Results 91 to 100 of about 77,321 (235)
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
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Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey +9 more
wiley +1 more source
Ataxia telangiectasia bemutatása egy eset kapcsán
Az ataxia telangiectasia egy nagyon heterogén és ritka kórkép, melynek incidenciája 1:20000. Az Egyesült Államokban élő kaukázusi populáció 1,4-2 %-a hordozó.
Bunkóczi, Csilla
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Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing
Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda +5 more
wiley +1 more source
Síndrome de Ataxia-Telangiectasia Ataxia-telangiectasia: a case report
A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do ...
Amauri Batista da Silva +4 more
doaj
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama +7 more
doaj +1 more source
ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang +10 more
wiley +1 more source
ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington +105 more
wiley +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.
core +2 more sources
Walsh& Hoyt: Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is characterized by oculocutaneous telangiectasia, progressive cerebellar ataxia, recurrent sinopulmonary infections, hypersensitivity to ionizing radiation, and a high incidence of lymphoreticular neoplasms (37,686-690).
John Kerrison, MD
core +1 more source

