Results 31 to 40 of about 1,391,897 (268)

Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes [PDF]

Sleep Science
Excessive daytime sleepiness (EDS) is a common complaint encountered in clinical practice with serious consequences both for individual and society since it can increase the ratio of motor vehicle accidents, work- related incidents, and deaths. Moreover,
Filiz Ozen, Zeynep Yegin, Zuhal Aydan Saglam, Figen Yavlal, Haydar Koc, Celal Ulasoglu   +5 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Exploring genetic associations of Crohn’s disease and ulcerative colitis with extraintestinal cancers in European and East Asian populations

Frontiers in Immunology
BackgroundPrevious studies have reported associations of Crohn’s disease (CD) and ulcerative colitis (UC) with the risks of extraintestinal cancers, but the causality remains unclear.MethodsUsing genetic variations robustly associated with CD and UC ...
Chengdong Yu, Jiawei Xu, Siyi Xu, Lei Tang, Qinyuan Han, Xiaoqiang Zeng, Yanxiao Huang, Tenghua Yu, Zhengkui Sun   +8 more
doaj   +1 more source

Association of genetic variants with dyslipidemia

Molecular Medicine Reports, 2015
Although genetic variants, which regulate lipid metabolism, have been extensively investigated in Caucasian populations, the genes, which confer susceptibility to dyslipidemia in Japanese individuals, remain to be elucidated. The aim of the present study was to examine a possible association among hypertriglyceridemia, hypo‑high density lipoprotein ...
Shintaro, Abe, Fumitaka, Tokoro, Reiko, Matsuoka, Masazumi, Arai, Toshiyuki, Noda, Sachiro, Watanabe, Hideki, Horibe, Tetsuo, Fujimaki, Mitsutoshi, Oguri, Kimihiko, Kato, Shinya, Minatoguchi, Yoshiji, Yamada   +11 more
openaire   +3 more sources

Health‐Related Social Needs in Children With Sickle Cell Disease Are Associated With Worse Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks, Molly Sonenklar, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler   +5 more
wiley   +1 more source

A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers

Orphanet Journal of Rare Diseases
Background WAGR spectrum disorder (WSD) is a rare genetic condition classically characterized by Wilms tumor, Aniridia, Genitourinary abnormalities, and Range of developmental delay.
Erica V. Sistare, Andrew M. George, Evan R. Hathaway, Kelly L. Trout, John Morris, Shari McCullen Krantz, Jennifer M. Kalish   +6 more
doaj   +1 more source

Cup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille, Hugo Roux, Odile Fenneteau, Aurélie Caye‐Eude, Alexia Kinoo, Yoann Vial, André Baruchel, Marion Strullu, Elodie Lainey, Hélène Cavé   +9 more
wiley   +1 more source

The anatomical distribution of genetic associations [PDF]

Nucleic Acids Research, 2015
Abstract Deeper understanding of the anatomical intermediaries for disease and other complex genetic traits is essential to understanding mechanisms and developing new interventions. Existing ontology tools provide functional annotations for many genes in the genome and they are widely used to develop mechanistic hypotheses based on ...
Wells, Alan, Kopp, Nathan, Xu, Xiaoxiao, O'Brien, David R, Yang, Wei, Nehorai, Arye, Adair-Kirk, Tracy L, Kopan, Raphael, Dougherty, J D   +8 more
openaire   +3 more sources

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

Sepsis genomics: Stepping forward toward sepsis prevention?

International Journal of Advanced Medical and Health Research, 2014
The era of personalized medicine has already begun and now it is time to initiate personalized prevention strategies against diseases. Infectious diseases have a higher mortality than any other illness, especially in developing countries.
Benet Bosco Dhas, Hiasindh Ashmi, Ballambattu Vishnu Bhat   +2 more
doaj   +1 more source