Results 81 to 90 of about 53,964 (227)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis [PDF]

, 2017
Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent ...
Alipour, Paria., Fattahi, Najmeh., Golchin, Neda., Mohammadi-Asl, Javad., Pourahmadiyan, Azam., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +6 more
core   +1 more source

Complementary and Integrative Medicine for the Treatment of Tourette's Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background There is widespread interest in complementary and integrative medicine (CIM) among people with Tourette's syndrome (TS). Objective To perform a systematic review of evidence on the use of CIM to reduce tics and improve tic‐related quality of life.
Tamara Pringsheim, Catherine Deans, Saar Anis, Poonam Bhatia, Kevin Black, Yildiz Degirmenci, Donald Gilbert, Andreas Hartmann, Mariam Hull, Irene Malaty, Davide Martino, Alex Medina Escobar, Pablo Mir, Christelle Nilles, Marianna Sarchioto, Jibrin Sammani Usman, Harini Sarva, Katarzyna Smilowksa, Natalia Szejko, Kinga Tomczak, Daniel van Wamelen, Yulia Worbe   +21 more
wiley   +1 more source

Prolonged expression of the γ-H2AX DNA repair biomarker correlates with excess acute and chronic toxicity from radiotherapy treatment [PDF]

, 2011
The normal tissue tolerance levels to fractionated radiotherapy have been appreciated by a century of careful clinical observations and radiobiological studies in animals.
Arlett, CF, Bourton, EC, Parris, CN, Plowman, PN, Smith, D   +4 more
core   +2 more sources

Urologic Bacteriome: The Hero or the Villain in Prostate Cancer Onset, Progression, and Treatment?

Medicinal Research Reviews, EarlyView.
ABSTRACT Prostate cancer (PCa) is the second most frequently diagnosed cancer in men worldwide and the fifth leading cause of cancer‐related mortality, presenting urgent unmet clinical needs in diagnosis and treatment. The recognition of the microbiome as a key factor in human health has prompted numerous studies, revealing an exciting new approach to ...
Lara R. S. Fonseca, Mariana Feijó, Cátia V. Vaz, Bruno J. Pereira, Sandra Laurentino, Ana Palmeira‐de‐Oliveira, Sílvia Socorro   +6 more
wiley   +1 more source

Genomic stability in response to high versus low linear energy transfer radiation in Arabidopsis thaliana. [PDF]

, 2014
Low linear energy transfer (LET) gamma rays and high LET HZE (high atomic weight, high energy) particles act as powerful mutagens in both plants and animals.
Britt, Anne B, Conklin, Phillip A, Friesner, Joanna D, Huefner, Neil D, Yoshiyama, Kaoru   +4 more
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Case Presentation: Large Diffuse B-cell Lymphoma Developing in the Context of Primary Immunodeficiency

Çocuk Dergisi
Ataxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia,
Hikmet Gülşah Tanyıldız, Hasan Atalay Tuncay, Şifa Şahin, Yasin Yılmaz, Serap Karaman   +4 more
doaj   +1 more source

Growth and nutrition in children with Ataxia telangiectasia [PDF]

, 2016
Background: Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases.
Alison Tooke, Andrew P Prayle, Andy Bush, Bar, Bhatt, Bresnahan, Corey, Crawford, da Silva, Ehlayel, Emma Stewart, Girardet, Jayesh M Bhatt, Ledder, Lefton-Greif, Lefton-Greif, Mahant, Mohnish Suri, Morrell, Notarangelo, Peretz, Ramírez, Robinson, Ross, Sara Pasalodos, Schalch, Schubert, Sharma, Sharon, Sy, Voss, Walker, Woods   +32 more
core   +1 more source

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, EarlyView.
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, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 more
wiley   +1 more source