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Hereditary Angioedema:     more detail

A Selection of Important Papers in Hereditary Angioedema: A Compilation of Key Peer-Reviewed Papers From Leading Journals Urticaria and Angioedema: Anaphylaxis, Solar Urticaria, Angioedema, Cold Urticaria, Dermatographic Urticaria, Hereditary Angioedema Study finds C1-inhibitor concentrate is safe and effective in treating skin swelling in patients with hereditary angioedema.(GENERAL DERMATOLOGY)(use of ... An article from: Dermatology Nursing by Daniel B. Burfeind, 2007-06-01 Erythema marginatum and hereditary angioedema.(Original Article): An article from: Southern Medical Journal by John C. Starr, George W. Brasher, et all 2004-10-01 Clinical Review of Hereditary Angioedema (Postgraduate Medicine) by MD Mark Weis, 2010-05-16 Icatibant promising for hereditary angioedema.(News): An article from: Skin & Allergy News by Nancy Walsh, 2007-07-01 Hereditary angioedema: a case study.(Case study)(Clinical report): An article from: Journal of Neuroscience Nursing by Vincent M., Jr. Vacca, 2007-10-01 Hereditary angioedema.: An article from: Journal of Drugs in Dermatology by Michael M. Sachse, Amor Khachemoune, et all 2006-10-01

lists with details

61. Biotech Tracker News - Small Study Supports DX-88 Development
    DX88’s Effect on Mitigating Angioedema) study, which is enrolling patients 10years of age or older who suffer from acute attacks of hereditary angioedema.  
    http://www.bioportfolio.com/news/biotracker_81.htm
    
    Extractions: BioWeb: Advanced BioNews: Advanced Have your news published using BioPortfolio's BioNewsCast service - view details! Biotech Tracker News - Small Study Supports DX-88 Development March 10, 2003 Interim phase II data presented at the 60th Annual Meeting of the American Academy of Allergy, Asthma and Immunology (AAAAI) confirmed the therapeutic potential of Dyax’s (NASDAQ: DYAX) DX-88 for the treatment of hereditary and acquired angioedema. DX-88 should move into phase III trials. All study subjects experienced symptomatic relief, with time to relief ranging from 25 minutes to 3 hours. Time to symptom resolution ranged from 2 to 72 hours. An untreated hereditary angiodema episode lasts from a day or two to a week. The agent’s adversity profile was manageable and reassuring. Dyax and Genzyme (NASDAQ: GENZ) are recruiting patients to the placebo-controlled phase II EDEMA1 (Evaluation of DX-88’s Effect on Mitigating Angioedema) study, which is enrolling patients 10 years of age or older who suffer from acute attacks of hereditary angioedema. Participants will be administered one dose by intravenous infusion, and will be followed for a period of 28 days.

62. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders
    Spanish (1). Sites Adam.com An Overview A definition of hereditary angioedemaalong with a look at the causes, incidence and risk factors.  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

63. The Complement Laboratory At The University Of Iowa
    This may happen in a condition called hereditary angioedema (HAE). HereditaryAngioedema (HAE) is a rare but serious disorder. Patients  
    http://ictg.uiowa.edu/clab/what.htm
    
    Extractions: The Complement Laboratory What is complement? Complement is part of the immune system which helps us fight diseases. It involves a complex 'cascade' of proteins, which act in concert to clear foreign organisms from the body. There are more than 20 proteins involved in the complement system. One of them, C1 Esterase Inhibitor (C1 Inhibitor), is a special focus of this laboratory. What is C1 Inhibitor - Why is it important? This protein helps to control (regulate) the complement system. When present in normal amounts, it helps to turn the complement cascade off. If there is not enough C1 Inhibitor, a runaway reaction may result. This may happen in a condition called Hereditary Angioedema (HAE). Hereditary Angioedema (HAE) is a rare but serious disorder. Patients with HAE have episodes of swelling of the hands, feet, trunk, face, gut and airways. In addition, patients with HAE may have recurrent attacks of nausea, vomiting, and abdominal pain. Swelling of the airways can be deadly if not treated and controlled properly. One fourth of patients with HAE reported in the medical literature have died from respiratory obstruction caused by swelling of the throat. Attacks may occur without any cause. However, anxiety, stress, or minor trauma such as dental procedures, can trigger episodes. The frequency and severity of attacks are unpredictable. Patients with HAE must be closely monitored by a physician who understands this disorder.

