Results 61 to 70 of about 687,024 (308)

Clinical Genetics of Alzheimer’s Disease

BioMed Research International, 2014
Alzheimer’s disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset.
Zou, Zhangyu, Liu, Changyun, Che, Chunhui, Huang, Huapin   +3 more
openaire   +2 more sources

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

Myotonic dystrophy: genetics and clinical polymorphism

Анналы клинической и экспериментальной неврологии, 2019
Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova, Anna N. Moskalenko, Ekaterina Yu. Fedotova, Sergey A. Kurbatov, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey   +2 more
doaj   +1 more source

Improved Early Referral in Long‐Term Survivor Care With Institutional Standardized Practice Among Childhood Leukemia Survivors#

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In 2018, the Texas Children's Cancer and Hematology Center Leukemia Program implemented a practice standard to support the transition from treatment to survivorship that includes shared, alternating care between leukemia and survivorship clinicians and a reminder to refer survivors to the long‐term survivor clinic (LTSC) 2 years after ...
Ji Yun Tark, Kayla L. Foster, Omar Shakeel, Mary C. Shapiro, Shawki L. Qasim, ZoAnn Dreyer, Eric S. Schafer, Ashley M. Butler, Austin L. Brown, Maria Monica Gramatges   +9 more
wiley   +1 more source

Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease [PDF]

, 2018
© 2018, American College of Medical Genetics and Genomics. Purpose: As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role.
Viney, R, Kasparian, NA, Gary F. Sholler, Richard De Abreu Lourenco, Sholler, GF, Edwin P.E. Kirk, Winlaw, DS, De Abreu Lourenco, R, David S. Winlaw, Rosalie Viney, Kirk, EPE, Nadine A. Kasparian   +11 more
core   +1 more source

Ethical Issues in Contemporary Clinical Genetics

Mayo Clinic Proceedings: Innovations, Quality & Outcomes, 2018
As genetic sequencing capabilities become more powerful and costs decline, the reach of genomics is expanding beyond research laboratories to the wards, outpatient clinics, and, with the marketing of direct-to-consumer testing services, patients’ homes ...
Genna Braverman, MD, Zachary E. Shapiro, JD, MSc, Jonathan A. Bernstein, MD, PhD   +2 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

Clinical Genetics in Interstitial Lung Disease

Frontiers in Medicine, 2018
Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and
Chad A. Newton, Chad A. Newton, Philip L. Molyneaux, Philip L. Molyneaux, Justin M. Oldham   +4 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source