Results 31 to 40 of about 3,171 (206)

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

Journal of Medical Internet Research, 2020
BackgroundHereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration.
Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos   +11 more
doaj   +1 more source

Patient-reported Outcome Measures for Angioedema: A Literature Review

Acta Dermato-Venereologica, 2021
Angioedema and hereditary angioedema are characterized by swelling of the subcutaneous and/or submucosal tissue, resulting in localized oedema. The rarity, but also the diverse clinical presentation, of these conditions can be challenging regarding ...
Anna Trier Heiberg Brix, Henrik Balle Boysen, Karsten Weller, Teresa Caballero, Anette Bygum   +4 more
doaj   +1 more source

Effectiveness of an Educational Program in Empowering Nursing Students' Knowledge Regarding Hereditary Angioedema [PDF]

Egyptian Journal of Health Care
Background: Hereditary Angioedema (HAE) is a rare genetic condition that can be life-threatening and profoundly affect the lives of those who are affected.
Amany Lotfy Ahmed, Nabila Salem Mohammed, Amany Abdelfattah Omran   +2 more
doaj   +1 more source

Recurrent angioedema in childhood: hereditary angioedema or histaminergic angioedema?

, 2021
Background Recurrent angioedema is a rare entity during childhood. This study aimed to clarify differences between hereditary angioedema (HAE) and histaminergic angioedema (HA) in ...
ŞAHİNER, ÜMİT MURAT, Ercan Nain, Akin, Mustafa Senol, UYSAL SOYER, ÖZGE, Bülent Enis Şekerel, Ocak, Melike, Nain, Ercan, Melike Ocak, Esra Karabiber, Karabiber, Esra, Özge Soyer, Mustafa Şenol Akin, Ümit Murat Şahiner, ŞEKEREL, BÜLENT ENİS   +13 more
core   +1 more source

Pathophysiology and underlying mechanisms in hereditary angioedema.

, 2021
This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss of control
López Lera, Alberto
core   +1 more source

WAO guideline for the management of hereditary angioedema

, 2012
Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers.
Ruby Pawankar, Richard Lockey, Magerl, Markus, Bowen, Tom, Lumry, William, Pawankar, Ruby, Craig, Timothy P., Craig, Timothy, Emel Aygören Pürsün, Anete Grumach, Bork, Konrad, Ritchie, Bruce, Katelaris, Constance H. (R12307), Bruce Zuraw, Alexander Nast, Farkas, Henrietta, Farkas, Henriette, Longhurst, Hilary, Martinez-Saguer, Immaculada, Nast, Alexander, Marcus Maurer, Henriette Farkas, Markus Magerl, Lockey, Richard, William Lumry, Tom Bowen, Zuraw, Bruce, Boysen, Henrik B., Martinez Saguer, Inmaculada, Konrad Bork, Grumach, Anete, Katelaris, Constance H., Hilary Longhurst, Aygören-Pürsün, Emel, Maurer, Marcus, Immaculada Martinez-Saguer, Bruce Ritchie, Henrik Boysen, Constance H. Katelaris, Timothy Craig   +39 more
core   +1 more source

"They are closely interconnected, complement each other and pass into each other, there are no clear boundaries between them". Case report

Кардиоваскулярная терапия и профилактика, 2023
Hereditary angioedema is a rare (1:50,000) hereditary chronic disease from the group of primary immunodeficiencies, which manifests in the form of recurrent skin and mucous membrane edema of the respiratory tract and gastrointestinal tract.Pathogenesis ...
E. A. Rogozhkina, A. I. Ershova, E. Yu. Andreenko, S. A. Beregovskaya   +3 more
doaj   +1 more source

Risk of angioedema following invasive or surgical procedures in HAE type I and II : the natural history

, 2013
Background: Hereditary angioedema (HAE), caused by deficiency in C1-inhibitor (C1-INH), leads to unpredictable edema of subcutaneous tissues with potentially fatal complications.
Aygören-Pürsün, Emel, Kreuz, Wolfhart, Martinez Saguer, Inmaculada, Klingebiel, Thomas, Schwabe, Dirk   +4 more
core   +1 more source

Epidermal METTL1‐Mediated m7G Modification Drives Psoriatic Inflammation by Stabilizing Bdkrb1 and Orchestrating Neutrophil Recruitment

Advanced Science, EarlyView.
This study unveils an unrecognized pro‐inflammatory epitranscriptomic checkpoint in psoriasis. By installing m7G modifications on the 5′ UTR of Bdkrb1 mRNA, METTL1 enhances receptor stability to orchestrate keratinocyte‐driven neutrophil recruitment via p38 MAPK signaling.
Chang Zhang, Jiayi Lu, Sihao Yan, Yirui Wang, Zhuo Li, Weiwei Chen, Yang Han, Ziyan Zhang, Yafen Yu, Qi Zhen, Liangdan Sun   +10 more
wiley   +1 more source

Angioedema without wheals: a clinical update

, 2021
Angioedema without wheals (urticaria) represents a heterogeneous group of clinically indistinguishable diseases of hereditary or acquired etiology. Hereditary angioedema is a rare inherited condition leading to recurrent, sometimes life-threatening ...
Gulbahar, Okan, Okan Gülbahar
core   +1 more source