Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.23649
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor‐like kinase 1 (ALK‐1/HHT2). HHT is… read more here.
Keywords: hereditary hemorrhagic; telangiectasia; non invasive; arteriovenous malformations ... See more keywords
A case report of unexplained jejunal telangiectasia complicated with bleeding
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.01.062
Abstract: Highlights • Jejunal telangiectasia with bleeding is relatively rare in clinic.• The main clinical manifestation of small intestinal telangiectasia is hematochezia.• This disease is prone to recurrent bleeding.• There is a lack of specific and… read more here.
Keywords: telangiectasia; jejunal telangiectasia; report unexplained; unexplained jejunal ... See more keywords
New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of human genetics"
DOI: 10.1038/jhg.2017.6
Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk… read more here.
Keywords: cell acute; old boy; telangiectasia; ataxia telangiectasia ... See more keywords
Effectiveness of Person-Environment-Occupation Model on a Pediatric Neurodegenerative Disease: A Case Report of a Child with Ataxia-Telangiectasia.
Sign Up to like & getrecommendations! Published in 2022 at "Occupational therapy in health care"
DOI: 10.1080/07380577.2022.2059824
Abstract: Ataxia-telangiectasia is a rare neurodegenerative disorder characterized by progressive cerebellar ataxia, oculomotor apraxia, and choreoathetosis. Ataxia-telangiectasia is a devastating disease that negatively affects the participation of patients in daily occupations and consequently has adverse impacts… read more here.
Keywords: ataxia telangiectasia; person environment; telangiectasia; disease ... See more keywords
Ataxia telangiectasia syndrome: moonlighting ATM
Sign Up to like & getrecommendations! Published in 2017 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2017.1392856
Abstract: ABSTRACT Introduction: Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. Identification of the gene defective in this syndrome, ataxia-telangiectasia mutated gene (ATM), and further characterization of… read more here.
Keywords: telangiectasia; ataxia telangiectasia; syndrome moonlighting; telangiectasia syndrome ... See more keywords
Current and emerging pharmacotherapies for hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1353417
Abstract: ABSTRACT Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu-Osler- Weber syndrome, is a multisystemic vascular rare disease characterized by localized angiodysplasia. It is an inherited autosomal dominant disease. The estimated prevalence is around 1 in 5,000.… read more here.
Keywords: hereditary hemorrhagic; current emerging; telangiectasia; pharmacotherapies hereditary ... See more keywords
Severe anemia caused by hereditary hemorrhagic telangiectasia in a patient with Sjögren's syndrome and primary biliary cirrhosis
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000434
Abstract: To the Editor: A 63-year-old Chinese woman was presented to West China Hospital complaining of dry eyes and mouth for 40 years and repeated epistaxis for 2 years. She was diagnosed with iron deficiency anemia… read more here.
Keywords: iron; telangiectasia; primary biliary; gren syndrome ... See more keywords
Postrhytidectomy Lateral Face Telangiectasia.
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Surgery"
DOI: 10.1097/dss.0000000000002374
Abstract: In 1981, Noe and colleagues described a persistent erythema on the nose seen after postrhinoplasty. In these patients with the “postrhinoplasty red nose syndrome” individuals developed telangiectasia of the nasal dorsum, ala and columella after… read more here.
Keywords: lateral face; telangiectasia; surgery; postrhytidectomy lateral ... See more keywords
Clinical features and treatment of hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000011687
Abstract: Abstract Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by vascular dysplasia, including typically systemic telangiectases and arteriovenous malformations (AVMs). Due to its variable clinical manifestations, HHT patients often seek medical care… read more here.
Keywords: features treatment; clinical features; hereditary hemorrhagic; treatment ... See more keywords
Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001005
Abstract: Immune dysregulation and predisposition to malignancies are critical comorbidities in children affected with ataxia telangiectasia. In addition, these children exhibit increased toxicity to conventional cancer therapy and dose reductions have been proposed to prevent life… read more here.
Keywords: predisposition; telangiectasia; ataxia telangiectasia; challenges management ... See more keywords
CPC04: Immune checkpoint inhibitor therapy and psoriasis: a case series
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Dermatology"
DOI: 10.1111/bjd.21104
Abstract: CPC03 Generalized essential telangiectasia response to treatment with oral dabigatran: a case report Elian Karim, Anna Ascott, Christine Aziz and Arjida Woollons Brighton & Sussex Medical School, Brighton, UK; and University Hospitals Sussex NHS Foundation… read more here.
Keywords: telangiectasia; lower limbs; therapy; case ... See more keywords