Results 61 to 70 of about 3,171 (206)

Effective Management of Type III Hereditary Angioedema with Lanadelumab: A Case Report

Journal of Human Immunity
IntroductionHereditary angioedema is a rare disorder characterized by recurrent episodes of edema in the skin and mucous membranes caused by a quantitative or qualitative defect in the C1 inhibitor, with a consequent exaggerated production of bradykinin.
C.M. Chackelevicius, J.C. Abuin
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency

, 2011
Henriette Farkas, Lilian Varga3rd Department of Internal Medicine, Semmelweis University, Budapest, HungaryAbstract: Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor protein is a rare disease, characterized by paroxysms of ...
null Varga, Henriette Farkas, Farkas H, Varga L   +3 more
core   +1 more source

Hereditary angioedema with normal C1-inhibitor levels: a rare case report

Revista Portuguesa de Medicina Geral e Familiar
Hereditary angioedema (HAE) is a rare, hereditary disease and its manifestations may be life-threatening. It differs from histaminergic angioedema since it shows different underlying mechanisms and, therefore, does not respond to antihistamine or ...
Filipa Rodrigues dos Santos, Inês Falcão, Leonor Cunha   +2 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation

, 2022
Hereditary angioedema is a rare, genetic disorder characterized by painful, debilitating and potentially life-threatening angioedema attacks in subcutaneous and submucosal tissue.
Fijen, Lauré M., Cohn, Danny M., Levi, Marcel M., Petersen, Remy S.   +3 more
core   +1 more source

Hospitalizations due to Angioedema without Urticaria in a Portuguese Center: Five Year Retrospective Study

Acta Médica Portuguesa, 2019
Introduction: Hospitalizations due to angioedema are important especially in debilitating or life-threatening situations. The aim of this study was to evaluate the frequency and etiology of angioedema without urticaria in hospital admissions.
Joana Cosme, Amélia Spínola, Manuel Branco Ferreira, Manuel Pereira Barbosa   +3 more
doaj   +1 more source

Recurrent Angioedema with Abdominal and Genital Involvement in Childhood: Hereditary Angioedema Type 2 Disease due to C1 Inhibitor Functional Deficiency

İstanbul Medical Journal, 2020
Hereditary angioedema is a rare disorder characterized by recurrent angioedema attacks due to C1 inhibitor antigen or functional deficiency. Here, two cases with recurrent swelling on extremities, genital organs and face that were later diagnosed with C1
Öner Özdemir, Halime Çiçek
doaj   +1 more source

Prevention of Recurrent Attacks of Hereditary Angioedema (HAE): Berotralstat and Its Oral Bioavailability

, 2023
Maximiliano Diaz-Menindez,1 Dan Morgenstern-Kaplan,2 Lyda Cuervo-Pardo,3 Santiago Alvarez-Arango,4,5 Alexei Gonzalez-Estrada6 1Division of Pulmonary, Allergy, and Sleep Medicine, Department of Medicine, Mayo Clinic, Jacksonville, FL, USA; 2Department of ...
Diaz-Menindez M, Cuervo-Pardo L, Morgenstern-Kaplan D, Alvarez-Arango S, Gonzalez-Estrada A   +4 more
core  

The hereditary angioedema syndromes [PDF]

Journal of Clinical Investigation, 2018
Hereditary angioedema (HAE) is a rare genetic disorder primarily caused by mutations in the SERPING1 gene encoding the C1 inhibitor (C1INH) that leads to plasma deficiency, resulting in recurrent attacks of severe swelling. In the current issue of the JCI, Haslund et al.
openaire   +2 more sources