Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At time, main severity groups defined in A-T: classic (the more severe form) mild. Poor growth common problem A-T. An objective study was to develop references for Another compare patterns A-T mild wit...

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an inherited disorder characterized by vascular dysplasias leading to hemorrhages. If affects approximately 1 in 10,000 Caucasian people. The most common presentation chronic and recurrent epistaxis whereas bleeding from other sites can lead life-threatening complications.

This is the first scientific report of hereditary hemorrhagic telangiectasia (HHT) epistaxis treatment by intranasal spraying of the vascular endothelial growth factor (VEGF) inhibitor bevacizumab (Avastin). Epistaxis in patients with HHT is a morbid, mortal condition that is difficult and unpleasant to manage. Nasal telangiectasia growth is modulated by VEGF, which is elevated in HHT patients....

A 56 year old woman was referred by her general practitioner with ongoing malaise. She had a history of recurrent epistaxis. On examination, there was extensive mucocutaneous telangiectasia (Figure 1). Her father and brother have a history of epistaxis and facial telangiectasia. Her presenting haemoglobin was 6.6 g/dl (normal, 13.0-18.0 g/dl), microcytic picture and ferritin of 3 ng/ml (normal,...

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin f...

Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma...