Search results for "Ectasia"
showing 10 items of 60 documents
Health‐Related Quality of Life in Hereditary Hemorrhagic Telangiectasia
2007
Objective To assess and differentiate the health-related quality of life (HR-QoL) in patients with hereditary hemorrhagic telangiectasia (HHT). Study Design and Setting A prospective, open, cross-sectional questionnaire-based study (including the Short Form-36 Health Survey [SF-36]) performed by a tertiary care center. Results A total of 77 patients (36 females) were included. Except for one domain (bodily pain), the scores for all scales of the SF-36 were significantly reduced in comparison with normative data. The duration of epistaxis, the presence of hepatic involvement and gastrointestinal bleeding, and the number of visible telangiectases correlated with lower scores on several scales…
Corneo-scleral contact lens in a piggyback system for keratoconus: A case report.
2017
Purpose: We describe a case of fitting a corneo-scleral contact lens with a multi-aspheric geometry design (MAGD CScL) on top of a daily silicone hydrogel lens (piggyback system) for keratoconus management. Methods: A 48-year-old man using soft toric contact lenses required an improvement in the unsatisfactory quality of his vision. He presented with bilateral asymmetric keratoconus with high myopia in the right eye (RE) and severe myopia in the left eye (LE). In addition, he had low vision in his LE because of a maculopathy. He was fitted with MAGD CScL to correct his irregular astigmatism. A diagnostic trial set was used in the fitting process and the patient was assessed according to a s…
Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia—A Nationwide Register-Based Cohort Study in Germany
2021
PURPOSE Fanconi anemia (FA) and ataxia-telangiectasia (AT) are rare inherited syndromes characterized by abnormal DNA damage response and caused by pathogenic variants in key DNA repair proteins that are also relevant in the pathogenesis of breast cancer and other cancer types. The risk of cancer in children with these diseases is poorly understood and has never been assessed in a population-based cohort before. METHODS We identified 421 patients with FA and 160 patients with AT diagnosed between 1973 and 2020 through German DNA repair disorder reference laboratories. We linked patients' laboratory data with childhood cancer data from the German Childhood Cancer Registry. RESULTS Among 421 …
Initial experience with a new method of external polyester scaffolding for infrainguinal vein grafts.
2009
Abstract Objectives This study aims to evaluate the feasibility of external polyester scaffolding in infrainguinal bypass grafting when available vein material is suboptimal due to varicosity or dilatation. Primary objectives were short-term primary patency, assisted primary patency and secondary patency. Secondary objectives were to assess the rate of graft stenoses, infections and other adverse effects related to the use of external scaffolding. Materials and methods A total of 50 consecutive patients were included in this prospective, multicentre, feasibility study from six centres. The indication for infrainguinal bypass was critical limb ischaemia (64%), severe claudication (34%) or po…
Chest pain due to late huge coronary pseudoaneurysm following stent implantation
2011
A 50-year-old man was referred to our hospital because of persistent atypical chest pain. His past medical history was remarkable for a non ST elevation myocardial infarction, treated five months previously with PCI on the right coronary artery. Two months later, for chest pain, he underwent coronary angiography that showed a right coronary artery with slight ectasia near the stent. Five months later for the persistence of atypical chest pain he came to our clinic. Chest CT showed a 31.5 mm hematoma of the right coronary artery. Coronary angiography revealed a giant aneurysm, proximal to the stent. In the light of rapid growth of aneurysm, the risk of rupture and symptoms, we decided to tre…
Corneo-scleral contact lenses in an uncommon case of keratoconus with high hyperopia and astigmatism
2017
Purpose: To analyse the visual quality achieved by fitting corneo-scleral contact lenses (CScL) in an uncommon case of bilateral keratoconus, high hyperopia and astigmatism. Methods: A 45-year-old man presented for eye examination due to the unsatisfactory quality of his vision wearing soft toric contact lenses. He presented high hyperopia and astigmatism with bilateral keratoconus. He was fitted with CScL to correct his irregular astigmatism and ocular aberrations. A diagnostic trial set was used in the fitting process and he was assessed according to standardised fitting methodology. Visual acuity, corneal topography, biometry and ocular aberrations were evaluated. The follow-up period wa…
[Coronary artery ectasia: etiopathogenesis, diagnosis and treatment].
2014
Coronary ectasia is a dilation of coronary arteries, angiographically defined if the diameter of the artery is ≥ 1.5 times greater than that of the intact adjacent vascular segment. An association has been found between coronary artery ectasia and a broad spectrum of different diseases, first of all atherosclerotic coronary artery disease. The mechanisms that determine the abnormal dilatation of the vascular lumen and the etiology of coronary artery ectasia are still poorly understood. Various hypotheses have been formulated over the time, the most accredited between these recognizes as main responsible an uncontrolled activity of a particular family of enzymes that degrade the extracellula…
germline mutations in women with familial breast cancer and a relative with haematological malignancy
2009
Biallelic inactivation of the ATM gene causes ataxia-telangiectasia (A-T), a complex neurological disease associated with a high risk of leukaemias and lymphomas. Mothers of A-T children, obligate ATM heterozygote mutation carriers, have a breast cancer (BC) relative risk of about 3. The frequency of ATM carriers in BC women with a BC family history has been estimated to be 2.70%. To further our clinical understanding of familial BC and examine whether haematological malignancies are predictive of ATM germline mutation, we estimated the frequency of heterozygote mutation carriers in a series of 122 BC women with a family history of both BC and haematological malignancy and without BRCA1/2 m…
Primary biliary cirrhosis and hereditary hemorrhagic telangiectasia: When two rare diseases coexist
2013
Primary biliary cirrhosis is a slowly progressive cholestatic autoimmune liver disease that mainly affects middle- aged women with an estimated prevalence ranging from 6.7 to 402 cases per million. Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that can affect many organs, including liver, with a prevalence of 1-2 cases per 10000. We describe the coexistence, for the first time to our knowledge, of these two rare diseases in a 50-year old Caucasian woman. In this setting, the relevance of an accurate medical history, the role of liver histology an…
Gene amplification in fibroblasts from ataxia telangiectasia (AT) patients and in X-ray hypersensitive AT-like Chinese hamster mutants.
2001
In search of functions involved in the regulation of gene amplification, and given the relevance of chromosome breakage in initiating the process, we analyzed the gene amplification ability of cells hypersensitive to inducers of DNA double-strand breaks and defective in cell cycle control: two human fibroblast strains derived from patients affected by ataxia telangiectasia (AT) and two hamster mutant cell lines belonging to complementation group XRCC8 of the rodent X-ray-sensitive mutants. These mutants are considered hamster models of AT cells. To measure gene amplification, the frequency and the rate of occurrence of N-(phosphonacetyl)-L-aspartate resistant cells were determined. In both …