Results 51 to 60 of about 390,058 (293)

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Pediatric dilated cardiomyopathy (DCM) is a well‐known clinical entity; however, phenotype–genotype correlations are inadequately described. Our objective was to provide genotype associations with life‐threatening cardiac outcomes in pediatric
Rabia S. Khan, Elfriede Pahl, Lisa Dellefave‐Castillo, Karen Rychlik, Alexander Ing, Kai Lee Yap, Casey Brew, Jamie R. Johnston, Elizabeth M. McNally, Gregory Webster   +9 more
doaj   +1 more source

The genomics of neonatal abstinence syndrome [PDF]

, 2017
Significant variability has been observed in the development and severity of neonatal abstinence syndrome (NAS) among neonates exposed to prenatal opioids.
Cole, F. Sessions, Davis, Jonathan M, Wegner, Daniel J   +2 more
core   +3 more sources

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome

Cancer Reports
Background Approximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC.
Seyed Mohsen Mirabdolhosseini, Mohammad Yaghoob Taleghani, Leili Rejali, Hossein Sadeghi, Nayeralsadat Fatemi, Mehdi Tavallaei, Amin Famil Meyari, Narges Saeidi, Pardis Ketabi Moghadam, Amir Sadeghi, Hamid Asadzadeh Aghdaei, Mohammad Reza Zali, Ehsan Nazemalhosseini Mojarad   +12 more
doaj   +1 more source

Amyloidogenicity assessment of transthyretin gene variants

Annals of Clinical and Translational Neurology, 2022
Objective Hereditary transthyretin‐mediated amyloidosis is a treatable condition caused by amyloidogenic variants in the transthyretin‐gene resulting in severe peripheral neuropathy or cardiomyopathy.
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold P. Linke, Jan H. Bräsen, Jessica Schmitz, Maike Dohrn, Christian Schneider, Martin K. R. Svačina, Jörg Stetefeld, Manuel Koch, Helmar C. Lehmann   +11 more
doaj   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

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

Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease [PDF]

Archives of Endocrinology and Metabolism
Objective: In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. Subjects and methods: We retrospectively studied 53 consecutive patients with VHL disease and confirmed genetic ...
Gustavo H. Mori, Gustavo F. C. Fagundes, Lucas S. Santana, Felipe Freitas-Castro, Ana Caroline F. Afonso, Delmar M. Lourenço Jr., Maria Adelaide A. Pereira, Fabio Y. Tanno, Victor Srougi, Jose L. Chambo, Mauricio D. Cordeiro, William C. Nahas, Ana O. Hoff, Maria Candida B. V. Fragoso, Berenice B. Mendonca, Ana Claudia Latronico, Madson Q. Almeida   +16 more
doaj   +1 more source

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Frontiers in Genetics, 2021
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow.
Vasily E. Ramensky, Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina   +21 more
doaj   +1 more source

Germline pathogenic variants in 786 neuroblastoma patients

, 2023
AbstractImportanceNeuroblastoma accounts for 12% of childhood cancer deaths. The genetic contribution of rare pathogenic germline variation in patients without a family history remains unclear.ObjectiveTo define the prevalence, spectrum, and clinical significance of pathogenic germline variation in cancer predisposition genes (CPGs) in neuroblastoma ...
Jung Kim, Zalman Vaksman, Laura E. Egolf, Rebecca Kaufman, J. Perry Evans, Karina L. Conkrite, Arnavaz Danesh, Gonzalo Lopez, Michael P. Randall, Maiah H. Dent, Lance M. Farra, Neil Menghani, Malwina Dymek, Heena Desai, Ryan Hausler, Jaime Guidry Auvil, Daniela S. Gerhard, Hakon Hakonarson, Kara N. Maxwell, Kristina A. Cole, Trevor J. Pugh, Kristopher R. Bosse, Javed Khan, Jun S. Wei, John M. Maris, Douglas R. Stewart, Sharon J. Diskin   +26 more
openaire   +2 more sources

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source