Results 1 to 10 of about 88,563 (282)
Arquivos de Neuro-Psiquiatria, 2015 Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies.
Letícia Sauma +2 more
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Proceedings of the Royal Society of Medicine, 1970 The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Tattersall, P J, Toghill
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Percutaneous laser coagulation of dilated intradermal veins: from theory to practice
Амбулаторная хирургия, 2023 Review authors consider the current possibilities of percutaneous laser coagulation for telangiectasias and reticular veins, which are the most common cosmetic defects of vascular genesis, occurring in more than 80% of women of different age groups. This
V. Yu. Bogachev +2 more
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An uncommon case of cutaneous collagenous vasculopathy [PDF]
JAAD Case ReportsTrina Nguyen, BS +3 more
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Archives of Medicine and Health Sciences, 2023 Background and Aims: Systemic sclerosis is an autoimmune disease, of which cutaneous sclerosis is a cardinal feature. Other skin manifestations include Raynaud's phenomenon, digital ulcers, gangrene, flexion contractures, and telangiectasias.
Priya Sara Kuryan +4 more
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Annals of Hepatology, 2023 Introduction and Objectives: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular dysplasia affecting 1/5000 individuals. Epistaxis, mucocutaneous telangiectasias and vascular malformations affecting internal organs (brain, lungs,
Carolina Vazquez +2 more
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Uso de tartarato de brimonidina para resolução de matting telangiectásico: relato de caso
Jornal Vascular Brasileiro, 2020 Resumo A escleroterapia é, atualmente, o tratamento de escolha para telangiectasias e veias reticulares, apresentando nível de recomendação 1ª pela diretriz europeia para escleroterapia.
Brenno Augusto Seabra de Mello Netto +5 more
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Ataxia telangiectasia: a review
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
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A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center
Annals of Movement Disorders, 2020 INTRODUCTION: Ataxia telangiectasia (AT) is an autosomal-recessive disease, characterized by progressive cerebellar degeneration, mucocutaneous telangiectasia, immunodeficiency, recurrent sinopulmonary infections, sensitivity to radiation, and increased ...
Manjunath Mahadevappa +5 more
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Clinical manifestation, course and treatment results of Coats disease in children
Российский офтальмологический журнал, 2023 Purpose: to analyze the clinical manifestations, course, and results of treatment of Coats disease in children. Materials and methods. We performed a retrospective analysis of medical records of 59 patients with Coats retinitis (83 % were boys) who had ...
L. V. Kogoleva +6 more
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