41. Porphyrins & Porphyrias - Cape Town 2005 Site IMAGO Visual - http://www.cmc.uct.ac.za/conferences/2005/porphyrins/external/info.html

Site: - IMAGO Visual - Site: - IMAGO Visual -

42. Free Book Notes.com - Porphyrias Lover By Robert Browning (Free Cliff Notes, Boo free cliff notes, book summaries, and study guides for porphyrias Lover by RobertBrowning. http://www.freebooknotes.com/book.php3?id=1505

43. Log In Problems The porphyrias. from ACP Medicine Posted 12/22/2004. These selfassessment casesare samples ACP Medicine Self-Assessment CME program, an added benefit to http://www.medscape.com/viewarticle/495926

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44. The Porphyrias -- Answer PCT is probably the most common of the porphyrias. It manifests as vesicleformation in sunexposed areas, particularly the dorsum of the hands, http://www.medscape.com/content/2004/00/49/59/495926/ans14.html

B) Isocoproporphyrin in the stool is correct. Key Concept/Objective: To understand the laboratory tests used to diagnose PCT. PCT is probably the most common of the porphyrias. It manifests as vesicle formation in sun-exposed areas, particularly the dorsum of the hands, followed by scarring and hyperpigmentation. It is frequently associated with liver abnormalities. PCT results from an inherited or acquired deficiency in uroporphyrinogen decarboxylase; the acquired form is frequently associated with excessive alcohol ingestion and iron overload. Therefore, the serum ferritin level is typically elevated. Plasma porphyrin levels are also elevated, as are urinary porphyrin levels, leading to urinary fluorescence under ultraviolet light. A finding that is virtually diagnostic of PCT is the presence of isocoproporphyrin in stool.

45. Porphyria National Research Institute on Porphyrins and porphyrias (CIPYP), OBJECTIVESTo differentiate the porphyrias by clinical and biochemical methods. http://www.thedoctorsdoctor.com/diseases/porphyria.htm

Background This group of bullous disorders are caused by abnormalities in the synthesis of heme. Various enzyme deficiencies lead to accumulation of porphyrin precursors. Clinically, there are three main categories. Acute episodes and no skin changes Acute intermittent porphyria ALA-dehydratase deficiency Acute episodes and skin changes Hereditary coproporphyria Vareigate porphyria Skin changes only Congenital erythropoietic porphyria Erythropoietic protoporphyria Porphyria cutanea tarda Hepatoerythropoietic porphyria Acute cases are characterized by abdominal pain, neurologic, and psychiatric disturbances. Skin changes include acute flares with erythema and edema with pain and burning. This pattern is common with erythropoietic protoporphyria. A second pattern has skin fragility with blisters, erosions, and scars. This pattern is seen the other types. Heme porphyrin synthesis follows a sequence of enzymatic changes. The following table lists the sequence of changes and corresponding porphyria associated with the enzyme deficiency. Metabolite Enzyme Porphyria Laboratory Findings Inheritance Glycine+Succinyl CoA ALA-synthase Aminolevulinic acid ALA-dehydratase ALA-dehydratase deficiency Autosomal recessive Porphobilinogen Porphobilinogen deaminase Acute intermittent porphyria Increased porphobilinogen and ALA in urine during and between attacks Autosomal dominant Hydroxymethylbilane Uroporphyrinogen III cosynthase Congenital erythropoietic porphyria

46. EMedicine - Diseases Of Tetrapyrrole Metabolism: Refsum Disease And The Hepatic Background Refsum disease (RD) and the hepatic porphyrias are rare inherited The hepatic porphyrias account for a varying spectrum of upstream http://www.emedicine.com/neuro/byname/diseases-of-tetrapyrrole-metabolism--refsu

(advertisement) Excerpt from Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias Synonyms, Key Words, and Related Terms: phytanic acid storage, porphyria, RD, acute intermittent porphyria, AIP, uroporphyrinogen synthase, porphobilinogen deaminase deficiency, variegate porphyria, VP, protoporphyrinogen oxidase deficiency, hereditary coproporphyria, coproporphyrinogen oxidase deficiency, porphyria cutanea tarda, PCT, uroporphyrinogen decarboxylase deficiency, erythropoietic protoporphyria, EPP, protoporphyria, erythrohepatic protoporphyria, ferrochelatase deficiency, abnormal porphyrin metabolism, neurodegenerative condition, metabolism of tetrapyrrole molecules Please click here to view the full topic text: Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias Background: Refsum disease (RD) and the hepatic porphyrias are rare inherited neurodegenerative conditions with exacerbations and remissions due to abnormal metabolism of large tetrapyrrole molecules. Two common examples of large tetrapyrrole molecules are chlorophyll a, the photosynthetic pigment of green plants, and heme, the prosthetic group of hemoglobin (see

