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Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations.
Orphanet J Rare Dis
December 2024
HHT Unit. Hospital Universitari Bellvitge, C/Feixa Llarga S/N. L'Hospitalet de Llobregat, 08907, Barcelona, Spain.
Background: Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life.
View Article and Find Full Text PDFPost-marketing safety surveillance of ado-trastuzumab emtansine: a real-world data retrospective cohort study using disproportionality analysis.
Expert Opin Drug Saf
December 2024
Department of Breast Surgery, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Article Synopsis
- Ado-trastuzumab emtansine (T-DM1) is used for treating HER2-positive breast cancer but has potential adverse events (AEs) that need careful evaluation.* -
- A comprehensive study analyzed 3,699 patient reports from 2013 to 2022, identifying new bleeding-related AEs and highlighting bleeding in the digestive, respiratory, and nervous systems.* -
- This analysis is the most thorough on T-DM1-induced hemorrhages, aiming to enhance understanding of these severe complications and guide future research.*
Spontaneous Ischemic Cholecystitis in a Patient with Hereditary Hemorrhagic Telangiectasia (HHT).
J Clin Med
November 2024
Department of Digestive Surgery and Emergency Surgery, Edouard Herriot Hospital, Hospices Civils de Lyon, 69002 Lyon, France.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to recurrent epistaxis, cutaneous and mucosal telangiectases, and visceral arteriovenous malformations (AVMs). Hepatic involvement may result in complications such as high-output heart failure, portal hypertension, and biliary ischemia. We report an uncommon case of ischemic cholecystitis in a patient with HHT.
View Article and Find Full Text PDFOverlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.
Fam Cancer
November 2024
A.R.G. (Argentine Rendu Study Group), Ciudad Autónoma de Buenos Aires, Argentina.
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS.
View Article and Find Full Text PDFUSP15 regulates radiation-induced DNA damage and intestinal injury through K48-linked deubiquitination and stabilisation of ATM.
Mol Med
November 2024
Suzhou Key Laboratory for Radiation Oncology, Department of Radiotherapy and Oncology, The Second Affiliated Hospital of Soochow University, Suzhou, 215004, China.
Background: Radiation-induced intestinal injury (RIII) interrupts the scheduled processes of abdominal and pelvic radiotherapy (RT) and compromises the quality of life of cancer survivors. However, the specific regulators and mechanisms underlying the effects of RIII remain unknown. The biological effects of RT are caused primarily by DNA damage, and ataxia telangiectasia mutated (ATM) is a core protein of the DNA damage response (DDR).
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