Results 91 to 100 of about 1,423,917 (266)

The genetics of Alzheimer's disease.

Clinical interventions in aging, 2014
Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
Bagyinszky, Eva, Youn, Young Chul, An, Seong Soo A, Kim, SangYun   +3 more
openaire   +2 more sources

Development and Implementation of a Disease‐Targeted Storybook as a Clinical Tool for Children With Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Although significant progress has been made in childhood leukemia survival, healthcare providers, and caregivers often face challenges in explaining this disease to patients. Disease‐targeted storybooks have been proposed as a tool to facilitate the understanding of diagnoses and treatment.
Nutvipha Ummartyotin, Usanarat Anurathapan, Rawiwan Roongpraiwan, Potchanee Dandamrongrak, Siriporn Nakhonchai, Pawin Numthavaj, Vilawan Chirdkiatgumchai   +6 more
wiley   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science
Mitochondria are essential organelles responsible for cellular energy production and diverse metabolic processes. Mitochondrial dysfunction is implicated in a wide range of diseases. Specifically, genetic mitochondrial diseases, arising from mutations in
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
doaj   +1 more source

Animal‐Assisted Activities With Therapy Dogs in Pediatric Oncology: A Multicenter Survey of the Current Status, Implementation, and Challenges in Germany, Austria, and Switzerland

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Animal‐assisted activities (AAAs) with therapy dogs have shown positive effects on patient well‐being and quality of life in various areas of medicine, including pediatric oncology. However, research on this topic is limited. The aim of this study is to present the current status of AAA in pediatric oncology in Germany, Austria, and
Jan‐Marius Wedig, Birgit Burkhardt, Christof M. Kramm, Kira Ostermann, Sarah C. Goretzki, Uta Dirksen, Nico Kurpiers, Michael M. Schündeln   +7 more
wiley   +1 more source

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

The Role of Chemotherapy in Pediatric Myoepithelial Carcinoma: A Systematic Review of the Literature

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Myoepithelial carcinoma (MEC) in pediatric patients is a rare and aggressive malignancy characterized by heterogeneous morphology and variable molecular features. The optimal role of chemotherapy remains unclear. We conducted a systematic review according to PRISMA 2020 guidelines to evaluate chemotherapy in pediatric and young‐adult patients ...
Marco Salvi, Maria Carmen Affinita, Giulia Fichera, Luisa Santoro, Angela Scagnellato, Calogero Virgone, Elena Poli, Gianni Bisogno   +7 more
wiley   +1 more source

Determining Parental Factors for Clinical Trial Attrition in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Despite high enrollment rates on Children's Oncology Group (COG) protocols, attrition after initial consent is challenging, introducing bias and prolonging trial completion. While adult oncology literature has identified predictors of withdrawal, little is known about caregiver decision‐making for child participation in ...
Kimberly L. Stathas, Jakob Q. Weiss, Kellee N. Parker, Cathy Lee‐Miller   +3 more
wiley   +1 more source

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models

EMBO Molecular Medicine
Inherited metabolic diseases are rare monogenic conditions that disrupt biochemical pathways, affecting energy production and homeostasis, often leading to damaging metabolite accumulation.
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, Clara D M van Karnebeek, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +6 more
doaj   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić, Rhoikos Furtwängler, Tanzina Chowdhury, Christian Vokuhl, Jenny Wegert, Norbert Graf   +5 more
wiley   +1 more source

Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa

Molecular Therapy: Nucleic Acids
Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are severe blistering skin disorders caused by mutations in genes encoding type VII collagen (COL7A1) and laminin 332 (LAMA3, LAMB3, or LAMC2), respectively.
Kathleen L. Miao, Brandon Levian, Yingping Hou, Ryan Huynh, Kate Zheng, Mei Chen   +5 more
doaj   +1 more source