Results 31 to 40 of about 198,180 (264)

Polygenic risk score refines cardiovascular disease risk in individuals with type 2 diabetes at borderline or intermediate risk

Journal of Diabetes Investigation
To evaluate whether a coronary artery disease (CAD) polygenic risk score (PRS) can improve atherosclerotic cardiovascular disease (ASCVD) risk stratification in individuals with type 2 diabetes (T2D), particularly those at borderline or intermediate 10 ...
Jaewon Choi, Hyunsuk Lee, Tae‐Min Rhee, Jun‐Bean Park, Soo Heon Kwak   +4 more
doaj   +1 more source

Genetic cause of pulmonary veno-occlusive disease

Lung India, 2022
Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic
Kaustubh Mohite, Anil Kumar Sapare
doaj   +1 more source

Consensus Standards and Recommendations for Developmental and Cognitive Surveillance, Screening, and Evaluation in Sickle Cell Disease: Executive Summary From the National Alliance of Sickle Cell Centers Neurocognitive Workgroup

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neurodevelopmental and neurocognitive difficulties are prevalent among individuals with sickle cell disease and warrant prompt identification and support. This Special Report provides an executive summary of standards and recommendations for surveillance, screening, and evaluation for development and cognition across the lifespan developed by ...
Alyssa M. Schlenz, Donna Murdaugh, Andrew M. Heitzer, Jennifer N. Longoria, Wendy Santos‐Modesitt, Arianna Martin, Judy Cavazos, Jeff Schatz, Catherine R. Hoyt, Alison King, Eboni I. Lance, Steven Hardy, Marsha Treadwell   +12 more
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

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Relationship between polymorphisms of DNA repair gene ERCC1 and susceptibility to lung cancer

Chinese Journal of Lung Cancer, 2008
Background and objective The recent studies have demonstrated that polymorphisms of DNA repair genes can impact the tumor susceptibility. So the susceptible group can be chosen through analysis of different genotype of DNA repair genes and maybe get the ...
Bo SU, Jie ZHANG, Liang TANG, Zengli ZHANG, Caicun ZHOU   +4 more
doaj  

Identification of DICER1 Syndrome on the Basis of Familial, Early‐Onset Differentiated Thyroid Cancer

Clinical Case Reports
DICER1 syndrome encompasses a wide range of phenotypes, and not all individuals with DICER1 syndrome develop aggressive soft tissue tumors. DICER1 syndrome and other genetic conditions predisposing to the development of thyroid tumors should be ...
Jessica Y. Wong, Alex Henderson, Simon Harper, Richard W. Carroll, Peter B. Bethwaite, Esko Wiltshire   +5 more
doaj   +1 more source

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Genetic Predisposition to SARS-CoV-2 Infection: Cytokine Polymorphism and Disease Transmission within Households

Biology, 2023
We addressed the question of the influence of the molecular polymorphism of cytokines from different T helper subsets on the susceptibility to SARS-CoV-2 infection. From a cohort of 527 samples (collected from 26 May 2020 to 31 March 2022), we focused on
Marius Saal, Henry Loeffler-Wirth, Thomas Gruenewald, Ilias Doxiadis, Claudia Lehmann   +4 more
doaj   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić, Rhoikos Furtwängler, Tanzina Chowdhury, Christian Vokuhl, Jenny Wegert, Norbert Graf   +5 more
wiley   +1 more source