Search results for "Telangiectasia"
showing 10 items of 32 documents
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 …
DNA damage-induced cell death by apoptosis
2006
Following the induction of DNA damage, a prominent route of cell inactivation is apoptosis. During the last ten years, specific DNA lesions that trigger apoptosis have been identified. These include O6-methylguanine, base N-alkylations, bulky DNA adducts, DNA cross-links and DNA double-strand breaks (DSBs). Repair of these lesions are important in preventing apoptosis. An exception is O6-methylguanine-thymine lesions, which require mismatch repair for triggering apoptosis. Apoptosis induced by many chemical genotoxins is the consequence of blockage of DNA replication, which leads to collapse of replication forks and DSB formation. These DSBs are thought to be crucial downstream apoptosis-tr…
Loss of ATM sensitizes against O6-methylguanine triggered apoptosis, SCEs and chromosomal aberrations.
2003
A critical pre-cytotoxic and -apoptotic DNA lesion induced by methylating carcinogens and chemotherapeutic drugs is O6-methylguanine (O6MeG). The mechanism by which O6MeG causes cell death via apoptosis is only partially understood. The current model ascribes a role to DNA replication and mismatch repair, which converts O6MeG into a critical distal lesion (presumably a DNA double-strand break) that is finally responsible for genotoxicity and apoptosis. Here we analysed whether the PI3-like kinase ATM is involved in this process. ATM is a major player in recognizing and signaling DNA breaks, but most reports are limited to ionizing radiation. Comparing mouse ATM knockout fibroblasts (ATM-/-)…
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…
ATR-FTIR spectroscopy as a quality control system for monitoring the storage of blood products
2021
Blood screening is a fundamental part of disease diagnosis and monitoring health. Attenuated total reflectance Fourier transform infrared (ATR-FTIR) spectroscopy offers an innovative solution to streamlining the process, especially for multianalyte detection in aqueous samples. However, samples always undergo a storage phase before they are processed for testing and blood transfusion. In this study, we investigated the effect of standard storage procedures on the macromolecular composition of whole blood, and plasma collected in blood tubes for diagnostic purposes and initial screening of blood products. Periphery blood samples were collected from 10 volunteers and then stored for 14 days a…
Type 1 macular telangiectasia
2018
L’identification à l’examen clinique de petites dilatations anévrismales et d’ectasies paracentrales fait évoquer le diagnostic de télangiectasies maculaires. Celles-ci sont le plus souvent secondaires à une pathologie, notamment au diabète, aux occlusions veineuses, aux vascularites, à un néovaisseau choroïdien de type 3, etc. Le contexte et le reste de l’examen identifieront généralement l’affection primitive. Les télangiectasies maculaires de type 1 (MacTel 1) sont idiopathiques sans cause retrouvée. Ce sont des affections rares, en grande majorité unilatérales, touchant préférentiellement l’homme d’âge moyen (1).
A new technique for the treatment of nasal telangiectasia using atmospheric plasma (voltaic arc dermabrasion): Postoperative pain assessment by therm…
2020
Background Nasal telangiectasias are superficial, small vessels in the ala nasi and nasolabial crease with a varying origin. They represent an unaesthetic condition, frustrating patients who frequently request their removal. Microsclerotherapy, electrosurgery, different types of laser therapy, needle-assisted electrocoagulation, and TRASER therapy have been described for treating this condition. Aims The aim of this study is to describe a novel technique that removes nasal telengectiasias using voltaic arc dermabrasion (VAD). Patients/methods Voltaic arc dermabrasion treatment was used to remove nasal telangiectasia in 23 patients. The post-treatment condition was monitored by means of phot…
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
2011
A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…