Results 51 to 60 of about 509,181 (309)

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]

, 2009
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro, GHELLI, ANNA MARIA, Mattioli Stefano, Pala M., Barbieri, Anna, Vidoni S., Torroni Antonio, Carelli Valerio, Anna Barbieri, Vidoni, Sara, Valerio Carelli, Carelli, Valerio, Ghelli, Anna, Mattioli, Stefano, Torroni, Antonio, Iommarini, Luisa, Zanna, Claudia, Pala, Maria, Vidoni Sara, Stefano Mattioli, Antonio Torroni, Achilli A., ZANNA C, Porcelli Anna Maria, Zanna Claudia, Pala Maria, MATTIOLI S, Luisa Iommarini, GHELLI A, Achilli, Alessandro, IOMMARINI L, Rugolo, Michela, Torroni A., Porcelli, Anna Maria, CARELLI V., Ghelli Anna, Rugolo Michela, BARBIERI A, RUGOLO M, PORCELLI AM, Anna Ghelli, Barbieri Anna, Sara Vidoni, Maria Pala, Alessandro Achilli, Anna Maria Porcelli, Michela Rugolo, Claudia Zanna, Iommarini Luisa, VIDONI S   +49 more
core   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Egyptian Journal of Medical Human Genetics
Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa, Lilia Kraoua, Faouzi Maazoul, Jihène Zaroui, Ridha M’rad   +4 more
doaj   +1 more source

THE INFLUENCE OF RISK FACTORS ON THE DEVELOPMENT OF BIRTH DEFECTS AMONG NEWBORNS IN LVIV REGION (UKRAINE) IN 2002–2022 (PART 2)

Proceedings of the Shevchenko Scientific Society: Medical Sciences
Introduction. Birth defects (BDs) are an essential public health issue in children; the identification of probable risk factors should be a priority for the healthcare system.
Oleh Hnateiko, Nataliya Kitsera, Sofiya Henyk-Berezovska, Nataliia Lukyanenko, Oksana Lototska-Savchak, Nataliya Hruzyntseva   +5 more
doaj   +1 more source

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]

, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

Early Body Mass Index z‐Score Change and Resolution of Severe Malnutrition in Children With Sickle Cell Anemia in a Low‐Income Setting: A Prospective Single‐Arm Extension Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo, Shehu Umar Abdullahi, Hassan Adam Murtala, Halima Kabir, Khadija A. Shamsu, Sari A. Acra, Virginia A. Stallings, Mark Rodeghier, Michael R. DeBaun, Lauren J. Klein   +9 more
wiley   +1 more source

Potential Association of Gut Microbial Metabolism and Circulating mRNA Based on Multiomics Sequencing Analysis in Fetal Growth Restriction

Mediators of Inflammation
Objective. Fetal growth restriction (FGR) is a significant contributor to negative pregnancy and postnatal developmental outcomes. Currently, the exact pathological mechanism of FGR remains unknown.
Hui Tang, Dan Li, Jing Peng, Weitao Yang, Xian Zhang, Hanmei Li   +5 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women

Hereditary Cancer in Clinical Practice
Background The genetic background of ductal carcinoma in situ (DCIS) has not been well explored. Previously, we reported that Polish founder mutations of BRCA1/2 confer susceptibility to DCIS.
Sylwia Feszak, Wojciech Kluźniak, Igor Feszak, Magdalena Chady, Dominika Wokołorczyk, Klaudia Stempa, Helena Rudnicka, Katarzyna Gliniewicz, Anna Jakubowska, Marcin Lener, Maciej Czepukowicz, Tomasz Huzarski, Tadeusz Dębniak, Jacek Gronwald, Jan Lubiński, Cezary Cybulski   +15 more
doaj   +1 more source

Comparative Drug Response Profiling in Neuroblastoma Cell Lines and Patient‐Derived Tumor Organoids

Pediatric Blood &Cancer, EarlyView.
ABSTRACT High‐risk neuroblastoma remains a leading cause of pediatric cancer mortality, and improved preclinical models are needed to guide therapeutic developments. We screened seven high‐risk neuroblastoma cell lines and three patient‐derived tumor organoids with 528 compounds alongside bone marrow controls, and compared them with external datasets ...
Krzysztof Wierbiłowicz, Se Whee Sammy Park, Aironas Los, Ernest Liu, Nona Struyf, Tom Erkers, Sören Lehmann, Jan J. Molenaar, Jakob Stenman, Olli Kallioniemi, Päivi Östling, Brinton Seashore‐Ludlow, Kasper Karlsson   +12 more
wiley   +1 more source