47. EMedicine - Diseases Of Tetrapyrrole Metabolism: Refsum Disease And The Hepatic Background Refsum disease (RD) and the hepatic porphyrias are rare Both RDand the porphyrias tend to occur more often in individuals of white http://www.emedicine.com/neuro/topic633.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Introductory Topics Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias Last Updated: June 7, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: phytanic acid storage, porphyria, RD, acute intermittent porphyria, AIP, uroporphyrinogen synthase, porphobilinogen deaminase deficiency, variegate porphyria, VP, protoporphyrinogen oxidase deficiency, hereditary coproporphyria, coproporphyrinogen oxidase deficiency, porphyria cutanea tarda, PCT, uroporphyrinogen decarboxylase deficiency, erythropoietic protoporphyria, EPP, protoporphyria, erythrohepatic protoporphyria, ferrochelatase deficiency, abnormal porphyrin metabolism, neurodegenerative condition, metabolism of tetrapyrrole molecules AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Norman C Reynolds, MD

48. Porphyria Pediatric Oncall A porphyrias are a heterogeneous group of either inherited or acquired disordersof heme A porphyrias are a rare disorder. They occur due to specific http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/porphyrias.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out PORPHYRIAS UserName Password New Register Forgot password Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB Q: What is porphyria? A: Porphyrias are a heterogeneous group of either inherited or acquired disorders of heme biosynthesis which cause either skin problems or a condition known as acute attack. Q: How do porphyrias occur? A: Porphyrias are a rare disorder. They occur due to specific abnormality of various enzymes in the biosynthetic pathway of heme production. As a result, excess amounts of porphyrias and their precursors accumulate in the body causing generalized clinical abnormalities. Q: What are the various types of porphyrias ?

49. Porphyrins, QN, 24-HR Ur Evaluate porphyrias, including those involving deficiencies of enzymes which are Chemical porphyrias occur. Porphyrinogenic chemicals include certain http://www.labcorp.com/datasets/labcorp/html/chapter/mono/sc029300.htm

Porphyrins, QN, 24-HR Ur Number CPT Synonyms Coproporphyrin; Uroporphyrin Related Information Urine Testing: Preservative Quick Reference Chart Test Includes Coproporphyrins; uroporphyrins; heptacarboxylporphyrins; hexacarboxylporphyrins; and pentacarboxylporphyrins Special Instructions Request form must state 24-hour collection volume. Specimen Urine (24-hour), protected from light Volume 25 mL aliquot Minimum Volume 5 mL aliquot Container Amber plastic urine container with 5 g/L sodium carbonate (Na CO ) as the preferred preservative. No preservative is also acceptable. Do not use acid preservative. Use amber plastic urine cup and amber top (order #2203172201). (If amber cups are unavailable, cover plastic container completely, top and bottom, with aluminum foil. Identify specimen with patient name directly on the container and on the outside of the aluminum foil. Secure with tape.) Collection Instruct patient to void at 8 AM (or 8 PM) and discard the specimen. Then collect all the urine including the final specimen voided at the end of the 24-hour collection period (ie, 8 AM (or 8 PM) the following day). Specimen must be kept refrigerated during collection. Label container with patient's name, and date and time collection started and finished. Measure and record total urine volume. Mix well; send aliquot to laboratory. Storage Instructions Do not expose to light. Refrigerate.

50. NEJM -- Acute Hepatic Porphyrias And Primary Liver Cancer Correspondence from The New England Journal of Medicine Acute Hepatic porphyriasand Primary Liver Cancer. http://content.nejm.org/cgi/content/short/338/25/1853

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 338:1853-1854 June 18, 1998 Number 25 Next Acute Hepatic Porphyrias and Primary Liver Cancer Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text Add to Personal Archive Add to Citation Manager E-mail When Cited ... PubMed Citation To the Editor: Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria) are inherited disorders caused by partial enzyme defects in heme biosynthesis. study have suggested an association between primary liver cancer and acute hepatic porphyrias. We present data from a prospective cohort study that assessed the crude annual incidence rate of primary liver cancer in 650 French carriers of the gene for acute hepatic porphyria followed for seven years. We compared this incidence with the incidence of primary liver cancer in France using the standardized Full Text of this Article References This article has been cited by other articles: Anderson, K. E., Bloomer, J. R., Bonkovsky, H. L., Kushner, J. P., Pierach, C. A., Pimstone, N. R., Desnick, R. J. (2005). Recommendations for the Diagnosis and Treatment of the Acute Porphyrias.

51. NEJM -- Sign In Correspondence from The New England Journal of Medicine Acute Hepatic porphyriasand Primary Liver Cancer. http://content.nejm.org/cgi/content/full/338/25/1853

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. Log in via Athens. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

52. Caremark.com The porphyrias are disorders in which the body produces too much porphyrin andinsufficient This situation is the main characteristic of the porphyrias. http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

53. Porphyrias : Nutrition And Metabolism Disorders : Disorders And Diseases : Healt Web Directory Health and Fitness Disorders and Diseases Nutrition andMetabolism Disorders porphyrias. porphyrias (Subscribe) http://www.internet-web-directory.com/Health_and_Fitness/Disorders_and_Diseases/