64. Angioedema
    There are two types of angioedema acquired angioedema and hereditary angioedema. Hereditaryangioedema (HAE) is passed from parents to children.  
    http://www.lebanonhealth.com/condi/45031.htm
    
    Extractions: Angioedema Angioedema is similar to hives , except that the reaction occurs in a deeper layer of the skin. It can occur in any part of the body and is characterized by widespread swelling that results in large welts below the surface of the skin, especially around the eyes and lips. Angioedema can occur rapidly after exposure to allergens (substances that cause an allergic reaction) or may occur more slowly and recur. (See Allergies .) Though uncomfortable, this condition is usually harmless and resolves itself within hours to a few days. However, if the swelling affects the voice box (larynx) or throat (pharynx), it can be life threatening. Angioedema is also called angioneurotic edema, Quincke's disease and Quincke's edema. There are two types of angioedema: acquired angioedema and hereditary angioedema. Acquired angioedema is the most common; about 5 percent to 10 percent of people have the condition at some time. It is associated with the release of histamine and other chemicals into the bloodstream as part of an allergic reaction particularly in response to allergens commonly associated with anaphylaxis Hereditary angioedema (HAE) is passed from parents to children. A child has a 50 percent chance of inheriting the condition if one of his or her parents has it. It's much less common than acquired angioedema, but is more serious. People with this disease may have episodes of swelling of the hands, feet, trunk and face. In hereditary angioedema, areas of swelling may include the wall of the intestine, resulting in abdominal cramps

65. TSRI Scientific Report 1999-2000 - Molecular And Experimental Medicine - Investi
    C1 INHIBITOR MUTATIONS IN hereditary angioedema. Zuraw, BL, Herschbach, J. Detectionof C1 inhibitor mutations in patients with hereditary angioedema.  
    http://www.scripps.edu/research/sr2000/mem35.html
    
    Extractions: B.L. Zuraw, S.C. Christiansen, Z.K. Pan, J. Eddleston, K.M. Woessner Inflammation plays a critical role in the pathogenesis of many allergic diseases, including asthma and rhinitis. Additionally, deficiencies in C1 inhibitor result in angioedema due to poorly regulated generation of the inflammatory mediator bradykinin. Our studies focus on the molecular mechanisms that regulate both the generation and the effects of inflammatory molecules, particularly kinins and chemokines. Hereditary angioedema is an autosomal dominant disease caused by a mutation of the gene for C1 inhibitor and characterized by recurrent angioedema. Our studies suggest that activation of the plasma contact system and generation of bradykinin are causal factors in angioedema. We identified a variety of new mutations and polymorphisms of the gene for C1 inhibitor in patients with hereditary angioedema, and we are characterizing the functional consequences of different mutations in the inhibitor. The transcriptional and posttranscriptional control of expression of mutant and wild-type C1 inhibitor is being characterized to define the genotype-phenotype relationships in hereditary angioedema. Kinins are potent peptide mediators that are rapidly generated during inflammation of the airway. Two types of bradykinin receptors are recognized: a B2 bradykinin receptor that binds bradykinin and a B1 bradykinin receptor that binds desArg-Lys-bradykinin. We showed that bradykinin potently activates the transcription factor NF-

66. TSRI Scientific Report 1997-1998 - MEM - Investigators' Reports
    hereditary angioedema is an autosomal dominant disease caused by a mutationof the gene for C1 inhibitor and characterized by recurrent angioedema.  
    http://www.scripps.edu/research/sr98/memgen37.htm
    
    Extractions: B.L. Zuraw, Z.K. Pan, K.M. Woessner, S.C. Christiansen, R.D. Ye* * Department of Immunology, TSRI Inflammation plays a critical role in the pathogenesis of many allergic diseases, including asthma and rhinitis. Additionally, deficiencies in C1 inhibitor result in angioedema due to poorly regulated generation of inflammatory mediators. Our studies focus on the molecular mechanisms that regulate both the generation and effects of inflammatory mediators, particularly kinins. Hereditary angioedema is an autosomal dominant disease caused by a mutation of the gene for C1 inhibitor and characterized by recurrent angioedema. Our studies have implicated activation of the plasma contact system and generation of bradykinin as causal factors in angioedema. We have identified a variety of new mutations of the gene for C1 inhibitor in patients with hereditary angioedema. To assess the relationship between the different genomic mutations and the variable clinical phenotypes, we transfected the cloned mutant cDNAs into COS-7 cells and analyzed the intracellular and extracellular expression and function of the C1 inhibitor proteins. Relative expression of the wild-type and mutant alleles is also being compared in monocytes from patients with different C1 inhibitor mutations. We are also characterizing the functional effect of polymorphisms that may play a disease-modifying role in hereditary angioedema. EFFECT OF KININS ON GENE TRANSCRIPTION

67. Case_Online Medical Education
    hereditary angioedema ‘Type I’ (2/12/2002 ). hereditary angioedema (HAE)is an autosomal dominant disease due to mutations at C1 inhibitor gene.  
    http://mededucation.bjmu.edu.cn/case1/path/show.asp?indx=80

