Results 41 to 50 of about 632,786 (261)

Time Toxicity in Wilms Tumor: Quantifying the Burden of Healthcare Interaction in the First Year After Diagnosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Wilms tumor (WT) treatment imposes a significant time burden on patients and their families. Time toxicity is a patient‐centered metric that quantifies the burden of healthcare interaction. We sought to define time toxicity in the first year after diagnosis of WT and hypothesized that it would increase as tumor stage and treatment ...
Caleb Q. Ashbrook, Veerain Gupta, Nicholas J. Clark, Vijay Rings, Lauren E. Corona, Douglass B. Clayton, Daniel J. Benedetti   +6 more
wiley   +1 more source

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

Frontiers in Genetics
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex.
Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar   +12 more
doaj   +1 more source

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj   +1 more source

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

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics, 2019
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt   +22 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Supporting Survivor‐Centered Care Through Digital Health Integration

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Survivors of childhood cancer face barriers to receiving guideline‐based, long‐term follow‐up care. Two digital tools, Passport for Care (PFC) and Cancer SurvivorLink (SurvivorLink), address complementary gaps by enabling tailored survivorship care plan (SCP) generation, updating, storage, and sharing.
Jordan G. Marchak, Rebecca Williamson‐Lewis, Michael O'Connor, Michael Palgon, Yu‐Ra Kim, Michael Schuckenbrock, Paula Edwards, Abraham Mendoza, Anthony Adams, Brian Arriaga‐Solis, Justin Parker, Harry Tinoco‐Giraldo, Jason King, C. Michael Fordis, Karen E. Effinger, Maria Monica Gramatges   +15 more
wiley   +1 more source

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source