoproporphyria Protocoproporphyria hereditary Coproporphyria hereditary Plumboporphyria Porphyria secondary Secondary porphyria Hematoporphyria (NOS) Porphyria (NOS) Syndrome Crigler-Najjar Crigler-Najjar syndrome Syndrome Menkes' Steely hair disease Disease steely hair Menkes' syndrome Disease Wilson's Wilson's disease Bronze diabetes Diabetes bronze Hemochromatosis Syndrome Troisier Hanot Chauffard Troisier Hanot Chauffard syndrome Acrodermatitis enteropathica Cystic fibrosis with skin manifestations Mucoviscidosis with skin manifestations Amyloidosis inherited systemic Familial Mediterranean fever Fever familial Mediterranean Muckle Wells syndrome Syndrome Muckle Wells Amyloidosis secondary systemic Amyloidosis primary localised cutaneous Amyloidosis secondary localised cutaneous Amyloidosis macular Macular amyloid Lichen amyloidosus Amyloidosus lichen Amyloidosis papular Papular amyloidosis Amyloidosis nodular Nodular amyloidosis Purpura amyloid

87. EMedicine - Menkes Kinky Hair Disease : Article By Suguru Imaeda, MD menkes Kinky Hair Disease menkes kinky hair syndrome is an X-linkedrecessive multisystemic lethal disorder of copper metabolism. http://www.emedicine.com/derm/topic715.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Menkes Kinky Hair Disease Last Updated: April 16, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: steely hair syndrome, trichopoliodystrophy, copper metabolism, copper deficiency, pili torti, hair-shaft abnormality AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Mark A Crowe, MD , Chief, Department of Dermatology, Madigan Army Medical Center; Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine; Michael J Wells, MD

88. Copper, Serum/Plasma (001586) 1 Serum copper is low in menkes' syndrome. Copper in the CSF is reportedto mirror the neurotoxicity of copper in Wilson disease. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/bm004700.htm

Copper, Serum/Plasma (001586) CPT Related Information Copper, Urine Synonyms Cu, Plasma; Cu, Serum Specimen Serum or plasma Volume 1 mL Minimum Volume 0.2 mL Container Red-stopper tube, serum-separator tube, royal blue-stopper (EDTA or heparinized plasma) tube Collection Serum must be separated from cells within 45 minutes of collection and transferred to a plastic transport tube. Plasma may be separated immediately and transferred to a plastic transport tube for shipment to the laboratory. Storage Instructions Maintain specimen at room temperature. Causes for Rejection Gel tube; unspun red-stopper tube Reference Interval Environmental exposure: 70-155 g/dL. Levels may be somewhat higher in pregnant women and children and in patients receiving estrogen therapy. Use It is used, along with serum ceruloplasmin and urine copper to test for Wilson disease and more often, in monitoring the nutritional adequacy of parenteral or enteral nutrition, especially when copper deficiency may be suspected because of ongoing gastrointestinal losses of the element (see table). The test is done in suspected copper toxicity in premature infants when they are acutely ill and may not be able to assimilate the copper in their prescribed nutrition; in acute copper intoxications; or in "Indian childhood cirrhosis," an illness not limited to Indian children. Serum copper is low in Menkes' syndrome. Copper in the CSF is reported to mirror the neurotoxicity of copper in Wilson disease.

89. Menke Disease Also See National organizations, genetic conditions and birth defects resources;menkes' syndrome, United Kingdom; Drug therapy for Menke's disease. http://www.kumc.edu/gec/support/menke.html

Menke disease Corporation for Menke's Disease 5720 Buckfield Court Fort Wayne, IN 46804 Phone: (219) 436-0137 Web Site: www.readersdigesthealth.com/kbase/shc/shc270.htm Also See: National organizations , genetic conditions and birth defects resources Menkes' Syndrome , United Kingdom Drug therapy for Menke's disease To locate a genetic counselor or geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