68. Emergency Medicine Informatics
    Case A 26year-old female who is 8 weeks pregnant presents with a history ofhereditary angioedema (HAE). What deficiency causes hereditary angioedema?  
    http://www.ncemi.org/cotw/datafiles/0017.htm
    
    Extractions: A 26-year-old female who is 8 weeks pregnant presents with a history of hereditary angioedema (HAE). She complains of lower lip, lower extremity, and bilateral hand swelling. The swelling began in the morning and is not improving. She is not short of breath and there is no stridor on examination. What deficiency causes hereditary angioedema? How does her pregnancy affect your therapeutic options? How would you disposition of the patient? I want to learn more! Medline

69. Quincke's Disease
    hereditary angioedema, a genetic disorder of the complement system, is characterizedby either an obsence of functional deficiency of C'1 esterase inhibitor.  
    http://www.ncemi.org/cse/cse0412.htm
    
    Extractions: Back to table of contents A patient complains of a foreign body sensation or fullness in the throat, possibly associated with a muffled voice and gagging. Upon examination of the throat, the uvula is swollen, pale, and somewhat translucent (uvular hydrops). If greatly enlarged, the uvula might rest on the tongue and move in and out with respiration. There might be an associated rash or a history of exposure to phsical stimuli, allergens, or a recurrent seasonal indicence. Because of the known association of uvular with hypopharyngeal edema, watch for signs of airway compromise. If a patient complains of resiratory difficulty or breathes with stridor, commence treatment with intravenous lines and intubation and cricothyrotomy equipment at the bedside, and a crosstable lateral soft tissue neck x ray to rule out epiglottic swelling. If there is no acute respiraory difficulty, ask about precipitating events. Consider foods, drugs, physical agents, inhalants, insect bites and hereditary angioedema. When fever, sore throat and pharyngeal injection are present, culture the throat with a rapid strep screen and give an antibiotic that covers Haemophilus influenzae (e.g., Biaxin, Augmentin, Bactrim).

70. Directory :: Look.com
    hereditary angioedema (5) Sites. Adam.com An Overview A definition of hereditaryangioedema along with a look at the causes, incidence and risk factors.  
    http://www.look.com/searchroute/directorysearch.asp?p=523632

71. Virtual Hospital: University Of Iowa Family Practice Handbook, Fourth Edition: D
    Cause is similar to urticaria but may also include hereditary angioedema (see below)or, commonly, ACE inhibitors; Chronic urticaria. hereditary angioedema.  
    http://www.vh.org/adult/provider/familymedicine/FPHandbook/Chapter17/08-17.html
    
    Extractions: Overview . Urticaria is a common disorder that affect 15%-20% of the population at some time. Urticaria is characterized by a transient, pruritic, patchy eruption that consists of lightly erythematous papules or wheals with raised borders and blanched centers involving the superficial skin layers; involvement of the deeper layers and/or the submucosa is called angioedema . Lesions vary considerably in size, from 2 mm to over 30 cm and may be circular or irregularly shaped. The most common site for urticaria is the trunk, although lesions may occur on any part of the body. Urticaria has been divided into two major groups: Acute urticaria . Defined as hives persisting for less than 4 to 6 weeks (usually two to three days). It occurs with a higher incidence in atopic individuals. Commonly identified causes include foods, drugs, and infections but in over half of patients there is no identifiable cause. Angioedema . Acute attacks are manifested as large irregular areas of subcutaneous swelling. Cause is similar to urticaria but may also include hereditary angioedema (see below) or, commonly, ACE inhibitors

72. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Hereditary Angioe
    Table of content. hereditary angioedema. Unlike hives from an allergicreaction , there is usually no itching with hereditary angioedema.  
    http://www.enlmedical.com/article/001456.htm
    
    Extractions: Hereditary angioedema is an inherited trait that affects proteins that assist in the destruction of infectious bacteria and play a role in other diseases. People with hereditary angioedema can develop rapid swelling of the hands, feet, limbs, face, intestinal tract, or airway (larynx or trachea). Unlike hives from an allergic reaction , there is usually no itching with hereditary angioedema. Swelling of the gut can cause intestinal cramping. Closure of the airway by swelling can be fatal. Attacks of swelling can become more severe in late childhood and adolescence.

73. Bordetella Pertussis DFA And Culture
    Two major forms of C1INH deficiency have been reported the congenital form, termedhereditary angioedema (HAE), and the acquired form, which is associated  
    http://www.aruplab.com/guides/clt/tests/clt_a108.htm
    
    Extractions: Bordetella pertussis is the etiologic agent of "whooping cough" or pertussis. Classical pertussis presents in three stages. The prodromal (catarrhal) stage is characterized by coryza and a mild cough and lasts 1-2 weeks. This is the most infectious state because a large number of organisms are present in the upper respiratory tract. Following this is the paroxysmal or "whoop" stage, so named because of the whooping sound made by the patient. Also present is post-tussive vomiting and cyanosis. Pneumonia is a common complication with an associated mortality as high as 54%. This phase lasts from 2-6 weeks. At the end of this stage is the convalescent period, during which the cough gradually decreases in frequency. The classical pertussis syndrome usually occurs in unimmunized or incompletely immunized children. However, symptomatic but unrecognized disease in adults contributes to the spread of disease. Disease in adults, which occurs as a result of waning immunological response, is milder and may be characterized only by persistent cough.

