Results 91 to 100 of about 61,429 (293)

Hereditary Hemorrhagic Telangiectasia - a literature review

Journal of Education, Health and Sport
Introduction and purpose: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and complex vascular disorder characterized by abnormal blood vessel formation.
Marcel Stodolak, Aleksandra Krużel, Kamil Kłos, Piotr Sajdak, Justyna Tomasik, Marika Dębik, Łukasz Szydłowski, Klaudia Żurowska, Seweryn Ziajor, Artur Bednarski, Mikołaj Turski   +10 more
doaj   +1 more source

Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia

, 2007
Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. These patients are also hypersensitive to radiotherapy.
Bottle, S (15815519), Gatti, RA (15577919), Lavin, MF (15537797), Nuri Guven (14738161)   +3 more
core  

Efficacy of Intravitreal Bevacizumab in Treatment of Proliferative Type 2 Idiopathic Juxtafoveal Telangiectasia

, 2017
Objectives: To evaluate the effectiveness of intravitreal bevacizumab (IVB) in patients with subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia. Materials and Methods: Ten eyes of 10 patients were included in this retrospective
Abdullah Özkaya, Ökkeş Baz, Muhittin Taşkapılı, İhsan Yılmaz, Ali Demircan, Cengiz Alagöz, İrfan Perente   +6 more
core   +1 more source

Validated, Reliable, and Novel Skin Frailty Scale for Outpatient Usage and Its Association With Age, Sex, and Non‐Melanoma Skin Cancer: An Observational Study

JEADV Clinical Practice, EarlyView.
Skin frailty (SF) is a common condition affecting adults aged ≥65 years. However, the lack of a validated and reliable visual scale to assess SF severity is a barrier to clinical care and research. In this study, we developed a 9‐parameter Skin Frailty Score (SFS), validated by two board‐certified dermatologists and meeting item and scale level content
Po‐Han Ho, Farah Abou‐Taleb, Shufeng Li, Kiana Yekrang, Vijaytha Muralidharan, Pirunthan Pathmarajah, Sophia Katherine Longo, Zakia Rahman, Albert Sean Chiou, Anne Lynn S. Chang   +9 more
wiley   +1 more source

Ataxia-telangiectasia: future prospects

, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Al-Baradie RS, Chaudhary MW
core  

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

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

European 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, Hoda Kavosi, Nasim Shokouhi, Shila Aghayani, Khosro Sadeghniiat Haghighi, Seyed Reza Najafizadeh   +5 more
doaj   +1 more source

Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM

, 2002
Chromosome aberrations, genomic instability, and cancer predisposition are hallmarks of a number of syndromes in which the defective genes recognize and/or repair DNA damage or are involved in some aspect of DNA processing.
Fukao, T (15560078), Kondo, N (15560084), Beresten, S (15560102), Chen, P (15559889), Lees-Miller, S (15560105), Peng, C (15559970), Beamish, H (15560093), Nuri Guven (14738161), Purdie, D (15492923), Ellis, N (15498383), Kaneko, H (15560099), Lavin, MF (15537797), Kedar, P (15560096)   +12 more
core  

Generalized Telangiectasia [PDF]

Proceedings of the Royal Society of Medicine, 1965
K, Grice, S C, Gold
openaire   +2 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source