Search results for "HEREDITARY"

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

2022

Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…

Treatment with C1-esterase inhibitor concentrate in type I or II hereditary angioedema: a systematic literature review.

2013

Hereditary angioedema (HAE) due to C1 esterase inhibitor (HAE-C1-INH) deficiency is a rare genetic disorder presenting with recurrent episodes of skin swellings, abdominal pain attacks, and potentially fatal laryngeal edema. This study was designed to review the efficacy and safety of pasteurized, human, plasma-derived C1-INH concentrate for the treatment of patients with HAE-C1-INH. A systematic search of electronic databases up to December 2011 was performed without language or date restrictions. Two reviewers completed the study selection using predefined inclusion criteria, tabulated, and analyzed the data. The data were inappropriate for meta-analysis; thus, a qualitative synthesis was…

Blindness, tetraspasticity, and other signs of irreversible brain damage in hereditary angioedema

2017

Efficacy of C1 esterase inhibitor concentrate in treatment of cutaneous attacks of hereditary angioedema.

2015

BACKGROUND Although treatment with C1 esterase inhibitor (C1-INH) concentrate is well established for hereditary angioedema (HAE) attacks in general, data that assess its efficacy for cutaneous attack treatment are sparse. OBJECTIVE To assess efficacy of plasma-derived, nanofiltered C1-INH concentrate for cutaneous attack treatment by comparing treated attacks from the uncontrolled I.M.P.A.C.T.2 study with historical data for untreated attacks. METHODS Cutaneous attack data from patients with HAE who were treated for cutaneous edema with 20 IU/kg body weight C1-INH concentrate in the uncontrolled I.M.P.A.C.T.2 study (38 patients) were compared with data from untreated patients from an histo…

Economic costs associated with acute attacks and long-term management of hereditary angioedema.

2010

Background Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent acute attacks of swelling of the larynx, abdomen, and periphery. Objective To assess the economic burden associated with acute attacks and long-term management of HAE. Methods Burden was assessed via a Web-based survey of HAE patients (≥18 years old) that solicited information on attack characterization, short-term treatment, long-term disease management, impact on work, and patient costs. A standardized instrument, the Work Productivity and Activity Impairment questionnaire, was included to assess impact on work productivity. Standard medical costs and US average wage costs were assigned…

Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, a…

2008

Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) in 2004. Objective To ensure that this consensus remains current. Methods In collaboration with the Canadian Network of Rare Blood Disorder Organizations, we held the second Canadian Consensus discussion with our international colleagues in Toronto, Ontario, on February 3, 2006, and reviewed its content at the Fifth C1 Inhibitor Deficiency Workshop in Budapest on June 2, 2007. Papers were presented by international investigators, and this consensus algorithm approach resulted. Results This consensus algorithm …

Pulmonary microvascular architecture in hereditary haemorrhagic telangiectasia

2017

A 24-year-old Caucasian man was admitted with a known hereditary haemorrhagic telangiectasia (HHT) and heterozygous mutation of factor V Leiden following episodes of cerebral infarctions in occipital lobes, cerebellum and brainstem. In his case history, the patient underwent several interventional embolisation of arteriovenous (AV) malformations in the middle and lower lobes (figure 1). However, those were not completely successful as the malformations were diffuse. We performed video-assisted thoracoscopic surgery with a resection of the middle lobe and a wedge resection of segment 10. Figure 1 CT scans depict the pulmonary arteriovenous malformations after re-embolisation in the middle lo…

Shedding some light on tricuspid intervention

2021

Background More than 1.6 million Americans have at least moderate to severe valvular tricuspid regurgitation, yet fewer than 8000 tricuspid valve operations are performed annually in the USA. The undertreatment for isolated tricuspid regurgitation might be related to the fact that in the past years no clear guidelines on 'how' and 'when' to treat tricuspid regurgitation were issued. Aims Sarris-Michopoulos and colleagues carried out a meta-analysis with the aim to investigate the role of tricuspid valve repair versus tricuspid valve replacement in patients with isolated tricuspid valve regurgitation. Material and methods Outcomes of patients with first-time surgery for isolated tricuspid va…

THE STATE OF FRACTIONAL HEREDITARY MATERIALS (FHM)

2014

The widespread interest on the hereditary behavior of biological and bioinspired materials motivates deeper studies on their macroscopic ``minimal" state. The resulting integral equations for the detected relaxation and creep power-laws, of exponent $\beta$, are characterized by fractional operators. Here strains in $SBV_{loc}$ are considered to account for time-like jumps. Consistently, starting from stresses in $L_{loc}^{r}$, $r\in [1,\beta^{-1}], \, \, \beta\in(0,1)$ we reconstruct the corresponding strain by extending a result in [42]. The ``minimal" state is explored by showing that different histories delivering the same response are such that the fractional derivative of their differ…

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study…

2020

BACKGROUND: Lynch syndrome is associated with an increased risk of colorectal cancer and with a broader spectrum of cancers, especially endometrial cancer. In 2011, our group reported long-term cancer outcomes (mean follow-up 55·7 months [SD 31·4]) for participants with Lynch syndrome enrolled into a randomised trial of daily aspirin versus placebo. This report completes the planned 10-year follow-up to allow a longer-term assessment of the effect of taking regular aspirin in this high-risk population.METHODS: In the double-blind, randomised CAPP2 trial, 861 patients from 43 international centres worldwide (707 [82%] from Europe, 112 [13%] from Australasia, 38 [4%] from Africa, and four [&l…