74. Health Content Encyclopedia Article Hereditary Angioedema
    hereditary angioedema is an inherited abnormality of the immune system thatcauses swelling, particularly of the face, and abdominal cramping.  
    http://www.baptisteast.com/adamcontent/ency/article/001456.asp

75. HEALTH INFORMATION
    hereditary angioedema hereditary angioedema an extensive site on hereditary angioedema,a rare disorder that involves deficits in the complement part of the  
    http://www.ameliaww.com/fpin/Links_Health.htm

76. ReaderBoards.com NIQ: Dyax Launches Automated Call Center To Facilitate U.S. Enr
    Dyax Launches Automated Call Center to Facilitate US Enrollment in its PhaseII Trial of DX88 for hereditary angioedema, CAMBRIDGE, Mass. Sept.  
    http://www.readerboards.com/O/NIQ/2002/10/0002.htm
    
    Extractions: CAMBRIDGE, Mass. Sept. 16, 2002Dyax Corp. (Nasdaq: DYAX) today announced the launch of an automated call center to facilitate U.S.-based patient enrollment in a second phase II clinical trial of the Company's investigational compound DX-88, for the treatment of patients with hereditary angioedema (HAE). This DX-88 study will be conducted in collaboration with Genzyme Corp., and will complement an active phase II study of DX-88 in Europe. Dyax is in the process of establishing study centers for the new trial in both the United States and Europe, and expects to study up to 48 HAE patients, with enrollment beginning in September. "Unlike in Europe and other parts of the world, hereditary angioedema patients in the United States do not have access to an approved therapy for debilitating and potentially fatal HAE attacks. We are excited that Dyax is attempting to fill this void by testing DX-88 as an acute attack therapy. The automated call center is an innovative and technologically advanced approach that will efficiently match qualified patients with the closest clinical trial center. We are also delighted that call center data will be analyzed to identify geographic patient clusters for potential additional clinical trial sites," commented Anthony Castaldo, Board Member of the Hereditary Angioedema Association, a national patient advocacy group. The automated call center, developed and hosted by Appriss, Inc. of Louisville, KY, utilizes speech recognition technology to streamline the caller screening process by confidentially collecting caller information (in compliance with all applicable laws relating to patient confidentiality), providing real-time information about open clinical trial sites. Upon caller approval, information can be transferred immediately to Dyax and active research centers in the patient's geographical area, allowing the patient to be considered for entry into the DX-88 study. Although a study site may not be immediately available in the patient's area, he or she will be notified if or when a local center becomes active. By gathering demographic information, the Appriss software can map where patients live, allowing Dyax to identify patient clusters in order to pursue additional clinical site locations.

77. Angioedema
    Resolves in hours to days. hereditary angioedema (HAE), type I Recurrent episodesinvolving both skin and mucous membranes, without urticaria. 25% mortality.  
    http://www.5mcc.com/Assets/SUMMARY/0060.html

78. Study Posting (77) -- Trial #41427, Hives (Urticaria), New Hyde Park, NY
    CenterWatch Clinical Research Trial Posting for Acute attacks of hives (hereditaryangioedema). Summary Acute attacks of hives (hereditary angioedema).  
    http://www.centerwatch.com/patient/studies/stu41427.html
    
    Extractions: Summary: Acute attacks of hives (hereditary angioedema) An Ascending Four Dose Placebo Controlled Study to Assess the Efficacy and Tolerability of DX-88 (recombinant plasma kallikrein inhibitor) Administered Following Onset of Acute Attacks of Hereditary Angioedema. You or your child may be eligible to participate in this research study being conducted by Albert Einstein College of Medicine. You or your child may be eligible if you or your child: You or your child may not be eligible if you or your child: Contact: Vincent Bonagura, MD

79. BioExchange - Life Sciences And Biotechnology Resource For E-business Services,
    In collaboration with Genzyme Corp, Dyax is currently conducting two phase II clinicalstudies of DX88 in patients with hereditary angioedema (HAE) a nine  
    http://www.bioexchange.com/news/news_page.cfm?id=16297

80. BioExchange - Life Sciences And Biotechnology Resource For E-business Services,
    Dyax Initiates EDEMA1 Phase II Trial of DX88 for hereditary angioedema. HereditaryAngioedema. The prevalence of hereditary angioedema  
    http://www.bioexchange.com/news/news_page.cfm?id=16098

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