Results 71 to 80 of about 2,431,050 (332)

Preoperative Cytopenia in Patients Affected by High‐Risk Neuroblastoma: Just a Matter of Platelets?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims In patients affected by high‐risk neuroblastoma (HR‐NB), complete macroscopic resection (CMR) is associated with better outcomes. These patients are often cytopenic due to intensive induction regimens. The aim of the present study is to assess the impact of preoperative cytopenia on surgical outcome in patients with HR‐NB ...
Giorgio Persano, Valerio Voglino, Federico Beati, Cristina Martucci, Chiara Grimaldi, Francesca Del Bufalo, Annalisa Serra, Francesco Fabozzi, Carmen Malaspina, Pier Luigi Di Paolo, Gian Luigi Natali, Simone Reali, Maria Antonietta De Ioris, Alessandro Crocoli   +13 more
wiley   +1 more source

Impact of GATA2 gene polymorphism (rs2335052 A > G) on coronary artery disease susceptibility

Egyptian Journal of Medical Human Genetics
Background The transcription factor GATA binding protein 2 (GATA2) is essential for the gene expression profile in vascular endothelial cells. GATA2 located on 3q21, encodes a transcription factor essential for the production and differentiation of ...
Sailaja Maddhuri, Chaitanya Kumar Bhukya, Gummadi Akhil, V. Gayathri Snigdha, P. Priyanka, Amaresh Rao Malempati, Vijaya Lakshmi Bodiga   +6 more
doaj   +1 more source

Relation of Adverse Childhood Experiences to Clinical and Patient‐Reported Outcomes for Adults With Sickle Cell Disease: A Registry Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adverse childhood experiences (ACEs) are stressful or traumatic events prior to age 18 that are known to have a lasting impact on individuals’ health and well‐being. There is a gap in understanding the relationship between ACEs and Other Life Stressors and health status for adults with sickle cell disease (SCD).
Marsha Treadwell, Jessica Liang, Liliana Preiss, Angela Rivers, Jane S. Hankins, Allison King, Justin Williams, Michael B. Potter, Danielle Hessler   +8 more
wiley   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

BMC Medical Genetics, 2020
Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders.
Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ   +8 more
doaj   +1 more source

A dynamic network approach for the study of human phenotypes [PDF]

, 2009
The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases.
A Barrat, A Hinks, A Rzhetsky, AB Begovich, AJ Lusis, Albert-László Barabási, C Benesch, CA Hidalgo, CA Hidalgo, César A. Hidalgo, D Lauderdale, DS Lee, GS Cooper, H Goehler, I Feldman, J Hatten, J Kobberling, J Lim, J Zhang, JB Mitchell, JF Rual, K-I Goh, Lauren Ancel Meyers, LI Iezzoni, MA Pujana, MC Oldham, N Craddock, Nicholas A. Christakis, Nicholas Blumm, P McGuffin, P Wordsworth, S Schneeweiss, SE Ahnert, SE Calvano, SF Grant, U Stelzl   +35 more
core   +5 more sources

What to Do When Medical Evidence Can Only Be Generated Through Routine Data: An Example From Pediatric Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children undergoing allogeneic stem cell transplantation often receive off‐label rituximab treatment for Epstein–Barr virus reactivation, using adult dosing without pediatric evidence. This project aims to develop a clinical decision support tool (CDSS) that provides evidence‐based dosing scenarios by analyzing real‐world patient data.
Birgit Burkhardt, Antje Walz, Dietrich Knoerzer   +2 more
wiley   +1 more source

The RaDiCo information system for rare disease cohorts

Orphanet Journal of Rare Diseases
Background Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais, Sonia Gueguen, Annick Clement, Serge Amselem, for the RaDiCo Program   +4 more
doaj   +1 more source

Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life

Cells
Topoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
doaj   +1 more source

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells, 2020
Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada   +3 more
doaj   +1 more source