Search results for "HEREDITARY"
showing 10 items of 650 documents
Treatment With Pasteurized C1 Inhibitor Concentrate In Skin Swelling Attacks Of Patients With Hereditary Angioedema
2007
C1 Inhibitor for Routine Prophylaxis in Patients with Hereditary Angioedema: Interim Results from a European Registry Study
2016
Successful Extubation With Use of C1 Esterase Inhibitor Concentrate in a Patient With Hereditary Angioedema: In Response
2000
Case report of a large cephalic vein aneurysm inducing heart failure in a renal transplant patient with radio-cephalic fistula for haemodialysis
2020
Highlights • The venous aneurysm is one of the most common complications of autologous AVF. • The vein aneurysm should be treat by surgical resection and anastomotic ligature. • AVF shouldn’t be ligated from 1-year kidney transplantation except in some cases. • Surgical ligation to prevent complications could be considered an option.
Impact of Cumulative Dose of Carfilzomib in Combination with Lenalidomide and Dexamethasone in Relapsed Refractory Myeloma Patients: A Retrospective …
2018
Abstract Background: Triplet-based lenalidomide plus dexamethasone (Rd) combinations have become the new standard of care for early relapse and refractory multiple myeloma (RRMM). Carfilzomib is a novel selective proteasome inhibitor (PI) with high efficacy in RRMM. The ASPIRE phase 3 trial showed the superiority of carfilzomib-based triplet (KRd compared to Rd), leading to approval of K for RRMM. However, little is known about safety and efficacy of KRd outside a clinical trial context. Experimental design and aims: In 11 Sicilian Centers belonging to the Sicilian Myeloma Network, from November 2016, when KRd regimen was approved in Italy, to June 2018, 103 consecutive RRMM patients (previ…
Patient preferences in the treatment of hemophilia A: impact of storage conditions on product choice
2018
Bernd Tischer,1 Renato Marino,2 Mariasanta Napolitano3 1Kantar Health, Munich, Germany; 2Haemophilia and Thrombosis Centre, University Hospital of Bari, Apulia, Italy; 3University of Palermo, Reference Regional Center for Thrombosis and Hemostasis Hematology Unit, Palermo, Italy Objectives: To gain insights into the usage of factor VIII (FVIII) products by patients diagnosed with moderate/severe hemophilia A, and to assess the impact and perceived importance of product storage.Methods: In this study, 200 patients diagnosed with moderate or severe hemophilia A across seven countries participated. Data were collected via a 30-minute, face-to-face interview in six countries and via a web-based…
Use of wearable cardioverter‐defibrillator in association with catheter ablation for atrial fibrillation‐related tachycardiomyopathy
2019
Implantable cardioverter‐defibrillator (ICD) implantation is not indicated in patients with potentially transient or reversible causes of sudden cardiac death (SCD). Wearable cardioverter‐defibrillator (WCD) is increasingly used for SCD prevention in patients who are temporary at high risk of ventricular arrhythmia. Hereby, we describe a case of tachycardiomyopathy successfully managed with ablation and WCD backup. Implantable cardioverter‐defibrillators are a Class I indication by American College of Cardiology/American Heart Association/Heart Rhythm Society guidelines to prevent SCD in patients with nonischemic dilated cardiomyopathy, New York Heart Association (NYHA) functional class II …
Pasteurized C1 inhibitor concentrate in hereditary angioedema: pharmacology, safety, efficacy and future directions
2010
Hereditary angioedema (HAE) is a relatively rare genetic disorder that is most commonly caused by a deficiency of C1 inhibitor. It is estimated that HAE affects at least one in 10,000 to one in 50,000 of the worldwide population, with relapsing swelling of the skin and abdominal pain attacks being the most common clinical symptoms. Most seriously, laryngeal edema associated with HAE may lead to death. Replacement therapy with intravenous pasteurized C1 inhibitor concentrate is the recommended treatment for acute attacks of HAE, resulting in a rapid resolution of symptoms. Pasteurized C1 inhibitor concentrates can also be used for prophylaxis of HAE, and are currently also being assessed for…
Clinical and genetic update of corneal dystrophies.
2019
The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlatio…