Results 61 to 70 of about 1,654,437 (300)

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family [PDF]

, 2020
Head and neck paragangliomas are the most common clinical features of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation. The clinical management of this syndrome is still unclear.
Cantisani, Vito, Colao, Annamaria, Di Leo, Nicola, Faggiano, Antongiulio, Feola, Tiziana, Giannetta, Elisa, Isidori, Andrea M, Lenzi, Andrea, Modica, Roberta, Polti, Giorgia, Puliani, Giulia, Sesti, Franz, Verrico, Monica   +12 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Pediatric Oncology Nursing Competencies in Latin America and the Caribbean: A Scoping Review to Inform Practice, Education, and Research

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Nurses are central to cancer care for children and adolescents, yet no comprehensive synthesis has defined essential core competencies for pediatric oncology nursing (PON) practice internationally, particularly in Latin America and the Caribbean (LAC).
Luís Carlos Lopes‐Júnior, Edmara Bazoni Soares Maia, Soad Fuentes‐Alabí, Courtney E. Sullivan, Monnie Abraham, Mauricio Maza, Liliana Vásquez Ponce, Regina Aparecida Garcia Lima   +7 more
wiley   +1 more source

Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey

Balkan Journal of Medical Genetics, 2021
Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2.
Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ   +7 more
doaj   +1 more source

Genetic Relationships and Therapeutic Options for Relapsed Acute Lymphoblastic Leukemia [PDF]

, 2020
Acute lymphoblastic leukemia (ALL) is the most common form of cancer among children and can be lethal to the adult population. Though 80% of patients with ALL reach complete remission after treatment, about 20% of those diagnosed fail to remain cancer ...
Shertzer, Hailie
core   +1 more source

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group   +23 more
doaj   +1 more source