Skip to Content Login/Register Web Directory by Internet-Web-Directory.com Web Directory Home ... Link Notify Search the entire directory only this category Advanced Search Web Directory Health and Fitness Disorders and Diseases ... Nutrition and Metabolism Disorders Porphyrias Porphyrias Subscribe Links Canadian Porphyria Foundation http://www.cpf-inc.ca/ Mission statement, objectives of the organization, newsletters and safe and unsafe drugs. Also: A Guide to Porphyria - a complete booklet of information. More Details Review It Rate It Bookmark It Sponsor Links Love Romance Dating Gift Ideas at Gifts-Shop.com Internet-Web-Directory.com

54. A Look At Porphyria In the past, the porphyrias were divided into groups based on the site of A disorder related to the porphyrias is erythropoietic protoporphyria (EPP). http://rarediseases.about.com/cs/porphyria/a/072000.htm

var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on porphyria','http://rarediseases.about.com/cs/porphyria/index.htm'); var zIoa2 = new Array('Elsewhere on the Web','The American Porphyria Foundation','http://www.porphyriafoundation.com/','Canadian Porphyria Foundation: A Guide to Porphyria','http://www.cpf-inc.ca/guide.htm'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases O - R Rare Diseases: P - Q A Look at Porphyria Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on porphyria Elsewhere on the Web The American Porphyria Foundation Canadian Porphyria Foundation: A Guide to Porphyria Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55')

55. Panhematin®: Other Important Treatment Considerations For The Acute Porphyrias The porphyrias. In Goldman L, Ausiello D, eds Cecil Textbook of Medicine.Philadelphia, Pa WB Saunders Co; 2004 chap. 223. Bonkovsky HL, Healey BS, http://www.porphyriafoundation.com/panhematin/acute.html

Other Important Treatment Considerations for the Acute Porphyrias Hospitalization is often necessary for acute attacks. Medications for pain, nausea, and vomiting, as well as close observation are generally required. A high intake of glucose or other carbohydrates can help to suppress disease activity and can be given by vein or by mouth. Attacks are often precipitated by low intake of carbohydrates and calories in an attempt to lose weight. Thus dietary counseling is very important. Premenstrual attacks often resolve quickly with the onset of menses. Hormone manipulations may prevent such attacks. Acute porphyria is particularly dangerous if the diagnosis has not been made and if harmful drugs are administered. The prognosis is usually good if the disease is recognized and if treatment and preventive measures are begun before severe nerve damage has occurred. Although symptoms usually resolve after an attack, some patients develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months or longer after a severe attack. Mental symptoms may occur during attacks but are usually not chronic. Wearing a MedicAlert bracelet is advisable for patients who have been diagnosed with porphyria.

56. About Porphyria: Testing Suitable screening tests for porphyrias No single test is effective for screeningfor all porphyrias. However, one of two tests can be relied upon in almost http://www.porphyriafoundation.com/about_por/testing/testing01d.html

Testing Navigate this section... About lab tests Why laboratory tests are important Substances that accumulate in porphyrias Sensitivity and specificity of tests Approach to laboratory testing Suitable screening tests for porphyrias Summary of tests available Laboratory testing of subclinical porphyria Misinterpretation of porphyria test results Directions for collecting US labs and specialists International labs and specialists Drug study About lab tests Suitable screening tests for porphyrias No single test is effective for screening for all porphyrias. However, one of two tests can be relied upon in almost all situations, depending on the symptoms. Information about screening tests is summarized in Table 2. The symptoms of porphyrias are either due to effects on the nervous system or the skin. Acute porphyrias lead to a variety of effects on the nervous systems such as abdominal pain, nausea, vomiting, pain in the extremities and elsewhere, muscle weakness and altered mental functioning. Cutaneous porphyrias lead to skin manifestations in sun-exposed areas (photosensitivity). These may include chronic blistering or more acute pain and swelling. Some porphyrias have both cutaneous and neurological manifestations. Acute porphyrias. Measurement of porphobilinogen (PBG) in urine can be relied upon for screening for the acute porphyrias when there are neurological symptoms such as abdominal pain. PBG is markedly increased in almost all patients with symptoms of acute porphyrias and is never markedly increased in diseases other than acute porphyrias. Therefore this test is both sensitive and specific.

57. Acute Porphyrias.net > Home To view and download the Recommendations for the Diagnosis and Treatment of theAcute porphyrias CME accredited slide kit, please register here. http://www.acuteporphyrias.net/

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59. ASH ONLINE This paper reviews the pathophysiology of porphyrias and discusses the......Ahmed I. Childhood porphyrias. Mayo Clin Proc 778 Aug, 2002 825836. http://www.hematology.org/training/reading/Porphyrias.cfm

60. DermIS / Main Menu / PeDOIA / Table Of Contents / 2 Genodermatoses / 2.8 The  / table of contents / 2 Genodermatoses / 2.8 The porphyrias. 2.8, The porphyrias,2. 2.8.1, Congenital Erythropoietic Porphyria, 3 http://dermis.multimedica.de/doia/cbrowser.asp?zugr=p&lang=e&hdgnumber=02_08_

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