Results 81 to 90 of about 35,381 (234)
Age of death in ataxia-telangiectasia.
Age of death in ataxia-telangiectasia.
Emily Petley (12245533) +4 more
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Stem cell models in ataxia-telangiectasia [PDF]
: Ataxia-telangiectasia is a rare neurodegenerative disease with a complex phenotype, which has recently been associated with alterations in metabolism, inadequate responses to oxidative stress and inflammation, as well as increased cardiovascular and ...
Talmon, Maria +2 more
core +1 more source
Ataxia telangiectasia: what the neurologist needs to know.
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications.
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ABSTRACT Radioresistance remains a key barrier in breast cancer (BC) treatment. Baicalein, a flavonoid from Scutellaria baicalensis, has shown potential to enhance radiosensitivity. This study investigates its efficacy and mechanism in radioresistant BC models. Radioresistant BC cell models were established via fractionated irradiation and validated by
Zitong Zhao +3 more
wiley +1 more source
ATAXIA-TELANGIECTASIA - A CASE REPORT
RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mutação do gene ATM, localizado no cromosoma 11q22-23.
Veiga, E. +3 more
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Staging concept for aging management: Definition, mechanism, and coping strategies
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang +6 more
wiley +1 more source
Interventional oncology in children: Where are we now?
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel +1 more
wiley +1 more source
Challenging Physiotherapy for Children with Ataxia Telangiectasia
The aim of this article is to provide insight in the challenges for physiotherapists in assessment and treatment of the rare, degenerative and grave neurological disease Ataxia Telangiectasia (AT).
Trudy Burgers, Ellen Velema
core
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
When to consider an inborn error of immunity: clues for physicians
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source