90. GASNet Anesthesiology: Menkes' Syndrome menkes' syndrome symptoms and caveats http://gasnet.med.yale.edu/pediatric-syndromes/menkes.php

91. GASNet Anesthesiology: Contents M - R Meckel's syndrome. MEN Type II. Sipple's syndrome (MEN - type II). menkes. menkes'syndrome. Merritt. Kasabach - Merritt syndrome. Mikity. Wilson - Mikity syndrome. http://gasnet.med.yale.edu/pediatric-syndromes/m2r_br.php

Contents M - R - pediatric syndromes - Mandibular Dysostosis Treacher - Collins Syndrome (Mandibulofacial Dysostosis) Maple Syrup Maple Syrup Urine Disease (Branched Chain Ketonuria) Marble Bone Disease Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Marfan Marfan's Syndrome Marie Charcot - Marie - Tooth Disease Maroteaux Maroteaux - Lamy Disease McArdle McArdle Disease (Type V Glycogen Storage Disease) McCune McCune - Albright Syndrome Meckel Meckel's Syndrome MEN - Type II Sipple's Syndrome (MEN - type II) Menkes Menkes' Syndrome Merritt Kasabach - Merritt Syndrome Mikity Wilson - Mikity Syndrome Miller Miller's Syndrome Möbius Möbius Syndrome Moon Lawrence - Moon - Biedl Syndrome Morquio Morquio Syndrome (Mucopolysaccharidosis Type IV) Moschkowitz Moschkowitz Disease (Thrombotic Thrombocytopenic Purpura) Moss Gorlin - Chaudhry - Moss Syndrome Mucopolysaccharidosis Type I Hurler Syndrome (Mucopolysaccharidosis Type I) Mucopolysaccharidosis Type II Hunter's Syndrome (Mucopolysaccharidosis Type II) Mucopolysaccharidosis Type III Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Mucopolysaccharidosis Type IV Morquio Syndrome (Mucopolysaccharidosis Type IV) Mucopolysaccharidosis Type V Scheie Disease (Mucopolysaccharidosis Type V) Myasthenia Gravis Myasthenia Gravis Myositis Myositis Ossificans (Fybrodysplasia Ossificans) Myotonia Myotonic Dystrophy (Steinert's Disease) Necrolysis Lyell Disease (Toxic Epidermal Necrolysis) Neonatal Ectopia Cordis Neonatal Ectopia Cordis Neurofibromatosis Neurofibromatosis (von Recklinghausen Syndrome) Nielsen

92. Menkes' Syndrome Website Results :: Linkspider UK menkes' syndrome Websites from the Linkspider UK. menkes' syndrome Directory. CompleteResults for menkes' syndrome Related Topics. Keyword menkes' syndrome. http://www.linkspider.co.uk/Health/ConditionsandDiseases/NutritionandMetabolismD

Menkes' Syndrome Websites from Linkspider UK Keyword: Menkes' Syndrome Linkspider UK Directory Menkes' Syndrome Search for Directory Tree: Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Vitamins and Minerals : Menkes' Syndrome (6) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic Health: Nutrition: Nutrients in Foods: Vitamins and Minerals: Copper Menkes Disease - An information sheet this disease including treatment and prognosis. Menkes' Syndrome - An in depth look at this syndrome starting with alternate names. Clinical features, diagnosis and clinical management are a few to the topics covered. Menkes Syndrome - A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis and reference. Menkes Syndrome - In depth look at this disease including the following, description, clinical features, biochemical and other features, molecular genetics, diagnosis and clinical management. Friends of Alexander Deihl - A non-profit organization established to help children and their families who have been affected by a crippling disorder or are terminally ill. About Menkes' Syndrome with support.

