Results 71 to 80 of about 12,349 (241)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

A narrative review of recent literature of the quality of life in hereditary angioedema patients

World Allergy Organization Journal, 2023
Hereditary angioedema (HAE) is a rare disorder that causes unpredictable and debilitating cutaneous and submucosal edema and can lead to death. HAE can impair patients' ability to perform daily activities, proportional to pain severity, with patients ...
Herberto José Chong-Neto
doaj   +1 more source

Angioedema quality of life questionnaire (AE-QoL) - interpretability and sensitivity to change [PDF]

, 2019
BACKGROUND: The Angioedema Quality of Life (AE-QoL) is the first patient reported outcome measure developed for the assessment of quality of life (QoL) impairment in patients with recurrent angioedema (RAE).
Chularojanamontri, Leena, Kulthanan, Kanokvalai, Maurer, Marcus, Rujitharanawong, Chuda, Weerasubpong, Puncharas, Weller, Karsten   +5 more
core   +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 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

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

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

Clinical characteristics of immediate allergic adverse reactions to intravenous amoxicillin‒clavulanic acid in conscious dogs

Veterinary Record, EarlyView.
Abstract Background Amoxicillin‒clavulanic acid (AMC) is one of the most frequently used antibiotics in small animal practice, and reports on adverse reactions are scarce. The aim of this study was to describe the clinical characteristics of immediate allergic adverse reactions to intravenous (IV) AMC in conscious dogs. Methods The medical records of a
Leonel Frutuoso, Anna Threlfall
wiley   +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

Quantification of human complement C2 protein using an automated turbidimetric immunoassay [PDF]

, 2018
Background: The measurement of complement components is clinically useful where a deficiency is suspected, or where excessive activation and consumption are present in disease.
Brohet, Fabian, Cook, Alex, El-Shanawany, Tariq, Harding, Stephen, Johnson-Brett, Bridget, Jolles, Stephen, Parker, Antony Richard, Ponsford, Mark, Roberts, Andrew, Steven, Rachel, Stordeur, Patrick, Tange, Clare Elizabeth, Wallis, Gregg   +12 more
core   +2 more sources