Results 21 to 30 of about 26,472 (244)

Pediatric hereditary angioedema due to C1-inhibitor deficiency

Allergy, Asthma & Clinical Immunology, 2010
Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor (C1-INH) is a rare, life-threatening disorder. It is characterized by attacks of angioedema involving the skin and/or the mucosa of the upper airways, as well as the intestinal
Farkas Henriette
doaj   +1 more source

The deficiency of C1 inhibitor and its treatment

Immunobiology, 2007
In this article, we review the traditional therapies of hereditary angioedema (HAE) that have been used for several years. Some of these therapies were proposed before the definition of the underlying defect and the understanding of the pathogenesis of the disease. We also describe new compounds under investigation at present as potential therapies for
M. Cicardi, L.C. Zingale
openaire   +2 more sources

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

Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges

Acta Clinica Croatica, 2019
Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin ...
Ljerka Karadža-Lapić, Marko Barešić, Renata Vrsalović, Irena Ivković-Jureković, Saša Sršen, Ingrid Prkačin, Matija Rijavec, Draško Cikojević   +7 more
doaj   +1 more source

Practical Management of C1 Inhibitor Deficiency

Actas Dermo-Sifiliográficas (English Edition), 2007
C1 inhibitor deficiency is a rare syndrome clinically characterized by recurrent episodes of swelling of subcutaneous tissue or angioedema. It can involve the skin, upper respiratory airways and abdomen. There are two main types: hereditary and acquired. Angioedema can involve practically any part of the cutaneous surface, it can cause lethal laryngeal
J, Pedraz, E, Daudén, A, García-Diez
openaire   +2 more sources

Successful C1 inhibitor short-term prophylaxis during redo mitral valve replacement in a patient with hereditary angioedema

Journal of Cardiothoracic Surgery, 2010
Hereditary angioedema is characterized by sudden episodes of nonpitting edema that cause discomfort and pain. Typically the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx are affected by attacks of swelling.
Coleman Suzanne, Bernstein Jonathan A, Bonnin Arturo J   +2 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Successful long-term prophylaxis of hereditary pregnancy-associated angioedema with plasma-derived C1-inhibitor concentrate: a case report

Медицинская иммунология, 2021
Hereditary angioedema (HAE) is a rare autosomal dominant disease caused by quantitative (type I) or functional (type II) deficiency in C1 esterase inhibitor (C1-INH). It may be caused by new mutations in up to 20% of patients.
D. V. Demina, A. O. Makeeva, L. M. Kudelya, E. V. Novikova, V. A. Kozlov   +4 more
doaj   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source