93. Biochem. J. (1980) 192, 579-586 - Royce PM And Others - Reduced Lysyl Oxidase Ac Reduced lysyl oxidase activity in skin fibroblasts from patients withMenkes' syndrome. Royce PM, Camakaris J, Danks DM. Lysyl oxidase http://www.biochemj.org/bj/192/bj1920579.htm

Whole site Author Keywords Title Medline/PubMed Citation Related Articles in PubMed Download to Citation Matcher Biochem. J. (1980) (Printed in Great Britain) Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Royce PM, Camakaris J, Danks DM Immediate Publications Current issue Browse archive Search archive ... Library recommendation form

94. Diagnosis - Alopecias Table Keratosis follicularis, Kerion, (Various), List. Kinky hair syndrome, Menkessyndrome, Steely hair disease (copper transport disease), 309400. Kwashiorkor, http://www.keratin.com/ab/ab004.shtml

alopecias table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving hair loss (alopecias) as a primary symptom List of disorders involving hair loss (alopecias) as a secondary symptom Introduction The tables below records disorders known to involve alopecia. The first table lists disorders where alopecia is a primary symptom. The second table lists disorders where alopecia can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving alopecia. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are given where possible.

95. Pediatric Diagnoses The pediatric diagnoses list below includes information on common diagnoses aswell as rare disorders that may be seen in the early intervention setting. http://www.dpo.uab.edu/~birmie/diaglist.htm

Home About Me Table of Contents What is Physical Therapy ... Contact me The pediatric diagnoses list below includes information on common diagnoses as well as rare disorders that may be seen in the early intervention setting. Each listing includes definition, epidemiology, etiology, clinical symptoms, treatment overview, prognosis, references and links. o Due to the complexity of treatment sessions as well as for the sake of brevity, a brief example of treatment topics is included (also, brief medical management may be included). As one will see from clinical experiences, treatment sessions are very dynamic and child-centered requiring the therapist to continually assess and modify the techniques as the session progresses. For the therapy to be efficient and effective, it must be goal-oriented, interesting to the child, and functionally relevant allowing the child to do as much as possible. Agenesis of the Corpus Callosum Down syndrome Angelman Syndrome Fetal Alcohol Syndrome ... Pervasive Developmental Disorder (autism) Cerebral palsy Spina Bifida Cornelia de Lange Syndrome Sessions may include any of the following: 1) Techniques to develop proximal control to enhance distal function such as weight shifting onto on side while reaching for a toy. This works balance and equilibrium, shoulder stability, and motor control.

96. Endpaper at CedarsSinai Medical Center. A disease is named after him, MenkesSyndrome. ( What's that? a reporter asks. He shakes his head http://www.jewishjournal.com/old/endpaper.1.7.0.htm

JANUARY 7, 2000 29 TEVET, 5760 Sections Home Cover Story Personals Classifieds ... Search Contact Us! Webmaster About Us Endpaper By James D. Besser, Washington Correspondent Dr. John Menkes A Novel Approach to Medicine When John Menkes, the novelist, sat down to write his medical thriller, "The Angry Puppet Syndrome" (Demos Medical Publishing, $24.95), he was fortunate to have at his disposal the knowledge and experience of a world-renowned neurologist: himself. Born in Vienna, Menkes arrived in America at age 11 in 1939 and settled with his family on West Adams Boulevard. Menkes dreamed of being a journalist, but was the product of three generations of Jewish doctors. His grandfather's pathology professor had, as a young man, autopsied Beethoven that's nachas . He received his M.D. at Johns Hopkins University, but the writing bug stuck. When he did his pediatric internship at Harvard, he doctored all night, then attended literature classes during the day. Menkes became a renowned specialist and is currently director of pediatric neurology at Cedars-Sinai Medical Center. A disease is named after him, Menkes Syndrome. ("What's that?" a reporter asks. He shakes his head, "Bad.") A recipient of the Hower Award, given to the outstanding pediatric neurologist in the world, Menkes wrote the textbook on child neurology, now in its sixth edition. About 15 years ago, the doctor decided to write more than textbooks. He penned a play, "The Last Inquisitor," which won the Drama-Logue Award, then turned his attention to novels.

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