Results 91 to 100 of about 88,563 (282)

Telangiectasia hemorrágica hereditaria (Síndrome de Rendu-Osler-Weber)

open access: yesRevista del Hospital Italiano de Buenos Aires
La telangiectasia hemorrágica hereditaria (HHT), conocida como síndrome de Rendu-Osler-Weber, es una displasia vascular de herencia autosómica dominante que se caracteriza por la presencia de telangiectasias cutaneomucosas, frecuentes epistaxis y ...
Marcelo M. Serra
doaj  

Leczenie wybranych miejscowych objawów reakcji popromiennej po uzupełniającej radioterapii miejscowo zaawansowanego raka piersi – wskazówki praktyczne

open access: yesMenopause Review, 2011
Breast cancer is the most common type of malignancy among women in the Polish population. A majorityof breast cancer patients require radiotherapy and some of them suffer from radiation-related toxicity.
Jacek Fijuth   +3 more
doaj  

Cellular Radiosensitivity: How much better do we understand it? [PDF]

open access: yes, 2009
Purpose: Ionizing radiation exposure gives rise to a variety of lesions in DNA that result in genetic instability and potentially tumorigenesis or cell death.
Agrawal A   +214 more
core   +1 more source

Evaluating the Diagnostic Utility of Spinal Ultrasound in Neonates With a Simple Sacral Dimple: An Eight‐Year Retrospective Study

open access: yesJournal of Medical Radiation Sciences, EarlyView.
This study retrospectively analysed eight years of neonatal spinal ultrasound data from a major Australian children's hospital to assess the value of imaging for simple sacral dimples. Out of 448 scans, 195 were for an isolated simple dimple, and only two infants (1%) were found to have spinal dysraphism, both with other congenital anomalies.
Nyles Tattersall   +5 more
wiley   +1 more source

Enfermedad hepática severa por telangiectasia hemorrágica hereditaria (HHT) o síndrome de Rendu-Osler-Weber

open access: yesRevista del Hospital Italiano de Buenos Aires
La telangiectasia hemorrágica hereditaria (HHT) o síndrome de Rendu-Osler-Weber es un trastorno de herencia autosómica dominante caracterizado por telangiectasias cutaneomucosas y malformacions arteriovenosas (MAV) en órganos como cerebro, pulmón ...
Marcelo M. Serra
doaj  

Poly(ADP-Ribosyl)ation affects stabilization of CHE-1 protein in response to DNA damage [PDF]

open access: yes, 2011
Post-translation modifications play a crucial role in coordinating the cellular response to DNA damage. Double strand DNA breaks (DSBs) trigger the activation of ATM and Chk2 kinases, which represent the primary transducers in the signalling cascade ...
BACALINI, MARIA GIULIA
core  

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

open access: yesJPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso   +10 more
wiley   +1 more source

Sleep disorders and other medical and socio-demographic factors in systemic scleroderma

open access: yesEuropean Journal of Translational Myology
We aimed to investigate sleep disorders in patients with systemic scleroderma (SSc) and its relationship with socio-demographic and medical factors and to provide a suitable solution to better control the disease and improve the quality of life in these
Leyla Bagheri   +5 more
doaj   +1 more source

High-Flow Vascular Malformations in Children. [PDF]

open access: yes, 2020
Children can have a variety of intracranial vascular anomalies ranging from small and incidental with no clinical consequences to complex lesions that can cause substantial neurologic deficits, heart failure, or profoundly affect development. In contrast
Abla, Adib A   +8 more
core  

Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia [PDF]

open access: yes, 2015
Hereditary hemorrhagic telangiectasia (HHT) is mechanistically and therapeutically challenging, not only because of the molecular and cellular perturbations that generate vascular abnormalities, but also the modifications to circulatory physiology that ...
Shovlin, CL
core   +2 more sources

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