Results 21 to 30 of about 187,732 (244)

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Genetic predisposition to metabolic dysfunction-associated fatty liver disease

Zdorovʹe Rebenka
The literature review highlights the issue of genetic risk factors associated with the development of metabolic dysfunction-associated fatty liver disease. Human genetic examinations revealed 132 genes among which 32 loci are strongly associated with the
O.E. Abaturov, A.O. Nikulina
doaj   +1 more source

Genetic polymorphisms in lung disease: bandwagon or breakthrough?

Respiratory Research, 2002
The study of genetic polymorphisms has touched every aspect of pulmonary and critical care medicine. We review recent progress made using genetic polymorphisms to define pathophysiology, to identify persons at risk for pulmonary disease and to predict ...
Rybicki Benjamin, Maliarik Mary, Iannuzzi Michael C   +2 more
doaj   +1 more source

A Comparative Study of Cerebral Oxygenation During Exercise in Hemodialysis and Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou, Konstantina Dipla, Danai Faitatzidou, Fotini Iatridi, Areti Georgiou, Artemios Karagiannidis, Erasmia Sampani, Chrysostomos Dimitriadis, Aggelos Koutlas, Andreas Zafeiridis, Pantelis Sarafidis   +10 more
wiley   +1 more source

Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815) [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2018
Objective The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women.
Cristina Wide Pissetti, Sarah Cristina Sato Vaz Tanaka, Andrezza Cristina Cancian Hortolani, Alessandra Bernadete Trovó de Marqui   +3 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Association of Genetic Variations in Energy Metabolism Genes with Noise-Induced Hearing Loss in a Chinese Population: A Case–Control Study

Noise and Health
Objective: This study explored the relationship between susceptibility to single-nucleotide polymorphisms (SNP) and noise-induced hearing loss (NIHL) in a population exposed to occupational noise.
Bing Wang, Shanfa Yu, Jie Jiao, Guizhen Gu, Guoshun Chen, Wenhui Zhou, Hui Wu, Yanhong Li, Huanling Zhang   +8 more
doaj   +1 more source

Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies

Frontiers in Oncology, 2022
Pediatric myelodysplastic syndromes (MDS) often raise concern for an underlying germline predisposition to hematologic malignancies, referred to as germline predisposition herein.
Serine Avagyan, Akiko Shimamura
doaj   +1 more source

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, EarlyView.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source